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
DGKI	9162	broad.mit.edu	37	7	137170135	137170135	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr7:137170135C>A	ENST00000453654.1	-	24	2051	c.1512G>T	c.(1510-1512)caG>caT	p.Q504H	DGKI_ENST00000446122.1_Missense_Mutation_p.Q786H|DGKI_ENST00000288490.5_Missense_Mutation_p.Q804H|DGKI_ENST00000424189.2_Missense_Mutation_p.Q807H			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	804	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	p.Q804H(2)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						AATGAACTCTCTGGGAGCCAG	0.353000													10	8					2.80697e-09	3.53165e-09	0.010729	1	0
ZFHX4	79776	broad.mit.edu	37	8	77776697	77776697	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr8:77776697C>A	ENST00000521891.2	+	11	11195	c.10747C>A	c.(10747-10749)Cag>Aag	p.Q3583K	ZFHX4_ENST00000455469.2_Missense_Mutation_p.Q3538K|ZFHX4_ENST00000518282.1_Missense_Mutation_p.Q3557K|ZFHX4_ENST00000050961.6_Missense_Mutation_p.Q3534K	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3534						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.Q3567K(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TGAGCTGAGCCAGAAGCTAGA	0.453000										HNSCC(33;0.089)			29	65					2.48779e-11	3.38446e-11	0.005443	1	0
OR2A2	442361	broad.mit.edu	37	7	143806748	143806748	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr7:143806748C>A	ENST00000408979.2	+	1	142	c.73C>A	c.(73-75)Ctc>Atc	p.L25I		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	25					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L25I(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					ACTGGCGATTCTCCTCTGTGG	0.517000													12	106					0.00185496	0.00194065	0.016723	1	0
KIAA0556	23247	broad.mit.edu	37	16	27585278	27585278	+	Splice_Site	SNP	G	G	T			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr16:27585278G>T	ENST00000261588.4	+	2	82		c.e2+1			NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556									p.?(2)		breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						GAAAAAGGAGGTAAATGTGTC	0.493000													8	55					1.12685e-05	1.29118e-05	0.004482	1	0
BTBD3	22903	broad.mit.edu	37	20	11904038	11904038	+	Missense_Mutation	SNP	G	G	T	rs150807132		TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr20:11904038G>T	ENST00000405977.1	+	5	1918	c.1293G>T	c.(1291-1293)caG>caT	p.Q431H	BTBD3_ENST00000378226.2_Missense_Mutation_p.Q431H|BTBD3_ENST00000254977.3_Missense_Mutation_p.Q370H|BTBD3_ENST00000399006.2_Missense_Mutation_p.Q370H			Q9Y2F9	BTBD3_HUMAN	BTB (POZ) domain containing 3	431								p.Q431H(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2)	34						TTAAGCGGCAGGGCGTTGTCC	0.493000													31	26					3.80469e-20	6.25986e-20	0.009535	1	0
DPEP3	64180	broad.mit.edu	37	16	68012481	68012481	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr16:68012481G>T	ENST00000268793.4	-	3	911	c.538C>A	c.(538-540)Cgc>Agc	p.R180S	DPEP3_ENST00000574342.1_5'UTR	NM_001129758.1|NM_022357.3	NP_001123230.1|NP_071752.3	Q9H4B8	DPEP3_HUMAN	dipeptidase 3	155					meiosis	anchored to membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity	p.R180S(1)		breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)		AGGGCGAGGCGCACGGCAGTC	0.607000													56	59					2.78941e-39	5.26432e-39	0.014410	1	0
FAM47C	442444	broad.mit.edu	37	X	37026557	37026557	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chrX:37026557C>T	ENST00000358047.3	+	1	126	c.74C>T	c.(73-75)cCg>cTg	p.P25L		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	25								p.P25L(2)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TGTGACAAACCGCCTTCCAAG	0.647000													8	28					0	0	0.003080	0	0
RGS7	6000	broad.mit.edu	37	1	241094038	241094038	+	Nonsense_Mutation	SNP	C	C	A			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr1:241094038C>A	ENST00000366565.1	-	6	745	c.364G>T	c.(364-366)Gag>Tag	p.E122*	RGS7_ENST00000366562.4_Nonsense_Mutation_p.E122*|RGS7_ENST00000348120.2_Intron|RGS7_ENST00000331110.7_Nonsense_Mutation_p.E96*|RGS7_ENST00000366564.1_Nonsense_Mutation_p.E122*|RGS7_ENST00000446183.2_Nonsense_Mutation_p.E38*|RGS7_ENST00000366563.1_Nonsense_Mutation_p.E122*|RGS7_ENST00000401882.1_Intron|RGS7_ENST00000407727.1_Nonsense_Mutation_p.E122*	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	122					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity	p.E122*(4)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TTTTCCGGCTCCCAACAATTT	0.388000													39	193					6.68952e-21	1.11492e-20	0.013114	1	0
ZNF385D	79750	broad.mit.edu	37	3	21706480	21706480	+	Silent	SNP	A	A	T			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr3:21706480A>T	ENST00000281523.2	-	2	581	c.63T>A	c.(61-63)cgT>cgA	p.R21R	ZNF385D_ENST00000494118.1_Intron	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	21						nucleus	nucleic acid binding|zinc ion binding	p.R21R(1)		NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						GGGCTGGTGGACGGACAAGGG	0.517000													17	32					0	0	0.006122	0	0
LTBP1	4052	broad.mit.edu	37	2	33442709	33442709	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr2:33442709C>A	ENST00000404816.2	+	8	2145	c.1792C>A	c.(1792-1794)Ccc>Acc	p.P598T	LTBP1_ENST00000404525.1_Missense_Mutation_p.P272T|LTBP1_ENST00000402934.1_Missense_Mutation_p.P272T|LTBP1_ENST00000407925.1_Missense_Mutation_p.P272T|LTBP1_ENST00000354476.3_Missense_Mutation_p.P598T|LTBP1_ENST00000390003.4_Missense_Mutation_p.P272T|LTBP1_ENST00000418533.2_Missense_Mutation_p.P272T			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	598	TB 1.				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	p.P598T(1)		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)				CCAGAAATGCCCCAAGAAACC	0.433000													25	9					1.26454e-06	1.48883e-06	0.005443	1	0
EP400	57634	broad.mit.edu	37	12	132529882	132529882	+	Missense_Mutation	SNP	A	A	G			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr12:132529882A>G	ENST00000333577.4	+	39	7020	c.6911A>G	c.(6910-6912)aAg>aGg	p.K2304R	EP400_ENST00000330386.6_Missense_Mutation_p.K2187R|EP400_ENST00000389562.2_Missense_Mutation_p.K2267R|EP400_ENST00000332482.4_Missense_Mutation_p.K2231R|EP400_ENST00000389561.2_Missense_Mutation_p.K2268R			Q96L91	EP400_HUMAN	E1A binding protein p400	2304					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.K2267R(1)		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)		AGGAAGAAGAAGCAGCGTCAC	0.557000													6	24					0	0	0.001168	0	0
SPACA3	124912	broad.mit.edu	37	17	31318959	31318959	+	Translation_Start_Site	SNP	G	G	T			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr17:31318959G>T	ENST00000269053.3	+	1	73	c.3G>T	c.(1-3)atG>atT	p.M1I	SPACA3_ENST00000394638.1_Start_Codon_SNP_p.M1I|SPACA3_ENST00000580599.1_Intron	NM_173847.3	NP_776246.1	Q8IXA5	SACA3_HUMAN	sperm acrosome associated 3	1					cell wall macromolecule catabolic process|defense response to Gram-positive bacterium|monocyte activation|peptidoglycan catabolic process|positive regulation of macrophage activation|positive regulation of phagocytosis|response to virus	acrosomal membrane|extracellular region|integral to membrane|lysosome	bacterial cell surface binding|lysozyme activity|protein binding	p.M1I(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(9;0.193)			TTGTCACCATGGTCTCAGCTC	0.607000													14	6					3.41278e-10	4.43892e-10	0.004990	1	0
BEGAIN	57596	broad.mit.edu	37	14	101004814	101004814	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr14:101004814T>C	ENST00000556751.1	-	5	4486	c.1082A>G	c.(1081-1083)gAc>gGc	p.D361G	BEGAIN_ENST00000443071.2_Missense_Mutation_p.D425G|BEGAIN_ENST00000355173.2_Missense_Mutation_p.D425G			Q9BUH8	BEGIN_HUMAN	brain-enriched guanylate kinase-associated	425						cytoplasm|membrane	protein binding	p.D425G(1)		cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)	14		Melanoma(154;0.212)				GGCGCCGATGTCCTCCACGCT	0.731000													5	15					0	0	0.001168	0	0
LRP1B	53353	broad.mit.edu	37	2	141272306	141272306	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr2:141272306C>T	ENST00000389484.3	-	51	9156	c.8185G>A	c.(8185-8187)Gca>Aca	p.A2729T		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2729	LDL-receptor class A 16.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.A2729T(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CATTTTTGTGCGGAACAAGCA	0.378000										TSP Lung(27;0.18)			9	26					0	0	0.004482	0	0
MYO10	4651	broad.mit.edu	37	5	16672830	16672830	+	Silent	SNP	G	G	A			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr5:16672830G>A	ENST00000513610.1	-	37	5731	c.5277C>T	c.(5275-5277)acC>acT	p.T1759T	MYO10_ENST00000274203.9_Silent_p.T1116T|MYO10_ENST00000515803.1_Silent_p.T1098T|MYO10_ENST00000427430.2_Silent_p.T1116T|MYO10_ENST00000505695.1_Silent_p.T1098T	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1759	FERM.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						CAGCTACGACGGTTCGACTTT	0.473000													3	63					0	0	0.004672	0	0
NRXN1	9378	broad.mit.edu	37	2	50723056	50723056	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr2:50723056G>T	ENST00000404971.1	-	16	4516	c.3177C>A	c.(3175-3177)aaC>aaA	p.N1059K	NRXN1_ENST00000406859.3_Missense_Mutation_p.N1019K|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000401669.2_Missense_Mutation_p.N1019K|NRXN1_ENST00000405472.3_Missense_Mutation_p.N1011K|NRXN1_ENST00000406316.2_Missense_Mutation_p.N1019K|NRXN1_ENST00000401710.1_Missense_Mutation_p.N28K|NRXN1_ENST00000402717.3_Missense_Mutation_p.N1011K	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1019	Laminin G-like 5.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	p.N1059K(1)|p.N1060K(1)|p.N1019K(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TGAGGTCTAAGTTCCTGGCTC	0.478000													6	39					8.12818e-05	8.86502e-05	0.001984	1	0
STK10	6793	broad.mit.edu	37	5	171533719	171533719	+	Silent	SNP	G	G	C			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr5:171533719G>C	ENST00000176763.5	-	6	1036	c.693C>G	c.(691-693)gcC>gcG	p.A231A		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	231	Protein kinase.						ATP binding|protein serine/threonine kinase activity	p.A231A(1)		breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GCTCGATCTGGGCCATCTCAA	0.607000											OREG0017039	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	38					0	0	0.006214	0	0
PCMTD1	115294	broad.mit.edu	37	8	52773652	52773652	+	Missense_Mutation	SNP	T	T	A			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr8:52773652T>A	ENST00000360540.5	-	3	466	c.60A>T	c.(58-60)gaA>gaT	p.E20D	PCMTD1_ENST00000544451.1_Intron|PCMTD1_ENST00000521344.1_Missense_Mutation_p.E20D|PCMTD1_ENST00000522514.1_Missense_Mutation_p.E20D|PCMTD1_ENST00000519559.1_Intron	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	20						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity	p.E20D(1)		NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				TATACTGAGCTTCTTTTAAAT	0.358000													21	53					0	0	0.014323	0	0
ADIPOQ	9370	broad.mit.edu	37	3	186570891	186570891	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr3:186570891G>T	ENST00000412955.2	+	2	185	c.44G>T	c.(43-45)gGt>gTt	p.G15V	ADIPOQ_ENST00000444204.2_Missense_Mutation_p.G15V|ADIPOQ_ENST00000320741.2_Missense_Mutation_p.G15V|ADIPOQ-AS1_ENST00000422718.1_RNA			Q15848	ADIPO_HUMAN	adiponectin, C1Q and collagen domain containing	15					brown fat cell differentiation|cellular response to drug|cellular response to insulin stimulus|detection of oxidative stress|fatty acid beta-oxidation|generation of precursor metabolites and energy|glucose homeostasis|glucose metabolic process|low-density lipoprotein particle clearance|negative regulation of blood pressure|negative regulation of DNA biosynthetic process|negative regulation of ERK1 and ERK2 cascade|negative regulation of eukaryotic cell surface binding|negative regulation of fat cell differentiation|negative regulation of gluconeogenesis|negative regulation of granulocyte differentiation|negative regulation of heterotypic cell-cell adhesion|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of intracellular protein transport|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|negative regulation of macrophage differentiation|negative regulation of MAP kinase activity|negative regulation of phagocytosis|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein autophosphorylation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of synaptic transmission|negative regulation of transcription, DNA-dependent|negative regulation of tumor necrosis factor production|negative regulation of tumor necrosis factor-mediated signaling pathway|positive regulation of cAMP-dependent protein kinase activity|positive regulation of cholesterol efflux|positive regulation of fatty acid metabolic process|positive regulation of glucose import|positive regulation of glycogen (starch) synthase activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of metanephric glomerular visceral epithelial cell development|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myeloid cell apoptosis|positive regulation of protein kinase A signaling cascade|positive regulation of renal albumin absorption|protein homooligomerization|protein localization in plasma membrane|response to glucose stimulus|response to tumor necrosis factor	collagen|endoplasmic reticulum|extracellular space	cytokine activity|eukaryotic cell surface binding|hormone activity|protein homodimerization activity	p.G15V(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(2)	16	all_cancers(143;1.2e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.47e-19)	GBM - Glioblastoma multiforme(93;0.0776)		GCTCTGCCCGGTCATGACCAG	0.617000													24	46					8.24728e-16	1.25008e-15	0.004656	1	0
MAGEE2	139599	broad.mit.edu	37	X	75004593	75004593	+	Silent	SNP	G	G	A			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chrX:75004593G>A	ENST00000373359.2	-	1	486	c.294C>T	c.(292-294)ttC>ttT	p.F98F		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	98	MAGE 1.							p.F98F(1)		autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TCATTCTCATGAAATTCACCA	0.532000													10	148					0	0	0.008291	0	0
NCKAP5	344148	broad.mit.edu	37	2	133483297	133483297	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr2:133483297G>T	ENST00000409261.1	-	19	5989	c.5616C>A	c.(5614-5616)agC>agA	p.S1872R	NCKAP5_ENST00000405974.3_Missense_Mutation_p.S553R|NCKAP5_ENST00000409213.1_Missense_Mutation_p.S553R|NCKAP5_ENST00000317721.6_Missense_Mutation_p.S1872R	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1872							protein binding	p.S1872S(1)|p.S1872R(1)|p.S392R(1)|p.S392S(1)		NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TACTGCCACCGCTGGCAGAGT	0.458000													6	19					3.59834e-05	4.01553e-05	0.001168	1	0
UBA7	7318	broad.mit.edu	37	3	49848422	49848422	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr3:49848422C>A	ENST00000333486.3	-	10	1383	c.1225G>T	c.(1225-1227)Gcc>Tcc	p.A409S		NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	409	2 approximate repeats.				ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity	p.A409S(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CTCACCAGGGCACAGTCCTCA	0.537000													10	24					0.00136819	0.0014353	0.013537	1	0
TRAV8-4	28682	broad.mit.edu	37	14	22363184	22363184	+	RNA	SNP	G	G	T			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr14:22363184G>T	ENST00000390438.2	+	0	443																											TGAGCGACGCGGCTGAGTACT	0.502000													37	60					4.92203e-23	8.42213e-23	0.006230	1	0
NXF5	55998	broad.mit.edu	37	X	101095988	101095988	+	Splice_Site	SNP	C	C	A			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chrX:101095988C>A	ENST00000537026.1	-	8	839	c.480_splice	c.e8+1	p.E160_splice	NXF5_ENST00000361708.2_Splice_Site_p.E160_splice|NXF5_ENST00000473265.2_Splice_Site_p.E160_splice	NM_032946.2	NP_116564.2	Q9H1B4	NXF5_HUMAN	nuclear RNA export factor 5	160					mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nucleus	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding	p.E160D(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						AAGGCTTCACCTCAGGGAAAT	0.493000													53	114					1.93748e-29	3.51854e-29	0.014410	1	0
AHCTF1	25909	broad.mit.edu	37	1	247025359	247025359	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr1:247025359C>G	ENST00000366508.1	-	28	3878	c.3742G>C	c.(3742-3744)Gca>Cca	p.A1248P	AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000391829.2_Missense_Mutation_p.A1213P|AHCTF1_ENST00000326225.3_Missense_Mutation_p.A1222P			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	1213	Necessary for nuclear localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding	p.A1213P(1)		NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			GAGGGAGATGCTAAAGGTGTT	0.433000													44	58					0	0	0.008740	0	0
CA5A	763	broad.mit.edu	37	16	87936058	87936058	+	Silent	SNP	A	A	T			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr16:87936058A>T	ENST00000309893.2	-	4	593	c.528T>A	c.(526-528)ggT>ggA	p.G176G		NM_001739.1	NP_001730.1	P35218	CAH5A_HUMAN	carbonic anhydrase VA, mitochondrial	176					one-carbon metabolic process	mitochondrial matrix	carbonate dehydratase activity|zinc ion binding	p.G176G(1)		large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(80;0.0513)		TCACAGCCAAACCATTCTCTC	0.373000													10	59					0	0	0.010729	0	0
LDLRAD2	401944	broad.mit.edu	37	1	22141121	22141121	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr1:22141121C>G	ENST00000344642.2	+	2	503	c.316C>G	c.(316-318)Ccg>Gcg	p.P106A	LDLRAD2_ENST00000543870.1_Missense_Mutation_p.P106A	NM_001013693.2	NP_001013715.2	Q5SZI1	LRAD2_HUMAN	low density lipoprotein receptor class A domain containing 2	106						integral to membrane	receptor activity	p.P106A(1)		endometrium(2)|large_intestine(1)|lung(3)	6		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.00166)|all_lung(284;0.00172)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;5.2e-26)|COAD - Colon adenocarcinoma(152;1.13e-05)|GBM - Glioblastoma multiforme(114;1.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00598)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)		CCCGGCCGACCCGTGCGCCCC	0.751000													6	10					0	0	0.001168	0	0
CENPH	64946	broad.mit.edu	37	5	68491566	68491566	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr5:68491566G>C	ENST00000283006.2	+	4	349	c.262G>C	c.(262-264)Gaa>Caa	p.E88Q	CENPH_ENST00000515001.1_Missense_Mutation_p.E88Q	NM_022909.3	NP_075060.1	Q9H3R5	CENPH_HUMAN	centromere protein H	88					cell division|CenH3-containing nucleosome assembly at centromere|chromosome segregation|kinetochore organization|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm	kinetochore binding|protein binding	p.E88Q(1)		kidney(15)|large_intestine(2)|lung(3)	20		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.41e-56)|Epithelial(20;1.29e-52)|all cancers(19;3.15e-48)|Lung(70;0.0178)		CCTGGAAAATGAAATTGAAGA	0.274000													14	18					0	0	0.004007	0	0
FASLG	356	broad.mit.edu	37	1	172635120	172635120	+	Silent	SNP	G	G	A			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr1:172635120G>A	ENST00000367721.2	+	4	994	c.810G>A	c.(808-810)gaG>gaA	p.E270E	FASLG_ENST00000340030.3_3'UTR	NM_000639.1	NP_000630.1	P48023	TNFL6_HUMAN	Fas ligand (TNF superfamily, member 6)	270					activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane	cytokine activity	p.E270E(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1)	19						TCAATTTTGAGGAATCTCAGA	0.433000													41	45					0	0	0.009718	0	0
CXorf56	63932	broad.mit.edu	37	X	118699217	118699217	+	Silent	SNP	G	G	A			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chrX:118699217G>A	ENST00000371594.4	-	1	180	c.102C>T	c.(100-102)tgC>tgT	p.C34C	CXorf56_ENST00000320339.4_5'UTR|CXorf56_ENST00000536133.1_Silent_p.C34C|CXorf56_ENST00000476164.1_Silent_p.C34C|CXorf56_ENST00000486230.1_Silent_p.C34C	NM_022101.3	NP_071384.1	Q9H5V9	CX056_HUMAN	chromosome X open reading frame 56	34							protein binding			cervix(1)|endometrium(2)|lung(7)	10						CCATCTGGCCGCACAAACAGT	0.577000													4	81					0	0	0.009096	0	0
NALCN	259232	broad.mit.edu	37	13	101748033	101748033	+	Splice_Site	SNP	T	T	C			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr13:101748033T>C	ENST00000251127.6	-	28	3244		c.e28-2			NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective							integral to membrane	sodium channel activity|voltage-gated ion channel activity	p.?(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GCAATCTTCCTAAAGTAGAAA	0.378000													11	62					0	0	0.010729	0	0
SEMA6C	10500	broad.mit.edu	37	1	151108068	151108068	+	Splice_Site	SNP	G	G	A			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr1:151108068G>A	ENST00000341697.3	-	14	3123	c.1433_splice	c.e14+1	p.R478_splice				Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	478	Sema.					integral to membrane	receptor activity	p.R478W(2)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			AGGCCTCACCGGGCAGGGCTG	0.597000													16	206					0	0	0.004990	0	0
RTCB	51493	broad.mit.edu	37	22	32792123	32792123	+	Missense_Mutation	SNP	T	T	G			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr22:32792123T>G	ENST00000216038.5	-	8	1026	c.928A>C	c.(928-930)Atg>Ctg	p.M310L	RTCB_ENST00000451746.2_Intron	NM_014306.4	NP_055121.1			RNA 2',3'-cyclic phosphate and 5'-OH ligase									p.M310L(1)									GCAGCTGCCATTCCCTTCAGA	0.493000													63	288					0	0	0.014410	0	0
GIN1	54826	broad.mit.edu	37	5	102423878	102423878	+	Splice_Site	SNP	T	T	C			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr5:102423878T>C	ENST00000399004.2	-	8	1389		c.e8-2		GIN1_ENST00000508629.1_Splice_Site	NM_017676.2	NP_060146.2	Q9NXP7	GIN1_HUMAN	gypsy retrotransposon integrase 1						DNA integration		DNA binding	p.?(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(142;3.23e-07)|all_epithelial(76;3.64e-10)|Prostate(80;0.00914)|Ovarian(225;0.0139)|Lung NSC(167;0.0212)|Colorectal(57;0.0249)|all_lung(232;0.0283)		Epithelial(69;3.57e-14)|COAD - Colon adenocarcinoma(37;0.00794)		AAAGACTTTCTGAAAAAAGAA	0.294000													25	56					0	0	0.021523	0	0
CLEC12B	387837	broad.mit.edu	37	12	10168005	10168005	+	Splice_Site	SNP	G	G	T			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr12:10168005G>T	ENST00000396502.1	+	4	692	c.564_splice	c.e4+1	p.K188_splice	RP11-133L14.5_ENST00000544225.1_RNA|CLEC12B_ENST00000338896.5_Splice_Site_p.K188_splice	NM_205852.2	NP_995324.2	Q2HXU8	CL12B_HUMAN	C-type lectin domain family 12, member B	188	C-type lectin.					integral to membrane|plasma membrane	receptor activity|sugar binding	p.K188N(1)		central_nervous_system(2)|large_intestine(2)|lung(5)	9						TGGAAGAAAAGGTAGGATTGA	0.358000													5	35					3.59834e-05	4.01553e-05	0.001168	1	0
ITK	3702	broad.mit.edu	37	5	156668716	156668716	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr5:156668716C>A	ENST00000422843.3	+	11	1198	c.1046C>A	c.(1045-1047)gCa>gAa	p.A349E	ITK_ENST00000519749.1_3'UTR	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	349					cellular defense response|intracellular signal transduction|T cell receptor signaling pathway	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.A349E(1)		breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCAGTTACAGCAGGGCTGAGA	0.498000			T	SYK	peripheral T-cell lymphoma								18	14					6.94344e-10	8.94055e-10	0.006122	1	0
TENM1	10178	broad.mit.edu	37	X	123657421	123657421	+	Silent	SNP	G	G	A			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chrX:123657421G>A	ENST00000422452.2	-	17	2889	c.2826C>T	c.(2824-2826)tcC>tcT	p.S942S	TENM1_ENST00000371130.3_Silent_p.S942S	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1									p.S944S(1)									GCAGGAAAGGGGATCGGTCGA	0.443000													15	39					0	0	0.003163	0	0
MPHOSPH8	54737	broad.mit.edu	37	13	20221078	20221078	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr13:20221078G>C	ENST00000361479.5	+	3	933	c.865G>C	c.(865-867)Gag>Cag	p.E289Q	MPHOSPH8_ENST00000414242.2_Missense_Mutation_p.E289Q	NM_017520.3	NP_059990.2	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	289					cell cycle	cytoplasm|nucleus				breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		CAGCAGAGAAGAGAAACAAAA	0.478000													3	119					0	0	0.004672	0	0
FGD4	121512	broad.mit.edu	37	12	32735020	32735020	+	Silent	SNP	G	G	A			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr12:32735020G>A	ENST00000427716.2	+	4	643	c.219G>A	c.(217-219)caG>caA	p.Q73Q	FGD4_ENST00000472289.1_Silent_p.Q73Q|FGD4_ENST00000546442.1_5'UTR|FGD4_ENST00000531134.1_Silent_p.Q158Q|FGD4_ENST00000266482.3_5'UTR|FGD4_ENST00000525053.1_Silent_p.Q185Q|FGD4_ENST00000534526.2_Silent_p.Q210Q	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	73	Actin filament-binding (By similarity).				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	p.Q73Q(1)		breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					ACTTGCCACAGAGGCAGGGAA	0.493000													32	68					0	0	0.017118	0	0
SLC17A6	57084	broad.mit.edu	37	11	22387098	22387098	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr11:22387098T>C	ENST00000263160.3	+	7	1191	c.754T>C	c.(754-756)Ttt>Ctt	p.F252L		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	252					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	p.F252L(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						TGCAGGAAGCTTTGGAATGGT	0.383000													6	95					0	0	0.001168	0	0
CXorf56	63932	broad.mit.edu	37	X	118676546	118676546	+	Silent	SNP	G	G	T			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chrX:118676546G>T	ENST00000320339.4	-	5	559	c.288C>A	c.(286-288)acC>acA	p.T96T	CXorf56_ENST00000371594.4_Silent_p.T145T|CXorf56_ENST00000536133.1_Silent_p.T131T|CXorf56_ENST00000476164.1_Silent_p.T145T|CXorf56_ENST00000469448.1_5'UTR|CXorf56_ENST00000486230.1_Silent_p.T145T	NM_001170569.1	NP_001164040.1	Q9H5V9	CX056_HUMAN	chromosome X open reading frame 56	145							protein binding	p.T145T(1)		cervix(1)|endometrium(2)|lung(7)	10						TGGTCCGTTTGGTCATCATCA	0.522000													27	78					1.77063e-15	2.66286e-15	0.005443	1	0
DDX52	11056	broad.mit.edu	37	17	35979858	35979858	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr17:35979858C>A	ENST00000349699.2	-	13	1647	c.1604G>T	c.(1603-1605)gGg>gTg	p.G535V	DDX52_ENST00000394367.3_Missense_Mutation_p.G427V	NM_007010.3	NP_008941.2	Q9Y2R4	DDX52_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 52	535	Helicase C-terminal.					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding	p.G535V(1)		biliary_tract(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|ovary(1)|skin(3)	17		Breast(25;0.00637)|Ovarian(249;0.15)				TACAGGACACCCAGCCTGCTG	0.338000													25	20					1.55811e-20	2.58566e-20	0.008361	1	0
MYH15	22989	broad.mit.edu	37	3	108110731	108110731	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr3:108110731G>A	ENST00000273353.3	-	38	5422	c.5366C>T	c.(5365-5367)gCc>gTc	p.A1789V		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1789						myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	p.A1789V(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TTCCAAGTGGGCAATGGTGTC	0.443000													16	168					0	0	0.004990	0	0
RAG1	5896	broad.mit.edu	37	11	36594888	36594888	+	Missense_Mutation	SNP	A	A	C			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr11:36594888A>C	ENST00000299440.5	+	2	146	c.34A>C	c.(34-36)Agt>Cgt	p.S12R		NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN	recombination activating gene 1	12	Interaction with importin alpha-1.				histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	p.S12R(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				CTTGGGACTCAGTTCTGCCCC	0.433000									Familial Hemophagocytic Lymphohistiocytosis				6	69					0	0	0.001168	0	0
PROK2	60675	broad.mit.edu	37	3	71830726	71830726	+	Silent	SNP	G	G	T			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr3:71830726G>T	ENST00000353065.3	-	2	267	c.114C>A	c.(112-114)tcC>tcA	p.S38S	PROK2_ENST00000295619.3_Silent_p.S38S	NM_021935.3	NP_068754.1	Q9HC23	PROK2_HUMAN	prokineticin 2	38					activation of MAPK activity|angiogenesis|anti-apoptosis|cell proliferation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response|neuropeptide signaling pathway|positive regulation of smooth muscle contraction|sensory perception of pain|spermatogenesis	extracellular region	G-protein-coupled receptor binding	p.S38S(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6		Prostate(10;0.00899)		BRCA - Breast invasive adenocarcinoma(55;1.89e-05)|Epithelial(33;0.000173)|LUSC - Lung squamous cell carcinoma(21;0.00168)|Lung(16;0.00306)		CACCACATTGGGAGTCCTTGT	0.443000													17	54					3.32936e-07	3.95618e-07	0.006122	1	0
SLITRK3	22865	broad.mit.edu	37	3	164907671	164907671	+	Silent	SNP	A	A	T			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr3:164907671A>T	ENST00000475390.1	-	2	1391	c.948T>A	c.(946-948)tcT>tcA	p.S316S	SLITRK3_ENST00000241274.3_Silent_p.S316S			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	316						integral to membrane		p.S316S(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						TAAAATGAACAGAGGATAGCA	0.473000										HNSCC(40;0.11)			50	108					0	0	0.014410	0	0
RNF20	56254	broad.mit.edu	37	9	104303258	104303258	+	Splice_Site	SNP	G	G	C			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr9:104303258G>C	ENST00000389120.3	+	5	718		c.e5+1			NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase						histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	p.?(1)		breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		AACAGTGGAGGTGAGGCAAGA	0.438000													26	28					0	0	0.018920	0	0
SLC4A3	6508	broad.mit.edu	37	2	220498124	220498124	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr2:220498124C>T	ENST00000358055.3	+	10	1918	c.1406C>T	c.(1405-1407)gCt>gTt	p.A469V	SLC4A3_ENST00000273063.6_Missense_Mutation_p.A496V|SLC4A3_ENST00000317151.3_Missense_Mutation_p.A469V|SLC4A3_ENST00000373762.3_Missense_Mutation_p.A496V|SLC4A3_ENST00000373760.2_Missense_Mutation_p.A469V			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	469					bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity	p.A496V(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCTACCATGGCTGATGACCTG	0.617000													8	52					0	0	0.003080	0	0
ENPP3	5169	broad.mit.edu	37	6	132058512	132058512	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr6:132058512G>T	ENST00000414305.1	+	23	2435	c.2107G>T	c.(2107-2109)Gat>Tat	p.D703Y	ENPP3_ENST00000357639.3_Missense_Mutation_p.D703Y|ENPP3_ENST00000358229.5_Missense_Mutation_p.Q657H			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	703	Nuclease.				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity	p.D703Y(1)		NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		TAGAACATCAGATAGCCAATA	0.294000													17	67					4.63292e-17	7.16335e-17	0.008871	1	0
OR2L8	391190	broad.mit.edu	37	1	248112648	248112648	+	Silent	SNP	C	C	T			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr1:248112648C>T	ENST00000357191.3	+	1	489	c.489C>T	c.(487-489)ctC>ctT	p.L163L	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	163					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L163L(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			TATATGTACTCCATATTCCTT	0.478000													19	154					0	0	0.008871	0	0
IGHV4-31	28396	broad.mit.edu	37	14	106805666	106805666	+	RNA	SNP	G	G	T			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr14:106805666G>T	ENST00000438142.2	-	0	50																											GGAGGTCCAGGACTCTCAGAA	0.498000													10	14					4.14922e-12	5.8301e-12	0.004007	1	0
NSUN6	221078	broad.mit.edu	37	10	18931430	18931430	+	Missense_Mutation	SNP	A	A	T			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr10:18931430A>T	ENST00000377304.4	-	3	704	c.286T>A	c.(286-288)Tta>Ata	p.L96I	RP11-139J15.7_ENST00000606425.1_Missense_Mutation_p.L84I	NM_182543.2	NP_872349.1	Q8TEA1	NSUN6_HUMAN	NOP2/Sun domain family, member 6	96							methyltransferase activity|RNA binding	p.L96I(1)		endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15						GGAATAAGTAACACATCTTGA	0.308000													34	67					0	0	0.017118	0	0
IGHV1-45	28466	broad.mit.edu	37	14	106963337	106963337	+	RNA	SNP	C	C	A			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr14:106963337C>A	ENST00000390621.2	-	0	87																											CTGCTGCCACCAAGAAGAGGA	0.562000													30	49					3.80469e-20	6.25986e-20	0.009535	1	0
ARFGAP3	26286	broad.mit.edu	37	22	43195156	43195156	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr22:43195156G>C	ENST00000263245.5	-	15	1641	c.1422C>G	c.(1420-1422)agC>agG	p.S474R	ARFGAP3_ENST00000429508.2_Missense_Mutation_p.S402R|ARFGAP3_ENST00000437119.2_Missense_Mutation_p.S430R	NM_001142293.1|NM_014570.4	NP_001135765.1|NP_055385.3	Q9NP61	ARFG3_HUMAN	ADP-ribosylation factor GTPase activating protein 3	474					intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport	cytosol|Golgi membrane	ARF GTPase activator activity|protein transporter activity|zinc ion binding	p.S474R(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	11						CACTGGACAGGCTGTAGTTCC	0.577000													11	19					0	0	0.013537	0	0
TRIML1	339976	broad.mit.edu	37	4	189068134	189068134	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr4:189068134G>T	ENST00000332517.3	+	6	1155	c.1015G>T	c.(1015-1017)Ggg>Tgg	p.G339W	TRIML1_ENST00000507581.1_3'UTR	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	339	B30.2/SPRY.				multicellular organismal development		ligase activity|zinc ion binding	p.G339W(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		CTTCACCAGTGGGAGACACTA	0.552000													23	47					5.26018e-13	7.5566e-13	0.012319	1	0
FXYD2	486	broad.mit.edu	37	11	117693433	117693433	+	Splice_Site	SNP	C	C	T			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr11:117693433C>T	ENST00000528014.1	-	3	187		c.e3-1		FXYD2_ENST00000260287.2_Splice_Site|FXYD6-FXYD2_ENST00000532984.1_Splice_Site|FXYD2_ENST00000292079.2_Splice_Site|FXYD2_ENST00000532119.1_Splice_Site					FXYD domain containing ion transport regulator 2									p.?(1)		breast(1)|kidney(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	6	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|Breast(348;0.111)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;2.83e-05)|Epithelial(105;0.00114)		GGGCTGCCGCCTAGGAGAGAG	0.637000													8	9					0	0	0.003080	0	0
XPA	7507	broad.mit.edu	37	9	100459595	100459595	+	Translation_Start_Site	SNP	C	C	A			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr9:100459595C>A	ENST00000375128.4	-	0	44					NM_000380.3	NP_000371.1	P23025	XPA_HUMAN	xeroderma pigmentosum, complementation group A						nucleotide-excision repair, DNA damage removal	nucleoplasm	damaged DNA binding|metal ion binding|nucleotide binding|protein domain specific binding|protein homodimerization activity			breast(1)|endometrium(4)|large_intestine(1)|lung(4)|prostate(1)	11		Acute lymphoblastic leukemia(62;0.158)				CTCCGAGGACCTAGCTCCCAG	0.731000			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				6	26					1.12685e-05	1.29118e-05	0.004482	1	0
TECPR1	25851	broad.mit.edu	37	7	97852397	97852397	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr7:97852397C>A	ENST00000447648.2	-	21	3132	c.2833G>T	c.(2833-2835)Ggt>Tgt	p.G945C	TECPR1_ENST00000479975.1_5'UTR|TECPR1_ENST00000379795.3_Missense_Mutation_p.G947C			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	945						integral to membrane	protein binding	p.G946C(1)		central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CCCTCGGCACCCGGGCTCTCC	0.672000													3	2					0.00024832	0.000267048	0.009096	1	0
FCGR3B	2215	broad.mit.edu	37	1	161594354	161594354	+	Missense_Mutation	SNP	A	A	G			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr1:161594354A>G	ENST00000294800.3	-	5	926	c.653T>C	c.(652-654)cTt>cCt	p.L218P	FCGR3B_ENST00000367964.2_Missense_Mutation_p.L218P|FCGR2B_ENST00000403078.3_Intron|FCGR2B_ENST00000367960.5_Intron|FCGR3A_ENST00000540048.1_Intron|FCGR3B_ENST00000531221.1_Missense_Mutation_p.L254P|FCGR2B_ENST00000428605.2_Intron|FCGR2B_ENST00000367962.4_Intron	NM_001244753.1|NM_001271035.1	NP_001231682.1|NP_001257964.1	O75015	FCG3B_HUMAN	Fc fragment of IgG, low affinity IIIb, receptor (CD16b)	218					immune response	anchored to membrane|extracellular region|plasma membrane	IgG binding|receptor activity	p.L218P(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	18	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		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)	CACTGCAAAAAGGAGTACCAT	0.433000													31	133					0	0	0.010818	0	0
TNN	63923	broad.mit.edu	37	1	175086339	175086339	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr1:175086339C>A	ENST00000239462.4	+	10	2497	c.2384C>A	c.(2383-2385)aCa>aAa	p.T795K		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	795	Fibronectin type-III 6.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		p.T795K(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		AAGGCCCAGACAGGTAAGGAG	0.527000													25	74					4.7796e-09	5.91687e-09	0.004656	1	0
RIMBP2	23504	broad.mit.edu	37	12	130926753	130926753	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr12:130926753G>T	ENST00000261655.4	-	8	1256	c.1093C>A	c.(1093-1095)Cgc>Agc	p.R365S	RIMBP2_ENST00000535703.1_Missense_Mutation_p.R273S|RIMBP2_ENST00000536002.1_Missense_Mutation_p.R273S	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	365	Fibronectin type-III 1.					cell junction|synapse		p.R365S(1)		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)		ACGGAGATGCGGTAGGTGCAG	0.627000													40	26					2.2871e-25	4.00242e-25	0.007835	1	0
GDPD4	220032	broad.mit.edu	37	11	76944186	76944186	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr11:76944186C>T	ENST00000315938.4	-	13	1523	c.1273G>A	c.(1273-1275)Gta>Ata	p.V425I	GDPD4_ENST00000376217.2_Missense_Mutation_p.V425I	NM_182833.1	NP_878253.1	Q6W3E5	GDPD4_HUMAN	glycerophosphodiester phosphodiesterase domain containing 4	425	GDPD.				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding	p.V425I(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						ACGGTGTATACGTTGATATGG	0.438000													30	25					0	0	0.010818	0	0
ACTR1A	10121	broad.mit.edu	37	10	104247996	104247996	+	Nonsense_Mutation	SNP	C	C	A			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr10:104247996C>A	ENST00000369905.4	-	4	289	c.226G>T	c.(226-228)Gag>Tag	p.E76*	ACTR1A_ENST00000446605.2_Nonsense_Mutation_p.E29*|ACTR1A_ENST00000545684.1_Nonsense_Mutation_p.E2*|ACTR1A_ENST00000487599.1_Nonsense_Mutation_p.E76*	NM_005736.3	NP_005727.1	P61163	ACTZ_HUMAN	ARP1 actin-related protein 1 homolog A, centractin alpha (yeast)	76					G2/M transition of mitotic cell cycle|vesicle-mediated transport	centrosome|cytosol|dynactin complex	ATP binding	p.E76*(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	13		Colorectal(252;0.122)		Epithelial(162;5.34e-09)|all cancers(201;1.43e-07)|BRCA - Breast invasive adenocarcinoma(275;0.222)		ATGCCATGCTCCATGGGATAG	0.527000													5	81					0.014758	0.0151112	0.014758	1	0
MAP1LC3B2	643246	broad.mit.edu	37	12	117013775	117013775	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr12:117013775C>G	ENST00000306985.4	+	2	182	c.28C>G	c.(28-30)Cgg>Ggg	p.R10G	MAP1LC3B2_ENST00000556529.1_Missense_Mutation_p.R10G	NM_001085481.1	NP_001078950.1	A6NCE7	MP3B2_HUMAN	microtubule-associated protein 1 light chain 3 beta 2	10					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|endomembrane system|microtubule		p.R10G(1)		breast(1)|large_intestine(2)|lung(3)	6						CTTCAAGCAGCGGCGCACCTT	0.607000													14	62					0	0	0.020292	0	0
ELOVL7	79993	broad.mit.edu	37	5	60067911	60067911	+	Missense_Mutation	SNP	A	A	T			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr5:60067911A>T	ENST00000505959.1	-	6	561	c.35T>A	c.(34-36)gTt>gAt	p.V12D	ELOVL7_ENST00000508821.1_Missense_Mutation_p.V25D|ELOVL7_ENST00000425382.1_Missense_Mutation_p.V25D|ELOVL7_ENST00000438340.1_Missense_Mutation_p.V25D			A1L3X0	ELOV7_HUMAN	ELOVL fatty acid elongase 7	25					fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding	p.V25D(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	9		Lung NSC(810;2.56e-06)|Prostate(74;0.0115)|Breast(144;0.0244)|Ovarian(174;0.0481)				CCAATCTTCAACTCTTGGATC	0.438000													6	22					0	0	0.003080	0	0
MYOT	9499	broad.mit.edu	37	5	137211545	137211545	+	Silent	SNP	T	T	C			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr5:137211545T>C	ENST00000239926.4	+	3	758	c.384T>C	c.(382-384)ccT>ccC	p.P128P	RP11-381K20.2_ENST00000514616.1_RNA|MYOT_ENST00000509812.1_3'UTR|MYOT_ENST00000515645.1_Silent_p.P13P|MYOT_ENST00000421631.2_5'UTR	NM_006790.2	NP_006781.1	Q9UBF9	MYOTI_HUMAN	myotilin	128	Necessary for interaction with ACTN1.				muscle contraction	actin cytoskeleton|sarcolemma|sarcomere	actin binding|structural constituent of muscle			cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CTGGCCAACCTATAAATGCAA	0.363000													3	85					0	0	0.009096	0	0
FBXL17	64839	broad.mit.edu	37	5	107216724	107216724	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr5:107216724T>C	ENST00000496714.1	-	7	986	c.785A>G	c.(784-786)tAt>tGt	p.Y262C	FBXL17_ENST00000542267.1_Intron|FBXL17_ENST00000359660.5_Intron			Q9UF56	FXL17_HUMAN	F-box and leucine-rich repeat protein 17	663										endometrium(1)|large_intestine(4)|lung(1)	6		all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232)		OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10)		AACAACTTGATAGTCAACTCT	0.383000													48	49					0	0	0.014410	0	0
P2RY6	5031	broad.mit.edu	37	11	73008427	73008427	+	Silent	SNP	G	G	A			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr11:73008427G>A	ENST00000393590.2	+	2	1163	c.864G>A	c.(862-864)ccG>ccA	p.P288P	P2RY6_ENST00000540124.1_Silent_p.P288P|P2RY6_ENST00000393591.1_Silent_p.P288P|P2RY6_ENST00000542092.1_Silent_p.P288P|P2RY6_ENST00000540342.1_Silent_p.P288P|P2RY6_ENST00000393592.2_Silent_p.P288P|P2RY6_ENST00000349767.2_Silent_p.P288P|P2RY6_ENST00000538328.1_Silent_p.P288P	NM_001277207.1|NM_001277208.1	NP_001264136.1|NP_001264137.1	Q15077	P2RY6_HUMAN	pyrimidinergic receptor P2Y, G-protein coupled, 6	288					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.P288P(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)	14						GCACGCGGCCGTTTGCCAGTG	0.602000													5	50					0	0	0.014758	0	0
ZBBX	79740	broad.mit.edu	37	3	167016239	167016239	+	Missense_Mutation	SNP	T	T	A			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr3:167016239T>A	ENST00000392766.2	-	18	2073	c.1733A>T	c.(1732-1734)cAa>cTa	p.Q578L	ZBBX_ENST00000455345.2_Missense_Mutation_p.Q578L|ZBBX_ENST00000392767.2_Missense_Mutation_p.Q578L|ZBBX_ENST00000307529.5_Missense_Mutation_p.Q578L|ZBBX_ENST00000392764.1_Missense_Mutation_p.Q549L	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	578						intracellular	zinc ion binding	p.Q578L(2)|p.Q578fs*1(2)		NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						GGCTATTTCTTGTAACAACTA	0.284000													6	76					0	0	0.001168	0	0
VARS	7407	broad.mit.edu	37	6	31749539	31749539	+	Splice_Site	SNP	C	C	A			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr6:31749539C>A	ENST00000375663.3	-	20	2788		c.e20-1		VARS_ENST00000482996.1_Splice_Site|VARS_ENST00000444930.2_Splice_Site	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase						translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity	p.?(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	ACATCCTCATCTGAGAGAGGC	0.602000													39	69					1.30998e-17	2.08406e-17	0.005524	1	0
MUC16	94025	broad.mit.edu	37	19	9063963	9063963	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr19:9063963G>T	ENST00000397910.4	-	3	23686	c.23483C>A	c.(23482-23484)tCc>tAc	p.S7828Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7830	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.S7828Y(2)|p.S3461Y(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGGGGTCAGGGAGGAAGCTAG	0.542000													32	60					3.99451e-17	6.20115e-17	0.009535	1	0
PRKCH	5583	broad.mit.edu	37	14	61917613	61917613	+	Silent	SNP	C	C	T			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr14:61917613C>T	ENST00000332981.5	+	6	1141	c.756C>T	c.(754-756)aaC>aaT	p.N252N	PRKCH_ENST00000555082.1_Silent_p.N91N	NM_006255.3	NP_006246.2	P24723	KPCL_HUMAN	protein kinase C, eta	252					intracellular signal transduction|platelet activation	cytosol|plasma membrane	ATP binding|enzyme binding|metal ion binding|protein kinase C activity	p.N252N(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		GCATCCACAACTACAAAGTGC	0.448000													20	54					0	0	0.008871	0	0
MYEF2	50804	broad.mit.edu	37	15	48435217	48435217	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr15:48435217C>A	ENST00000324324.7	-	17	1970	c.1691G>T	c.(1690-1692)tGt>tTt	p.C564F	MYEF2_ENST00000267836.6_Missense_Mutation_p.C540F	NM_016132.3	NP_057216.2	Q9P2K5	MYEF2_HUMAN	myelin expression factor 2	564	RRM 3.				transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding|nucleotide binding|RNA binding	p.C564F(1)		endometrium(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		all_lung(180;0.00217)		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)		GACTGTTCCACAGCCTTTTGA	0.348000													21	17					7.45023e-12	1.0355e-11	0.010504	1	0
GNPAT	8443	broad.mit.edu	37	1	231410987	231410987	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr1:231410987G>C	ENST00000366647.4	+	13	1933	c.1764G>C	c.(1762-1764)ttG>ttC	p.L588F	GNPAT_ENST00000469332.1_3'UTR|GNPAT_ENST00000366646.3_Missense_Mutation_p.L527F	NM_014236.3	NP_055051.1	O15228	GNPAT_HUMAN	glyceronephosphate O-acyltransferase	588					ether lipid biosynthetic process|fatty acid metabolic process|organ morphogenesis	peroxisomal matrix|peroxisomal membrane	glycerone-phosphate O-acyltransferase activity	p.L588F(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	23	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				AGTACCTTTTGAGTGAAGAAG	0.408000													5	54					0	0	0.014758	0	0
CRIP3	401262	broad.mit.edu	37	6	43276112	43276112	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr6:43276112G>C	ENST00000372569.3	-	2	83	c.79C>G	c.(79-81)Cgc>Ggc	p.R27G	CRIP3_ENST00000274990.4_Missense_Mutation_p.R27G|ZNF318_ENST00000607252.1_5'UTR	NM_206922.2	NP_996805.2	Q6Q6R5	CRIP3_HUMAN	cysteine-rich protein 3	27	LIM zinc-binding 1.					cytoplasm	zinc ion binding	p.R27G(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			AGGCAGAAGCGGTGCCAGTTC	0.607000													5	49					0	0	0.014758	0	0
MIR101-1	406893	broad.mit.edu	37	1	65524157	65524157	+	RNA	SNP	G	G	C			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr1:65524157G>C	ENST00000362265.1	-	0	34					NR_029516.1																						CTTTAGAATAGACAGCATCAG	0.502000													9	42					0	0	0.006214	0	0
GABRR3	200959	broad.mit.edu	37	3	97731232	97731232	+	RNA	SNP	G	G	A			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr3:97731232G>A	ENST00000472788.1	-	0	487					NM_001105580.2	NP_001099050.1	A8MPY1	GBRR3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 3						gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			large_intestine(2)|lung(1)	3						CGCGCAGCATGATATTCTCCA	0.453000													9	22					0	0	0.006214	0	0
PLA2G4C	8605	broad.mit.edu	37	19	48558213	48558213	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr19:48558213C>A	ENST00000354276.3	-	15	1678	c.1351G>T	c.(1351-1353)Gcc>Tcc	p.A451S	PLA2G4C_ENST00000599111.1_Missense_Mutation_p.A461S|PLA2G4C_ENST00000413144.2_Missense_Mutation_p.A451S|PLA2G4C_ENST00000596510.1_5'UTR|PLA2G4C_ENST00000599921.1_Missense_Mutation_p.A451S	NM_001159323.1	NP_001152795.1	Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	451	PLA2c.				arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding	p.A451S(1)|p.A451T(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		TAGCAGCTGGCGGGGGCCTTG	0.567000													24	24					1.85244e-09	2.33833e-09	0.018920	1	0
UMODL1	89766	broad.mit.edu	37	21	43557548	43557548	+	Splice_Site	SNP	G	G	T			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr21:43557548G>T	ENST00000400427.1	+	21	4339		c.e21-1		UMODL1_ENST00000400423.2_Splice_Site|UMODL1_ENST00000400424.1_Splice_Site|UMODL1_ENST00000408989.2_Splice_Site|UMODL1_ENST00000408910.2_Splice_Site	NM_001199527.1	NP_001186456.1	Q5DID0	UROL1_HUMAN	uromodulin-like 1							cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity	p.?(2)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						TCCTCCCCGAGGTGAGCCTCC	0.597000													66	123					2.10328e-26	3.71452e-26	0.014410	1	0
ANK2	287	broad.mit.edu	37	4	114275528	114275528	+	Silent	SNP	C	C	A			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr4:114275528C>A	ENST00000357077.4	+	38	5807	c.5754C>A	c.(5752-5754)ccC>ccA	p.P1918P	ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Silent_p.P1885P|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1885	Repeat-rich region.				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	p.P1918P(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)		CTGTATCGCCCTCCGGGAGGA	0.507000													17	22					3.45872e-05	3.89359e-05	0.004007	1	0
DAOA	267012	broad.mit.edu	37	13	106119472	106119472	+	Missense_Mutation	SNP	A	A	T			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr13:106119472A>T	ENST00000375936.3	+	2	161	c.115A>T	c.(115-117)Aac>Tac	p.N39Y	DAOA_ENST00000329625.5_5'UTR|DAOA-AS1_ENST00000448407.1_RNA	NM_001161812.1|NM_172370.3	NP_001155284.1|NP_758958.3	P59103	DAOA_HUMAN	D-amino acid oxidase activator	39						Golgi apparatus		p.N39Y(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	13	Lung NSC(43;0.01)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					CAAATCTGAAAACTCTCTAAA	0.284000													8	62					0	0	0.004482	0	0
ASB17	127247	broad.mit.edu	37	1	76397599	76397599	+	Missense_Mutation	SNP	A	A	T			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr1:76397599A>T	ENST00000284142.6	-	1	517	c.378T>A	c.(376-378)agT>agA	p.S126R		NM_080868.2	NP_543144.1	Q8WXJ9	ASB17_HUMAN	ankyrin repeat and SOCS box containing 17	126					intracellular signal transduction			p.S126R(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	21						CCAGGTTACAACTTCTGTCTT	0.338000													14	23					0	0	0.020292	0	0
SPTA1	6708	broad.mit.edu	37	1	158612763	158612763	+	Nonsense_Mutation	SNP	C	C	T			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr1:158612763C>T	ENST00000368148.3	-	32	4626	c.4446G>A	c.(4444-4446)tgG>tgA	p.W1482*	SPTA1_ENST00000368147.3_Nonsense_Mutation_p.W1482*	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1482					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.W1482*(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)					TGAGAGCCTTCCACCTAGAGG	0.483000													31	38					0	0	0.010818	0	0
PFKFB1	5207	broad.mit.edu	37	X	54982650	54982650	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chrX:54982650C>A	ENST00000375006.3	-	7	644	c.574G>T	c.(574-576)Gac>Tac	p.D192Y	PFKFB1_ENST00000545676.1_Missense_Mutation_p.D127Y|PFKFB1_ENST00000374992.2_Intron	NM_002625.2	NP_002616.2	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1	192	6-phosphofructo-2-kinase.				energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding	p.D192Y(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						TTTAGAAAGTCTTCCAGAACC	0.483000													21	44					6.44725e-10	8.35755e-10	0.014323	1	0
RBM19	9904	broad.mit.edu	37	12	114374839	114374839	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr12:114374839C>T	ENST00000545145.2	-	16	2119	c.2041G>A	c.(2041-2043)Gaa>Aaa	p.E681K	RBM19_ENST00000261741.5_Missense_Mutation_p.E681K|RP11-780K2.1_ENST00000550206.1_RNA|RBM19_ENST00000392561.3_Missense_Mutation_p.E681K	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	681					multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding	p.E681K(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					GGGTCCTTTTCCATGGGTTCT	0.567000													11	118					0	0	0.013537	0	0
WNK3	65267	broad.mit.edu	37	X	54224972	54224972	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chrX:54224972G>T	ENST00000354646.2	-	24	5626	c.5188C>A	c.(5188-5190)Cca>Aca	p.P1730T	WNK3_ENST00000375169.3_Missense_Mutation_p.P1673T|WNK3_ENST00000375159.2_Missense_Mutation_p.P1730T	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	1673					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity	p.P1730I(1)		autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						GATGATAATGGCCCAGGAAAT	0.488000													25	29					4.87955e-14	7.14307e-14	0.005443	1	0
ZMYM4	9202	broad.mit.edu	37	1	35863113	35863113	+	Nonsense_Mutation	SNP	G	G	T			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr1:35863113G>T	ENST00000314607.6	+	20	3246	c.3166G>T	c.(3166-3168)Gaa>Taa	p.E1056*	ZMYM4_ENST00000373297.2_Nonsense_Mutation_p.E967*	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	1056					multicellular organismal development		DNA binding|zinc ion binding	p.E1056*(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AATGATTGCAGAAGATGAAGA	0.363000													15	15					1.05317e-09	1.33819e-09	0.020292	1	0
C3orf58	205428	broad.mit.edu	37	3	143708459	143708459	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr3:143708459G>C	ENST00000315691.3	+	3	1604	c.1069G>C	c.(1069-1071)Gac>Cac	p.D357H	C3orf58_ENST00000495414.1_Missense_Mutation_p.D148H|C3orf58_ENST00000441925.2_Missense_Mutation_p.D119H|C3orf58_ENST00000493396.1_Intron	NM_173552.3	NP_775823.1	Q8NDZ4	CC058_HUMAN	chromosome 3 open reading frame 58	357						COPI vesicle coat|extracellular region				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TGCCACTGTGGACCACAATTA	0.433000													3	64					0	0	0.009096	0	0
OR4N4	283694	broad.mit.edu	37	15	22382661	22382661	+	Silent	SNP	G	G	T			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr15:22382661G>T	ENST00000328795.4	+	1	280	c.189G>T	c.(187-189)ctG>ctT	p.L63L	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	63					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L63L(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		ATTTATTTCTGGGCAACTTGG	0.458000													13	232					6.97489e-18	1.12357e-17	0.021022	1	0
IGSF22	283284	broad.mit.edu	37	11	18731092	18731092	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr11:18731092C>A	ENST00000513874.1	-	18	2979	c.2840G>T	c.(2839-2841)tGg>tTg	p.W947L	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859.3	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	846								p.W947L(1)|p.W846L(1)		NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						GCACTTGGACCACTCCTTTGT	0.562000													36	37					1.414e-09	1.79076e-09	0.017118	1	0
LY9	4063	broad.mit.edu	37	1	160771649	160771649	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr1:160771649G>T	ENST00000368039.2	+	3	525	c.524G>T	c.(523-525)gGc>gTc	p.G175V	LY9_ENST00000368040.1_Intron|LY9_ENST00000368041.2_Intron|LY9_ENST00000341032.4_Intron|LY9_ENST00000263285.5_Intron|LY9_ENST00000471816.1_Intron	NM_001033667.2	NP_001028839.1	Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	0	Ig-like C2-type 1.				cell adhesion|immunoglobulin mediated immune response	integral to membrane		p.G175V(1)		autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			GAGGGCAGCGGCCTGGAGTCC	0.607000													93	119					3.07327e-39	5.77175e-39	0.014410	1	0
BLVRA	644	broad.mit.edu	37	7	43846816	43846816	+	Silent	SNP	T	T	C			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr7:43846816T>C	ENST00000402924.1	+	9	1036	c.873T>C	c.(871-873)taT>taC	p.Y291Y	BLVRA_ENST00000265523.4_Silent_p.Y291Y	NM_001253823.1	NP_001240752.1	P53004	BIEA_HUMAN	biliverdin reductase A	291					heme catabolic process	cytosol	biliverdin reductase activity|zinc ion binding			endometrium(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(2)	12					NADH(DB00157)	TCCAGAAATATTGCTGTTCAA	0.453000													3	113					0	0	0.004672	0	0
MUC16	94025	broad.mit.edu	37	19	9088957	9088957	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr19:9088957C>A	ENST00000397910.4	-	1	3061	c.2858G>T	c.(2857-2859)aGa>aTa	p.R953I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	953	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.R953I(2)		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						AAACGTGTCTCTATTGGTCTG	0.473000													92	63					1.38319e-45	2.63627e-45	0.014410	1	0
OR51D1	390038	broad.mit.edu	37	11	4661295	4661295	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr11:4661295C>A	ENST00000357605.2	+	1	351	c.275C>A	c.(274-276)cCc>cAc	p.P92H		NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D, member 1	92					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P92H(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATCACCATGCCCAAGATGGCC	0.527000													27	38					2.79863e-10	3.68934e-10	0.004656	1	0
ZXDA	7789	broad.mit.edu	37	X	57936549	57936549	+	Silent	SNP	G	G	T			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chrX:57936549G>T	ENST00000358697.4	-	1	518	c.306C>A	c.(304-306)acC>acA	p.T102T		NM_007156.4	NP_009087.1	P98168	ZXDA_HUMAN	zinc finger, X-linked, duplicated A	102					positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.T102T(1)		breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1)	37						CGGAGCCCGCGGTCTCCACGT	0.736000													6	15					2.7689e-08	3.3735e-08	0.001984	1	0
MIR557	693142	broad.mit.edu	37	1	168344846	168344846	+	RNA	SNP	T	T	C			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr1:168344846T>C	ENST00000385239.1	+	0	85					NR_030284.1																						GCCTTGTCTTTGAAAGGAGGT	0.473000													86	114					0	0	0.014410	0	0
COMMD10	51397	broad.mit.edu	37	5	115469791	115469791	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr5:115469791C>A	ENST00000274458.4	+	5	488	c.426C>A	c.(424-426)aaC>aaA	p.N142K	COMMD10_ENST00000515539.1_Missense_Mutation_p.N128K	NM_016144.2	NP_057228.1	Q9Y6G5	COMDA_HUMAN	COMM domain containing 10	142	COMM.						protein binding	p.N142K(1)		endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(2)	9		all_cancers(142;0.0834)|all_epithelial(76;0.00314)|Prostate(80;0.0102)|Ovarian(225;0.232)		OV - Ovarian serous cystadenocarcinoma(64;4.3e-07)|Epithelial(69;8.06e-07)|all cancers(49;4.06e-05)		GGCAGCTTAACCTTCAGATGG	0.413000													7	18					5.18039e-06	6.02553e-06	0.003080	1	0
FBXO34	55030	broad.mit.edu	37	14	55817595	55817595	+	Nonsense_Mutation	SNP	C	C	T			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr14:55817595C>T	ENST00000313833.4	+	2	732	c.487C>T	c.(487-489)Cag>Tag	p.Q163*	FBXO34_ENST00000440021.1_Nonsense_Mutation_p.Q163*	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34	163								p.Q163*(1)		breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						AGCCAAGGTACAGGTGGAAAG	0.438000													7	54					0	0	0.003080	0	0
MYH2	4620	broad.mit.edu	37	17	10439865	10439865	+	Silent	SNP	T	T	G			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr17:10439865T>G	ENST00000245503.5	-	17	2340	c.1956A>C	c.(1954-1956)acA>acC	p.T652T	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Silent_p.T652T|MYH2_ENST00000532183.1_Silent_p.T652T	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	652	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.T652T(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GGGCAGACACTGTCTGGAAAG	0.388000													13	12					0	0	0.016723	0	0
CLEC4F	165530	broad.mit.edu	37	2	71043709	71043709	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr2:71043709C>G	ENST00000272367.2	-	4	880	c.804G>C	c.(802-804)agG>agC	p.R268S	CLEC4F_ENST00000426626.1_Missense_Mutation_p.R268S	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	268					endocytosis	integral to membrane	receptor activity|sugar binding	p.R268S(1)		endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						GGTTCTGGGTCCTCAAGTCAT	0.423000													97	41					0	0	0.014410	0	0
RYR2	6262	broad.mit.edu	37	1	237865347	237865347	+	Missense_Mutation	SNP	T	T	A			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr1:237865347T>A	ENST00000366574.2	+	66	9754	c.9437T>A	c.(9436-9438)aTt>aAt	p.I3146N	RYR2_ENST00000542537.1_Missense_Mutation_p.I3130N|RYR2_ENST00000360064.6_Missense_Mutation_p.I3144N	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3146					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.I3144N(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGCAAGAGTATTTACGTGGAG	0.323000													10	19					0	0	0.006214	0	0
AMDHD1	144193	broad.mit.edu	37	12	96361533	96361533	+	Splice_Site	SNP	G	G	C			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr12:96361533G>C	ENST00000266736.2	+	9	1299		c.e9-1			NM_152435.2	NP_689648.2	Q96NU7	HUTI_HUMAN	amidohydrolase domain containing 1						histidine catabolic process to glutamate and formamide	cytosol	imidazolonepropionase activity|metal ion binding	p.?(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						TTTTTTTCTAGATGGGAGCAT	0.264000													5	6					0	0	0.001984	0	0
MXRA5	25878	broad.mit.edu	37	X	3235859	3235859	+	Missense_Mutation	SNP	A	A	G			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chrX:3235859A>G	ENST00000217939.6	-	6	6017	c.5863T>C	c.(5863-5865)Tcc>Ccc	p.S1955P		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1955	Ig-like C2-type 4.					extracellular region		p.S1955P(2)		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)				TGGTAGTGGGAGGCTAGGATT	0.572000													12	35					0	0	0.013537	0	0
SLC22A16	85413	broad.mit.edu	37	6	110763799	110763799	+	Silent	SNP	C	C	A			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr6:110763799C>A	ENST00000368919.3	-	4	897	c.831G>T	c.(829-831)gtG>gtT	p.V277V	SLC22A16_ENST00000330550.4_Silent_p.V243V|SLC22A16_ENST00000456137.2_3'UTR|SLC22A16_ENST00000439654.1_Silent_p.V277V	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	277					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity	p.V277V(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		AGGGGACAGTCACTGTGGAGA	0.478000													11	44					5.50884e-06	6.38826e-06	0.013537	1	0
OR2AK2	391191	broad.mit.edu	37	1	248129213	248129213	+	Missense_Mutation	SNP	T	T	A			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr1:248129213T>A	ENST00000366480.3	+	1	679	c.580T>A	c.(580-582)Tgt>Agt	p.C194S	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	194					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C194S(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			CCACTTTTTCTGTGAAGTTCC	0.433000													48	44					0	0	0.014410	0	0
ZNF423	23090	broad.mit.edu	37	16	49669627	49669627	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr16:49669627G>T	ENST00000561648.1	-	4	3489	c.3436C>A	c.(3436-3438)Ctc>Atc	p.L1146I	ZNF423_ENST00000567169.1_Missense_Mutation_p.L1029I|ZNF423_ENST00000562520.1_Missense_Mutation_p.L1086I|ZNF423_ENST00000535559.1_Missense_Mutation_p.L1029I|ZNF423_ENST00000562871.1_Missense_Mutation_p.L1086I|ZNF423_ENST00000262383.2_Missense_Mutation_p.L1146I|ZNF423_ENST00000563137.2_Missense_Mutation_p.L1086I	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	1146					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.L1146I(2)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				TCCGGCGTGAGGTCACGGTGG	0.662000													38	60					3.38236e-24	5.89234e-24	0.006999	1	0
LCT	3938	broad.mit.edu	37	2	136570190	136570190	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr2:136570190C>A	ENST00000264162.2	-	7	2054	c.2044G>T	c.(2044-2046)Ggt>Tgt	p.G682C		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	682	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	p.G682C(1)		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)		TGCGACAGACCCAGAAAATCA	0.537000													11	53					0.000673444	0.000710345	0.008291	1	0
EYS	346007	broad.mit.edu	37	6	66205157	66205157	+	Silent	SNP	G	G	T			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr6:66205157G>T	ENST00000503581.1	-	4	684	c.147C>A	c.(145-147)atC>atA	p.I49I	EYS_ENST00000342421.5_Silent_p.I49I|EYS_ENST00000393380.2_Silent_p.I49I|EYS_ENST00000370621.3_Silent_p.I49I|EYS_ENST00000370616.2_Silent_p.I49I|EYS_ENST00000370618.3_Silent_p.I49I	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	49					response to stimulus|visual perception	extracellular region	calcium ion binding	p.I49I(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						AGTCCAAGCAGATGTTTTCTG	0.403000													23	126					3.5997e-14	5.3099e-14	0.014323	1	0
C15orf39	56905	broad.mit.edu	37	15	75499431	75499431	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr15:75499431G>T	ENST00000360639.2	+	2	1362	c.1042G>T	c.(1042-1044)Gcc>Tcc	p.A348S	C15orf39_ENST00000567617.1_Missense_Mutation_p.A348S|C15orf39_ENST00000394987.4_Missense_Mutation_p.A348S			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	348								p.A348S(1)		autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						CTACCCCTCTGCCCCTCTCCC	0.647000													51	37					1.89013e-27	3.40046e-27	0.014410	1	0
SLC1A6	6511	broad.mit.edu	37	19	15064949	15064949	+	Silent	SNP	G	G	A			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr19:15064949G>A	ENST00000430939.2	-	7	1299	c.1170C>T	c.(1168-1170)atC>atT	p.I390I	SLC1A6_ENST00000600144.1_Silent_p.I376I|SLC1A6_ENST00000221742.3_Silent_p.I454I			P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	454					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity	p.I454I(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	CCCCTCACCTGATGGTTGTGA	0.592000													29	20					0	0	0.007291	0	0
GRIA3	2892	broad.mit.edu	37	X	122528962	122528962	+	Silent	SNP	C	C	A			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chrX:122528962C>A	ENST00000264357.5	+	6	1186	c.894C>A	c.(892-894)gcC>gcA	p.A298A	GRIA3_ENST00000371256.5_Silent_p.A298A|GRIA3_ENST00000542149.1_Silent_p.A298A|GRIA3_ENST00000541091.1_Silent_p.A282A|GRIA3_ENST00000371251.1_Silent_p.A298A	NM_000828.4	NP_000819.3	P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	298					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	p.A298A(3)		breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	TCCCTGAAGCCAAGAATGCAC	0.418000													30	82					2.81731e-10	3.68934e-10	0.010818	1	0
APOB	338	broad.mit.edu	37	2	21228767	21228767	+	Missense_Mutation	SNP	T	T	G			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr2:21228767T>G	ENST00000233242.1	-	26	11100	c.10973A>C	c.(10972-10974)cAc>cCc	p.H3658P		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	3658					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.H3658P(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	AATGTCAAGGTGTGCCTTTTC	0.433000													36	15					0	0	0.015359	0	0
MORC3	23515	broad.mit.edu	37	21	37711173	37711173	+	Missense_Mutation	SNP	A	A	G			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr21:37711173A>G	ENST00000400485.1	+	5	638	c.562A>G	c.(562-564)Att>Gtt	p.I188V	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	188					cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	aggresome|intermediate filament cytoskeleton|PML body	ATP binding|zinc ion binding	p.I188V(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						ACTTGATGCTATTATAGGCAA	0.428000													109	200					0	0	0.014410	0	0
LRRC31	79782	broad.mit.edu	37	3	169574170	169574170	+	Silent	SNP	C	C	T			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr3:169574170C>T	ENST00000316428.5	-	5	834	c.777G>A	c.(775-777)ctG>ctA	p.L259L	LRRC31_ENST00000264676.5_Silent_p.L203L|LRRC31_ENST00000523069.1_Silent_p.L259L|LRRC31_ENST00000397805.2_5'UTR	NM_001277127.1|NM_024727.2	NP_001264056.1|NP_079003.2	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31	259								p.L259L(1)		cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			AATGTAACTTCAGTACTTTCA	0.333000													20	97					0	0	0.012319	0	0
ABCB4	5244	broad.mit.edu	37	7	87037453	87037453	+	Missense_Mutation	SNP	T	T	G			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr7:87037453T>G	ENST00000265723.4	-	25	3290	c.3179A>C	c.(3178-3180)aAg>aCg	p.K1060T	ABCB4_ENST00000359206.3_Missense_Mutation_p.K1060T|ABCB4_ENST00000358400.3_Missense_Mutation_p.K1013T|ABCB4_ENST00000453593.1_Missense_Mutation_p.K1013T|ABCB4_ENST00000545634.1_Missense_Mutation_p.K1060T	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	1060	ABC transporter 2.				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	p.K1060T(1)		breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					CTGGCCTTTCTTCACCTCCAG	0.552000													5	89					0	0	0.014758	0	0
PCLO	27445	broad.mit.edu	37	7	82546048	82546048	+	Missense_Mutation	SNP	A	A	T			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr7:82546048A>T	ENST00000423517.2	-	7	11591	c.11254T>A	c.(11254-11256)Tgc>Agc	p.C3752S	PCLO_ENST00000437081.1_Missense_Mutation_p.C472S|PCLO_ENST00000333891.8_Missense_Mutation_p.C3752S	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3683					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.C3752S(2)		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						TTGGTTCTGCAGATCCTTCTC	0.458000													7	53					0	0	0.001984	0	0
MYOG	4656	broad.mit.edu	37	1	203054889	203054889	+	Silent	SNP	C	C	T			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr1:203054889C>T	ENST00000241651.4	-	1	275	c.201G>A	c.(199-201)ccG>ccA	p.P67P		NM_002479.4	NP_002470.2	P15173	MYOG_HUMAN	myogenin (myogenic factor 4)	67					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity	p.P67P(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|urinary_tract(1)	12						TACACGCCCACGGCAGGCACT	0.682000													9	112					0	0	0.008291	0	0
LAMA1	284217	broad.mit.edu	37	18	7080334	7080334	+	Silent	SNP	G	G	T			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr18:7080334G>T	ENST00000389658.3	-	2	277	c.184C>A	c.(184-186)Cga>Aga	p.R62R		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	62	Laminin N-terminal.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	p.R62R(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGTGGGTTTCGGACGGGCCGA	0.552000													24	32					3.01185e-09	3.75263e-09	0.021523	1	0
PCDH7	5099	broad.mit.edu	37	4	30725788	30725788	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr4:30725788G>A	ENST00000361762.2	+	1	3752	c.2744G>A	c.(2743-2745)gGc>gAc	p.G915D	PCDH7_ENST00000543491.1_Missense_Mutation_p.G915D	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	915					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						TATGAAGCCGGCAAAAAAGAT	0.388000													4	116					0	0	0.009096	0	0
XG	7499	broad.mit.edu	37	X	2688630	2688630	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chrX:2688630C>A	ENST00000426774.1	+	2	324	c.101C>A	c.(100-102)cCt>cAt	p.P34H	XG_ENST00000419513.2_Missense_Mutation_p.P34H|XG_ENST00000381174.5_Missense_Mutation_p.P34H	NM_001141920.1|NM_175569.2	NP_001135392.1|NP_780778.1	P55808	XG_HUMAN	Xg blood group	34						integral to membrane|plasma membrane		p.P34H(1)		endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	8		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				CTTGATGACCCTGGTAAGTGC	0.488000													30	76					1.74807e-11	2.39504e-11	0.010818	1	0
KRT33A	3883	broad.mit.edu	37	17	39506806	39506806	+	Nonsense_Mutation	SNP	C	C	A			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr17:39506806C>A	ENST00000007735.3	-	1	258	c.214G>T	c.(214-216)Gag>Tag	p.E72*		NM_004138.3	NP_004129.2	O76009	KT33A_HUMAN	keratin 33A	72	Coil 1A.|Rod.					intermediate filament	protein binding|structural molecule activity	p.E72*(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				CGCACCTTCTCCAGGTAGCTG	0.607000													34	30					9.88483e-10	1.26855e-09	0.007835	1	0
TAT	6898	broad.mit.edu	37	16	71604626	71604626	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr16:71604626C>A	ENST00000355962.4	-	8	1001	c.868G>T	c.(868-870)Ggc>Tgc	p.G290C	RP11-432I5.1_ENST00000561529.1_RNA	NM_000353.2	NP_000344.1	P17735	ATTY_HUMAN	tyrosine aminotransferase	290					2-oxoglutarate metabolic process|glutamate metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	p.G290C(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114)	AGGATCCAGCCCAACCTCCAG	0.488000													17	12					1.50039e-11	2.06304e-11	0.012319	1	0
MED12	9968	broad.mit.edu	37	X	70345265	70345265	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chrX:70345265G>A	ENST00000333646.6	+	16	2490	c.2291G>A	c.(2290-2292)cGa>cAa	p.R764Q	MED12_ENST00000374102.1_Missense_Mutation_p.R764Q|MED12_ENST00000374080.3_Missense_Mutation_p.R764Q	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	764					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	p.R764Q(2)		breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GGAAAGCAGCGAGATGATGCC	0.537000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						9	21					0	0	0.004482	0	0
KRTAP10-2	386679	broad.mit.edu	37	21	45970944	45970944	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr21:45970944G>C	ENST00000391621.1	-	1	444	c.398C>G	c.(397-399)tCt>tGt	p.S133C	KRTAP10-2_ENST00000498210.1_Intron|TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198693.2	NP_941966.1	P60368	KR102_HUMAN	keratin associated protein 10-2	133	22 X 5 AA repeats of C-C-X(3).					keratin filament				large_intestine(1)|lung(4)|skin(1)	6						GCAGGAGGAAGAGGCACAGCA	0.617000													4	113					0	0	0.009096	0	0
INSC	387755	broad.mit.edu	37	11	15243094	15243094	+	Silent	SNP	T	T	A			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr11:15243094T>A	ENST00000379554.3	+	8	1078	c.1032T>A	c.(1030-1032)gcT>gcA	p.A344A	INSC_ENST00000447214.2_3'UTR|INSC_ENST00000424273.1_Silent_p.A255A|INSC_ENST00000379556.3_Silent_p.A297A|INSC_ENST00000530161.1_Silent_p.A297A|INSC_ENST00000525218.1_Silent_p.A255A|INSC_ENST00000528567.1_Silent_p.A297A	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	344					cell differentiation|nervous system development	cytoplasm	binding	p.A344A(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						GGGCTGAGGCTGCGGCTGTGG	0.637000													35	31					0	0	0.017118	0	0
HAUS7	55559	broad.mit.edu	37	X	152721026	152721026	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chrX:152721026G>A	ENST00000370219.3	-	8	1491	c.934C>T	c.(934-936)Cac>Tac	p.H312Y	HAUS7_ENST00000370211.4_Missense_Mutation_p.H302Y|TREX2_ENST00000370232.1_5'UTR|HAUS7_ENST00000421080.2_Silent_p.R133R|HAUS7_ENST00000484394.1_5'UTR|TREX2_ENST00000330912.2_5'UTR|TREX2_ENST00000338525.2_5'UTR|HAUS7_ENST00000370212.3_Missense_Mutation_p.H312Y|TREX2_ENST00000334497.2_5'UTR	NM_017518.6	NP_059988.3	Q99871	HAUS7_HUMAN	HAUS augmin-like complex, subunit 7	312					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleolus|plasma membrane|spindle	thioesterase binding	p.H312Y(1)		endometrium(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)	19						AGATTCTGGTGCGTGGCCTGG	0.602000													7	43					0	0	0.001984	0	0
UGT2B15	7366	broad.mit.edu	37	4	69513061	69513061	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr4:69513061C>A	ENST00000338206.5	-	6	1363	c.1354G>T	c.(1354-1356)Gac>Tac	p.D452Y		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	452					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.D452Y(1)|p.D452N(1)									ATTGGTTGGTCATGATGAATT	0.388000													31	86					3.62531e-18	5.86447e-18	0.019004	1	0
XRCC5	7520	broad.mit.edu	37	2	216981433	216981433	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr2:216981433G>T	ENST00000392133.3	+	5	648	c.187G>T	c.(187-189)Ggc>Tgc	p.G63C	XRCC5_ENST00000392132.2_Missense_Mutation_p.G63C			P13010	XRCC5_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)	63					double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent	Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm	ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding	p.G63C(1)		endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)		TGGTACAGATGGCACTGACAA	0.418000								Non-homologous end-joining					28	71					2.41591e-17	3.77243e-17	0.004656	1	0
SEC61G	23480	broad.mit.edu	37	7	54825215	54825215	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr7:54825215T>C	ENST00000415949.1	-	3	433	c.67A>G	c.(67-69)Aaa>Gaa	p.K23E	SEC61G_ENST00000352861.4_Missense_Mutation_p.K23E|SEC61G_ENST00000395535.3_Missense_Mutation_p.K23E|SEC61G_ENST00000450622.1_Missense_Mutation_p.K23E			P60059	SC61G_HUMAN	Sec61 gamma subunit	23					protein targeting to ER	endoplasmic reticulum membrane|integral to membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity	p.K23E(1)		kidney(1)|lung(5)	6	Esophageal squamous(2;7.55e-08)|Breast(14;0.0654)		Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)			GTGCATCTTTTAACCAGCCGA	0.358000													39	90					0	0	0.007835	0	0
MAGEB16	139604	broad.mit.edu	37	X	35820780	35820780	+	Missense_Mutation	SNP	T	T	A			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chrX:35820780T>A	ENST00000399989.1	+	2	746	c.467T>A	c.(466-468)cTg>cAg	p.L156Q	MAGEB16_ENST00000399988.1_Missense_Mutation_p.L156Q|MAGEB16_ENST00000399992.1_Missense_Mutation_p.L188Q|MAGEB16_ENST00000399985.1_Missense_Mutation_p.L156Q|MAGEB16_ENST00000399987.1_Missense_Mutation_p.L156Q	NM_001099921.1	NP_001093391.1	A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	156	MAGE.							p.L323R(1)|p.L323Q(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						GAGATCCTCCTGAGAGCTTCT	0.468000													16	60					0	0	0.004007	0	0
NLRC5	84166	broad.mit.edu	37	16	57111855	57111855	+	Splice_Site	SNP	G	G	T			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr16:57111855G>T	ENST00000262510.6	+	43	5229	c.5003_splice	c.e43-1	p.M1668_splice	NLRC5_ENST00000436936.1_3'UTR|NLRC5_ENST00000308149.7_Splice_Site_p.M1639_splice|NLRC5_ENST00000539144.1_Splice_Site_p.M1639_splice	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1668					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding	p.M1668I(1)		NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				CCTCTTCCAGGCTTGGCTGCA	0.677000													8	21					6.40141e-05	7.00154e-05	0.010729	1	0
PCNXL2	80003	broad.mit.edu	37	1	233122108	233122108	+	Silent	SNP	C	C	T			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr1:233122108C>T	ENST00000258229.8	-	33	6204	c.5970G>A	c.(5968-5970)tcG>tcA	p.S1990S	PCNXL2_ENST00000344698.2_Silent_p.S642S	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1990	Ser-rich.					integral to membrane		p.S1990S(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GGGACGTGGCCGAGGCGTGCA	0.687000													13	9					0	0	0.016723	0	0
ADCY8	114	broad.mit.edu	37	8	131792865	131792865	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr8:131792865G>T	ENST00000286355.5	-	18	5619	c.3527C>A	c.(3526-3528)cCc>cAc	p.P1176H	ADCY8_ENST00000377928.3_Missense_Mutation_p.P1045H	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	1176					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	p.P1176H(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GAATGGGTTGGGTTGGACTCT	0.517000										HNSCC(32;0.087)			58	74					1.54043e-34	2.86506e-34	0.014410	1	0
CENPB	1059	broad.mit.edu	37	20	3766048	3766048	+	Silent	SNP	G	G	A			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr20:3766048G>A	ENST00000379751.4	-	1	1289	c.1083C>T	c.(1081-1083)ctC>ctT	p.L361L		NM_001810.5	NP_001801.1	P07199	CENPB_HUMAN	centromere protein B, 80kDa	361					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|satellite DNA binding	p.L361L(1)		kidney(1)|large_intestine(2)|lung(4)|skin(1)	8						GGGCCTCCGTGAGACCCAGCT	0.662000													3	8					0	0	0.004672	0	0
ABCA2	20	broad.mit.edu	37	9	139910907	139910907	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr9:139910907C>A	ENST00000265662.5	-	21	3087	c.2940G>T	c.(2938-2940)atG>atT	p.M980I	ABCA2_ENST00000371605.3_Missense_Mutation_p.M979I|ABCA2_ENST00000341511.6_Missense_Mutation_p.M980I			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	979					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.M980I(1)		central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GCTCCTCCTCCATGCCACGGG	0.642000													14	120					0.000219431	0.000236642	0.020292	1	0
TTN	7273	broad.mit.edu	37	2	179588619	179588619	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr2:179588619C>A	ENST00000589042.1	-	73	21591	c.21367G>T	c.(21367-21369)Ggg>Tgg	p.G7123W	TTN_ENST00000591111.1_Missense_Mutation_p.G6806W|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.G5879W|RP11-171I2.1_ENST00000590024.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6806	Ig-like 53.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.G5879W(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCATCAGACCCAGCGACATTA	0.423000													16	48					1.15088e-07	1.37179e-07	0.004007	1	0
MCC	4163	broad.mit.edu	37	5	112720711	112720711	+	Silent	SNP	C	C	A			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr5:112720711C>A	ENST00000408903.3	-	2	784	c.369G>T	c.(367-369)ctG>ctT	p.L123L	CTD-2201G3.1_ENST00000416046.2_RNA	NM_001085377.1	NP_001078846.1	P23508	CRCM_HUMAN	mutated in colorectal cancers	0					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity	p.L123L(1)		endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		TTCTATCCCTCAGCTTCTTTG	0.478000													33	28					4.74835e-14	6.97754e-14	0.010818	1	0
MYO16	23026	broad.mit.edu	37	13	109707460	109707460	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr13:109707460G>A	ENST00000356711.2	+	26	3175	c.3049G>A	c.(3049-3051)Gca>Aca	p.A1017T	MYO16_ENST00000457511.2_Missense_Mutation_p.A529T|MYO16_ENST00000357550.2_Missense_Mutation_p.A1017T	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	1017	Myosin head-like 2.				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	p.A1017T(1)		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)			AGTCACCATAGCATCACAACT	0.328000													7	26					0	0	0.006214	0	0
CC2D2B	387707	broad.mit.edu	37	10	97763952	97763952	+	Nonsense_Mutation	SNP	A	A	T			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr10:97763952A>T	ENST00000371198.2	+	11	1281	c.241A>T	c.(241-243)Aaa>Taa	p.K81*	ENTPD1-AS1_ENST00000454638.1_RNA|RP11-690P14.4_ENST00000475252.2_3'UTR|ENTPD1-AS1_ENST00000452728.1_RNA|CC2D2B_ENST00000344386.3_5'UTR|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1-AS1_ENST00000451364.1_RNA|CC2D2B_ENST00000410012.2_5'UTR			Q6DHV5	C2D2B_HUMAN	coiled-coil and C2 domain containing 2B	0										large_intestine(1)|lung(7)|ovary(1)|urinary_tract(1)	10		Colorectal(252;0.158)		Epithelial(162;7.08e-08)|all cancers(201;2.71e-06)		ATCTAAAATAAAAGATAACAT	0.274000													29	19					0	0	0.006320	0	0
GBA3	57733	broad.mit.edu	37	4	22729490	22729490	+	RNA	SNP	A	A	T			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr4:22729490A>T	ENST00000503442.1	+	0	149				GBA3_ENST00000508166.1_RNA|GBA3_ENST00000511446.1_RNA	NM_001128432.2	NP_001121904.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						ATTCCGATGGAAATTTGTTTG	0.393000													53	53					0	0	0.014410	0	0
CCDC73	493860	broad.mit.edu	37	11	32663549	32663549	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr11:32663549T>C	ENST00000335185.5	-	13	1062	c.1019A>G	c.(1018-1020)cAt>cGt	p.H340R	CCDC73_ENST00000534415.1_5'UTR	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	340								p.H340R(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					TGCTTTTTCATGCTCATTTTG	0.249000													7	26					0	0	0.003080	0	0
PLS3	5358	broad.mit.edu	37	X	114863589	114863589	+	Missense_Mutation	SNP	T	T	A			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chrX:114863589T>A	ENST00000420625.2	+	4	451	c.317T>A	c.(316-318)cTg>cAg	p.L106Q	PLS3_ENST00000355899.3_Missense_Mutation_p.L106Q|PLS3_ENST00000289290.3_Missense_Mutation_p.L61Q|PLS3_ENST00000539310.1_Missense_Mutation_p.L61Q|PLS3_ENST00000537301.1_Missense_Mutation_p.L84Q	NM_001136025.3|NM_001172335.1	NP_001129497.1|NP_001165806.1	P13797	PLST_HUMAN	plastin 3	106						cytoplasm	actin binding|calcium ion binding	p.L106Q(1)		NS(2)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)	26						ATTTGTGCTCTGGGTGGAACT	0.373000													27	57					0	0	0.006320	0	0
MUC16	94025	broad.mit.edu	37	19	9067932	9067932	+	Missense_Mutation	SNP	A	A	T			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr19:9067932A>T	ENST00000397910.4	-	3	19717	c.19514T>A	c.(19513-19515)gTg>gAg	p.V6505E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6507	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.V6505E(2)|p.V2138E(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGTTTTTTCCACAGAGGGTGG	0.473000													6	26					0	0	0.001168	0	0
SLC37A3	84255	broad.mit.edu	37	7	140035151	140035151	+	Missense_Mutation	SNP	A	A	T			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr7:140035151A>T	ENST00000340308.3	-	12	1355	c.1244T>A	c.(1243-1245)gTc>gAc	p.V415D	SLC37A3_ENST00000447932.2_3'UTR|SLC37A3_ENST00000326232.9_3'UTR	NM_032295.2	NP_115671.1	Q8NCC5	SPX3_HUMAN	solute carrier family 37, member 3	0					carbohydrate transport|transmembrane transport	integral to membrane		p.V415D(1)		endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|stomach(3)	24	Melanoma(164;0.0142)					ATTAGGGCAGACTCGAAGCCC	0.552000													8	55					0	0	0.003080	0	0
CD180	4064	broad.mit.edu	37	5	66492422	66492422	+	Silent	SNP	G	G	T	rs146337741		TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr5:66492422G>T	ENST00000256447.4	-	1	205	c.48C>A	c.(46-48)gcC>gcA	p.A16A		NM_005582.2	NP_005573.2	Q99467	CD180_HUMAN	CD180 molecule	16					inflammatory response|innate immune response	integral to membrane|plasma membrane	receptor activity	p.A16A(1)		cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		CTTTACAGCCGGCAGAAAACA	0.448000													108	59					1.37938e-74	2.6553e-74	0.014410	1	0
KSR2	283455	broad.mit.edu	37	12	117907527	117907527	+	Missense_Mutation	SNP	T	T	A			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr12:117907527T>A	ENST00000425217.1	-	19	2753	c.2699A>T	c.(2698-2700)gAg>gTg	p.E900V	KSR2_ENST00000302438.5_3'UTR|KSR2_ENST00000339824.5_Missense_Mutation_p.E929V	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	929	Protein kinase.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	p.E961V(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGGCAGTTTCTCCAGCATGTC	0.483000													15	11					0	0	0.004007	0	0
NAV3	89795	broad.mit.edu	37	12	78443851	78443851	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr12:78443851C>A	ENST00000397909.2	+	10	2275	c.2102C>A	c.(2101-2103)tCc>tAc	p.S701Y	NAV3_ENST00000228327.6_Missense_Mutation_p.S701Y|NAV3_ENST00000266692.7_Missense_Mutation_p.S701Y|NAV3_ENST00000536525.2_Missense_Mutation_p.S701Y			Q8IVL0	NAV3_HUMAN	neuron navigator 3	701						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	p.S701Y(1)		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						GAGACTATGTCCAGTCTTCGT	0.328000										HNSCC(70;0.22)			25	19					4.22769e-11	5.69113e-11	0.006320	1	0
GPC5	2262	broad.mit.edu	37	13	92797141	92797141	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr13:92797141G>T	ENST00000377067.3	+	7	1832	c.1460G>T	c.(1459-1461)gGt>gTt	p.G487V		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	487						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	p.G487V(1)		NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				CTGGGCAGTGGTGGAGGCATG	0.463000													25	55					8.24728e-16	1.25008e-15	0.004656	1	0
ADAMTSL1	92949	broad.mit.edu	37	9	18574147	18574147	+	Silent	SNP	T	T	C			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr9:18574147T>C	ENST00000380548.4	+	4	696	c.357T>C	c.(355-357)tgT>tgC	p.C119C	ADAMTSL1_ENST00000431052.2_Silent_p.C119C|ADAMTSL1_ENST00000380570.4_Silent_p.C119C|ADAMTSL1_ENST00000380566.4_Silent_p.C119C|ADAMTSL1_ENST00000276935.6_Silent_p.C119C|ADAMTSL1_ENST00000327883.7_Silent_p.C119C	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	119						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	p.C119C(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		ACAACCCATGTTCACTCAAGT	0.458000													42	94					0	0	0.014410	0	0
GALNT14	79623	broad.mit.edu	37	2	31189075	31189075	+	Silent	SNP	G	G	T			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr2:31189075G>T	ENST00000349752.5	-	3	1032	c.393C>A	c.(391-393)atC>atA	p.I131I	GALNT14_ENST00000420311.2_Silent_p.I96I|GALNT14_ENST00000406653.1_Silent_p.I111I|GALNT14_ENST00000356174.3_Intron|GALNT14_ENST00000324589.5_Silent_p.I136I	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)	131	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.I131I(1)		cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					CTCACCTGCGGATGGTCCTGA	0.602000													19	10					7.45023e-12	1.0355e-11	0.010504	1	0
ABCB10	23456	broad.mit.edu	37	1	229675222	229675222	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr1:229675222C>A	ENST00000344517.4	-	6	1362	c.1320G>T	c.(1318-1320)tgG>tgT	p.W440C		NM_012089.2	NP_036221.2	Q9NRK6	ABCBA_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 10	440	ABC transmembrane type-1.					integral to mitochondrial membrane|mitochondrial inner membrane	ATP binding|oligopeptide-transporting ATPase activity	p.W440C(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)	31	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)				TTATTCCAACCCAGAAAGCAT	0.423000													55	71					4.17463e-26	7.33896e-26	0.014410	1	0
ASXL3	80816	broad.mit.edu	37	18	31323882	31323882	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr18:31323882C>A	ENST00000269197.5	+	12	4070	c.4070C>A	c.(4069-4071)tCt>tAt	p.S1357Y		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1357	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	p.S1357Y(1)		breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TCCACTAGCTCTGTCTTGATT	0.468000											OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	75	64					6.06247e-24	1.05137e-23	0.014410	1	0
FASTKD3	79072	broad.mit.edu	37	5	7866830	7866830	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr5:7866830G>A	ENST00000264669.5	-	2	1503	c.1367C>T	c.(1366-1368)tCa>tTa	p.S456L	MTRR_ENST00000502509.1_Intron|FASTKD3_ENST00000513658.1_Intron	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	456					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	p.S456L(1)|p.S456*(1)		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						TTCATTAAGTGAACATGAATG	0.368000													13	182					0	0	0.013537	0	0
NTNG1	22854	broad.mit.edu	37	1	107867366	107867366	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr1:107867366C>A	ENST00000370067.1	+	3	1336	c.709C>A	c.(709-711)Cta>Ata	p.L237I	NTNG1_ENST00000370068.1_Missense_Mutation_p.L237I|NTNG1_ENST00000370070.2_Missense_Mutation_p.L237I|NTNG1_ENST00000370073.2_Missense_Mutation_p.L237I|NTNG1_ENST00000370072.3_Missense_Mutation_p.L237I|NTNG1_ENST00000477948.1_3'UTR|NTNG1_ENST00000370074.4_Missense_Mutation_p.L237I|NTNG1_ENST00000370071.2_Missense_Mutation_p.L237I|NTNG1_ENST00000542803.1_Missense_Mutation_p.L237I|NTNG1_ENST00000370061.3_Missense_Mutation_p.L237I|NTNG1_ENST00000370065.1_Missense_Mutation_p.L237I|NTNG1_ENST00000370066.1_Missense_Mutation_p.L237I			Q9Y2I2	NTNG1_HUMAN	netrin G1	237	Laminin N-terminal.				axonogenesis	anchored to plasma membrane	protein binding	p.L237I(3)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		TGGACCTCGCCTACGCAATAT	0.428000													15	32					0.000219431	0.000236642	0.020292	1	0
MEP1A	4224	broad.mit.edu	37	6	46806780	46806780	+	Silent	SNP	C	C	A			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr6:46806780C>A	ENST00000230588.4	+	14	2157	c.2148C>A	c.(2146-2148)ggC>ggA	p.G716G		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	716					digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding	p.G716G(1)		NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			AGGTGCACGGCAGTGTCCTGG	0.577000													27	140					1.75199e-13	2.52627e-13	0.007291	1	0
DCAF12L1	139170	broad.mit.edu	37	X	125686176	125686176	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chrX:125686176C>A	ENST00000371126.1	-	1	658	c.416G>T	c.(415-417)aGt>aTt	p.S139I		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	139								p.S139I(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						CCTGGCCTCACTGTCCCGCAA	0.632000													20	44					2.70639e-06	3.15746e-06	0.014323	1	0
TNFRSF11A	8792	broad.mit.edu	37	18	60036389	60036389	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr18:60036389G>T	ENST00000586569.1	+	9	1277	c.1239G>T	c.(1237-1239)tgG>tgT	p.W413C	TNFRSF11A_ENST00000269485.7_Intron	NM_003839.2	NP_003830.1	Q9Y6Q6	TNR11_HUMAN	tumor necrosis factor receptor superfamily, member 11a, NFKB activator	413					adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide	external side of plasma membrane|integral to membrane	metal ion binding|tumor necrosis factor receptor activity	p.W413C(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29		Colorectal(73;0.188)				GGACTGATTGGACTCCCATGT	0.567000													24	18					1.64293e-13	2.37793e-13	0.018920	1	0
ZNF572	137209	broad.mit.edu	37	8	125989475	125989475	+	Missense_Mutation	SNP	A	A	T			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr8:125989475A>T	ENST00000319286.5	+	3	1119	c.965A>T	c.(964-966)cAt>cTt	p.H322L		NM_152412.2	NP_689625.2	Q7Z3I7	ZN572_HUMAN	zinc finger protein 572	322					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H322L(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			CAGAGAATACATACAGGAGAA	0.403000										HNSCC(60;0.17)			21	55					0	0	0.008871	0	0
ZPBP	11055	broad.mit.edu	37	7	50129290	50129290	+	Missense_Mutation	SNP	C	C	A	rs148222395		TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr7:50129290C>A	ENST00000046087.2	-	2	212	c.143G>T	c.(142-144)cGa>cTa	p.R48L	ZPBP_ENST00000419417.1_Missense_Mutation_p.R48L	NM_001159878.1|NM_007009.2	NP_001153350.1|NP_008940.2	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein	48					binding of sperm to zona pellucida	extracellular region		p.R48L(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					TCTTGGTAATCGAACCAAGTG	0.284000													7	23					0.00307968	0.00320453	0.003080	1	0
KRTAP4-3	85290	broad.mit.edu	37	17	39324029	39324029	+	Silent	SNP	G	G	T			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr17:39324029G>T	ENST00000391356.2	-	1	395	c.396C>A	c.(394-396)ccC>ccA	p.P132P		NM_033187.1	NP_149443.1	Q9BYR4	KRA43_HUMAN	keratin associated protein 4-3	132	29 X 5 AA repeats of C-C-[GIKRQVH]-[SPT]- [STA].		Missing (in allele KAP3-v2).			keratin filament		p.P132P(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	12		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			TACAGCAGCTGGGGCGGCAGC	0.622000													8	3					0.000442599	0.000474654	0.006214	1	0
SLC9C2	284525	broad.mit.edu	37	1	173505044	173505044	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr1:173505044C>T	ENST00000367714.3	-	15	2122	c.1700G>A	c.(1699-1701)aGt>aAt	p.S567N	SLC9C2_ENST00000466087.1_5'UTR|SLC9C2_ENST00000536496.1_Intron	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member C2 (putative)	567					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity	p.S567N(1)									TATAAGCCAACTTCTAGTTCT	0.264000													4	36					0	0	0.009096	0	0
FLNA	2316	broad.mit.edu	37	X	153590914	153590914	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chrX:153590914C>T	ENST00000422373.1	-	17	2685	c.2437G>A	c.(2437-2439)Gga>Aga	p.G813R	FLNA_ENST00000344736.4_Missense_Mutation_p.G813R|FLNA_ENST00000360319.4_Missense_Mutation_p.G813R|FLNA_ENST00000369850.3_Missense_Mutation_p.G813R	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	813					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	p.G813R(1)		breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCTACCACTCCAGGGGCACAC	0.652000													23	115					0	0	0.021523	0	0
LCT	3938	broad.mit.edu	37	2	136594342	136594342	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr2:136594342T>C	ENST00000264162.2	-	1	408	c.398A>G	c.(397-399)cAc>cGc	p.H133R		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	133	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	p.H133R(1)		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)		GAGGGTCTGGTGGTGCAGGAT	0.597000													10	26					0	0	0.010729	0	0
TBX15	6913	broad.mit.edu	37	1	119427378	119427378	+	Nonsense_Mutation	SNP	G	G	A			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr1:119427378G>A	ENST00000369429.3	-	8	1795	c.1786C>T	c.(1786-1788)Cag>Tag	p.Q596*	TBX15_ENST00000207157.3_Nonsense_Mutation_p.Q490*			Q96SF7	TBX15_HUMAN	T-box 15	596						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.Q490*(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		ACGGACATCTGGGAGGAGGAG	0.552000													22	63					0	0	0.012319	0	0
MRGPRE	116534	broad.mit.edu	37	11	3249776	3249776	+	Missense_Mutation	SNP	A	A	C			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr11:3249776A>C	ENST00000389832.5	-	2	560	c.254T>G	c.(253-255)cTg>cGg	p.L85R	MRGPRE_ENST00000436689.2_Missense_Mutation_p.L84R|AC109309.4_ENST00000418995.2_RNA			Q86SM8	MRGRE_HUMAN	MAS-related GPR, member E	84						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.L84R(1)		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)		CCGGCCTTGCAGCAAGTCGGG	0.627000													25	32					0	0	0.005443	0	0
EYA4	2070	broad.mit.edu	37	6	133785997	133785997	+	Splice_Site	SNP	G	G	A			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr6:133785997G>A	ENST00000367895.5	+	10	1268		c.e10+1		EYA4_ENST00000355286.6_Splice_Site|EYA4_ENST00000525849.1_Splice_Site|EYA4_ENST00000355167.3_Splice_Site|EYA4_ENST00000452339.2_Splice_Site|EYA4_ENST00000431403.2_Splice_Site|EYA4_ENST00000430974.2_Splice_Site|EYA4_ENST00000531901.1_Splice_Site	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	eyes absent homolog 4 (Drosophila)						anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	p.?(2)		breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		TTCACAACAGGTATAGTAGCT	0.323000													6	22					0	0	0.001168	0	0
ELMO1	9844	broad.mit.edu	37	7	36927225	36927225	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr7:36927225G>T	ENST00000310758.4	-	18	2301	c.1654C>A	c.(1654-1656)Cgc>Agc	p.R552S	ELMO1_ENST00000396045.3_Missense_Mutation_p.R72S|ELMO1_ENST00000341056.3_Missense_Mutation_p.R254S|ELMO1_ENST00000442504.1_Missense_Mutation_p.R552S|ELMO1_ENST00000448602.1_Missense_Mutation_p.R552S|ELMO1_ENST00000396040.2_Missense_Mutation_p.R72S	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	552					actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding	p.R552S(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						CGGTTCAGGCGTTGCTGTTTG	0.473000													34	66					2.40579e-17	3.77243e-17	0.006230	1	0
CEP89	84902	broad.mit.edu	37	19	33422323	33422323	+	Silent	SNP	C	C	T			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr19:33422323C>T	ENST00000590597.1	-	9	1129	c.1041G>A	c.(1039-1041)ccG>ccA	p.P347P	CEP89_ENST00000305768.4_Intron			Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa	0						centrosome|spindle pole				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						TTTTCACAATCGGAAACGTTA	0.328000													5	86					0	0	0.014758	0	0
CD5L	922	broad.mit.edu	37	1	157805682	157805682	+	Nonsense_Mutation	SNP	C	C	A			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr1:157805682C>A	ENST00000368174.4	-	3	415	c.319G>T	c.(319-321)Gag>Tag	p.E107*		NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	107	SRCR 1.				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity	p.E107*(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TCTTCTTGCTCACACTGAGCC	0.483000													61	368					1.19403e-26	2.11845e-26	0.014410	1	0
CUBN	8029	broad.mit.edu	37	10	17146427	17146427	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr10:17146427G>A	ENST00000377833.4	-	12	1473	c.1408C>T	c.(1408-1410)Cct>Tct	p.P470S		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	470					cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	p.P470S(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CCTTGCTGAGGAACCTGACAG	0.488000													11	25					0	0	0.013537	0	0
WNK3	65267	broad.mit.edu	37	X	54224971	54224971	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chrX:54224971G>A	ENST00000354646.2	-	24	5627	c.5189C>T	c.(5188-5190)cCa>cTa	p.P1730L	WNK3_ENST00000375169.3_Missense_Mutation_p.P1673L|WNK3_ENST00000375159.2_Missense_Mutation_p.P1730L	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	1673					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity	p.P1730I(1)		autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						TGATGATAATGGCCCAGGAAA	0.488000													25	30					0	0	0.005443	0	0
PROM2	150696	broad.mit.edu	37	2	95941743	95941743	+	Silent	SNP	G	G	T			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr2:95941743G>T	ENST00000317620.9	+	3	493	c.360G>T	c.(358-360)gtG>gtT	p.V120V	PROM2_ENST00000463580.1_Intron|PROM2_ENST00000317668.4_Silent_p.V120V|PROM2_ENST00000542147.1_Silent_p.V120V|PROM2_ENST00000403131.2_Silent_p.V120V	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	120						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane		p.V120V(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						TGCTGCTGGTGCCCACTGCCG	0.701000													6	33					0.00116845	0.0012291	0.001168	1	0
CYP11B1	1584	broad.mit.edu	37	8	143960556	143960556	+	Missense_Mutation	SNP	T	T	G			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr8:143960556T>G	ENST00000292427.4	-	2	319	c.287A>C	c.(286-288)gAc>gCc	p.D96A	CYP11B1_ENST00000377675.3_Missense_Mutation_p.D141A|CYP11B1_ENST00000517471.1_Missense_Mutation_p.D96A	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	96					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity	p.D96A(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	CTTCTCCACGTCCTCCGGCAG	0.632000									Familial Hyperaldosteronism type I				8	83					0	0	0.004482	0	0
TRERF1	55809	broad.mit.edu	37	6	42236542	42236542	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr6:42236542G>T	ENST00000541110.1	-	5	1355	c.787C>A	c.(787-789)Cag>Aag	p.Q263K	TRERF1_ENST00000340840.2_Missense_Mutation_p.Q263K|TRERF1_ENST00000354325.2_Missense_Mutation_p.Q263K|TRERF1_ENST00000372922.4_Missense_Mutation_p.Q263K|TRERF1_ENST00000372917.4_Missense_Mutation_p.Q263K			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	263	Gln-rich.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	p.Q263K(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TGCTGCATCTGTTGCATGTGC	0.567000													23	100					1.22574e-08	1.51253e-08	0.014323	1	0
OR4C15	81309	broad.mit.edu	37	11	55322373	55322373	+	Silent	SNP	G	G	A			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr11:55322373G>A	ENST00000314644.2	+	1	591	c.591G>A	c.(589-591)ctG>ctA	p.L197L		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	143					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L197L(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						GTGGCATTCTGATGGGGGTAG	0.473000										HNSCC(20;0.049)			37	40					0	0	0.005524	0	0
PLD1	5337	broad.mit.edu	37	3	171329425	171329425	+	Splice_Site	SNP	C	C	A			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr3:171329425C>A	ENST00000340989.4	-	26	2998		c.e26-1		PLD1_ENST00000356327.5_Intron|PLD1_ENST00000351298.4_Intron|PLD1_ENST00000342215.6_Intron			Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific						cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	CATTTTAGACCTGAAAACAGA	0.363000													24	25					1.17739e-12	1.67268e-12	0.005443	1	0
INPP4B	8821	broad.mit.edu	37	4	143045795	143045795	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr4:143045795G>T	ENST00000513000.1	-	20	2272	c.1839C>A	c.(1837-1839)agC>agA	p.S613R	INPP4B_ENST00000508116.1_Missense_Mutation_p.S613R|INPP4B_ENST00000262992.4_Missense_Mutation_p.S613R|INPP4B_ENST00000308502.4_Missense_Mutation_p.S613R|INPP4B_ENST00000509777.1_Missense_Mutation_p.S613R	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	613					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	p.S613R(1)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					ACTGGGGCAAGCTGTACGCAA	0.498000													20	24					0.000132079	0.000143645	0.008871	1	0
TCL1B	9623	broad.mit.edu	37	14	96157078	96157078	+	Missense_Mutation	SNP	A	A	C			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr14:96157078A>C	ENST00000340722.7	+	2	219	c.168A>C	c.(166-168)gaA>gaC	p.E56D	RP11-1070N10.6_ENST00000461160.1_RNA	NM_004918.3	NP_004909.1	O95988	TCL1B_HUMAN	T-cell leukemia/lymphoma 1B	56								p.E56D(1)		cervix(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(154;0.103)		COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248)		TTCAGTATGAACCCAGCATCA	0.602000													5	145					0	0	0.001168	0	0
LRP6	4040	broad.mit.edu	37	12	12340001	12340001	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr12:12340001C>T	ENST00000261349.4	-	4	776	c.700G>A	c.(700-702)Gag>Aag	p.E234K	LRP6_ENST00000543091.1_Missense_Mutation_p.E234K	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	234	Beta-propeller 1.				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding	p.E234K(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				AATATGTCCTCAAATAACGTC	0.393000													29	39					0	0	0.006320	0	0
GPR15	2838	broad.mit.edu	37	3	98251936	98251936	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr3:98251936G>T	ENST00000284311.3	+	1	1194	c.1059G>T	c.(1057-1059)agG>agT	p.R353S		NM_005290.1	NP_005281.1	P49685	GPR15_HUMAN	G protein-coupled receptor 15	353						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.R353S(1)		endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)		Lung(72;0.246)		TTGCCAGGAGGAGGAAGAGGT	0.438000													12	56					6.40141e-05	7.00154e-05	0.010729	1	0
ARPP21	10777	broad.mit.edu	37	3	35778767	35778767	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr3:35778767G>T	ENST00000187397.4	+	16	2013	c.1557G>T	c.(1555-1557)caG>caT	p.Q519H	ARPP21_ENST00000444190.1_Missense_Mutation_p.Q465H|ARPP21_ENST00000337271.5_Missense_Mutation_p.Q465H|ARPP21_ENST00000458225.1_Missense_Mutation_p.Q485H|ARPP21_ENST00000417925.1_Missense_Mutation_p.Q485H	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	519	Gln-rich.					cytoplasm	nucleic acid binding	p.Q519H(1)		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						AGTCCCAACAGCAGCCACCAC	0.647000													27	32					9.86323e-18	1.58223e-17	0.021523	1	0
CPNE4	131034	broad.mit.edu	37	3	131254166	131254166	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr3:131254166G>A	ENST00000512055.1	-	20	3673	c.1547C>T	c.(1546-1548)cCa>cTa	p.P516L	CPNE4_ENST00000429747.1_Missense_Mutation_p.P516L|CPNE4_ENST00000511604.1_Missense_Mutation_p.P516L|CPNE4_ENST00000502818.1_Missense_Mutation_p.P534L|CPNE4_ENST00000503204.1_5'UTR|CPNE4_ENST00000512332.1_Missense_Mutation_p.P534L			Q96A23	CPNE4_HUMAN	copine IV	516								p.P516L(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						CAGGGCAGCTGGAGATGCCTG	0.453000													17	45					0	0	0.004990	0	0
ZAP70	7535	broad.mit.edu	37	2	98341688	98341688	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr2:98341688C>T	ENST00000264972.5	+	4	751	c.536C>T	c.(535-537)tCt>tTt	p.S179F	ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000442208.1_Missense_Mutation_p.S53F	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	179	SH2 2.				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity	p.S179F(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						AAACTTTACTCTGGGGCGCAG	0.652000													6	109					0	0	0.001168	0	0
OR2T8	343172	broad.mit.edu	37	1	248084593	248084593	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr1:248084593C>A	ENST00000319968.4	+	1	274	c.274C>A	c.(274-276)Cgc>Agc	p.R92S		NM_001005522.1	NP_001005522.1	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T, member 8	92					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R92S(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GGCCATCTCCCGCGCTGGCTG	0.582000													16	17					5.60225e-13	8.01809e-13	0.009535	1	0
TRPA1	8989	broad.mit.edu	37	8	72969995	72969995	+	Silent	SNP	A	A	T			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr8:72969995A>T	ENST00000262209.4	-	9	1257	c.1050T>A	c.(1048-1050)acT>acA	p.T350T		NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	350						integral to plasma membrane		p.T350T(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	ATGCAGAAGCAGTTGCTAATA	0.373000													15	52					0	0	0.004990	0	0
MXRA5	25878	broad.mit.edu	37	X	3240143	3240143	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chrX:3240143G>T	ENST00000217939.6	-	5	3737	c.3583C>A	c.(3583-3585)Caa>Aaa	p.Q1195K		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1195						extracellular region		p.Q1195K(2)		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)				CTCTCCACTTGACTTGAAATC	0.473000													41	59					4.92203e-23	8.42213e-23	0.006230	1	0
USH2A	7399	broad.mit.edu	37	1	215844561	215844561	+	Missense_Mutation	SNP	T	T	G			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr1:215844561T>G	ENST00000366943.2	-	64	14272	c.13886A>C	c.(13885-13887)gAg>gCg	p.E4629A	USH2A_ENST00000307340.3_Missense_Mutation_p.E4629A			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4629					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.E4629A(1)		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)		AGGTGCAATCTCAGGGGTCTG	0.493000										HNSCC(13;0.011)			15	112					0	0	0.003163	0	0
PRKACB	5567	broad.mit.edu	37	1	84700881	84700881	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr1:84700881C>A	ENST00000370689.2	+	10	1213	c.949C>A	c.(949-951)Cca>Aca	p.P317T	PRKACB_ENST00000394838.2_Missense_Mutation_p.P324T|PRKACB_ENST00000370685.3_Missense_Mutation_p.P364T|PRKACB_ENST00000370682.3_Missense_Mutation_p.P321T|PRKACB_ENST00000394839.2_Missense_Mutation_p.P287T	NM_001242862.1|NM_002731.2	NP_001229791.1|NP_002722.1	P22694	KAPCB_HUMAN	protein kinase, cAMP-dependent, catalytic, beta	317	AGC-kinase C-terminal.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|regulation of insulin secretion|synaptic transmission|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|magnesium ion binding|protein binding	p.P324T(1)|p.P317T(1)|p.P364T(1)		breast(1)|endometrium(2)|kidney(1)|lung(11)|ovary(1)	16				all cancers(265;0.00536)|Epithelial(280;0.0161)|OV - Ovarian serous cystadenocarcinoma(397;0.141)		TCCATTCATACCAAAGTTTAG	0.343000													31	56					2.1956e-27	3.93165e-27	0.019004	1	0
DHX16	8449	broad.mit.edu	37	6	30633333	30633333	+	Nonsense_Mutation	SNP	C	C	A			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr6:30633333C>A	ENST00000376442.3	-	5	1039	c.844G>T	c.(844-846)Gag>Tag	p.E282*		NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	282					mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity	p.E282*(1)		kidney(2)|ovary(2)	4						GCCCGGTACTCCCGGGCGAGA	0.627000													32	41					2.46105e-21	4.11959e-21	0.010818	1	0
PNLIPRP3	119548	broad.mit.edu	37	10	118202626	118202626	+	Silent	SNP	C	C	A			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr10:118202626C>A	ENST00000369230.3	+	3	410	c.264C>A	c.(262-264)atC>atA	p.I88I		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	88					lipid catabolic process	extracellular region	triglyceride lipase activity	p.I88I(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		CAGACAAGATCACCCGTATCA	0.383000													31	16					2.81731e-10	3.68934e-10	0.010818	1	0
PCDHGA1	56114	broad.mit.edu	37	5	140711144	140711144	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr5:140711144C>G	ENST00000517417.1	+	1	893	c.893C>G	c.(892-894)aCa>aGa	p.T298R	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.T298R	NM_018912.2	NP_061735.1												p.T298R(2)		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)			GATTCTTACACAGGAGAAATA	0.423000													4	47					0	0	0.009096	0	0
SYT5	6861	broad.mit.edu	37	19	55690358	55690358	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr19:55690358C>A	ENST00000354308.3	-	2	421	c.52G>T	c.(52-54)Gac>Tac	p.D18Y	SYT5_ENST00000537500.1_Missense_Mutation_p.D18Y|SYT5_ENST00000590851.1_Silent_p.P72P	NM_003180.2	NP_003171.2	O00445	SYT5_HUMAN	synaptotagmin V	18					energy reserve metabolic process|regulation of insulin secretion|synaptic transmission	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane	metal ion binding|transporter activity	p.D18Y(1)		kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		CGACTGGAGTCGGGAGGCGTG	0.677000													3	19					0.014758	0.0151112	0.014758	1	0
OR8I2	120586	broad.mit.edu	37	11	55861237	55861237	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr11:55861237G>T	ENST00000302124.2	+	1	485	c.454G>T	c.(454-456)Ggc>Tgc	p.G152C	OR8I2_ENST00000560768.1_Missense_Mutation_p.G152C			Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G152C(1)		NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					ATATGTGATAGGCTTCACAAG	0.443000													16	101					1.15088e-07	1.37179e-07	0.004007	1	0
PARD3	56288	broad.mit.edu	37	10	34400396	34400396	+	Missense_Mutation	SNP	T	T	A			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr10:34400396T>A	ENST00000374789.3	-	25	4097	c.3772A>T	c.(3772-3774)Agg>Tgg	p.R1258W	PARD3_ENST00000350537.4_Missense_Mutation_p.R1212W|PARD3_ENST00000545260.1_Missense_Mutation_p.R1168W|PARD3_ENST00000545693.1_Missense_Mutation_p.R1242W|PARD3_ENST00000346874.4_Missense_Mutation_p.R1221W|PARD3_ENST00000374794.3_Missense_Mutation_p.R1146W|PARD3_ENST00000374790.3_Missense_Mutation_p.R1198W|PARD3_ENST00000374788.3_Missense_Mutation_p.R1255W	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	1258					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	p.R1258W(1)		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)				CTGGAGTACCTGGGGTTCTCT	0.572000													60	28					0	0	0.014410	0	0
C1orf94	84970	broad.mit.edu	37	1	34666517	34666517	+	Missense_Mutation	SNP	A	A	T			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr1:34666517A>T	ENST00000488417.1	+	3	1274	c.1154A>T	c.(1153-1155)aAa>aTa	p.K385I	C1orf94_ENST00000373374.3_Missense_Mutation_p.K195I	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	195							protein binding	p.K385I(1)|p.K195I(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				CCGCCCAAGAAACCTACATGT	0.582000													8	26					0	0	0.004482	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37433954	37433954	+	Silent	SNP	G	G	A			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr10:37433954G>A	ENST00000374660.1	+	8	1356	c.1257G>A	c.(1255-1257)gaG>gaA	p.E419E	ANKRD30A_ENST00000602533.1_Silent_p.E419E|ANKRD30A_ENST00000361713.1_Silent_p.E419E			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	475						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.E419E(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CCAAACAAGAGGAAGATGAAG	0.259000													61	33					0	0	0.014410	0	0
ABCA13	154664	broad.mit.edu	37	7	48520676	48520676	+	Missense_Mutation	SNP	A	A	G			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr7:48520676A>G	ENST00000435803.1	+	46	13043	c.13019A>G	c.(13018-13020)cAc>cGc	p.H4340R	ABCA13_ENST00000544596.1_Missense_Mutation_p.H70R	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4340					transport	integral to membrane	ATP binding|ATPase activity	p.H4285R(1)|p.H4340R(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CTGACCAACCACCTGGGCCAC	0.408000													4	13					0	0	0.014758	0	0
CMAS	55907	broad.mit.edu	37	12	22214339	22214339	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr12:22214339G>T	ENST00000229329.2	+	6	1043	c.913G>T	c.(913-915)Gta>Tta	p.V305L		NM_018686.4	NP_061156.1	Q8NFW8	NEUA_HUMAN	cytidine monophosphate N-acetylneuraminic acid synthetase	305					lipopolysaccharide biosynthetic process	nucleus	N-acylneuraminate cytidylyltransferase activity	p.V305L(1)		autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24						ATCTTATGATGTAAAAGATGC	0.313000													21	67					1.15919e-05	1.32037e-05	0.008871	1	0
CNTNAP5	129684	broad.mit.edu	37	2	124783245	124783245	+	Silent	SNP	G	G	T			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr2:124783245G>T	ENST00000431078.1	+	1	382	c.18G>T	c.(16-18)cgG>cgT	p.R6R	CNTNAP5_ENST00000423939.2_3'UTR	NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	6					cell adhesion|signal transduction	integral to membrane	receptor binding	p.R6R(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CTTTACCACGGCTGACCAGCG	0.552000													14	53					1.05317e-09	1.33819e-09	0.020292	1	0
TPTE	7179	broad.mit.edu	37	21	10934106	10934106	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr21:10934106C>A	ENST00000298232.7	-	15	1184	c.817G>T	c.(817-819)Gat>Tat	p.D273Y	TPTE_ENST00000342420.5_Missense_Mutation_p.D253Y|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.D291Y	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	291	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.D291Y(2)|p.D273Y(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TGCTTAGGATCGTAAGCTCTT	0.308000													40	80					7.63091e-17	1.17516e-16	0.007835	1	0
FAM129A	116496	broad.mit.edu	37	1	184764303	184764303	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr1:184764303C>A	ENST00000367511.3	-	14	2788	c.2595G>T	c.(2593-2595)atG>atT	p.M865I	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	865					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane		p.M865I(1)		autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						TTTGCCCTCCCATCTCTTCTT	0.582000													59	67					4.45325e-31	8.1643e-31	0.014410	1	0
TSHR	7253	broad.mit.edu	37	14	81534648	81534648	+	Missense_Mutation	SNP	A	A	G			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr14:81534648A>G	ENST00000541158.2	+	4	615	c.293A>G	c.(292-294)tAc>tGc	p.Y98C	TSHR_ENST00000298171.2_Missense_Mutation_p.Y98C|TSHR_ENST00000342443.6_Missense_Mutation_p.Y98C|TSHR_ENST00000554263.1_Missense_Mutation_p.Y98C|TSHR_ENST00000554435.1_Missense_Mutation_p.Y98C			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	98					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity	p.Y98C(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	CACTCCTTCTACAATTTGAGT	0.403000			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism						14	47					0	0	0.004007	0	0
FOXP2	93986	broad.mit.edu	37	7	114269998	114269998	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr7:114269998C>A	ENST00000393500.3	+	11	1130	c.310C>A	c.(310-312)Cag>Aag	p.Q104K	FOXP2_ENST00000350908.4_Missense_Mutation_p.Q179K|FOXP2_ENST00000393494.2_Missense_Mutation_p.Q179K|FOXP2_ENST00000390668.3_Missense_Mutation_p.Q203K|FOXP2_ENST00000393489.3_Missense_Mutation_p.Q87K|FOXP2_ENST00000360232.4_Missense_Mutation_p.Q179K|FOXP2_ENST00000408937.3_Missense_Mutation_p.Q204K|FOXP2_ENST00000378237.3_Missense_Mutation_p.Q179K|FOXP2_ENST00000403559.4_Missense_Mutation_p.Q196K|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000393491.3_Missense_Mutation_p.Q87K|FOXP2_ENST00000393498.2_Missense_Mutation_p.Q159K			O15409	FOXP2_HUMAN	forkhead box P2	179	Gln-rich.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA 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 activator activity|transcription factor binding|zinc ion binding	p.Q204K(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						gcagcaacaacagcagcagca	0.498000													6	47					4.096e-09	5.08697e-09	0.001168	1	0
OSR2	116039	broad.mit.edu	37	8	99961384	99961384	+	Silent	SNP	C	C	A			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr8:99961384C>A	ENST00000297565.4	+	2	700	c.204C>A	c.(202-204)acC>acA	p.T68T	OSR2_ENST00000435298.2_Silent_p.T68T|OSR2_ENST00000522510.1_Silent_p.T68T|OSR2_ENST00000523368.1_Silent_p.T68T|OSR2_ENST00000457907.2_Silent_p.T189T	NM_001142462.1	NP_001135934.1	Q8N2R0	OSR2_HUMAN	odd-skipped related transciption factor 2	68					bone morphogenesis|chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|eyelid development in camera-type eye|head development|mesonephros development|metanephros development|middle ear morphogenesis|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|osteoblast proliferation|palate development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|zinc ion binding	p.T68T(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Breast(36;4.14e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.0136)			CCCGCTCCACCATCACGGAGA	0.652000													34	29					5.85407e-19	9.50978e-19	0.014410	1	0
ZNF71	58491	broad.mit.edu	37	19	57133832	57133832	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr19:57133832G>T	ENST00000328070.6	+	3	1411	c.1177G>T	c.(1177-1179)Ggg>Tgg	p.G393W		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	393						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G393W(1)		endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		GCACTTCACGGGGCGCTCGTC	0.632000													20	10					2.39187e-15	3.58316e-15	0.008871	1	0
GFOD1	54438	broad.mit.edu	37	6	13470384	13470384	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr6:13470384G>C	ENST00000558378.1	-	2	651	c.129C>G	c.(127-129)atC>atG	p.I43M	GFOD1_ENST00000603223.1_3'UTR|GFOD1_ENST00000379278.3_5'UTR|GFOD1_ENST00000379287.3_Intron														p.I43M(1)									TGTAGCCAGTGATGTCCCACT	0.483000													15	40					0	0	0.004990	0	0
ABCB10	23456	broad.mit.edu	37	1	229675224	229675224	+	Missense_Mutation	SNP	A	A	C			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr1:229675224A>C	ENST00000344517.4	-	6	1360	c.1318T>G	c.(1318-1320)Tgg>Ggg	p.W440G		NM_012089.2	NP_036221.2	Q9NRK6	ABCBA_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 10	440	ABC transmembrane type-1.					integral to mitochondrial membrane|mitochondrial inner membrane	ATP binding|oligopeptide-transporting ATPase activity	p.W440G(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)	31	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)				ATTCCAACCCAGAAAGCATAC	0.423000													52	73					0	0	0.014410	0	0
AMER1	139285	broad.mit.edu	37	X	63413106	63413106	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chrX:63413106G>T	ENST00000330258.3	-	2	333	c.61C>A	c.(61-63)Cgt>Agt	p.R21S	AMER1_ENST00000403336.1_Missense_Mutation_p.R21S|AMER1_ENST00000374869.3_Missense_Mutation_p.R21S	NM_152424.3	NP_689637.3			APC membrane recruitment protein 1									p.0?(67)|p.R21S(2)									GTTTGTTCACGGGTACTCCCA	0.552000													32	124					2.81731e-10	3.68934e-10	0.010818	1	0
PTX4	390667	broad.mit.edu	37	16	1537678	1537678	+	Silent	SNP	G	G	T			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr16:1537678G>T	ENST00000447419.2	-	2	460	c.435C>A	c.(433-435)gcC>gcA	p.A145A	PTX4_ENST00000440447.2_Intron|PTX4_ENST00000293922.1_Silent_p.A140A			Q96A99	PTX4_HUMAN	pentraxin 4, long	145						extracellular region	metal ion binding	p.A140A(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						CGTCCCTCTGGGCCTTGTGTG	0.726000													16	15					1.37522e-17	2.17885e-17	0.007413	1	0
ABCA13	154664	broad.mit.edu	37	7	48320968	48320968	+	Nonsense_Mutation	SNP	C	C	T			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr7:48320968C>T	ENST00000435803.1	+	19	8779	c.8755C>T	c.(8755-8757)Cag>Tag	p.Q2919*		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2919					transport	integral to membrane	ATP binding|ATPase activity	p.Q2864*(1)|p.Q2919*(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						AGTTTTCCAGCAGACTGTGAA	0.428000													3	12					0	0	0.009096	0	0
AP2A1	160	broad.mit.edu	37	19	50296349	50296349	+	Splice_Site	SNP	G	G	T			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr19:50296349G>T	ENST00000354293.5	+	6	871	c.705_splice	c.e6+1	p.R235_splice	AP2A1_ENST00000600199.1_3'UTR|AP2A1_ENST00000359032.5_Splice_Site_p.R235_splice	NM_130787.2	NP_570603.2	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1 subunit	235					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	p.R235R(2)		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)		GCCTGAGCCGGGTGGGTGTGG	0.637000													7	3					0.00307968	0.00320453	0.003080	1	0
WDR91	29062	broad.mit.edu	37	7	134873253	134873253	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr7:134873253C>A	ENST00000354475.4	-	13	1844	c.1813G>T	c.(1813-1815)Ggg>Tgg	p.G605W	WDR91_ENST00000344400.5_Intron|WDR91_ENST00000423565.1_Missense_Mutation_p.G570W	NM_014149.3	NP_054868.3	A4D1P6	WDR91_HUMAN	WD repeat domain 91	605								p.G605W(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	40						TAGACCTCCCCGTAGTGGGCC	0.577000													75	67					1.69331e-39	3.21146e-39	0.014410	1	0
NEGR1	257194	broad.mit.edu	37	1	72076749	72076749	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr1:72076749C>A	ENST00000357731.4	-	5	987	c.748G>T	c.(748-750)Gtg>Ttg	p.V250L	NEGR1_ENST00000306821.3_Missense_Mutation_p.V122L|NEGR1_ENST00000434200.1_Missense_Mutation_p.V204L	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1	250	Ig-like C2-type 3.				cell adhesion	anchored to membrane|plasma membrane		p.V250L(1)		endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		GGAGGCGGCACACCTGCACCT	0.458000													14	69					1.49906e-05	1.70247e-05	0.020292	1	0
FBXL4	26235	broad.mit.edu	37	6	99374630	99374630	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr6:99374630C>A	ENST00000369244.2	-	4	663	c.235G>T	c.(235-237)Gct>Tct	p.A79S	FBXL4_ENST00000229971.1_Missense_Mutation_p.A79S			Q9UKA2	FBXL4_HUMAN	F-box and leucine-rich repeat protein 4	79					ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex		p.A79S(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	18		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0413)		GGTACACCAGCCAAATTCCAC	0.438000													19	62					1.01871e-10	1.36657e-10	0.008871	1	0
ACSM5	54988	broad.mit.edu	37	16	20429402	20429402	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr16:20429402C>A	ENST00000331849.4	+	3	373	c.226C>A	c.(226-228)Cct>Act	p.P76T	ACSM5_ENST00000575584.1_Missense_Mutation_p.P76T	NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	76					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	p.P76T(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						CCCCCCAAATCCTGCCTTCTG	0.493000													10	9					0.000673444	0.000710345	0.008291	1	0
PCDHGA3	56112	broad.mit.edu	37	5	140724495	140724495	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr5:140724495G>A	ENST00000253812.6	+	1	895	c.895G>A	c.(895-897)Gga>Aga	p.G299R	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1												p.G299R(1)		breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCAGTGAGTGGAGAAGTATC	0.388000													16	11					0	0	0.004007	0	0
RPS6KL1	83694	broad.mit.edu	37	14	75388074	75388074	+	Silent	SNP	G	G	T			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr14:75388074G>T	ENST00000555647.1	-	3	458	c.171C>A	c.(169-171)atC>atA	p.I57I	RPS6KL1_ENST00000554900.1_5'UTR|RPS6KL1_ENST00000354625.2_Silent_p.I57I|RPS6KL1_ENST00000557413.1_Silent_p.I57I|RPS6KL1_ENST00000358328.4_Silent_p.I57I			Q9Y6S9	RPKL1_HUMAN	ribosomal protein S6 kinase-like 1	57						ribosome	ATP binding|protein serine/threonine kinase activity	p.I57I(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(234;0.00658)		GGGCCAGCCGGATCTGCGTGG	0.592000													19	81					7.45023e-12	1.0355e-11	0.010504	1	0
SCN10A	6336	broad.mit.edu	37	3	38781172	38781172	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr3:38781172G>T	ENST00000449082.2	-	14	2113	c.2114C>A	c.(2113-2115)aCc>aAc	p.T705N		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	705					sensory perception	voltage-gated sodium channel complex		p.T705N(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	AAAAAATATGGTAAAGACCTA	0.383000													14	39					6.81908e-15	1.01365e-14	0.020292	1	0
PLP1	5354	broad.mit.edu	37	X	103041586	103041586	+	Silent	SNP	C	C	A			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chrX:103041586C>A	ENST00000418604.1	+	4	664	c.384C>A	c.(382-384)ggC>ggA	p.G128G	PLP1_ENST00000361621.2_Intron|PLP1_ENST00000303958.2_Silent_p.G128G	NM_001128834.1	NP_001122306.1	P60201	MYPR_HUMAN	proteolipid protein 1	128			Missing (in HLD1).		cell death|synaptic transmission	integral to membrane		p.G128G(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	17						GTTCCAGAGGCCAACATCAAG	0.547000													41	128					6.48837e-15	9.68225e-15	0.010771	1	0
SPTAN1	6709	broad.mit.edu	37	9	131345394	131345394	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr9:131345394G>T	ENST00000372739.3	+	15	1955	c.1845G>T	c.(1843-1845)caG>caT	p.Q615H	SPTAN1_ENST00000358161.5_Missense_Mutation_p.Q615H|SPTAN1_ENST00000372731.4_Missense_Mutation_p.Q615H	NM_001130438.2	NP_001123910.1	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	615					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	p.Q615H(1)		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						AGAAGCATCAGGCTTTTGAGG	0.463000													5	53					3.59834e-05	4.01553e-05	0.001168	1	0
HHIPL2	79802	broad.mit.edu	37	1	222712016	222712016	+	Silent	SNP	C	C	A			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr1:222712016C>A	ENST00000343410.6	-	5	1609	c.1551G>T	c.(1549-1551)ctG>ctT	p.L517L		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	517					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding	p.L517L(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		CAAAGATATACAGGCCATTGA	0.413000													8	58					2.17888e-05	2.46002e-05	0.006214	1	0
SLC11A1	6556	broad.mit.edu	37	2	219252294	219252294	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr2:219252294G>T	ENST00000233202.6	+	7	918	c.578G>T	c.(577-579)cGg>cTg	p.R193L	SLC11A1_ENST00000539932.1_Missense_Mutation_p.R75L	NM_000578.3	NP_000569.3	P49279	NRAM1_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1	193					activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing	integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane	manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity	p.R193L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTAGGGCTGCGGAAGCTGGAA	0.463000													54	449					3.40343e-31	6.26947e-31	0.014410	1	0
SNTG1	54212	broad.mit.edu	37	8	51571151	51571151	+	Splice_Site	SNP	G	G	T			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr8:51571151G>T	ENST00000522124.1	+	15	1627		c.e15-1		SNTG1_ENST00000518864.1_Splice_Site|SNTG1_ENST00000517473.1_Splice_Site|SNTG1_ENST00000276467.5_Splice_Site	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1						cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding	p.?(2)		NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				ATCTTTTAAAGGTGACCACCT	0.303000													6	71					2.7689e-08	3.3735e-08	0.001984	1	0
TMEM145	284339	broad.mit.edu	37	19	42821933	42821933	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr19:42821933G>T	ENST00000598766.1	+	12	1045	c.1045G>T	c.(1045-1047)Gcg>Tcg	p.A349S	TMEM145_ENST00000301204.3_Missense_Mutation_p.A325S			Q8NBT3	TM145_HUMAN	transmembrane protein 145	325						integral to membrane		p.A325S(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				ACTGCAGGTGGCGGCCTACGT	0.562000													28	13					4.22769e-11	5.69113e-11	0.006320	1	0
FPGT	8790	broad.mit.edu	37	1	74670891	74670891	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr1:74670891G>T	ENST00000370898.2	+	4	1197	c.1160G>T	c.(1159-1161)aGt>aTt	p.S387I	FPGT-TNNI3K_ENST00000370899.3_Intron|FPGT_ENST00000370894.4_Splice_Site|FPGT_ENST00000524915.1_Intron|FPGT-TNNI3K_ENST00000370895.1_Intron|TNNI3K_ENST00000370893.1_Intron|FPGT-TNNI3K_ENST00000557284.1_Intron|TNNI3K_ENST00000370891.2_Intron|FPGT_ENST00000534056.1_Intron	NM_001199328.1|NM_003838.3	NP_001186257.1|NP_003829.2			fucose-1-phosphate guanylyltransferase									p.S387I(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	39						ATAACTTTTAGTATCTTTCCA	0.383000													10	28					3.86212e-05	4.28506e-05	0.008291	1	0
ATP13A5	344905	broad.mit.edu	37	3	193039469	193039469	+	Splice_Site	SNP	C	C	G			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr3:193039469C>G	ENST00000342358.4	-	16	2033		c.e16+1			NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5						ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	p.?(1)		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)		AGTGTTAGTACCTGTTTCAGA	0.458000													4	84					0	0	0.014758	0	0
KLHL26	55295	broad.mit.edu	37	19	18778916	18778916	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr19:18778916G>T	ENST00000300976.4	+	3	799	c.709G>T	c.(709-711)Gac>Tac	p.D237Y	KLHL26_ENST00000599006.1_Intron	NM_018316.1	NP_060786.1	Q53HC5	KLH26_HUMAN	kelch-like family member 26	237	BACK.							p.D237Y(1)		breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						GCTGCAGCATGAcccggcccg	0.687000													9	27					2.74318e-10	3.64181e-10	0.006214	1	0
KIF2B	84643	broad.mit.edu	37	17	51901793	51901793	+	Nonsense_Mutation	SNP	G	G	T			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr17:51901793G>T	ENST00000268919.4	+	1	1555	c.1399G>T	c.(1399-1401)Gaa>Taa	p.E467*		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	467	Kinesin-motor.				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	p.E467*(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AAGGCAGCTGGAAGGGGCAGA	0.493000													13	12					1.61879e-10	2.16401e-10	0.013537	1	0
IL1RAPL1	11141	broad.mit.edu	37	X	29938179	29938179	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chrX:29938179G>C	ENST00000378993.1	+	8	1698	c.1025G>C	c.(1024-1026)cGt>cCt	p.R342P	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.R342P	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	342	Ig-like C2-type 3.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity	p.R342P(4)		biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						GGAAATGGACGTCGACACGCC	0.438000													28	59					0	0	0.007291	0	0
TTC6	319089	broad.mit.edu	37	14	38273933	38273933	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr14:38273933G>T	ENST00000553443.1	+	21	4078	c.4078G>T	c.(4078-4080)Gat>Tat	p.D1360Y	TTC6_ENST00000267368.7_Missense_Mutation_p.D91Y|TTC6_ENST00000476979.1_Missense_Mutation_p.D91Y|TTC6_ENST00000382320.3_Missense_Mutation_p.D74Y					tetratricopeptide repeat domain 6									p.D1360Y(1)|p.D91Y(1)		central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	14	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;1.59e-06)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0543)|all cancers(34;0.108)|BRCA - Breast invasive adenocarcinoma(188;0.156)|LUSC - Lung squamous cell carcinoma(13;0.176)	GBM - Glioblastoma multiforme(112;0.00551)		TTCTCATTCTGATAAAGGACC	0.398000													213	192					3.00594e-102	5.81551e-102	0.014410	1	0
CTNND1	1500	broad.mit.edu	37	11	57575995	57575995	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr11:57575995G>T	ENST00000524630.1	+	13	2720	c.2207G>T	c.(2206-2208)cGc>cTc	p.R736L	CTNND1_ENST00000415361.2_Missense_Mutation_p.R641L|CTNND1_ENST00000532787.1_Missense_Mutation_p.R635L|CTNND1_ENST00000399039.4_Missense_Mutation_p.R742L|CTNND1_ENST00000529986.1_Missense_Mutation_p.R635L|CTNND1_ENST00000532463.1_Missense_Mutation_p.R635L|CTNND1_ENST00000526938.1_Missense_Mutation_p.R742L|CTNND1_ENST00000426142.2_Missense_Mutation_p.R635L|CTNND1_ENST00000361332.4_Missense_Mutation_p.R736L|CTNND1_ENST00000361391.6_Missense_Mutation_p.R736L|CTNND1_ENST00000529526.1_Missense_Mutation_p.R682L|CTNND1_ENST00000528621.1_Missense_Mutation_p.R682L|CTNND1_ENST00000529919.1_Missense_Mutation_p.R742L|CTNND1_ENST00000428599.2_Missense_Mutation_p.R736L|CTNND1_ENST00000526357.1_Missense_Mutation_p.R682L|CTNND1_ENST00000527467.1_Missense_Mutation_p.R419L|CTNND1_ENST00000361796.4_Missense_Mutation_p.R736L|CTNND1_ENST00000532245.1_Missense_Mutation_p.R635L|CTNND1_ENST00000529873.1_Missense_Mutation_p.R682L|CTNND1_ENST00000531014.1_Missense_Mutation_p.R413L|CTNND1_ENST00000526772.1_Missense_Mutation_p.R413L|CTNND1_ENST00000358694.6_Missense_Mutation_p.R736L|CTNND1_ENST00000360682.6_Missense_Mutation_p.R742L|CTNND1_ENST00000399050.4_Missense_Mutation_p.R742L|CTNND1_ENST00000528232.1_Missense_Mutation_p.R641L|CTNND1_ENST00000530094.1_Missense_Mutation_p.R635L|CTNND1_ENST00000525902.1_Missense_Mutation_p.R419L|CTNND1_ENST00000534579.1_Missense_Mutation_p.R682L|CTNND1_ENST00000533667.1_Missense_Mutation_p.R413L|CTNND1_ENST00000532649.1_Missense_Mutation_p.R682L|CTNND1_ENST00000532844.1_Missense_Mutation_p.R688L|CTNND1_ENST00000530748.1_Missense_Mutation_p.R688L			O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	742					adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding	p.R742L(1)|p.R736L(1)		breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				GTGGATGCTCGCAACAAAGAA	0.428000													38	25					4.14481e-20	6.79043e-20	0.006230	1	0
NFE2	4778	broad.mit.edu	37	12	54686696	54686696	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr12:54686696G>C	ENST00000540264.2	-	2	1093	c.584C>G	c.(583-585)aCc>aGc	p.T195S	RP11-968A15.8_ENST00000553061.1_RNA|NFE2_ENST00000553070.1_Missense_Mutation_p.T195S|NFE2_ENST00000435572.2_Missense_Mutation_p.T195S|NFE2_ENST00000312156.4_Missense_Mutation_p.T195S			Q16621	NFE2_HUMAN	nuclear factor, erythroid 2	195	Transactivation domain.				blood circulation|blood coagulation|multicellular organismal development|nucleosome disassembly|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	actin cytoskeleton|cytoplasm|PML body	protein dimerization activity|protein N-terminus binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|WW domain binding	p.T195S(1)		breast(1)|central_nervous_system(1)|large_intestine(5)|lung(7)|upper_aerodigestive_tract(2)	16						AGCTGGCAAGGTATAGTTGGA	0.622000													5	73					0	0	0.001168	0	0
NF1	4763	broad.mit.edu	37	17	29553702	29553702	+	Splice_Site	SNP	G	G	T			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr17:29553702G>T	ENST00000358273.4	+	18	2634	c.2251_splice	c.e18+1	p.G751_splice	NF1_ENST00000356175.3_Splice_Site_p.G751_splice	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	751					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)|p.G751*(2)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GATGTCAACAGGTAAATGTGA	0.403000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			64	44					1.46168e-27	2.64201e-27	0.014410	1	0
DCAF12L1	139170	broad.mit.edu	37	X	125685987	125685987	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chrX:125685987C>A	ENST00000371126.1	-	1	847	c.605G>T	c.(604-606)tGg>tTg	p.W202L		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	202								p.W202L(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						GTCACTCAGCCAGGCGACGGC	0.652000													15	29					2.23348e-06	2.61365e-06	0.004007	1	0
CSMD3	114788	broad.mit.edu	37	8	113420594	113420594	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr8:113420594G>T	ENST00000297405.5	-	34	5802	c.5558C>A	c.(5557-5559)aCt>aAt	p.T1853N	CSMD3_ENST00000455883.2_Missense_Mutation_p.T1749N|CSMD3_ENST00000352409.3_Intron|CSMD3_ENST00000343508.3_Missense_Mutation_p.T1813N	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1853	CUB 10.					integral to membrane|plasma membrane		p.T1813N(1)|p.T1853N(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TCCAACTGAAGTAAATCGAAT	0.338000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			41	62					1.21353e-23	2.09512e-23	0.014410	1	0
RP11-93K22.13	0	broad.mit.edu	37	3	129811972	129811972	+	RNA	SNP	G	G	C			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr3:129811972G>C	ENST00000514010.1	-	0	157				ALG1L2_ENST00000507643.1_RNA																							TTGACGGACAGAACCTTCCTT	0.408000													4	83					0	0	0.009096	0	0
HHIPL2	79802	broad.mit.edu	37	1	222696185	222696185	+	Nonsense_Mutation	SNP	T	T	A			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr1:222696185T>A	ENST00000343410.6	-	9	1991	c.1933A>T	c.(1933-1935)Aga>Tga	p.R645*	HHIPL2_ENST00000473144.1_5'UTR	NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	645					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding	p.R645*(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		GAAGATTTTCTAGCAGCTTTC	0.428000													40	183					0	0	0.006230	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3684006	3684006	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr20:3684006G>A	ENST00000344754.4	-	5	1065	c.1066C>T	c.(1066-1068)Ctc>Ttc	p.L356F	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.L356F	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	356	Ig-like C2-type 3.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	p.L356F(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						CTGTAGCGGAGATCACTGGGT	0.577000													12	40					0	0	0.010729	0	0
CTNND2	1501	broad.mit.edu	37	5	11364842	11364842	+	Silent	SNP	C	C	T			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr5:11364842C>T	ENST00000304623.8	-	8	1527	c.1338G>A	c.(1336-1338)ccG>ccA	p.P446P	CTNND2_ENST00000503622.1_Silent_p.P109P|CTNND2_ENST00000359640.2_Silent_p.P446P|CTNND2_ENST00000511377.1_Silent_p.P355P|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000458100.2_Silent_p.P13P	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	446					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	p.P446P(2)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TGTGTGCTGGCGGCAGAGGGT	0.617000													4	43					0	0	0.001168	0	0
BTBD7	55727	broad.mit.edu	37	14	93709365	93709365	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr14:93709365C>A	ENST00000334746.5	-	11	2960	c.2653G>T	c.(2653-2655)Gac>Tac	p.D885Y	BTBD7_ENST00000393170.2_Missense_Mutation_p.D459Y|BTBD7_ENST00000554565.1_Missense_Mutation_p.D534Y	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	885								p.D885Y(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		AGCCTCCTGTCCTTGAGTGAC	0.532000													19	163					6.94344e-10	8.94055e-10	0.006122	1	0
C9	735	broad.mit.edu	37	5	39306769	39306769	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr5:39306769C>T	ENST00000263408.4	-	9	1461	c.1366G>A	c.(1366-1368)Gtc>Atc	p.V456I		NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	456	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex		p.V456I(1)		central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			GCCCAGTTGACAAAGTCAGTC	0.363000													26	107					0	0	0.008361	0	0
EIF2AK2	5610	broad.mit.edu	37	2	37349652	37349652	+	Nonsense_Mutation	SNP	G	G	C			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr2:37349652G>C	ENST00000233057.4	-	12	1386	c.1064C>G	c.(1063-1065)tCa>tGa	p.S355*	EIF2AK2_ENST00000395127.2_Nonsense_Mutation_p.S355*|EIF2AK2_ENST00000405334.1_Nonsense_Mutation_p.S314*	NM_001135651.2	NP_001129123.1	P19525	E2AK2_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 2	355	2 X 13 AA approximate repeats.|Protein kinase.				evasion by virus of host immune response|modulation by virus of host cellular process|negative regulation of osteoblast proliferation|protein autophosphorylation|response to virus|viral infectious cycle	cytosol	ATP binding|double-stranded RNA binding|eukaryotic translation initiation factor 2alpha kinase activity|protein binding|protein phosphatase type 2A regulator activity	p.S355*(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)	22		all_hematologic(82;0.248)				TAGTTACCTTGAACTATTTTT	0.363000													10	72					0	0	0.008291	0	0
IQGAP2	10788	broad.mit.edu	37	5	75950817	75950817	+	Missense_Mutation	SNP	A	A	G			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr5:75950817A>G	ENST00000274364.6	+	20	2606	c.2309A>G	c.(2308-2310)tAc>tGc	p.Y770C	IQGAP2_ENST00000396234.3_Missense_Mutation_p.Y266C|IQGAP2_ENST00000379730.3_Missense_Mutation_p.Y272C|IQGAP2_ENST00000502745.1_Missense_Mutation_p.Y266C	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	770	IQ 3.				small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity	p.Y770C(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		AGAGATGACTACAAAACATTG	0.393000													47	22					0	0	0.014410	0	0
RSU1P2	100133308	broad.mit.edu	37	10	45602096	45602096	+	RNA	SNP	C	C	T			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr10:45602096C>T	ENST00000423875.1	-	0	1340																											GAGGCGGTTCCTCTGAATGTG	0.418000													32	19					0	0	0.006230	0	0
DCDC1	341019	broad.mit.edu	37	11	31287134	31287134	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr11:31287134C>A	ENST00000597505.1	-	6	973	c.974G>T	c.(973-975)tGt>tTt	p.C325F	DCDC1_ENST00000452803.1_Missense_Mutation_p.C325F			P59894	DCDC1_HUMAN	doublecortin domain containing 1	325					intracellular signal transduction			p.C325F(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					TCTTATTGTACAAGTATCTAA	0.259000													12	15					1.08611e-07	1.30672e-07	0.010729	1	0
OR2L8	391190	broad.mit.edu	37	1	248112520	248112520	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr1:248112520C>T	ENST00000357191.3	+	1	361	c.361C>T	c.(361-363)Cgt>Tgt	p.R121C	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R121C(2)|p.R121S(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			GGCCTATGATCGTTACATTGC	0.443000													33	322					0	0	0.010818	0	0
PROSER1	80209	broad.mit.edu	37	13	39586310	39586310	+	Silent	SNP	C	C	A			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr13:39586310C>A	ENST00000352251.3	-	12	3455	c.2622G>T	c.(2620-2622)ccG>ccT	p.P874P	PROSER1_ENST00000484434.2_5'UTR|PROSER1_ENST00000350125.3_Silent_p.P852P	NM_025138.3	NP_079414.3	Q86XN7	CM023_HUMAN	proline and serine rich 1	874								p.P874P(1)									CAGGGATACCCGGGAGGGACA	0.453000													19	148					4.96729e-08	6.01386e-08	0.008871	1	0
OR5T1	390155	broad.mit.edu	37	11	56043390	56043390	+	Missense_Mutation	SNP	A	A	T			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr11:56043390A>T	ENST00000313033.2	+	1	362	c.276A>T	c.(274-276)aaA>aaT	p.K92N		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	92					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K92N(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					TCACTCCAAAAATGTTGGTCA	0.373000													19	92					0	0	0.006122	0	0
ACOT9	23597	broad.mit.edu	37	X	23723693	23723693	+	Silent	SNP	G	G	T			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chrX:23723693G>T	ENST00000379303.5	-	13	1080	c.952C>A	c.(952-954)Cgg>Agg	p.R318R	ACOT9_ENST00000336430.7_Silent_p.R309R|ACOT9_ENST00000379295.1_Silent_p.R249R	NM_001037171.1	NP_001032248.1	Q9Y305	ACOT9_HUMAN	acyl-CoA thioesterase 9	309					acyl-CoA metabolic process	mitochondrion	acetyl-CoA hydrolase activity|carboxylesterase activity	p.R309R(1)		breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(4)|pancreas(1)|skin(1)	15						CCAAAGATCCGATTGAAAATG	0.398000													46	110					5.34276e-22	9.02176e-22	0.014410	1	0
PLK3	1263	broad.mit.edu	37	1	45268721	45268721	+	Missense_Mutation	SNP	A	A	T			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr1:45268721A>T	ENST00000372201.4	+	7	1083	c.844A>T	c.(844-846)Agc>Tgc	p.S282C	PLK3_ENST00000465443.1_3'UTR	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	282	Protein kinase.					membrane	ATP binding|protein binding|protein serine/threonine kinase activity	p.S243C(1)		endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					GCTGCCTGCCAGCCTCTCACT	0.622000													16	90					0	0	0.004007	0	0
HUWE1	10075	broad.mit.edu	37	X	53578393	53578393	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chrX:53578393G>T	ENST00000342160.3	-	63	9387	c.8930C>A	c.(8929-8931)cCt>cAt	p.P2977H	HUWE1_ENST00000262854.6_Missense_Mutation_p.P2977H			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2977					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	p.P2867H(1)|p.P2977H(1)		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						GATGTCATCAGGCAGGGCAGC	0.537000													3	13					0.004672	0.00483527	0.004672	1	0
DIAPH3	81624	broad.mit.edu	37	13	60485886	60485886	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr13:60485886C>T	ENST00000400324.4	-	20	2570	c.2350G>A	c.(2350-2352)Gag>Aag	p.E784K	DIAPH3_ENST00000400319.1_Missense_Mutation_p.E714K|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000377908.2_Missense_Mutation_p.E773K|DIAPH3_ENST00000400320.1_Missense_Mutation_p.E738K|DIAPH3_ENST00000400330.1_Missense_Mutation_p.E784K|DIAPH3_ENST00000267215.4_Missense_Mutation_p.E784K	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	784	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding	p.E784K(1)		cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		ACAAACTGCTCAGGTTCACAT	0.343000													19	25					0	0	0.007413	0	0
G3BP2	9908	broad.mit.edu	37	4	76582913	76582913	+	Splice_Site	SNP	T	T	C			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr4:76582913T>C	ENST00000359707.4	-	4	964	c.177_splice	c.e4-1	p.D60_splice	G3BP2_ENST00000395719.3_Splice_Site_p.D60_splice|G3BP2_ENST00000502654.1_5'UTR|G3BP2_ENST00000357854.3_Splice_Site_p.D60_splice	NM_203505.2	NP_987101.1	Q9UN86	G3BP2_HUMAN	GTPase activating protein (SH3 domain) binding protein 2	60	NTF2.				cytoplasmic sequestering of NF-kappaB|mRNA transport|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	GTPase activator activity|nucleotide binding|receptor signaling complex scaffold activity|RNA binding	p.D60G(1)		breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	27			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			GTGGTGTATATCCTTTATTAG	0.373000													46	89					0	0	0.010771	0	0
MAP3K15	389840	broad.mit.edu	37	X	19389565	19389565	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chrX:19389565G>T	ENST00000338883.4	-	23	3191	c.3192C>A	c.(3190-3192)caC>caA	p.H1064Q	MAP3K15_ENST00000469203.2_Missense_Mutation_p.H896Q|MAP3K15_ENST00000359173.3_Missense_Mutation_p.H499Q|MAP3K15_ENST00000518578.1_5'UTR	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	1064							ATP binding|MAP kinase kinase kinase activity|metal ion binding	p.H1111Q(1)|p.H539Q(1)		NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					CCATCACCCGGTGCTCTGGGG	0.502000													37	77					2.54651e-27	4.53891e-27	0.006999	1	0
PRUNE2	158471	broad.mit.edu	37	9	79325691	79325691	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr9:79325691G>T	ENST00000428286.1	-	8	1622	c.422C>A	c.(421-423)cCc>cAc	p.P141H	PRUNE2_ENST00000376718.3_Missense_Mutation_p.P500H			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	500					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	p.P500H(1)		endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						AGAAGCCATGGGTGCTGGGTC	0.567000													20	17					1.00905e-13	1.46597e-13	0.008871	1	0
BTG2	7832	broad.mit.edu	37	1	203276294	203276294	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr1:203276294C>G	ENST00000290551.4	+	2	276	c.205C>G	c.(205-207)Cgc>Ggc	p.R69G		NM_006763.2	NP_006754.1	P78543	BTG2_HUMAN	BTG family, member 2	69					DNA repair|neuron projection development|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	p.R69G(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(75;0.203)			CCGCTGCATTCGCATCAACCA	0.612000													13	35					0	0	0.013537	0	0
PARD3B	117583	broad.mit.edu	37	2	205829880	205829880	+	Missense_Mutation	SNP	T	T	G			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr2:205829880T>G	ENST00000406610.2	+	3	435	c.228T>G	c.(226-228)atT>atG	p.I76M	PARD3B_ENST00000358768.2_Missense_Mutation_p.I76M|PARD3B_ENST00000351153.1_Missense_Mutation_p.I76M|PARD3B_ENST00000462231.1_Missense_Mutation_p.I76M|PARD3B_ENST00000349953.3_Missense_Mutation_p.I76M	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	76					cell cycle|cell division	endomembrane system|tight junction		p.I76M(2)|p.I77M(1)		breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		TGTAGCTGATTGCTGTGTTTG	0.453000													5	14					0	0	0.001168	0	0
SLC36A2	153201	broad.mit.edu	37	5	150696494	150696494	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr5:150696494G>T	ENST00000335244.4	-	10	1465	c.1336C>A	c.(1336-1338)Ctg>Atg	p.L446M	SLC36A2_ENST00000450886.1_Missense_Mutation_p.L170M	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 2	446					cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity	p.L446M(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATGCTGATCAGGGCGTCCTTG	0.612000													18	9					2.35188e-11	3.2109e-11	0.006122	1	0
CACHD1	57685	broad.mit.edu	37	1	65147015	65147015	+	Missense_Mutation	SNP	A	A	G			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr1:65147015A>G	ENST00000371073.2	+	25	3481	c.3481A>G	c.(3481-3483)Atc>Gtc	p.I1161V	CACHD1_ENST00000290039.5_Missense_Mutation_p.I1110V|CACHD1_ENST00000495994.1_3'UTR			Q5VU97	CAHD1_HUMAN	cache domain containing 1	1161					calcium ion transport	integral to membrane		p.I1110V(1)		breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						AGACAGAGGCATCAGTGAGTA	0.413000													13	35					0	0	0.020292	0	0
CCKBR	887	broad.mit.edu	37	11	6291448	6291448	+	Silent	SNP	G	G	T			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr11:6291448G>T	ENST00000525462.1	+	3	537	c.534G>T	c.(532-534)acG>acT	p.T178T	CCKBR_ENST00000525014.1_3'UTR|CCKBR_ENST00000334619.2_Silent_p.T178T|CCKBR_ENST00000532715.1_Silent_p.T94T			P32239	GASR_HUMAN	cholecystokinin B receptor	142					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding	p.T178T(2)		NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	TTGTAGCCACGTGGCTGCTGT	0.657000													24	21					2.41591e-17	3.77243e-17	0.004656	1	0
MAB21L2	10586	broad.mit.edu	37	4	151504265	151504265	+	Silent	SNP	C	C	A			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr4:151504265C>A	ENST00000317605.4	+	1	1189	c.84C>A	c.(82-84)gcC>gcA	p.A28A	LRBA_ENST00000507224.1_Intron|LRBA_ENST00000535741.1_Intron|LRBA_ENST00000357115.3_Intron|LRBA_ENST00000510413.1_Intron	NM_006439.4	NP_006430.1	Q9Y586	MB212_HUMAN	mab-21-like 2 (C. elegans)	28					nervous system development	nucleus		p.A28A(1)		breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	21	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		CGGCCATCGCCAAAACCATCC	0.592000													5	18					0.000602214	0.000638712	0.014758	1	0
ZAK	51776	broad.mit.edu	37	2	174131278	174131278	+	Missense_Mutation	SNP	A	A	G			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr2:174131278A>G	ENST00000375213.3	+	20	2281	c.2203A>G	c.(2203-2205)Agg>Ggg	p.R735G	MLTK_ENST00000409176.2_Missense_Mutation_p.R735G|MLK7-AS1_ENST00000422703.1_RNA|MLK7-AS1_ENST00000423106.2_RNA	NM_016653.2	NP_057737.2												p.R735G(1)									GAGAAGCCCCAGGGACCTCCA	0.542000													17	35					0	0	0.008871	0	0
IFT88	8100	broad.mit.edu	37	13	21166539	21166539	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr13:21166539G>C	ENST00000382778.4	+	8	1539	c.421G>C	c.(421-423)Gat>Cat	p.D141H	IFT88_ENST00000351808.5_Missense_Mutation_p.D132H|IFT88_ENST00000319980.6_Missense_Mutation_p.D141H|IFT88_ENST00000537103.1_Missense_Mutation_p.D113H			Q13099	IFT88_HUMAN	intraflagellar transport 88 homolog (Chlamydomonas)	141					cilium morphogenesis	centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum	protein binding	p.D141H(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	27		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)		CAAGAAAAAAGATAGGTATGT	0.348000													3	37					0	0	0.009096	0	0
TECRL	253017	broad.mit.edu	37	4	65170927	65170927	+	Silent	SNP	A	A	G			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr4:65170927A>G	ENST00000381210.3	-	7	797	c.687T>C	c.(685-687)tcT>tcC	p.S229S	TECRL_ENST00000513125.1_5'UTR|TECRL_ENST00000507440.1_Silent_p.S229S	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	229					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors	p.S229S(1)		endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						AGGCAATCCAAGAAGTAAATC	0.313000													25	61					0	0	0.004656	0	0
TMEM255A	55026	broad.mit.edu	37	X	119410885	119410885	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chrX:119410885C>A	ENST00000371369.4	-	7	756	c.530G>T	c.(529-531)gGt>gTt	p.G177V	TMEM255A_ENST00000440464.1_Intron|TMEM255A_ENST00000371352.1_Missense_Mutation_p.G37V|TMEM255A_ENST00000309720.5_Missense_Mutation_p.G201V	NM_001104544.1	NP_001098014.1			transmembrane protein 255A									p.G201V(1)									GTAGTACCCACCAGTGATCTC	0.587000													20	93					2.94398e-08	3.5755e-08	0.007413	1	0
DNAH8	1769	broad.mit.edu	37	6	38891908	38891908	+	Missense_Mutation	SNP	T	T	G			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr6:38891908T>G	ENST00000359357.3	+	71	10535	c.10281T>G	c.(10279-10281)aaT>aaG	p.N3427K	RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000449981.2_Missense_Mutation_p.N3644K|DNAH8_ENST00000441566.1_Missense_Mutation_p.N3391K|RP1-207H1.3_ENST00000418399.1_RNA					dynein, axonemal, heavy chain 8									p.N3427K(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AAAACCTGAATCTTATTTCAA	0.353000													30	70					0	0	0.008361	0	0
NRD1	4898	broad.mit.edu	37	1	52303236	52303236	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr1:52303236C>A	ENST00000354831.7	-	3	876	c.687G>T	c.(685-687)aaG>aaT	p.K229N	NRD1_ENST00000544028.1_Intron|NRD1_ENST00000485608.1_Intron|NRD1_ENST00000539524.1_Missense_Mutation_p.K97N|NRD1_ENST00000352171.7_Intron	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	195					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding	p.K229N(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						AATAAGTTGACTTAAACCACA	0.373000													29	78					3.73148e-12	5.26234e-12	0.007291	1	0
RCE1	9986	broad.mit.edu	37	11	66613459	66613459	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr11:66613459T>C	ENST00000309657.3	+	8	927	c.883T>C	c.(883-885)Ttc>Ctc	p.F295L	RCE1_ENST00000524506.1_Missense_Mutation_p.F274L|RCE1_ENST00000525356.1_Missense_Mutation_p.F172L	NM_001032279.1|NM_005133.2	NP_001027450.1|NP_005124.1	Q9Y256	FACE2_HUMAN	Ras converting CAAX endopeptidase 1	295					proteolysis	endoplasmic reticulum membrane|integral to plasma membrane	metalloendopeptidase activity	p.F295L(1)		breast(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						TGTGGGACTCTTCCTGCTTCT	0.627000													31	66					0	0	0.009535	0	0
ANK1	286	broad.mit.edu	37	8	41519408	41519408	+	Nonsense_Mutation	SNP	G	G	A			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr8:41519408G>A	ENST00000396942.1	-	41	5613	c.5530C>T	c.(5530-5532)Cag>Tag	p.Q1844*	ANK1_ENST00000289734.7_Nonsense_Mutation_p.Q1844*|RP11-930P14.1_ENST00000520418.1_RNA|ANK1_ENST00000396945.1_Intron|ANK1_ENST00000522231.1_Nonsense_Mutation_p.Q119*|ANK1_ENST00000347528.4_Nonsense_Mutation_p.Q1844*|ANK1_ENST00000265709.8_Nonsense_Mutation_p.Q1885*|ANK1_ENST00000379758.2_Intron|ANK1_ENST00000352337.4_Intron|RP11-930P14.1_ENST00000522388.1_RNA|ANK1_ENST00000457297.1_Intron|RP11-930P14.1_ENST00000585088.1_RNA|ANK1_ENST00000522543.1_Nonsense_Mutation_p.Q119*|ANK1_ENST00000314214.8_Nonsense_Mutation_p.Q119*			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1844	55 kDa regulatory domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	p.Q1844*(1)|p.Q119*(1)|p.Q1885*(1)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TCGTGCTCCTGGGCGGCATCG	0.577000													30	48					0	0	0.010818	0	0
ZFP91	80829	broad.mit.edu	37	11	58385171	58385171	+	Nonsense_Mutation	SNP	G	G	T			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr11:58385171G>T	ENST00000316059.6	+	11	1876	c.1705G>T	c.(1705-1707)Gga>Tga	p.G569*	ZFP91-CNTF_ENST00000389919.4_Intron	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN	ZFP91 zinc finger protein	569					activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination	nucleus	nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding	p.G569*(1)		cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				AGACTCTGCCGGACCTTAGTG	0.438000													66	51					1.31311e-47	2.51515e-47	0.014410	1	0
FMN2	56776	broad.mit.edu	37	1	240371044	240371044	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr1:240371044C>A	ENST00000319653.9	+	5	3162	c.2932C>A	c.(2932-2934)Cca>Aca	p.P978T		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	978	FH1.|Pro-rich.				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	p.P1121T(1)		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)			AATACCTCCTCCACCCCCTCT	0.716000													5	21					3.86212e-05	4.28506e-05	0.008291	1	0
TGM4	7047	broad.mit.edu	37	3	44952603	44952603	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr3:44952603C>A	ENST00000296125.4	+	12	1828	c.1760C>A	c.(1759-1761)cCt>cAt	p.P587H		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	587					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.P587N(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	TTCCAGTACCCTGAGTTCTCT	0.493000													26	53					3.01185e-09	3.75263e-09	0.021523	1	0
SPTA1	6708	broad.mit.edu	37	1	158648304	158648304	+	Silent	SNP	G	G	T			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr1:158648304G>T	ENST00000368148.3	-	6	879	c.699C>A	c.(697-699)ccC>ccA	p.P233P	SPTA1_ENST00000368147.3_Silent_p.P233P	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	233					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.P233P(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)					ACTGAATTAAGGGTAGGTCAG	0.398000													17	62					3.41278e-10	4.43892e-10	0.004990	1	0
MAGEB1	4112	broad.mit.edu	37	X	30269550	30269550	+	Missense_Mutation	SNP	A	A	G			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chrX:30269550A>G	ENST00000378981.3	+	4	1261	c.940A>G	c.(940-942)Aga>Gga	p.R314G	MAGEB1_ENST00000397548.2_Missense_Mutation_p.R314G|MAGEB1_ENST00000397550.1_Missense_Mutation_p.R314G	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	314								p.R314G(1)		NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						TGAGGAAGAGAGAGCCCAAGT	0.537000													20	56					0	0	0.012319	0	0
NOTCH3	4854	broad.mit.edu	37	19	15291560	15291560	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr19:15291560G>T	ENST00000263388.2	-	19	3149	c.3074C>A	c.(3073-3075)cCc>cAc	p.P1025H		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1025	EGF-like 26.				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.P1025H(2)		breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CCATCCAGGGGGACAAAGGCA	0.657000													5	8					0.000602214	0.000638712	0.014758	1	0
GPR139	124274	broad.mit.edu	37	16	20043958	20043958	+	Missense_Mutation	SNP	A	A	T			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr16:20043958A>T	ENST00000570682.1	-	2	461	c.161T>A	c.(160-162)cTg>cAg	p.L54Q		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	54						integral to membrane|plasma membrane		p.L54Q(1)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						TCTTGCCACCAGCTGGGAGAG	0.483000													20	13					0	0	0.014323	0	0
TRPV4	59341	broad.mit.edu	37	12	110236695	110236695	+	Silent	SNP	A	A	G			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr12:110236695A>G	ENST00000418703.2	-	5	970	c.876T>C	c.(874-876)gcT>gcC	p.A292A	TRPV4_ENST00000392719.2_Silent_p.A245A|TRPV4_ENST00000261740.2_Silent_p.A292A|TRPV4_ENST00000536838.1_Silent_p.A258A|TRPV4_ENST00000537083.1_Silent_p.A292A|TRPV4_ENST00000544971.1_Silent_p.A245A|TRPV4_ENST00000346520.2_Silent_p.A292A|TRPV4_ENST00000541794.1_Silent_p.A245A	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	292					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding	p.A292A(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						TGGTGCAGGCAGCCAGCGACA	0.677000													25	30					0	0	0.009535	0	0
ZNF285	26974	broad.mit.edu	37	19	44891284	44891284	+	Nonsense_Mutation	SNP	C	C	A			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr19:44891284C>A	ENST00000330997.4	-	4	1187	c.1123G>T	c.(1123-1125)Gaa>Taa	p.E375*	CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000544719.2_Nonsense_Mutation_p.E375*|ZNF285_ENST00000591679.1_Nonsense_Mutation_p.E382*	NM_152354.3	NP_689567.3			zinc finger protein 285									p.E375*(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						CCACACTCTTCACATTTATAG	0.468000													14	15					0.000151284	0.000164069	0.016723	1	0
IL7R	3575	broad.mit.edu	37	5	35876392	35876392	+	Missense_Mutation	SNP	A	A	T			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr5:35876392A>T	ENST00000303115.3	+	8	1313	c.1184A>T	c.(1183-1185)aAg>aTg	p.K395M	IL7R_ENST00000343305.4_3'UTR	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	395					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity	p.K395M(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			GAGAGTGGCAAGAATGGGCCT	0.542000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency						6	75					0	0	0.001984	0	0
CTRC	11330	broad.mit.edu	37	1	15772225	15772225	+	Missense_Mutation	SNP	A	A	G			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr1:15772225A>G	ENST00000375949.4	+	7	799	c.773A>G	c.(772-774)tAc>tGc	p.Y258C	CTRC_ENST00000375943.2_3'UTR|CTRC_ENST00000483406.1_3'UTR	NM_007272.2	NP_009203.2	Q99895	CTRC_HUMAN	chymotrypsin C (caldecrin)	258	Peptidase S1.				proteolysis		serine-type endopeptidase activity	p.Y258C(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)	13		Breast(348;0.000207)|all_lung(284;0.00021)|Colorectal(325;0.000257)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)|Hepatocellular(190;0.0634)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GTGTCCGCCTACATCGACTGG	0.617000													18	49					0	0	0.012319	0	0
TEX15	56154	broad.mit.edu	37	8	30701125	30701125	+	Nonsense_Mutation	SNP	G	G	T			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr8:30701125G>T	ENST00000256246.2	-	1	5483	c.5409C>A	c.(5407-5409)tgC>tgA	p.C1803*		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1803								p.C1803*(1)		NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		AAAAATCAAAGCAATCGGAAC	0.323000													9	18					0.00448238	0.00465153	0.004482	1	0
ADAMTS19	171019	broad.mit.edu	37	5	128994400	128994400	+	Nonsense_Mutation	SNP	A	A	T			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr5:128994400A>T	ENST00000274487.4	+	15	2522	c.2377A>T	c.(2377-2379)Aaa>Taa	p.K793*	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	793	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.K793*(1)		NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		CAAGATCATTAAAGGGGATTT	0.343000													40	74					0	0	0.006230	0	0
LHFPL1	340596	broad.mit.edu	37	X	111914366	111914366	+	Missense_Mutation	SNP	T	T	A			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chrX:111914366T>A	ENST00000371968.3	-	2	492	c.253A>T	c.(253-255)Aca>Tca	p.T85S	LHFPL1_ENST00000536453.1_Missense_Mutation_p.T85S|LHFPL1_ENST00000478229.1_Intron	NM_178175.3	NP_835469.1	Q86WI0	LHPL1_HUMAN	lipoma HMGIC fusion partner-like 1	85						integral to membrane		p.T85S(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)	13						GTCACCACTGTGCACATCTGC	0.597000													19	36					0	0	0.008871	0	0
UGT1A6	54578	broad.mit.edu	37	2	234602162	234602162	+	Missense_Mutation	SNP	T	T	A			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr2:234602162T>A	ENST00000305139.6	+	1	651	c.512T>A	c.(511-513)tTc>tAc	p.F171Y	UGT1A6_ENST00000480628.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000373424.1_Intron|AC114812.8_ENST00000439336.1_RNA|UGT1A10_ENST00000344644.5_Intron|UGT1A9_ENST00000354728.4_Intron	NM_001072.3	NP_001063.2												p.F171Y(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)		GTGTACCTCTTCAGGGGTTTT	0.498000													44	128					0	0	0.014410	0	0
DEFB116	245930	broad.mit.edu	37	20	29891154	29891154	+	Missense_Mutation	SNP	T	T	A			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr20:29891154T>A	ENST00000400549.1	-	2	169	c.170A>T	c.(169-171)cAa>cTa	p.Q57L		NM_001037731.1	NP_001032820.1	Q30KQ4	DB116_HUMAN	defensin, beta 116	57					defense response to bacterium	extracellular region		p.Q57L(1)		kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			GGTTAAGTATTGGATTTCATA	0.443000													161	164					0	0	0.014410	0	0
XIRP2	129446	broad.mit.edu	37	2	168108351	168108351	+	Silent	SNP	G	G	T			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr2:168108351G>T	ENST00000409195.1	+	9	10538	c.10449G>T	c.(10447-10449)acG>acT	p.T3483T	XIRP2_ENST00000409273.1_Silent_p.T3261T|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Silent_p.T3483T|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3308					actin cytoskeleton organization	cell junction	actin binding	p.T3483T(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TTCAAAAGACGTGGCAAGAGA	0.413000													18	35					5.35267e-07	6.34085e-07	0.007413	1	0
NAV3	89795	broad.mit.edu	37	12	78515872	78515872	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr12:78515872C>A	ENST00000397909.2	+	16	4075	c.3902C>A	c.(3901-3903)gCt>gAt	p.A1301D	NAV3_ENST00000228327.6_Missense_Mutation_p.A1301D|NAV3_ENST00000266692.7_Intron|NAV3_ENST00000536525.2_Missense_Mutation_p.A1301D			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1301	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	p.A1301D(1)		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						ATGGGCAGTGCTGGTGGGCTA	0.552000										HNSCC(70;0.22)			16	19					8.60227e-14	1.2545e-13	0.004007	1	0
TTC37	9652	broad.mit.edu	37	5	94876421	94876421	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr5:94876421C>G	ENST00000358746.2	-	8	814	c.516G>C	c.(514-516)gaG>gaC	p.E172D		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	172							binding	p.E172D(1)		breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						TATTCTGGTCCTCTGTACTTT	0.353000													33	37					0	0	0.013726	0	0
TUBB8	347688	broad.mit.edu	37	10	93393	93393	+	Silent	SNP	C	C	A			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr10:93393C>A	ENST00000447903.2	-	4	1038	c.723G>T	c.(721-723)gcG>gcT	p.A241A	TUBB8_ENST00000309812.4_Silent_p.A313A			Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII	313					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	p.A313A(1)		NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		AAATGGCAGCCGCCGTTAGGT	0.537000													54	33					2.14255e-21	3.6021e-21	0.014410	1	0
UGT2B4	7363	broad.mit.edu	37	4	70361499	70361499	+	Silent	SNP	C	C	A			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr4:70361499C>A	ENST00000305107.6	-	1	127	c.81G>T	c.(79-81)ctG>ctT	p.L27L	UGT2B4_ENST00000381096.3_Intron|UGT2B4_ENST00000512583.1_Silent_p.L27L|UGT2B4_ENST00000506580.1_5'UTR	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	27					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.L27L(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						TGGGCCACACCAGCACCTTTC	0.458000													40	106					2.5098e-30	4.5795e-30	0.021022	1	0
GJA10	84694	broad.mit.edu	37	6	90605636	90605636	+	Silent	SNP	G	G	A			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr6:90605636G>A	ENST00000369352.1	+	1	1449	c.1449G>A	c.(1447-1449)caG>caA	p.Q483Q		NM_032602.1	NP_115991.1	Q969M2	CXA10_HUMAN	gap junction protein, alpha 10, 62kDa	483					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity	p.Q483Q(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		TGGTAAGACAGGCAGCCCTAC	0.478000													18	52					0	0	0.008871	0	0
F11	2160	broad.mit.edu	37	4	187197457	187197457	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr4:187197457C>A	ENST00000264692.4	+	7	845	c.512C>A	c.(511-513)gCt>gAt	p.A171D	F11_ENST00000403665.2_Missense_Mutation_p.A223D			P03951	FA11_HUMAN	coagulation factor XI	223	Apple 2.				blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis	extracellular space|plasma membrane	heparin binding|serine-type endopeptidase activity	p.A223D(1)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	GCTCCCGATGCTTTTGTCTGT	0.473000													18	50					1.15919e-05	1.32037e-05	0.008871	1	0
TTN	7273	broad.mit.edu	37	2	179435936	179435936	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr2:179435936C>G	ENST00000589042.1	-	326	75147	c.74923G>C	c.(74923-74925)Gaa>Caa	p.E24975Q	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E23334Q|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E16102Q|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E16035Q|TTN_ENST00000460472.2_Missense_Mutation_p.E15910Q|TTN_ENST00000342992.6_Missense_Mutation_p.E22407Q|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586707.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23334	Ig-like 123.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E22407Q(1)|p.E16102Q(1)|p.E22405Q(1)|p.E16035Q(1)|p.E15910Q(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCAACACCTTCTTCAAGGCCA	0.418000													6	102					0	0	0.001984	0	0
UNC79	57578	broad.mit.edu	37	14	94139777	94139777	+	Missense_Mutation	SNP	T	T	A			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr14:94139777T>A	ENST00000553484.1	+	43	7054	c.6900T>A	c.(6898-6900)gaT>gaA	p.D2300E	UNC79_ENST00000256339.4_Missense_Mutation_p.D2101E|UNC79_ENST00000555664.1_Missense_Mutation_p.D2239E|UNC79_ENST00000393151.2_Missense_Mutation_p.D2278E			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2278						integral to membrane		p.D2300E(1)|p.D2101E(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CTTTACCAGATACAAACCTTC	0.378000													24	146					0	0	0.007291	0	0
ZNF429	353088	broad.mit.edu	37	19	21720876	21720876	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr19:21720876G>T	ENST00000358491.4	+	4	2229	c.2021G>T	c.(2020-2022)gGc>gTc	p.G674V	ZNF429_ENST00000597078.1_Intron	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	674					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G674V(1)		endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						gaccgtcctggctaacatggt	0.493000													14	10					9.31168e-06	1.07335e-05	0.016723	1	0
CASP5	838	broad.mit.edu	37	11	104871047	104871047	+	Missense_Mutation	SNP	C	C	T	rs45464699	byFrequency	TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr11:104871047C>T	ENST00000393141.2	-	6	963	c.932G>A	c.(931-933)cGc>cAc	p.R311H	CASP5_ENST00000526056.1_Missense_Mutation_p.R311H|CASP5_ENST00000444749.2_Missense_Mutation_p.R240H|CASP5_ENST00000531367.1_Missense_Mutation_p.R156H|CASP5_ENST00000393139.2_3'UTR|CASP5_ENST00000260315.3_Missense_Mutation_p.R298H|CASP5_ENST00000418434.1_Missense_Mutation_p.R156H	NM_001136112.1|NM_004347.3	NP_001129584.1|NP_004338.3	P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	298					apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding	p.R311H(1)|p.R282H(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		GAGGCAGTTGCGGTTGTTGAA	0.468000													31	100					0	0	0.015359	0	0
POTEH	23784	broad.mit.edu	37	22	16279254	16279254	+	Silent	SNP	T	T	C			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr22:16279254T>C	ENST00000343518.6	-	4	1020	c.969A>G	c.(967-969)caA>caG	p.Q323Q		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	323								p.Q323Q(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						ATTTCACCACTTGCTGTTTTT	0.323000													40	445					0	0	0.014410	0	0
C2orf78	388960	broad.mit.edu	37	2	74040979	74040979	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr2:74040979C>A	ENST00000409561.1	+	2	594	c.473C>A	c.(472-474)tCc>tAc	p.S158Y		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	158								p.S158Y(2)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						GCTGTCTCTTCCATGTCTATG	0.448000													31	8					8.16721e-17	1.24777e-16	0.010818	1	0
TP53	7157	broad.mit.edu	37	17	7579312	7579312	+	Splice_Site	SNP	C	C	A	rs55863639		TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr17:7579312C>A	ENST00000420246.2	-	4	507	c.375_splice	c.e4+1	p.T125_splice	TP53_ENST00000269305.4_Splice_Site_p.T125_splice|TP53_ENST00000359597.4_Splice_Site_p.T125_splice|TP53_ENST00000455263.2_Splice_Site_p.T125_splice|TP53_ENST00000413465.2_Splice_Site_p.T125_splice|TP53_ENST00000445888.2_Splice_Site_p.T125_splice	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	125	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		T -> A (in a sporadic cancer; somatic mutation).|T -> K (in sporadic cancers; somatic mutation).|T -> M (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).|T -> R (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.T125T(51)|p.0?(8)|p.?(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(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)		GGCAACTGACCGTGCAAGTCA	0.537000		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)			38	29					1.465e-08	1.802e-08	0.008740	1	0
TAAR9	134860	broad.mit.edu	37	6	132859760	132859760	+	RNA	SNP	T	T	G			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr6:132859760T>G	ENST00000434551.1	+	0	332					NM_175057.3	NP_778227.3	Q96RI9	TAAR9_HUMAN	trace amine associated receptor 9 (gene/pseudogene)							plasma membrane	G-protein coupled receptor activity					Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.0042)|GBM - Glioblastoma multiforme(226;0.00816)		CATACATGTTTTGACACATCC	0.418000													11	47					0	0	0.013537	0	0
FAT4	79633	broad.mit.edu	37	4	126372736	126372736	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr4:126372736G>T	ENST00000394329.3	+	9	10578	c.10565G>T	c.(10564-10566)cGg>cTg	p.R3522L	FAT4_ENST00000335110.5_Missense_Mutation_p.R1820L	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3522	Cadherin 34.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R3522L(2)		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						GAAAACAAACGGCCAGGCACT	0.488000													37	70					2.75727e-19	4.49809e-19	0.021022	1	0
XAGE5	170627	broad.mit.edu	37	X	52842245	52842245	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chrX:52842245G>T	ENST00000375503.3	+	2	517	c.154G>T	c.(154-156)Gat>Tat	p.D52Y	XAGE5_ENST00000425386.1_Missense_Mutation_p.D52Y|XAGE5_ENST00000351072.1_Missense_Mutation_p.D52Y|XAGE5_ENST00000375501.1_Missense_Mutation_p.D52Y			Q8WWM1	GAGD5_HUMAN	X antigen family, member 5	52								p.D52Y(1)		endometrium(1)|large_intestine(1)|lung(5)|ovary(1)	8						GAGAGAAGATGATCAGGGTGC	0.547000													10	35					1.08611e-07	1.30672e-07	0.010729	1	0
RYR1	6261	broad.mit.edu	37	19	38949803	38949803	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr19:38949803G>T	ENST00000355481.4	+	19	2316	c.2185G>T	c.(2185-2187)Gtg>Ttg	p.V729L	RYR1_ENST00000360985.3_Missense_Mutation_p.V729L|RYR1_ENST00000359596.3_Missense_Mutation_p.V729L	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	729	B30.2/SPRY 1.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.V729L(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GGCACGCCCAGTGACTTCCCC	0.587000													10	14					6.40141e-05	7.00154e-05	0.010729	1	0
DAAM2	23500	broad.mit.edu	37	6	39835296	39835296	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr6:39835296C>T	ENST00000538976.1	+	6	621	c.439C>T	c.(439-441)Cgc>Tgc	p.R147C	DAAM2_ENST00000494405.1_3'UTR|DAAM2_ENST00000398904.2_Missense_Mutation_p.R147C|DAAM2_ENST00000274867.4_Missense_Mutation_p.R147C	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	147	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding	p.R147C(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					GTTTGTGACCCGCTTCATTGA	0.478000													5	112					0	0	0.014758	0	0
TGM4	7047	broad.mit.edu	37	3	44952602	44952602	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr3:44952602C>A	ENST00000296125.4	+	12	1827	c.1759C>A	c.(1759-1761)Cct>Act	p.P587T		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	587					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.P587N(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	TTTCCAGTACCCTGAGTTCTC	0.488000													26	52					3.01185e-09	3.75263e-09	0.021523	1	0
OR1C1	26188	broad.mit.edu	37	1	247921471	247921471	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr1:247921471G>T	ENST00000408896.2	-	1	511	c.238C>A	c.(238-240)Caa>Aaa	p.Q80K		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	80					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q80K(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			ACTACCATTTGGGGGACTGTA	0.463000													12	43					9.31168e-06	1.07335e-05	0.016723	1	0
ELMO1	9844	broad.mit.edu	37	7	37252959	37252959	+	Missense_Mutation	SNP	T	T	G			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr7:37252959T>G	ENST00000310758.4	-	12	1582	c.935A>C	c.(934-936)aAa>aCa	p.K312T	ELMO1_ENST00000442504.1_Missense_Mutation_p.K312T|ELMO1_ENST00000448602.1_Missense_Mutation_p.K312T	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	312					actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding	p.K312T(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						GGGGTCCATTTTGGTCATCAT	0.498000													5	146					0	0	0.014758	0	0
RECQL5	9400	broad.mit.edu	37	17	73627305	73627305	+	Silent	SNP	G	G	A			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr17:73627305G>A	ENST00000317905.5	-	10	1632	c.1473C>T	c.(1471-1473)agC>agT	p.S491S	RECQL5_ENST00000423245.2_Silent_p.S464S|RECQL5_ENST00000443199.2_5'UTR	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5	491					DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding	p.S464S(1)		breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			CTTCATCCCCGCTGCCTCCAG	0.617000								Other identified genes with known or suspected DNA repair function					15	50					0	0	0.003163	0	0
PPAN	56342	broad.mit.edu	37	19	10225118	10225118	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr19:10225118C>A	ENST00000556468.1	+	13	2116	c.2089C>A	c.(2089-2091)Cgc>Agc	p.R697S	P2RY11_ENST00000321826.4_Missense_Mutation_p.R277S|PPAN-P2RY11_ENST00000428358.1_3'UTR|PPAN-P2RY11_ENST00000393796.4_Missense_Mutation_p.R697S					peter pan homolog (Drosophila)									p.R277S(1)|p.R697S(1)		endometrium(3)|liver(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	15			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)			TGCTCGGCGGCGCTGGAGCAC	0.667000													35	16					6.70999e-13	9.56794e-13	0.019004	1	0
UBE3B	89910	broad.mit.edu	37	12	109921467	109921467	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr12:109921467G>T	ENST00000342494.3	+	3	706	c.111G>T	c.(109-111)caG>caT	p.Q37H	UBE3B_ENST00000280774.5_Missense_Mutation_p.Q37H|UBE3B_ENST00000434735.2_Missense_Mutation_p.Q37H|UBE3B_ENST00000540230.1_Missense_Mutation_p.Q37H|UBE3B_ENST00000536398.1_Missense_Mutation_p.Q37H|UBE3B_ENST00000537063.1_Missense_Mutation_p.Q37H|UBE3B_ENST00000340074.5_Missense_Mutation_p.Q37H	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	37	IQ.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity	p.Q37H(1)		NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						TTGTGATCCAGGCCCATGTCC	0.532000													66	50					1.1794e-34	2.20423e-34	0.014410	1	0
TRIM58	25893	broad.mit.edu	37	1	248039358	248039358	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr1:248039358C>T	ENST00000366481.3	+	6	1076	c.1028C>T	c.(1027-1029)tCa>tTa	p.S343L	OR2W3_ENST00000537741.1_Intron	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	343	B30.2/SPRY.					intracellular	zinc ion binding	p.S343L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AGCTTCTCATCAGGGAGGCAT	0.562000													8	80					0	0	0.003080	0	0
PTGER4	5734	broad.mit.edu	37	5	40681206	40681206	+	Silent	SNP	G	G	T			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr5:40681206G>T	ENST00000302472.3	+	2	1135	c.111G>T	c.(109-111)gtG>gtT	p.V37V	PTGER4_ENST00000514343.1_3'UTR	NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN	prostaglandin E receptor 4 (subtype EP4)	37					G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity	p.V37V(1)		breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						GCAACCTGGTGGCCATCGTGG	0.622000											OREG0016588	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	115					2.23348e-06	2.61365e-06	0.004007	1	0
HDAC4	9759	broad.mit.edu	37	2	240011772	240011772	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr2:240011772C>A	ENST00000345617.3	-	18	3097	c.2306G>T	c.(2305-2307)gGg>gTg	p.G769V	HDAC4_ENST00000543185.1_Missense_Mutation_p.G353V	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	769	Histone deacetylase.				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding	p.G769V(1)|p.G769E(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		GCGGGCTGCCCCCGCCGAGTG	0.647000													9	44					2.74318e-10	3.64181e-10	0.006214	1	0
KEAP1	9817	broad.mit.edu	37	19	10602727	10602727	+	Missense_Mutation	SNP	T	T	A			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr19:10602727T>A	ENST00000171111.5	-	3	1398	c.851A>T	c.(850-852)cAg>cTg	p.Q284L	KEAP1_ENST00000588024.1_5'UTR|KEAP1_ENST00000393623.2_Missense_Mutation_p.Q284L	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	284	BACK.		Q -> L (in a lung adenocarcinoma patient).		regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	p.Q284L(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			CTTCTGCAGCTGCATCTGCAG	0.612000													21	17					0	0	0.012319	0	0
C12orf50	160419	broad.mit.edu	37	12	88381709	88381709	+	Silent	SNP	T	T	A			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr12:88381709T>A	ENST00000298699.2	-	9	915	c.735A>T	c.(733-735)ctA>ctT	p.L245L	C12orf50_ENST00000550553.1_Intron	NM_152589.1	NP_689802.1	Q8NA57	CL050_HUMAN	chromosome 12 open reading frame 50	245								p.L245L(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						GTCGGGTAGTTAGGGAATGCT	0.343000													24	19					0	0	0.006320	0	0
RGN	9104	broad.mit.edu	37	X	46949272	46949272	+	Silent	SNP	C	C	T			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chrX:46949272C>T	ENST00000397180.1	+	5	1413	c.444C>T	c.(442-444)gaC>gaT	p.D148D	RGN_ENST00000336169.3_Silent_p.D148D|RGN_ENST00000352078.4_Silent_p.D148D|RGN_ENST00000457380.1_Intron	NM_152869.2	NP_690608.1	Q15493	RGN_HUMAN	regucalcin	148					cellular calcium ion homeostasis|positive regulation of ATPase activity|regulation of calcium-mediated signaling	cytoplasm|nucleus	calcium ion binding|enzyme regulator activity|gluconolactonase activity|zinc ion binding	p.D148D(1)		breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	9						AGTACTTTGACCAGGTGGACA	0.502000													18	61					0	0	0.004990	0	0
KY	339855	broad.mit.edu	37	3	134323159	134323159	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr3:134323159G>C	ENST00000508956.1	-	10	1242	c.1185C>G	c.(1183-1185)atC>atG	p.I395M	KY_ENST00000423778.2_Missense_Mutation_p.I416M|KY_ENST00000503669.1_3'UTR			Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase	416						cytoskeleton|Z disc	peptidase activity	p.I416M(2)		central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						CCTTGGCAAAGATCTGCAGCT	0.537000													21	48					0	0	0.016522	0	0
VEGFC	7424	broad.mit.edu	37	4	177632762	177632762	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr4:177632762C>A	ENST00000280193.2	-	4	1010	c.595G>T	c.(595-597)Gta>Tta	p.V199L	VEGFC_ENST00000507638.1_5'UTR	NM_005429.2	NP_005420.1	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	199					angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity	p.V199L(1)		biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		CTGATTGTTACTGGTTTGGGG	0.383000													39	74					2.59497e-14	3.84255e-14	0.007835	1	0
KCNH8	131096	broad.mit.edu	37	3	19554470	19554470	+	Silent	SNP	C	C	T			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr3:19554470C>T	ENST00000328405.2	+	13	2354	c.2088C>T	c.(2086-2088)ccC>ccT	p.P696P		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	696						integral to membrane	two-component sensor activity	p.P696P(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						AGTCAGAGCCCAAGGGAAATG	0.458000													8	51					0	0	0.006214	0	0
ASZ1	136991	broad.mit.edu	37	7	117025861	117025861	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr7:117025861C>T	ENST00000284629.2	-	5	505	c.443G>A	c.(442-444)aGa>aAa	p.R148K		NM_130768.2	NP_570124.1	Q8WWH4	ASZ1_HUMAN	ankyrin repeat, SAM and basic leucine zipper domain containing 1	148					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	signal transducer activity	p.R148K(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			GGTCATAAGTCTCCTAAGGAG	0.418000													4	42					0	0	0.009096	0	0
PCDHGA2	56113	broad.mit.edu	37	5	140720142	140720142	+	Missense_Mutation	SNP	G	G	T	rs116787237	byFrequency	TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr5:140720142G>T	ENST00000394576.2	+	1	1604	c.1604G>T	c.(1603-1605)cGg>cTg	p.R535L	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1												p.R535L(2)|p.R535Q(2)		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)			GTGATAGCGCGGGACAGCGGG	0.537000													37	48					8.69298e-16	1.31247e-15	0.006999	1	0
PGK2	5232	broad.mit.edu	37	6	49754615	49754615	+	Silent	SNP	G	G	A			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr6:49754615G>A	ENST00000304801.3	-	1	438	c.286C>T	c.(286-288)Ctg>Ttg	p.L96L		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	96					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity	p.L96L(1)		autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					CAGTCCTTCAGGAACAGAACA	0.522000													45	66					0	0	0.013114	0	0
USH2A	7399	broad.mit.edu	37	1	216373371	216373371	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr1:216373371C>A	ENST00000366943.2	-	17	3795	c.3409G>T	c.(3409-3411)Gta>Tta	p.V1137L	RP5-1099E6.3_ENST00000420867.1_RNA|USH2A_ENST00000366942.3_Missense_Mutation_p.V1137L|USH2A_ENST00000307340.3_Missense_Mutation_p.V1137L			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1137	Fibronectin type-III 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	p.V1137L(1)		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)		GTGACAGCTACACTCCTTGTT	0.408000										HNSCC(13;0.011)			26	100					1.42536e-11	1.96689e-11	0.004656	1	0
PLA2G2F	64600	broad.mit.edu	37	1	20474875	20474875	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr1:20474875C>A	ENST00000375102.3	+	5	719	c.617C>A	c.(616-618)gCg>gAg	p.A206E		NM_022819.3	NP_073730.3	Q9BZM2	PA2GF_HUMAN	phospholipase A2, group IIF	163					lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|phospholipase A2 activity	p.A206E(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	15		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000247)|Lung NSC(340;0.000285)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.000524)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)		CAATCCCCAGCGCCCCCCGCC	0.647000													14	19					7.93312e-07	9.36887e-07	0.020292	1	0
MEX3B	84206	broad.mit.edu	37	15	82336286	82336286	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr15:82336286C>A	ENST00000329713.4	-	2	1360	c.925G>T	c.(925-927)Gca>Tca	p.A309S	MEX3B_ENST00000558133.1_3'UTR	NM_032246.3	NP_115622.2	Q6ZN04	MEX3B_HUMAN	mex-3 RNA binding family member B	309					protein autophosphorylation	cytoplasmic mRNA processing body|nucleus	calcium ion binding|RNA binding|zinc ion binding	p.A309S(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)	19						GTAGCCGCTGCGCTGCTGCTG	0.617000													27	23					1.42536e-11	1.96689e-11	0.004656	1	0
DNM2	1785	broad.mit.edu	37	19	10886572	10886572	+	Silent	SNP	C	C	T			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr19:10886572C>T	ENST00000314646.5	+	4	743	c.579C>T	c.(577-579)gtC>gtT	p.V193V	DNM2_ENST00000359692.6_Silent_p.V193V|DNM2_ENST00000389253.4_Silent_p.V193V|DNM2_ENST00000355667.6_Silent_p.V193V|DNM2_ENST00000585892.1_Silent_p.V193V|DNM2_ENST00000591819.1_3'UTR|DNM2_ENST00000408974.4_Silent_p.V193V			P50570	DYN2_HUMAN	dynamin 2	193					G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding	p.V193V(2)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			CCAAGGAAGTCGATCCCCAAG	0.607000			"""F, N, Splice, Mis, O"""		ETP ALL								4	26					0	0	0.009096	0	0
UNC5C	8633	broad.mit.edu	37	4	96091427	96091427	+	Silent	SNP	G	G	T			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr4:96091427G>T	ENST00000453304.1	-	15	2856	c.2508C>A	c.(2506-2508)gtC>gtA	p.V836V		NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	836					apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity	p.V836V(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		TGGGCCCCGTGACCGTGGTGA	0.577000													58	144					2.2129e-31	4.09599e-31	0.014410	1	0
ZSCAN4	201516	broad.mit.edu	37	19	58189585	58189585	+	Missense_Mutation	SNP	T	T	A			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr19:58189585T>A	ENST00000318203.5	+	5	1311	c.614T>A	c.(613-615)gTa>gAa	p.V205E		NM_152677.2	NP_689890.1	Q8NAM6	ZSCA4_HUMAN	zinc finger and SCAN domain containing 4	205					telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.V205E(1)		endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ACTACTCGAGTAAATGAAAAT	0.398000													13	10					0	0	0.016723	0	0
SIGLEC9	27180	broad.mit.edu	37	19	51628941	51628941	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr19:51628941G>T	ENST00000440804.3	+	2	576	c.509G>T	c.(508-510)tGt>tTt	p.C170F	SIGLEC9_ENST00000250360.3_Missense_Mutation_p.C170F	NM_001198558.1	NP_001185487.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	170	Ig-like C2-type 1.				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding	p.C170F(1)		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)		CCCTGGGCCTGTGAGCAGGGG	0.652000													51	83					5.13769e-22	8.7137e-22	0.014410	1	0
ATP1A4	480	broad.mit.edu	37	1	160144384	160144384	+	Missense_Mutation	SNP	G	G	T	rs150078418		TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr1:160144384G>T	ENST00000368081.4	+	15	2629	c.2158G>T	c.(2158-2160)Gtg>Ttg	p.V720L	ATP1A4_ENST00000418334.1_3'UTR	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	720					ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	p.V720L(1)|p.V720M(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CGTTGTGGCCGTGACAGGTGA	0.542000													29	35					8.16721e-17	1.24777e-16	0.010818	1	0
BBOX1	8424	broad.mit.edu	37	11	27078781	27078781	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr11:27078781G>A	ENST00000263182.3	+	4	621	c.253G>A	c.(253-255)Gaa>Aaa	p.E85K	BBOX1_ENST00000525090.1_Missense_Mutation_p.E85K|BBOX1_ENST00000528583.1_Missense_Mutation_p.E85K|BBOX1_ENST00000527505.1_3'UTR|BBOX1_ENST00000529202.1_Missense_Mutation_p.E85K|RP11-1L12.3_ENST00000526061.1_RNA	NM_003986.2	NP_003977.1	O75936	BODG_HUMAN	butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1	85					carnitine biosynthetic process	actin cytoskeleton|cytosol|intracellular membrane-bounded organelle	gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	p.E85K(1)		breast(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	23					Succinic acid(DB00139)|Vitamin C(DB00126)	GCATTACAGTGAATTCCAGGC	0.403000													19	95					0	0	0.016522	0	0
MLH3	27030	broad.mit.edu	37	14	75515141	75515141	+	Silent	SNP	C	C	T			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr14:75515141C>T	ENST00000355774.2	-	2	1433	c.1218G>A	c.(1216-1218)ttG>ttA	p.L406L	MLH3_ENST00000556257.1_Silent_p.L406L|MLH3_ENST00000238662.7_Silent_p.L406L|MLH3_ENST00000556740.1_Silent_p.L406L|MLH3_ENST00000380968.2_5'UTR	NM_001040108.1	NP_001035197.1	Q9UHC1	MLH3_HUMAN	mutL homolog 3	406					mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding	p.L406L(2)		breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		CTTTTGACTGCAAATTAAACA	0.353000								Mismatch excision repair (MMR)					13	41					0	0	0.013537	0	0
OR2G3	81469	broad.mit.edu	37	1	247769612	247769612	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr1:247769612C>A	ENST00000320002.2	+	1	757	c.725C>A	c.(724-726)tCc>tAc	p.S242Y	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	242					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S242Y(1)		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)			AGCACCTGCTCCTCCCACCTT	0.483000													15	47					1.52009e-12	2.1516e-12	0.003163	1	0
NGDN	25983	broad.mit.edu	37	14	23944436	23944436	+	Silent	SNP	G	G	A			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr14:23944436G>A	ENST00000397154.3	+	4	214	c.201G>A	c.(199-201)ttG>ttA	p.L67L	NGDN_ENST00000408901.3_Silent_p.L67L			Q8NEJ9	NGDN_HUMAN	neuroguidin, EIF4E binding protein	67	Necessary for interaction with EIF4E (By similarity).				regulation of translation	axon|cytoplasm|dendrite|filopodium|nucleus		p.L67L(2)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	12	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		TTATGGATTTGACCCACCTCA	0.458000													9	163					0	0	0.006214	0	0
KCNJ3	3760	broad.mit.edu	37	2	155555721	155555721	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr2:155555721G>C	ENST00000295101.2	+	1	911	c.434G>C	c.(433-435)gGc>gCc	p.G145A	KCNJ3_ENST00000544049.1_Missense_Mutation_p.G145A	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	145					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	p.G145A(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	GCCACCATCGGCTATGGCTAC	0.562000													17	28					0	0	0.007413	0	0
CP	1356	broad.mit.edu	37	3	148927062	148927062	+	Nonsense_Mutation	SNP	G	G	T			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr3:148927062G>T	ENST00000264613.6	-	4	979	c.717C>A	c.(715-717)taC>taA	p.Y239*		NM_000096.3	NP_000087.1	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	239	F5/8 type A 1.|Plastocyanin-like 2.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity	p.Y239*(1)		breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	GTTCTGAGCAGTAGGTTTTAA	0.348000													18	64					5.01169e-05	5.54455e-05	0.004990	1	0
ZNF117	51351	broad.mit.edu	37	7	64438693	64438693	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr7:64438693C>A	ENST00000282869.5	-	4	2540	c.1256G>T	c.(1255-1257)tGt>tTt	p.C419F		NM_015852.3	NP_056936.2	Q03924	ZN117_HUMAN	zinc finger protein 117	419						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.C419F(1)		breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(1)|skin(1)	22		Lung NSC(55;0.0295)|all_lung(88;0.0691)				ACATTCTTCACATTTGTAGAG	0.378000													41	25					2.26627e-22	3.86069e-22	0.007835	1	0
FBXO2	26232	broad.mit.edu	37	1	11710099	11710100	+	Frame_Shift_Ins	INS	-	-	A			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr1:11710099_11710100insA	ENST00000354287.4	-	3	764_765	c.423_424insT	c.(421-426)cagtggfs	p.QW141fs		NM_012168.5	NP_036300.2	Q9UK22	FBX2_HUMAN	F-box protein 2	141	FBA.				glycoprotein catabolic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|endoplasmic reticulum|membrane|microsome|SCF ubiquitin ligase complex	sugar binding|ubiquitin-protein ligase activity			kidney(1)|large_intestine(1)|lung(4)	6	Ovarian(185;0.249)	Lung NSC(185;9.37e-06)|all_lung(284;1.39e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|BRCA - Breast invasive adenocarcinoma(304;1.88e-06)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|Lung(427;0.0146)|LUSC - Lung squamous cell carcinoma(448;0.0228)|READ - Rectum adenocarcinoma(331;0.0649)		CCGTCCCCACCATGCTCCACGT	0.599													23	147	---	---	---	---					
UBR4	23352	broad.mit.edu	37	1	19481480	19481480	+	Frame_Shift_Del	DEL	T	T	-	rs149131327		TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr1:19481480delT	ENST00000375267.2	-	44	6393	c.6390delA	c.(6388-6390)aafs	p.K2130fs	UBR4_ENST00000375226.2_Frame_Shift_Del_p.K2130fs|UBR4_ENST00000375217.2_Frame_Shift_Del_p.K2130fs|UBR4_ENST00000375254.3_Frame_Shift_Del_p.K2130fs			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2130					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CTGCGAATGATTTGCCTTGAC	0.512													15	119	---	---	---	---					
NLRP3	114548	broad.mit.edu	37	1	247588869	247588869	+	Frame_Shift_Del	DEL	C	C	-	rs149493236		TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr1:247588869delC	ENST00000366497.2	+	4	2904	c.2124delC	c.(2122-2124)ctfs	p.L708fs	NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000366496.2_Frame_Shift_Del_p.L708fs|NLRP3_ENST00000336119.3_Frame_Shift_Del_p.L708fs|NLRP3_ENST00000391827.2_Frame_Shift_Del_p.L708fs|NLRP3_ENST00000391828.3_Frame_Shift_Del_p.L708fs|NLRP3_ENST00000348069.2_Frame_Shift_Del_p.L708fs	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	708					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			AGTGTGTCCTCCCAAGCTCCT	0.567													21	74	---	---	---	---					
ANKRD36BP2	645784	broad.mit.edu	37	2	89083945	89083946	+	RNA	INS	-	-	GC			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr2:89083945_89083946insGC	ENST00000393525.3	+	0	576																											GTATTCCTTTTTTTTCAGTGTA	0.347													2	4	---	---	---	---					
LRP1B	53353	broad.mit.edu	37	2	140997062	140997062	+	Frame_Shift_Del	DEL	G	G	-			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr2:140997062delG	ENST00000389484.3	-	88	14335	c.13364delC	c.(13363-13365)atfs	p.T4455fs		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4455					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GGTTATCAAAGTCACCAAGAG	0.323										TSP Lung(27;0.18)			7	12	---	---	---	---					
AC073321.4	0	broad.mit.edu	37	2	217475032	217475032	+	RNA	DEL	A	A	-	rs71401156		TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr2:217475032delA	ENST00000441803.1	+	0	195																											ATTTTATTTCAAAAAAAAAAA	0.373													6	2	---	---	---	---					
CPB1	1360	broad.mit.edu	37	3	148558565	148558565	+	Frame_Shift_Del	DEL	G	G	-			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr3:148558565delG	ENST00000491148.1	+	5	699	c.365delG	c.(364-366)tgfs	p.W122fs	CPB1_ENST00000282957.4_Frame_Shift_Del_p.W122fs			P15086	CBPB1_HUMAN	carboxypeptidase B1 (tissue)	122					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			TACAACAAGTGGGAAACGGTA	0.423													24	64	---	---	---	---					
NEDD9	4739	broad.mit.edu	37	6	11185423	11185423	+	Frame_Shift_Del	DEL	C	C	-			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr6:11185423delC	ENST00000379446.5	-	7	2643	c.2477delG	c.(2476-2478)ccfs	p.R826fs	NEDD9_ENST00000504387.1_Frame_Shift_Del_p.R826fs|RP3-510L9.1_ENST00000500636.2_RNA	NM_001271033.1|NM_006403.3	NP_001257962.1|NP_006394.1	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally down-regulated 9	826					actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth	cell cortex|focal adhesion|Golgi apparatus|lamellipodium|nucleus	protein binding			endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			CAGCAAAGAGCGCTTGAACAG	0.498													7	78	---	---	---	---					
LAMB1	3912	broad.mit.edu	37	7	107569639	107569640	+	Frame_Shift_Ins	INS	-	-	T			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr7:107569639_107569640insT	ENST00000393561.1	-	29	5012_5013	c.4828_4829insA	c.(4828-4830)agafs	p.R1610fs	LAMB1_ENST00000222399.6_Frame_Shift_Ins_p.R1586fs			P07942	LAMB1_HUMAN	laminin, beta 1	1586	Domain I.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTTAACATCTGTTGCACTTTTG	0.386													77	72	---	---	---	---					
AKR1C2	1646	broad.mit.edu	37	10	5040858	5040859	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr10:5040858_5040859delGG	ENST00000380753.4	-	5	715_716	c.528_529delCC	c.(526-531)attcfs	p.IL176fs	AKR1C2_ENST00000421196.3_Frame_Shift_Del_p.IL150fs|AKR1C2_ENST00000407674.1_Frame_Shift_Del_p.IL176fs	NM_205845.2	NP_995317.1	P52895	AK1C2_HUMAN	aldo-keto reductase family 1, member C2	176					digestion|prostaglandin metabolic process|steroid metabolic process	cytoplasm	androsterone dehydrogenase (A-specific) activity|bile acid binding|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity			breast(1)|large_intestine(5)|lung(3)|skin(1)	10					NADH(DB00157)|Ursodeoxycholic acid(DB01586)	GGCTTGTTGAGGATCATCTCCA	0.525													10	57	---	---	---	---					
SYT9	143425	broad.mit.edu	37	11	7441837	7441837	+	Frame_Shift_Del	DEL	C	C	-			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr11:7441837delC	ENST00000318881.6	+	6	1675	c.1438delC	c.(1438-1440)ccfs	p.P480fs		NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	480						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		TCCTCGGAAGCCCATTGCACA	0.502													33	47	---	---	---	---					
CHST1	8534	broad.mit.edu	37	11	45671461	45671461	+	Frame_Shift_Del	DEL	C	C	-			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr11:45671461delC	ENST00000308064.2	-	4	1683	c.1013delG	c.(1012-1014)gcfs	p.G338fs		NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1	338					galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		GGTGGGGTCGCCCCGCGTGTT	0.642													40	72	---	---	---	---					
ROCK1P1	727758	broad.mit.edu	37	18	112402	112405	+	RNA	DEL	AACC	AACC	-	rs113232824		TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr18:112402_112405delAACC	ENST00000576266.1	+	0	36_39																											CCCTGCCCCGAACCACCCGACCCC	0.711													3	5	---	---	---	---					
ONECUT2	9480	broad.mit.edu	37	18	55103477	55103479	+	In_Frame_Del	DEL	CAC	CAC	-			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chr18:55103477_55103479delCAC	ENST00000491143.2	+	1	561_563	c.529_531delCAC	c.(529-531)del	p.H184del		NM_004852.2	NP_004843.2	O95948	ONEC2_HUMAN	one cut homeobox 2	184	Poly-His.				organ morphogenesis	nucleus	sequence-specific DNA binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)		ccaccatccgcaccaccaccacc	0.655													2	4	---	---	---	---					
CSAG4	100130935	broad.mit.edu	37	X	151896259	151896259	+	RNA	DEL	T	T	-			TCGA-49-4488-01A-01D-1753-08	TCGA-49-4488-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3635bb9c-a332-4445-ad81-83cec426dd02	232307bb-5ab4-48c2-a008-8684ce7e1056	g.chrX:151896259delT	ENST00000361201.4	-	0	471					NR_073432.1															endometrium(2)|kidney(2)|lung(1)	5						ATTCCTCAGGTTTTTTTGAAG	0.517													11	106	---	---	---	---					
