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
IGSF10	285313	broad.mit.edu	37	3	151154847	151154847	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr3:151154847C>G	ENST00000282466.3	-	6	7501	c.7502G>C	c.(7501-7503)aGa>aCa	p.R2501T	MED12L_ENST00000474524.1_3'UTR|IGSF10_ENST00000495443.1_5'UTR	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	2501	Ig-like C2-type 11.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATAGTTTCCTCTGTCATAAGC	0.393000													40	142					0	0	0.00148497	0	0
APLP2	334	broad.mit.edu	37	11	130000002	130000002	+	Missense_Mutation	SNP	C	C	T	rs149975560		TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr11:130000002C>T	ENST00000263574.5	+	11	1597	c.1525C>T	c.(1525-1527)Cgt>Tgt	p.R509C	APLP2_ENST00000278756.7_Missense_Mutation_p.R519C|APLP2_ENST00000345598.5_Missense_Mutation_p.R280C|APLP2_ENST00000543137.1_Missense_Mutation_p.R416C|APLP2_ENST00000338167.5_Missense_Mutation_p.R509C|APLP2_ENST00000528499.1_Missense_Mutation_p.R453C|APLP2_ENST00000539648.1_Missense_Mutation_p.R297C	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	509					G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		ACATACCATCCGTCATTACCA	0.478000													24	113					0	0	0.00395357	0	0
LRRC4	64101	broad.mit.edu	37	7	127670193	127670193	+	Silent	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr7:127670193G>A	ENST00000249363.3	-	2	758	c.501C>T	c.(499-501)ttC>ttT	p.F167F	SND1_ENST00000354725.3_Intron	NM_022143.4	NP_071426.1	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4	167						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26				Lung(243;0.124)		GCACCCGGTTGAAGGCGTAAG	0.572000													20	79					0	0	0.00188189	0	0
DGKD	8527	broad.mit.edu	37	2	234354353	234354353	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr2:234354353C>T	ENST00000264057.2	+	11	1291	c.1279C>T	c.(1279-1281)Cag>Tag	p.Q427*	DGKD_ENST00000409813.3_Nonsense_Mutation_p.Q383*	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	427	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	TGACGACACCCAGCTCCCCCA	0.607000													28	40					0	0	0.001512	0	0
LRRC4	64101	broad.mit.edu	37	7	127669962	127669962	+	Silent	SNP	G	G	C			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr7:127669962G>C	ENST00000249363.3	-	2	989	c.732C>G	c.(730-732)ctC>ctG	p.L244L	SND1_ENST00000354725.3_Intron	NM_022143.4	NP_071426.1	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4	244						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26				Lung(243;0.124)		AGAGCTTCTTGAGGGAGCTCA	0.572000													17	40					0	0	0.000566183	0	0
MAP2	4133	broad.mit.edu	37	2	210543343	210543343	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr2:210543343G>T	ENST00000360351.4	+	5	816	c.310G>T	c.(310-312)Gca>Tca	p.A104S	MAP2_ENST00000199940.6_Missense_Mutation_p.A104S|MAP2_ENST00000361559.4_Missense_Mutation_p.A104S|MAP2_ENST00000392194.1_Missense_Mutation_p.A104S|MAP2_ENST00000447185.1_Missense_Mutation_p.A104S	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	104					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	TGAGGCTGTAGCAGTCCTGAA	0.413000													30	44					3.1745e-13	1.21156e-12	0.001512	1	0
ZNF391	346157	broad.mit.edu	37	6	27368900	27368900	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr6:27368900T>C	ENST00000244576.4	+	3	1296	c.751T>C	c.(751-753)Tgc>Cgc	p.C251R		NM_001076781.1	NP_001070249.1	Q9UJN7	ZN391_HUMAN	zinc finger protein 391	251					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|large_intestine(6)|lung(7)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	21						TCCCTATGAATGCAGTAAATG	0.438000													4	30					0	0	0.000602214	0	0
KIAA1804	84451	broad.mit.edu	37	1	233489592	233489592	+	Silent	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr1:233489592C>T	ENST00000366624.3	+	3	1287	c.1026C>T	c.(1024-1026)gtC>gtT	p.V342V	MLK4_ENST00000366623.3_Silent_p.V342V	NM_032435.2	NP_115811.2																					CCGGAGAAGTCCCCTATCGGG	0.517000													18	57					0	0	0.000566183	0	0
LRIT3	345193	broad.mit.edu	37	4	110790844	110790844	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr4:110790844G>A	ENST00000327908.3	+	4	1154	c.390G>A	c.(388-390)atG>atA	p.M130I	LRIT3_ENST00000594814.1_Missense_Mutation_p.M313I|LRIT3_ENST00000409621.2_Missense_Mutation_p.M130I|LRIT3_ENST00000379920.3_Missense_Mutation_p.M268I			Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 3	268			S -> N (in dbSNP:rs4698797).			integral to membrane				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		GGTCCATAATGAGCTTGACAG	0.423000													23	116					0	0	0.00229938	0	0
IRF1	3659	broad.mit.edu	37	5	131820153	131820153	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr5:131820153C>T	ENST00000245414.4	-	9	1012	c.754G>A	c.(754-756)Gat>Aat	p.D252N	IRF1_ENST00000405885.2_Missense_Mutation_p.D252N	NM_002198.2	NP_002189.1	P10914	IRF1_HUMAN	interferon regulatory factor 1	252					blood coagulation|cellular response to mechanical stimulus|interferon-gamma-mediated signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleoplasm				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.026)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)		CCCTTCCCATCCACGTTTGTT	0.567000													23	146					0	0	0.00229938	0	0
OR5M11	219487	broad.mit.edu	37	11	56309925	56309925	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr11:56309925G>T	ENST00000528616.2	-	1	832	c.809C>A	c.(808-810)tCt>tAt	p.S270Y		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						TATTATTTTAGATTCCTCAAC	0.408000													23	69					9.95505e-16	3.86898e-15	0.00229938	1	0
MYO3B	140469	broad.mit.edu	37	2	171243774	171243774	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr2:171243774C>G	ENST00000334231.6	+	14	1560	c.1560C>G	c.(1558-1560)atC>atG	p.I520M	MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Missense_Mutation_p.I511M|MYO3B_ENST00000408978.4_Missense_Mutation_p.I511M			Q8WXR4	MYO3B_HUMAN	myosin IIIB	511	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						GGGCAAGAATCTCTGAATATC	0.428000													23	64					0	0	0.000720815	0	0
ATRX	546	broad.mit.edu	37	X	76937979	76937979	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chrX:76937979C>A	ENST00000373344.5	-	9	2983	c.2769G>T	c.(2767-2769)aaG>aaT	p.K923N	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.K885N	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	923					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TCCCAGAAAGCTTATCGACAC	0.398000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						41	230					4.32679e-17	1.68777e-16	0.00148497	1	0
SMYD4	114826	broad.mit.edu	37	17	1704088	1704088	+	Silent	SNP	T	T	C			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr17:1704088T>C	ENST00000305513.7	-	5	767	c.600A>G	c.(598-600)gaA>gaG	p.E200E		NM_052928.2	NP_443160.2	Q8IYR2	SMYD4_HUMAN	SET and MYND domain containing 4	200							zinc ion binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1)	21						GACTGTCCTTTTCTTGCATCT	0.498000													48	164					0	0	0.00361006	0	0
ATG4A	115201	broad.mit.edu	37	X	107377334	107377334	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chrX:107377334A>C	ENST00000372232.3	+	5	499	c.340A>C	c.(340-342)Atc>Ctc	p.I114L	ATG4A_ENST00000372254.3_Missense_Mutation_p.I90L|ATG4A_ENST00000345734.3_Missense_Mutation_p.I114L|ATG4A_ENST00000545696.1_Missense_Mutation_p.I37L	NM_052936.3	NP_443168.2	Q8WYN0	ATG4A_HUMAN	autophagy related 4A, cysteine peptidase	114					autophagy|protein transport|proteolysis	cytoplasm	cysteine-type peptidase activity			endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)	11						ATACCAACGCATCCTACAGTG	0.348000													14	21					0	0	0.000566183	0	0
ROS1	6098	broad.mit.edu	37	6	117709162	117709162	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr6:117709162C>T	ENST00000368508.3	-	13	1993	c.1795G>A	c.(1795-1797)Gaa>Aaa	p.E599K	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Intron	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	599	Fibronectin type-III 3.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GGGCCTAATTCAAAGAGTTCA	0.438000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								31	86					0	0	0.001512	0	0
ALDH1A3	220	broad.mit.edu	37	15	101448628	101448628	+	Silent	SNP	C	C	T	rs145659258		TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr15:101448628C>T	ENST00000329841.5	+	12	1939	c.1407C>T	c.(1405-1407)aaC>aaT	p.N469N	ALDH1A3_ENST00000346623.6_Silent_p.N362N|RP11-66B24.4_ENST00000560351.1_RNA	NM_000693.2	NP_000684.2	P47895	AL1A3_HUMAN	aldehyde dehydrogenase 1 family, member A3	469					retinal metabolic process	cytoplasm	aldehyde dehydrogenase|protein homodimerization activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		NADH(DB00157)|Vitamin A(DB00162)	ACTGCTACAACGCCCTCTATG	0.512000													10	37					0	0	0.000442599	0	0
MYO3A	53904	broad.mit.edu	37	10	26377303	26377303	+	Silent	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr10:26377303C>T	ENST00000265944.5	+	15	1697	c.1531C>T	c.(1531-1533)Ctg>Ttg	p.L511L	MYO3A_ENST00000543632.1_Silent_p.L511L	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	511	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TGAATATCTCCTGGAAAAATC	0.343000													4	36					0	0	0.00116845	0	0
CATSPER1	117144	broad.mit.edu	37	11	65788061	65788061	+	Silent	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr11:65788061G>A	ENST00000312106.5	-	7	2102	c.1965C>T	c.(1963-1965)atC>atT	p.I655I		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	655					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						ACTGGATGATGATGTAAATTA	0.597000													9	39					0	0	0.000274275	0	0
KCNMB1	3779	broad.mit.edu	37	5	169805750	169805750	+	Silent	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr5:169805750C>T	ENST00000274629.4	-	4	976	c.534G>A	c.(532-534)gtG>gtA	p.V178V	KCNIP1_ENST00000377360.4_Intron|KCNIP1_ENST00000518527.1_Intron	NM_004137.3	NP_004128.1	Q16558	KCMB1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 1	178					platelet activation|synaptic transmission		calcium-activated potassium channel activity|potassium channel regulator activity			endometrium(1)|large_intestine(1)|lung(7)|ovary(2)	11	Renal(175;0.000159)|Lung NSC(126;0.0165)|all_lung(126;0.026)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.175)		GGTTGCTCTTCACCATGGCGA	0.627000													21	82					0	0	0.00152264	0	0
KDM2B	84678	broad.mit.edu	37	12	121947475	121947475	+	Silent	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr12:121947475C>T	ENST00000377069.4	-	11	1855	c.1449G>A	c.(1447-1449)ctG>ctA	p.L483L	KDM2B_ENST00000536437.1_Silent_p.L397L|KDM2B_ENST00000377071.4_Silent_p.L514L|KDM2B_ENST00000538046.2_Silent_p.L424L|KDM2B_ENST00000542973.1_5'UTR	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	514					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						TCAGGCCCTTCAGTTCAAACT	0.597000													16	59					0	0	0.000566183	0	0
EZH2	2146	broad.mit.edu	37	7	148515125	148515125	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr7:148515125G>A	ENST00000320356.2	-	10	1205	c.1084C>T	c.(1084-1086)Cgg>Tgg	p.R362W	EZH2_ENST00000476773.1_Missense_Mutation_p.R348W|EZH2_ENST00000478654.1_Missense_Mutation_p.R348W|EZH2_ENST00000483967.1_Missense_Mutation_p.R348W|EZH2_ENST00000541220.1_Missense_Mutation_p.R348W|EZH2_ENST00000460911.1_Missense_Mutation_p.R357W|EZH2_ENST00000350995.2_Missense_Mutation_p.R318W	NM_001203247.1|NM_001203248.1|NM_004456.4	NP_001190176.1|NP_001190177.1|NP_004447.2	Q15910	EZH2_HUMAN	enhancer of zeste homolog 2 (Drosophila)	357					negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			TTGGGAAGCCGTCCTCTTCTG	0.537000			Mis		DLBCL								25	104					0	0	0.00278032	0	0
LY9	4063	broad.mit.edu	37	1	160769734	160769734	+	Nonsense_Mutation	SNP	C	C	T	rs12049314		TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr1:160769734C>T	ENST00000263285.5	+	2	346	c.316C>T	c.(316-318)Cga>Tga	p.R106*	LY9_ENST00000368040.1_5'UTR|LY9_ENST00000471816.1_3'UTR|LY9_ENST00000341032.4_Nonsense_Mutation_p.R106*|LY9_ENST00000368041.2_Nonsense_Mutation_p.R66*|LY9_ENST00000368039.2_Nonsense_Mutation_p.R106*	NM_001261456.1|NM_002348.3	NP_001248385.1|NP_002339.2	Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	106	Ig-like V-type 1.				cell adhesion|immunoglobulin mediated immune response	integral to membrane				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)			CTACCTGGGCCGACTAGACAT	0.448000													17	87					0	0	0.00400662	0	0
UNC119	9094	broad.mit.edu	37	17	26874665	26874665	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr17:26874665C>T	ENST00000470125.1	-	3	1113	c.355G>A	c.(355-357)Gaa>Aaa	p.E119K	UNC119_ENST00000301032.4_Missense_Mutation_p.E214K|UNC119_ENST00000335765.4_Intron|UNC119_ENST00000484980.1_Intron			Q13432	U119A_HUMAN	unc-119 homolog (C. elegans)	0					phototransduction|synaptic transmission|visual perception	cytosol|soluble fraction				breast(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	7	Lung NSC(42;0.00431)					GCCCCCACTTCCCCACTCCCA	0.612000													13	29					0	0	0.00244969	0	0
BBS9	27241	broad.mit.edu	37	7	33296932	33296932	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr7:33296932C>T	ENST00000242067.6	+	6	1048	c.527C>T	c.(526-528)cCt>cTt	p.P176L	BBS9_ENST00000355070.2_Missense_Mutation_p.P176L|BBS9_ENST00000425508.2_Missense_Mutation_p.P131L|BBS9_ENST00000354265.4_Missense_Mutation_p.P176L|BBS9_ENST00000350941.3_Missense_Mutation_p.P176L|BBS9_ENST00000396127.2_Missense_Mutation_p.P176L	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	176					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding		BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			AGATTTCTCCCTGGCTTTCTT	0.433000									Bardet-Biedl syndrome				19	46					0	0	0.000958276	0	0
EFHC1	114327	broad.mit.edu	37	6	52317592	52317592	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr6:52317592C>T	ENST00000371068.5	+	4	783	c.680C>T	c.(679-681)tCa>tTa	p.S227L	EFHC1_ENST00000538167.1_Missense_Mutation_p.S208L|EFHC1_ENST00000433625.2_Missense_Mutation_p.S136L	NM_018100.3	NP_060570.2	Q5JVL4	EFHC1_HUMAN	EF-hand domain (C-terminal) containing 1	227						axoneme|neuronal cell body	calcium ion binding|protein C-terminus binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27	Lung NSC(77;0.109)					GTCACCCCATCAGACTTTGAT	0.398000													22	88					0	0	0.00188189	0	0
ITGB1	3688	broad.mit.edu	37	10	33200509	33200509	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr10:33200509C>T	ENST00000396033.2	-	13	1933	c.1798G>A	c.(1798-1800)Gaa>Aaa	p.E600K	ITGB1_ENST00000302278.3_Missense_Mutation_p.E600K|ITGB1_ENST00000423113.1_Missense_Mutation_p.E600K|ITGB1_ENST00000374956.4_Missense_Mutation_p.E600K	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	600	Cysteine-rich tandem repeats.				axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)				TTGCTGGCTTCACAAGTACTA	0.493000													27	138					0	0	0.000720815	0	0
KIAA0907	22889	broad.mit.edu	37	1	155903485	155903485	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr1:155903485T>C	ENST00000368320.3	-	2	219	c.194A>G	c.(193-195)aAg>aGg	p.K65R	KIAA0907_ENST00000482337.1_5'UTR|KIAA0907_ENST00000368319.3_Missense_Mutation_p.K65R|KIAA0907_ENST00000368321.3_Missense_Mutation_p.K65R			Q7Z7F0	K0907_HUMAN	KIAA0907	65										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			GGCATTAATCTTGGCAGCCAC	0.542000													5	21					0	0	0.000602214	0	0
NUTM1	256646	broad.mit.edu	37	15	34649146	34649146	+	Silent	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr15:34649146G>A	ENST00000537011.1	+	8	3319	c.2937G>A	c.(2935-2937)gaG>gaA	p.E979E	NUTM1_ENST00000438749.3_Silent_p.E969E|NUTM1_ENST00000333756.4_Silent_p.E951E					NUT midline carcinoma, family member 1																		CTTTACAAGAGAGTCAGGAGT	0.502000													9	56					0	0	0.000274275	0	0
MUC16	94025	broad.mit.edu	37	19	9061995	9061995	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr19:9061995G>A	ENST00000397910.4	-	3	25654	c.25451C>T	c.(25450-25452)tCc>tTc	p.S8484F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8486	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CATAATGGGGGAAGTAGAAAG	0.488000													70	205					0	0	0.00361006	0	0
LTN1	26046	broad.mit.edu	37	21	30318479	30318479	+	Silent	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr21:30318479G>A	ENST00000361371.4	-	20	3768	c.3618C>T	c.(3616-3618)ttC>ttT	p.F1206F	LTN1_ENST00000389194.2_Silent_p.F1252F	NM_015565.2	NP_056380.2	O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	1206							ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						CCTACCAACTGAAAAGAAAAA	0.308000													17	98					0	0	0.000958276	0	0
EPHA2	1969	broad.mit.edu	37	1	16456829	16456829	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr1:16456829C>T	ENST00000358432.5	-	15	2715	c.2561G>A	c.(2560-2562)tGg>tAg	p.W854*		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	854	Mediates interaction with ARHGEF16 and ELMO2.|Protein kinase.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	CTCCTGCTGCCAGCACTGCAT	0.612000													16	51					0	0	0.00316338	0	0
THOC2	57187	broad.mit.edu	37	X	122767863	122767863	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chrX:122767863C>T	ENST00000245838.8	-	20	2108	c.2077G>A	c.(2077-2079)Gag>Aag	p.E693K	THOC2_ENST00000491737.1_Missense_Mutation_p.E578K|THOC2_ENST00000355725.4_Missense_Mutation_p.E693K	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	693					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						GTCATTTCCTCTGTAATTTCT	0.333000													18	87					0	0	0.000958276	0	0
BACH2	60468	broad.mit.edu	37	6	90660231	90660231	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr6:90660231C>G	ENST00000257749.4	-	7	2301	c.1594G>C	c.(1594-1596)Ggg>Cgg	p.G532R	RP3-512E2.2_ENST00000445838.1_RNA|RP3-512E2.2_ENST00000413986.1_RNA|BACH2_ENST00000537989.1_Missense_Mutation_p.G532R|BACH2_ENST00000343122.3_Missense_Mutation_p.G532R	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	532						nucleus	protein dimerization activity|sequence-specific DNA binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		CCCCCGCTCCCGTCCTCCGCG	0.622000													17	51					0	0	0.00074312	0	0
ARC	23237	broad.mit.edu	37	8	143695543	143695543	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr8:143695543C>G	ENST00000356613.2	-	1	1290	c.90G>C	c.(88-90)caG>caC	p.Q30H		NM_015193.3	NP_056008.1	Q7LC44	ARC_HUMAN	activity-regulated cytoskeleton-associated protein	30					endocytosis	acrosomal vesicle|cell junction|dendritic spine|endosome|postsynaptic density|postsynaptic membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	13	all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.0279)				ACTTCCCGATCTGCAGGATCA	0.726000													4	19					0	0	0.00024832	0	0
PCDH12	51294	broad.mit.edu	37	5	141335106	141335106	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr5:141335106G>A	ENST00000231484.3	-	1	3521	c.2311C>T	c.(2311-2313)Cag>Tag	p.Q771*		NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	771					neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTGCCTTCTGAATGTGTTTC	0.587000													11	62					0	0	0.00136819	0	0
ALX1	8092	broad.mit.edu	37	12	85695240	85695240	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr12:85695240C>T	ENST00000316824.3	+	4	1123	c.968C>T	c.(967-969)tCa>tTa	p.S323L		NM_006982.2	NP_008913.2	Q15699	ALX1_HUMAN	ALX homeobox 1	323					brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26				GBM - Glioblastoma multiforme(134;0.134)		GCCAATATTTCATGGGCCATG	0.368000													16	50					0	0	0.00316338	0	0
NCOR1	9611	broad.mit.edu	37	17	15964844	15964844	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr17:15964844C>G	ENST00000268712.3	-	37	6009	c.5752G>C	c.(5752-5754)Gag>Cag	p.E1918Q	NCOR1_ENST00000395857.3_Missense_Mutation_p.E502Q|NCOR1_ENST00000395851.1_Intron	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1918	Interaction with C1D (By similarity).				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GTCCTTAGCTCTTCCTCATAT	0.498000													59	192					0	0	0.00361006	0	0
HPS6	79803	broad.mit.edu	37	10	103826348	103826348	+	Missense_Mutation	SNP	G	G	A	rs140222296		TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr10:103826348G>A	ENST00000299238.5	+	1	1202	c.1117G>A	c.(1117-1119)Ggg>Agg	p.G373R		NM_024747.5	NP_079023.2	Q86YV9	HPS6_HUMAN	Hermansky-Pudlak syndrome 6	373						cytosol|early endosome membrane|endoplasmic reticulum|microsome				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		GGAGACCCGAGGGAATCTTCG	0.572000									Hermansky-Pudlak syndrome				11	60					0	0	0.000673444	0	0
ARID2	196528	broad.mit.edu	37	12	46245639	46245639	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr12:46245639C>T	ENST00000334344.6	+	15	3905	c.3733C>T	c.(3733-3735)Caa>Taa	p.Q1245*	ARID2_ENST00000444670.1_Nonsense_Mutation_p.Q855*|ARID2_ENST00000422737.1_Nonsense_Mutation_p.Q1096*|ARID2_ENST00000479608.1_3'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1245					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		AATAATTTGCCAAAAGGAGGA	0.458000			"""N, S, F"""		hepatocellular carcinoma								14	57					0	0	0.00244969	0	0
CDH3	1001	broad.mit.edu	37	16	68721545	68721545	+	Silent	SNP	C	C	T	rs140790125	byFrequency	TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr16:68721545C>T	ENST00000264012.4	+	12	2245	c.1701C>T	c.(1699-1701)atC>atT	p.I567I	CDH3_ENST00000581171.1_Silent_p.I512I|CDH3_ENST00000429102.2_Silent_p.I567I	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	567	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		TGCTGAACATCACGGACAAGG	0.562000													25	70					0	0	0.000720815	0	0
WDR7	23335	broad.mit.edu	37	18	54423844	54423844	+	Silent	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr18:54423844C>T	ENST00000254442.3	+	15	2231	c.2020C>T	c.(2020-2022)Ctg>Ttg	p.L674L	WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Silent_p.L674L	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	674										NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		TCATAACTCCCTGATGGTTCA	0.308000													16	64					0	0	0.00074312	0	0
IRF1	3659	broad.mit.edu	37	5	131820066	131820066	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr5:131820066C>G	ENST00000245414.4	-	9	1099	c.841G>C	c.(841-843)Gac>Cac	p.D281H	IRF1_ENST00000405885.2_Missense_Mutation_p.D281H	NM_002198.2	NP_002189.1	P10914	IRF1_HUMAN	interferon regulatory factor 1	281					blood coagulation|cellular response to mechanical stimulus|interferon-gamma-mediated signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleoplasm				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.026)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)		CCTGGGCTGTCAATTTCTGGC	0.552000													19	99					0	0	0.00188189	0	0
RYR3	6263	broad.mit.edu	37	15	34105687	34105687	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr15:34105687C>T	ENST00000389232.4	+	74	10479	c.10409C>T	c.(10408-10410)tCc>tTc	p.S3470F	RYR3_ENST00000415757.3_Missense_Mutation_p.S3465F	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3470					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CCTTTGAGGTCCAAGAAGGCC	0.532000													29	113					0	0	0.00106085	0	0
PPM1M	132160	broad.mit.edu	37	3	52283691	52283691	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr3:52283691C>G	ENST00000323588.4	+	10	1123	c.758C>G	c.(757-759)tCa>tGa	p.S253*	PPM1M_ENST00000457351.2_Nonsense_Mutation_p.S414*|PPM1M_ENST00000296487.4_3'UTR|PPM1M_ENST00000409502.3_Nonsense_Mutation_p.S202*			Q96MI6	PPM1M_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1M	0					protein dephosphorylation	nucleus	CTD phosphatase activity|manganese ion binding			prostate(1)|urinary_tract(1)	2				BRCA - Breast invasive adenocarcinoma(193;2.4e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)		CACAGGTTCTCAAAGCTGGCC	0.537000													7	22					0	0	0.00307968	0	0
WDR44	54521	broad.mit.edu	37	X	117526618	117526618	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chrX:117526618G>C	ENST00000254029.3	+	4	605	c.210G>C	c.(208-210)gaG>gaC	p.E70D	WDR44_ENST00000493448.1_3'UTR|WDR44_ENST00000371825.3_Missense_Mutation_p.E70D|WDR44_ENST00000371822.5_Missense_Mutation_p.E45D	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN	WD repeat domain 44	70	Binding activity.					cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm				breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						TTATTGAGGAGAGTCAGAAAG	0.343000													19	65					0	0	0.00074312	0	0
SMC4	10051	broad.mit.edu	37	3	160135570	160135570	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr3:160135570G>A	ENST00000357388.3	+	11	1948	c.1497G>A	c.(1495-1497)atG>atA	p.M499I	SMC4_ENST00000469762.1_Missense_Mutation_p.M474I|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000344722.5_Missense_Mutation_p.M499I|SMC4_ENST00000462787.1_Missense_Mutation_p.M499I|SMC4_ENST00000360111.2_Missense_Mutation_p.M499I	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	499					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GTTCAAAGATGGATGTAGCCC	0.378000													19	79					0	0	0.00188189	0	0
KDM7A	80853	broad.mit.edu	37	7	139801957	139801957	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr7:139801957C>T	ENST00000397560.2	-	12	1529	c.1432G>A	c.(1432-1434)Gaa>Aaa	p.E478K	JHDM1D_ENST00000006967.5_Missense_Mutation_p.E478K	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7_HUMAN		478					midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					TTGCCGTTTTCCTCCTTTAAG	0.348000													25	62					0	0	0.00395357	0	0
DENND5B	160518	broad.mit.edu	37	12	31605306	31605306	+	Silent	SNP	A	A	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr12:31605306A>T	ENST00000389082.5	-	5	1461	c.1197T>A	c.(1195-1197)gtT>gtA	p.V399V	DENND5B_ENST00000536562.1_Silent_p.V434V|DENND5B_ENST00000354285.4_Silent_p.V421V|DENND5B_ENST00000306833.6_Silent_p.V434V	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	399						integral to membrane				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						ATTGAACAAGAACCTCAGAGA	0.403000													17	66					0	0	0.000958276	0	0
JRK	8629	broad.mit.edu	37	8	143746149	143746149	+	RNA	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr8:143746149C>T	ENST00000507178.2	-	0	1661									jerky homolog (mouse)													all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;2.31e-05)				cctcccttcccgctacccccc	0.647000													5	12					0	0	0.000602214	0	0
FAM86C1	55199	broad.mit.edu	37	11	71500886	71500886	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr11:71500886C>A	ENST00000359244.4	+	2	177	c.154C>A	c.(154-156)Cag>Aag	p.Q52K	FAM86C1_ENST00000426628.2_Missense_Mutation_p.Q52K|FAM86C1_ENST00000346333.6_Missense_Mutation_p.Q52K|FAM86C1_ENST00000528685.1_Missense_Mutation_p.Q52K	NM_018172.2	NP_060642.2	Q9NVL1	FA86C_HUMAN	family with sequence similarity 86, member C1	52										lung(1)	1						GGATATTTTGCAGAAGGTAAG	0.483000													20	72					6.44725e-10	2.43435e-09	0.00229938	1	0
F2	2147	broad.mit.edu	37	11	46747651	46747651	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr11:46747651G>A	ENST00000311907.5	+	7	858	c.802G>A	c.(802-804)Gat>Aat	p.D268N	F2_ENST00000530231.1_Missense_Mutation_p.D268N	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN	coagulation factor II (thrombin)	268	Kringle 2.				activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction	calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898)	CCCAGACGGGGATGAGGAGGG	0.632000													21	121					0	0	0.00188189	0	0
ACTC1	70	broad.mit.edu	37	15	35082673	35082673	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr15:35082673C>G	ENST00000290378.4	-	7	1729	c.1074G>C	c.(1072-1074)tgG>tgC	p.W358C	RP11-814P5.1_ENST00000503496.1_RNA	NM_005159.4	NP_005150.1	P68032	ACTC_HUMAN	actin, alpha, cardiac muscle 1	358					apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	actomyosin, actin part|cytosol|I band	ATP binding|ATPase activity|myosin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		GCTTGCTAATCCACATTTGCT	0.502000													41	91					0	0	0.0025221	0	0
OCM2	4951	broad.mit.edu	37	7	97617811	97617811	+	Silent	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr7:97617811G>A	ENST00000257627.4	-	2	202	c.111C>T	c.(109-111)tcC>tcT	p.S37S	OCM2_ENST00000473987.2_5'UTR	NM_006188.3	NP_006179.2	P0CE71	OCM2_HUMAN	oncomodulin 2	37							calcium ion binding			lung(4)	4						CTGACATCTTGGAGAGGCCTG	0.458000													42	128					0	0	0.00222228	0	0
CEP135	9662	broad.mit.edu	37	4	56820513	56820513	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr4:56820513C>G	ENST00000257287.4	+	4	560	c.436C>G	c.(436-438)Caa>Gaa	p.Q146E	CEP135_ENST00000422247.2_Missense_Mutation_p.Q146E	NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	146					centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					TCAACAACTTCAAGAAAAGAA	0.323000													21	48					0	0	0.00332997	0	0
PIAS4	51588	broad.mit.edu	37	19	4037462	4037462	+	Silent	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr19:4037462G>A	ENST00000262971.2	+	10	1348	c.1233G>A	c.(1231-1233)aaG>aaA	p.K411K		NM_015897.2	NP_056981.2	Q8N2W9	PIAS4_HUMAN	protein inhibitor of activated STAT, 4	411					positive regulation of protein sumoylation|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|PML body	DNA binding|SUMO ligase activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(3)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGCCGAAAAGGAGCGCAGCT	0.687000													8	31					0	0	0.00307968	0	0
SIRPA	140885	broad.mit.edu	37	20	1895762	1895762	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr20:1895762G>A	ENST00000358771.4	+	2	249	c.97G>A	c.(97-99)Gag>Aag	p.E33K	SIRPA_ENST00000356025.3_Missense_Mutation_p.E33K|SIRPA_ENST00000400068.3_Missense_Mutation_p.E33K	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	33	Ig-like V-type.				blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		GGGTGAGGAGGAGCTGCAGGT	0.527000													11	15					0	0	0.000978159	0	0
NT5C1A	84618	broad.mit.edu	37	1	40131889	40131889	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr1:40131889A>G	ENST00000235628.1	-	2	154	c.155T>C	c.(154-156)gTc>gCc	p.V52A		NM_032526.1	NP_115915.1	Q9BXI3	5NT1A_HUMAN	5'-nucleotidase, cytosolic IA	52					purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding			breast(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)	15	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			AGCGATGGTGACTGCATTCTG	0.592000													7	36					0	0	0.00307968	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117375087	117375087	+	Silent	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr7:117375087G>A	ENST00000160373.3	-	16	3847	c.3756C>T	c.(3754-3756)gcC>gcT	p.A1252A		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1252										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		CCTGGAGACAGGCCTTGGCGA	0.537000													6	45					0	0	0.00116845	0	0
ACVR1B	91	broad.mit.edu	37	12	52369156	52369156	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr12:52369156C>T	ENST00000257963.4	+	2	276	c.199C>T	c.(199-201)Cgc>Tgc	p.R67C	ACVR1B_ENST00000426655.2_Missense_Mutation_p.R67C|ACVR1B_ENST00000541224.1_Missense_Mutation_p.R67C|ACVR1B_ENST00000542485.1_Missense_Mutation_p.R15C|ACVR1B_ENST00000415850.2_Missense_Mutation_p.R67C	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN	activin A receptor, type IB	67					G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway	cell surface	activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding			breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	GCACCATGTGCGCACCTGCAT	0.592000													18	46					0	0	0.00074312	0	0
L1CAM	3897	broad.mit.edu	37	X	153128177	153128177	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chrX:153128177C>T	ENST00000370060.1	-	29	3904	c.3715G>A	c.(3715-3717)Ggg>Agg	p.G1239R	L1CAM_ENST00000370055.1_Missense_Mutation_p.G1230R|L1CAM_ENST00000370057.3_Missense_Mutation_p.G1239R|L1CAM_ENST00000361699.4_Missense_Mutation_p.G1235R|L1CAM_ENST00000361981.3_Missense_Mutation_p.G1230R|L1CAM_ENST00000543994.1_Missense_Mutation_p.G1241R|L1CAM_ENST00000538883.1_Missense_Mutation_p.G1237R	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	1239			G -> E.		axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCATTGCCCCCTGCCGCCTCC	0.602000													22	67					0	0	0.00229938	0	0
NSFL1C	55968	broad.mit.edu	37	20	1433208	1433208	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr20:1433208G>A	ENST00000216879.4	-	7	1582	c.715C>T	c.(715-717)Cgg>Tgg	p.R239W	NSFL1C_ENST00000353088.2_Missense_Mutation_p.R208W|NSFL1C_ENST00000461211.1_5'UTR|NSFL1C_ENST00000381658.4_Missense_Mutation_p.R128W|NSFL1C_ENST00000350991.4_Missense_Mutation_p.R241W|NSFL1C_ENST00000476071.1_Missense_Mutation_p.R241W	NM_016143.4	NP_057227.2	Q9UNZ2	NSF1C_HUMAN	NSFL1 (p97) cofactor (p47)	239	SEP.					chromosome|Golgi stack|nucleus	lipid binding|protein binding			breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						TCCTCGTCCCGATGGTCCTCC	0.572000													55	144					0	0	0.00361006	0	0
CRB1	23418	broad.mit.edu	37	1	197390489	197390489	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr1:197390489G>A	ENST00000367400.3	+	6	1666	c.1531G>A	c.(1531-1533)Gcc>Acc	p.A511T	CRB1_ENST00000544212.1_5'UTR|CRB1_ENST00000367399.2_Missense_Mutation_p.A399T|CRB1_ENST00000476483.1_3'UTR|CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000543483.1_Missense_Mutation_p.A210T|CRB1_ENST00000535699.1_Missense_Mutation_p.A442T|CRB1_ENST00000538660.1_Missense_Mutation_p.A511T	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	511	Laminin G-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TTGTAACATAGCCCTCAGGTT	0.488000													30	61					0	0	0.00178596	0	0
DDB1	1642	broad.mit.edu	37	11	61084032	61084032	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr11:61084032C>T	ENST00000301764.7	-	11	1630	c.1233G>A	c.(1231-1233)tgG>tgA	p.W411*	DDB1_ENST00000450997.2_Intron|DDB1_ENST00000545930.1_5'UTR	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	411	Interaction with CDT1.|Interaction with CUL4A.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						ACCGCAGTGGCCATAATCCTG	0.532000								Nucleotide excision repair (NER)					29	104					0	0	0.00106085	0	0
ENPP4	22875	broad.mit.edu	37	6	46108043	46108043	+	Silent	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr6:46108043C>T	ENST00000321037.4	+	2	953	c.723C>T	c.(721-723)acC>acT	p.T241T		NM_014936.4	NP_055751.1	Q9Y6X5	ENPP4_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)	241						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						ATGGGATGACCCAGTGTTCTC	0.393000													18	62					0	0	0.000566183	0	0
EGFR	1956	broad.mit.edu	37	7	55221821	55221821	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr7:55221821G>A	ENST00000275493.2	+	7	1042	c.865G>A	c.(865-867)Gcc>Acc	p.A289T	EGFR_ENST00000455089.1_Missense_Mutation_p.A244T|EGFR_ENST00000420316.2_Missense_Mutation_p.A289T|EGFR_ENST00000344576.2_Missense_Mutation_p.A289T|EGFR_ENST00000342916.3_Missense_Mutation_p.A289T|EGFR_ENST00000442591.1_Missense_Mutation_p.A289T|EGFR_ENST00000454757.2_Missense_Mutation_p.A236T	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	289					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.A289T(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CAGCTTTGGTGCCACCTGCGT	0.592000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			12	51					0	0	0.000978159	0	0
GNAS	2778	broad.mit.edu	37	20	57429461	57429461	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr20:57429461C>G	ENST00000371100.4	+	1	1693	c.1141C>G	c.(1141-1143)Cct>Gct	p.P381A	GNAS_ENST00000313949.7_Intron|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000603534.1_Intron|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000371102.4_Missense_Mutation_p.P381A|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000371099.2_Missense_Mutation_p.P381A|GNAS_ENST00000306120.3_Silent_p.P317P	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GTACGGATCCCCTGCCGCCGG	0.682000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)			3	5					0	0	6.4e-05	0	0
ATP6V0B	533	broad.mit.edu	37	1	44441472	44441472	+	Splice_Site	SNP	G	G	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr1:44441472G>T	ENST00000532642.1	+	2	165	c.67_splice	c.e2-1	p.G23_splice	ATP6V0B_ENST00000472277.1_Intron|ATP6V0B_ENST00000472174.2_Splice_Site_p.G23_splice|ATP6V0B_ENST00000236067.4_Intron|ATP6V0B_ENST00000471859.2_Intron			Q99437	VATO_HUMAN	ATPase, H+ transporting, lysosomal 21kDa, V0 subunit b	23					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|proton-transporting V-type ATPase, V0 domain|vacuolar membrane	hydrogen ion transmembrane transporter activity	p.G23V(1)		breast(2)|kidney(1)|large_intestine(3)|lung(3)	9	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				ACTGCTGCAGGAGTCTGCTAC	0.552000													49	171					4.32865e-36	1.73309e-35	0.00361006	1	0
CATSPERD	257062	broad.mit.edu	37	19	5733907	5733907	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr19:5733907C>T	ENST00000381624.3	+	5	378	c.317C>T	c.(316-318)tCg>tTg	p.S106L	CATSPERD_ENST00000381614.2_5'UTR	NM_152784.3	NP_689997.3	Q86XM0	TM146_HUMAN	catsper channel auxiliary subunit delta	106						integral to membrane											TTTGCTGGTTCGTTATTGCTG	0.313000													10	40					0	0	0.000442599	0	0
THRA	7067	broad.mit.edu	37	17	38245491	38245491	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr17:38245491G>C	ENST00000450525.2	+	9	1506	c.1015G>C	c.(1015-1017)Gag>Cag	p.E339Q	THRA_ENST00000264637.4_Missense_Mutation_p.E339Q|THRA_ENST00000546243.1_Missense_Mutation_p.E339Q|THRA_ENST00000584985.1_Missense_Mutation_p.E339Q|THRA_ENST00000394121.4_Missense_Mutation_p.E339Q	NM_199334.3	NP_955366.1	P10827	THA_HUMAN	thyroid hormone receptor, alpha	339	Ligand-binding.				negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter	cytosol|nucleoplasm	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Levothyroxine(DB00451)|Liothyronine(DB00279)	GGACAAGATCGAGAAGAGTCA	0.622000													23	116					0	0	0.00332997	0	0
PLA2R1	22925	broad.mit.edu	37	2	160832579	160832579	+	Splice_Site	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr2:160832579C>T	ENST00000283243.7	-	17	2801	c.2595_splice	c.e17+1	p.A865_splice	PLA2R1_ENST00000392771.1_Splice_Site_p.A865_splice	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	865	C-type lectin 5.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						GTTCAAGTACCGCTTTTATTT	0.413000													26	43					0	0	0.00127121	0	0
ZXDB	158586	broad.mit.edu	37	X	57618953	57618953	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chrX:57618953G>A	ENST00000374888.1	+	1	685	c.472G>A	c.(472-474)Gcc>Acc	p.A158T		NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	158					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						cccgatctccgcccccggccc	0.751000													6	15					0	0	0.000274275	0	0
SPDEF	25803	broad.mit.edu	37	6	34507170	34507170	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr6:34507170G>A	ENST00000374037.3	-	5	1100	c.686C>T	c.(685-687)tCg>tTg	p.S229L	SPDEF_ENST00000544425.1_Missense_Mutation_p.S213L	NM_012391.2	NP_036523.1	O95238	SPDEF_HUMAN	SAM pointed domain containing ETS transcription factor	229					negative regulation of survival gene product expression|negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.S229L(1)		central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)	15						CTCACTGGTCGAGGCTGGGTG	0.667000													22	109					0	0	0.00188189	0	0
TP53	7157	broad.mit.edu	37	17	7579533	7579533	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr17:7579533G>A	ENST00000420246.2	-	4	286	c.154C>T	c.(154-156)Caa>Taa	p.Q52*	TP53_ENST00000413465.2_Nonsense_Mutation_p.Q52*|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q52*|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q52*|TP53_ENST00000359597.4_Nonsense_Mutation_p.Q52*|TP53_ENST00000269305.4_Nonsense_Mutation_p.Q52*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	52	Interaction with HRMT1L2.		Q -> H (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Q52*(12)|p.0?(8)|p.Q52>P*(1)|p.E51fs*59(1)|p.I50fs*4(1)|p.D48fs*55(1)|p.Q52fs*67(1)|p.Q52fs*6(1)|p.E51_Q52insX(1)|p.P13fs*18(1)|p.S33fs*23(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)		GTGAACCATTGTTCAATATCG	0.592000		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)			67	183					0	0	0.00361006	0	0
MAP3K10	4294	broad.mit.edu	37	19	40704316	40704316	+	Silent	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr19:40704316C>T	ENST00000253055.3	+	2	1005	c.717C>T	c.(715-717)ctC>ctT	p.L239L	MAP3K10_ENST00000593906.1_3'UTR	NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	239	Protein kinase.				activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						ACCACAACCTCGCAGACACGG	0.647000													14	44					0	0	0.00400662	0	0
METTL24	728464	broad.mit.edu	37	6	110567452	110567452	+	Silent	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr6:110567452G>A	ENST00000338882.4	-	5	797	c.798C>T	c.(796-798)ctC>ctT	p.L266L	CDC40_ENST00000368930.1_Intron|CDC40_ENST00000368933.1_Intron	NM_001123364.1	NP_001116836.1	Q5JXM2	CF186_HUMAN	methyltransferase like 24	266						extracellular region											GATCTGCCTTGAGAACGTCAA	0.373000													10	28					0	0	0.000442599	0	0
KCTD4	386618	broad.mit.edu	37	13	45768657	45768657	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr13:45768657C>T	ENST00000405872.1	-	2	449	c.46G>A	c.(46-48)Ggg>Agg	p.G16R	GTF2F2_ENST00000340473.6_Intron|KCTD4_ENST00000379108.1_Missense_Mutation_p.G16R	NM_198404.2	NP_940686.2	Q8WVF5	KCTD4_HUMAN	potassium channel tetramerization domain containing 4	16						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|endometrium(1)|large_intestine(2)|lung(4)	8		Lung NSC(96;6.55e-05)|Breast(139;0.00378)|Prostate(109;0.00438)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000249)|BRCA - Breast invasive adenocarcinoma(63;0.207)		TTGTGTTTCCCTTCATACTCC	0.353000													40	121					0	0	0.00128727	0	0
RXRB	6257	broad.mit.edu	37	6	33164363	33164363	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr6:33164363G>A	ENST00000374680.3	-	5	1052	c.841C>T	c.(841-843)Cgg>Tgg	p.R281W	RXRB_ENST00000374685.4_Missense_Mutation_p.R281W|RXRB_ENST00000544186.1_Missense_Mutation_p.R91W|RXRB_ENST00000413614.2_Missense_Mutation_p.R185W	NM_001270401.1|NM_021976.4	NP_001257330.1|NP_068811.1	P28702	RXRB_HUMAN	retinoid X receptor, beta	281	Hinge.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2)	15					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	TCCTTTCCCCGCTGACGCTCC	0.602000													11	67					0	0	0.000978159	0	0
MYL6	4637	broad.mit.edu	37	12	56552256	56552256	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr12:56552256G>A	ENST00000536128.1	+	1	111	c.71G>A	c.(70-72)cGa>cAa	p.R24Q	MYL6_ENST00000550697.1_Intron|MYL6_ENST00000548400.1_Intron|MYL6_ENST00000548293.1_Intron|MYL6_ENST00000549566.1_Missense_Mutation_p.R24Q|MYL6_ENST00000547649.1_Intron|MYL6_ENST00000549017.1_Intron|MYL6_ENST00000348108.4_Intron|MYL6_ENST00000548580.1_Intron|MYL6_ENST00000551589.1_Intron|MYL6_ENST00000293422.5_Intron|MYL6_ENST00000547408.1_Intron|RP11-603J24.18_ENST00000548571.1_RNA			P60660	MYL6_HUMAN	myosin, light chain 6, alkali, smooth muscle and non-muscle	0	EF-hand 1.				axon guidance|muscle filament sliding|skeletal muscle tissue development	cytosol|unconventional myosin complex	actin-dependent ATPase activity|calcium ion binding|motor activity|structural constituent of muscle			large_intestine(1)|lung(1)|ovary(1)|prostate(3)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(18;0.0979)			GGTGGGGGGCGAGGAGAAGGC	0.637000													6	18					0	0	0.00116845	0	0
UBR3	130507	broad.mit.edu	37	2	170917856	170917856	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr2:170917856C>T	ENST00000272793.5	+	35	4972	c.4922C>T	c.(4921-4923)tCc>tTc	p.S1641F	UBR3_ENST00000418381.1_Missense_Mutation_p.S1641F|UBR3_ENST00000392631.1_Missense_Mutation_p.S462F			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1641					sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						TCTCCTGAATCCATGGAAAAA	0.368000													45	77					0	0	0.00361006	0	0
KCNT2	343450	broad.mit.edu	37	1	196303052	196303052	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr1:196303052A>G	ENST00000367433.5	-	17	2023	c.1922T>C	c.(1921-1923)aTt>aCt	p.I641T	KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000367431.4_Missense_Mutation_p.I591T|KCNT2_ENST00000294725.8_Missense_Mutation_p.I641T|KCNT2_ENST00000451324.2_Missense_Mutation_p.I252T			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	641						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						ACATGTTTGAATCGATGATGT	0.403000													14	42					0	0	0.00244969	0	0
PCK2	5106	broad.mit.edu	37	14	24566131	24566131	+	Silent	SNP	C	C	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr14:24566131C>A	ENST00000216780.4	+	2	328	c.60C>A	c.(58-60)ggC>ggA	p.G20G	PCK2_ENST00000561286.1_Intron|NRL_ENST00000561028.1_Intron|PCK2_ENST00000560657.1_3'UTR|PCK2_ENST00000559250.1_Silent_p.G32G|PCK2_ENST00000558096.1_5'UTR|PCK2_ENST00000396973.4_Silent_p.G20G|PCK2_ENST00000545054.2_5'UTR	NM_004563.2	NP_004554.2	Q16822	PCKGM_HUMAN	phosphoenolpyruvate carboxykinase 2 (mitochondrial)	20					gluconeogenesis	mitochondrial matrix	GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(265;0.0184)		GCCCCTTGGGCTGGCCATCAT	0.567000													28	115					2.79863e-10	1.06048e-09	0.000720815	1	0
PDE8B	8622	broad.mit.edu	37	5	76645309	76645309	+	Silent	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr5:76645309C>T	ENST00000264917.5	+	8	987	c.942C>T	c.(940-942)ctC>ctT	p.L314L	PDE8B_ENST00000346042.3_Intron|PDE8B_ENST00000342343.4_Silent_p.L294L|PDE8B_ENST00000340978.3_Intron|PDE8B_ENST00000333194.4_Silent_p.L314L	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	314	PAS.				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		GAAAAGAACTCGCTGATCTGC	0.502000													22	68					0	0	0.00332997	0	0
KCNJ4	3761	broad.mit.edu	37	22	38823608	38823608	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr22:38823608C>T	ENST00000303592.3	-	2	788	c.530G>A	c.(529-531)cGg>cAg	p.R177Q		NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	IRK4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 4	177					synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding			endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					CTTCTTGGGCCGCGCCATCTT	0.642000													8	51					0	0	0.00307968	0	0
CPD	1362	broad.mit.edu	37	17	28706100	28706100	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr17:28706100C>G	ENST00000225719.4	+	1	178	c.102C>G	c.(100-102)atC>atG	p.I34M		NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	34	Carboxypeptidase-like 1.				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						CGGCTCACATCAAGAAGGCGG	0.706000													3	5					0	0	6.4e-05	0	0
CLDN10	9071	broad.mit.edu	37	13	96205036	96205036	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr13:96205036C>T	ENST00000299339.2	+	1	58	c.29C>T	c.(28-30)gCc>gTc	p.A10V	CLDN10_ENST00000376873.3_Intron	NM_006984.4	NP_008915.1	P78369	CLD10_HUMAN	claudin 10	10					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	15	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.18)			GAGATCATCGCCTTCATGGTC	0.672000													13	18					0	0	0.00244969	0	0
KLC1	3831	broad.mit.edu	37	14	104142025	104142025	+	Splice_Site	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr14:104142025G>A	ENST00000389744.4	+	11	1580		c.e11-1		KLC1_ENST00000347839.6_Splice_Site|KLC1_ENST00000557575.1_Splice_Site|KLC1_ENST00000554280.1_Splice_Site|RP11-73M18.2_ENST00000472726.2_Splice_Site|KLC1_ENST00000553286.1_Splice_Site|KLC1_ENST00000380038.3_Splice_Site|KLC1_ENST00000246489.7_Splice_Site|KLC1_ENST00000557450.1_Splice_Site|KLC1_ENST00000334553.6_Splice_Site|KLC1_ENST00000452929.2_Splice_Site|KLC1_ENST00000445352.4_Splice_Site|KLC1_ENST00000348520.6_Splice_Site|KLC1_ENST00000555836.1_Splice_Site			Q07866	KLC1_HUMAN	kinesin light chain 1						blood coagulation|microtubule-based movement|stress granule disassembly	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding		KLC1/ALK(2)	NS(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	12		Melanoma(154;0.155)|all_epithelial(191;0.19)				TTATAATTTAGGGAAAGCAAA	0.328000													9	39					0	0	0.000978159	0	0
C1orf172	126695	broad.mit.edu	37	1	27277199	27277199	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr1:27277199C>A	ENST00000320567.5	-	3	1176	c.1088G>T	c.(1087-1089)cGg>cTg	p.R363L		NM_152365.2	NP_689578.2	Q8NAX2	CA172_HUMAN	chromosome 1 open reading frame 172	363										NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		CCTCAGCTTCCGGGCGATGGC	0.597000													33	120					5.71845e-15	2.19829e-14	0.00111076	1	0
ANKS4B	257629	broad.mit.edu	37	16	21262063	21262063	+	Silent	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr16:21262063G>A	ENST00000311620.5	+	2	1249	c.1176G>A	c.(1174-1176)agG>agA	p.R392R		NM_145865.2	NP_665872.2	Q8N8V4	ANS4B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 4B	392	SAM.									NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20				GBM - Glioblastoma multiforme(48;0.0565)		TGGGTCCCAGGAAGAAAGTTC	0.512000													26	99					0	0	0.000720815	0	0
KMT2D	8085	broad.mit.edu	37	12	49420049	49420049	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr12:49420049C>T	ENST00000301067.7	-	48	15699	c.15700G>A	c.(15700-15702)Gag>Aag	p.E5234K		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		CCGTTGTTCTCACCAATAGAA	0.597000													25	65					0	0	0.00332997	0	0
ZNF442	79973	broad.mit.edu	37	19	12474424	12474424	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr19:12474424C>G	ENST00000242804.4	-	3	604	c.22G>C	c.(22-24)Gac>Cac	p.D8H	ZNF442_ENST00000438182.1_Intron	NM_030824.2	NP_110451.1	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	8					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						TCACTTCTGTCTTCTCCCCCA	0.473000													22	99					0	0	0.00278032	0	0
ABHD16B	140701	broad.mit.edu	37	20	62493551	62493551	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr20:62493551G>A	ENST00000369916.3	+	1	986	c.658G>A	c.(658-660)Gcc>Acc	p.A220T		NM_080622.3	NP_542189.1	Q9H3Z7	ABHGB_HUMAN	abhydrolase domain containing 16B	220							hydrolase activity			endometrium(2)|kidney(1)|lung(3)	6						TCAGCACGACGCCAACGCCAT	0.692000													12	20					0	0	0.00136819	0	0
TTC37	9652	broad.mit.edu	37	5	94830705	94830705	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr5:94830705C>T	ENST00000358746.2	-	35	3951	c.3653G>A	c.(3652-3654)gGa>gAa	p.G1218E		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	1218							binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						AGCCACATTTCCTGCTACAAC	0.303000													14	77					0	0	0.00316338	0	0
ENTPD7	57089	broad.mit.edu	37	10	101458317	101458317	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr10:101458317G>A	ENST00000370489.4	+	10	1215	c.1037G>A	c.(1036-1038)aGt>aAt	p.S346N		NM_020354.3	NP_065087.1	Q9NQZ7	ENTP7_HUMAN	ectonucleoside triphosphate diphosphohydrolase 7	346						cytoplasmic vesicle membrane|integral to membrane	hydrolase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)		ACAGGTCTGAGTCCCGACAAT	0.473000													15	43					0	0	0.00074312	0	0
NEUROD2	4761	broad.mit.edu	37	17	37761719	37761719	+	Silent	SNP	C	C	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr17:37761719C>A	ENST00000302584.4	-	2	1354	c.1134G>T	c.(1132-1134)gcG>gcT	p.A378A		NM_006160.3	NP_006151.3	Q15784	NDF2_HUMAN	neuronal differentiation 2	378					cellular response to calcium ion|cellular response to electrical stimulus|cerebellar cortex development|negative regulation of synapse maturation|positive regulation of calcium-mediated signaling|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of synapse maturation|positive regulation of synaptic plasticity|protein ubiquitination|regulation of transcription from RNA polymerase II promoter	nucleus	E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	8	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Lung(15;0.00549)|LUAD - Lung adenocarcinoma(14;0.0664)			TATGAAAAAACGCATTGAGCT	0.612000													6	15					0.00198382	0.00694664	0.00198382	1	0
LAMC3	10319	broad.mit.edu	37	9	133932455	133932455	+	Silent	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr9:133932455G>A	ENST00000361069.4	+	12	2212	c.2079G>A	c.(2077-2079)agG>agA	p.R693R	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	693	Laminin EGF-like 5; second part.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		GATACAAGAGGGAGATGCCAC	0.612000													23	67					0	0	0.00395357	0	0
PRG3	10394	broad.mit.edu	37	11	57145249	57145249	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr11:57145249G>A	ENST00000287143.2	-	5	677	c.568C>T	c.(568-570)Cca>Tca	p.P190S		NM_006093.3	NP_006084.2	Q9Y2Y8	PRG3_HUMAN	proteoglycan 3	190	C-type lectin.				basophil activation|histamine biosynthetic process|immune response|leukotriene biosynthetic process|negative regulation of translation|neutrophil activation|positive regulation of interleukin-8 biosynthetic process|superoxide anion generation		sugar binding			large_intestine(3)|lung(5)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	13						GGTTGCCCTGGGGACCAGTAA	0.557000													12	34					0	0	0.00136819	0	0
COL14A1	7373	broad.mit.edu	37	8	121267542	121267542	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr8:121267542G>A	ENST00000297848.3	+	23	3086	c.2816G>A	c.(2815-2817)tGg>tAg	p.W939*	COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000309791.4_Nonsense_Mutation_p.W939*|COL14A1_ENST00000247781.3_Nonsense_Mutation_p.W844*	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	939	Fibronectin type-III 8.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TGTGCCCACTGGCAGGTACAT	0.438000													36	96					0	0	0.00375469	0	0
OBSCN	84033	broad.mit.edu	37	1	228468382	228468382	+	Silent	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr1:228468382C>T	ENST00000570156.2	+	35	9443	c.9369C>T	c.(9367-9369)ttC>ttT	p.F3123F	OBSCN_ENST00000359599.6_Silent_p.F1541F|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Silent_p.F2694F|OBSCN_ENST00000422127.1_Silent_p.F2694F	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2124	Ig-like 31.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGTATGACTTCCTGCACACGG	0.682000													28	102					0	0	0.000720815	0	0
ZNF224	7767	broad.mit.edu	37	19	44611712	44611712	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr19:44611712C>T	ENST00000336976.6	+	6	1653	c.1399C>T	c.(1399-1401)Cgg>Tgg	p.R467W	AC084219.4_ENST00000592946.1_RNA	NM_013398.2	NP_037530.2	Q9NZL3	ZN224_HUMAN	zinc finger protein 224	467					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19		Prostate(69;0.0435)				GAGCTTTAGTCGGGCCCCATG	0.438000													19	62					0	0	0.00074312	0	0
FCGBP	8857	broad.mit.edu	37	19	40368526	40368526	+	Silent	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr19:40368526G>A	ENST00000221347.6	-	28	12829	c.12822C>T	c.(12820-12822)taC>taT	p.Y4274Y		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4274	VWFD 10.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CAGGGCCCTCGTACTGCTCCA	0.657000													6	80					0	0	0.00327116	0	0
MYO3B	140469	broad.mit.edu	37	2	171243784	171243784	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr2:171243784C>G	ENST00000334231.6	+	14	1570	c.1570C>G	c.(1570-1572)Ctc>Gtc	p.L524V	MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Missense_Mutation_p.L515V|MYO3B_ENST00000408978.4_Missense_Mutation_p.L515V			Q8WXR4	MYO3B_HUMAN	myosin IIIB	515	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						CTCTGAATATCTCCTGGAAAA	0.413000													24	57					0	0	0.00127121	0	0
LAMC2	3918	broad.mit.edu	37	1	183177126	183177126	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr1:183177126C>A	ENST00000264144.4	+	2	255	c.190C>A	c.(190-192)Cac>Aac	p.H64N	LAMC2_ENST00000493293.1_Missense_Mutation_p.H64N	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	64	Laminin EGF-like 1.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						TGATGGCATTCACTGCGAGAA	0.483000													100	254					4.70724e-39	1.899e-38	0.00361006	1	0
ADRB3	155	broad.mit.edu	37	8	37823854	37823854	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr8:37823854G>A	ENST00000345060.3	-	1	629	c.134C>T	c.(133-135)gCg>gTg	p.A45V		NM_000025.2	NP_000016.1	P13945	ADRB3_HUMAN	adrenoceptor beta 3	45					carbohydrate metabolic process|energy reserve metabolic process|positive regulation of MAPKKK cascade	integral to plasma membrane|receptor complex	beta3-adrenergic receptor activity|protein homodimerization activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)	9	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)		Norepinephrine(DB00368)|Pindolol(DB00960)|Propranolol(DB00571)	CACCGCCAGCGCCAGCAGGGC	0.697000													8	22					0	0	0.00307968	0	0
OR5L2	26338	broad.mit.edu	37	11	55594959	55594959	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr11:55594959G>A	ENST00000378397.1	+	1	265	c.265G>A	c.(265-267)Gac>Aac	p.D89N		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	89					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				CTTTAACAAGGACAAAGCCAT	0.473000										HNSCC(27;0.073)			53	68					0	0	0.00361006	0	0
CDH23	64072	broad.mit.edu	37	10	73537541	73537541	+	Silent	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr10:73537541C>T	ENST00000224721.6	+	38	4970	c.4965C>T	c.(4963-4965)ctC>ctT	p.L1655L		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1650	Cadherin 16.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CAGACACGCTCAACACCAGCC	0.582000													13	38					0	0	0.00136819	0	0
NDUFV3	4731	broad.mit.edu	37	21	44324169	44324169	+	Silent	SNP	G	G	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr21:44324169G>T	ENST00000354250.2	+	3	1116	c.1047G>T	c.(1045-1047)ctG>ctT	p.L349L	NDUFV3_ENST00000460259.1_3'UTR|NDUFV3_ENST00000340344.3_Intron	NM_021075.3	NP_066553.3	P56181	NDUV3_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa	54					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I|nucleus	NADH dehydrogenase (ubiquinone) activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	10				STAD - Stomach adenocarcinoma(101;0.0606)	NADH(DB00157)	CCCCTCCCCTGCCCAGAAAGG	0.617000													13	48					9.31168e-06	3.36044e-05	0.00185496	1	0
HFM1	164045	broad.mit.edu	37	1	91845680	91845680	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr1:91845680C>A	ENST00000370425.3	-	8	1085	c.987G>T	c.(985-987)ttG>ttT	p.L329F	HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000370424.3_Missense_Mutation_p.L8F	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	329	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TTTTAATATTCAACCATGGCA	0.284000													9	55					0.000274275	0.00097002	0.000274275	1	0
CSGALNACT1	55790	broad.mit.edu	37	8	19362961	19362961	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr8:19362961C>A	ENST00000454498.2	-	4	1398	c.385G>T	c.(385-387)Gac>Tac	p.D129Y	CSGALNACT1_ENST00000522854.1_Missense_Mutation_p.D129Y|CSGALNACT1_ENST00000332246.6_Missense_Mutation_p.D129Y|CSGALNACT1_ENST00000544602.1_Missense_Mutation_p.D129Y|CSGALNACT1_ENST00000311540.4_Missense_Mutation_p.D129Y	NM_001130518.1	NP_001123990.1	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 1	129					anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process	Golgi cisterna membrane|integral to Golgi membrane|soluble fraction	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				Colorectal(111;0.182)		TCTGCCTTGTCCACCTGCGAG	0.597000													25	73					3.65163e-15	1.41401e-14	0.00106085	1	0
RSPH4A	345895	broad.mit.edu	37	6	116938138	116938138	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr6:116938138C>T	ENST00000229554.5	+	1	489	c.352C>T	c.(352-354)Cct>Tct	p.P118S	RSPH4A_ENST00000368580.4_Missense_Mutation_p.P118S|RSPH4A_ENST00000368581.4_Missense_Mutation_p.P118S	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A (Chlamydomonas)	118					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke				breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						GAGTGTGATTCCTGAAGCTGG	0.537000									Kartagener syndrome				23	78					0	0	0.00278032	0	0
LARP6	55323	broad.mit.edu	37	15	71124454	71124454	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr15:71124454C>A	ENST00000299213.8	-	3	1483	c.1413G>T	c.(1411-1413)ttG>ttT	p.L471F		NM_018357.2	NP_060827.2	Q9BRS8	LARP6_HUMAN	La ribonucleoprotein domain family, member 6	471					RNA processing	Golgi apparatus|nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	19						GACCCCTGGGCAACCTCAGCA	0.547000													25	91					2.41591e-17	9.4586e-17	0.000720815	1	0
PDAP1	11333	broad.mit.edu	37	7	99001128	99001128	+	Splice_Site	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr7:99001128C>T	ENST00000350498.3	-	3	386	c.105_splice	c.e3-1	p.E36_splice		NM_014891.6	NP_055706.1	Q13442	HAP28_HUMAN	PDGFA associated protein 1	36					cell proliferation|signal transduction					breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2)|prostate(1)|skin(1)	9	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)		Becaplermin(DB00102)	TCCTCTTCTTCCTGTTTCAGA	0.453000													18	72					0	0	0.000958276	0	0
SCAND3	114821	broad.mit.edu	37	6	28540086	28540086	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr6:28540086G>A	ENST00000452236.2	-	4	4197	c.3580C>T	c.(3580-3582)Cca>Tca	p.P1194S		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	1194					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						tcttttgatggaaaataaaat	0.289000													4	20					0	0	0.00024832	0	0
MAP4K3	8491	broad.mit.edu	37	2	39494353	39494353	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr2:39494353T>C	ENST00000263881.3	-	27	2333	c.2009A>G	c.(2008-2010)aAa>aGa	p.K670R	MAP4K3_ENST00000536018.1_Missense_Mutation_p.K223R|MAP4K3_ENST00000341681.5_Missense_Mutation_p.K649R|MAP4K3_ENST00000437545.1_Missense_Mutation_p.K586R	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	670	CNH.				JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				CTGGCACCATTTGGTTTCAGG	0.368000													33	44					0	0	0.00428921	0	0
SLC8A3	6547	broad.mit.edu	37	14	70634140	70634140	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr14:70634140G>A	ENST00000381269.2	-	2	1753	c.1000C>T	c.(1000-1002)Cag>Tag	p.Q334*	SLC8A3_ENST00000534137.1_Nonsense_Mutation_p.Q334*|SLC8A3_ENST00000357887.3_Nonsense_Mutation_p.Q334*|SLC8A3_ENST00000528359.1_Nonsense_Mutation_p.Q334*|SLC8A3_ENST00000356921.2_Nonsense_Mutation_p.Q334*	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	334					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		TCCACCAGCTGATCTAAGTCC	0.522000													25	61					0	0	0.000878237	0	0
OR5M8	219484	broad.mit.edu	37	11	56258161	56258161	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr11:56258161G>C	ENST00000327216.2	-	1	710	c.686C>G	c.(685-687)tCt>tGt	p.S229C		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	229					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					GCCCTCTGTAGAGCGAATCTT	0.413000													8	47					0	0	0.00307968	0	0
PSME3	10197	broad.mit.edu	37	17	40986892	40986892	+	Splice_Site	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr17:40986892G>A	ENST00000293362.3	+	4	403	c.243_splice	c.e4+1	p.G81_splice	PSME3_ENST00000545225.1_Splice_Site_p.G20_splice|PSME3_ENST00000592169.1_Intron|PSME3_ENST00000541124.1_3'UTR|PSME3_ENST00000441946.2_Splice_Site_p.G92_splice|PSME3_ENST00000590720.1_Splice_Site_p.G81_splice	NM_005789.3|NM_176863.2	NP_005780.2|NP_789839.1	P61289	PSME3_HUMAN	proteasome (prosome, macropain) activator subunit 3 (PA28 gamma; Ki)	81					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of proteasomal protein catabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome activator complex	endopeptidase activator activity|identical protein binding|MDM2 binding|p53 binding			NS(1)|cervix(1)|large_intestine(3)|lung(1)	6		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		GGACTGGATGGTGTAAGTGTC	0.443000													14	50					0	0	0.00185496	0	0
CMC4	100272147	broad.mit.edu	37	X	154292277	154292277	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chrX:154292277G>A	ENST00000369484.3	-	2	700	c.22C>T	c.(22-24)Cag>Tag	p.Q8*	CMC4_ENST00000369479.1_Nonsense_Mutation_p.Q8*	NM_001018024.2	NP_001018024.1			C-x(9)-C motif containing 4																		GCTTGCTTCTGGCACGGATCC	0.328000													32	151					0	0	0.00375469	0	0
STUB1	10273	broad.mit.edu	37	16	732456	732456	+	Silent	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr16:732456C>T	ENST00000565677.1	+	7	1270	c.663C>T	c.(661-663)ttC>ttT	p.F221F	JMJD8_ENST00000454700.1_3'UTR|LA16c-313D11.11_ENST00000565813.1_RNA|STUB1_ENST00000219548.4_Silent_p.F293F|JMJD8_ENST00000293882.4_3'UTR|STUB1_ENST00000564370.1_Silent_p.F221F|JMJD8_ENST00000412368.2_3'UTR|LA16c-313D11.10_ENST00000567405.2_RNA			Q9UNE7	CHIP_HUMAN	STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase	293					cellular response to misfolded protein|DNA repair|misfolded or incompletely synthesized protein catabolic process|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein K63-linked ubiquitination|protein maturation|regulation of glucocorticoid metabolic process|ubiquitin-dependent SMAD protein catabolic process	cytoplasm|nuclear inclusion body|ubiquitin conjugating enzyme complex|ubiquitin ligase complex	Hsp70 protein binding|Hsp90 protein binding|kinase binding|misfolded protein binding|protein binding, bridging|protein homodimerization activity|SMAD binding|TPR domain binding|ubiquitin-ubiquitin ligase activity			endometrium(2)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	6		Hepatocellular(780;0.00335)				TTGACGCATTCATCTCTGAGA	0.607000													26	108					0	0	0.000720815	0	0
ALDH1A3	220	broad.mit.edu	37	15	101447334	101447334	+	Silent	SNP	G	G	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr15:101447334G>T	ENST00000329841.5	+	11	1774	c.1242G>T	c.(1240-1242)ggG>ggT	p.G414G	ALDH1A3_ENST00000346623.6_Silent_p.G307G|RP11-66B24.4_ENST00000560351.1_RNA	NM_000693.2	NP_000684.2	P47895	AL1A3_HUMAN	aldehyde dehydrogenase 1 family, member A3	414					retinal metabolic process	cytoplasm	aldehyde dehydrogenase|protein homodimerization activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		NADH(DB00157)|Vitamin A(DB00162)	AGATTTTCGGGCCAGTGCAAC	0.398000													10	42					0.000442599	0.00156013	0.000442599	1	0
CST1	1469	broad.mit.edu	37	20	23731395	23731395	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr20:23731395C>T	ENST00000304749.2	-	1	179	c.109G>A	c.(109-111)Gca>Aca	p.A37T	CST1_ENST00000398402.1_Missense_Mutation_p.A37T	NM_001898.2	NP_001889.2	P01037	CYTN_HUMAN	cystatin SN	37						extracellular region	cysteine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1)	13	Lung NSC(19;0.0676)|all_lung(19;0.148)					TTGAGGTCTGCGTTATAGATG	0.572000													10	50					0	0	0.00136819	0	0
PTPRC	5788	broad.mit.edu	37	1	198713291	198713291	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr1:198713291G>A	ENST00000367376.2	+	26	2971	c.2800G>A	c.(2800-2802)Gat>Aat	p.D934N	PTPRC_ENST00000348564.6_Missense_Mutation_p.D775N|PTPRC_ENST00000442510.2_Missense_Mutation_p.D936N|PTPRC_ENST00000352140.3_Missense_Mutation_p.D886N|PTPRC_ENST00000594404.1_Missense_Mutation_p.D773N	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	934					axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						GAAGAAAAGGGATCCACCCAG	0.373000													6	20					0	0	0.00307968	0	0
RAI1	10743	broad.mit.edu	37	17	17700989	17700989	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr17:17700989G>A	ENST00000353383.1	+	3	5196	c.4727G>A	c.(4726-4728)cGc>cAc	p.R1576H	RAI1_ENST00000261641.6_Missense_Mutation_p.R1576H	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1576						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		CCTGAAATCCGCCTCAAGTAC	0.637000													33	104					0	0	0.00209593	0	0
MXD3	83463	broad.mit.edu	37	5	176734658	176734658	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr5:176734658G>A	ENST00000423571.2	-	5	693	c.629C>T	c.(628-630)cCg>cTg	p.P210L	MXD3_ENST00000439742.2_Silent_p.A184A|MXD3_ENST00000427908.2_Intron|MXD3_ENST00000513063.1_Silent_p.A184A			Q9BW11	MAD3_HUMAN	MAX dimerization protein 3	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding					all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCAGCAGCTCGGCCTCACCCC	0.701000													18	59					0	0	0.000958276	0	0
KAT5	10524	broad.mit.edu	37	11	65484420	65484420	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr11:65484420C>T	ENST00000341318.4	+	10	1465	c.1231C>T	c.(1231-1233)Cgc>Tgc	p.R411C	KAT5_ENST00000534650.1_Missense_Mutation_p.R167C|KAT5_ENST00000530446.1_Missense_Mutation_p.R359C|KAT5_ENST00000352980.4_Missense_Mutation_p.R326C|KAT5_ENST00000377046.3_Missense_Mutation_p.R378C	NM_182710.2	NP_874369.1	Q92993	KAT5_HUMAN	K(lysine) acetyltransferase 5	378					androgen receptor signaling pathway|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|double-strand break repair|interspecies interaction between organisms|negative regulation of interleukin-2 production|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nucleolus|perinuclear region of cytoplasm|Piccolo NuA4 histone acetyltransferase complex	androgen receptor binding|histone acetyltransferase activity|metal ion binding|repressing transcription factor binding|transcription coactivator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)	21						TCCCTACCAGCGCCGGGGCTA	0.592000													28	85					0	0	0.000878237	0	0
AIFM3	150209	broad.mit.edu	37	22	21332000	21332000	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr22:21332000G>A	ENST00000399167.2	+	15	1534	c.1294G>A	c.(1294-1296)Gcc>Acc	p.A432T	AIFM3_ENST00000405089.1_Missense_Mutation_p.A438T|AIFM3_ENST00000440238.2_Missense_Mutation_p.A432T|AIFM3_ENST00000465606.1_3'UTR|AIFM3_ENST00000399163.2_Missense_Mutation_p.A432T|AIFM3_ENST00000335375.5_Missense_Mutation_p.A420T|AIFM3_ENST00000333607.6_Missense_Mutation_p.A432T	NM_144704.2	NP_653305.1			apoptosis-inducing factor, mitochondrion-associated, 3											breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			TGCAGTGCCCGCCACAGGCTT	0.617000													25	53					0	0	0.001512	0	0
EPHA3	2042	broad.mit.edu	37	3	89448639	89448639	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr3:89448639T>G	ENST00000452448.2	+	7	1690	c.1603T>G	c.(1603-1605)Tat>Gat	p.Y535D	EPHA3_ENST00000336596.2_Intron|EPHA3_ENST00000494014.1_Intron	NM_182644.2	NP_872585.1	P29320	EPHA3_HUMAN	EPH receptor A3	0						extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		CTGTATGTATTATTTCAATGC	0.408000										TSP Lung(6;0.00050)			9	21					0	0	0.000442599	0	0
LAMA4	3910	broad.mit.edu	37	6	112508752	112508752	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr6:112508752A>G	ENST00000230538.7	-	8	1263	c.866T>C	c.(865-867)cTc>cCc	p.L289P	LAMA4_ENST00000424408.2_Missense_Mutation_p.L282P|LAMA4_ENST00000389463.4_Missense_Mutation_p.L282P|LAMA4_ENST00000522006.1_Missense_Mutation_p.L282P	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	289	Domain II and I.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		CTCGATGGAGAGCGCTGCTAA	0.527000													10	33					0	0	0.00074312	0	0
ZBTB40	9923	broad.mit.edu	37	1	22816681	22816681	+	Silent	SNP	G	G	A	rs138737436		TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr1:22816681G>A	ENST00000404138.1	+	3	751	c.240G>A	c.(238-240)acG>acA	p.T80T	ZBTB40_ENST00000375647.4_Silent_p.T80T|ZBTB40_ENST00000374651.4_Silent_p.T80T	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	80	BTB.				bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		TGATGTACACGGGCAAACTAC	0.463000													9	60					0	0	0.000442599	0	0
ANKRD13A	88455	broad.mit.edu	37	12	110474131	110474131	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr12:110474131G>C	ENST00000261739.4	+	14	1741	c.1575G>C	c.(1573-1575)gaG>gaC	p.E525D	C12orf76_ENST00000546651.2_Intron	NM_033121.1	NP_149112.1	Q8IZ07	AN13A_HUMAN	ankyrin repeat domain 13A	525										endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(8)|lung(3)|urinary_tract(1)	16						CCCAGTATGAGAGGTGATTGA	0.517000													28	105					0	0	0.00127121	0	0
GPR37L1	9283	broad.mit.edu	37	1	202097163	202097163	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr1:202097163C>T	ENST00000367282.4	+	2	1031	c.925C>T	c.(925-927)Cgc>Tgc	p.R309C		NM_004767.3	NP_004758.3	O60883	ETBR2_HUMAN	G protein-coupled receptor 37 like 1	309						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	18						CCAGAACGCCCGCATGTGGTG	0.612000													25	64					0	0	0.00395357	0	0
SH2D4A	63898	broad.mit.edu	37	8	19231062	19231062	+	Silent	SNP	A	A	G			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr8:19231062A>G	ENST00000265807.3	+	8	1350	c.939A>G	c.(937-939)acA>acG	p.T313T	SH2D4A_ENST00000518040.1_Silent_p.T268T|SH2D4A_ENST00000519207.1_Silent_p.T313T	NM_001174160.1|NM_022071.3	NP_001167631.1|NP_071354.2	Q9H788	SH24A_HUMAN	SH2 domain containing 4A	313						cytoplasm|nucleus	protein binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|stomach(1)	16				Colorectal(111;0.0732)		TGGTGAGGACACTGTCCAGCT	0.408000													10	28					0	0	0.000442599	0	0
SPATA25	128497	broad.mit.edu	37	20	44515635	44515635	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr20:44515635G>A	ENST00000372519.3	-	2	249	c.205C>T	c.(205-207)Caa>Taa	p.Q69*		NM_080608.3	NP_542175.1	Q9BR10	CT165_HUMAN	spermatogenesis associated 25	69						integral to membrane											CCCCTGGCTTGTGGCATTGCC	0.637000													45	170					0	0	0.00285205	0	0
GPAM	57678	broad.mit.edu	37	10	113933472	113933472	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr10:113933472G>A	ENST00000348367.4	-	7	742	c.545C>T	c.(544-546)tCa>tTa	p.S182L	GPAM_ENST00000369425.1_Missense_Mutation_p.S182L|GPAM_ENST00000423155.1_Missense_Mutation_p.S182L			Q9HCL2	GPAT1_HUMAN	glycerol-3-phosphate acyltransferase, mitochondrial	182					phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		CATTGCCGGTGAGACAGTGGC	0.403000													19	47					0	0	0.00074312	0	0
MATN2	4147	broad.mit.edu	37	8	99039681	99039681	+	Silent	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr8:99039681C>T	ENST00000254898.5	+	14	2211	c.1980C>T	c.(1978-1980)atC>atT	p.I660I	RPL30_ENST00000518164.1_Intron|MATN2_ENST00000524308.1_Silent_p.I619I|MATN2_ENST00000522025.2_Silent_p.I376I|MATN2_ENST00000521689.1_Silent_p.I660I|MATN2_ENST00000520016.1_Silent_p.I660I	NM_002380.3|NM_030583.2	NP_002371.3|NP_085072.2	O00339	MATN2_HUMAN	matrilin 2	660	VWFA 2.					proteinaceous extracellular matrix	calcium ion binding	p.I660I(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			TCTTTGTGATCGATGGATCCA	0.403000													26	85					0	0	0.001512	0	0
SYNJ1	8867	broad.mit.edu	37	21	34011425	34011425	+	Silent	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr21:34011425G>A	ENST00000382499.2	-	31	3824	c.3825C>T	c.(3823-3825)ttC>ttT	p.F1275F	SYNJ1_ENST00000433931.2_Silent_p.F1275F|SYNJ1_ENST00000382491.3_Silent_p.F1189F|SYNJ1_ENST00000357345.3_Silent_p.F1220F|SYNJ1_ENST00000322229.7_Silent_p.F1236F	NM_203446.2	NP_982271.2	O43426	SYNJ1_HUMAN	synaptojanin 1	1236	Pro-rich.						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						GTTCAGGAAGGAAAGTTGAAC	0.453000													22	88					0	0	0.00188189	0	0
ZNF629	23361	broad.mit.edu	37	16	30793311	30793311	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr16:30793311G>A	ENST00000262525.4	-	3	2545	c.2338C>T	c.(2338-2340)Cgc>Tgc	p.R780C		NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	780					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			AGGGCCACGCGGTCGAGGAAG	0.647000													44	145					0	0	0.00361006	0	0
GUCY2F	2986	broad.mit.edu	37	X	108708626	108708626	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chrX:108708626C>G	ENST00000218006.2	-	3	1068	c.777G>C	c.(775-777)caG>caC	p.Q259H		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	259					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						AGAGATGCATCTGAGTCTCTC	0.413000													44	127					0	0	0.00361006	0	0
BTN2A2	10385	broad.mit.edu	37	6	26388333	26388333	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr6:26388333C>T	ENST00000356709.4	+	4	646	c.535C>T	c.(535-537)Ctc>Ttc	p.L179F	BTN2A2_ENST00000482536.1_Intron|BTN2A2_ENST00000469230.1_Missense_Mutation_p.L179F|BTN2A2_ENST00000432533.2_Intron|BTN2A2_ENST00000416795.2_Missense_Mutation_p.L179F|BTN2A2_ENST00000352867.2_Missense_Mutation_p.L63F	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2	179	Ig-like C2-type.				negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						CCCAGAGCCCCTCACAGTGTG	0.582000													16	60					0	0	0.00400662	0	0
NFKBIA	4792	broad.mit.edu	37	14	35872923	35872923	+	Silent	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr14:35872923G>A	ENST00000216797.5	-	2	410	c.309C>T	c.(307-309)ttC>ttT	p.F103F	NFKBIA_ENST00000557100.1_5'UTR|NFKBIA_ENST00000557389.1_Silent_p.F13F|NFKBIA_ENST00000557140.1_Silent_p.F103F	NM_020529.2	NP_065390.1	P25963	IKBA_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha	103					anti-apoptosis|apoptosis|cellular response to cold|cytoplasmic sequestering of NF-kappaB|innate immune response|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of DNA binding|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|I-kappaB/NF-kappaB complex|nucleus|plasma membrane	identical protein binding|NF-kappaB binding|nuclear localization sequence binding|ubiquitin protein ligase binding			breast(3)|endometrium(1)|large_intestine(2)|liver(1)	7	Breast(36;0.0484)|Hepatocellular(127;0.158)		Lung(238;9.25e-06)|LUAD - Lung adenocarcinoma(48;1.53e-05)|Epithelial(34;0.00314)|all cancers(34;0.00891)	GBM - Glioblastoma multiforme(112;0.0222)		GGAAGTTGAGGAAGGCCAGGT	0.582000													6	28					0	0	0.00116845	0	0
GPIHBP1	338328	broad.mit.edu	37	8	144297245	144297245	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr8:144297245G>A	ENST00000330824.2	+	4	482	c.407G>A	c.(406-408)tGc>tAc	p.C136Y		NM_178172.3	NP_835466.1	Q8IV16	HDBP1_HUMAN	glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1	136	UPAR/Ly6.				cholesterol homeostasis|intracellular protein transport|positive regulation of chylomicron remnant clearance|positive regulation of lipoprotein lipase activity|protein import|protein localization at cell surface|protein stabilization|response to heparin|triglyceride homeostasis	anchored to external side of plasma membrane|apical plasma membrane|basolateral plasma membrane|high-density lipoprotein particle|integral to membrane|intracellular	apolipoprotein binding|chylomicron binding|lipase binding|lipid binding|protein transmembrane transporter activity			lung(2)	2	all_cancers(97;6.49e-11)|all_epithelial(106;2.77e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					TCCAGCCTGTGCAATGTCCCA	0.672000													22	65					0	0	0.00332997	0	0
ZNF48	197407	broad.mit.edu	37	16	30409298	30409298	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr16:30409298C>T	ENST00000320159.2	+	2	1103	c.727C>T	c.(727-729)Cgg>Tgg	p.R243W		NM_001214906.1|NM_001214907.1|NM_001214909.1|NM_152652.2	NP_001201835.1|NP_001201836.1|NP_001201838.1|NP_689865.2	Q96MX3	ZNF48_HUMAN	zinc finger protein 48	243					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R243W(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1)	21						GCGGACACACCGGGGGGAGCA	0.647000													10	61					0	0	0.000978159	0	0
TLR6	10333	broad.mit.edu	37	4	38828928	38828928	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr4:38828928G>C	ENST00000436693.2	-	2	2286	c.2167C>G	c.(2167-2169)Ctc>Gtc	p.L723V	TLR6_ENST00000381950.1_Missense_Mutation_p.L723V	NM_006068.4	NP_006059.2	Q9Y2C9	TLR6_HUMAN	toll-like receptor 6	723	TIR.				activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCATGAAAGAGATTGTGATGG	0.423000													54	132					0	0	0.00361006	0	0
A2ML1	144568	broad.mit.edu	37	12	9021141	9021141	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr12:9021141G>A	ENST00000299698.7	+	32	4250	c.4070G>A	c.(4069-4071)gGg>gAg	p.G1357E	A2ML1_ENST00000539547.1_Missense_Mutation_p.G866E	NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	1201						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						AGTTATGTGGGGAGCCGTAGC	0.463000													40	97					0	0	0.00195071	0	0
SRPX	8406	broad.mit.edu	37	X	38009042	38009042	+	Silent	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chrX:38009042G>A	ENST00000378533.3	-	10	1423	c.1317C>T	c.(1315-1317)ttC>ttT	p.F439F	SRPX_ENST00000343800.6_Silent_p.F426F|SRPX_ENST00000479015.1_5'UTR|SRPX_ENST00000538295.1_3'UTR|SRPX_ENST00000432886.2_Silent_p.F380F|TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000544439.1_Silent_p.F419F	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN	sushi-repeat containing protein, X-linked	439					cell adhesion	cell surface|membrane				autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						CAATCAGGTTGAACAGGGCCA	0.498000													18	48					0	0	0.00074312	0	0
KIAA1199	57214	broad.mit.edu	37	15	81230170	81230170	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr15:81230170G>A	ENST00000394685.3	+	25	3676	c.3257G>A	c.(3256-3258)cGa>cAa	p.R1086Q	RP11-351M8.2_ENST00000560873.1_RNA|KIAA1199_ENST00000220244.3_Missense_Mutation_p.R1086Q|KIAA1199_ENST00000356249.5_Missense_Mutation_p.R1086Q			Q8WUJ3	K1199_HUMAN	KIAA1199	1086										breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TGCTACCCGCGAGGCACCACA	0.572000													37	91					0	0	0.00375469	0	0
GIGYF1	64599	broad.mit.edu	37	7	100280033	100280033	+	Silent	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr7:100280033C>T	ENST00000275732.5	-	21	3882	c.2673G>A	c.(2671-2673)ctG>ctA	p.L891L		NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	891										central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					TGCCCTGCAGCAGCTTCAGCA	0.637000													8	42					0	0	0.00307968	0	0
PRB3	5544	broad.mit.edu	37	12	11422583	11422583	+	RNA	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr12:11422583C>T	ENST00000381842.3	-	0	58				PRB3_ENST00000440870.3_RNA|PRB3_ENST00000279573.6_RNA|PRB3_ENST00000538488.1_RNA	NM_006249.4	NP_006240.4	Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3							extracellular region	Gram-negative bacterial cell surface binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			GCAGGGCCACCGACAGCAGAA	0.532000													18	69					0	0	0.000958276	0	0
CTH	1491	broad.mit.edu	37	1	70900825	70900825	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr1:70900825G>C	ENST00000411986.2	+	9	1119	c.921G>C	c.(919-921)gaG>gaC	p.E307D	CTH_ENST00000346806.2_Missense_Mutation_p.E295D|CTH_ENST00000370938.3_Missense_Mutation_p.E339D	NM_001190463.1	NP_001177392.1	P32929	CGL_HUMAN	cystathionase (cystathionine gamma-lyase)	339					cysteine biosynthetic process|hydrogen sulfide biosynthetic process|protein homotetramerization|protein-pyridoxal-5-phosphate linkage via peptidyl-N6-pyridoxal phosphate-L-lysine	cytoplasm|nucleus	cystathionine gamma-lyase activity|L-cysteine desulfhydrase activity|pyridoxal phosphate binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18					L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	CTCTGGCCGAGAGCTTGGGAG	0.323000													7	20					0	0	0.000274275	0	0
CUX1	1523	broad.mit.edu	37	7	101559408	101559408	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr7:101559408C>A	ENST00000360264.3	+	2	97	c.77C>A	c.(76-78)gCc>gAc	p.A26D	CUX1_ENST00000437600.4_Missense_Mutation_p.A26D|CUX1_ENST00000549414.2_Missense_Mutation_p.A15D|CUX1_ENST00000556210.1_Missense_Mutation_p.A15D|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000546411.2_Missense_Mutation_p.A15D|CUX1_ENST00000547394.2_Missense_Mutation_p.A26D|CUX1_ENST00000550008.2_Missense_Mutation_p.A15D|CUX1_ENST00000425244.2_Missense_Mutation_p.A26D|CUX1_ENST00000292538.4_Missense_Mutation_p.A26D|CUX1_ENST00000292535.7_Missense_Mutation_p.A15D	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	15					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GAACTCGATGCCACCGCAACG	0.498000													39	146					1.15183e-24	4.59434e-24	0.00222228	1	0
SLC17A9	63910	broad.mit.edu	37	20	61598820	61598820	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr20:61598820G>A	ENST00000370349.3	+	14	1465	c.1261G>A	c.(1261-1263)Gtg>Atg	p.V421M	SLC17A9_ENST00000488738.1_3'UTR|SLC17A9_ENST00000370351.4_Missense_Mutation_p.V427M			Q9BYT1	S17A9_HUMAN	solute carrier family 17 (vesicular nucleotide transporter), member 9	427					exocytosis|transmembrane transport	integral to membrane	transporter activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						GGCTCAGAGGGTGGACCTGAG	0.617000													33	117					0	0	0.00428921	0	0
ARHGAP39	80728	broad.mit.edu	37	8	145763114	145763114	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr8:145763114C>G	ENST00000377307.2	-	6	2689	c.2605G>C	c.(2605-2607)Gag>Cag	p.E869Q	ARHGAP39_ENST00000540274.1_Intron|ARHGAP39_ENST00000276826.5_Intron	NM_025251.1	NP_079527.1	Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	840	MyTH4.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						CCATCCGGCTCTTCAACATAA	0.552000													31	97					0	0	0.00283554	0	0
OR2L2	26246	broad.mit.edu	37	1	248201622	248201622	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr1:248201622C>A	ENST00000366479.2	+	1	149	c.53C>A	c.(52-54)cCa>cAa	p.P18Q	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	18					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			GGGCTGTTCCCACAATCAAGA	0.368000													43	135					1.38162e-09	5.17986e-09	0.00195071	1	0
NOVA2	4858	broad.mit.edu	37	19	46443312	46443312	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr19:46443312C>T	ENST00000263257.5	-	4	1482	c.1288G>A	c.(1288-1290)Gtg>Atg	p.V430M		NM_002516.2	NP_002507.1	Q9UNW9	NOVA2_HUMAN	neuro-oncological ventral antigen 2	430	KH 3.					nucleus	RNA binding			endometrium(3)|large_intestine(5)|lung(13)	21		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179)		TGGTACTCCACCAACGTCTTG	0.662000													43	124					0	0	0.00285205	0	0
SLC45A3	85414	broad.mit.edu	37	1	205631061	205631061	+	Silent	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr1:205631061G>A	ENST00000367145.3	-	4	1447	c.1152C>T	c.(1150-1152)ctC>ctT	p.L384L	SLC45A3_ENST00000460934.1_5'UTR	NM_033102.2	NP_149093.1	Q96JT2	S45A3_HUMAN	solute carrier family 45, member 3	384					transmembrane transport	integral to membrane			SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			TGAACCCGGTGAGGGCGGCTG	0.622000			T	"""ETV1, ETV5, ELK4, ERG"""	prostate								11	48					0	0	0.000978159	0	0
GNAT3	346562	broad.mit.edu	37	7	80141221	80141221	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr7:80141221C>T	ENST00000398291.3	-	1	115	c.22G>A	c.(22-24)Gag>Aag	p.E8K	CD36_ENST00000435819.1_Intron	NM_001102386.1	NP_001095856.1	A8MTJ3	GNAT3_HUMAN	guanine nucleotide binding protein, alpha transducing 3	8					detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction|sensory perception of sweet taste|sensory perception of umami taste	cytoplasm|heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	9						TCCTTGCTCTCTGAACTAATT	0.418000													9	18					0	0	0.000274275	0	0
PAMR1	25891	broad.mit.edu	37	11	35456112	35456112	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr11:35456112C>T	ENST00000378880.2	-	10	2019	c.1574G>A	c.(1573-1575)gGg>gAg	p.G525E	PAMR1_ENST00000532848.1_Missense_Mutation_p.G485E|PAMR1_ENST00000378878.3_Missense_Mutation_p.G414E|PAMR1_ENST00000278360.3_Missense_Mutation_p.G542E	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	525	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						GTAGAATTTCCCCAAAACAAC	0.537000													23	107					0	0	0.00332997	0	0
PACS2	23241	broad.mit.edu	37	14	105843172	105843172	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr14:105843172A>T	ENST00000447393.1	+	9	1044	c.869A>T	c.(868-870)tAt>tTt	p.Y290F	PACS2_ENST00000547217.1_Missense_Mutation_p.Y260F|PACS2_ENST00000430725.2_Missense_Mutation_p.Y215F|PACS2_ENST00000458164.2_Missense_Mutation_p.Y290F|PACS2_ENST00000325438.8_Missense_Mutation_p.Y290F	NM_015197.3	NP_056012.2	Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	290					apoptosis|interspecies interaction between organisms	endoplasmic reticulum lumen|mitochondrion				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		GACCTCCTGTATGACACCCTG	0.667000													23	38					0	0	0.00278032	0	0
LRRTM3	347731	broad.mit.edu	37	10	68687810	68687810	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr10:68687810C>A	ENST00000361320.4	+	2	1714	c.1136C>A	c.(1135-1137)aCg>aAg	p.T379K	CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000494580.1_Intron|CTNNA3_ENST00000433211.1_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	379						integral to membrane				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						CCAAAGCCGACGTTTAAGCCC	0.577000													17	58					1.99824e-07	7.41304e-07	0.000566183	1	0
AOC3	8639	broad.mit.edu	37	17	41006513	41006513	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr17:41006513C>A	ENST00000308423.2	+	2	1809	c.1649C>A	c.(1648-1650)gCt>gAt	p.A550D	AOC3_ENST00000591562.1_Missense_Mutation_p.A7D	NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	550					amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	GTCCCCATGGCTGTGCCCTGG	0.662000													17	48					8.00594e-06	2.89908e-05	0.000958276	1	0
TESPA1	9840	broad.mit.edu	37	12	55356756	55356756	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr12:55356756C>T	ENST00000524622.1	-	7	1173	c.512G>A	c.(511-513)aGg>aAg	p.R171K	TESPA1_ENST00000531122.1_Missense_Mutation_p.R171K|TESPA1_ENST00000449076.1_Missense_Mutation_p.R309K|TESPA1_ENST00000532804.1_Missense_Mutation_p.R171K|TESPA1_ENST00000316577.8_Missense_Mutation_p.R309K	NM_001261844.1|NM_014796.2	NP_001248773.1|NP_055611.1	A2RU30	K0748_HUMAN	thymocyte expressed, positive selection associated 1	309																	CAAACTGTTCCTTTTGGGGGT	0.532000													15	46					0	0	0.00316338	0	0
PACSIN1	29993	broad.mit.edu	37	6	34496436	34496436	+	Silent	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr6:34496436C>T	ENST00000538621.1	+	4	483	c.238C>T	c.(238-240)Ctg>Ttg	p.L80L	PACSIN1_ENST00000374043.2_Silent_p.L38L|PACSIN1_ENST00000486120.1_3'UTR|PACSIN1_ENST00000244458.2_Silent_p.L80L	NM_001199583.1	NP_001186512.1	Q9BY11	PACN1_HUMAN	protein kinase C and casein kinase substrate in neurons 1	80					endocytosis		protein kinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						GTATGGCAGCCTGGAGCGGGC	0.582000													37	131					0	0	0.00428921	0	0
EBNA1BP2	10969	broad.mit.edu	37	1	43630439	43630439	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr1:43630439C>A	ENST00000431635.2	-	9	1058	c.910G>T	c.(910-912)Ggt>Tgt	p.G304C	EBNA1BP2_ENST00000236051.2_Missense_Mutation_p.G249C	NM_001159936.1	NP_001153408.1	Q99848	EBP2_HUMAN	EBNA1 binding protein 2	249					ribosome biogenesis	membrane fraction|nucleolus	protein binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)	16	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CCACCAAAACCAAACTTCTGG	0.483000													19	60					1.15919e-05	4.15506e-05	0.00121646	1	0
SERPINA4	5267	broad.mit.edu	37	14	95035800	95035800	+	Silent	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr14:95035800G>A	ENST00000557004.1	+	5	1573	c.1152G>A	c.(1150-1152)gcG>gcA	p.A384A	SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000555095.1_Silent_p.A384A|SERPINA4_ENST00000298841.5_Silent_p.A384A			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	384					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		CCAGCTTCGCGATCAAATTCT	0.547000													24	52					0	0	0.00395357	0	0
RGAG4	340526	broad.mit.edu	37	X	71351044	71351044	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chrX:71351044C>T	ENST00000545866.1	-	1	714	c.347G>A	c.(346-348)gGg>gAg	p.G116E	RGAG4_ENST00000479991.1_Missense_Mutation_p.G116E|NHSL2_ENST00000540800.1_Intron			Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	116										cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					GTCAGCGGGCCCGTCGGGGGT	0.697000													6	12					0	0	0.00198382	0	0
HADHB	3032	broad.mit.edu	37	2	26500001	26500001	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr2:26500001A>G	ENST00000317799.5	+	7	519	c.415A>G	c.(415-417)Atc>Gtc	p.I139V	HADHB_ENST00000545822.1_Missense_Mutation_p.I117V|HADHB_ENST00000494615.1_3'UTR|HADHB_ENST00000405867.3_Missense_Mutation_p.I139V|HADHB_ENST00000537713.1_Missense_Mutation_p.I124V	NM_000183.2	NP_000174.1	P55084	ECHB_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit	139					fatty acid beta-oxidation	mitochondrial nucleoid	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acyltransferase activity|enoyl-CoA hydratase activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CATGGCTTGTATCTCTGCCAA	0.403000													14	19					0	0	0.00316338	0	0
SRD5A2	6716	broad.mit.edu	37	2	31805805	31805805	+	RNA	SNP	G	G	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr2:31805805G>T	ENST00000405650.1	-	0	331							P31213	S5A2_HUMAN	steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)						androgen biosynthetic process|cell differentiation|cell-cell signaling|male gonad development	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|sterol 5-alpha reductase activity					Acute lymphoblastic leukemia(172;0.155)				Azelaic Acid(DB00548)|Dutasteride(DB01126)	GGCAGCTCCTGCAGGAACCAG	0.706000													22	13					1.1804e-14	4.5213e-14	0.00395357	1	0
DPY19L2	283417	broad.mit.edu	37	12	63964555	63964555	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr12:63964555G>T	ENST00000324472.4	-	20	2166	c.1983C>A	c.(1981-1983)taC>taA	p.Y661*	DPY19L2_ENST00000413230.2_Nonsense_Mutation_p.Y108*	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	661					multicellular organismal development|spermatid development	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		CTGCATCTTCGTAATGTGGAT	0.418000													18	89					1.33834e-09	5.03537e-09	0.000958276	1	0
FSCB	84075	broad.mit.edu	37	14	44975031	44975031	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr14:44975031G>A	ENST00000340446.4	-	1	1451	c.1160C>T	c.(1159-1161)cCc>cTc	p.P387L		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	387	Pro-rich.					cilium		p.P387L(1)		breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		TTGTGCTGAGGGAGACCGAAT	0.527000													33	111					0	0	0.00375469	0	0
C1orf168	199920	broad.mit.edu	37	1	57209833	57209833	+	Silent	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr1:57209833C>T	ENST00000343433.6	-	10	1574	c.1494G>A	c.(1492-1494)agG>agA	p.R498R	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	498										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						ACACCTCTTTCCTGGAGTACT	0.408000													27	91					0	0	0.000720815	0	0
PROSC	11212	broad.mit.edu	37	8	37623261	37623261	+	Silent	SNP	C	C	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr8:37623261C>A	ENST00000328195.3	+	3	307	c.240C>A	c.(238-240)ccC>ccA	p.P80P		NM_007198.3	NP_009129.1	O94903	PROSC_HUMAN	proline synthetase co-transcribed homolog (bacterial)	80							pyridoxal phosphate binding	p.P80P(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		L-Proline(DB00172)|Pyridoxal Phosphate(DB00114)	CATCAAATCCCAAAGTAAGTA	0.383000													6	222					0.00116845	0.00410504	0.00116845	1	0
OSMR	9180	broad.mit.edu	37	5	38933124	38933124	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr5:38933124C>T	ENST00000274276.3	+	18	2920	c.2518C>T	c.(2518-2520)Ctc>Ttc	p.L840F		NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	840					cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					CTACCTTTATCTCCTTCCAAC	0.468000													37	137					0	0	0.000953801	0	0
GBP5	115362	broad.mit.edu	37	1	89729518	89729518	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr1:89729518C>A	ENST00000343435.5	-	9	1799	c.1263G>T	c.(1261-1263)aaG>aaT	p.K421N	RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000370459.3_Missense_Mutation_p.K421N|GBP5_ENST00000481145.1_5'UTR	NM_001134486.2|NM_052942.3	NP_001127958.1|NP_443174.1	Q96PP8	GBP5_HUMAN	guanylate binding protein 5	421						plasma membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		AAATTCCCTGCTTCACTGCTT	0.423000													54	150					1.86277e-20	7.34721e-20	0.00361006	1	0
AKT2	208	broad.mit.edu	37	19	40739814	40739814	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr19:40739814G>A	ENST00000392038.2	-	14	1709	c.1411C>T	c.(1411-1413)Ccc>Tcc	p.P471S	AKT2_ENST00000311278.6_Missense_Mutation_p.P428S|AKT2_ENST00000424901.1_Missense_Mutation_p.P471S	NM_001243027.1|NM_001243028.1|NM_001626.4	NP_001229956.1|NP_001229957.1|NP_001617.1	P31751	AKT2_HUMAN	v-akt murine thymoma viral oncogene homolog 2	471	AGC-kinase C-terminal.				insulin receptor signaling pathway|negative regulation of plasma membrane long-chain fatty acid transport|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1)	27			Lung(22;0.000499)			GAGAACTGGGGGAAGTGGGTC	0.642000			A		"""ovarian, pancreatic """								10	26					0	0	0.000673444	0	0
CLVS2	134829	broad.mit.edu	37	6	123332247	123332247	+	Silent	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr6:123332247C>T	ENST00000275162.4	+	3	1842	c.507C>T	c.(505-507)ttC>ttT	p.F169F	CLVS2_ENST00000368438.1_Silent_p.F23F	NM_001010852.2	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2	169	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						ACTTCACTTTCAAGCAAGCCT	0.413000													14	75					0	0	0.00316338	0	0
MLKL	197259	broad.mit.edu	37	16	74719469	74719469	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr16:74719469C>G	ENST00000308807.7	-	5	1198	c.735G>C	c.(733-735)caG>caC	p.Q245H	MLKL_ENST00000306247.7_Intron	NM_152649.2	NP_689862.1	Q8NB16	MLKL_HUMAN	mixed lineage kinase domain-like	245	Protein kinase.						ATP binding|protein binding|protein kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						TATTGAAAGTCTGCCTCACTA	0.398000													3	23					0	0	6.4e-05	0	0
MAOB	4129	broad.mit.edu	37	X	43652760	43652760	+	Silent	SNP	C	C	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chrX:43652760C>A	ENST00000378069.4	-	8	981	c.834G>T	c.(832-834)ctG>ctT	p.L278L	MAOB_ENST00000538942.1_Silent_p.L262L|MAOB_ENST00000536181.1_Silent_p.L262L	NM_000898.4	NP_000889.3	P27338	AOFB_HUMAN	monoamine oxidase B	278					xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	electron carrier activity|primary amine oxidase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(2)|skin(5)	21					Amantadine(DB00915)|Bupropion(DB01156)|Carbidopa(DB00190)|Citalopram(DB00215)|Dopamine(DB00988)|Entacapone(DB00494)|Furazolidone(DB00614)|Ginkgo biloba(DB01381)|Ibuprofen(DB01050)|Imipramine(DB00458)|Iproniazid(DB04818)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Maprotiline(DB00934)|Meclizine(DB00737)|Moclobemide(DB01171)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Rasagiline(DB01367)|Selegiline(DB01037)|Tranylcypromine(DB00752)	TCATCATTGGCAGAGGGGGAT	0.413000													24	63					1.42536e-11	5.42044e-11	0.000720815	1	0
NPHP1	4867	broad.mit.edu	37	2	110962526	110962526	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr2:110962526C>A	ENST00000316534.4	-	1	93	c.20G>T	c.(19-21)cGa>cTa	p.R7L	NPHP1_ENST00000417665.1_Missense_Mutation_p.R7L|NPHP1_ENST00000393272.3_Missense_Mutation_p.R7L|NPHP1_ENST00000355301.4_Missense_Mutation_p.R7L|NPHP1_ENST00000445609.2_Missense_Mutation_p.R7L|NPHP1_ENST00000418527.1_Missense_Mutation_p.R7L			O15259	NPHP1_HUMAN	nephronophthisis 1 (juvenile)	7					actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior	adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium	protein binding|structural molecule activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						GAGAGGATCTCGCTGTCGTCT	0.662000													5	48					2.7689e-08	1.03081e-07	0.00198382	1	0
PTK2B	2185	broad.mit.edu	37	8	27289833	27289833	+	Silent	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr8:27289833G>A	ENST00000397501.1	+	15	1750	c.942G>A	c.(940-942)gaG>gaA	p.E314E	PTK2B_ENST00000420218.2_Silent_p.E314E|PTK2B_ENST00000517339.1_Silent_p.E314E|PTK2B_ENST00000544172.1_Silent_p.E314E|PTK2B_ENST00000346049.5_Silent_p.E314E|PTK2B_ENST00000338238.4_Silent_p.E314E|PTK2B_ENST00000397497.4_Silent_p.E60E	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	314	FERM.				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		TCCCGCTGGAGGAGGGCCAGG	0.622000													7	28					0	0	0.00307968	0	0
HDAC4	9759	broad.mit.edu	37	2	240036972	240036972	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr2:240036972G>A	ENST00000345617.3	-	13	2344	c.1553C>T	c.(1552-1554)cCg>cTg	p.P518L	HDAC4_ENST00000543185.1_Missense_Mutation_p.P102L|HDAC4_ENST00000541256.1_Missense_Mutation_p.P492L	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	518					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			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)		GTGGCTCTCCGGCTGCCGGGC	0.652000													31	53					0	0	0.00327116	0	0
CNTNAP2	26047	broad.mit.edu	37	7	148112633	148112633	+	Silent	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr7:148112633G>A	ENST00000361727.3	+	24	4437	c.3921G>A	c.(3919-3921)gcG>gcA	p.A1307A	CNTNAP2_ENST00000463592.2_3'UTR|CNTNAP2_ENST00000538075.1_Silent_p.A366A	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	1307					behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CAGAGAGCGCGGACGCCGCCA	0.552000										HNSCC(39;0.1)			15	58					0	0	0.00244969	0	0
DOCK7	85440	broad.mit.edu	37	1	62960063	62960063	+	Silent	SNP	T	T	C			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr1:62960063T>C	ENST00000251157.5	-	40	5106	c.5073A>G	c.(5071-5073)gaA>gaG	p.E1691E	DOCK7_ENST00000340370.5_Silent_p.E1669E	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1700	DHR-2.				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						GATTGCTTCGTTCTGAGTGCT	0.478000													17	56					0	0	0.000958276	0	0
CHD6	84181	broad.mit.edu	37	20	40049688	40049688	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr20:40049688G>A	ENST00000373233.3	-	31	5764	c.5587C>T	c.(5587-5589)Cac>Tac	p.H1863Y		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1863					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				tcatcACTGTGGTTCTGACTC	0.428000													20	72					0	0	0.000958276	0	0
TET3	200424	broad.mit.edu	37	2	74328683	74328683	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr2:74328683G>A	ENST00000409262.3	+	9	4363	c.4363G>A	c.(4363-4365)Gag>Aag	p.E1455K		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	1455							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GGGATCCAGCGAGAAGCTGTT	0.652000													6	15					0	0	0.00116845	0	0
FAXDC2	10826	broad.mit.edu	37	5	154214195	154214195	+	Silent	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr5:154214195G>A	ENST00000326080.5	-	4	657	c.234C>T	c.(232-234)ctC>ctT	p.L78L	FAXDC2_ENST00000523997.1_5'UTR|FAXDC2_ENST00000520968.1_Silent_p.L78L|FAXDC2_ENST00000517938.1_Silent_p.L55L|FAXDC2_ENST00000518651.1_Silent_p.L55L	NM_032385.3	NP_115761.2			fatty acid hydroxylase domain containing 2																		CTATAAAGAAGAGGATCCACT	0.453000													13	40					0	0	0.00185496	0	0
GUSB	2990	broad.mit.edu	37	7	65439597	65439597	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr7:65439597G>A	ENST00000304895.4	-	7	1290	c.1160C>T	c.(1159-1161)cCc>cTc	p.P387L	GUSB_ENST00000421103.1_Missense_Mutation_p.P241L|GUSB_ENST00000345660.6_Missense_Mutation_p.P336L	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN	glucuronidase, beta	387					glycosaminoglycan catabolic process	lysosome	beta-glucuronidase activity|cation binding			breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						CTCTGCATAGGGGTAGTGGCT	0.597000													19	59					0	0	0.00152264	0	0
CPB2	1361	broad.mit.edu	37	13	46632457	46632457	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr13:46632457C>G	ENST00000181383.4	-	9	872	c.856G>C	c.(856-858)Gaa>Caa	p.E286Q	CPB2-AS1_ENST00000415033.2_RNA|CPB2-AS1_ENST00000606243.1_RNA|CPB2-AS1_ENST00000606351.1_RNA|CPB2_ENST00000439329.3_Missense_Mutation_p.E249Q|CPB2-AS1_ENST00000606991.1_RNA	NM_001872.3	NP_001863.3	Q96IY4	CBPB2_HUMAN	carboxypeptidase B2 (plasma)	286					blood coagulation|fibrinolysis|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)		ACTTCTGGTTCTGACTCAGGA	0.428000													16	91					0	0	0.000566183	0	0
DVL1	1855	broad.mit.edu	37	1	1273500	1273500	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr1:1273500G>A	ENST00000378888.5	-	14	1855	c.1571C>T	c.(1570-1572)cCg>cTg	p.P524L	DVL1_ENST00000378891.5_Missense_Mutation_p.P499L			O14640	DVL1_HUMAN	dishevelled segment polarity protein 1	524					canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway	cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome	frizzled binding|identical protein binding|protein kinase binding|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GTGGGGCAGCGGGGCCAGCGT	0.721000													7	16					0	0	0.00307968	0	0
ZFC3H1	196441	broad.mit.edu	37	12	72005625	72005625	+	Silent	SNP	C	C	G			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr12:72005625C>G	ENST00000378743.3	-	32	6028	c.5670G>C	c.(5668-5670)ctG>ctC	p.L1890L		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	1890					RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CTTGAAGTTTCAGAATCTGAA	0.363000													12	45					0	0	0.00400662	0	0
REV3L	5980	broad.mit.edu	37	6	111693797	111693797	+	Splice_Site	SNP	A	A	G			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr6:111693797A>G	ENST00000435970.1	-	15	6342		c.e15+1		REV3L_ENST00000358835.3_Splice_Site|REV3L_ENST00000368805.1_Splice_Site|REV3L_ENST00000368802.3_Splice_Site			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit						DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		ATAACTGATTACCTGGGCTTT	0.348000								DNA polymerases (catalytic subunits)					18	67					0	0	0.000566183	0	0
LIPI	149998	broad.mit.edu	37	21	15561401	15561401	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr21:15561401G>T	ENST00000344577.2	-	2	474	c.449C>A	c.(448-450)aCc>aAc	p.T150N	LIPI_ENST00000536861.1_Missense_Mutation_p.T129N	NM_198996.2	NP_945347.1	Q6XZB0	LIPI_HUMAN	lipase, member I	129					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		AACTTTTCTGGTGTTTTTAAC	0.328000													9	61					7.48243e-07	2.75655e-06	0.000442599	1	0
DEFA4	1669	broad.mit.edu	37	8	6794389	6794389	+	Silent	SNP	G	G	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr8:6794389G>T	ENST00000297435.2	-	2	157	c.33C>A	c.(31-33)ctC>ctA	p.L11L		NM_001925.1	NP_001916.1	P12838	DEF4_HUMAN	defensin, alpha 4, corticostatin	11					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	10				COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		GGGCTACCAAGAGAATAGCAG	0.602000													8	37					0.000157383	0.000558474	0.00307968	1	0
IRF1	3659	broad.mit.edu	37	5	131819732	131819732	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr5:131819732C>T	ENST00000245414.4	-	10	1147	c.889G>A	c.(889-891)Gat>Aat	p.D297N	IRF1_ENST00000405885.2_Missense_Mutation_p.D297N	NM_002198.2	NP_002189.1	P10914	IRF1_HUMAN	interferon regulatory factor 1	297					blood coagulation|cellular response to mechanical stimulus|interferon-gamma-mediated signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleoplasm				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.026)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)		TTCTTCAGATCTGTGAAGACA	0.582000													18	77					0	0	0.00152264	0	0
MYH4	4622	broad.mit.edu	37	17	10348460	10348460	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr17:10348460C>A	ENST00000255381.2	-	37	5409	c.5299G>T	c.(5299-5301)Gcc>Tcc	p.A1767S	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1767					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GCCATCATGGCAGCCTAGTTA	0.473000													53	159					3.4597e-24	1.37481e-23	0.00361006	1	0
IRF1	3659	broad.mit.edu	37	5	131820143	131820143	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr5:131820143C>T	ENST00000245414.4	-	9	1022	c.764G>A	c.(763-765)gGg>gAg	p.G255E	IRF1_ENST00000405885.2_Missense_Mutation_p.G255E	NM_002198.2	NP_002189.1	P10914	IRF1_HUMAN	interferon regulatory factor 1	255					blood coagulation|cellular response to mechanical stimulus|interferon-gamma-mediated signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleoplasm				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.026)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)		GAGTAGGTACCCCTTCCCATC	0.552000													22	141					0	0	0.00229938	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43777495	43777495	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr12:43777495G>A	ENST00000389420.3	-	31	4662	c.4663C>T	c.(4663-4665)Cga>Tga	p.R1555*		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1555	TSP type-1 13.					proteinaceous extracellular matrix	zinc ion binding	p.R1555*(1)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CACTCCATTCGTTGATGTGAA	0.343000													8	55					0	0	0.000274275	0	0
KIF21B	23046	broad.mit.edu	37	1	200954056	200954056	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr1:200954056C>T	ENST00000332129.2	-	27	4050	c.3734G>A	c.(3733-3735)cGg>cAg	p.R1245Q	KIF21B_ENST00000422435.2_Missense_Mutation_p.R1245Q|KIF21B_ENST00000360529.5_Missense_Mutation_p.R1245Q|KIF21B_ENST00000461742.2_Missense_Mutation_p.R1245Q	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	1245					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						ATTGCGGGGCCGAGTGGGAGG	0.627000													12	48					0	0	0.00244969	0	0
JPH3	57338	broad.mit.edu	37	16	87636924	87636924	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr16:87636924G>A	ENST00000284262.2	+	1	414	c.172G>A	c.(172-174)Ggc>Agc	p.G58S		NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	58	Gly-rich.				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		CTGGCCCAGCGGCAACACGTA	0.682000													9	27					0	0	0.000442599	0	0
TMC3	342125	broad.mit.edu	37	15	81648086	81648086	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr15:81648086C>G	ENST00000558726.1	-	9	1050	c.915G>C	c.(913-915)gaG>gaC	p.E305D	TMC3_ENST00000359440.5_Missense_Mutation_p.E305D|RP11-761I4.3_ENST00000559781.1_RNA|RP11-761I4.3_ENST00000560851.1_RNA			Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	305						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						TTTTCTTTTTCTCCTGTTCTT	0.284000													14	44					0	0	0.00074312	0	0
EDA	1896	broad.mit.edu	37	X	69253320	69253320	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chrX:69253320G>A	ENST00000374552.4	+	7	1108	c.866G>A	c.(865-867)cGc>cAc	p.R289H	EDA_ENST00000524573.1_Missense_Mutation_p.R286H|EDA_ENST00000374553.2_Missense_Mutation_p.R289H	NM_001399.4	NP_001390.1	Q92838	EDA_HUMAN	ectodysplasin A	289					cell differentiation|ectoderm development|immune response|positive regulation of NF-kappaB transcription factor activity|signal transduction	collagen|cytoskeleton|membrane fraction	tumor necrosis factor receptor binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|urinary_tract(1)	14						CTACATCCCCGCAGCGGGGAG	0.498000											OREG0019847	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	36	116					0	0	0.00283554	0	0
FADS2	9415	broad.mit.edu	37	11	61632693	61632693	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr11:61632693G>T	ENST00000278840.4	+	11	1857	c.1227G>T	c.(1225-1227)aaG>aaT	p.K409N	FADS2_ENST00000522056.1_Missense_Mutation_p.K378N|FADS2_ENST00000257261.6_Missense_Mutation_p.K387N	NM_004265.2	NP_004256.1	O95864	FADS2_HUMAN	fatty acid desaturase 2	409					electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	heme binding			breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20					Alpha-Linolenic Acid(DB00132)	TATGTGCCAAGCATGGCATTG	0.612000													18	55					4.75885e-15	1.83605e-14	0.000566183	1	0
HOXC11	3227	broad.mit.edu	37	12	54367367	54367367	+	Silent	SNP	C	C	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr12:54367367C>A	ENST00000546378.1	+	1	458	c.342C>A	c.(340-342)ctC>ctA	p.L114L	HOTAIR_ENST00000424518.1_RNA|HOXC11_ENST00000243082.4_Silent_p.L114L|HOTAIR_ENST00000455246.1_RNA			O43248	HXC11_HUMAN	homeobox C11	114					endoderm development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(1)	2						CCGAGATCCTCATGAAAAACG	0.637000			T	NUP98	AML								54	193					2.47907e-22	9.81451e-22	0.00361006	1	0
MIR31HG	554202	broad.mit.edu	37	9	21455940	21455940	+	RNA	SNP	C	C	G			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr9:21455940C>G	ENST00000304425.3	-	0	445					NR_027054.1																						GAATCCATCTCTACCTGAAAG	0.473000													6	4					0	0	0.00116845	0	0
CATSPER2	117155	broad.mit.edu	37	15	43927989	43927989	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr15:43927989C>T	ENST00000396879.1	-	10	1169	c.1057G>A	c.(1057-1059)Gag>Aag	p.E353K	CATSPER2_ENST00000381761.1_Missense_Mutation_p.E359K|CATSPER2_ENST00000321596.5_Missense_Mutation_p.E353K|CATSPER2_ENST00000354127.4_Missense_Mutation_p.E353K|STRC_ENST00000541030.1_Intron|CATSPER2_ENST00000355438.2_Missense_Mutation_p.E353K			Q96P56	CTSR2_HUMAN	cation channel, sperm associated 2	353					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|protein binding|voltage-gated ion channel activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		GCCATCTCCTCATTCAGCTCT	0.502000													16	43					0	0	0.00400662	0	0
TRBV10-2	28584	broad.mit.edu	37	7	142206550	142206550	+	RNA	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr7:142206550C>T	ENST00000426318.2	-	0	355																											TGTCTGGGAGCGGGTAGCTGA	0.522000													23	70					0	0	0.000878237	0	0
EMILIN2	84034	broad.mit.edu	37	18	2891362	2891362	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr18:2891362G>A	ENST00000254528.3	+	4	1396	c.1237G>A	c.(1237-1239)Gac>Aac	p.D413N		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	413					cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		CAAGACATTGGACCAGAAAAT	0.473000													9	45					0	0	0.000274275	0	0
JMJD8	339123	broad.mit.edu	37	16	733066	733066	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr16:733066C>T	ENST00000293882.4	-	8	810	c.811G>A	c.(811-813)Gag>Aag	p.E271K	JMJD8_ENST00000454700.1_Missense_Mutation_p.E241K|JMJD8_ENST00000562824.1_Missense_Mutation_p.E171K|JMJD8_ENST00000562111.1_Intron|JMJD8_ENST00000412368.2_Missense_Mutation_p.E222K			Q96S16	JMJD8_HUMAN	jumonji domain containing 8	271	JmjC.									breast(1)	1						GGCGTCTTCTCAGGTGGGTAA	0.637000													28	89					0	0	0.00178596	0	0
NFATC4	4776	broad.mit.edu	37	14	24845916	24845916	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr14:24845916C>T	ENST00000413692.2	+	10	2806	c.2662C>T	c.(2662-2664)Ccc>Tcc	p.P888S	NFATC4_ENST00000553708.1_Missense_Mutation_p.P825S|NFATC4_ENST00000554344.1_Missense_Mutation_p.P755S|NFATC4_ENST00000556759.1_Missense_Mutation_p.P360S|NFATC4_ENST00000556279.1_Missense_Mutation_p.P857S|NFATC4_ENST00000555590.1_Missense_Mutation_p.P838S|NFATC4_ENST00000539237.2_Missense_Mutation_p.P857S|NFATC4_ENST00000250373.4_Missense_Mutation_p.P825S|NFATC4_ENST00000424781.2_Missense_Mutation_p.P838S|NFATC4_ENST00000422617.3_Missense_Mutation_p.P813S|NFATC4_ENST00000555453.1_Missense_Mutation_p.P813S|NFATC4_ENST00000553469.1_Intron|NFATC4_ENST00000555393.1_Missense_Mutation_p.P113S|NFATC4_ENST00000553879.1_Missense_Mutation_p.P755S|NFATC4_ENST00000555167.1_Missense_Mutation_p.P360S|NFATC4_ENST00000556169.1_Intron|NFATC4_ENST00000554966.1_Intron|NFATC4_ENST00000554050.1_Intron|NFATC4_ENST00000555802.1_Missense_Mutation_p.P113S|NFATC4_ENST00000554591.1_Intron|NFATC4_ENST00000554661.1_Intron|NFATC4_ENST00000557767.1_Intron|NFATC4_ENST00000554473.1_Intron|NFATC4_ENST00000557451.1_Missense_Mutation_p.P755S	NM_001136022.1|NM_001198967.1	NP_001129494.1|NP_001185896.1	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	825					cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		GCTTGAAGGCCCCTTCCCTTC	0.642000													40	181					0	0	0.00195071	0	0
CD209	30835	broad.mit.edu	37	19	7809868	7809868	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr19:7809868C>T	ENST00000315599.7	-	5	881	c.859G>A	c.(859-861)Gtg>Atg	p.V287M	CD209_ENST00000601951.1_Missense_Mutation_p.V263M|CD209_ENST00000601256.1_Missense_Mutation_p.V263M|CD209_ENST00000301357.8_Missense_Mutation_p.V151M|CD209_ENST00000394173.4_Missense_Mutation_p.V126M|CD209_ENST00000204801.8_Missense_Mutation_p.V243M|CD209_ENST00000602261.1_Missense_Mutation_p.V195M|CD209_ENST00000315591.8_Missense_Mutation_p.V263M|CD209_ENST00000593821.1_Missense_Mutation_p.V151M|CD209_ENST00000593660.1_Missense_Mutation_p.V217M|CD209_ENST00000354397.6_Missense_Mutation_p.V287M|CD209_ENST00000394161.5_Intron	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	287	C-type lectin.				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TGGGCCCCCACTTCTTTGCAG	0.587000													17	80					0	0	0.000566183	0	0
TGFBR2	7048	broad.mit.edu	37	3	30713559	30713559	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr3:30713559C>G	ENST00000295754.5	+	4	1266	c.884C>G	c.(883-885)tCa>tGa	p.S295*	TGFBR2_ENST00000359013.4_Nonsense_Mutation_p.S320*	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	295	Protein kinase.				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding	p.S295*(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						GACATCTTCTCAGACATCAAT	0.493000													24	55					0	0	0.000878237	0	0
GPR25	2848	broad.mit.edu	37	1	200842300	200842300	+	Silent	SNP	C	C	G			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr1:200842300C>G	ENST00000304244.2	+	1	218	c.135C>G	c.(133-135)ctC>ctG	p.L45L		NM_005298.2	NP_005289.2	O00155	GPR25_HUMAN	G protein-coupled receptor 25	45						integral to plasma membrane				large_intestine(1)|lung(2)|ovary(1)|skin(1)	5						TCCCCGCGCTCTACCTGGCGG	0.721000													5	18					0	0	0.00116845	0	0
KIF17	57576	broad.mit.edu	37	1	21031314	21031314	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr1:21031314G>A	ENST00000247986.2	-	5	1059	c.749C>T	c.(748-750)aCc>aTc	p.T250I	KIF17_ENST00000400463.3_Missense_Mutation_p.T250I|KIF17_ENST00000375044.1_Missense_Mutation_p.T150I			Q9P2E2	KIF17_HUMAN	kinesin family member 17	250	Kinesin-motor.				microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		CGTGGCCCCGGTCTTGGACTG	0.667000													11	78					0	0	0.00136819	0	0
GSAP	54103	broad.mit.edu	37	7	76950665	76950665	+	Missense_Mutation	SNP	G	G	A	rs6950836		TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr7:76950665G>A	ENST00000257626.7	-	25	2057	c.1979C>T	c.(1978-1980)tCc>tTc	p.S660F	GSAP_ENST00000440473.1_5'UTR|GSAP_ENST00000441833.2_Intron	NM_017439.3	NP_059135.2			gamma-secretase activating protein																		GAGAACCCAGGAATGAAGATT	0.423000													5	21					0	0	0.00116845	0	0
CRB2	286204	broad.mit.edu	37	9	126136903	126136903	+	Silent	SNP	C	C	T	rs148933240	byFrequency	TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr9:126136903C>T	ENST00000373631.3	+	11	3436	c.3435C>T	c.(3433-3435)ctC>ctT	p.L1145L	CRB2_ENST00000373629.2_Silent_p.L813L	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 (Drosophila)	1145	EGF-like 14.					extracellular region|integral to membrane|plasma membrane	calcium ion binding	p.L1145L(1)		NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						TCACCTGCCTCGATGGCAGCC	0.657000													20	28					0	0	0.00121646	0	0
ABHD17B	51104	broad.mit.edu	37	9	74489807	74489807	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr9:74489807C>A	ENST00000333421.6	-	2	301	c.190G>T	c.(190-192)Gat>Tat	p.D64Y	ABHD17B_ENST00000377041.2_Missense_Mutation_p.D64Y	NM_001025780.1	NP_001020951.1			abhydrolase domain containing 17B																		TCAATAGCATCTTTTTCTCTA	0.413000													7	70					5.18039e-06	1.8888e-05	0.00307968	1	0
C11orf87	399947	broad.mit.edu	37	11	109294892	109294892	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr11:109294892C>A	ENST00000327419.6	+	2	936	c.533C>A	c.(532-534)gCa>gAa	p.A178E	RP11-708B6.2_ENST00000532992.1_RNA|RP11-708B6.2_ENST00000532929.1_RNA	NM_207645.3	NP_997528.2	Q6NUJ2	CK087_HUMAN	chromosome 11 open reading frame 87	178						integral to membrane				breast(2)|endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17						GGAGCACACGCAGCTTCCTCC	0.637000													21	34					4.35082e-09	1.62543e-08	0.00152264	1	0
ZNF211	10520	broad.mit.edu	37	19	58152875	58152875	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr19:58152875T>C	ENST00000544273.1	+	5	1384	c.1057T>C	c.(1057-1059)Tat>Cat	p.Y353H	ZNF211_ENST00000420680.1_Missense_Mutation_p.Y345H|ZNF211_ENST00000391703.3_Missense_Mutation_p.Y280H|ZNF211_ENST00000347302.3_Missense_Mutation_p.Y341H|ZNF211_ENST00000299871.5_Missense_Mutation_p.Y406H|ZNF211_ENST00000240731.4_Missense_Mutation_p.Y354H|ZNF211_ENST00000541801.1_Missense_Mutation_p.Y332H|ZNF211_ENST00000254182.7_Missense_Mutation_p.Y332H			Q13398	ZN211_HUMAN	zinc finger protein 211	341						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AGAAAGGCCTTATGAATGTGG	0.463000													17	56					0	0	0.000566183	0	0
TMEM159	57146	broad.mit.edu	37	16	21181823	21181823	+	Silent	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr16:21181823C>T	ENST00000233047.4	+	3	630	c.162C>T	c.(160-162)acC>acT	p.T54T	TMEM159_ENST00000572599.1_Silent_p.T54T|TMEM159_ENST00000574092.1_3'UTR|TMEM159_ENST00000261388.3_Silent_p.T54T|TMEM159_ENST00000451578.2_Silent_p.T78T|TMEM159_ENST00000572258.1_Silent_p.T54T			Q96B96	TM159_HUMAN	transmembrane protein 159	54						integral to membrane				large_intestine(3)|lung(2)|ovary(1)	6				GBM - Glioblastoma multiforme(48;0.0972)		TGGCCTTCACCTTGCTGGTGT	0.522000													38	124					0	0	0.00170553	0	0
SLF2	55719	broad.mit.edu	37	10	102676401	102676401	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr10:102676401G>C	ENST00000238961.3	+	3	407	c.259G>C	c.(259-261)Gag>Cag	p.E87Q	FAM178A_ENST00000370271.3_Missense_Mutation_p.E87Q|FAM178A_ENST00000370269.3_Missense_Mutation_p.E87Q	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	87																	CACTGGGACAGAGCAGTTTGA	0.373000													10	26					0	0	0.000673444	0	0
PKHD1	5314	broad.mit.edu	37	6	51921548	51921548	+	Silent	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr6:51921548G>A	ENST00000371117.3	-	18	1916	c.1641C>T	c.(1639-1641)tgC>tgT	p.C547C	PKHD1_ENST00000340994.4_Silent_p.C547C	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	547					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GTTCCAGTTTGCATTTTACTG	0.413000													24	82					0	0	0.00332997	0	0
ULK1	8408	broad.mit.edu	37	12	132401500	132401500	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr12:132401500C>T	ENST00000321867.4	+	21	2426	c.2075C>T	c.(2074-2076)tCt>tTt	p.S692F		NM_003565.2	NP_003556.1	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	692					autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		TCCCACAGGTCTTTCAGCACC	0.657000													5	44					0	0	0.000602214	0	0
TRIML1	339976	broad.mit.edu	37	4	189068147	189068147	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr4:189068147G>T	ENST00000332517.3	+	6	1168	c.1028G>T	c.(1027-1029)tGg>tTg	p.W343L	TRIML1_ENST00000507581.1_3'UTR	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	343	B30.2/SPRY.				multicellular organismal development		ligase activity|zinc ion binding			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)		AGACACTACTGGGAGGTGGAG	0.567000													14	85					0.000151284	0.000538634	0.00185496	1	0
TOX3	27324	broad.mit.edu	37	16	52484290	52484290	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr16:52484290C>T	ENST00000219746.9	-	4	861	c.577G>A	c.(577-579)Gcc>Acc	p.A193T	TOX3_ENST00000407228.3_Missense_Mutation_p.A188T	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN	TOX high mobility group box family member 3	193					apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity			NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						GGCATACTGGCACCTCCCAAA	0.567000													36	122					0	0	0.000953801	0	0
AKT1S1	84335	broad.mit.edu	37	19	50374957	50374957	+	Silent	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr19:50374957C>T	ENST00000391833.1	-	3	2463	c.474G>A	c.(472-474)gaG>gaA	p.E158E	AKT1S1_ENST00000391835.1_Silent_p.E178E|AKT1S1_ENST00000391831.1_Silent_p.E158E|AKT1S1_ENST00000391832.3_Silent_p.E158E|AKT1S1_ENST00000391834.2_Silent_p.E158E|AKT1S1_ENST00000344175.5_Silent_p.E158E	NM_001278160.1	NP_001265089.1	Q96B36	AKTS1_HUMAN	AKT1 substrate 1 (proline-rich)	158					negative regulation of cell size|negative regulation of protein kinase activity|negative regulation of TOR signaling cascade|nerve growth factor receptor signaling pathway|neuroprotection|phosphatidylinositol-mediated signaling|regulation of survival gene product expression	cytosolic part	protein binding			kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		CGGGGGTCTCCTCGCTCAGGC	0.667000													26	72					0	0	0.00395357	0	0
ADGRG6	57211	broad.mit.edu	37	6	142764560	142764560	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr6:142764560G>C	ENST00000367609.3	+	25	4062	c.3661G>C	c.(3661-3663)Gat>Cat	p.D1221H	GPR126_ENST00000230173.6_3'UTR|GPR126_ENST00000296932.8_3'UTR|GPR126_ENST00000367608.2_Missense_Mutation_p.D1193H	NM_198569.2	NP_940971.1	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	0					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		TCAGGTCATTGATAAGGTCAA	0.398000													52	168					0	0	0.00361006	0	0
PDZD2	23037	broad.mit.edu	37	5	32088220	32088220	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr5:32088220G>A	ENST00000438447.1	+	20	5054	c.4666G>A	c.(4666-4668)Gag>Aag	p.E1556K	PDZD2_ENST00000282493.3_Missense_Mutation_p.E1556K			O15018	PDZD2_HUMAN	PDZ domain containing 2	1556					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						TGGCGATGCTGAGGATTCTTC	0.542000													28	64					0	0	0.001512	0	0
ITGB1	3688	broad.mit.edu	37	10	33199181	33199181	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr10:33199181C>T	ENST00000396033.2	-	14	2269	c.2134G>A	c.(2134-2136)Gag>Aag	p.E712K	ITGB1_ENST00000302278.3_Missense_Mutation_p.E712K|ITGB1_ENST00000423113.1_Missense_Mutation_p.E712K|ITGB1_ENST00000374956.4_Missense_Mutation_p.E712K	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	712					axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)				ACCATGACCTCGTTGTTCCCA	0.423000													4	30					0	0	0.000602214	0	0
MMP17	4326	broad.mit.edu	37	12	132326314	132326314	+	Silent	SNP	C	C	T	rs73162905	byFrequency	TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr12:132326314C>T	ENST00000360564.1	+	5	954	c.852C>T	c.(850-852)taC>taT	p.Y284Y	MMP17_ENST00000535182.1_3'UTR|MMP17_ENST00000535291.1_Silent_p.Y200Y	NM_016155.4	NP_057239.4	Q9ULZ9	MMP17_HUMAN	matrix metallopeptidase 17 (membrane-inserted)	284					proteolysis	anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			endometrium(1)|large_intestine(3)|lung(1)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)		GGCTCCCCTACGAGGACAAGG	0.662000													8	14					0	0	0.00307968	0	0
CNBD2	140894	broad.mit.edu	37	20	34596243	34596243	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr20:34596243A>G	ENST00000373973.3	+	9	1168	c.995A>G	c.(994-996)aAg>aGg	p.K332R	CNBD2_ENST00000538900.1_Missense_Mutation_p.K332R|CNBD2_ENST00000349339.1_Missense_Mutation_p.K332R					cyclic nucleotide binding domain containing 2																		GAAAGATTTAAGGAATTCCAG	0.408000													37	110					0	0	0.000953801	0	0
LRRC4	64101	broad.mit.edu	37	7	127670131	127670131	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr7:127670131G>C	ENST00000249363.3	-	2	820	c.563C>G	c.(562-564)tCt>tGt	p.S188C	SND1_ENST00000354725.3_Intron	NM_022143.4	NP_071426.1	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4	188						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26				Lung(243;0.124)		AGCTCCCTCAGAGATATACTC	0.557000													14	57					0	0	0.00185496	0	0
SHANK1	50944	broad.mit.edu	37	19	51192464	51192464	+	Silent	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr19:51192464C>T	ENST00000293441.1	-	15	2055	c.2037G>A	c.(2035-2037)cgG>cgA	p.R679R	SHANK1_ENST00000391814.1_Silent_p.R679R|SHANK1_ENST00000391813.1_Silent_p.R66R|SHANK1_ENST00000359082.3_Silent_p.R670R	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	679	PDZ.				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CCTTGGCCCCCCGGAGCACGA	0.612000													11	94					0	0	0.00185496	0	0
NOL10	79954	broad.mit.edu	37	2	10729194	10729194	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr2:10729194A>T	ENST00000345985.3	-	18	1779	c.1669T>A	c.(1669-1671)Tct>Act	p.S557T	NOL10_ENST00000538384.1_Missense_Mutation_p.S581T|NOL10_ENST00000542668.1_Missense_Mutation_p.S557T|NOL10_ENST00000381685.5_Missense_Mutation_p.S607T	NM_001261394.1	NP_001248323.1	Q9BSC4	NOL10_HUMAN	nucleolar protein 10	607						nucleolus						Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.207)		TTTGTGGCAGAATCTTTGAAG	0.478000													65	80					0	0	0.00361006	0	0
BET1L	51272	broad.mit.edu	37	11	205338	205338	+	Silent	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr11:205338G>A	ENST00000382762.3	-	4	406	c.300C>T	c.(298-300)ttC>ttT	p.F100F	BET1L_ENST00000486280.1_Silent_p.F77F|BET1L_ENST00000332865.6_3'UTR|BET1L_ENST00000325147.9_3'UTR|BET1L_ENST00000529614.2_Silent_p.F81F|BET1L_ENST00000410108.1_Intron|RP11-304M2.5_ENST00000526963.1_RNA	NM_001098787.1|NM_016526.4	NP_001092257.1|NP_057610.2	Q9NYM9	BET1L_HUMAN	Bet1 golgi vesicular membrane trafficking protein-like	100					protein transport|retrograde transport, endosome to Golgi	endosome|SNARE complex	SNAP receptor activity						all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;4.2e-27)|Epithelial(43;2.8e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.7e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		AGGAGAGGATGAAGAAGGCCA	0.567000													9	28					0	0	0.000442599	0	0
SALL1	6299	broad.mit.edu	37	16	51171359	51171359	+	Silent	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr16:51171359G>A	ENST00000440970.1	-	3	3779	c.3348C>T	c.(3346-3348)ttC>ttT	p.F1116F	SALL1_ENST00000566102.1_3'UTR|SALL1_ENST00000541611.1_Silent_p.F36F|SALL1_ENST00000251020.4_Silent_p.F1213F	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	1213					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			ACATTTCTGGGAACTTGACGG	0.567000													13	48					0	0	0.00136819	0	0
KIF25	3834	broad.mit.edu	37	6	168434601	168434601	+	Silent	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr6:168434601C>T	ENST00000443060.2	+	5	598	c.207C>T	c.(205-207)agC>agT	p.S69S	KIF25_ENST00000354419.2_Silent_p.S69S|KIF25_ENST00000351261.3_Silent_p.S69S			Q9UIL4	KIF25_HUMAN	kinesin family member 25	69	Kinesin-motor.				microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		AGACGGGCAGCGGAAAGAGCT	0.517000													15	62					0	0	0.00316338	0	0
CELSR2	1952	broad.mit.edu	37	1	109812163	109812163	+	Silent	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr1:109812163G>A	ENST00000271332.3	+	21	6991	c.6930G>A	c.(6928-6930)gaG>gaA	p.E2310E		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2310					dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GCCTGCTGGAGACAGAGGAGC	0.607000													16	73					0	0	0.00400662	0	0
NHS	4810	broad.mit.edu	37	X	17744773	17744773	+	Silent	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chrX:17744773G>A	ENST00000380060.3	+	6	2822	c.2484G>A	c.(2482-2484)ccG>ccA	p.P828P	NHS_ENST00000398097.3_Silent_p.P672P	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	828						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					AGGCAAAGCCGACCCCACCTA	0.502000													29	141					0	0	0.00127121	0	0
STK33	65975	broad.mit.edu	37	11	8478907	8478907	+	Silent	SNP	T	T	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr11:8478907T>A	ENST00000447869.1	-	5	1596	c.678A>T	c.(676-678)atA>atT	p.I226I	STK33_ENST00000396673.1_Silent_p.I226I|STK33_ENST00000396672.1_Silent_p.I226I|STK33_ENST00000358872.3_Silent_p.I39I|STK33_ENST00000315204.1_Silent_p.I226I|STK33_ENST00000534493.1_Silent_p.I185I			Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	226	Protein kinase.					Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		GAAGATATGCTATAGCTGATG	0.388000													12	39					0	0	0.00136819	0	0
XAF1	54739	broad.mit.edu	37	17	6665481	6665481	+	Silent	SNP	A	A	G			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr17:6665481A>G	ENST00000361842.3	+	5	668	c.429A>G	c.(427-429)agA>agG	p.R143R	XAF1_ENST00000346752.4_Silent_p.R124R|XAF1_ENST00000441631.1_Silent_p.R143R	NM_017523.3	NP_059993.2	Q6GPH4	XAF1_HUMAN	XIAP associated factor 1	143					apoptosis|type I interferon-mediated signaling pathway	mitochondrion|nucleus	zinc ion binding			large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	6						CAGGGGAAAGAATTTCAGCTC	0.413000													9	21					0	0	0.000274275	0	0
RAVER1	125950	broad.mit.edu	37	19	10444126	10444126	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr19:10444126C>T	ENST00000293677.6	-	1	190	c.109G>A	c.(109-111)Gaa>Aaa	p.E37K		NM_133452.2	NP_597709.2	Q8IY67	RAVR1_HUMAN	ribonucleoprotein, PTB-binding 1	20						cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding			breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			GCTTCGACTTCGGCCCCAGAC	0.692000													26	50					0	0	0.00395357	0	0
GABRA4	2557	broad.mit.edu	37	4	46930480	46930480	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr4:46930480C>T	ENST00000264318.3	-	9	2409	c.1427G>A	c.(1426-1428)cGt>cAt	p.R476H		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	476					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	AAACACGTGACGAGTAGAAGC	0.483000													25	84					0	0	0.00278032	0	0
COL13A1	1305	broad.mit.edu	37	10	71631932	71631932	+	Splice_Site	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr10:71631932C>T	ENST00000356340.3	+	3	901	c.364_splice	c.e3-1	p.A122_splice	COL13A1_ENST00000398969.3_Intron|COL13A1_ENST00000398972.3_Intron|COL13A1_ENST00000398964.3_Splice_Site_p.A122_splice|COL13A1_ENST00000522165.1_Intron|COL13A1_ENST00000517713.1_Intron|COL13A1_ENST00000398973.3_Intron|COL13A1_ENST00000398974.3_Splice_Site_p.A122_splice|COL13A1_ENST00000398968.3_Splice_Site_p.A122_splice|COL13A1_ENST00000357811.3_Intron|COL13A1_ENST00000398978.3_Intron|COL13A1_ENST00000354547.3_Intron|COL13A1_ENST00000398971.3_Splice_Site_p.A122_splice|COL13A1_ENST00000520267.1_Intron|COL13A1_ENST00000520133.1_Intron|COL13A1_ENST00000398966.3_Splice_Site_p.A122_splice			Q5TAT6	CODA1_HUMAN	collagen, type XIII, alpha 1	122	Triple-helical region 1 (COL1).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding			endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28					Atorvastatin(DB01076)|Simvastatin(DB00641)	CGTCACTCTTCATTTCAGGGT	0.483000													8	36					0	0	0.000274275	0	0
KMT2B	9757	broad.mit.edu	37	19	36228844	36228844	+	Splice_Site	SNP	G	G	C			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr19:36228844G>C	ENST00000420124.1	+	35	7742		c.e35+1		KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000222270.7_Splice_Site																							GTGTCTACAGGTGAGTGGGGT	0.612000													7	10					0	0	0.00198382	0	0
TMC4	147798	broad.mit.edu	37	19	54664964	54664964	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr19:54664964G>A	ENST00000376591.4	-	12	1869	c.1738C>T	c.(1738-1740)Cgc>Tgc	p.R580C	TMC4_ENST00000416963.1_Missense_Mutation_p.R162C|TMC4_ENST00000301187.4_Missense_Mutation_p.R574C	NM_001145303.1|NM_144686.2	NP_001138775.1|NP_653287.1	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	580						integral to membrane				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CGGAAGGTGCGGGCAGCCGGG	0.562000													8	19					0	0	0.00307968	0	0
PTCHD2	57540	broad.mit.edu	37	1	11579445	11579445	+	Silent	SNP	G	G	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr1:11579445G>T	ENST00000294484.6	+	8	2061	c.1923G>T	c.(1921-1923)ctG>ctT	p.L641L	PTCHD2_ENST00000389575.3_Silent_p.L641L	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	641					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		AGACCTCCCTGCACTTCCCCG	0.652000													55	159					7.06795e-37	2.84057e-36	0.00361006	1	0
GNB2	2783	broad.mit.edu	37	7	100276155	100276155	+	Silent	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr7:100276155C>T	ENST00000303210.4	+	9	1316	c.834C>T	c.(832-834)ttC>ttT	p.F278F	GNB2_ENST00000393926.1_Silent_p.F278F|GNB2_ENST00000427895.1_Silent_p.F178F|GNB2_ENST00000419828.1_Silent_p.F178F|GNB2_ENST00000436220.1_Silent_p.F234F|GNB2_ENST00000393924.1_Silent_p.F278F|GNB2_ENST00000424361.1_Silent_p.F234F	NM_005273.3	NP_005264.2	P62879	GBB2_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 2	278					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|synaptic transmission	perinuclear region of cytoplasm|plasma membrane	GTPase activity|GTPase binding|signal transducer activity			endometrium(1)|lung(3)|ovary(2)|prostate(1)	7	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)	Ovarian(593;0.238)				CTGTTGCCTTCTCGCGCAGCG	0.622000													19	48					0	0	0.00121646	0	0
EVA1A	84141	broad.mit.edu	37	2	75720729	75720729	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr2:75720729G>A	ENST00000233712.1	-	4	529	c.92C>T	c.(91-93)cCt>cTt	p.P31L	EVA1A_ENST00000410071.1_Missense_Mutation_p.P31L|EVA1A_ENST00000490746.1_Intron|EVA1A_ENST00000393913.3_Missense_Mutation_p.P31L|EVA1A_ENST00000410010.1_Missense_Mutation_p.P19L|EVA1A_ENST00000410113.1_Missense_Mutation_p.P31L	NM_032181.2	NP_115557.1			eva-1 homolog A (C. elegans)																		TGCTCGCTCAGGATTTTCTGG	0.517000													15	18					0	0	0.00316338	0	0
LRP6	4040	broad.mit.edu	37	12	12318022	12318022	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr12:12318022G>A	ENST00000261349.4	-	8	1829	c.1753C>T	c.(1753-1755)Cga>Tga	p.R585*	LRP6_ENST00000543091.1_Nonsense_Mutation_p.R585*	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	585	Beta-propeller 2.				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			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)				CCAATCACTCGATGAACATTT	0.423000													31	91					0	0	0.0024448	0	0
SULT1C3	442038	broad.mit.edu	37	2	108881304	108881304	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr2:108881304G>C	ENST00000329106.2	+	6	645	c.645G>C	c.(643-645)aaG>aaC	p.K215N		NM_001008743.1	NP_001008743.1	Q6IMI6	ST1C3_HUMAN	sulfotransferase family, cytosolic, 1C, member 3	215						cytoplasm	alcohol sulfotransferase activity			breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						AAATTGAGAAGATACTGAAGT	0.398000													6	29					0	0	0.00116845	0	0
UNC13C	440279	broad.mit.edu	37	15	54306178	54306178	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr15:54306178G>A	ENST00000545554.1	+	1	1078	c.1078G>A	c.(1078-1080)Gct>Act	p.A360T	UNC13C_ENST00000537900.1_Missense_Mutation_p.A360T|UNC13C_ENST00000260323.11_Missense_Mutation_p.A360T			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	360					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AATTGAATTTGCTCAGAGGAT	0.378000													12	31					0	0	0.000978159	0	0
MAP1A	4130	broad.mit.edu	37	15	43819190	43819190	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr15:43819190C>A	ENST00000382031.1	+	5	6264	c.6233C>A	c.(6232-6234)gCt>gAt	p.A2078D	MAP1A_ENST00000399453.1_Missense_Mutation_p.A1840D|MAP1A_ENST00000300231.5_Missense_Mutation_p.A1840D			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1840						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	TCATGGCTGGCTGACATCCCA	0.612000													21	56					1.87028e-06	6.84265e-06	0.00188189	1	0
C10orf54	64115	broad.mit.edu	37	10	73515124	73515124	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr10:73515124G>C	ENST00000394957.3	-	4	726	c.668C>G	c.(667-669)tCc>tGc	p.S223C	CDH23_ENST00000224721.6_Intron	NM_022153.1	NP_071436.1	Q9H7M9	GI24_HUMAN	chromosome 10 open reading frame 54	223						integral to membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	9						ACGGCGGTTGGAGGCTGCCTG	0.637000													7	18					0	0	0.00198382	0	0
ZSWIM4	65249	broad.mit.edu	37	19	13928082	13928082	+	Silent	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr19:13928082G>A	ENST00000254323.2	+	7	1422	c.1233G>A	c.(1231-1233)ggG>ggA	p.G411G	ZSWIM4_ENST00000440752.2_Silent_p.G245G	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	411							zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			GATGGGTGGGGCACCCCCTGG	0.622000													29	72					0	0	0.000878237	0	0
AWAT1	158833	broad.mit.edu	37	X	69458111	69458111	+	Silent	SNP	C	C	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chrX:69458111C>A	ENST00000374521.3	+	5	551	c.510C>A	c.(508-510)ggC>ggA	p.G170G		NM_001013579.2	NP_001013597.1	Q58HT5	AWAT1_HUMAN	acyl-CoA wax alcohol acyltransferase 1	170					lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	long-chain-alcohol O-fatty-acyltransferase activity			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(3)|ovary(4)|skin(1)	15						TGAGCCATGGCACTGGCAACC	0.542000													30	76					2.85442e-18	1.12168e-17	0.00209593	1	0
AGAP7	653268	broad.mit.edu	37	10	51465428	51465428	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr10:51465428T>C	ENST00000374095.5	-	7	1153	c.1028A>G	c.(1027-1029)gAc>gGc	p.D343G		NM_001077685.1	NP_001071153.1	Q5VUJ5	AGAP7_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 7	343	PH.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						GGTGTCCATGTCCTTGGATAG	0.557000													48	221					0	0	0.00361006	0	0
LAMA4	3910	broad.mit.edu	37	6	112506519	112506519	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr6:112506519C>T	ENST00000230538.7	-	9	1394	c.997G>A	c.(997-999)Gcc>Acc	p.A333T	LAMA4_ENST00000424408.2_Missense_Mutation_p.A326T|LAMA4_ENST00000389463.4_Missense_Mutation_p.A326T|LAMA4_ENST00000522006.1_Missense_Mutation_p.A326T	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	333	Domain II and I.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TTTCTTAGGGCGTATTGGTTT	0.358000													26	111					0	0	0.00395357	0	0
TFE3	7030	broad.mit.edu	37	X	48891046	48891046	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chrX:48891046C>T	ENST00000315869.7	-	8	1329	c.1070G>A	c.(1069-1071)cGc>cAc	p.R357H	TFE3_ENST00000493583.1_5'UTR	NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN	transcription factor binding to IGHM enhancer 3	357					humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding		NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						GAATCGCCTGCGACGCTCAAC	0.532000			T	"""SFPQ, ASPSCR1, PRCC, NONO, CLTC"""	"""papillary renal, alveolar soft part sarcoma, renal"""								22	47					0	0	0.00229938	0	0
CYP26C1	340665	broad.mit.edu	37	10	94828253	94828253	+	Silent	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr10:94828253G>A	ENST00000285949.5	+	6	1368	c.1368G>A	c.(1366-1368)gcG>gcA	p.A456A		NM_183374.2	NP_899230.2	Q6V0L0	CP26C_HUMAN	cytochrome P450, family 26, subfamily C, polypeptide 1	456					anterior/posterior pattern formation|central nervous system development|negative regulation of retinoic acid receptor signaling pathway|neural crest cell development|organelle fusion|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			central_nervous_system(1)|lung(3)|ovary(1)	5		Colorectal(252;0.122)				GCGGCGGTGCGCGCAGCTGCC	0.706000													5	24					0	0	0.000602214	0	0
UNC5A	90249	broad.mit.edu	37	5	176306459	176306459	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr5:176306459G>A	ENST00000329542.4	+	14	2607	c.2333G>A	c.(2332-2334)cGg>cAg	p.R778Q	UNC5A_ENST00000261961.3_Missense_Mutation_p.R738Q	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	778	Death.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCCGACTGGCGGACTCTGGCC	0.677000													28	118					0	0	0.0024448	0	0
ABR	29	broad.mit.edu	37	17	961286	961286	+	Splice_Site	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr17:961286C>T	ENST00000544583.2	-	12	1767		c.e12-1		ABR_ENST00000573895.1_5'UTR|ABR_ENST00000536794.2_Splice_Site|ABR_ENST00000291107.2_Splice_Site|ABR_ENST00000302538.5_Splice_Site|ABR_ENST00000574437.1_Splice_Site	NM_001159746.2	NP_001153218.1	Q12979	ABR_HUMAN	active BCR-related						apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		ACAGGTAACTCTGAAGAGAGG	0.468000													9	30					0	0	0.000442599	0	0
PRCC	5546	broad.mit.edu	37	1	156756531	156756531	+	Silent	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr1:156756531G>A	ENST00000271526.4	+	3	920	c.648G>A	c.(646-648)aaG>aaA	p.K216K	PRCC_ENST00000353233.3_Silent_p.K216K|PRCC_ENST00000491853.1_3'UTR	NM_005973.4	NP_005964.3	Q92733	PRCC_HUMAN	papillary renal cell carcinoma (translocation-associated)	216					cell cycle|mitotic cell cycle checkpoint	nucleus	protein binding		PRCC/TFE3(25)	breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(5)|upper_aerodigestive_tract(1)	15	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CTGATACTAAGCCCTCCAGAC	0.562000			T	TFE3	papillary renal								19	74					0	0	0.00188189	0	0
IGSF10	285313	broad.mit.edu	37	3	151154847	151154847	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr3:151154847C>G	ENST00000282466.3	-	6	7501	c.7502G>C	c.(7501-7503)aGa>aCa	p.R2501T	MED12L_ENST00000474524.1_3'UTR|IGSF10_ENST00000495443.1_5'UTR	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	2501	Ig-like C2-type 11.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATAGTTTCCTCTGTCATAAGC	0.393000													40	142					0	0	0.00148497	0	0
APLP2	334	broad.mit.edu	37	11	130000002	130000002	+	Missense_Mutation	SNP	C	C	T	rs149975560		TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr11:130000002C>T	ENST00000263574.5	+	11	1597	c.1525C>T	c.(1525-1527)Cgt>Tgt	p.R509C	APLP2_ENST00000543137.1_Missense_Mutation_p.R416C|APLP2_ENST00000539648.1_Missense_Mutation_p.R297C|APLP2_ENST00000345598.5_Missense_Mutation_p.R280C|APLP2_ENST00000338167.5_Missense_Mutation_p.R509C|APLP2_ENST00000278756.7_Missense_Mutation_p.R519C|APLP2_ENST00000528499.1_Missense_Mutation_p.R453C	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	509					G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		ACATACCATCCGTCATTACCA	0.478000													24	113					0	0	0.00395357	0	0
LRRC4	64101	broad.mit.edu	37	7	127670193	127670193	+	Silent	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr7:127670193G>A	ENST00000249363.3	-	2	758	c.501C>T	c.(499-501)ttC>ttT	p.F167F	SND1_ENST00000354725.3_Intron	NM_022143.4	NP_071426.1	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4	167						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26				Lung(243;0.124)		GCACCCGGTTGAAGGCGTAAG	0.572000													20	79					0	0	0.00188189	0	0
DGKD	8527	broad.mit.edu	37	2	234354353	234354353	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr2:234354353C>T	ENST00000264057.2	+	11	1291	c.1279C>T	c.(1279-1281)Cag>Tag	p.Q427*	DGKD_ENST00000409813.3_Nonsense_Mutation_p.Q383*	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	427	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	TGACGACACCCAGCTCCCCCA	0.607000													28	40					0	0	0.001512	0	0
LRRC4	64101	broad.mit.edu	37	7	127669962	127669962	+	Silent	SNP	G	G	C			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr7:127669962G>C	ENST00000249363.3	-	2	989	c.732C>G	c.(730-732)ctC>ctG	p.L244L	SND1_ENST00000354725.3_Intron	NM_022143.4	NP_071426.1	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4	244						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26				Lung(243;0.124)		AGAGCTTCTTGAGGGAGCTCA	0.572000													17	40					0	0	0.000566183	0	0
MAP2	4133	broad.mit.edu	37	2	210543343	210543343	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr2:210543343G>T	ENST00000360351.4	+	5	816	c.310G>T	c.(310-312)Gca>Tca	p.A104S	MAP2_ENST00000447185.1_Missense_Mutation_p.A104S|MAP2_ENST00000361559.4_Missense_Mutation_p.A104S|MAP2_ENST00000199940.6_Missense_Mutation_p.A104S|MAP2_ENST00000392194.1_Missense_Mutation_p.A104S	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	104					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	TGAGGCTGTAGCAGTCCTGAA	0.413000													30	44					3.1745e-13	9.12382e-13	0.001512	1	0
ZNF391	346157	broad.mit.edu	37	6	27368900	27368900	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr6:27368900T>C	ENST00000244576.4	+	3	1296	c.751T>C	c.(751-753)Tgc>Cgc	p.C251R		NM_001076781.1	NP_001070249.1	Q9UJN7	ZN391_HUMAN	zinc finger protein 391	251					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|large_intestine(6)|lung(7)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	21						TCCCTATGAATGCAGTAAATG	0.438000													4	30					0	0	0.000602214	0	0
MUC16	94025	broad.mit.edu	37	19	9061995	9061995	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr19:9061995G>A	ENST00000397910.4	-	3	25654	c.25451C>T	c.(25450-25452)tCc>tTc	p.S8484F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8486	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CATAATGGGGGAAGTAGAAAG	0.488000													70	205					0	0	0.00361006	0	0
KIAA1804	84451	broad.mit.edu	37	1	233489592	233489592	+	Silent	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr1:233489592C>T	ENST00000366624.3	+	3	1287	c.1026C>T	c.(1024-1026)gtC>gtT	p.V342V	MLK4_ENST00000366623.3_Silent_p.V342V	NM_032435.2	NP_115811.2																					CCGGAGAAGTCCCCTATCGGG	0.517000													18	57					0	0	0.000566183	0	0
LRIT3	345193	broad.mit.edu	37	4	110790844	110790844	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr4:110790844G>A	ENST00000327908.3	+	4	1154	c.390G>A	c.(388-390)atG>atA	p.M130I	LRIT3_ENST00000379920.3_Missense_Mutation_p.M268I|LRIT3_ENST00000409621.2_Missense_Mutation_p.M130I|LRIT3_ENST00000594814.1_Missense_Mutation_p.M313I			Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 3	268			S -> N (in dbSNP:rs4698797).			integral to membrane				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		GGTCCATAATGAGCTTGACAG	0.423000													23	116					0	0	0.00229938	0	0
IRF1	3659	broad.mit.edu	37	5	131820153	131820153	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr5:131820153C>T	ENST00000245414.4	-	9	1012	c.754G>A	c.(754-756)Gat>Aat	p.D252N	IRF1_ENST00000405885.2_Missense_Mutation_p.D252N	NM_002198.2	NP_002189.1	P10914	IRF1_HUMAN	interferon regulatory factor 1	252					blood coagulation|cellular response to mechanical stimulus|interferon-gamma-mediated signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleoplasm				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.026)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)		CCCTTCCCATCCACGTTTGTT	0.567000													23	146					0	0	0.00229938	0	0
OR5M11	219487	broad.mit.edu	37	11	56309925	56309925	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr11:56309925G>T	ENST00000528616.2	-	1	832	c.809C>A	c.(808-810)tCt>tAt	p.S270Y		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						TATTATTTTAGATTCCTCAAC	0.408000													23	69					9.95505e-16	2.91358e-15	0.00229938	1	0
MYO3B	140469	broad.mit.edu	37	2	171243774	171243774	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr2:171243774C>G	ENST00000334231.6	+	14	1560	c.1560C>G	c.(1558-1560)atC>atG	p.I520M	MYO3B_ENST00000408978.4_Missense_Mutation_p.I511M|MYO3B_ENST00000409044.3_Missense_Mutation_p.I511M|MYO3B_ENST00000602629.1_3'UTR			Q8WXR4	MYO3B_HUMAN	myosin IIIB	511	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						GGGCAAGAATCTCTGAATATC	0.428000													23	64					0	0	0.00465635	0	0
ATRX	546	broad.mit.edu	37	X	76937979	76937979	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chrX:76937979C>A	ENST00000373344.5	-	9	2983	c.2769G>T	c.(2767-2769)aaG>aaT	p.K923N	ATRX_ENST00000395603.3_Missense_Mutation_p.K885N|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	923					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TCCCAGAAAGCTTATCGACAC	0.398000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						41	230					4.32679e-17	1.271e-16	0.00148497	1	0
CDH23	64072	broad.mit.edu	37	10	73537541	73537541	+	Silent	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr10:73537541C>T	ENST00000224721.6	+	38	4970	c.4965C>T	c.(4963-4965)ctC>ctT	p.L1655L		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1650	Cadherin 16.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CAGACACGCTCAACACCAGCC	0.582000													13	38					0	0	0.00136819	0	0
ATG4A	115201	broad.mit.edu	37	X	107377334	107377334	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chrX:107377334A>C	ENST00000372232.3	+	5	499	c.340A>C	c.(340-342)Atc>Ctc	p.I114L	ATG4A_ENST00000345734.3_Missense_Mutation_p.I114L|ATG4A_ENST00000372254.3_Missense_Mutation_p.I90L|ATG4A_ENST00000545696.1_Missense_Mutation_p.I37L	NM_052936.3	NP_443168.2	Q8WYN0	ATG4A_HUMAN	autophagy related 4A, cysteine peptidase	114					autophagy|protein transport|proteolysis	cytoplasm	cysteine-type peptidase activity			endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)	11						ATACCAACGCATCCTACAGTG	0.348000													14	21					0	0	0.000566183	0	0
ROS1	6098	broad.mit.edu	37	6	117709162	117709162	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr6:117709162C>T	ENST00000368508.3	-	13	1993	c.1795G>A	c.(1795-1797)Gaa>Aaa	p.E599K	ROS1_ENST00000368507.3_Intron|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	599	Fibronectin type-III 3.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GGGCCTAATTCAAAGAGTTCA	0.438000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								31	86					0	0	0.001512	0	0
MYO3A	53904	broad.mit.edu	37	10	26377303	26377303	+	Silent	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr10:26377303C>T	ENST00000265944.5	+	15	1697	c.1531C>T	c.(1531-1533)Ctg>Ttg	p.L511L	MYO3A_ENST00000543632.1_Silent_p.L511L	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	511	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TGAATATCTCCTGGAAAAATC	0.343000													4	36					0	0	0.00116845	0	0
CATSPER1	117144	broad.mit.edu	37	11	65788061	65788061	+	Silent	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr11:65788061G>A	ENST00000312106.5	-	7	2102	c.1965C>T	c.(1963-1965)atC>atT	p.I655I		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	655					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						ACTGGATGATGATGTAAATTA	0.597000													9	39					0	0	0.00448238	0	0
KCNMB1	3779	broad.mit.edu	37	5	169805750	169805750	+	Silent	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr5:169805750C>T	ENST00000274629.4	-	4	976	c.534G>A	c.(532-534)gtG>gtA	p.V178V	KCNIP1_ENST00000377360.4_Intron|KCNIP1_ENST00000518527.1_Intron	NM_004137.3	NP_004128.1	Q16558	KCMB1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 1	178					platelet activation|synaptic transmission		calcium-activated potassium channel activity|potassium channel regulator activity			endometrium(1)|large_intestine(1)|lung(7)|ovary(2)	11	Renal(175;0.000159)|Lung NSC(126;0.0165)|all_lung(126;0.026)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.175)		GGTTGCTCTTCACCATGGCGA	0.627000													21	82					0	0	0.00152264	0	0
KDM2B	84678	broad.mit.edu	37	12	121947475	121947475	+	Silent	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr12:121947475C>T	ENST00000377069.4	-	11	1855	c.1449G>A	c.(1447-1449)ctG>ctA	p.L483L	KDM2B_ENST00000542973.1_5'UTR|KDM2B_ENST00000377071.4_Silent_p.L514L|KDM2B_ENST00000536437.1_Silent_p.L397L|KDM2B_ENST00000538046.2_Silent_p.L424L	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	514					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						TCAGGCCCTTCAGTTCAAACT	0.597000													16	59					0	0	0.000566183	0	0
EZH2	2146	broad.mit.edu	37	7	148515125	148515125	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr7:148515125G>A	ENST00000320356.2	-	10	1205	c.1084C>T	c.(1084-1086)Cgg>Tgg	p.R362W	EZH2_ENST00000483967.1_Missense_Mutation_p.R348W|EZH2_ENST00000350995.2_Missense_Mutation_p.R318W|EZH2_ENST00000476773.1_Missense_Mutation_p.R348W|EZH2_ENST00000460911.1_Missense_Mutation_p.R357W|EZH2_ENST00000478654.1_Missense_Mutation_p.R348W|EZH2_ENST00000541220.1_Missense_Mutation_p.R348W	NM_001203247.1|NM_001203248.1|NM_004456.4	NP_001190176.1|NP_001190177.1|NP_004447.2	Q15910	EZH2_HUMAN	enhancer of zeste homolog 2 (Drosophila)	357					negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			TTGGGAAGCCGTCCTCTTCTG	0.537000			Mis		DLBCL								25	104					0	0	0.00278032	0	0
LY9	4063	broad.mit.edu	37	1	160769734	160769734	+	Nonsense_Mutation	SNP	C	C	T	rs12049314		TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr1:160769734C>T	ENST00000263285.5	+	2	346	c.316C>T	c.(316-318)Cga>Tga	p.R106*	LY9_ENST00000471816.1_3'UTR|LY9_ENST00000368041.2_Nonsense_Mutation_p.R66*|LY9_ENST00000368039.2_Nonsense_Mutation_p.R106*|LY9_ENST00000341032.4_Nonsense_Mutation_p.R106*|LY9_ENST00000368040.1_5'UTR	NM_001261456.1|NM_002348.3	NP_001248385.1|NP_002339.2	Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	106	Ig-like V-type 1.				cell adhesion|immunoglobulin mediated immune response	integral to membrane				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)			CTACCTGGGCCGACTAGACAT	0.448000													17	87					0	0	0.00400662	0	0
UNC119	9094	broad.mit.edu	37	17	26874665	26874665	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr17:26874665C>T	ENST00000470125.1	-	3	1113	c.355G>A	c.(355-357)Gaa>Aaa	p.E119K	UNC119_ENST00000484980.1_Intron|UNC119_ENST00000335765.4_Intron|UNC119_ENST00000301032.4_Missense_Mutation_p.E214K			Q13432	U119A_HUMAN	unc-119 homolog (C. elegans)	0					phototransduction|synaptic transmission|visual perception	cytosol|soluble fraction				breast(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	7	Lung NSC(42;0.00431)					GCCCCCACTTCCCCACTCCCA	0.612000													13	29					0	0	0.00244969	0	0
BBS9	27241	broad.mit.edu	37	7	33296932	33296932	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr7:33296932C>T	ENST00000242067.6	+	6	1048	c.527C>T	c.(526-528)cCt>cTt	p.P176L	BBS9_ENST00000350941.3_Missense_Mutation_p.P176L|BBS9_ENST00000425508.2_Missense_Mutation_p.P131L|BBS9_ENST00000396127.2_Missense_Mutation_p.P176L|BBS9_ENST00000355070.2_Missense_Mutation_p.P176L|BBS9_ENST00000354265.4_Missense_Mutation_p.P176L	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	176					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding		BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			AGATTTCTCCCTGGCTTTCTT	0.433000									Bardet-Biedl syndrome				19	46					0	0	0.000958276	0	0
GUCY2F	2986	broad.mit.edu	37	X	108708626	108708626	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chrX:108708626C>G	ENST00000218006.2	-	3	1068	c.777G>C	c.(775-777)caG>caC	p.Q259H		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	259					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						AGAGATGCATCTGAGTCTCTC	0.413000													44	127					0	0	0.00361006	0	0
EFHC1	114327	broad.mit.edu	37	6	52317592	52317592	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr6:52317592C>T	ENST00000371068.5	+	4	783	c.680C>T	c.(679-681)tCa>tTa	p.S227L	EFHC1_ENST00000433625.2_Missense_Mutation_p.S136L|EFHC1_ENST00000538167.1_Missense_Mutation_p.S208L	NM_018100.3	NP_060570.2	Q5JVL4	EFHC1_HUMAN	EF-hand domain (C-terminal) containing 1	227						axoneme|neuronal cell body	calcium ion binding|protein C-terminus binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27	Lung NSC(77;0.109)					GTCACCCCATCAGACTTTGAT	0.398000													22	88					0	0	0.00188189	0	0
ITGB1	3688	broad.mit.edu	37	10	33200509	33200509	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr10:33200509C>T	ENST00000396033.2	-	13	1933	c.1798G>A	c.(1798-1800)Gaa>Aaa	p.E600K	ITGB1_ENST00000374956.4_Missense_Mutation_p.E600K|ITGB1_ENST00000302278.3_Missense_Mutation_p.E600K|ITGB1_ENST00000423113.1_Missense_Mutation_p.E600K	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	600	Cysteine-rich tandem repeats.				axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)				TTGCTGGCTTCACAAGTACTA	0.493000													27	138					0	0	0.00465635	0	0
KIAA0907	22889	broad.mit.edu	37	1	155903485	155903485	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr1:155903485T>C	ENST00000368320.3	-	2	219	c.194A>G	c.(193-195)aAg>aGg	p.K65R	KIAA0907_ENST00000368321.3_Missense_Mutation_p.K65R|KIAA0907_ENST00000482337.1_5'UTR|KIAA0907_ENST00000368319.3_Missense_Mutation_p.K65R			Q7Z7F0	K0907_HUMAN	KIAA0907	65										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			GGCATTAATCTTGGCAGCCAC	0.542000													5	21					0	0	0.000602214	0	0
NUTM1	256646	broad.mit.edu	37	15	34649146	34649146	+	Silent	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr15:34649146G>A	ENST00000537011.1	+	8	3319	c.2937G>A	c.(2935-2937)gaG>gaA	p.E979E	NUTM1_ENST00000333756.4_Silent_p.E951E|NUTM1_ENST00000438749.3_Silent_p.E969E					NUT midline carcinoma, family member 1																		CTTTACAAGAGAGTCAGGAGT	0.502000													9	56					0	0	0.00448238	0	0
EPHA2	1969	broad.mit.edu	37	1	16456829	16456829	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr1:16456829C>T	ENST00000358432.5	-	15	2715	c.2561G>A	c.(2560-2562)tGg>tAg	p.W854*		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	854	Mediates interaction with ARHGEF16 and ELMO2.|Protein kinase.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	CTCCTGCTGCCAGCACTGCAT	0.612000													16	51					0	0	0.00316338	0	0
BACH2	60468	broad.mit.edu	37	6	90660231	90660231	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr6:90660231C>G	ENST00000257749.4	-	7	2301	c.1594G>C	c.(1594-1596)Ggg>Cgg	p.G532R	BACH2_ENST00000537989.1_Missense_Mutation_p.G532R|BACH2_ENST00000343122.3_Missense_Mutation_p.G532R|RP3-512E2.2_ENST00000413986.1_RNA|RP3-512E2.2_ENST00000445838.1_RNA	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	532						nucleus	protein dimerization activity|sequence-specific DNA binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		CCCCCGCTCCCGTCCTCCGCG	0.622000													17	51					0	0	0.00074312	0	0
ARC	23237	broad.mit.edu	37	8	143695543	143695543	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr8:143695543C>G	ENST00000356613.2	-	1	1290	c.90G>C	c.(88-90)caG>caC	p.Q30H		NM_015193.3	NP_056008.1	Q7LC44	ARC_HUMAN	activity-regulated cytoskeleton-associated protein	30					endocytosis	acrosomal vesicle|cell junction|dendritic spine|endosome|postsynaptic density|postsynaptic membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	13	all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.0279)				ACTTCCCGATCTGCAGGATCA	0.726000													4	19					0	0	0.00024832	0	0
PCDH12	51294	broad.mit.edu	37	5	141335106	141335106	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr5:141335106G>A	ENST00000231484.3	-	1	3521	c.2311C>T	c.(2311-2313)Cag>Tag	p.Q771*		NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	771					neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTGCCTTCTGAATGTGTTTC	0.587000													11	62					0	0	0.00136819	0	0
ALX1	8092	broad.mit.edu	37	12	85695240	85695240	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr12:85695240C>T	ENST00000316824.3	+	4	1123	c.968C>T	c.(967-969)tCa>tTa	p.S323L		NM_006982.2	NP_008913.2	Q15699	ALX1_HUMAN	ALX homeobox 1	323					brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26				GBM - Glioblastoma multiforme(134;0.134)		GCCAATATTTCATGGGCCATG	0.368000													16	50					0	0	0.00316338	0	0
NCOR1	9611	broad.mit.edu	37	17	15964844	15964844	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr17:15964844C>G	ENST00000268712.3	-	37	6009	c.5752G>C	c.(5752-5754)Gag>Cag	p.E1918Q	NCOR1_ENST00000395851.1_Intron|NCOR1_ENST00000395857.3_Missense_Mutation_p.E502Q	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1918	Interaction with C1D (By similarity).				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GTCCTTAGCTCTTCCTCATAT	0.498000													59	192					0	0	0.00361006	0	0
HPS6	79803	broad.mit.edu	37	10	103826348	103826348	+	Missense_Mutation	SNP	G	G	A	rs140222296		TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr10:103826348G>A	ENST00000299238.5	+	1	1202	c.1117G>A	c.(1117-1119)Ggg>Agg	p.G373R		NM_024747.5	NP_079023.2	Q86YV9	HPS6_HUMAN	Hermansky-Pudlak syndrome 6	373						cytosol|early endosome membrane|endoplasmic reticulum|microsome				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		GGAGACCCGAGGGAATCTTCG	0.572000									Hermansky-Pudlak syndrome				11	60					0	0	0.000673444	0	0
CDH3	1001	broad.mit.edu	37	16	68721545	68721545	+	Silent	SNP	C	C	T	rs140790125	byFrequency	TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr16:68721545C>T	ENST00000264012.4	+	12	2245	c.1701C>T	c.(1699-1701)atC>atT	p.I567I	CDH3_ENST00000429102.2_Silent_p.I567I|CDH3_ENST00000581171.1_Silent_p.I512I	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	567	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		TGCTGAACATCACGGACAAGG	0.562000													25	70					0	0	0.00465635	0	0
WDR7	23335	broad.mit.edu	37	18	54423844	54423844	+	Silent	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr18:54423844C>T	ENST00000254442.3	+	15	2231	c.2020C>T	c.(2020-2022)Ctg>Ttg	p.L674L	WDR7_ENST00000357574.3_Silent_p.L674L|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	674										NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		TCATAACTCCCTGATGGTTCA	0.308000													16	64					0	0	0.00074312	0	0
IRF1	3659	broad.mit.edu	37	5	131820066	131820066	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr5:131820066C>G	ENST00000245414.4	-	9	1099	c.841G>C	c.(841-843)Gac>Cac	p.D281H	IRF1_ENST00000405885.2_Missense_Mutation_p.D281H	NM_002198.2	NP_002189.1	P10914	IRF1_HUMAN	interferon regulatory factor 1	281					blood coagulation|cellular response to mechanical stimulus|interferon-gamma-mediated signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleoplasm				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.026)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)		CCTGGGCTGTCAATTTCTGGC	0.552000													19	99					0	0	0.00188189	0	0
RYR3	6263	broad.mit.edu	37	15	34105687	34105687	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr15:34105687C>T	ENST00000389232.4	+	74	10479	c.10409C>T	c.(10408-10410)tCc>tTc	p.S3470F	RYR3_ENST00000415757.3_Missense_Mutation_p.S3465F	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3470					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CCTTTGAGGTCCAAGAAGGCC	0.532000													29	113					0	0	0.00106085	0	0
PPM1M	132160	broad.mit.edu	37	3	52283691	52283691	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr3:52283691C>G	ENST00000323588.4	+	10	1123	c.758C>G	c.(757-759)tCa>tGa	p.S253*	PPM1M_ENST00000457351.2_Nonsense_Mutation_p.S414*|PPM1M_ENST00000409502.3_Nonsense_Mutation_p.S202*|PPM1M_ENST00000296487.4_3'UTR			Q96MI6	PPM1M_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1M	0					protein dephosphorylation	nucleus	CTD phosphatase activity|manganese ion binding			prostate(1)|urinary_tract(1)	2				BRCA - Breast invasive adenocarcinoma(193;2.4e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)		CACAGGTTCTCAAAGCTGGCC	0.537000													7	22					0	0	0.00307968	0	0
WDR44	54521	broad.mit.edu	37	X	117526618	117526618	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chrX:117526618G>C	ENST00000254029.3	+	4	605	c.210G>C	c.(208-210)gaG>gaC	p.E70D	WDR44_ENST00000493448.1_3'UTR|WDR44_ENST00000371822.5_Missense_Mutation_p.E45D|WDR44_ENST00000371825.3_Missense_Mutation_p.E70D	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN	WD repeat domain 44	70	Binding activity.					cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm				breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						TTATTGAGGAGAGTCAGAAAG	0.343000													19	65					0	0	0.00074312	0	0
SMC4	10051	broad.mit.edu	37	3	160135570	160135570	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr3:160135570G>A	ENST00000357388.3	+	11	1948	c.1497G>A	c.(1495-1497)atG>atA	p.M499I	SMC4_ENST00000360111.2_Missense_Mutation_p.M499I|SMC4_ENST00000344722.5_Missense_Mutation_p.M499I|SMC4_ENST00000462787.1_Missense_Mutation_p.M499I|SMC4_ENST00000469762.1_Missense_Mutation_p.M474I|RP11-432B6.3_ENST00000483754.1_Intron	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	499					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GTTCAAAGATGGATGTAGCCC	0.378000													19	79					0	0	0.00188189	0	0
KDM7A	80853	broad.mit.edu	37	7	139801957	139801957	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr7:139801957C>T	ENST00000397560.2	-	12	1529	c.1432G>A	c.(1432-1434)Gaa>Aaa	p.E478K	JHDM1D_ENST00000006967.5_Missense_Mutation_p.E478K	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7_HUMAN		478					midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					TTGCCGTTTTCCTCCTTTAAG	0.348000													25	62					0	0	0.00395357	0	0
PRCC	5546	broad.mit.edu	37	1	156756531	156756531	+	Silent	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr1:156756531G>A	ENST00000271526.4	+	3	920	c.648G>A	c.(646-648)aaG>aaA	p.K216K	PRCC_ENST00000491853.1_3'UTR|PRCC_ENST00000353233.3_Silent_p.K216K	NM_005973.4	NP_005964.3	Q92733	PRCC_HUMAN	papillary renal cell carcinoma (translocation-associated)	216					cell cycle|mitotic cell cycle checkpoint	nucleus	protein binding		PRCC/TFE3(25)	breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(5)|upper_aerodigestive_tract(1)	15	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CTGATACTAAGCCCTCCAGAC	0.562000			T	TFE3	papillary renal								19	74					0	0	0.00188189	0	0
DENND5B	160518	broad.mit.edu	37	12	31605306	31605306	+	Silent	SNP	A	A	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr12:31605306A>T	ENST00000389082.5	-	5	1461	c.1197T>A	c.(1195-1197)gtT>gtA	p.V399V	DENND5B_ENST00000354285.4_Silent_p.V421V|DENND5B_ENST00000306833.6_Silent_p.V434V|DENND5B_ENST00000536562.1_Silent_p.V434V	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	399						integral to membrane				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						ATTGAACAAGAACCTCAGAGA	0.403000													17	66					0	0	0.000958276	0	0
JRK	8629	broad.mit.edu	37	8	143746149	143746149	+	RNA	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr8:143746149C>T	ENST00000507178.2	-	0	1661									jerky homolog (mouse)													all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;2.31e-05)				cctcccttcccgctacccccc	0.647000													5	12					0	0	0.000602214	0	0
SMYD4	114826	broad.mit.edu	37	17	1704088	1704088	+	Silent	SNP	T	T	C			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr17:1704088T>C	ENST00000305513.7	-	5	767	c.600A>G	c.(598-600)gaA>gaG	p.E200E		NM_052928.2	NP_443160.2	Q8IYR2	SMYD4_HUMAN	SET and MYND domain containing 4	200							zinc ion binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1)	21						GACTGTCCTTTTCTTGCATCT	0.498000													48	164					0	0	0.00361006	0	0
FAM86C1	55199	broad.mit.edu	37	11	71500886	71500886	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr11:71500886C>A	ENST00000359244.4	+	2	177	c.154C>A	c.(154-156)Cag>Aag	p.Q52K	FAM86C1_ENST00000346333.6_Missense_Mutation_p.Q52K|FAM86C1_ENST00000426628.2_Missense_Mutation_p.Q52K|FAM86C1_ENST00000528685.1_Missense_Mutation_p.Q52K	NM_018172.2	NP_060642.2	Q9NVL1	FA86C_HUMAN	family with sequence similarity 86, member C1	52										lung(1)	1						GGATATTTTGCAGAAGGTAAG	0.483000													20	72					6.44725e-10	1.83322e-09	0.00229938	1	0
F2	2147	broad.mit.edu	37	11	46747651	46747651	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr11:46747651G>A	ENST00000311907.5	+	7	858	c.802G>A	c.(802-804)Gat>Aat	p.D268N	F2_ENST00000530231.1_Missense_Mutation_p.D268N	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN	coagulation factor II (thrombin)	268	Kringle 2.				activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction	calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898)	CCCAGACGGGGATGAGGAGGG	0.632000													21	121					0	0	0.00188189	0	0
ACTC1	70	broad.mit.edu	37	15	35082673	35082673	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr15:35082673C>G	ENST00000290378.4	-	7	1729	c.1074G>C	c.(1072-1074)tgG>tgC	p.W358C	RP11-814P5.1_ENST00000503496.1_RNA	NM_005159.4	NP_005150.1	P68032	ACTC_HUMAN	actin, alpha, cardiac muscle 1	358					apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	actomyosin, actin part|cytosol|I band	ATP binding|ATPase activity|myosin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		GCTTGCTAATCCACATTTGCT	0.502000													41	91					0	0	0.0025221	0	0
OCM2	4951	broad.mit.edu	37	7	97617811	97617811	+	Silent	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr7:97617811G>A	ENST00000257627.4	-	2	202	c.111C>T	c.(109-111)tcC>tcT	p.S37S	OCM2_ENST00000473987.2_5'UTR	NM_006188.3	NP_006179.2	P0CE71	OCM2_HUMAN	oncomodulin 2	37							calcium ion binding			lung(4)	4						CTGACATCTTGGAGAGGCCTG	0.458000													42	128					0	0	0.00222228	0	0
CEP135	9662	broad.mit.edu	37	4	56820513	56820513	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr4:56820513C>G	ENST00000257287.4	+	4	560	c.436C>G	c.(436-438)Caa>Gaa	p.Q146E	CEP135_ENST00000422247.2_Missense_Mutation_p.Q146E	NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	146					centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					TCAACAACTTCAAGAAAAGAA	0.323000													21	48					0	0	0.00332997	0	0
PIAS4	51588	broad.mit.edu	37	19	4037462	4037462	+	Silent	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr19:4037462G>A	ENST00000262971.2	+	10	1348	c.1233G>A	c.(1231-1233)aaG>aaA	p.K411K		NM_015897.2	NP_056981.2	Q8N2W9	PIAS4_HUMAN	protein inhibitor of activated STAT, 4	411					positive regulation of protein sumoylation|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|PML body	DNA binding|SUMO ligase activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(3)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGCCGAAAAGGAGCGCAGCT	0.687000													8	31					0	0	0.00307968	0	0
SIRPA	140885	broad.mit.edu	37	20	1895762	1895762	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr20:1895762G>A	ENST00000358771.4	+	2	249	c.97G>A	c.(97-99)Gag>Aag	p.E33K	SIRPA_ENST00000400068.3_Missense_Mutation_p.E33K|SIRPA_ENST00000356025.3_Missense_Mutation_p.E33K	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	33	Ig-like V-type.				blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		GGGTGAGGAGGAGCTGCAGGT	0.527000													11	15					0	0	0.000978159	0	0
ZNF442	79973	broad.mit.edu	37	19	12474424	12474424	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr19:12474424C>G	ENST00000242804.4	-	3	604	c.22G>C	c.(22-24)Gac>Cac	p.D8H	ZNF442_ENST00000438182.1_Intron	NM_030824.2	NP_110451.1	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	8					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						TCACTTCTGTCTTCTCCCCCA	0.473000													22	99					0	0	0.00278032	0	0
NT5C1A	84618	broad.mit.edu	37	1	40131889	40131889	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr1:40131889A>G	ENST00000235628.1	-	2	154	c.155T>C	c.(154-156)gTc>gCc	p.V52A		NM_032526.1	NP_115915.1	Q9BXI3	5NT1A_HUMAN	5'-nucleotidase, cytosolic IA	52					purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding			breast(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)	15	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			AGCGATGGTGACTGCATTCTG	0.592000													7	36					0	0	0.00307968	0	0
PACS2	23241	broad.mit.edu	37	14	105843172	105843172	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr14:105843172A>T	ENST00000447393.1	+	9	1044	c.869A>T	c.(868-870)tAt>tTt	p.Y290F	PACS2_ENST00000547217.1_Missense_Mutation_p.Y260F|PACS2_ENST00000325438.8_Missense_Mutation_p.Y290F|PACS2_ENST00000458164.2_Missense_Mutation_p.Y290F|PACS2_ENST00000430725.2_Missense_Mutation_p.Y215F	NM_015197.3	NP_056012.2	Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	290					apoptosis|interspecies interaction between organisms	endoplasmic reticulum lumen|mitochondrion				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		GACCTCCTGTATGACACCCTG	0.667000													23	38					0	0	0.00278032	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117375087	117375087	+	Silent	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr7:117375087G>A	ENST00000160373.3	-	16	3847	c.3756C>T	c.(3754-3756)gcC>gcT	p.A1252A		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1252										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		CCTGGAGACAGGCCTTGGCGA	0.537000													6	45					0	0	0.00116845	0	0
ACVR1B	91	broad.mit.edu	37	12	52369156	52369156	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr12:52369156C>T	ENST00000257963.4	+	2	276	c.199C>T	c.(199-201)Cgc>Tgc	p.R67C	ACVR1B_ENST00000426655.2_Missense_Mutation_p.R67C|ACVR1B_ENST00000541224.1_Missense_Mutation_p.R67C|ACVR1B_ENST00000542485.1_Missense_Mutation_p.R15C|ACVR1B_ENST00000415850.2_Missense_Mutation_p.R67C	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN	activin A receptor, type IB	67					G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway	cell surface	activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding			breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	GCACCATGTGCGCACCTGCAT	0.592000													18	46					0	0	0.00074312	0	0
L1CAM	3897	broad.mit.edu	37	X	153128177	153128177	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chrX:153128177C>T	ENST00000370060.1	-	29	3904	c.3715G>A	c.(3715-3717)Ggg>Agg	p.G1239R	L1CAM_ENST00000361981.3_Missense_Mutation_p.G1230R|L1CAM_ENST00000361699.4_Missense_Mutation_p.G1235R|L1CAM_ENST00000370057.3_Missense_Mutation_p.G1239R|L1CAM_ENST00000538883.1_Missense_Mutation_p.G1237R|L1CAM_ENST00000370055.1_Missense_Mutation_p.G1230R|L1CAM_ENST00000543994.1_Missense_Mutation_p.G1241R	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	1239			G -> E.		axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCATTGCCCCCTGCCGCCTCC	0.602000													22	67					0	0	0.00229938	0	0
NSFL1C	55968	broad.mit.edu	37	20	1433208	1433208	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr20:1433208G>A	ENST00000216879.4	-	7	1582	c.715C>T	c.(715-717)Cgg>Tgg	p.R239W	NSFL1C_ENST00000476071.1_Missense_Mutation_p.R241W|NSFL1C_ENST00000350991.4_Missense_Mutation_p.R241W|NSFL1C_ENST00000353088.2_Missense_Mutation_p.R208W|NSFL1C_ENST00000381658.4_Missense_Mutation_p.R128W|NSFL1C_ENST00000461211.1_5'UTR	NM_016143.4	NP_057227.2	Q9UNZ2	NSF1C_HUMAN	NSFL1 (p97) cofactor (p47)	239	SEP.					chromosome|Golgi stack|nucleus	lipid binding|protein binding			breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						TCCTCGTCCCGATGGTCCTCC	0.572000													55	144					0	0	0.00361006	0	0
DDB1	1642	broad.mit.edu	37	11	61084032	61084032	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr11:61084032C>T	ENST00000301764.7	-	11	1630	c.1233G>A	c.(1231-1233)tgG>tgA	p.W411*	DDB1_ENST00000450997.2_Intron|DDB1_ENST00000545930.1_5'UTR	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	411	Interaction with CDT1.|Interaction with CUL4A.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						ACCGCAGTGGCCATAATCCTG	0.532000								Nucleotide excision repair (NER)					29	104					0	0	0.00106085	0	0
ENPP4	22875	broad.mit.edu	37	6	46108043	46108043	+	Silent	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr6:46108043C>T	ENST00000321037.4	+	2	953	c.723C>T	c.(721-723)acC>acT	p.T241T		NM_014936.4	NP_055751.1	Q9Y6X5	ENPP4_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)	241						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						ATGGGATGACCCAGTGTTCTC	0.393000													18	62					0	0	0.000566183	0	0
EGFR	1956	broad.mit.edu	37	7	55221821	55221821	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr7:55221821G>A	ENST00000275493.2	+	7	1042	c.865G>A	c.(865-867)Gcc>Acc	p.A289T	EGFR_ENST00000344576.2_Missense_Mutation_p.A289T|EGFR_ENST00000442591.1_Missense_Mutation_p.A289T|EGFR_ENST00000342916.3_Missense_Mutation_p.A289T|EGFR_ENST00000454757.2_Missense_Mutation_p.A236T|EGFR_ENST00000455089.1_Missense_Mutation_p.A244T|EGFR_ENST00000420316.2_Missense_Mutation_p.A289T	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	289					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.A289T(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CAGCTTTGGTGCCACCTGCGT	0.592000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			12	51					0	0	0.000978159	0	0
GNAS	2778	broad.mit.edu	37	20	57429461	57429461	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr20:57429461C>G	ENST00000371100.4	+	1	1693	c.1141C>G	c.(1141-1143)Cct>Gct	p.P381A	GNAS_ENST00000306120.3_Silent_p.P317P|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000371099.2_Missense_Mutation_p.P381A|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000371102.4_Missense_Mutation_p.P381A|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000603534.1_Intron	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GTACGGATCCCCTGCCGCCGG	0.682000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)			3	5					0	0	6.4e-05	0	0
STUB1	10273	broad.mit.edu	37	16	732456	732456	+	Silent	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr16:732456C>T	ENST00000565677.1	+	7	1270	c.663C>T	c.(661-663)ttC>ttT	p.F221F	JMJD8_ENST00000454700.1_3'UTR|LA16c-313D11.11_ENST00000565813.1_RNA|JMJD8_ENST00000412368.2_3'UTR|JMJD8_ENST00000293882.4_3'UTR|STUB1_ENST00000219548.4_Silent_p.F293F|LA16c-313D11.10_ENST00000567405.2_RNA|STUB1_ENST00000564370.1_Silent_p.F221F			Q9UNE7	CHIP_HUMAN	STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase	293					cellular response to misfolded protein|DNA repair|misfolded or incompletely synthesized protein catabolic process|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein K63-linked ubiquitination|protein maturation|regulation of glucocorticoid metabolic process|ubiquitin-dependent SMAD protein catabolic process	cytoplasm|nuclear inclusion body|ubiquitin conjugating enzyme complex|ubiquitin ligase complex	Hsp70 protein binding|Hsp90 protein binding|kinase binding|misfolded protein binding|protein binding, bridging|protein homodimerization activity|SMAD binding|TPR domain binding|ubiquitin-ubiquitin ligase activity			endometrium(2)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	6		Hepatocellular(780;0.00335)				TTGACGCATTCATCTCTGAGA	0.607000													26	108					0	0	0.00465635	0	0
ATP6V0B	533	broad.mit.edu	37	1	44441472	44441472	+	Splice_Site	SNP	G	G	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr1:44441472G>T	ENST00000532642.1	+	2	165	c.67_splice	c.e2-1	p.G23_splice	ATP6V0B_ENST00000236067.4_Intron|ATP6V0B_ENST00000471859.2_Intron|ATP6V0B_ENST00000472174.2_Splice_Site_p.G23_splice|ATP6V0B_ENST00000472277.1_Intron			Q99437	VATO_HUMAN	ATPase, H+ transporting, lysosomal 21kDa, V0 subunit b	23					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|proton-transporting V-type ATPase, V0 domain|vacuolar membrane	hydrogen ion transmembrane transporter activity	p.G23V(1)		breast(2)|kidney(1)|large_intestine(3)|lung(3)	9	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				ACTGCTGCAGGAGTCTGCTAC	0.552000													49	171					4.32865e-36	1.30513e-35	0.00361006	1	0
CATSPERD	257062	broad.mit.edu	37	19	5733907	5733907	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr19:5733907C>T	ENST00000381624.3	+	5	378	c.317C>T	c.(316-318)tCg>tTg	p.S106L	CATSPERD_ENST00000381614.2_5'UTR	NM_152784.3	NP_689997.3	Q86XM0	TM146_HUMAN	catsper channel auxiliary subunit delta	106						integral to membrane											TTTGCTGGTTCGTTATTGCTG	0.313000													10	40					0	0	0.000442599	0	0
THRA	7067	broad.mit.edu	37	17	38245491	38245491	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr17:38245491G>C	ENST00000450525.2	+	9	1506	c.1015G>C	c.(1015-1017)Gag>Cag	p.E339Q	THRA_ENST00000394121.4_Missense_Mutation_p.E339Q|THRA_ENST00000584985.1_Missense_Mutation_p.E339Q|THRA_ENST00000264637.4_Missense_Mutation_p.E339Q|THRA_ENST00000546243.1_Missense_Mutation_p.E339Q	NM_199334.3	NP_955366.1	P10827	THA_HUMAN	thyroid hormone receptor, alpha	339	Ligand-binding.				negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter	cytosol|nucleoplasm	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Levothyroxine(DB00451)|Liothyronine(DB00279)	GGACAAGATCGAGAAGAGTCA	0.622000													23	116					0	0	0.00332997	0	0
PLA2R1	22925	broad.mit.edu	37	2	160832579	160832579	+	Splice_Site	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr2:160832579C>T	ENST00000283243.7	-	17	2801	c.2595_splice	c.e17+1	p.A865_splice	PLA2R1_ENST00000392771.1_Splice_Site_p.A865_splice	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	865	C-type lectin 5.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						GTTCAAGTACCGCTTTTATTT	0.413000													26	43					0	0	0.00127121	0	0
ZXDB	158586	broad.mit.edu	37	X	57618953	57618953	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chrX:57618953G>A	ENST00000374888.1	+	1	685	c.472G>A	c.(472-474)Gcc>Acc	p.A158T		NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	158					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						cccgatctccgcccccggccc	0.751000													6	15					0	0	0.00448238	0	0
SPDEF	25803	broad.mit.edu	37	6	34507170	34507170	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr6:34507170G>A	ENST00000374037.3	-	5	1100	c.686C>T	c.(685-687)tCg>tTg	p.S229L	SPDEF_ENST00000544425.1_Missense_Mutation_p.S213L	NM_012391.2	NP_036523.1	O95238	SPDEF_HUMAN	SAM pointed domain containing ETS transcription factor	229					negative regulation of survival gene product expression|negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.S229L(1)		central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)	15						CTCACTGGTCGAGGCTGGGTG	0.667000													22	109					0	0	0.00188189	0	0
TP53	7157	broad.mit.edu	37	17	7579533	7579533	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr17:7579533G>A	ENST00000420246.2	-	4	286	c.154C>T	c.(154-156)Caa>Taa	p.Q52*	TP53_ENST00000445888.2_Nonsense_Mutation_p.Q52*|TP53_ENST00000413465.2_Nonsense_Mutation_p.Q52*|TP53_ENST00000359597.4_Nonsense_Mutation_p.Q52*|TP53_ENST00000269305.4_Nonsense_Mutation_p.Q52*|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q52*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	52	Interaction with HRMT1L2.		Q -> H (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Q52*(12)|p.0?(8)|p.Q52>P*(1)|p.E51fs*59(1)|p.I50fs*4(1)|p.D48fs*55(1)|p.Q52fs*67(1)|p.Q52fs*6(1)|p.E51_Q52insX(1)|p.P13fs*18(1)|p.S33fs*23(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)		GTGAACCATTGTTCAATATCG	0.592000		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)			67	183					0	0	0.00361006	0	0
MAP3K10	4294	broad.mit.edu	37	19	40704316	40704316	+	Silent	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr19:40704316C>T	ENST00000253055.3	+	2	1005	c.717C>T	c.(715-717)ctC>ctT	p.L239L	MAP3K10_ENST00000593906.1_3'UTR	NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	239	Protein kinase.				activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						ACCACAACCTCGCAGACACGG	0.647000													14	44					0	0	0.00400662	0	0
METTL24	728464	broad.mit.edu	37	6	110567452	110567452	+	Silent	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr6:110567452G>A	ENST00000338882.4	-	5	797	c.798C>T	c.(796-798)ctC>ctT	p.L266L	CDC40_ENST00000368930.1_Intron|CDC40_ENST00000368933.1_Intron	NM_001123364.1	NP_001116836.1	Q5JXM2	CF186_HUMAN	methyltransferase like 24	266						extracellular region											GATCTGCCTTGAGAACGTCAA	0.373000													10	28					0	0	0.000442599	0	0
RXRB	6257	broad.mit.edu	37	6	33164363	33164363	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr6:33164363G>A	ENST00000374680.3	-	5	1052	c.841C>T	c.(841-843)Cgg>Tgg	p.R281W	RXRB_ENST00000413614.2_Missense_Mutation_p.R185W|RXRB_ENST00000374685.4_Missense_Mutation_p.R281W|RXRB_ENST00000544186.1_Missense_Mutation_p.R91W	NM_001270401.1|NM_021976.4	NP_001257330.1|NP_068811.1	P28702	RXRB_HUMAN	retinoid X receptor, beta	281	Hinge.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2)	15					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	TCCTTTCCCCGCTGACGCTCC	0.602000													11	67					0	0	0.000978159	0	0
MYL6	4637	broad.mit.edu	37	12	56552256	56552256	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr12:56552256G>A	ENST00000536128.1	+	1	111	c.71G>A	c.(70-72)cGa>cAa	p.R24Q	MYL6_ENST00000548400.1_Intron|MYL6_ENST00000547408.1_Intron|MYL6_ENST00000548580.1_Intron|RP11-603J24.18_ENST00000548571.1_RNA|MYL6_ENST00000548293.1_Intron|MYL6_ENST00000293422.5_Intron|MYL6_ENST00000549566.1_Missense_Mutation_p.R24Q|MYL6_ENST00000348108.4_Intron|MYL6_ENST00000549017.1_Intron|MYL6_ENST00000550697.1_Intron|MYL6_ENST00000551589.1_Intron|MYL6_ENST00000547649.1_Intron			P60660	MYL6_HUMAN	myosin, light chain 6, alkali, smooth muscle and non-muscle	0	EF-hand 1.				axon guidance|muscle filament sliding|skeletal muscle tissue development	cytosol|unconventional myosin complex	actin-dependent ATPase activity|calcium ion binding|motor activity|structural constituent of muscle			large_intestine(1)|lung(1)|ovary(1)|prostate(3)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(18;0.0979)			GGTGGGGGGCGAGGAGAAGGC	0.637000													6	18					0	0	0.00116845	0	0
UBR3	130507	broad.mit.edu	37	2	170917856	170917856	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr2:170917856C>T	ENST00000272793.5	+	35	4972	c.4922C>T	c.(4921-4923)tCc>tTc	p.S1641F	UBR3_ENST00000392631.1_Missense_Mutation_p.S462F|UBR3_ENST00000418381.1_Missense_Mutation_p.S1641F			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1641					sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						TCTCCTGAATCCATGGAAAAA	0.368000													45	77					0	0	0.00361006	0	0
KCNT2	343450	broad.mit.edu	37	1	196303052	196303052	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr1:196303052A>G	ENST00000367433.5	-	17	2023	c.1922T>C	c.(1921-1923)aTt>aCt	p.I641T	KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000367431.4_Missense_Mutation_p.I591T|KCNT2_ENST00000451324.2_Missense_Mutation_p.I252T|KCNT2_ENST00000294725.8_Missense_Mutation_p.I641T			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	641						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						ACATGTTTGAATCGATGATGT	0.403000													14	42					0	0	0.00244969	0	0
PCK2	5106	broad.mit.edu	37	14	24566131	24566131	+	Silent	SNP	C	C	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr14:24566131C>A	ENST00000216780.4	+	2	328	c.60C>A	c.(58-60)ggC>ggA	p.G20G	PCK2_ENST00000560657.1_3'UTR|PCK2_ENST00000545054.2_5'UTR|NRL_ENST00000561028.1_Intron|PCK2_ENST00000396973.4_Silent_p.G20G|PCK2_ENST00000561286.1_Intron|PCK2_ENST00000558096.1_5'UTR|PCK2_ENST00000559250.1_Silent_p.G32G	NM_004563.2	NP_004554.2	Q16822	PCKGM_HUMAN	phosphoenolpyruvate carboxykinase 2 (mitochondrial)	20					gluconeogenesis	mitochondrial matrix	GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(265;0.0184)		GCCCCTTGGGCTGGCCATCAT	0.567000													28	115					2.79863e-10	7.9861e-10	0.00465635	1	0
KAT5	10524	broad.mit.edu	37	11	65484420	65484420	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr11:65484420C>T	ENST00000341318.4	+	10	1465	c.1231C>T	c.(1231-1233)Cgc>Tgc	p.R411C	KAT5_ENST00000534650.1_Missense_Mutation_p.R167C|KAT5_ENST00000530446.1_Missense_Mutation_p.R359C|KAT5_ENST00000377046.3_Missense_Mutation_p.R378C|KAT5_ENST00000352980.4_Missense_Mutation_p.R326C	NM_182710.2	NP_874369.1	Q92993	KAT5_HUMAN	K(lysine) acetyltransferase 5	378					androgen receptor signaling pathway|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|double-strand break repair|interspecies interaction between organisms|negative regulation of interleukin-2 production|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nucleolus|perinuclear region of cytoplasm|Piccolo NuA4 histone acetyltransferase complex	androgen receptor binding|histone acetyltransferase activity|metal ion binding|repressing transcription factor binding|transcription coactivator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)	21						TCCCTACCAGCGCCGGGGCTA	0.592000													28	85					0	0	0.000878237	0	0
PDE8B	8622	broad.mit.edu	37	5	76645309	76645309	+	Silent	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr5:76645309C>T	ENST00000264917.5	+	8	987	c.942C>T	c.(940-942)ctC>ctT	p.L314L	PDE8B_ENST00000340978.3_Intron|PDE8B_ENST00000346042.3_Intron|PDE8B_ENST00000342343.4_Silent_p.L294L|PDE8B_ENST00000333194.4_Silent_p.L314L	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	314	PAS.				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		GAAAAGAACTCGCTGATCTGC	0.502000													22	68					0	0	0.00332997	0	0
KCNJ4	3761	broad.mit.edu	37	22	38823608	38823608	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr22:38823608C>T	ENST00000303592.3	-	2	788	c.530G>A	c.(529-531)cGg>cAg	p.R177Q		NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	IRK4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 4	177					synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding			endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					CTTCTTGGGCCGCGCCATCTT	0.642000													8	51					0	0	0.00307968	0	0
THOC2	57187	broad.mit.edu	37	X	122767863	122767863	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chrX:122767863C>T	ENST00000245838.8	-	20	2108	c.2077G>A	c.(2077-2079)Gag>Aag	p.E693K	THOC2_ENST00000491737.1_Missense_Mutation_p.E578K|THOC2_ENST00000355725.4_Missense_Mutation_p.E693K	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	693					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						GTCATTTCCTCTGTAATTTCT	0.333000													18	87					0	0	0.000958276	0	0
CLDN10	9071	broad.mit.edu	37	13	96205036	96205036	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr13:96205036C>T	ENST00000299339.2	+	1	58	c.29C>T	c.(28-30)gCc>gTc	p.A10V	CLDN10_ENST00000376873.3_Intron	NM_006984.4	NP_008915.1	P78369	CLD10_HUMAN	claudin 10	10					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	15	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.18)			GAGATCATCGCCTTCATGGTC	0.672000													13	18					0	0	0.00244969	0	0
KLC1	3831	broad.mit.edu	37	14	104142025	104142025	+	Splice_Site	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr14:104142025G>A	ENST00000389744.4	+	11	1580		c.e11-1		KLC1_ENST00000557450.1_Splice_Site|KLC1_ENST00000554280.1_Splice_Site|KLC1_ENST00000445352.4_Splice_Site|KLC1_ENST00000555836.1_Splice_Site|KLC1_ENST00000334553.6_Splice_Site|KLC1_ENST00000246489.7_Splice_Site|KLC1_ENST00000348520.6_Splice_Site|KLC1_ENST00000380038.3_Splice_Site|RP11-73M18.2_ENST00000472726.2_Splice_Site|KLC1_ENST00000452929.2_Splice_Site|KLC1_ENST00000347839.6_Splice_Site|KLC1_ENST00000553286.1_Splice_Site|KLC1_ENST00000557575.1_Splice_Site			Q07866	KLC1_HUMAN	kinesin light chain 1						blood coagulation|microtubule-based movement|stress granule disassembly	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding		KLC1/ALK(2)	NS(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	12		Melanoma(154;0.155)|all_epithelial(191;0.19)				TTATAATTTAGGGAAAGCAAA	0.328000													9	39					0	0	0.000978159	0	0
C1orf172	126695	broad.mit.edu	37	1	27277199	27277199	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr1:27277199C>A	ENST00000320567.5	-	3	1176	c.1088G>T	c.(1087-1089)cGg>cTg	p.R363L		NM_152365.2	NP_689578.2	Q8NAX2	CA172_HUMAN	chromosome 1 open reading frame 172	363										NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		CCTCAGCTTCCGGGCGATGGC	0.597000													33	120					5.71845e-15	1.65545e-14	0.00111076	1	0
ANKS4B	257629	broad.mit.edu	37	16	21262063	21262063	+	Silent	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr16:21262063G>A	ENST00000311620.5	+	2	1249	c.1176G>A	c.(1174-1176)agG>agA	p.R392R		NM_145865.2	NP_665872.2	Q8N8V4	ANS4B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 4B	392	SAM.									NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20				GBM - Glioblastoma multiforme(48;0.0565)		TGGGTCCCAGGAAGAAAGTTC	0.512000													26	99					0	0	0.00465635	0	0
KMT2D	8085	broad.mit.edu	37	12	49420049	49420049	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr12:49420049C>T	ENST00000301067.7	-	48	15699	c.15700G>A	c.(15700-15702)Gag>Aag	p.E5234K		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		CCGTTGTTCTCACCAATAGAA	0.597000													25	65					0	0	0.00332997	0	0
TTC37	9652	broad.mit.edu	37	5	94830705	94830705	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr5:94830705C>T	ENST00000358746.2	-	35	3951	c.3653G>A	c.(3652-3654)gGa>gAa	p.G1218E		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	1218							binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						AGCCACATTTCCTGCTACAAC	0.303000													14	77					0	0	0.00316338	0	0
ENTPD7	57089	broad.mit.edu	37	10	101458317	101458317	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr10:101458317G>A	ENST00000370489.4	+	10	1215	c.1037G>A	c.(1036-1038)aGt>aAt	p.S346N		NM_020354.3	NP_065087.1	Q9NQZ7	ENTP7_HUMAN	ectonucleoside triphosphate diphosphohydrolase 7	346						cytoplasmic vesicle membrane|integral to membrane	hydrolase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)		ACAGGTCTGAGTCCCGACAAT	0.473000													15	43					0	0	0.00074312	0	0
NEUROD2	4761	broad.mit.edu	37	17	37761719	37761719	+	Silent	SNP	C	C	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr17:37761719C>A	ENST00000302584.4	-	2	1354	c.1134G>T	c.(1132-1134)gcG>gcT	p.A378A		NM_006160.3	NP_006151.3	Q15784	NDF2_HUMAN	neuronal differentiation 2	378					cellular response to calcium ion|cellular response to electrical stimulus|cerebellar cortex development|negative regulation of synapse maturation|positive regulation of calcium-mediated signaling|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of synapse maturation|positive regulation of synaptic plasticity|protein ubiquitination|regulation of transcription from RNA polymerase II promoter	nucleus	E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	8	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Lung(15;0.00549)|LUAD - Lung adenocarcinoma(14;0.0664)			TATGAAAAAACGCATTGAGCT	0.612000													6	15					0.00198382	0.00528357	0.00198382	1	0
LAMC3	10319	broad.mit.edu	37	9	133932455	133932455	+	Silent	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr9:133932455G>A	ENST00000361069.4	+	12	2212	c.2079G>A	c.(2077-2079)agG>agA	p.R693R	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	693	Laminin EGF-like 5; second part.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		GATACAAGAGGGAGATGCCAC	0.612000													23	67					0	0	0.00395357	0	0
PRG3	10394	broad.mit.edu	37	11	57145249	57145249	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr11:57145249G>A	ENST00000287143.2	-	5	677	c.568C>T	c.(568-570)Cca>Tca	p.P190S		NM_006093.3	NP_006084.2	Q9Y2Y8	PRG3_HUMAN	proteoglycan 3	190	C-type lectin.				basophil activation|histamine biosynthetic process|immune response|leukotriene biosynthetic process|negative regulation of translation|neutrophil activation|positive regulation of interleukin-8 biosynthetic process|superoxide anion generation		sugar binding			large_intestine(3)|lung(5)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	13						GGTTGCCCTGGGGACCAGTAA	0.557000													12	34					0	0	0.00136819	0	0
COL14A1	7373	broad.mit.edu	37	8	121267542	121267542	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr8:121267542G>A	ENST00000297848.3	+	23	3086	c.2816G>A	c.(2815-2817)tGg>tAg	p.W939*	COL14A1_ENST00000247781.3_Nonsense_Mutation_p.W844*|COL14A1_ENST00000309791.4_Nonsense_Mutation_p.W939*|COL14A1_ENST00000432943.2_3'UTR	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	939	Fibronectin type-III 8.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TGTGCCCACTGGCAGGTACAT	0.438000													36	96					0	0	0.00375469	0	0
OBSCN	84033	broad.mit.edu	37	1	228468382	228468382	+	Silent	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr1:228468382C>T	ENST00000570156.2	+	35	9443	c.9369C>T	c.(9367-9369)ttC>ttT	p.F3123F	OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Silent_p.F2694F|OBSCN_ENST00000422127.1_Silent_p.F2694F|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000359599.6_Silent_p.F1541F	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2124	Ig-like 31.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGTATGACTTCCTGCACACGG	0.682000													28	102					0	0	0.00465635	0	0
MYO3B	140469	broad.mit.edu	37	2	171243784	171243784	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr2:171243784C>G	ENST00000334231.6	+	14	1570	c.1570C>G	c.(1570-1572)Ctc>Gtc	p.L524V	MYO3B_ENST00000408978.4_Missense_Mutation_p.L515V|MYO3B_ENST00000409044.3_Missense_Mutation_p.L515V|MYO3B_ENST00000602629.1_3'UTR			Q8WXR4	MYO3B_HUMAN	myosin IIIB	515	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						CTCTGAATATCTCCTGGAAAA	0.413000													24	57					0	0	0.00127121	0	0
LAMC2	3918	broad.mit.edu	37	1	183177126	183177126	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr1:183177126C>A	ENST00000264144.4	+	2	255	c.190C>A	c.(190-192)Cac>Aac	p.H64N	LAMC2_ENST00000493293.1_Missense_Mutation_p.H64N	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	64	Laminin EGF-like 1.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						TGATGGCATTCACTGCGAGAA	0.483000													100	254					4.70724e-39	1.43007e-38	0.00361006	1	0
ADRB3	155	broad.mit.edu	37	8	37823854	37823854	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr8:37823854G>A	ENST00000345060.3	-	1	629	c.134C>T	c.(133-135)gCg>gTg	p.A45V		NM_000025.2	NP_000016.1	P13945	ADRB3_HUMAN	adrenoceptor beta 3	45					carbohydrate metabolic process|energy reserve metabolic process|positive regulation of MAPKKK cascade	integral to plasma membrane|receptor complex	beta3-adrenergic receptor activity|protein homodimerization activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)	9	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)		Norepinephrine(DB00368)|Pindolol(DB00960)|Propranolol(DB00571)	CACCGCCAGCGCCAGCAGGGC	0.697000													8	22					0	0	0.00307968	0	0
OR5L2	26338	broad.mit.edu	37	11	55594959	55594959	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr11:55594959G>A	ENST00000378397.1	+	1	265	c.265G>A	c.(265-267)Gac>Aac	p.D89N		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	89					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				CTTTAACAAGGACAAAGCCAT	0.473000										HNSCC(27;0.073)			53	68					0	0	0.00361006	0	0
NDUFV3	4731	broad.mit.edu	37	21	44324169	44324169	+	Silent	SNP	G	G	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr21:44324169G>T	ENST00000354250.2	+	3	1116	c.1047G>T	c.(1045-1047)ctG>ctT	p.L349L	NDUFV3_ENST00000340344.3_Intron|NDUFV3_ENST00000460259.1_3'UTR	NM_021075.3	NP_066553.3	P56181	NDUV3_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa	54					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I|nucleus	NADH dehydrogenase (ubiquinone) activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	10				STAD - Stomach adenocarcinoma(101;0.0606)	NADH(DB00157)	CCCCTCCCCTGCCCAGAAAGG	0.617000													13	48					9.31168e-06	2.53062e-05	0.00185496	1	0
ALDH1A3	220	broad.mit.edu	37	15	101448628	101448628	+	Silent	SNP	C	C	T	rs145659258		TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr15:101448628C>T	ENST00000329841.5	+	12	1939	c.1407C>T	c.(1405-1407)aaC>aaT	p.N469N	RP11-66B24.4_ENST00000560351.1_RNA|ALDH1A3_ENST00000346623.6_Silent_p.N362N	NM_000693.2	NP_000684.2	P47895	AL1A3_HUMAN	aldehyde dehydrogenase 1 family, member A3	469					retinal metabolic process	cytoplasm	aldehyde dehydrogenase|protein homodimerization activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		NADH(DB00157)|Vitamin A(DB00162)	ACTGCTACAACGCCCTCTATG	0.512000													10	37					0	0	0.000442599	0	0
HFM1	164045	broad.mit.edu	37	1	91845680	91845680	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr1:91845680C>A	ENST00000370425.3	-	8	1085	c.987G>T	c.(985-987)ttG>ttT	p.L329F	HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000370424.3_Missense_Mutation_p.L8F	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	329	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TTTTAATATTCAACCATGGCA	0.284000													9	55					0.000274275	0.000735389	0.00448238	1	0
SRPX	8406	broad.mit.edu	37	X	38009042	38009042	+	Silent	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chrX:38009042G>A	ENST00000378533.3	-	10	1423	c.1317C>T	c.(1315-1317)ttC>ttT	p.F439F	SRPX_ENST00000544439.1_Silent_p.F419F|SRPX_ENST00000538295.1_3'UTR|SRPX_ENST00000343800.6_Silent_p.F426F|SRPX_ENST00000479015.1_5'UTR|TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000432886.2_Silent_p.F380F	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN	sushi-repeat containing protein, X-linked	439					cell adhesion	cell surface|membrane				autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						CAATCAGGTTGAACAGGGCCA	0.498000													18	48					0	0	0.00074312	0	0
CSGALNACT1	55790	broad.mit.edu	37	8	19362961	19362961	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr8:19362961C>A	ENST00000454498.2	-	4	1398	c.385G>T	c.(385-387)Gac>Tac	p.D129Y	CSGALNACT1_ENST00000522854.1_Missense_Mutation_p.D129Y|CSGALNACT1_ENST00000332246.6_Missense_Mutation_p.D129Y|CSGALNACT1_ENST00000311540.4_Missense_Mutation_p.D129Y|CSGALNACT1_ENST00000544602.1_Missense_Mutation_p.D129Y	NM_001130518.1	NP_001123990.1	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 1	129					anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process	Golgi cisterna membrane|integral to Golgi membrane|soluble fraction	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				Colorectal(111;0.182)		TCTGCCTTGTCCACCTGCGAG	0.597000													25	73					3.65163e-15	1.06484e-14	0.00106085	1	0
CRB1	23418	broad.mit.edu	37	1	197390489	197390489	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr1:197390489G>A	ENST00000367400.3	+	6	1666	c.1531G>A	c.(1531-1533)Gcc>Acc	p.A511T	CRB1_ENST00000476483.1_3'UTR|CRB1_ENST00000543483.1_Missense_Mutation_p.A210T|CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000367399.2_Missense_Mutation_p.A399T|CRB1_ENST00000544212.1_5'UTR|CRB1_ENST00000538660.1_Missense_Mutation_p.A511T|CRB1_ENST00000535699.1_Missense_Mutation_p.A442T	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	511	Laminin G-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TTGTAACATAGCCCTCAGGTT	0.488000													30	61					0	0	0.00178596	0	0
RSPH4A	345895	broad.mit.edu	37	6	116938138	116938138	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr6:116938138C>T	ENST00000229554.5	+	1	489	c.352C>T	c.(352-354)Cct>Tct	p.P118S	RSPH4A_ENST00000368581.4_Missense_Mutation_p.P118S|RSPH4A_ENST00000368580.4_Missense_Mutation_p.P118S	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A (Chlamydomonas)	118					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke				breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						GAGTGTGATTCCTGAAGCTGG	0.537000									Kartagener syndrome				23	78					0	0	0.00278032	0	0
LARP6	55323	broad.mit.edu	37	15	71124454	71124454	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr15:71124454C>A	ENST00000299213.8	-	3	1483	c.1413G>T	c.(1411-1413)ttG>ttT	p.L471F		NM_018357.2	NP_060827.2	Q9BRS8	LARP6_HUMAN	La ribonucleoprotein domain family, member 6	471					RNA processing	Golgi apparatus|nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	19						GACCCCTGGGCAACCTCAGCA	0.547000													25	91					2.41591e-17	7.12293e-17	0.00465635	1	0
SCAND3	114821	broad.mit.edu	37	6	28540086	28540086	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr6:28540086G>A	ENST00000452236.2	-	4	4197	c.3580C>T	c.(3580-3582)Cca>Tca	p.P1194S		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	1194					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						tcttttgatggaaaataaaat	0.289000													4	20					0	0	0.00024832	0	0
MAP4K3	8491	broad.mit.edu	37	2	39494353	39494353	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr2:39494353T>C	ENST00000263881.3	-	27	2333	c.2009A>G	c.(2008-2010)aAa>aGa	p.K670R	MAP4K3_ENST00000341681.5_Missense_Mutation_p.K649R|MAP4K3_ENST00000536018.1_Missense_Mutation_p.K223R|MAP4K3_ENST00000437545.1_Missense_Mutation_p.K586R	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	670	CNH.				JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				CTGGCACCATTTGGTTTCAGG	0.368000													33	44					0	0	0.00428921	0	0
SLC8A3	6547	broad.mit.edu	37	14	70634140	70634140	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr14:70634140G>A	ENST00000381269.2	-	2	1753	c.1000C>T	c.(1000-1002)Cag>Tag	p.Q334*	SLC8A3_ENST00000528359.1_Nonsense_Mutation_p.Q334*|SLC8A3_ENST00000357887.3_Nonsense_Mutation_p.Q334*|SLC8A3_ENST00000534137.1_Nonsense_Mutation_p.Q334*|SLC8A3_ENST00000356921.2_Nonsense_Mutation_p.Q334*	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	334					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		TCCACCAGCTGATCTAAGTCC	0.522000													25	61					0	0	0.000878237	0	0
PSME3	10197	broad.mit.edu	37	17	40986892	40986892	+	Splice_Site	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr17:40986892G>A	ENST00000293362.3	+	4	403	c.243_splice	c.e4+1	p.G81_splice	PSME3_ENST00000441946.2_Splice_Site_p.G92_splice|PSME3_ENST00000545225.1_Splice_Site_p.G20_splice|PSME3_ENST00000590720.1_Splice_Site_p.G81_splice|PSME3_ENST00000592169.1_Intron|PSME3_ENST00000541124.1_3'UTR	NM_005789.3|NM_176863.2	NP_005780.2|NP_789839.1	P61289	PSME3_HUMAN	proteasome (prosome, macropain) activator subunit 3 (PA28 gamma; Ki)	81					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of proteasomal protein catabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome activator complex	endopeptidase activator activity|identical protein binding|MDM2 binding|p53 binding			NS(1)|cervix(1)|large_intestine(3)|lung(1)	6		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		GGACTGGATGGTGTAAGTGTC	0.443000													14	50					0	0	0.00185496	0	0
CMC4	100272147	broad.mit.edu	37	X	154292277	154292277	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chrX:154292277G>A	ENST00000369484.3	-	2	700	c.22C>T	c.(22-24)Cag>Tag	p.Q8*	CMC4_ENST00000369479.1_Nonsense_Mutation_p.Q8*	NM_001018024.2	NP_001018024.1			C-x(9)-C motif containing 4																		GCTTGCTTCTGGCACGGATCC	0.328000													32	151					0	0	0.00375469	0	0
CST1	1469	broad.mit.edu	37	20	23731395	23731395	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr20:23731395C>T	ENST00000304749.2	-	1	179	c.109G>A	c.(109-111)Gca>Aca	p.A37T	CST1_ENST00000398402.1_Missense_Mutation_p.A37T	NM_001898.2	NP_001889.2	P01037	CYTN_HUMAN	cystatin SN	37						extracellular region	cysteine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1)	13	Lung NSC(19;0.0676)|all_lung(19;0.148)					TTGAGGTCTGCGTTATAGATG	0.572000													10	50					0	0	0.00136819	0	0
ALDH1A3	220	broad.mit.edu	37	15	101447334	101447334	+	Silent	SNP	G	G	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr15:101447334G>T	ENST00000329841.5	+	11	1774	c.1242G>T	c.(1240-1242)ggG>ggT	p.G414G	RP11-66B24.4_ENST00000560351.1_RNA|ALDH1A3_ENST00000346623.6_Silent_p.G307G	NM_000693.2	NP_000684.2	P47895	AL1A3_HUMAN	aldehyde dehydrogenase 1 family, member A3	414					retinal metabolic process	cytoplasm	aldehyde dehydrogenase|protein homodimerization activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		NADH(DB00157)|Vitamin A(DB00162)	AGATTTTCGGGCCAGTGCAAC	0.398000													10	42					0.000442599	0.00118273	0.000442599	1	0
PTPRC	5788	broad.mit.edu	37	1	198713291	198713291	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr1:198713291G>A	ENST00000367376.2	+	26	2971	c.2800G>A	c.(2800-2802)Gat>Aat	p.D934N	PTPRC_ENST00000352140.3_Missense_Mutation_p.D886N|PTPRC_ENST00000442510.2_Missense_Mutation_p.D936N|PTPRC_ENST00000348564.6_Missense_Mutation_p.D775N|PTPRC_ENST00000594404.1_Missense_Mutation_p.D773N	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	934					axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						GAAGAAAAGGGATCCACCCAG	0.373000													6	20					0	0	0.00307968	0	0
RAI1	10743	broad.mit.edu	37	17	17700989	17700989	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr17:17700989G>A	ENST00000353383.1	+	3	5196	c.4727G>A	c.(4726-4728)cGc>cAc	p.R1576H	RAI1_ENST00000261641.6_Missense_Mutation_p.R1576H	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1576						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		CCTGAAATCCGCCTCAAGTAC	0.637000													33	104					0	0	0.00209593	0	0
MXD3	83463	broad.mit.edu	37	5	176734658	176734658	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr5:176734658G>A	ENST00000423571.2	-	5	693	c.629C>T	c.(628-630)cCg>cTg	p.P210L	MXD3_ENST00000427908.2_Intron|MXD3_ENST00000513063.1_Silent_p.A184A|MXD3_ENST00000439742.2_Silent_p.A184A			Q9BW11	MAD3_HUMAN	MAX dimerization protein 3	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding					all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCAGCAGCTCGGCCTCACCCC	0.701000													18	59					0	0	0.000958276	0	0
AIFM3	150209	broad.mit.edu	37	22	21332000	21332000	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr22:21332000G>A	ENST00000399167.2	+	15	1534	c.1294G>A	c.(1294-1296)Gcc>Acc	p.A432T	AIFM3_ENST00000333607.6_Missense_Mutation_p.A432T|AIFM3_ENST00000465606.1_3'UTR|AIFM3_ENST00000335375.5_Missense_Mutation_p.A420T|AIFM3_ENST00000399163.2_Missense_Mutation_p.A432T|AIFM3_ENST00000440238.2_Missense_Mutation_p.A432T|AIFM3_ENST00000405089.1_Missense_Mutation_p.A438T	NM_144704.2	NP_653305.1			apoptosis-inducing factor, mitochondrion-associated, 3											breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			TGCAGTGCCCGCCACAGGCTT	0.617000													25	53					0	0	0.001512	0	0
EPHA3	2042	broad.mit.edu	37	3	89448639	89448639	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr3:89448639T>G	ENST00000452448.2	+	7	1690	c.1603T>G	c.(1603-1605)Tat>Gat	p.Y535D	EPHA3_ENST00000494014.1_Intron|EPHA3_ENST00000336596.2_Intron	NM_182644.2	NP_872585.1	P29320	EPHA3_HUMAN	EPH receptor A3	0						extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		CTGTATGTATTATTTCAATGC	0.408000										TSP Lung(6;0.00050)			9	21					0	0	0.000442599	0	0
LAMA4	3910	broad.mit.edu	37	6	112508752	112508752	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr6:112508752A>G	ENST00000230538.7	-	8	1263	c.866T>C	c.(865-867)cTc>cCc	p.L289P	LAMA4_ENST00000522006.1_Missense_Mutation_p.L282P|LAMA4_ENST00000424408.2_Missense_Mutation_p.L282P|LAMA4_ENST00000389463.4_Missense_Mutation_p.L282P	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	289	Domain II and I.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		CTCGATGGAGAGCGCTGCTAA	0.527000													10	33					0	0	0.00074312	0	0
ZBTB40	9923	broad.mit.edu	37	1	22816681	22816681	+	Silent	SNP	G	G	A	rs138737436		TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr1:22816681G>A	ENST00000404138.1	+	3	751	c.240G>A	c.(238-240)acG>acA	p.T80T	ZBTB40_ENST00000374651.4_Silent_p.T80T|ZBTB40_ENST00000375647.4_Silent_p.T80T	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	80	BTB.				bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		TGATGTACACGGGCAAACTAC	0.463000													9	60					0	0	0.000442599	0	0
LOC101927209	101927209	broad.mit.edu	37	1	142713944	142713944	+	RNA	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr1:142713944C>T	ENST00000369381.2	-	0	661																											TGATTACCTCCGAAGTTAAAG	0.308000													6	25					0	0	0.00198382	0	0
ANKRD13A	88455	broad.mit.edu	37	12	110474131	110474131	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr12:110474131G>C	ENST00000261739.4	+	14	1741	c.1575G>C	c.(1573-1575)gaG>gaC	p.E525D	C12orf76_ENST00000546651.2_Intron	NM_033121.1	NP_149112.1	Q8IZ07	AN13A_HUMAN	ankyrin repeat domain 13A	525										endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(8)|lung(3)|urinary_tract(1)	16						CCCAGTATGAGAGGTGATTGA	0.517000													28	105					0	0	0.00127121	0	0
GPR37L1	9283	broad.mit.edu	37	1	202097163	202097163	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr1:202097163C>T	ENST00000367282.4	+	2	1031	c.925C>T	c.(925-927)Cgc>Tgc	p.R309C		NM_004767.3	NP_004758.3	O60883	ETBR2_HUMAN	G protein-coupled receptor 37 like 1	309						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	18						CCAGAACGCCCGCATGTGGTG	0.612000													25	64					0	0	0.00395357	0	0
SH2D4A	63898	broad.mit.edu	37	8	19231062	19231062	+	Silent	SNP	A	A	G			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr8:19231062A>G	ENST00000265807.3	+	8	1350	c.939A>G	c.(937-939)acA>acG	p.T313T	SH2D4A_ENST00000519207.1_Silent_p.T313T|SH2D4A_ENST00000518040.1_Silent_p.T268T	NM_001174160.1|NM_022071.3	NP_001167631.1|NP_071354.2	Q9H788	SH24A_HUMAN	SH2 domain containing 4A	313						cytoplasm|nucleus	protein binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|stomach(1)	16				Colorectal(111;0.0732)		TGGTGAGGACACTGTCCAGCT	0.408000													10	28					0	0	0.000442599	0	0
SPATA25	128497	broad.mit.edu	37	20	44515635	44515635	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr20:44515635G>A	ENST00000372519.3	-	2	249	c.205C>T	c.(205-207)Caa>Taa	p.Q69*		NM_080608.3	NP_542175.1	Q9BR10	CT165_HUMAN	spermatogenesis associated 25	69						integral to membrane											CCCCTGGCTTGTGGCATTGCC	0.637000													45	170					0	0	0.00285205	0	0
GPAM	57678	broad.mit.edu	37	10	113933472	113933472	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr10:113933472G>A	ENST00000348367.4	-	7	742	c.545C>T	c.(544-546)tCa>tTa	p.S182L	GPAM_ENST00000423155.1_Missense_Mutation_p.S182L|GPAM_ENST00000369425.1_Missense_Mutation_p.S182L			Q9HCL2	GPAT1_HUMAN	glycerol-3-phosphate acyltransferase, mitochondrial	182					phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		CATTGCCGGTGAGACAGTGGC	0.403000													19	47					0	0	0.00074312	0	0
MATN2	4147	broad.mit.edu	37	8	99039681	99039681	+	Silent	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr8:99039681C>T	ENST00000254898.5	+	14	2211	c.1980C>T	c.(1978-1980)atC>atT	p.I660I	MATN2_ENST00000522025.2_Silent_p.I376I|MATN2_ENST00000521689.1_Silent_p.I660I|MATN2_ENST00000520016.1_Silent_p.I660I|RPL30_ENST00000518164.1_Intron|MATN2_ENST00000524308.1_Silent_p.I619I	NM_002380.3|NM_030583.2	NP_002371.3|NP_085072.2	O00339	MATN2_HUMAN	matrilin 2	660	VWFA 2.					proteinaceous extracellular matrix	calcium ion binding	p.I660I(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			TCTTTGTGATCGATGGATCCA	0.403000													26	85					0	0	0.001512	0	0
SYNJ1	8867	broad.mit.edu	37	21	34011425	34011425	+	Silent	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr21:34011425G>A	ENST00000382499.2	-	31	3824	c.3825C>T	c.(3823-3825)ttC>ttT	p.F1275F	SYNJ1_ENST00000433931.2_Silent_p.F1275F|SYNJ1_ENST00000382491.3_Silent_p.F1189F|SYNJ1_ENST00000357345.3_Silent_p.F1220F|SYNJ1_ENST00000322229.7_Silent_p.F1236F	NM_203446.2	NP_982271.2	O43426	SYNJ1_HUMAN	synaptojanin 1	1236	Pro-rich.						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						GTTCAGGAAGGAAAGTTGAAC	0.453000													22	88					0	0	0.00188189	0	0
ZNF629	23361	broad.mit.edu	37	16	30793311	30793311	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr16:30793311G>A	ENST00000262525.4	-	3	2545	c.2338C>T	c.(2338-2340)Cgc>Tgc	p.R780C		NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	780					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			AGGGCCACGCGGTCGAGGAAG	0.647000													44	145					0	0	0.00361006	0	0
KCTD4	386618	broad.mit.edu	37	13	45768657	45768657	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr13:45768657C>T	ENST00000405872.1	-	2	449	c.46G>A	c.(46-48)Ggg>Agg	p.G16R	KCTD4_ENST00000379108.1_Missense_Mutation_p.G16R|GTF2F2_ENST00000340473.6_Intron	NM_198404.2	NP_940686.2	Q8WVF5	KCTD4_HUMAN	potassium channel tetramerization domain containing 4	16						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|endometrium(1)|large_intestine(2)|lung(4)	8		Lung NSC(96;6.55e-05)|Breast(139;0.00378)|Prostate(109;0.00438)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000249)|BRCA - Breast invasive adenocarcinoma(63;0.207)		TTGTGTTTCCCTTCATACTCC	0.353000													40	121					0	0	0.00128727	0	0
BTN2A2	10385	broad.mit.edu	37	6	26388333	26388333	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr6:26388333C>T	ENST00000356709.4	+	4	646	c.535C>T	c.(535-537)Ctc>Ttc	p.L179F	BTN2A2_ENST00000352867.2_Missense_Mutation_p.L63F|BTN2A2_ENST00000432533.2_Intron|BTN2A2_ENST00000416795.2_Missense_Mutation_p.L179F|BTN2A2_ENST00000482536.1_Intron|BTN2A2_ENST00000469230.1_Missense_Mutation_p.L179F	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2	179	Ig-like C2-type.				negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						CCCAGAGCCCCTCACAGTGTG	0.582000													16	60					0	0	0.00400662	0	0
NFKBIA	4792	broad.mit.edu	37	14	35872923	35872923	+	Silent	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr14:35872923G>A	ENST00000216797.5	-	2	410	c.309C>T	c.(307-309)ttC>ttT	p.F103F	NFKBIA_ENST00000557389.1_Silent_p.F13F|NFKBIA_ENST00000557100.1_5'UTR|NFKBIA_ENST00000557140.1_Silent_p.F103F	NM_020529.2	NP_065390.1	P25963	IKBA_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha	103					anti-apoptosis|apoptosis|cellular response to cold|cytoplasmic sequestering of NF-kappaB|innate immune response|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of DNA binding|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|I-kappaB/NF-kappaB complex|nucleus|plasma membrane	identical protein binding|NF-kappaB binding|nuclear localization sequence binding|ubiquitin protein ligase binding			breast(3)|endometrium(1)|large_intestine(2)|liver(1)	7	Breast(36;0.0484)|Hepatocellular(127;0.158)		Lung(238;9.25e-06)|LUAD - Lung adenocarcinoma(48;1.53e-05)|Epithelial(34;0.00314)|all cancers(34;0.00891)	GBM - Glioblastoma multiforme(112;0.0222)		GGAAGTTGAGGAAGGCCAGGT	0.582000													6	28					0	0	0.00116845	0	0
GABRA4	2557	broad.mit.edu	37	4	46930480	46930480	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr4:46930480C>T	ENST00000264318.3	-	9	2409	c.1427G>A	c.(1426-1428)cGt>cAt	p.R476H		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	476					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	AAACACGTGACGAGTAGAAGC	0.483000													25	84					0	0	0.00278032	0	0
GPIHBP1	338328	broad.mit.edu	37	8	144297245	144297245	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr8:144297245G>A	ENST00000330824.2	+	4	482	c.407G>A	c.(406-408)tGc>tAc	p.C136Y		NM_178172.3	NP_835466.1	Q8IV16	HDBP1_HUMAN	glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1	136	UPAR/Ly6.				cholesterol homeostasis|intracellular protein transport|positive regulation of chylomicron remnant clearance|positive regulation of lipoprotein lipase activity|protein import|protein localization at cell surface|protein stabilization|response to heparin|triglyceride homeostasis	anchored to external side of plasma membrane|apical plasma membrane|basolateral plasma membrane|high-density lipoprotein particle|integral to membrane|intracellular	apolipoprotein binding|chylomicron binding|lipase binding|lipid binding|protein transmembrane transporter activity			lung(2)	2	all_cancers(97;6.49e-11)|all_epithelial(106;2.77e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					TCCAGCCTGTGCAATGTCCCA	0.672000													22	65					0	0	0.00332997	0	0
SYVN1	84447	broad.mit.edu	37	11	64898172	64898172	+	Silent	SNP	A	A	G			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr11:64898172A>G	ENST00000526060.1	-	11	1257	c.1065T>C	c.(1063-1065)ccT>ccC	p.P355P	SYVN1_ENST00000377190.3_Silent_p.P355P|SYVN1_ENST00000307289.6_Silent_p.P304P|SYVN1_ENST00000294256.8_Silent_p.P355P			Q86TM6	SYVN1_HUMAN	synovial apoptosis inhibitor 1, synoviolin	355	Pro-rich.				ER-associated protein catabolic process|response to stress	endoplasmic reticulum membrane|integral to membrane|nucleus	acid-amino acid ligase activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						GGTGGGGGGCAGGGGGTGGCC	0.672000													3	19					0	0	0.00198382	0	0
ZNF48	197407	broad.mit.edu	37	16	30409298	30409298	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr16:30409298C>T	ENST00000320159.2	+	2	1103	c.727C>T	c.(727-729)Cgg>Tgg	p.R243W		NM_001214906.1|NM_001214907.1|NM_001214909.1|NM_152652.2	NP_001201835.1|NP_001201836.1|NP_001201838.1|NP_689865.2	Q96MX3	ZNF48_HUMAN	zinc finger protein 48	243					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R243W(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1)	21						GCGGACACACCGGGGGGAGCA	0.647000													10	61					0	0	0.000978159	0	0
TLR6	10333	broad.mit.edu	37	4	38828928	38828928	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr4:38828928G>C	ENST00000436693.2	-	2	2286	c.2167C>G	c.(2167-2169)Ctc>Gtc	p.L723V	TLR6_ENST00000381950.1_Missense_Mutation_p.L723V	NM_006068.4	NP_006059.2	Q9Y2C9	TLR6_HUMAN	toll-like receptor 6	723	TIR.				activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCATGAAAGAGATTGTGATGG	0.423000													54	132					0	0	0.00361006	0	0
A2ML1	144568	broad.mit.edu	37	12	9021141	9021141	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr12:9021141G>A	ENST00000299698.7	+	32	4250	c.4070G>A	c.(4069-4071)gGg>gAg	p.G1357E	A2ML1_ENST00000539547.1_Missense_Mutation_p.G866E	NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	1201						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						AGTTATGTGGGGAGCCGTAGC	0.463000													40	97					0	0	0.00195071	0	0
PDAP1	11333	broad.mit.edu	37	7	99001128	99001128	+	Splice_Site	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr7:99001128C>T	ENST00000350498.3	-	3	386	c.105_splice	c.e3-1	p.E36_splice		NM_014891.6	NP_055706.1	Q13442	HAP28_HUMAN	PDGFA associated protein 1	36					cell proliferation|signal transduction					breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2)|prostate(1)|skin(1)	9	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)		Becaplermin(DB00102)	TCCTCTTCTTCCTGTTTCAGA	0.453000													18	72					0	0	0.000958276	0	0
KIAA1199	57214	broad.mit.edu	37	15	81230170	81230170	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr15:81230170G>A	ENST00000394685.3	+	25	3676	c.3257G>A	c.(3256-3258)cGa>cAa	p.R1086Q	KIAA1199_ENST00000220244.3_Missense_Mutation_p.R1086Q|KIAA1199_ENST00000356249.5_Missense_Mutation_p.R1086Q|RP11-351M8.2_ENST00000560873.1_RNA			Q8WUJ3	K1199_HUMAN	KIAA1199	1086										breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TGCTACCCGCGAGGCACCACA	0.572000													37	91					0	0	0.00375469	0	0
GIGYF1	64599	broad.mit.edu	37	7	100280033	100280033	+	Silent	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr7:100280033C>T	ENST00000275732.5	-	21	3882	c.2673G>A	c.(2671-2673)ctG>ctA	p.L891L		NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	891										central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					TGCCCTGCAGCAGCTTCAGCA	0.637000													8	42					0	0	0.00307968	0	0
PRB3	5544	broad.mit.edu	37	12	11422583	11422583	+	RNA	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr12:11422583C>T	ENST00000381842.3	-	0	58				PRB3_ENST00000538488.1_RNA|PRB3_ENST00000440870.3_RNA|PRB3_ENST00000279573.6_RNA	NM_006249.4	NP_006240.4	Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3							extracellular region	Gram-negative bacterial cell surface binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			GCAGGGCCACCGACAGCAGAA	0.532000													18	69					0	0	0.000958276	0	0
CTH	1491	broad.mit.edu	37	1	70900825	70900825	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr1:70900825G>C	ENST00000411986.2	+	9	1119	c.921G>C	c.(919-921)gaG>gaC	p.E307D	CTH_ENST00000370938.3_Missense_Mutation_p.E339D|CTH_ENST00000346806.2_Missense_Mutation_p.E295D	NM_001190463.1	NP_001177392.1	P32929	CGL_HUMAN	cystathionase (cystathionine gamma-lyase)	339					cysteine biosynthetic process|hydrogen sulfide biosynthetic process|protein homotetramerization|protein-pyridoxal-5-phosphate linkage via peptidyl-N6-pyridoxal phosphate-L-lysine	cytoplasm|nucleus	cystathionine gamma-lyase activity|L-cysteine desulfhydrase activity|pyridoxal phosphate binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18					L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	CTCTGGCCGAGAGCTTGGGAG	0.323000													7	20					0	0	0.00448238	0	0
CUX1	1523	broad.mit.edu	37	7	101559408	101559408	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr7:101559408C>A	ENST00000360264.3	+	2	97	c.77C>A	c.(76-78)gCc>gAc	p.A26D	CUX1_ENST00000546411.2_Missense_Mutation_p.A15D|CUX1_ENST00000425244.2_Missense_Mutation_p.A26D|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000556210.1_Missense_Mutation_p.A15D|CUX1_ENST00000292538.4_Missense_Mutation_p.A26D|CUX1_ENST00000292535.7_Missense_Mutation_p.A15D|CUX1_ENST00000549414.2_Missense_Mutation_p.A15D|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000437600.4_Missense_Mutation_p.A26D|CUX1_ENST00000547394.2_Missense_Mutation_p.A26D|CUX1_ENST00000550008.2_Missense_Mutation_p.A15D	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	15					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GAACTCGATGCCACCGCAACG	0.498000													39	146					1.15183e-24	3.45983e-24	0.00222228	1	0
SERPINA4	5267	broad.mit.edu	37	14	95035800	95035800	+	Silent	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr14:95035800G>A	ENST00000557004.1	+	5	1573	c.1152G>A	c.(1150-1152)gcG>gcA	p.A384A	SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000298841.5_Silent_p.A384A|SERPINA4_ENST00000555095.1_Silent_p.A384A			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	384					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		CCAGCTTCGCGATCAAATTCT	0.547000													24	52					0	0	0.00395357	0	0
SLC17A9	63910	broad.mit.edu	37	20	61598820	61598820	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr20:61598820G>A	ENST00000370349.3	+	14	1465	c.1261G>A	c.(1261-1263)Gtg>Atg	p.V421M	SLC17A9_ENST00000370351.4_Missense_Mutation_p.V427M|SLC17A9_ENST00000488738.1_3'UTR			Q9BYT1	S17A9_HUMAN	solute carrier family 17 (vesicular nucleotide transporter), member 9	427					exocytosis|transmembrane transport	integral to membrane	transporter activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						GGCTCAGAGGGTGGACCTGAG	0.617000													33	117					0	0	0.00428921	0	0
ARHGAP39	80728	broad.mit.edu	37	8	145763114	145763114	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr8:145763114C>G	ENST00000377307.2	-	6	2689	c.2605G>C	c.(2605-2607)Gag>Cag	p.E869Q	ARHGAP39_ENST00000540274.1_Intron|ARHGAP39_ENST00000276826.5_Intron	NM_025251.1	NP_079527.1	Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	840	MyTH4.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						CCATCCGGCTCTTCAACATAA	0.552000													31	97					0	0	0.00283554	0	0
OR2L2	26246	broad.mit.edu	37	1	248201622	248201622	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr1:248201622C>A	ENST00000366479.2	+	1	149	c.53C>A	c.(52-54)cCa>cAa	p.P18Q	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	18					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			GGGCTGTTCCCACAATCAAGA	0.368000													43	135					1.38162e-09	3.90076e-09	0.00195071	1	0
NOVA2	4858	broad.mit.edu	37	19	46443312	46443312	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr19:46443312C>T	ENST00000263257.5	-	4	1482	c.1288G>A	c.(1288-1290)Gtg>Atg	p.V430M		NM_002516.2	NP_002507.1	Q9UNW9	NOVA2_HUMAN	neuro-oncological ventral antigen 2	430	KH 3.					nucleus	RNA binding			endometrium(3)|large_intestine(5)|lung(13)	21		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179)		TGGTACTCCACCAACGTCTTG	0.662000													43	124					0	0	0.00285205	0	0
FADS2	9415	broad.mit.edu	37	11	61632693	61632693	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr11:61632693G>T	ENST00000278840.4	+	11	1857	c.1227G>T	c.(1225-1227)aaG>aaT	p.K409N	FADS2_ENST00000522056.1_Missense_Mutation_p.K378N|FADS2_ENST00000257261.6_Missense_Mutation_p.K387N	NM_004265.2	NP_004256.1	O95864	FADS2_HUMAN	fatty acid desaturase 2	409					electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	heme binding			breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20					Alpha-Linolenic Acid(DB00132)	TATGTGCCAAGCATGGCATTG	0.612000													18	55					4.75885e-15	1.38266e-14	0.000566183	1	0
GNAT3	346562	broad.mit.edu	37	7	80141221	80141221	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr7:80141221C>T	ENST00000398291.3	-	1	115	c.22G>A	c.(22-24)Gag>Aag	p.E8K	CD36_ENST00000435819.1_Intron	NM_001102386.1	NP_001095856.1	A8MTJ3	GNAT3_HUMAN	guanine nucleotide binding protein, alpha transducing 3	8					detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction|sensory perception of sweet taste|sensory perception of umami taste	cytoplasm|heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	9						TCCTTGCTCTCTGAACTAATT	0.418000													9	18					0	0	0.00448238	0	0
PAMR1	25891	broad.mit.edu	37	11	35456112	35456112	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr11:35456112C>T	ENST00000378880.2	-	10	2019	c.1574G>A	c.(1573-1575)gGg>gAg	p.G525E	PAMR1_ENST00000532848.1_Missense_Mutation_p.G485E|PAMR1_ENST00000278360.3_Missense_Mutation_p.G542E|PAMR1_ENST00000378878.3_Missense_Mutation_p.G414E	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	525	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						GTAGAATTTCCCCAAAACAAC	0.537000													23	107					0	0	0.00332997	0	0
LRRTM3	347731	broad.mit.edu	37	10	68687810	68687810	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr10:68687810C>A	ENST00000361320.4	+	2	1714	c.1136C>A	c.(1135-1137)aCg>aAg	p.T379K	CTNNA3_ENST00000494580.1_Intron|CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000433211.1_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	379						integral to membrane				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						CCAAAGCCGACGTTTAAGCCC	0.577000													17	58					1.99824e-07	5.58248e-07	0.000566183	1	0
AOC3	8639	broad.mit.edu	37	17	41006513	41006513	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr17:41006513C>A	ENST00000308423.2	+	2	1809	c.1649C>A	c.(1648-1650)gCt>gAt	p.A550D	AOC3_ENST00000591562.1_Missense_Mutation_p.A7D	NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	550					amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	GTCCCCATGGCTGTGCCCTGG	0.662000													17	48					8.00594e-06	2.18319e-05	0.000958276	1	0
TESPA1	9840	broad.mit.edu	37	12	55356756	55356756	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr12:55356756C>T	ENST00000524622.1	-	7	1173	c.512G>A	c.(511-513)aGg>aAg	p.R171K	TESPA1_ENST00000449076.1_Missense_Mutation_p.R309K|TESPA1_ENST00000532804.1_Missense_Mutation_p.R171K|TESPA1_ENST00000531122.1_Missense_Mutation_p.R171K|TESPA1_ENST00000316577.8_Missense_Mutation_p.R309K	NM_001261844.1|NM_014796.2	NP_001248773.1|NP_055611.1	A2RU30	K0748_HUMAN	thymocyte expressed, positive selection associated 1	309																	CAAACTGTTCCTTTTGGGGGT	0.532000													15	46					0	0	0.00316338	0	0
PACSIN1	29993	broad.mit.edu	37	6	34496436	34496436	+	Silent	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr6:34496436C>T	ENST00000538621.1	+	4	483	c.238C>T	c.(238-240)Ctg>Ttg	p.L80L	PACSIN1_ENST00000486120.1_3'UTR|PACSIN1_ENST00000374043.2_Silent_p.L38L|PACSIN1_ENST00000244458.2_Silent_p.L80L	NM_001199583.1	NP_001186512.1	Q9BY11	PACN1_HUMAN	protein kinase C and casein kinase substrate in neurons 1	80					endocytosis		protein kinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						GTATGGCAGCCTGGAGCGGGC	0.582000													37	131					0	0	0.00428921	0	0
SLC45A3	85414	broad.mit.edu	37	1	205631061	205631061	+	Silent	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr1:205631061G>A	ENST00000367145.3	-	4	1447	c.1152C>T	c.(1150-1152)ctC>ctT	p.L384L	SLC45A3_ENST00000460934.1_5'UTR	NM_033102.2	NP_149093.1	Q96JT2	S45A3_HUMAN	solute carrier family 45, member 3	384					transmembrane transport	integral to membrane			SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			TGAACCCGGTGAGGGCGGCTG	0.622000			T	"""ETV1, ETV5, ELK4, ERG"""	prostate								11	48					0	0	0.000978159	0	0
RGAG4	340526	broad.mit.edu	37	X	71351044	71351044	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chrX:71351044C>T	ENST00000545866.1	-	1	714	c.347G>A	c.(346-348)gGg>gAg	p.G116E	RGAG4_ENST00000479991.1_Missense_Mutation_p.G116E|NHSL2_ENST00000540800.1_Intron			Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	116										cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					GTCAGCGGGCCCGTCGGGGGT	0.697000													6	12					0	0	0.00198382	0	0
HADHB	3032	broad.mit.edu	37	2	26500001	26500001	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr2:26500001A>G	ENST00000317799.5	+	7	519	c.415A>G	c.(415-417)Atc>Gtc	p.I139V	HADHB_ENST00000405867.3_Missense_Mutation_p.I139V|HADHB_ENST00000545822.1_Missense_Mutation_p.I117V|HADHB_ENST00000537713.1_Missense_Mutation_p.I124V|HADHB_ENST00000494615.1_3'UTR	NM_000183.2	NP_000174.1	P55084	ECHB_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit	139					fatty acid beta-oxidation	mitochondrial nucleoid	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acyltransferase activity|enoyl-CoA hydratase activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CATGGCTTGTATCTCTGCCAA	0.403000													14	19					0	0	0.00316338	0	0
LTN1	26046	broad.mit.edu	37	21	30318479	30318479	+	Silent	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr21:30318479G>A	ENST00000361371.4	-	20	3768	c.3618C>T	c.(3616-3618)ttC>ttT	p.F1206F	LTN1_ENST00000389194.2_Silent_p.F1252F	NM_015565.2	NP_056380.2	O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	1206							ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						CCTACCAACTGAAAAGAAAAA	0.308000													17	98					0	0	0.000958276	0	0
SRD5A2	6716	broad.mit.edu	37	2	31805805	31805805	+	RNA	SNP	G	G	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr2:31805805G>T	ENST00000405650.1	-	0	331							P31213	S5A2_HUMAN	steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)						androgen biosynthetic process|cell differentiation|cell-cell signaling|male gonad development	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|sterol 5-alpha reductase activity					Acute lymphoblastic leukemia(172;0.155)				Azelaic Acid(DB00548)|Dutasteride(DB01126)	GGCAGCTCCTGCAGGAACCAG	0.706000													22	13					1.1804e-14	3.40483e-14	0.00395357	1	0
DPY19L2	283417	broad.mit.edu	37	12	63964555	63964555	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr12:63964555G>T	ENST00000324472.4	-	20	2166	c.1983C>A	c.(1981-1983)taC>taA	p.Y661*	DPY19L2_ENST00000413230.2_Nonsense_Mutation_p.Y108*	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	661					multicellular organismal development|spermatid development	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		CTGCATCTTCGTAATGTGGAT	0.418000													18	89					1.33834e-09	3.79195e-09	0.000958276	1	0
FSCB	84075	broad.mit.edu	37	14	44975031	44975031	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr14:44975031G>A	ENST00000340446.4	-	1	1451	c.1160C>T	c.(1159-1161)cCc>cTc	p.P387L		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	387	Pro-rich.					cilium		p.P387L(1)		breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		TTGTGCTGAGGGAGACCGAAT	0.527000													33	111					0	0	0.00375469	0	0
C1orf168	199920	broad.mit.edu	37	1	57209833	57209833	+	Silent	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr1:57209833C>T	ENST00000343433.6	-	10	1574	c.1494G>A	c.(1492-1494)agG>agA	p.R498R	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	498										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						ACACCTCTTTCCTGGAGTACT	0.408000													27	91					0	0	0.00465635	0	0
COL13A1	1305	broad.mit.edu	37	10	71631932	71631932	+	Splice_Site	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr10:71631932C>T	ENST00000356340.3	+	3	901	c.364_splice	c.e3-1	p.A122_splice	COL13A1_ENST00000520133.1_Intron|COL13A1_ENST00000398966.3_Splice_Site_p.A122_splice|COL13A1_ENST00000354547.3_Intron|COL13A1_ENST00000398964.3_Splice_Site_p.A122_splice|COL13A1_ENST00000398971.3_Splice_Site_p.A122_splice|COL13A1_ENST00000398972.3_Intron|COL13A1_ENST00000522165.1_Intron|COL13A1_ENST00000398969.3_Intron|COL13A1_ENST00000398974.3_Splice_Site_p.A122_splice|COL13A1_ENST00000520267.1_Intron|COL13A1_ENST00000398973.3_Intron|COL13A1_ENST00000517713.1_Intron|COL13A1_ENST00000398978.3_Intron|COL13A1_ENST00000357811.3_Intron|COL13A1_ENST00000398968.3_Splice_Site_p.A122_splice			Q5TAT6	CODA1_HUMAN	collagen, type XIII, alpha 1	122	Triple-helical region 1 (COL1).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding			endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28					Atorvastatin(DB01076)|Simvastatin(DB00641)	CGTCACTCTTCATTTCAGGGT	0.483000													8	36					0	0	0.00448238	0	0
OSMR	9180	broad.mit.edu	37	5	38933124	38933124	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr5:38933124C>T	ENST00000274276.3	+	18	2920	c.2518C>T	c.(2518-2520)Ctc>Ttc	p.L840F		NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	840					cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					CTACCTTTATCTCCTTCCAAC	0.468000													37	137					0	0	0.000953801	0	0
GBP5	115362	broad.mit.edu	37	1	89729518	89729518	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr1:89729518C>A	ENST00000343435.5	-	9	1799	c.1263G>T	c.(1261-1263)aaG>aaT	p.K421N	GBP5_ENST00000481145.1_5'UTR|RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000370459.3_Missense_Mutation_p.K421N	NM_001134486.2|NM_052942.3	NP_001127958.1|NP_443174.1	Q96PP8	GBP5_HUMAN	guanylate binding protein 5	421						plasma membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		AAATTCCCTGCTTCACTGCTT	0.423000													54	150					1.86277e-20	5.53291e-20	0.00361006	1	0
AKT2	208	broad.mit.edu	37	19	40739814	40739814	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr19:40739814G>A	ENST00000392038.2	-	14	1709	c.1411C>T	c.(1411-1413)Ccc>Tcc	p.P471S	AKT2_ENST00000311278.6_Missense_Mutation_p.P428S|AKT2_ENST00000424901.1_Missense_Mutation_p.P471S	NM_001243027.1|NM_001243028.1|NM_001626.4	NP_001229956.1|NP_001229957.1|NP_001617.1	P31751	AKT2_HUMAN	v-akt murine thymoma viral oncogene homolog 2	471	AGC-kinase C-terminal.				insulin receptor signaling pathway|negative regulation of plasma membrane long-chain fatty acid transport|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1)	27			Lung(22;0.000499)			GAGAACTGGGGGAAGTGGGTC	0.642000			A		"""ovarian, pancreatic """								10	26					0	0	0.000673444	0	0
CLVS2	134829	broad.mit.edu	37	6	123332247	123332247	+	Silent	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr6:123332247C>T	ENST00000275162.4	+	3	1842	c.507C>T	c.(505-507)ttC>ttT	p.F169F	CLVS2_ENST00000368438.1_Silent_p.F23F	NM_001010852.2	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2	169	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						ACTTCACTTTCAAGCAAGCCT	0.413000													14	75					0	0	0.00316338	0	0
MLKL	197259	broad.mit.edu	37	16	74719469	74719469	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr16:74719469C>G	ENST00000308807.7	-	5	1198	c.735G>C	c.(733-735)caG>caC	p.Q245H	MLKL_ENST00000306247.7_Intron	NM_152649.2	NP_689862.1	Q8NB16	MLKL_HUMAN	mixed lineage kinase domain-like	245	Protein kinase.						ATP binding|protein binding|protein kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						TATTGAAAGTCTGCCTCACTA	0.398000													3	23					0	0	6.4e-05	0	0
MAOB	4129	broad.mit.edu	37	X	43652760	43652760	+	Silent	SNP	C	C	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chrX:43652760C>A	ENST00000378069.4	-	8	981	c.834G>T	c.(832-834)ctG>ctT	p.L278L	MAOB_ENST00000538942.1_Silent_p.L262L|MAOB_ENST00000536181.1_Silent_p.L262L	NM_000898.4	NP_000889.3	P27338	AOFB_HUMAN	monoamine oxidase B	278					xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	electron carrier activity|primary amine oxidase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(2)|skin(5)	21					Amantadine(DB00915)|Bupropion(DB01156)|Carbidopa(DB00190)|Citalopram(DB00215)|Dopamine(DB00988)|Entacapone(DB00494)|Furazolidone(DB00614)|Ginkgo biloba(DB01381)|Ibuprofen(DB01050)|Imipramine(DB00458)|Iproniazid(DB04818)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Maprotiline(DB00934)|Meclizine(DB00737)|Moclobemide(DB01171)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Rasagiline(DB01367)|Selegiline(DB01037)|Tranylcypromine(DB00752)	TCATCATTGGCAGAGGGGGAT	0.413000													24	63					1.42536e-11	4.08193e-11	0.00465635	1	0
NPHP1	4867	broad.mit.edu	37	2	110962526	110962526	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr2:110962526C>A	ENST00000316534.4	-	1	93	c.20G>T	c.(19-21)cGa>cTa	p.R7L	NPHP1_ENST00000417665.1_Missense_Mutation_p.R7L|NPHP1_ENST00000393272.3_Missense_Mutation_p.R7L|NPHP1_ENST00000418527.1_Missense_Mutation_p.R7L|NPHP1_ENST00000445609.2_Missense_Mutation_p.R7L|NPHP1_ENST00000355301.4_Missense_Mutation_p.R7L			O15259	NPHP1_HUMAN	nephronophthisis 1 (juvenile)	7					actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior	adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium	protein binding|structural molecule activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						GAGAGGATCTCGCTGTCGTCT	0.662000													5	48					2.7689e-08	7.76262e-08	0.00198382	1	0
PTK2B	2185	broad.mit.edu	37	8	27289833	27289833	+	Silent	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr8:27289833G>A	ENST00000397501.1	+	15	1750	c.942G>A	c.(940-942)gaG>gaA	p.E314E	PTK2B_ENST00000420218.2_Silent_p.E314E|PTK2B_ENST00000338238.4_Silent_p.E314E|PTK2B_ENST00000346049.5_Silent_p.E314E|PTK2B_ENST00000517339.1_Silent_p.E314E|PTK2B_ENST00000544172.1_Silent_p.E314E|PTK2B_ENST00000397497.4_Silent_p.E60E	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	314	FERM.				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		TCCCGCTGGAGGAGGGCCAGG	0.622000													7	28					0	0	0.00307968	0	0
HDAC4	9759	broad.mit.edu	37	2	240036972	240036972	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr2:240036972G>A	ENST00000345617.3	-	13	2344	c.1553C>T	c.(1552-1554)cCg>cTg	p.P518L	HDAC4_ENST00000543185.1_Missense_Mutation_p.P102L|HDAC4_ENST00000541256.1_Missense_Mutation_p.P492L	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	518					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			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)		GTGGCTCTCCGGCTGCCGGGC	0.652000													31	53					0	0	0.00327116	0	0
CNTNAP2	26047	broad.mit.edu	37	7	148112633	148112633	+	Silent	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr7:148112633G>A	ENST00000361727.3	+	24	4437	c.3921G>A	c.(3919-3921)gcG>gcA	p.A1307A	CNTNAP2_ENST00000538075.1_Silent_p.A366A|CNTNAP2_ENST00000463592.2_3'UTR	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	1307					behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CAGAGAGCGCGGACGCCGCCA	0.552000										HNSCC(39;0.1)			15	58					0	0	0.00244969	0	0
BAGE2	85319	broad.mit.edu	37	21	11058282	11058282	+	RNA	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr21:11058282G>A	ENST00000470054.1	-	0	365									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TCTCTTCACAGCATTTGATAG	0.403000													5	178					0	0	0.00116845	0	0
DOCK7	85440	broad.mit.edu	37	1	62960063	62960063	+	Silent	SNP	T	T	C			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr1:62960063T>C	ENST00000251157.5	-	40	5106	c.5073A>G	c.(5071-5073)gaA>gaG	p.E1691E	DOCK7_ENST00000340370.5_Silent_p.E1669E	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1700	DHR-2.				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						GATTGCTTCGTTCTGAGTGCT	0.478000													17	56					0	0	0.000958276	0	0
CHD6	84181	broad.mit.edu	37	20	40049688	40049688	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr20:40049688G>A	ENST00000373233.3	-	31	5764	c.5587C>T	c.(5587-5589)Cac>Tac	p.H1863Y		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1863					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				tcatcACTGTGGTTCTGACTC	0.428000													20	72					0	0	0.000958276	0	0
TET3	200424	broad.mit.edu	37	2	74328683	74328683	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr2:74328683G>A	ENST00000409262.3	+	9	4363	c.4363G>A	c.(4363-4365)Gag>Aag	p.E1455K		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	1455							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GGGATCCAGCGAGAAGCTGTT	0.652000													6	15					0	0	0.00116845	0	0
FAXDC2	10826	broad.mit.edu	37	5	154214195	154214195	+	Silent	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr5:154214195G>A	ENST00000326080.5	-	4	657	c.234C>T	c.(232-234)ctC>ctT	p.L78L	FAXDC2_ENST00000523997.1_5'UTR|FAXDC2_ENST00000520968.1_Silent_p.L78L|FAXDC2_ENST00000518651.1_Silent_p.L55L|FAXDC2_ENST00000517938.1_Silent_p.L55L	NM_032385.3	NP_115761.2			fatty acid hydroxylase domain containing 2																		CTATAAAGAAGAGGATCCACT	0.453000													13	40					0	0	0.00185496	0	0
GUSB	2990	broad.mit.edu	37	7	65439597	65439597	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr7:65439597G>A	ENST00000304895.4	-	7	1290	c.1160C>T	c.(1159-1161)cCc>cTc	p.P387L	GUSB_ENST00000421103.1_Missense_Mutation_p.P241L|GUSB_ENST00000345660.6_Missense_Mutation_p.P336L	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN	glucuronidase, beta	387					glycosaminoglycan catabolic process	lysosome	beta-glucuronidase activity|cation binding			breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						CTCTGCATAGGGGTAGTGGCT	0.597000													19	59					0	0	0.00152264	0	0
CPB2	1361	broad.mit.edu	37	13	46632457	46632457	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr13:46632457C>G	ENST00000181383.4	-	9	872	c.856G>C	c.(856-858)Gaa>Caa	p.E286Q	CPB2-AS1_ENST00000415033.2_RNA|CPB2-AS1_ENST00000606351.1_RNA|CPB2-AS1_ENST00000606243.1_RNA|CPB2_ENST00000439329.3_Missense_Mutation_p.E249Q|CPB2-AS1_ENST00000606991.1_RNA	NM_001872.3	NP_001863.3	Q96IY4	CBPB2_HUMAN	carboxypeptidase B2 (plasma)	286					blood coagulation|fibrinolysis|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)		ACTTCTGGTTCTGACTCAGGA	0.428000													16	91					0	0	0.000566183	0	0
LRRC4	64101	broad.mit.edu	37	7	127670131	127670131	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr7:127670131G>C	ENST00000249363.3	-	2	820	c.563C>G	c.(562-564)tCt>tGt	p.S188C	SND1_ENST00000354725.3_Intron	NM_022143.4	NP_071426.1	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4	188						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26				Lung(243;0.124)		AGCTCCCTCAGAGATATACTC	0.557000													14	57					0	0	0.00185496	0	0
DVL1	1855	broad.mit.edu	37	1	1273500	1273500	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr1:1273500G>A	ENST00000378888.5	-	14	1855	c.1571C>T	c.(1570-1572)cCg>cTg	p.P524L	DVL1_ENST00000378891.5_Missense_Mutation_p.P499L			O14640	DVL1_HUMAN	dishevelled segment polarity protein 1	524					canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway	cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome	frizzled binding|identical protein binding|protein kinase binding|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GTGGGGCAGCGGGGCCAGCGT	0.721000													7	16					0	0	0.00307968	0	0
ZNF224	7767	broad.mit.edu	37	19	44611712	44611712	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr19:44611712C>T	ENST00000336976.6	+	6	1653	c.1399C>T	c.(1399-1401)Cgg>Tgg	p.R467W	AC084219.4_ENST00000592946.1_RNA	NM_013398.2	NP_037530.2	Q9NZL3	ZN224_HUMAN	zinc finger protein 224	467					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19		Prostate(69;0.0435)				GAGCTTTAGTCGGGCCCCATG	0.438000													19	62					0	0	0.00074312	0	0
ZFC3H1	196441	broad.mit.edu	37	12	72005625	72005625	+	Silent	SNP	C	C	G			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr12:72005625C>G	ENST00000378743.3	-	32	6028	c.5670G>C	c.(5668-5670)ctG>ctC	p.L1890L		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	1890					RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CTTGAAGTTTCAGAATCTGAA	0.363000													12	45					0	0	0.00400662	0	0
REV3L	5980	broad.mit.edu	37	6	111693797	111693797	+	Splice_Site	SNP	A	A	G			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr6:111693797A>G	ENST00000435970.1	-	15	6342		c.e15+1		REV3L_ENST00000368805.1_Splice_Site|REV3L_ENST00000368802.3_Splice_Site|REV3L_ENST00000358835.3_Splice_Site			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit						DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		ATAACTGATTACCTGGGCTTT	0.348000								DNA polymerases (catalytic subunits)					18	67					0	0	0.000566183	0	0
LIPI	149998	broad.mit.edu	37	21	15561401	15561401	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr21:15561401G>T	ENST00000344577.2	-	2	474	c.449C>A	c.(448-450)aCc>aAc	p.T150N	LIPI_ENST00000536861.1_Missense_Mutation_p.T129N	NM_198996.2	NP_945347.1	Q6XZB0	LIPI_HUMAN	lipase, member I	129					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		AACTTTTCTGGTGTTTTTAAC	0.328000													9	61					7.48243e-07	2.07585e-06	0.000442599	1	0
DEFA4	1669	broad.mit.edu	37	8	6794389	6794389	+	Silent	SNP	G	G	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr8:6794389G>T	ENST00000297435.2	-	2	157	c.33C>A	c.(31-33)ctC>ctA	p.L11L		NM_001925.1	NP_001916.1	P12838	DEF4_HUMAN	defensin, alpha 4, corticostatin	11					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	10				COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		GGGCTACCAAGAGAATAGCAG	0.602000													8	37					0.000157383	0.000423398	0.00307968	1	0
IRF1	3659	broad.mit.edu	37	5	131819732	131819732	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr5:131819732C>T	ENST00000245414.4	-	10	1147	c.889G>A	c.(889-891)Gat>Aat	p.D297N	IRF1_ENST00000405885.2_Missense_Mutation_p.D297N	NM_002198.2	NP_002189.1	P10914	IRF1_HUMAN	interferon regulatory factor 1	297					blood coagulation|cellular response to mechanical stimulus|interferon-gamma-mediated signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleoplasm				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.026)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)		TTCTTCAGATCTGTGAAGACA	0.582000													18	77					0	0	0.00152264	0	0
MYH4	4622	broad.mit.edu	37	17	10348460	10348460	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr17:10348460C>A	ENST00000255381.2	-	37	5409	c.5299G>T	c.(5299-5301)Gcc>Tcc	p.A1767S	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1767					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GCCATCATGGCAGCCTAGTTA	0.473000													53	159					3.4597e-24	1.03532e-23	0.00361006	1	0
IRF1	3659	broad.mit.edu	37	5	131820143	131820143	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr5:131820143C>T	ENST00000245414.4	-	9	1022	c.764G>A	c.(763-765)gGg>gAg	p.G255E	IRF1_ENST00000405885.2_Missense_Mutation_p.G255E	NM_002198.2	NP_002189.1	P10914	IRF1_HUMAN	interferon regulatory factor 1	255					blood coagulation|cellular response to mechanical stimulus|interferon-gamma-mediated signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleoplasm				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.026)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)		GAGTAGGTACCCCTTCCCATC	0.552000													22	141					0	0	0.00229938	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43777495	43777495	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr12:43777495G>A	ENST00000389420.3	-	31	4662	c.4663C>T	c.(4663-4665)Cga>Tga	p.R1555*		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1555	TSP type-1 13.					proteinaceous extracellular matrix	zinc ion binding	p.R1555*(1)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CACTCCATTCGTTGATGTGAA	0.343000													8	55					0	0	0.00448238	0	0
KIF21B	23046	broad.mit.edu	37	1	200954056	200954056	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr1:200954056C>T	ENST00000332129.2	-	27	4050	c.3734G>A	c.(3733-3735)cGg>cAg	p.R1245Q	KIF21B_ENST00000461742.2_Missense_Mutation_p.R1245Q|KIF21B_ENST00000360529.5_Missense_Mutation_p.R1245Q|KIF21B_ENST00000422435.2_Missense_Mutation_p.R1245Q	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	1245					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						ATTGCGGGGCCGAGTGGGAGG	0.627000													12	48					0	0	0.00244969	0	0
JPH3	57338	broad.mit.edu	37	16	87636924	87636924	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr16:87636924G>A	ENST00000284262.2	+	1	414	c.172G>A	c.(172-174)Ggc>Agc	p.G58S		NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	58	Gly-rich.				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		CTGGCCCAGCGGCAACACGTA	0.682000													9	27					0	0	0.000442599	0	0
TMC3	342125	broad.mit.edu	37	15	81648086	81648086	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr15:81648086C>G	ENST00000558726.1	-	9	1050	c.915G>C	c.(913-915)gaG>gaC	p.E305D	TMC3_ENST00000359440.5_Missense_Mutation_p.E305D|RP11-761I4.3_ENST00000559781.1_RNA|RP11-761I4.3_ENST00000560851.1_RNA			Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	305						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						TTTTCTTTTTCTCCTGTTCTT	0.284000													14	44					0	0	0.00074312	0	0
EDA	1896	broad.mit.edu	37	X	69253320	69253320	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chrX:69253320G>A	ENST00000374552.4	+	7	1108	c.866G>A	c.(865-867)cGc>cAc	p.R289H	EDA_ENST00000374553.2_Missense_Mutation_p.R289H|EDA_ENST00000524573.1_Missense_Mutation_p.R286H	NM_001399.4	NP_001390.1	Q92838	EDA_HUMAN	ectodysplasin A	289					cell differentiation|ectoderm development|immune response|positive regulation of NF-kappaB transcription factor activity|signal transduction	collagen|cytoskeleton|membrane fraction	tumor necrosis factor receptor binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|urinary_tract(1)	14						CTACATCCCCGCAGCGGGGAG	0.498000											OREG0019847	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	36	116					0	0	0.00283554	0	0
HOXC11	3227	broad.mit.edu	37	12	54367367	54367367	+	Silent	SNP	C	C	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr12:54367367C>A	ENST00000546378.1	+	1	458	c.342C>A	c.(340-342)ctC>ctA	p.L114L	HOTAIR_ENST00000424518.1_RNA|HOTAIR_ENST00000455246.1_RNA|HOXC11_ENST00000243082.4_Silent_p.L114L			O43248	HXC11_HUMAN	homeobox C11	114					endoderm development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(1)	2						CCGAGATCCTCATGAAAAACG	0.637000			T	NUP98	AML								54	193					2.47907e-22	7.39095e-22	0.00361006	1	0
MIR31HG	554202	broad.mit.edu	37	9	21455940	21455940	+	RNA	SNP	C	C	G			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr9:21455940C>G	ENST00000304425.3	-	0	445					NR_027054.1																						GAATCCATCTCTACCTGAAAG	0.473000													6	4					0	0	0.00116845	0	0
CATSPER2	117155	broad.mit.edu	37	15	43927989	43927989	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr15:43927989C>T	ENST00000396879.1	-	10	1169	c.1057G>A	c.(1057-1059)Gag>Aag	p.E353K	CATSPER2_ENST00000321596.5_Missense_Mutation_p.E353K|CATSPER2_ENST00000381761.1_Missense_Mutation_p.E359K|CATSPER2_ENST00000355438.2_Missense_Mutation_p.E353K|CATSPER2_ENST00000354127.4_Missense_Mutation_p.E353K|STRC_ENST00000541030.1_Intron			Q96P56	CTSR2_HUMAN	cation channel, sperm associated 2	353					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|protein binding|voltage-gated ion channel activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		GCCATCTCCTCATTCAGCTCT	0.502000													16	43					0	0	0.00400662	0	0
SVILP1	645954	broad.mit.edu	37	10	30986357	30986357	+	RNA	SNP	T	T	C	rs117915096	by1000genomes	TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr10:30986357T>C	ENST00000435645.1	+	0	347																											CGGCGCTCAATAGTGGGGACT	0.552000													3	14					0	0	0.00024832	0	0
TRBV10-2	28584	broad.mit.edu	37	7	142206550	142206550	+	RNA	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr7:142206550C>T	ENST00000426318.2	-	0	355																											TGTCTGGGAGCGGGTAGCTGA	0.522000													23	70					0	0	0.000878237	0	0
EMILIN2	84034	broad.mit.edu	37	18	2891362	2891362	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr18:2891362G>A	ENST00000254528.3	+	4	1396	c.1237G>A	c.(1237-1239)Gac>Aac	p.D413N		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	413					cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		CAAGACATTGGACCAGAAAAT	0.473000													9	45					0	0	0.00448238	0	0
JMJD8	339123	broad.mit.edu	37	16	733066	733066	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr16:733066C>T	ENST00000293882.4	-	8	810	c.811G>A	c.(811-813)Gag>Aag	p.E271K	JMJD8_ENST00000454700.1_Missense_Mutation_p.E241K|JMJD8_ENST00000412368.2_Missense_Mutation_p.E222K|JMJD8_ENST00000562824.1_Missense_Mutation_p.E171K|JMJD8_ENST00000562111.1_Intron			Q96S16	JMJD8_HUMAN	jumonji domain containing 8	271	JmjC.									breast(1)	1						GGCGTCTTCTCAGGTGGGTAA	0.637000													28	89					0	0	0.00178596	0	0
NFATC4	4776	broad.mit.edu	37	14	24845916	24845916	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr14:24845916C>T	ENST00000413692.2	+	10	2806	c.2662C>T	c.(2662-2664)Ccc>Tcc	p.P888S	NFATC4_ENST00000557767.1_Intron|NFATC4_ENST00000557451.1_Missense_Mutation_p.P755S|NFATC4_ENST00000422617.3_Missense_Mutation_p.P813S|NFATC4_ENST00000554661.1_Intron|NFATC4_ENST00000554344.1_Missense_Mutation_p.P755S|NFATC4_ENST00000539237.2_Missense_Mutation_p.P857S|NFATC4_ENST00000553708.1_Missense_Mutation_p.P825S|NFATC4_ENST00000556759.1_Missense_Mutation_p.P360S|NFATC4_ENST00000556279.1_Missense_Mutation_p.P857S|NFATC4_ENST00000555393.1_Missense_Mutation_p.P113S|NFATC4_ENST00000553879.1_Missense_Mutation_p.P755S|NFATC4_ENST00000554591.1_Intron|NFATC4_ENST00000555802.1_Missense_Mutation_p.P113S|NFATC4_ENST00000555590.1_Missense_Mutation_p.P838S|NFATC4_ENST00000553469.1_Intron|NFATC4_ENST00000554050.1_Intron|NFATC4_ENST00000554966.1_Intron|NFATC4_ENST00000424781.2_Missense_Mutation_p.P838S|NFATC4_ENST00000556169.1_Intron|NFATC4_ENST00000554473.1_Intron|NFATC4_ENST00000555167.1_Missense_Mutation_p.P360S|NFATC4_ENST00000555453.1_Missense_Mutation_p.P813S|NFATC4_ENST00000250373.4_Missense_Mutation_p.P825S	NM_001136022.1|NM_001198967.1	NP_001129494.1|NP_001185896.1	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	825					cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		GCTTGAAGGCCCCTTCCCTTC	0.642000													40	181					0	0	0.00195071	0	0
CD209	30835	broad.mit.edu	37	19	7809868	7809868	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr19:7809868C>T	ENST00000315599.7	-	5	881	c.859G>A	c.(859-861)Gtg>Atg	p.V287M	CD209_ENST00000593821.1_Missense_Mutation_p.V151M|CD209_ENST00000315591.8_Missense_Mutation_p.V263M|CD209_ENST00000394173.4_Missense_Mutation_p.V126M|CD209_ENST00000593660.1_Missense_Mutation_p.V217M|CD209_ENST00000601951.1_Missense_Mutation_p.V263M|CD209_ENST00000354397.6_Missense_Mutation_p.V287M|CD209_ENST00000602261.1_Missense_Mutation_p.V195M|CD209_ENST00000204801.8_Missense_Mutation_p.V243M|CD209_ENST00000301357.8_Missense_Mutation_p.V151M|CD209_ENST00000394161.5_Intron|CD209_ENST00000601256.1_Missense_Mutation_p.V263M	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	287	C-type lectin.				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TGGGCCCCCACTTCTTTGCAG	0.587000													17	80					0	0	0.000566183	0	0
TGFBR2	7048	broad.mit.edu	37	3	30713559	30713559	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr3:30713559C>G	ENST00000295754.5	+	4	1266	c.884C>G	c.(883-885)tCa>tGa	p.S295*	TGFBR2_ENST00000359013.4_Nonsense_Mutation_p.S320*	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	295	Protein kinase.				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding	p.S295*(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						GACATCTTCTCAGACATCAAT	0.493000													24	55					0	0	0.000878237	0	0
GPR25	2848	broad.mit.edu	37	1	200842300	200842300	+	Silent	SNP	C	C	G			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr1:200842300C>G	ENST00000304244.2	+	1	218	c.135C>G	c.(133-135)ctC>ctG	p.L45L		NM_005298.2	NP_005289.2	O00155	GPR25_HUMAN	G protein-coupled receptor 25	45						integral to plasma membrane				large_intestine(1)|lung(2)|ovary(1)|skin(1)	5						TCCCCGCGCTCTACCTGGCGG	0.721000													5	18					0	0	0.00116845	0	0
KIF17	57576	broad.mit.edu	37	1	21031314	21031314	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr1:21031314G>A	ENST00000247986.2	-	5	1059	c.749C>T	c.(748-750)aCc>aTc	p.T250I	KIF17_ENST00000400463.3_Missense_Mutation_p.T250I|KIF17_ENST00000375044.1_Missense_Mutation_p.T150I			Q9P2E2	KIF17_HUMAN	kinesin family member 17	250	Kinesin-motor.				microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		CGTGGCCCCGGTCTTGGACTG	0.667000													11	78					0	0	0.00136819	0	0
GSAP	54103	broad.mit.edu	37	7	76950665	76950665	+	Missense_Mutation	SNP	G	G	A	rs6950836		TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr7:76950665G>A	ENST00000257626.7	-	25	2057	c.1979C>T	c.(1978-1980)tCc>tTc	p.S660F	GSAP_ENST00000440473.1_5'UTR|GSAP_ENST00000441833.2_Intron	NM_017439.3	NP_059135.2			gamma-secretase activating protein																		GAGAACCCAGGAATGAAGATT	0.423000													5	21					0	0	0.00116845	0	0
CRB2	286204	broad.mit.edu	37	9	126136903	126136903	+	Silent	SNP	C	C	T	rs148933240	byFrequency	TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr9:126136903C>T	ENST00000373631.3	+	11	3436	c.3435C>T	c.(3433-3435)ctC>ctT	p.L1145L	CRB2_ENST00000373629.2_Silent_p.L813L	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 (Drosophila)	1145	EGF-like 14.					extracellular region|integral to membrane|plasma membrane	calcium ion binding	p.L1145L(1)		NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						TCACCTGCCTCGATGGCAGCC	0.657000													20	28					0	0	0.00121646	0	0
ABHD17B	51104	broad.mit.edu	37	9	74489807	74489807	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr9:74489807C>A	ENST00000333421.6	-	2	301	c.190G>T	c.(190-192)Gat>Tat	p.D64Y	ABHD17B_ENST00000377041.2_Missense_Mutation_p.D64Y	NM_001025780.1	NP_001020951.1			abhydrolase domain containing 17B																		TCAATAGCATCTTTTTCTCTA	0.413000													7	70					5.18039e-06	1.42238e-05	0.00307968	1	0
C11orf87	399947	broad.mit.edu	37	11	109294892	109294892	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr11:109294892C>A	ENST00000327419.6	+	2	936	c.533C>A	c.(532-534)gCa>gAa	p.A178E	RP11-708B6.2_ENST00000532929.1_RNA|RP11-708B6.2_ENST00000532992.1_RNA	NM_207645.3	NP_997528.2	Q6NUJ2	CK087_HUMAN	chromosome 11 open reading frame 87	178						integral to membrane				breast(2)|endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17						GGAGCACACGCAGCTTCCTCC	0.637000													21	34					4.35082e-09	1.22405e-08	0.00152264	1	0
ARID2	196528	broad.mit.edu	37	12	46245639	46245639	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr12:46245639C>T	ENST00000334344.6	+	15	3905	c.3733C>T	c.(3733-3735)Caa>Taa	p.Q1245*	ARID2_ENST00000422737.1_Nonsense_Mutation_p.Q1096*|ARID2_ENST00000444670.1_Nonsense_Mutation_p.Q855*|ARID2_ENST00000479608.1_3'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1245					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		AATAATTTGCCAAAAGGAGGA	0.458000			"""N, S, F"""		hepatocellular carcinoma								14	57					0	0	0.00244969	0	0
ZNF211	10520	broad.mit.edu	37	19	58152875	58152875	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr19:58152875T>C	ENST00000544273.1	+	5	1384	c.1057T>C	c.(1057-1059)Tat>Cat	p.Y353H	ZNF211_ENST00000420680.1_Missense_Mutation_p.Y345H|ZNF211_ENST00000541801.1_Missense_Mutation_p.Y332H|ZNF211_ENST00000240731.4_Missense_Mutation_p.Y354H|ZNF211_ENST00000254182.7_Missense_Mutation_p.Y332H|ZNF211_ENST00000299871.5_Missense_Mutation_p.Y406H|ZNF211_ENST00000391703.3_Missense_Mutation_p.Y280H|ZNF211_ENST00000347302.3_Missense_Mutation_p.Y341H			Q13398	ZN211_HUMAN	zinc finger protein 211	341						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AGAAAGGCCTTATGAATGTGG	0.463000													17	56					0	0	0.000566183	0	0
TMEM159	57146	broad.mit.edu	37	16	21181823	21181823	+	Silent	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr16:21181823C>T	ENST00000233047.4	+	3	630	c.162C>T	c.(160-162)acC>acT	p.T54T	TMEM159_ENST00000572258.1_Silent_p.T54T|TMEM159_ENST00000572599.1_Silent_p.T54T|TMEM159_ENST00000261388.3_Silent_p.T54T|TMEM159_ENST00000574092.1_3'UTR|TMEM159_ENST00000451578.2_Silent_p.T78T			Q96B96	TM159_HUMAN	transmembrane protein 159	54						integral to membrane				large_intestine(3)|lung(2)|ovary(1)	6				GBM - Glioblastoma multiforme(48;0.0972)		TGGCCTTCACCTTGCTGGTGT	0.522000													38	124					0	0	0.00170553	0	0
FRG1BP	284802	broad.mit.edu	37	20	29625947	29625947	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr20:29625947T>C	ENST00000278882.3	+	5	571	c.191T>C	c.(190-192)aTt>aCt	p.I64T	FRG1B_ENST00000439954.2_Missense_Mutation_p.I69T|FRG1B_ENST00000358464.4_Missense_Mutation_p.I64T														p.I64T(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TCAGATGCAATTGGACCAAGA	0.343000													3	66					0	0	0.000602214	0	0
SLF2	55719	broad.mit.edu	37	10	102676401	102676401	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr10:102676401G>C	ENST00000238961.3	+	3	407	c.259G>C	c.(259-261)Gag>Cag	p.E87Q	FAM178A_ENST00000370271.3_Missense_Mutation_p.E87Q|FAM178A_ENST00000370269.3_Missense_Mutation_p.E87Q	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	87																	CACTGGGACAGAGCAGTTTGA	0.373000													10	26					0	0	0.000673444	0	0
PKHD1	5314	broad.mit.edu	37	6	51921548	51921548	+	Silent	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr6:51921548G>A	ENST00000371117.3	-	18	1916	c.1641C>T	c.(1639-1641)tgC>tgT	p.C547C	PKHD1_ENST00000340994.4_Silent_p.C547C	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	547					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GTTCCAGTTTGCATTTTACTG	0.413000													24	82					0	0	0.00332997	0	0
ULK1	8408	broad.mit.edu	37	12	132401500	132401500	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr12:132401500C>T	ENST00000321867.4	+	21	2426	c.2075C>T	c.(2074-2076)tCt>tTt	p.S692F		NM_003565.2	NP_003556.1	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	692					autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		TCCCACAGGTCTTTCAGCACC	0.657000													5	44					0	0	0.000602214	0	0
TOX3	27324	broad.mit.edu	37	16	52484290	52484290	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr16:52484290C>T	ENST00000219746.9	-	4	861	c.577G>A	c.(577-579)Gcc>Acc	p.A193T	TOX3_ENST00000407228.3_Missense_Mutation_p.A188T	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN	TOX high mobility group box family member 3	193					apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity			NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						GGCATACTGGCACCTCCCAAA	0.567000													36	122					0	0	0.000953801	0	0
AKT1S1	84335	broad.mit.edu	37	19	50374957	50374957	+	Silent	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr19:50374957C>T	ENST00000391833.1	-	3	2463	c.474G>A	c.(472-474)gaG>gaA	p.E158E	AKT1S1_ENST00000391835.1_Silent_p.E178E|AKT1S1_ENST00000391832.3_Silent_p.E158E|AKT1S1_ENST00000391834.2_Silent_p.E158E|AKT1S1_ENST00000391831.1_Silent_p.E158E|AKT1S1_ENST00000344175.5_Silent_p.E158E	NM_001278160.1	NP_001265089.1	Q96B36	AKTS1_HUMAN	AKT1 substrate 1 (proline-rich)	158					negative regulation of cell size|negative regulation of protein kinase activity|negative regulation of TOR signaling cascade|nerve growth factor receptor signaling pathway|neuroprotection|phosphatidylinositol-mediated signaling|regulation of survival gene product expression	cytosolic part	protein binding			kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		CGGGGGTCTCCTCGCTCAGGC	0.667000													26	72					0	0	0.00395357	0	0
ADGRG6	57211	broad.mit.edu	37	6	142764560	142764560	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr6:142764560G>C	ENST00000367609.3	+	25	4062	c.3661G>C	c.(3661-3663)Gat>Cat	p.D1221H	GPR126_ENST00000367608.2_Missense_Mutation_p.D1193H|GPR126_ENST00000296932.8_3'UTR|GPR126_ENST00000230173.6_3'UTR	NM_198569.2	NP_940971.1	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	0					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		TCAGGTCATTGATAAGGTCAA	0.398000													52	168					0	0	0.00361006	0	0
PDZD2	23037	broad.mit.edu	37	5	32088220	32088220	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr5:32088220G>A	ENST00000438447.1	+	20	5054	c.4666G>A	c.(4666-4668)Gag>Aag	p.E1556K	PDZD2_ENST00000282493.3_Missense_Mutation_p.E1556K			O15018	PDZD2_HUMAN	PDZ domain containing 2	1556					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						TGGCGATGCTGAGGATTCTTC	0.542000													28	64					0	0	0.001512	0	0
ITGB1	3688	broad.mit.edu	37	10	33199181	33199181	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr10:33199181C>T	ENST00000396033.2	-	14	2269	c.2134G>A	c.(2134-2136)Gag>Aag	p.E712K	ITGB1_ENST00000374956.4_Missense_Mutation_p.E712K|ITGB1_ENST00000302278.3_Missense_Mutation_p.E712K|ITGB1_ENST00000423113.1_Missense_Mutation_p.E712K	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	712					axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)				ACCATGACCTCGTTGTTCCCA	0.423000													4	30					0	0	0.000602214	0	0
CNBD2	140894	broad.mit.edu	37	20	34596243	34596243	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr20:34596243A>G	ENST00000373973.3	+	9	1168	c.995A>G	c.(994-996)aAg>aGg	p.K332R	CNBD2_ENST00000538900.1_Missense_Mutation_p.K332R|CNBD2_ENST00000349339.1_Missense_Mutation_p.K332R					cyclic nucleotide binding domain containing 2																		GAAAGATTTAAGGAATTCCAG	0.408000													37	110					0	0	0.000953801	0	0
CPD	1362	broad.mit.edu	37	17	28706100	28706100	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr17:28706100C>G	ENST00000225719.4	+	1	178	c.102C>G	c.(100-102)atC>atG	p.I34M		NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	34	Carboxypeptidase-like 1.				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						CGGCTCACATCAAGAAGGCGG	0.706000													3	5					0	0	6.4e-05	0	0
SHANK1	50944	broad.mit.edu	37	19	51192464	51192464	+	Silent	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr19:51192464C>T	ENST00000293441.1	-	15	2055	c.2037G>A	c.(2035-2037)cgG>cgA	p.R679R	SHANK1_ENST00000391814.1_Silent_p.R679R|SHANK1_ENST00000391813.1_Silent_p.R66R|SHANK1_ENST00000359082.3_Silent_p.R670R	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	679	PDZ.				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CCTTGGCCCCCCGGAGCACGA	0.612000													11	94					0	0	0.00185496	0	0
NOL10	79954	broad.mit.edu	37	2	10729194	10729194	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr2:10729194A>T	ENST00000345985.3	-	18	1779	c.1669T>A	c.(1669-1671)Tct>Act	p.S557T	NOL10_ENST00000381685.5_Missense_Mutation_p.S607T|NOL10_ENST00000542668.1_Missense_Mutation_p.S557T|NOL10_ENST00000538384.1_Missense_Mutation_p.S581T	NM_001261394.1	NP_001248323.1	Q9BSC4	NOL10_HUMAN	nucleolar protein 10	607						nucleolus						Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.207)		TTTGTGGCAGAATCTTTGAAG	0.478000													65	80					0	0	0.00361006	0	0
BET1L	51272	broad.mit.edu	37	11	205338	205338	+	Silent	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr11:205338G>A	ENST00000382762.3	-	4	406	c.300C>T	c.(298-300)ttC>ttT	p.F100F	BET1L_ENST00000529614.2_Silent_p.F81F|RP11-304M2.5_ENST00000526963.1_RNA|BET1L_ENST00000486280.1_Silent_p.F77F|BET1L_ENST00000410108.1_Intron|BET1L_ENST00000332865.6_3'UTR|BET1L_ENST00000325147.9_3'UTR	NM_001098787.1|NM_016526.4	NP_001092257.1|NP_057610.2	Q9NYM9	BET1L_HUMAN	Bet1 golgi vesicular membrane trafficking protein-like	100					protein transport|retrograde transport, endosome to Golgi	endosome|SNARE complex	SNAP receptor activity						all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;4.2e-27)|Epithelial(43;2.8e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.7e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		AGGAGAGGATGAAGAAGGCCA	0.567000													9	28					0	0	0.000442599	0	0
SALL1	6299	broad.mit.edu	37	16	51171359	51171359	+	Silent	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr16:51171359G>A	ENST00000440970.1	-	3	3779	c.3348C>T	c.(3346-3348)ttC>ttT	p.F1116F	SALL1_ENST00000566102.1_3'UTR|SALL1_ENST00000541611.1_Silent_p.F36F|SALL1_ENST00000251020.4_Silent_p.F1213F	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	1213					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			ACATTTCTGGGAACTTGACGG	0.567000													13	48					0	0	0.00136819	0	0
FCGBP	8857	broad.mit.edu	37	19	40368526	40368526	+	Silent	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr19:40368526G>A	ENST00000221347.6	-	28	12829	c.12822C>T	c.(12820-12822)taC>taT	p.Y4274Y		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4274	VWFD 10.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CAGGGCCCTCGTACTGCTCCA	0.657000													6	80					0	0	0.00327116	0	0
KIF25	3834	broad.mit.edu	37	6	168434601	168434601	+	Silent	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr6:168434601C>T	ENST00000443060.2	+	5	598	c.207C>T	c.(205-207)agC>agT	p.S69S	KIF25_ENST00000354419.2_Silent_p.S69S|KIF25_ENST00000351261.3_Silent_p.S69S			Q9UIL4	KIF25_HUMAN	kinesin family member 25	69	Kinesin-motor.				microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		AGACGGGCAGCGGAAAGAGCT	0.517000													15	62					0	0	0.00316338	0	0
CELSR2	1952	broad.mit.edu	37	1	109812163	109812163	+	Silent	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr1:109812163G>A	ENST00000271332.3	+	21	6991	c.6930G>A	c.(6928-6930)gaG>gaA	p.E2310E		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2310					dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GCCTGCTGGAGACAGAGGAGC	0.607000													16	73					0	0	0.00400662	0	0
NHS	4810	broad.mit.edu	37	X	17744773	17744773	+	Silent	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chrX:17744773G>A	ENST00000380060.3	+	6	2822	c.2484G>A	c.(2482-2484)ccG>ccA	p.P828P	NHS_ENST00000398097.3_Silent_p.P672P	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	828						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					AGGCAAAGCCGACCCCACCTA	0.502000													29	141					0	0	0.00127121	0	0
STK33	65975	broad.mit.edu	37	11	8478907	8478907	+	Silent	SNP	T	T	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr11:8478907T>A	ENST00000447869.1	-	5	1596	c.678A>T	c.(676-678)atA>atT	p.I226I	STK33_ENST00000315204.1_Silent_p.I226I|STK33_ENST00000358872.3_Silent_p.I39I|STK33_ENST00000396672.1_Silent_p.I226I|STK33_ENST00000396673.1_Silent_p.I226I|STK33_ENST00000534493.1_Silent_p.I185I			Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	226	Protein kinase.					Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		GAAGATATGCTATAGCTGATG	0.388000													12	39					0	0	0.00136819	0	0
RAVER1	125950	broad.mit.edu	37	19	10444126	10444126	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr19:10444126C>T	ENST00000293677.6	-	1	190	c.109G>A	c.(109-111)Gaa>Aaa	p.E37K		NM_133452.2	NP_597709.2	Q8IY67	RAVR1_HUMAN	ribonucleoprotein, PTB-binding 1	20						cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding			breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			GCTTCGACTTCGGCCCCAGAC	0.692000													26	50					0	0	0.00395357	0	0
KMT2B	9757	broad.mit.edu	37	19	36228844	36228844	+	Splice_Site	SNP	G	G	C			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr19:36228844G>C	ENST00000222270.7	+	35	7742		c.e35+1		KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000420124.1_Splice_Site	NM_014727.1	NP_055542.1																					GTGTCTACAGGTGAGTGGGGT	0.612000													7	10					0	0	0.00198382	0	0
TMC4	147798	broad.mit.edu	37	19	54664964	54664964	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr19:54664964G>A	ENST00000376591.4	-	12	1869	c.1738C>T	c.(1738-1740)Cgc>Tgc	p.R580C	TMC4_ENST00000301187.4_Missense_Mutation_p.R574C|TMC4_ENST00000416963.1_Missense_Mutation_p.R162C	NM_001145303.1|NM_144686.2	NP_001138775.1|NP_653287.1	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	580						integral to membrane				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CGGAAGGTGCGGGCAGCCGGG	0.562000													8	19					0	0	0.00307968	0	0
PTCHD2	57540	broad.mit.edu	37	1	11579445	11579445	+	Silent	SNP	G	G	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr1:11579445G>T	ENST00000294484.6	+	8	2061	c.1923G>T	c.(1921-1923)ctG>ctT	p.L641L	PTCHD2_ENST00000389575.3_Silent_p.L641L	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	641					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		AGACCTCCCTGCACTTCCCCG	0.652000													55	159					7.06795e-37	2.13912e-36	0.00361006	1	0
GNB2	2783	broad.mit.edu	37	7	100276155	100276155	+	Silent	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr7:100276155C>T	ENST00000303210.4	+	9	1316	c.834C>T	c.(832-834)ttC>ttT	p.F278F	GNB2_ENST00000427895.1_Silent_p.F178F|GNB2_ENST00000424361.1_Silent_p.F234F|GNB2_ENST00000393926.1_Silent_p.F278F|GNB2_ENST00000393924.1_Silent_p.F278F|GNB2_ENST00000436220.1_Silent_p.F234F|GNB2_ENST00000419828.1_Silent_p.F178F	NM_005273.3	NP_005264.2	P62879	GBB2_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 2	278					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|synaptic transmission	perinuclear region of cytoplasm|plasma membrane	GTPase activity|GTPase binding|signal transducer activity			endometrium(1)|lung(3)|ovary(2)|prostate(1)	7	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)	Ovarian(593;0.238)				CTGTTGCCTTCTCGCGCAGCG	0.622000													19	48					0	0	0.00121646	0	0
EVA1A	84141	broad.mit.edu	37	2	75720729	75720729	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr2:75720729G>A	ENST00000233712.1	-	4	529	c.92C>T	c.(91-93)cCt>cTt	p.P31L	EVA1A_ENST00000410010.1_Missense_Mutation_p.P19L|EVA1A_ENST00000410071.1_Missense_Mutation_p.P31L|EVA1A_ENST00000490746.1_Intron|EVA1A_ENST00000410113.1_Missense_Mutation_p.P31L|EVA1A_ENST00000393913.3_Missense_Mutation_p.P31L	NM_032181.2	NP_115557.1			eva-1 homolog A (C. elegans)																		TGCTCGCTCAGGATTTTCTGG	0.517000													15	18					0	0	0.00316338	0	0
LRP6	4040	broad.mit.edu	37	12	12318022	12318022	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr12:12318022G>A	ENST00000261349.4	-	8	1829	c.1753C>T	c.(1753-1755)Cga>Tga	p.R585*	LRP6_ENST00000543091.1_Nonsense_Mutation_p.R585*	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	585	Beta-propeller 2.				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			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)				CCAATCACTCGATGAACATTT	0.423000													31	91					0	0	0.0024448	0	0
SULT1C3	442038	broad.mit.edu	37	2	108881304	108881304	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr2:108881304G>C	ENST00000329106.2	+	6	645	c.645G>C	c.(643-645)aaG>aaC	p.K215N		NM_001008743.1	NP_001008743.1	Q6IMI6	ST1C3_HUMAN	sulfotransferase family, cytosolic, 1C, member 3	215						cytoplasm	alcohol sulfotransferase activity			breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						AAATTGAGAAGATACTGAAGT	0.398000													6	29					0	0	0.00116845	0	0
UNC13C	440279	broad.mit.edu	37	15	54306178	54306178	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr15:54306178G>A	ENST00000545554.1	+	1	1078	c.1078G>A	c.(1078-1080)Gct>Act	p.A360T	UNC13C_ENST00000537900.1_Missense_Mutation_p.A360T|UNC13C_ENST00000260323.11_Missense_Mutation_p.A360T			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	360					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AATTGAATTTGCTCAGAGGAT	0.378000													12	31					0	0	0.000978159	0	0
MAP1A	4130	broad.mit.edu	37	15	43819190	43819190	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr15:43819190C>A	ENST00000382031.1	+	5	6264	c.6233C>A	c.(6232-6234)gCt>gAt	p.A2078D	MAP1A_ENST00000399453.1_Missense_Mutation_p.A1840D|MAP1A_ENST00000300231.5_Missense_Mutation_p.A1840D			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1840						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	TCATGGCTGGCTGACATCCCA	0.612000													21	56					1.87028e-06	5.15295e-06	0.00188189	1	0
C10orf54	64115	broad.mit.edu	37	10	73515124	73515124	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr10:73515124G>C	ENST00000394957.3	-	4	726	c.668C>G	c.(667-669)tCc>tGc	p.S223C	CDH23_ENST00000224721.6_Intron	NM_022153.1	NP_071436.1	Q9H7M9	GI24_HUMAN	chromosome 10 open reading frame 54	223						integral to membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	9						ACGGCGGTTGGAGGCTGCCTG	0.637000													7	18					0	0	0.00198382	0	0
ZSWIM4	65249	broad.mit.edu	37	19	13928082	13928082	+	Silent	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr19:13928082G>A	ENST00000254323.2	+	7	1422	c.1233G>A	c.(1231-1233)ggG>ggA	p.G411G	ZSWIM4_ENST00000440752.2_Silent_p.G245G	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	411							zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			GATGGGTGGGGCACCCCCTGG	0.622000													29	72					0	0	0.000878237	0	0
OR5M8	219484	broad.mit.edu	37	11	56258161	56258161	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr11:56258161G>C	ENST00000327216.2	-	1	710	c.686C>G	c.(685-687)tCt>tGt	p.S229C		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	229					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					GCCCTCTGTAGAGCGAATCTT	0.413000													8	47					0	0	0.00307968	0	0
AWAT1	158833	broad.mit.edu	37	X	69458111	69458111	+	Silent	SNP	C	C	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chrX:69458111C>A	ENST00000374521.3	+	5	551	c.510C>A	c.(508-510)ggC>ggA	p.G170G		NM_001013579.2	NP_001013597.1	Q58HT5	AWAT1_HUMAN	acyl-CoA wax alcohol acyltransferase 1	170					lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	long-chain-alcohol O-fatty-acyltransferase activity			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(3)|ovary(4)|skin(1)	15						TGAGCCATGGCACTGGCAACC	0.542000													30	76					2.85442e-18	8.44696e-18	0.00209593	1	0
AGAP7	653268	broad.mit.edu	37	10	51465428	51465428	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr10:51465428T>C	ENST00000374095.5	-	7	1153	c.1028A>G	c.(1027-1029)gAc>gGc	p.D343G		NM_001077685.1	NP_001071153.1	Q5VUJ5	AGAP7_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 7	343	PH.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						GGTGTCCATGTCCTTGGATAG	0.557000													48	221					0	0	0.00361006	0	0
LAMA4	3910	broad.mit.edu	37	6	112506519	112506519	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr6:112506519C>T	ENST00000230538.7	-	9	1394	c.997G>A	c.(997-999)Gcc>Acc	p.A333T	LAMA4_ENST00000522006.1_Missense_Mutation_p.A326T|LAMA4_ENST00000424408.2_Missense_Mutation_p.A326T|LAMA4_ENST00000389463.4_Missense_Mutation_p.A326T	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	333	Domain II and I.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TTTCTTAGGGCGTATTGGTTT	0.358000													26	111					0	0	0.00395357	0	0
TFE3	7030	broad.mit.edu	37	X	48891046	48891046	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chrX:48891046C>T	ENST00000315869.7	-	8	1329	c.1070G>A	c.(1069-1071)cGc>cAc	p.R357H	TFE3_ENST00000493583.1_5'UTR	NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN	transcription factor binding to IGHM enhancer 3	357					humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding		NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						GAATCGCCTGCGACGCTCAAC	0.532000			T	"""SFPQ, ASPSCR1, PRCC, NONO, CLTC"""	"""papillary renal, alveolar soft part sarcoma, renal"""								22	47					0	0	0.00229938	0	0
UNC5A	90249	broad.mit.edu	37	5	176306459	176306459	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr5:176306459G>A	ENST00000329542.4	+	14	2607	c.2333G>A	c.(2332-2334)cGg>cAg	p.R778Q	UNC5A_ENST00000261961.3_Missense_Mutation_p.R738Q	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	778	Death.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCCGACTGGCGGACTCTGGCC	0.677000													28	118					0	0	0.0024448	0	0
ABR	29	broad.mit.edu	37	17	961286	961286	+	Splice_Site	SNP	C	C	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr17:961286C>T	ENST00000544583.2	-	12	1767		c.e12-1		ABR_ENST00000573895.1_5'UTR|ABR_ENST00000302538.5_Splice_Site|ABR_ENST00000574437.1_Splice_Site|ABR_ENST00000291107.2_Splice_Site|ABR_ENST00000536794.2_Splice_Site	NM_001159746.2	NP_001153218.1	Q12979	ABR_HUMAN	active BCR-related						apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		ACAGGTAACTCTGAAGAGAGG	0.468000													9	30					0	0	0.000442599	0	0
CYP26C1	340665	broad.mit.edu	37	10	94828253	94828253	+	Silent	SNP	G	G	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr10:94828253G>A	ENST00000285949.5	+	6	1368	c.1368G>A	c.(1366-1368)gcG>gcA	p.A456A		NM_183374.2	NP_899230.2	Q6V0L0	CP26C_HUMAN	cytochrome P450, family 26, subfamily C, polypeptide 1	456					anterior/posterior pattern formation|central nervous system development|negative regulation of retinoic acid receptor signaling pathway|neural crest cell development|organelle fusion|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			central_nervous_system(1)|lung(3)|ovary(1)	5		Colorectal(252;0.122)				GCGGCGGTGCGCGCAGCTGCC	0.706000													5	24					0	0	0.000602214	0	0
XAF1	54739	broad.mit.edu	37	17	6665481	6665481	+	Silent	SNP	A	A	G			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr17:6665481A>G	ENST00000361842.3	+	5	668	c.429A>G	c.(427-429)agA>agG	p.R143R	XAF1_ENST00000346752.4_Silent_p.R124R|XAF1_ENST00000441631.1_Silent_p.R143R	NM_017523.3	NP_059993.2	Q6GPH4	XAF1_HUMAN	XIAP associated factor 1	143					apoptosis|type I interferon-mediated signaling pathway	mitochondrion|nucleus	zinc ion binding			large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	6						CAGGGGAAAGAATTTCAGCTC	0.413000													9	21					0	0	0.00448238	0	0
EPHA2	1969	broad.mit.edu	37	1	16475160	16475161	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr1:16475160_16475161insA	ENST00000358432.5	-	3	689_690	c.535_536insT	c.(535-537)cctfs	p.P179fs	EPHA2_ENST00000461614.1_5'UTR	NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	179					activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	GAAGGCCAGGTAGAAGCCTTTG	0.644													20	66	---	---	---	---					
C1orf172	126695	broad.mit.edu	37	1	27278782	27278783	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr1:27278782_27278783delAT	ENST00000320567.5	-	2	177_178	c.89_90delAT	c.(88-90)tfs	p.Y30fs		NM_152365.2	NP_689578.2	Q8NAX2	CA172_HUMAN	chromosome 1 open reading frame 172	30	Pro-rich.									NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		GTGGTTTATCATATGTCTCCAG	0.629													22	63	---	---	---	---					
CASP8	841	broad.mit.edu	37	2	202149546	202149551	+	In_Frame_Del	DEL	GACCAC	GACCAC	-	rs139337151		TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr2:202149546_202149551delGACCAC	ENST00000358485.4	+	8	1183_1188	c.987_992delGACCAC	c.(985-993)ttg>tt	p.LTT329del	CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000432109.2_In_Frame_Del_p.LTT270del|CASP8_ENST00000264274.9_In_Frame_Del_p.LTT186del|CASP8_ENST00000264275.5_In_Frame_Del_p.LTT287del|CASP8_ENST00000323492.7_In_Frame_Del_p.LTT255del	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	270					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						CAGGGGCTTTGACCACGACCTTTGAA	0.422										HNSCC(4;0.00038)			16	34	---	---	---	---					
FAT1	2195	broad.mit.edu	37	4	187534466	187534467	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr4:187534466_187534467insG	ENST00000441802.2	-	13	9468_9469	c.9259_9260insC	c.(9259-9261)tgafs	p.*3087fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3087	Cadherin 28.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TTGCTCCTCACGATCAAGGGGG	0.446										HNSCC(5;0.00058)			20	73	---	---	---	---					
FAT1	2195	broad.mit.edu	37	4	187539457	187539469	+	Frame_Shift_Del	DEL	CTTCAGTCTCCCG	CTTCAGTCTCCCG	-			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr4:187539457_187539469delCTTCAGTCTCCCG	ENST00000441802.2	-	10	8480_8492	c.8271_8283delCGGGAGACTGAAG	c.(8269-8283)agfs	p.SGRLK2757fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2757	Cadherin 25.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	p.G2758W(1)|p.G2761R(1)|p.G2761W(1)|p.G2758R(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TCTTCTCCAACTTCAGTCTCCCGCTCTGTCTGT	0.465										HNSCC(5;0.00058)			49	166	---	---	---	---					
C6orf223	221416	broad.mit.edu	37	6	43970503	43970504	+	In_Frame_Ins	INS	-	-	GCG	rs72369323		TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr6:43970503_43970504insGCG	ENST00000336600.5	+	4	389_390	c.369_370insGCG	c.(367-372)cgcggc>cgGCGcggc	p.123_124insR	RP5-1120P11.1_ENST00000422059.1_RNA|C6orf223_ENST00000448947.2_3'UTR|RP5-1120P11.1_ENST00000607590.1_RNA|C6orf223_ENST00000439969.2_3'UTR	NM_001171992.1|NM_153246.4	NP_001165463.1|NP_694978.2	Q8N319	CF223_HUMAN	chromosome 6 open reading frame 223	123										central_nervous_system(1)|lung(2)|pancreas(1)|prostate(1)|urinary_tract(1)	6	all_cancers(18;2.28e-07)|all_epithelial(2;1.62e-08)|Lung NSC(15;0.000172)|all_lung(25;0.000533)|Hepatocellular(11;0.00309)|Ovarian(13;0.0437)		all cancers(41;0.00141)|Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.217)			CGGTAGAGCGCgcggcggcggc	0.777													8	10	---	---	---	---					
PODXL	5420	broad.mit.edu	37	7	131241029	131241030	+	In_Frame_Ins	INS	-	-	GGCGAC	rs11277659	by1000genomes	TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr7:131241029_131241030insGGCGAC	ENST00000541194.1	-	1	346_347	c.89_90insGTCGCC	c.(88-90)ctc>cGTCGCCtc	p.29_30insRR	PODXL_ENST00000465001.1_Intron|PODXL_ENST00000378555.3_In_Frame_Ins_p.29_30insRR|PODXL_ENST00000322985.9_In_Frame_Ins_p.29_30insRR|PODXL_ENST00000537928.1_In_Frame_Ins_p.29_30insRR	NM_001018111.2	NP_001018121.1	O00592	PODXL_HUMAN	podocalyxin-like	29					cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle		p.P30_S31delPS(2)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					CATTCTGGGAGggcgacggcga	0.752													2	4	---	---	---	---					
ARID2	196528	broad.mit.edu	37	12	46123891	46123892	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr12:46123891_46123892delAG	ENST00000334344.6	+	2	329_330	c.157_158delAG	c.(157-159)afs	p.R53fs	ARID2_ENST00000422737.1_5'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	53	ARID.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TCTCTACACCAGAGTCACTACT	0.530			"""N, S, F"""		hepatocellular carcinoma								10	30	---	---	---	---					
KMT2D	8085	broad.mit.edu	37	12	49420671	49420672	+	Frame_Shift_Ins	INS	-	-	GGTA			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr12:49420671_49420672insGGTA	ENST00000301067.7	-	48	15076_15077	c.15077_15078insTACC	c.(15076-15078)ccgfs	p.-5025fs		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		GCATGTCTCGCGGTACCTTGTC	0.624													17	88	---	---	---	---					
ARGLU1	55082	broad.mit.edu	37	13	107219952	107219953	+	In_Frame_Ins	INS	-	-	CTC			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr13:107219952_107219953insCTC	ENST00000400198.3	-	1	559_560	c.315_316insGAG	c.(313-318)gaagaa>gaGAGagaa	p.105_106EE>ERE		NM_018011.3	NP_060481.3	Q9NWB6	ARGL1_HUMAN	arginine and glutamate rich 1	105	Glu-rich.									large_intestine(1)|lung(5)|pancreas(1)	7	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					TCCGCTTTCTTCTCCTCCTCCT	0.713													20	86	---	---	---	---					
TMEM121	80757	broad.mit.edu	37	14	105996050	105996052	+	In_Frame_Del	DEL	GCC	GCC	-	rs5811180		TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr14:105996050_105996052delGCC	ENST00000392519.2	+	2	1043_1045	c.879_881delGCC	c.(877-882)gtg>gt	p.VP293del	TMEM121_ENST00000431372.1_In_Frame_Del_p.VP293del	NM_025268.2	NP_079544.1	Q9BTD3	TM121_HUMAN	transmembrane protein 121	293	Pro-rich.					integral to membrane				endometrium(2)|lung(1)	3		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)	Epithelial(152;0.0959)|all cancers(159;0.235)		GCAACTCGGTgccgccgccgccg	0.768													3	3	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7578267	7578268	+	Frame_Shift_Ins	INS	-	-	AG			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr17:7578267_7578268insAG	ENST00000420246.2	-	6	713_714	c.581_582insCT	c.(580-582)catfs	p.H194fs	TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Frame_Shift_Ins_p.H194fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.H194fs|TP53_ENST00000269305.4_Frame_Shift_Ins_p.H194fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.H194fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.H194fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	194	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		L -> F (in sporadic cancers; somatic mutation).|L -> H (in sporadic cancers; somatic mutation).|L -> I (in sporadic cancers; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).|L -> V (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.L194R(47)|p.L194P(8)|p.L194H(8)|p.0?(8)|p.?(6)|p.L101R(5)|p.L62R(5)|p.L194L(4)|p.I195fs*52(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.P191fs*53(2)|p.P191fs*6(1)|p.I102fs*52(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.I195fs*14(1)|p.I195fs*12(1)|p.I195fs*50(1)|p.L194fs*15(1)|p.L194fs*14(1)|p.L101H(1)|p.L194fs*52(1)|p.P98_E105>Q(1)|p.A189fs*53(1)|p.I63fs*>28(1)|p.L62H(1)|p.H193_I195>AP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CCACTCGGATAAGATGCTGAGG	0.554		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)			20	47	---	---	---	---					
GMIP	51291	broad.mit.edu	37	19	19744918	19744929	+	In_Frame_Del	DEL	CGGCGGCCGCAG	CGGCGGCCGCAG	-	rs146830752	by1000genomes	TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr19:19744918_19744929delCGGCGGCCGCAG	ENST00000203556.4	-	19	2292_2303	c.2155_2166delCTGCGGCCGCCG	c.(2155-2166)del	p.LRPP719del	GMIP_ENST00000586269.1_5'UTR|GMIP_ENST00000445806.2_In_Frame_Del_p.LRPP690del|GMIP_ENST00000587238.1_In_Frame_Del_p.LRPP693del	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	719	Rho-GAP.				negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						GCGGGCCGTCCGGCGGCCGCAGCAGTGTCGGC	0.613													9	68	---	---	---	---					
KMT2B	9757	broad.mit.edu	37	19	36218454	36218474	+	In_Frame_Del	DEL	GGGCCTGCGCCAGGTGCTCCA	GGGCCTGCGCCAGGTGCTCCA	-			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr19:36218454_36218474delGGGCCTGCGCCAGGTGCTCCA	ENST00000222270.7	+	16	4233_4253	c.4233_4253delGGGCCTGCGCCAGGTGCTCCA	c.(4231-4254)ggg>gg	p.GGLRQVLQ1411del	KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000420124.1_In_Frame_Del_p.GGLRQVLQ1411del	NM_014727.1	NP_055542.1																					CCCTCCAGGGGGGCCTGCGCCAGGTGCTCCAGGGCCTGCTG	0.724													17	86	---	---	---	---					
DLGAP4	22839	broad.mit.edu	37	20	35075135	35075135	+	Frame_Shift_Del	DEL	G	G	-	rs112014857		TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chr20:35075135delG	ENST00000373913.3	+	7	1923	c.1443delG	c.(1441-1443)gcfs	p.A482fs	DLGAP4_ENST00000401952.2_Frame_Shift_Del_p.A482fs|DLGAP4_ENST00000339266.5_Frame_Shift_Del_p.A482fs|DLGAP4_ENST00000373907.2_Frame_Shift_Del_p.A482fs			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	482					cell-cell signaling	membrane	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				AGTATGAGGCGGCCTGCGAGT	0.632													11	26	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76920172	76920173	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	129a2324-5efb-4d86-b7ee-5534e24cf638	g.chrX:76920172_76920173insT	ENST00000373344.5	-	11	4118_4119	c.3904_3905insA	c.(3904-3906)aacfs	p.N1302fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Ins_p.N1264fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1302					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.R1302fs*7(1)|p.?(1)|p.R1302fs*44(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TTTTCCAGTTCTTTTTTTCCCT	0.376			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						8	118	---	---	---	---					
EPHA2	1969	broad.mit.edu	37	1	16475160	16475161	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr1:16475160_16475161insA	ENST00000358432.5	-	3	689_690	c.535_536insT	c.(535-537)cctfs	p.P179fs	EPHA2_ENST00000461614.1_5'UTR	NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	179					activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	GAAGGCCAGGTAGAAGCCTTTG	0.644													20	66	---	---	---	---					
C1orf172	126695	broad.mit.edu	37	1	27278782	27278783	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr1:27278782_27278783delAT	ENST00000320567.5	-	2	177_178	c.89_90delAT	c.(88-90)tfs	p.Y30fs		NM_152365.2	NP_689578.2	Q8NAX2	CA172_HUMAN	chromosome 1 open reading frame 172	30	Pro-rich.									NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		GTGGTTTATCATATGTCTCCAG	0.629													22	63	---	---	---	---					
CASP8	841	broad.mit.edu	37	2	202149546	202149551	+	In_Frame_Del	DEL	GACCAC	GACCAC	-	rs139337151		TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr2:202149546_202149551delGACCAC	ENST00000358485.4	+	8	1183_1188	c.987_992delGACCAC	c.(985-993)ttg>tt	p.LTT329del	CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000264274.9_In_Frame_Del_p.LTT186del|CASP8_ENST00000264275.5_In_Frame_Del_p.LTT287del|CASP8_ENST00000323492.7_In_Frame_Del_p.LTT255del|CASP8_ENST00000432109.2_In_Frame_Del_p.LTT270del	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	270					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						CAGGGGCTTTGACCACGACCTTTGAA	0.422										HNSCC(4;0.00038)			16	34	---	---	---	---					
FAT1	2195	broad.mit.edu	37	4	187534466	187534467	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr4:187534466_187534467insG	ENST00000441802.2	-	13	9468_9469	c.9259_9260insC	c.(9259-9261)tgafs	p.*3087fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3087	Cadherin 28.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TTGCTCCTCACGATCAAGGGGG	0.446										HNSCC(5;0.00058)			20	73	---	---	---	---					
FAT1	2195	broad.mit.edu	37	4	187539457	187539469	+	Frame_Shift_Del	DEL	CTTCAGTCTCCCG	CTTCAGTCTCCCG	-			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr4:187539457_187539469delCTTCAGTCTCCCG	ENST00000441802.2	-	10	8480_8492	c.8271_8283delCGGGAGACTGAAG	c.(8269-8283)agfs	p.SGRLK2757fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2757	Cadherin 25.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	p.G2758W(1)|p.G2761R(1)|p.G2761W(1)|p.G2758R(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TCTTCTCCAACTTCAGTCTCCCGCTCTGTCTGT	0.465										HNSCC(5;0.00058)			49	166	---	---	---	---					
RP5-905H7.3	0	broad.mit.edu	37	7	62701951	62701952	+	RNA	INS	-	-	A			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr7:62701951_62701952insA	ENST00000451381.1	-	0	55																											CTTTTTTGGAGAAAAAATATAT	0.337													5	1	---	---	---	---					
ARID2	196528	broad.mit.edu	37	12	46123891	46123892	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr12:46123891_46123892delAG	ENST00000334344.6	+	2	329_330	c.157_158delAG	c.(157-159)afs	p.R53fs	ARID2_ENST00000422737.1_5'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	53	ARID.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TCTCTACACCAGAGTCACTACT	0.530			"""N, S, F"""		hepatocellular carcinoma								10	30	---	---	---	---					
KMT2D	8085	broad.mit.edu	37	12	49420671	49420672	+	Frame_Shift_Ins	INS	-	-	GGTA			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr12:49420671_49420672insGGTA	ENST00000301067.7	-	48	15076_15077	c.15077_15078insTACC	c.(15076-15078)ccgfs	p.-5025fs		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		GCATGTCTCGCGGTACCTTGTC	0.624													17	88	---	---	---	---					
ARGLU1	55082	broad.mit.edu	37	13	107219952	107219953	+	In_Frame_Ins	INS	-	-	CTC			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr13:107219952_107219953insCTC	ENST00000400198.3	-	1	559_560	c.315_316insGAG	c.(313-318)gaagaa>gaGAGagaa	p.105_106EE>ERE		NM_018011.3	NP_060481.3	Q9NWB6	ARGL1_HUMAN	arginine and glutamate rich 1	105	Glu-rich.									large_intestine(1)|lung(5)|pancreas(1)	7	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					TCCGCTTTCTTCTCCTCCTCCT	0.713													20	86	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7578267	7578268	+	Frame_Shift_Ins	INS	-	-	AG			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr17:7578267_7578268insAG	ENST00000420246.2	-	6	713_714	c.581_582insCT	c.(580-582)catfs	p.H194fs	TP53_ENST00000455263.2_Frame_Shift_Ins_p.H194fs|TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Frame_Shift_Ins_p.H194fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.H194fs|TP53_ENST00000269305.4_Frame_Shift_Ins_p.H194fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.H194fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	194	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		L -> F (in sporadic cancers; somatic mutation).|L -> H (in sporadic cancers; somatic mutation).|L -> I (in sporadic cancers; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).|L -> V (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.L194R(47)|p.L194P(8)|p.L194H(8)|p.0?(8)|p.?(6)|p.L101R(5)|p.L62R(5)|p.L194L(4)|p.I195fs*52(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.P191fs*53(2)|p.P191fs*6(1)|p.I102fs*52(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.I195fs*14(1)|p.I195fs*12(1)|p.I195fs*50(1)|p.L194fs*15(1)|p.L194fs*14(1)|p.L101H(1)|p.L194fs*52(1)|p.P98_E105>Q(1)|p.A189fs*53(1)|p.I63fs*>28(1)|p.L62H(1)|p.H193_I195>AP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CCACTCGGATAAGATGCTGAGG	0.554		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)			20	47	---	---	---	---					
CCDC144B	284047	broad.mit.edu	37	17	18498497	18498498	+	RNA	INS	-	-	A	rs72195768		TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr17:18498497_18498498insA	ENST00000442583.1	-	0	749																				NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(6)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	36						CTGCAGGCCTGAAAAAAAAAAA	0.243													4	3	---	---	---	---					
YIPF2	78992	broad.mit.edu	37	19	11038362	11038364	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr19:11038362_11038364delGCT	ENST00000586748.1	-	4	393_395	c.221_223delAGC	c.(220-225)ccg>c	p.QP74del	YIPF2_ENST00000590329.1_In_Frame_Del_p.QP74del|YIPF2_ENST00000253031.2_In_Frame_Del_p.QP74del			Q9BWQ6	YIPF2_HUMAN	Yip1 domain family, member 2	74						integral to membrane|transport vesicle				cervix(1)|endometrium(1)|lung(3)|ovary(2)	7						CAGAATCCCGgctgctgctgctg	0.621													8	66	---	---	---	---					
GMIP	51291	broad.mit.edu	37	19	19744918	19744929	+	In_Frame_Del	DEL	CGGCGGCCGCAG	CGGCGGCCGCAG	-	rs146830752	by1000genomes	TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr19:19744918_19744929delCGGCGGCCGCAG	ENST00000203556.4	-	19	2292_2303	c.2155_2166delCTGCGGCCGCCG	c.(2155-2166)del	p.LRPP719del	GMIP_ENST00000586269.1_5'UTR|GMIP_ENST00000587238.1_In_Frame_Del_p.LRPP693del|GMIP_ENST00000445806.2_In_Frame_Del_p.LRPP690del	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	719	Rho-GAP.				negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						GCGGGCCGTCCGGCGGCCGCAGCAGTGTCGGC	0.613													9	68	---	---	---	---					
KMT2B	9757	broad.mit.edu	37	19	36218454	36218474	+	In_Frame_Del	DEL	GGGCCTGCGCCAGGTGCTCCA	GGGCCTGCGCCAGGTGCTCCA	-			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr19:36218454_36218474delGGGCCTGCGCCAGGTGCTCCA	ENST00000222270.7	+	16	4233_4253	c.4233_4253delGGGCCTGCGCCAGGTGCTCCA	c.(4231-4254)ggg>gg	p.GGLRQVLQ1411del	WBP7_ENST00000420124.1_In_Frame_Del_p.GGLRQVLQ1411del|KMT2B_ENST00000607650.1_RNA	NM_014727.1	NP_055542.1																					CCCTCCAGGGGGGCCTGCGCCAGGTGCTCCAGGGCCTGCTG	0.724													17	86	---	---	---	---					
DLGAP4	22839	broad.mit.edu	37	20	35075135	35075135	+	Frame_Shift_Del	DEL	G	G	-	rs112014857		TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chr20:35075135delG	ENST00000373913.3	+	7	1923	c.1443delG	c.(1441-1443)gcfs	p.A482fs	DLGAP4_ENST00000373907.2_Frame_Shift_Del_p.A482fs|DLGAP4_ENST00000401952.2_Frame_Shift_Del_p.A482fs|DLGAP4_ENST00000339266.5_Frame_Shift_Del_p.A482fs			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	482					cell-cell signaling	membrane	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				AGTATGAGGCGGCCTGCGAGT	0.632													11	26	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76920172	76920173	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-7252-01A-11D-2012-08	TCGA-CV-7252-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9692c6b2-ce97-4c92-a0dd-f27d01a94e6e	3ca6c16c-0424-4e47-82d0-9e25e253944b	g.chrX:76920172_76920173insT	ENST00000373344.5	-	11	4118_4119	c.3904_3905insA	c.(3904-3906)aacfs	p.N1302fs	ATRX_ENST00000395603.3_Frame_Shift_Ins_p.N1264fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1302					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.R1302fs*7(1)|p.?(1)|p.R1302fs*44(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TTTTCCAGTTCTTTTTTTCCCT	0.376			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						8	118	---	---	---	---					
