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
SDR42E1	93517	broad.mit.edu	37	16	82033306	82033306	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr16:82033306G>T	ENST00000328945.5	-	3	719	c.592C>A	c.(592-594)Ccc>Acc	p.P198T		NM_145168.2	NP_660151.2	Q8WUS8	D42E1_HUMAN	short chain dehydrogenase/reductase family 42E, member 1	198					steroid biosynthetic process	integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding			NS(2)|endometrium(1)|lung(4)|skin(3)	10						ACTATCCTGGGAAGGTGTCTT	0.562000													19	100					1.50039e-11	1.76912e-11	0.608945	1	0
RGMA	56963	broad.mit.edu	37	15	93595681	93595681	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr15:93595681C>A	ENST00000329082.7	-	3	458	c.187G>T	c.(187-189)Ggc>Tgc	p.G63C	RGMA_ENST00000542321.2_Missense_Mutation_p.G47C|RGMA_ENST00000555584.1_5'UTR|RGMA_ENST00000556658.1_5'UTR|RGMA_ENST00000425933.2_Missense_Mutation_p.G47C|RGMA_ENST00000543599.1_Missense_Mutation_p.G47C|RGMA_ENST00000557420.1_Intron|RGMA_ENST00000538818.1_5'UTR|RGMA_ENST00000556087.1_Missense_Mutation_p.G47C|RGMA_ENST00000557301.1_Missense_Mutation_p.G71C	NM_020211.2	NP_064596.2	Q96B86	RGMA_HUMAN	repulsive guidance molecule family member a	63					axon guidance	anchored to membrane|endoplasmic reticulum|plasma membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	9	Lung NSC(78;0.0542)|all_lung(78;0.0786)		BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108)			GCGTGGCTGCCCGACGTGGCG	0.672000													3	15					0.00909568	0.00915361	0.150653	1	0
RXFP2	122042	broad.mit.edu	37	13	32367045	32367045	+	Missense_Mutation	SNP	C	C	T	rs142857153	byFrequency	TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr13:32367045C>T	ENST00000298386.2	+	16	1677	c.1606C>T	c.(1606-1608)Cgg>Tgg	p.R536W	RXFP2_ENST00000380314.1_Missense_Mutation_p.R512W	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	536						integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		ACCTGGAAAACGGCAGACCTC	0.428000													7	31					0	0	0.278610	0	0
IGDCC4	57722	broad.mit.edu	37	15	65693167	65693167	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr15:65693167G>A	ENST00000352385.2	-	5	1027	c.818C>T	c.(817-819)cCt>cTt	p.P273L		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	273	Ig-like C2-type 3.					integral to membrane|plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						GGACACAAAAGGGGTGGGGTC	0.612000											OREG0023196	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	71					0	0	0.184627	0	0
CPS1	1373	broad.mit.edu	37	2	211464248	211464248	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr2:211464248A>T	ENST00000233072.5	+	14	1708	c.1512A>T	c.(1510-1512)ttA>ttT	p.L504F	CPS1_ENST00000451903.2_Missense_Mutation_p.L53F|CPS1_ENST00000430249.2_Missense_Mutation_p.L510F	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	504					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		CAGATGGGTTAATTCTGGGCA	0.453000													18	54					0	0	0.608945	0	0
UNC13B	10497	broad.mit.edu	37	9	35389887	35389887	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr9:35389887C>A	ENST00000378495.3	+	24	3114	c.2892C>A	c.(2890-2892)aaC>aaA	p.N964K	UNC13B_ENST00000378496.4_Missense_Mutation_p.N964K|UNC13B_ENST00000396787.1_Missense_Mutation_p.N976K	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	964					excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			GCATTCGGAACCTGGATTTCT	0.483000													23	83					1.50039e-11	1.76912e-11	0.608945	1	0
CEP41	95681	broad.mit.edu	37	7	130039889	130039889	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr7:130039889C>A	ENST00000223208.4	-	10	1234	c.964G>T	c.(964-966)Gat>Tat	p.D322Y	CEP41_ENST00000343969.5_Intron|CEP41_ENST00000541543.1_Intron	NM_001257158.1|NM_018718.2	NP_001244087.1|NP_061188.1	Q9BYV8	CEP41_HUMAN	centrosomal protein 41kDa	322					G2/M transition of mitotic cell cycle	centrosome|cytosol											CTAGGATGATCTGCAGGCCCT	0.383000													14	74					1.5842e-08	1.81379e-08	0.435327	1	0
TNFRSF13C	115650	broad.mit.edu	37	22	42322238	42322238	+	Silent	SNP	G	G	C			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr22:42322238G>C	ENST00000291232.3	-	2	278	c.234C>G	c.(232-234)ctC>ctG	p.L78L		NM_052945.3	NP_443177.1	Q96RJ3	TR13C_HUMAN	tumor necrosis factor receptor superfamily, member 13C	78						integral to membrane	receptor activity			lung(2)|urinary_tract(1)	3						GGGCGCCAAAGAGCAGCCCGG	0.791000													3	6					0	0	0.115264	0	0
RBM12B	389677	broad.mit.edu	37	8	94748464	94748464	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr8:94748464G>A	ENST00000399300.2	-	3	388	c.175C>T	c.(175-177)Cgt>Tgt	p.R59C	RBM12B_ENST00000517700.1_Missense_Mutation_p.R59C|RBM12B_ENST00000520961.1_Intron	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	59							nucleotide binding|RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			CCTCCTGAACGACTTATGGCA	0.403000													31	99					0	0	0.729181	0	0
NOTCH1	4851	broad.mit.edu	37	9	139401394	139401394	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr9:139401394G>T	ENST00000277541.6	-	23	3750	c.3675C>A	c.(3673-3675)tgC>tgA	p.C1225*		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1225	EGF-like 32; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CGGGGGGATTGCAGTCGTCCA	0.687000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			3	6					0.00024832	0.000256435	0.150653	1	0
SPTAN1	6709	broad.mit.edu	37	9	131345356	131345356	+	Splice_Site	SNP	G	G	T			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr9:131345356G>T	ENST00000358161.5	+	15	1920	c.1806_splice	c.e15-1	p.D603_splice	SPTAN1_ENST00000372731.4_Splice_Site_p.D603_splice|SPTAN1_ENST00000372739.3_Splice_Site_p.D603_splice			Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	603					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						TTATTCACAGGATCCATCCAA	0.438000													8	27					0.00307968	0.00311916	0.278610	1	0
SCGB1C1	147199	broad.mit.edu	37	11	193783	193783	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr11:193783G>A	ENST00000342878.2	+	2	147	c.127G>A	c.(127-129)Gag>Aag	p.E43K	BET1L_ENST00000410108.1_Intron	NM_145651.2	NP_663626.2	Q8TD33	SG1C1_HUMAN	secretoglobin, family 1C, member 1	43						extracellular region	binding			endometrium(1)|liver(2)|lung(1)|skin(1)	5		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;3.95e-27)|Epithelial(43;2.66e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.55e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		GGGGACCCCAGAGGAGCTCTA	0.532000													5	50					0	0	0.184627	0	0
SYNE1	23345	broad.mit.edu	37	6	152647096	152647096	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr6:152647096G>T	ENST00000367255.5	-	80	16036	c.15435C>A	c.(15433-15435)caC>caA	p.H5145Q	SYNE1_ENST00000448038.1_Missense_Mutation_p.H5074Q|SYNE1_ENST00000341594.5_Intron|SYNE1_ENST00000423061.1_Missense_Mutation_p.H5074Q|SYNE1_ENST00000265368.4_Missense_Mutation_p.H5145Q	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5145					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTCTGACCTTGTGTTCTGACA	0.313000										HNSCC(10;0.0054)			4	31					0.00024832	0.000256435	0.150653	1	0
CEP152	22995	broad.mit.edu	37	15	49052415	49052415	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr15:49052415G>A	ENST00000380950.2	-	19	2798	c.2611C>T	c.(2611-2613)Cca>Tca	p.P871S	CEP152_ENST00000325747.5_Missense_Mutation_p.P778S|CEP152_ENST00000399334.3_Missense_Mutation_p.P871S	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	871					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		GCCAGCTCTGGTAGTTCTCCC	0.428000													17	66					0	0	0.557998	0	0
TECTA	7007	broad.mit.edu	37	11	121000377	121000377	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr11:121000377T>C	ENST00000392793.1	+	10	2669	c.2398T>C	c.(2398-2400)Ttc>Ctc	p.F800L	TECTA_ENST00000264037.2_Missense_Mutation_p.F800L			O75443	TECTA_HUMAN	tectorin alpha	800	VWFD 2.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		ATTGCCTTTTTTCCATCCTTC	0.438000													25	69					0	0	0.681144	0	0
STAB1	23166	broad.mit.edu	37	3	52552020	52552020	+	Splice_Site	SNP	G	G	C			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr3:52552020G>C	ENST00000321725.6	+	45	4837		c.e45+1			NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1						cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		AGTCGGCCTGGTAATGATGCC	0.612000													11	49					0	0	0.411799	0	0
FAM131C	348487	broad.mit.edu	37	1	16385163	16385163	+	Silent	SNP	C	C	T			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr1:16385163C>T	ENST00000375662.4	-	7	795	c.612G>A	c.(610-612)caG>caA	p.Q204Q	FAM131C_ENST00000494078.1_5'UTR	NM_182623.2	NP_872429.2	Q96AQ9	F131C_HUMAN	family with sequence similarity 131, member C	204										large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.32e-08)|COAD - Colon adenocarcinoma(227;5.56e-06)|BRCA - Breast invasive adenocarcinoma(304;9.12e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		GGCTGTCATCCTGTGAGGGGC	0.652000													2	4					0	0	0.115264	0	0
SCAF8	22828	broad.mit.edu	37	6	155153217	155153217	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr6:155153217C>T	ENST00000367178.3	+	20	3080	c.2504C>T	c.(2503-2505)tCc>tTc	p.S835F	SCAF8_ENST00000367186.4_Missense_Mutation_p.S901F|SCAF8_ENST00000417268.1_Missense_Mutation_p.S835F	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	835	Pro-rich.				mRNA processing|RNA splicing	nuclear matrix|spliceosomal complex	nucleotide binding|RNA binding|RNA polymerase core enzyme binding			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						TCTAATGTTTCCAGTAGTTCT	0.423000													11	84					0	0	0.361761	0	0
USP29	57663	broad.mit.edu	37	19	57642147	57642147	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr19:57642147G>C	ENST00000254181.4	+	4	2558	c.2104G>C	c.(2104-2106)Gag>Cag	p.E702Q	USP29_ENST00000598197.1_Missense_Mutation_p.E702Q	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	702					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TACATTCGTAGAGTTCAATTT	0.443000													15	40					0	0	0.479597	0	0
ATP2A1	487	broad.mit.edu	37	16	28906272	28906272	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr16:28906272T>C	ENST00000395503.4	+	12	1601	c.1417T>C	c.(1417-1419)Tcg>Ccg	p.S473P	ATP2A1_ENST00000536376.1_Missense_Mutation_p.S348P|ATP2A1_ENST00000357084.3_Missense_Mutation_p.S473P	NM_004320.4	NP_004311.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	473					apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						CGCCTGCAACTCGGTGAGCCT	0.602000													4	21					0	0	0.150653	0	0
APOA2	336	broad.mit.edu	37	1	161192086	161192086	+	Silent	SNP	T	T	C			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr1:161192086T>C	ENST00000594609.1	+	2	21	c.21T>C	c.(19-21)gaT>gaC	p.D7D	APOA2_ENST00000367990.3_3'UTR|APOA2_ENST00000481413.1_5'UTR																							CAGAGCTGGATTCATTCAGCA	0.502000													8	35					0	0	0.278610	0	0
MRC2	9902	broad.mit.edu	37	17	60744755	60744755	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr17:60744755G>C	ENST00000303375.5	+	6	1380	c.978G>C	c.(976-978)caG>caC	p.Q326H		NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	326	C-type lectin 1.				endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						CCACAGACCAGCCGGACAACC	0.667000													5	30					0	0	0.217242	0	0
CCDC180	100499483	broad.mit.edu	37	9	100137790	100137790	+	Silent	SNP	C	C	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr9:100137790C>A	ENST00000375202.2	+	50	6245	c.4893C>A	c.(4891-4893)ctC>ctA	p.L1631L	CCDC180_ENST00000395220.1_3'UTR|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000357054.1_Silent_p.L1576L|CCDC180_ENST00000529487.1_Silent_p.L1631L					coiled-coil domain containing 180																		AGATTCTTCTCCAGCCAACAT	0.522000													14	50					3.27435e-08	3.69534e-08	0.457914	1	0
A4GNT	51146	broad.mit.edu	37	3	137850095	137850095	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr3:137850095G>A	ENST00000236709.3	-	2	205	c.4C>T	c.(4-6)Cgg>Tgg	p.R2W		NM_016161.2	NP_057245.1	Q9UNA3	A4GCT_HUMAN	alpha-1,4-N-acetylglucosaminyltransferase	2					protein O-linked glycosylation	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	acetylglucosaminyltransferase activity|galactosyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)	16						AGCTCCTTCCGCATGTCCTCT	0.473000													6	26					0	0	0.217242	0	0
DHRS7B	25979	broad.mit.edu	37	17	21094308	21094308	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr17:21094308C>G	ENST00000395511.3	+	7	1140	c.820C>G	c.(820-822)Cag>Gag	p.Q274E	DHRS7B_ENST00000581463.1_Intron|DHRS7B_ENST00000579303.1_Missense_Mutation_p.Q259E	NM_015510.4	NP_056325.2	Q6IAN0	DRS7B_HUMAN	dehydrogenase/reductase (SDR family) member 7B	274						integral to membrane|peroxisomal membrane	binding|oxidoreductase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|pancreas(2)	7						GGAGGTGGCCCAGGATGTTCT	0.498000													17	90					0	0	0.500413	0	0
ABCB4	5244	broad.mit.edu	37	7	87081037	87081037	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr7:87081037C>T	ENST00000265723.4	-	7	721	c.610G>A	c.(610-612)Gca>Aca	p.A204T	ABCB4_ENST00000453593.1_Missense_Mutation_p.A204T|ABCB4_ENST00000358400.3_Missense_Mutation_p.A204T|ABCB4_ENST00000359206.3_Missense_Mutation_p.A204T|ABCB4_ENST00000545634.1_Missense_Mutation_p.A204T	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	204	ABC transmembrane type-1 1.				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					ATGAATCCTGCAAAAAACGTG	0.443000													15	76					0	0	0.479597	0	0
VPS11	55823	broad.mit.edu	37	11	118948900	118948900	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr11:118948900C>A	ENST00000300793.6	+	12	1818	c.1776C>A	c.(1774-1776)ttC>ttA	p.F592L	VPS11_ENST00000527798.1_3'UTR	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11 homolog (S. cerevisiae)	593					protein transport	endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		CTGAGGAGTTCATCCCCATCT	0.532000													32	134					4.31634e-10	5.05171e-10	0.760397	1	0
BOD1L1	259282	broad.mit.edu	37	4	13602988	13602988	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr4:13602988C>A	ENST00000040738.5	-	10	5671	c.5536G>T	c.(5536-5538)Gct>Tct	p.A1846S		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	1846							DNA binding										CAAGGACCAGCAGCAACTAAT	0.473000													14	67					0.000219431	0.000229604	0.457914	1	0
TRPC3	7222	broad.mit.edu	37	4	122800994	122800994	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr4:122800994C>T	ENST00000264811.5	-	11	2862	c.2444G>A	c.(2443-2445)cGt>cAt	p.R815H	TRPC3_ENST00000379645.3_Missense_Mutation_p.R888H|TRPC3_ENST00000513531.1_Missense_Mutation_p.R760H	NM_003305.2	NP_003296.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	803					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						AAGTTCATAACGAAGGCTGGA	0.333000													9	28					0	0	0.307466	0	0
CCDC135	84229	broad.mit.edu	37	16	57762377	57762377	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr16:57762377C>A	ENST00000360716.3	+	17	2493	c.2272C>A	c.(2272-2274)Ctc>Atc	p.L758I	CCDC135_ENST00000336825.8_Missense_Mutation_p.L693I|CCDC135_ENST00000394337.4_Missense_Mutation_p.L758I			Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	758						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						CCTGGCCCAGCTCCCGCCAGG	0.602000													13	72					2.27111e-07	2.50934e-07	0.411799	1	0
AOC2	314	broad.mit.edu	37	17	40997732	40997732	+	Silent	SNP	A	A	T			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr17:40997732A>T	ENST00000253799.3	+	1	1116	c.1089A>T	c.(1087-1089)gtA>gtT	p.V363V	AOC2_ENST00000452774.2_Silent_p.V363V	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)	363					catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		AGGAGTGTGTATCTATCTATG	0.532000													28	105					0	0	0.706142	0	0
FMNL3	91010	broad.mit.edu	37	12	50043581	50043581	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr12:50043581C>G	ENST00000335154.5	-	18	2361	c.2128G>C	c.(2128-2130)Gag>Cag	p.E710Q	FMNL3_ENST00000352151.5_Missense_Mutation_p.E659Q|FMNL3_ENST00000293590.5_Missense_Mutation_p.E710Q|FMNL3_ENST00000550488.1_Missense_Mutation_p.E710Q	NM_175736.4	NP_783863.4	Q8IVF7	FMNL3_HUMAN	formin-like 3	710	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						AAGCGGTCCTCAGCTGCCAAC	0.602000													18	63					0	0	0.520397	0	0
TNFRSF13C	115650	broad.mit.edu	37	22	42322147	42322147	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr22:42322147G>C	ENST00000291232.3	-	2	369	c.325C>G	c.(325-327)Cgc>Ggc	p.R109G		NM_052945.3	NP_443177.1	Q96RJ3	TR13C_HUMAN	tumor necrosis factor receptor superfamily, member 13C	109						integral to membrane	receptor activity			lung(2)|urinary_tract(1)	3						GACGCGCCGCGAAGCCGCCGC	0.731000													5	23					0	0	0.217242	0	0
GRIN2B	2904	broad.mit.edu	37	12	13715902	13715902	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr12:13715902G>A	ENST00000279593.3	-	13	4479	c.4270C>T	c.(4270-4272)Ctt>Ttt	p.L1424F		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1424					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TTGGTGACAAGGGCCCGGAAG	0.622000													13	27					0	0	0.411799	0	0
OGDHL	55753	broad.mit.edu	37	10	50952744	50952744	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr10:50952744C>T	ENST00000374103.4	-	13	1769	c.1684G>A	c.(1684-1686)Gat>Aat	p.D562N	OGDHL_ENST00000432695.1_Missense_Mutation_p.D353N|OGDHL_ENST00000419399.1_Missense_Mutation_p.D505N	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	562					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						ATCTTTTTATCCTTGGACCTG	0.537000													15	44					0	0	0.557998	0	0
TNRC6A	27327	broad.mit.edu	37	16	24829935	24829935	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr16:24829935C>T	ENST00000395799.3	+	21	5123	c.4994C>T	c.(4993-4995)aCc>aTc	p.T1665I	TNRC6A_ENST00000432286.2_Missense_Mutation_p.T143I|CTD-2515A14.1_ENST00000568895.1_RNA|TNRC6A_ENST00000315183.7_Missense_Mutation_p.T1616I	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1665					negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		TCCTTGAACACCACGCTGCCT	0.532000													3	31					0	0	0.115264	0	0
GCN1L1	10985	broad.mit.edu	37	12	120588998	120588998	+	Silent	SNP	C	C	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr12:120588998C>A	ENST00000300648.6	-	34	4272	c.4260G>T	c.(4258-4260)gcG>gcT	p.A1420A		NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1420					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CAGTCAGTGCCGCCATCATCT	0.612000													11	62					0.000978159	0.000997091	0.387290	1	0
UCP2	7351	broad.mit.edu	37	11	73689424	73689424	+	Translation_Start_Site	SNP	G	G	C			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr11:73689424G>C	ENST00000310473.3	-	0	842				UCP2_ENST00000536983.1_De_novo_Start_InFrame	NM_003355.2	NP_003346.2	P55851	UCP2_HUMAN	uncoupling protein 2 (mitochondrial, proton carrier)						proton transport|respiratory electron transport chain	integral to membrane|mitochondrial inner membrane	binding			large_intestine(1)|lung(3)|prostate(1)	5	Breast(11;0.000112)					ACCCAACCATGATGCTGATTT	0.527000													9	31					0	0	0.307466	0	0
RNF111	54778	broad.mit.edu	37	15	59350644	59350644	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr15:59350644C>T	ENST00000348370.4	+	5	1694	c.1261C>T	c.(1261-1263)Cag>Tag	p.Q421*	RNF111_ENST00000561186.1_Nonsense_Mutation_p.Q421*|RNF111_ENST00000559209.1_Nonsense_Mutation_p.Q421*|RNF111_ENST00000557998.1_Nonsense_Mutation_p.Q421*|RNF111_ENST00000434298.1_Nonsense_Mutation_p.Q421*	NM_001270528.1|NM_001270529.1|NM_017610.7	NP_001257457.1|NP_001257458.1|NP_060080.6	Q6ZNA4	RN111_HUMAN	ring finger protein 111	421	Ser-rich.				multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		TACCTCTGAGCAGGCCTCTGA	0.443000													19	207					0	0	0.557998	0	0
CHRNA4	1137	broad.mit.edu	37	20	61978195	61978195	+	Silent	SNP	G	G	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr20:61978195G>A	ENST00000370263.4	-	6	2000	c.1779C>T	c.(1777-1779)taC>taT	p.Y593Y	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	593					B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	CCATGGCCACGTACTTCCAGT	0.682000													3	44					0	0	0.115264	0	0
SCN1A	6323	broad.mit.edu	37	2	166856255	166856255	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr2:166856255T>C	ENST00000423058.2	-	22	4333	c.4316A>G	c.(4315-4317)tAt>tGt	p.Y1439C	SCN1A_ENST00000303395.4_Missense_Mutation_p.Y1439C|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.Y1428C|SCN1A_ENST00000409050.1_Missense_Mutation_p.Y1411C|AC010127.3_ENST00000595647.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1439						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	AACTGCTGCATACATTATATC	0.303000													19	58					0	0	0.575678	0	0
MAML3	55534	broad.mit.edu	37	4	140811099	140811099	+	Splice_Site	SNP	C	C	T			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr4:140811099C>T	ENST00000398940.1	-	1	107	c.108_splice	c.e1+1	p.Q36_splice	MAML3_ENST00000509479.2_Silent_p.Q497Q|MAML3_ENST00000327122.5_Silent_p.Q341Q			Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	497					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	p.Q497Q(2)		breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgctgct	0.542000													3	39					0	0	0.115264	0	0
POGZ	23126	broad.mit.edu	37	1	151377602	151377602	+	Silent	SNP	G	G	C			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr1:151377602G>C	ENST00000271715.2	-	19	4223	c.3909C>G	c.(3907-3909)gtC>gtG	p.V1303V	POGZ_ENST00000491586.1_Silent_p.V1259V|POGZ_ENST00000368863.2_Silent_p.V1208V|POGZ_ENST00000361398.3_Silent_p.V1250V|POGZ_ENST00000540984.1_Silent_p.V665V|POGZ_ENST00000531094.1_Silent_p.V1241V|POGZ_ENST00000409503.1_Silent_p.V1294V|POGZ_ENST00000392723.1_Silent_p.V1250V	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	1303	DDE.				cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CACCCAGCCAGACAAGCACCA	0.517000													27	85					0	0	0.667858	0	0
C11orf68	83638	broad.mit.edu	37	11	65685181	65685181	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr11:65685181G>A	ENST00000438576.2	-	2	716	c.631C>T	c.(631-633)Cgc>Tgc	p.R211C	C11orf68_ENST00000449692.3_Missense_Mutation_p.R210C|C11orf68_ENST00000530188.1_Missense_Mutation_p.R169C			Q9H3H3	CK068_HUMAN	chromosome 11 open reading frame 68	169										large_intestine(1)|lung(3)	4				READ - Rectum adenocarcinoma(159;0.166)		ATGACCTGGCGCCCACCCTCC	0.637000													8	30					0	0	0.335167	0	0
KIAA1210	57481	broad.mit.edu	37	X	118222748	118222748	+	Silent	SNP	G	G	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chrX:118222748G>A	ENST00000402510.2	-	11	2444	c.2445C>T	c.(2443-2445)ttC>ttT	p.F815F		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	815										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						TTGATTCTGAGAAGACTTCTT	0.483000													6	28					0	0	0.248553	0	0
NES	10763	broad.mit.edu	37	1	156642028	156642028	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr1:156642028G>A	ENST00000368223.3	-	4	2084	c.1952C>T	c.(1951-1953)aCg>aTg	p.T651M		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	651	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TTGATTTTCCGTTCCTGGAAA	0.398000													10	38					0	0	0.335167	0	0
ZNF98	148198	broad.mit.edu	37	19	22575526	22575526	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr19:22575526T>C	ENST00000357774.5	-	4	632	c.511A>G	c.(511-513)Aga>Gga	p.R171G		NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	171					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				ATCTTATGTCTGTTTGAATTT	0.299000													4	17					0	0	0.150653	0	0
FRYL	285527	broad.mit.edu	37	4	48523208	48523208	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr4:48523208C>A	ENST00000358350.4	-	55	8150	c.7546G>T	c.(7546-7548)Gaa>Taa	p.E2516*	FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000503238.1_Nonsense_Mutation_p.E2516*|FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000537810.1_Nonsense_Mutation_p.E2516*	NM_015030.1	NP_055845.1	O94915	FRYL_HUMAN	FRY-like	2516					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						GGTATTGTTTCATCAGTGGCA	0.388000													12	45					1.5842e-08	1.81379e-08	0.435327	1	0
LOC101927209	101927209	broad.mit.edu	37	1	142713407	142713407	+	RNA	SNP	C	C	T	rs142431664	by1000genomes	TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr1:142713407C>T	ENST00000369381.2	-	0	1198																											CAGTAAGAAACTCATTCTTAT	0.318000													4	26					0	0	0.150653	0	0
PLXNA2	5362	broad.mit.edu	37	1	208202360	208202360	+	Silent	SNP	C	C	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr1:208202360C>A	ENST00000367033.3	-	30	6010	c.5253G>T	c.(5251-5253)gtG>gtT	p.V1751V	PLXNA2_ENST00000483048.1_5'UTR	NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1751					axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GGTTCTTAATCACGTTCACCC	0.562000													14	34					1.99824e-07	2.22339e-07	0.520397	1	0
HELQ	113510	broad.mit.edu	37	4	84348802	84348802	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr4:84348802C>T	ENST00000295488.3	-	13	2752	c.2590G>A	c.(2590-2592)Gaa>Aaa	p.E864K	HELQ_ENST00000510985.1_Missense_Mutation_p.E797K	NM_133636.2	NP_598375.2	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	864							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						AGAAGGCTTTCAAGCACAAGT	0.368000								Other identified genes with known or suspected DNA repair function					10	47					0	0	0.335167	0	0
PLXNC1	10154	broad.mit.edu	37	12	94641745	94641745	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr12:94641745C>T	ENST00000258526.4	+	13	2704	c.2455C>T	c.(2455-2457)Cgc>Tgc	p.R819C		NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	819					axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding	p.R819C(2)|p.R819G(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TTCAAAAGTGCGCACGAATGT	0.463000													17	62					0	0	0.575678	0	0
EFCAB6	64800	broad.mit.edu	37	22	44063042	44063042	+	Missense_Mutation	SNP	C	C	T	rs148107489	byFrequency	TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr22:44063042C>T	ENST00000262726.7	-	17	2178	c.1925G>A	c.(1924-1926)cGa>cAa	p.R642Q	EFCAB6_ENST00000396231.2_Missense_Mutation_p.R490Q	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	642	EF-hand 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				GTCAAGAAATCGTTTTTTGAA	0.403000													13	110					0	0	0.411799	0	0
RBCK1	10616	broad.mit.edu	37	20	402811	402811	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr20:402811G>T	ENST00000356286.5	+	8	1663	c.958G>T	c.(958-960)Gag>Tag	p.E320*	RBCK1_ENST00000382181.2_Nonsense_Mutation_p.E150*|RBCK1_ENST00000353660.3_Nonsense_Mutation_p.E278*	NM_031229.2	NP_112506.2	Q9BYM8	HOIL1_HUMAN	RanBP-type and C3HC4-type zinc finger containing 1	320					interspecies interaction between organisms|negative regulation of NF-kappaB transcription factor activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|proteasomal ubiquitin-dependent protein catabolic process|protein linear polyubiquitination|T cell receptor signaling pathway	LUBAC complex	protein binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(1)|lung(4)	5		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)				CCAGGAGGCGGAGGTCTCCTG	0.612000													20	72					3.51602e-12	4.20857e-12	0.575678	1	0
FAT4	79633	broad.mit.edu	37	4	126336256	126336256	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr4:126336256T>A	ENST00000394329.3	+	5	6151	c.6138T>A	c.(6136-6138)gaT>gaA	p.D2046E	FAT4_ENST00000335110.5_Missense_Mutation_p.D344E	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2046	Cadherin 19.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ATGTAAATGATAACCCACCGA	0.408000													24	118					0	0	0.624587	0	0
MIDN	90007	broad.mit.edu	37	19	1257108	1257108	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr19:1257108C>T	ENST00000300952.2	+	8	1759	c.1244C>T	c.(1243-1245)cCg>cTg	p.P415L	MIDN_ENST00000591446.2_Missense_Mutation_p.P415L	NM_177401.4	NP_796375.3	Q504T8	MIDN_HUMAN	midnolin	415						nucleolus		p.P415L(1)		NS(1)|endometrium(3)|kidney(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGCGGGGTCCGTACCACTGG	0.706000													4	28					0	0	0.150653	0	0
MCCC2	64087	broad.mit.edu	37	5	70948526	70948526	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr5:70948526G>T	ENST00000340941.6	+	16	1648	c.1519G>T	c.(1519-1521)Gag>Tag	p.E507*	MCCC2_ENST00000323375.8_Nonsense_Mutation_p.E469*	NM_022132.4	NP_071415.1	Q9HCC0	MCCB_HUMAN	methylcrotonoyl-CoA carboxylase 2 (beta)	507	Carboxyltransferase.				leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|methylcrotonoyl-CoA carboxylase activity			endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	30		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	Biotin(DB00121)	GGCTTTAAAAGAGCCCATCAT	0.463000													9	32					2.17888e-05	2.29508e-05	0.335167	1	0
DSG2	1829	broad.mit.edu	37	18	29104786	29104786	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr18:29104786G>T	ENST00000261590.8	+	8	1158	c.949G>T	c.(949-951)Gaa>Taa	p.E317*		NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	317	Cadherin 3.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	p.E317K(1)		breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			ATCAGGAAATGAAGGAGGTTA	0.378000													12	25					1.08611e-07	1.21706e-07	0.387290	1	0
CNGA3	1261	broad.mit.edu	37	2	99013277	99013277	+	Silent	SNP	G	G	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr2:99013277G>A	ENST00000393504.1	+	8	2061	c.1644G>A	c.(1642-1644)ggG>ggA	p.G548G	CNGA3_ENST00000436404.2_Silent_p.G530G|CNGA3_ENST00000409937.1_Silent_p.G552G|CNGA3_ENST00000272602.2_Silent_p.G548G	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	548			G -> R (in ACHM2).		signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						GCTACTTCGGGGAGATCAGCA	0.572000													28	87					0	0	0.706142	0	0
TBX2	6909	broad.mit.edu	37	17	59477583	59477583	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr17:59477583T>A	ENST00000240328.3	+	1	327	c.46T>A	c.(46-48)Ttc>Atc	p.F16I	RP11-332H18.5_ENST00000585765.1_RNA|RP11-332H18.4_ENST00000592009.1_RNA	NM_005994.3	NP_005985.3	Q13207	TBX2_HUMAN	T-box 2	16					cell aging|positive regulation of cell proliferation		sequence-specific DNA binding			endometrium(1)|lung(7)|ovary(1)	9						TTACCACCCGTTCCACGCGCC	0.796000													4	18					0	0	0.217242	0	0
CEP135	9662	broad.mit.edu	37	4	56823519	56823519	+	Silent	SNP	G	G	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr4:56823519G>A	ENST00000257287.4	+	5	727	c.603G>A	c.(601-603)gtG>gtA	p.V201V	CEP135_ENST00000422247.2_Silent_p.V201V	NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	201					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)					TCCTTCAAGTGGCTGATAACA	0.413000													11	53					0	0	0.361761	0	0
MTF1	4520	broad.mit.edu	37	1	38305745	38305745	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr1:38305745C>T	ENST00000373036.4	-	3	634	c.494G>A	c.(493-495)cGa>cAa	p.R165Q		NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	165						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding			endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				GTACTCTCCTCGGTGAGTCTT	0.547000													11	50					0	0	0.411799	0	0
SERPINA1	5265	broad.mit.edu	37	14	94847230	94847230	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr14:94847230A>C	ENST00000448921.1	-	5	1467	c.895T>G	c.(895-897)Ttc>Gtc	p.F299V	SERPINA1_ENST00000393088.4_Missense_Mutation_p.F299V|SERPINA1_ENST00000449399.3_Missense_Mutation_p.F299V|SERPINA1_ENST00000440909.1_Missense_Mutation_p.F299V|SERPINA1_ENST00000404814.4_Missense_Mutation_p.F299V|SERPINA1_ENST00000437397.1_Missense_Mutation_p.F299V|SERPINA1_ENST00000355814.4_Missense_Mutation_p.F299V|SERPINA1_ENST00000393087.4_Missense_Mutation_p.F299V|SERPINA1_ENST00000402629.1_Missense_Mutation_p.F299V	NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1	NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1	P01009	A1AT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	299					acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix	protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	Alpha-1-proteinase inhibitor(DB00058)	TTTTCCAGGAACTTGGTGATG	0.517000													10	70					0	0	0.387290	0	0
MICB	4277	broad.mit.edu	37	6	31474816	31474816	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr6:31474816G>A	ENST00000252229.6	+	4	710	c.631G>A	c.(631-633)Gtc>Atc	p.V211I	MICB_ENST00000399150.3_Missense_Mutation_p.V168I|MICB_ENST00000538442.1_Missense_Mutation_p.V179I	NM_005931.3	NP_005922.2	Q29980	MICB_HUMAN	MHC class I polypeptide-related sequence B	211	Ig-like C1-type.				antigen processing and presentation|cytolysis|gamma-delta T cell activation|immune response|immune response-activating cell surface receptor signaling pathway|interspecies interaction between organisms|negative regulation of defense response to virus by host|response to heat|response to oxidative stress|response to retinoic acid	integral to plasma membrane|MHC class I protein complex	natural killer cell lectin-like receptor binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	13						CATGGTGAATGTCACCTGCAG	0.587000													10	42					0	0	0.387290	0	0
NF1	4763	broad.mit.edu	37	17	29683523	29683523	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr17:29683523C>T	ENST00000358273.4	+	52	8044	c.7661C>T	c.(7660-7662)cCt>cTt	p.P2554L	NF1_ENST00000356175.3_Missense_Mutation_p.P2533L|NF1_ENST00000444181.2_Missense_Mutation_p.P347L|NF1_ENST00000417592.2_3'UTR	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2554					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ACAAAGGCTCCTAAAAGGCAA	0.358000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			9	49					0	0	0.335167	0	0
PAPSS2	9060	broad.mit.edu	37	10	89474820	89474820	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr10:89474820G>A	ENST00000361175.4	+	6	1087	c.718G>A	c.(718-720)Gag>Aag	p.E240K	PAPSS2_ENST00000427144.2_Missense_Mutation_p.E244K|PAPSS2_ENST00000456849.1_Missense_Mutation_p.E240K	NM_004670.3	NP_004661.2	O95340	PAPS2_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 2	240					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|protein binding|sulfate adenylyltransferase (ATP) activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	20		Melanoma(5;0.019)|Colorectal(252;0.123)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)		CGTCCGAGCTGAGGCTGAAAC	0.363000													15	26					0	0	0.520397	0	0
PIK3CA	5290	broad.mit.edu	37	3	178928079	178928079	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr3:178928079G>A	ENST00000263967.3	+	8	1514	c.1357G>A	c.(1357-1359)Gaa>Aaa	p.E453K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	453	C2 PI3K-type.		E -> Q (in cancer; shows an increase in lipid kinase activity; may disrupt the interaction of the C2 PI3K-type domain with the iSH2 region of the p85 regulatory subunit).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E453K(11)|p.E453Q(5)|p.H450fs*9(1)|p.G451_L456>V(1)|p.P449_L455del(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TCATGGATTAGAAGATTTGCT	0.348000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			16	59					0	0	0.539581	0	0
GPR112	139378	broad.mit.edu	37	X	135428693	135428693	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chrX:135428693C>T	ENST00000394143.1	+	6	3119	c.2828C>T	c.(2827-2829)tCa>tTa	p.S943L	GPR112_ENST00000287534.4_Missense_Mutation_p.S880L|GPR112_ENST00000370652.1_Missense_Mutation_p.S943L|GPR112_ENST00000412101.1_Missense_Mutation_p.S738L|GPR112_ENST00000394141.1_Missense_Mutation_p.S738L	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	943					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CATTGGACTTCAGAGACATCT	0.423000													36	168					0	0	0.819951	0	0
NLRP9	338321	broad.mit.edu	37	19	56244753	56244753	+	Silent	SNP	C	C	T			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr19:56244753C>T	ENST00000332836.2	-	2	471	c.444G>A	c.(442-444)gtG>gtA	p.V148V		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	148	NACHT.					cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		CTTCCAGGACCACAGTGTGTC	0.433000													7	51					0	0	0.248553	0	0
SREBF2	6721	broad.mit.edu	37	22	42266924	42266924	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr22:42266924A>T	ENST00000361204.4	+	4	918	c.752A>T	c.(751-753)gAt>gTt	p.D251V		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	251	Interaction with LMNA (By similarity).				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						ATCAAGACAGATTCCCTTGTT	0.502000													23	95					0	0	0.681144	0	0
AGAP1	116987	broad.mit.edu	37	2	237032611	237032611	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr2:237032611G>A	ENST00000409538.1	+	17	3551	c.3055G>A	c.(3055-3057)Gcc>Acc	p.A1019T	AGAP1_ENST00000304032.7_Missense_Mutation_p.A807T|AGAP1_ENST00000428334.2_Missense_Mutation_p.A646T|AGAP1_ENST00000336665.5_Missense_Mutation_p.A754T			Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	807					protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						CACAGCTCTGGCCTACGCCCG	0.642000													14	41					0	0	0.435327	0	0
RYR2	6262	broad.mit.edu	37	1	237780641	237780641	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr1:237780641C>T	ENST00000366574.2	+	38	6088	c.5771C>T	c.(5770-5772)gCc>gTc	p.A1924V	RYR2_ENST00000542537.1_Missense_Mutation_p.A1908V|RYR2_ENST00000360064.6_Missense_Mutation_p.A1922V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1924	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CGGATAGAAGCCATTGTAGCC	0.433000													6	22					0	0	0.217242	0	0
AGAP1	116987	broad.mit.edu	37	2	237032610	237032610	+	Silent	SNP	G	G	T			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr2:237032610G>T	ENST00000409538.1	+	17	3550	c.3054G>T	c.(3052-3054)ctG>ctT	p.L1018L	AGAP1_ENST00000304032.7_Silent_p.L806L|AGAP1_ENST00000428334.2_Silent_p.L645L|AGAP1_ENST00000336665.5_Silent_p.L753L			Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	806					protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						ACACAGCTCTGGCCTACGCCC	0.642000													13	40					7.03913e-09	8.17781e-09	0.411799	1	0
PCDHB2	56133	broad.mit.edu	37	5	140476702	140476702	+	Silent	SNP	C	C	T			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr5:140476702C>T	ENST00000194155.4	+	1	2476	c.2328C>T	c.(2326-2328)ttC>ttT	p.F776F		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		776					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCCCAACTTCGTTGCTCAGG	0.507000													20	79					0	0	0.654019	0	0
DRP2	1821	broad.mit.edu	37	X	100497333	100497333	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chrX:100497333C>A	ENST00000395209.3	+	8	1375	c.848C>A	c.(847-849)tCc>tAc	p.S283Y	DRP2_ENST00000541709.1_Missense_Mutation_p.S205Y|DRP2_ENST00000402866.1_Missense_Mutation_p.S283Y|DRP2_ENST00000538510.1_Missense_Mutation_p.S283Y	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	283					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						GAAGAATTCTCCCCCATGAAA	0.478000													46	226					8.20599e-20	9.8973e-20	0.859065	1	0
MAP2	4133	broad.mit.edu	37	2	210559592	210559592	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr2:210559592A>C	ENST00000360351.4	+	7	3204	c.2698A>C	c.(2698-2700)Act>Cct	p.T900P	MAP2_ENST00000361559.4_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.T896P|MAP2_ENST00000199940.6_Intron	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	900					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)	TTACGAAGGCACTGATGATAA	0.453000													11	53					0	0	0.387290	0	0
MYO1H	283446	broad.mit.edu	37	12	109845600	109845600	+	Splice_Site	SNP	T	T	C			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr12:109845600T>C	ENST00000310903.5	+	10	1095	c.987_splice	c.e10-1	p.V330_splice	MYO1H_ENST00000431443.2_Splice_Site_p.V330_splice|MYO1H_ENST00000542883.1_3'UTR			B4DNW6	B4DNW6_HUMAN	myosin IH	0						myosin complex	motor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						TCTTTTCAGGTGATCTGCCCG	0.383000													8	31					0	0	0.335167	0	0
SULT1E1	6783	broad.mit.edu	37	4	70713465	70713465	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr4:70713465T>C	ENST00000226444.3	-	6	654	c.542A>G	c.(541-543)aAg>aGg	p.K181R		NM_005420.2	NP_005411.1	P49888	ST1E1_HUMAN	sulfotransferase family 1E, estrogen-preferring, member 1	181					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol|nuclear membrane	estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						ACTCTTTCCCTTTTCCCACCA	0.373000													3	63					0	0	0.115264	0	0
SLC15A1	6564	broad.mit.edu	37	13	99376168	99376168	+	Silent	SNP	G	G	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr13:99376168G>A	ENST00000376503.5	-	5	418	c.363C>T	c.(361-363)caC>caT	p.H121H		NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide transporter), member 1	121					digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)	CAACTCACACGTGCACAGGAA	0.512000													7	35					0	0	0.248553	0	0
C1QTNF9B	387911	broad.mit.edu	37	13	24465689	24465689	+	Silent	SNP	C	C	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr13:24465689C>A	ENST00000382137.3	-	3	809	c.741G>T	c.(739-741)ggG>ggT	p.G247G	C1QTNF9B_ENST00000382057.3_Intron|C1QTNF9B_ENST00000382140.2_Silent_p.G247G|C1QTNF9B_ENST00000556521.1_Intron|C1QTNF9B-AS1_ENST00000417034.1_RNA|C1QTNF9B_ENST00000382145.1_Intron|C1QTNF9B-AS1_ENST00000382133.4_RNA|C1QTNF9B-AS1_ENST00000435039.2_RNA	NM_001007537.1	NP_001007538.1	B2RNN3	C1T9B_HUMAN	C1q and tumor necrosis factor related protein 9B	247	C1q.					collagen				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1)	6						AGTAATAGACCCCAGCAATGT	0.408000													17	105					2.23348e-06	2.40062e-06	0.500413	1	0
KHSRP	8570	broad.mit.edu	37	19	6416663	6416663	+	Splice_Site	SNP	T	T	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr19:6416663T>A	ENST00000398148.3	-	14	1420		c.e14-2			NM_003685.2	NP_003676.2	Q92945	FUBP2_HUMAN	KH-type splicing regulatory protein						mRNA processing|mRNA transport|regulation of transcription, DNA-dependent|RNA splicing, via transesterification reactions|transcription, DNA-dependent	cytosol|nucleus	DNA binding|protein binding|RNA binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1)	17						TCTCGCCACCTGCAGAAACGC	0.602000													7	30					0	0	0.248553	0	0
DNAJB6	10049	broad.mit.edu	37	7	157208714	157208714	+	Silent	SNP	G	G	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr7:157208714G>A	ENST00000262177.4	+	10	1108	c.903G>A	c.(901-903)ttG>ttA	p.L301L	DNAJB6_ENST00000494267.1_3'UTR|DNAJB6_ENST00000443280.1_Silent_p.L186L|DNAJB6_ENST00000452797.2_Silent_p.L252L	NM_058246.3	NP_490647.1	O75190	DNJB6_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 6	301					intermediate filament organization|negative regulation of caspase activity|protein folding|response to unfolded protein	nucleus|perinuclear region of cytoplasm	ATPase activator activity|chaperone binding|heat shock protein binding|unfolded protein binding			central_nervous_system(1)|lung(1)|ovary(2)|stomach(1)	5	all_neural(206;0.181)	all_epithelial(9;0.000606)|all_hematologic(28;0.00287)|Acute lymphoblastic leukemia(9;0.0647)|Ovarian(593;0.196)	OV - Ovarian serous cystadenocarcinoma(82;0.00399)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		CCTTAGGATTGAAAGAAGGTG	0.478000													25	48					0	0	0.681144	0	0
SYNPO	11346	broad.mit.edu	37	5	150027825	150027825	+	Silent	SNP	C	C	T			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr5:150027825C>T	ENST00000394243.1	+	3	1094	c.720C>T	c.(718-720)gtC>gtT	p.V240V	SYNPO_ENST00000518872.1_Intron|SYNPO_ENST00000519664.1_5'UTR|SYNPO_ENST00000522122.1_Silent_p.V240V|SYNPO_ENST00000307662.4_5'UTR	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	synaptopodin	240					positive regulation of actin filament bundle assembly|regulation of stress fiber assembly	actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction	actin binding|protein binding			NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACAGAGGGGTCCCTGGCCACA	0.667000													10	23					0	0	0.387290	0	0
CHD2	1106	broad.mit.edu	37	15	93547934	93547934	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr15:93547934A>T	ENST00000394196.4	+	34	5434	c.4366A>T	c.(4366-4368)Att>Ttt	p.I1456F	CHD2_ENST00000557381.1_Missense_Mutation_p.I1456F	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1456					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			ACCTGTCCCCATTGGAGAGGA	0.478000													11	71					0	0	0.435327	0	0
ASPM	259266	broad.mit.edu	37	1	197111547	197111547	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr1:197111547G>A	ENST00000367409.4	-	3	2091	c.1835C>T	c.(1834-1836)tCa>tTa	p.S612L	ASPM_ENST00000294732.7_Missense_Mutation_p.S612L	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	612					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CTTAACAGCTGATGTTTTAGG	0.368000													33	127					0	0	0.788014	0	0
CRIM1	51232	broad.mit.edu	37	2	36691747	36691747	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr2:36691747C>T	ENST00000280527.2	+	5	1307	c.940C>T	c.(940-942)Cgt>Tgt	p.R314C		NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	314					nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				CATAGTCTCTCGTGGCGATGG	0.498000													30	109					0	0	0.706142	0	0
RPGRIP1	57096	broad.mit.edu	37	14	21788328	21788328	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr14:21788328C>G	ENST00000206660.6	+	11	1459	c.1459C>G	c.(1459-1461)Cag>Gag	p.Q487E	RPGRIP1_ENST00000400017.2_Missense_Mutation_p.Q487E|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.Q460E|RPGRIP1_ENST00000556336.1_Missense_Mutation_p.Q460E|RPGRIP1_ENST00000553500.1_3'UTR|RPGRIP1_ENST00000382933.4_Missense_Mutation_p.Q129E			Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	487					response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		AGAGAACACTCAGATCGAGGT	0.448000													3	20					0	0	0.184627	0	0
FCRL3	115352	broad.mit.edu	37	1	157665837	157665837	+	Silent	SNP	G	G	T			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr1:157665837G>T	ENST00000368184.3	-	7	1416	c.1125C>A	c.(1123-1125)acC>acA	p.T375T	RP11-367J7.3_ENST00000453692.1_RNA|FCRL3_ENST00000368186.5_Silent_p.T375T|FCRL3_ENST00000473231.1_5'UTR	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	375						integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					TACTTCTCACGGTGACTCGAA	0.522000													6	30					2.0095e-06	2.17466e-06	0.248553	1	0
TUBGCP5	114791	broad.mit.edu	37	15	22861874	22861874	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr15:22861874G>A	ENST00000283645.4	+	14	2024	c.1894G>A	c.(1894-1896)Gct>Act	p.A632T	TUBGCP5_ENST00000453949.2_Missense_Mutation_p.A632T|TUBGCP5_ENST00000559846.1_3'UTR	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	632					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		GCAGTCCATTGCTGAAAGCCA	0.458000													11	70					0	0	0.411799	0	0
OR6B3	150681	broad.mit.edu	37	2	240984616	240984616	+	Silent	SNP	G	G	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr2:240984616G>A	ENST00000319423.4	-	1	873	c.874C>T	c.(874-876)Ctg>Ttg	p.L292L		NM_173351.1	NP_775486.1	Q8NGW1	OR6B3_HUMAN	olfactory receptor, family 6, subfamily B, member 3	292					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(10)|lung(4)|ovary(2)|prostate(1)	18		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;1.05e-29)|all cancers(36;3.52e-28)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)		TTATTCCTCAGGCAGTATATC	0.493000													25	121					0	0	0.681144	0	0
FMO4	2329	broad.mit.edu	37	1	171303659	171303659	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr1:171303659G>A	ENST00000367749.3	+	8	1267	c.937G>A	c.(937-939)Gaa>Aaa	p.E313K		NM_002022.1	NP_002013.1	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	313					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					TGCTGTCTTTGAAGATGGGAC	0.378000													11	50					0	0	0.387290	0	0
PSD	5662	broad.mit.edu	37	10	104164418	104164418	+	Silent	SNP	G	G	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr10:104164418G>A	ENST00000020673.5	-	15	3148	c.2622C>T	c.(2620-2622)ccC>ccT	p.P874P	PSD_ENST00000406432.1_Silent_p.P874P	NM_001270966.1|NM_002779.3	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	874					regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		CTGGGAAGGGGGGCGCAGAGA	0.617000													35	99					0	0	0.834066	0	0
KCNU1	157855	broad.mit.edu	37	8	36673194	36673194	+	Silent	SNP	C	C	G			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr8:36673194C>G	ENST00000399881.3	+	9	1021	c.984C>G	c.(982-984)ctC>ctG	p.L328L		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	328						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		ATGAAGCACTCAAAGGAAAGA	0.323000													6	26					0	0	0.248553	0	0
KHSRP	8570	broad.mit.edu	37	19	6416646	6416646	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr19:6416646T>A	ENST00000398148.3	-	14	1435	c.1343A>T	c.(1342-1344)aAa>aTa	p.K448I		NM_003685.2	NP_003676.2	Q92945	FUBP2_HUMAN	KH-type splicing regulatory protein	448	Gly-rich.|KH 4.				mRNA processing|mRNA transport|regulation of transcription, DNA-dependent|RNA splicing, via transesterification reactions|transcription, DNA-dependent	cytosol|nucleus	DNA binding|protein binding|RNA binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1)	17						GTTTATGGCTTTCACATTCTC	0.602000													4	27					0	0	0.150653	0	0
ENPP1	5167	broad.mit.edu	37	6	132195426	132195426	+	Silent	SNP	A	A	G			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr6:132195426A>G	ENST00000360971.2	+	16	1604	c.1584A>G	c.(1582-1584)aaA>aaG	p.K528K		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	528	Phosphodiesterase.				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	CAGAAAGGAAATATTGTGGAA	0.259000													19	83					0	0	0.639603	0	0
GRIA4	2893	broad.mit.edu	37	11	105797542	105797542	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr11:105797542C>A	ENST00000393127.2	+	13	2369	c.1923C>A	c.(1921-1923)aaC>aaA	p.N641K	GRIA4_ENST00000530497.1_Missense_Mutation_p.N641K|GRIA4_ENST00000525187.1_Missense_Mutation_p.N641K|GRIA4_ENST00000282499.5_Missense_Mutation_p.N641K	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	641					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	ATACTGCTAACCTCGCTGCTT	0.428000													8	42					1.58986e-06	1.7324e-06	0.361761	1	0
CLSTN2	64084	broad.mit.edu	37	3	140185547	140185547	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr3:140185547G>A	ENST00000458420.3	+	8	1508	c.1318G>A	c.(1318-1320)Gcg>Acg	p.A440T		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	440					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						CTTTCGCCCCGCGGAGTTCCA	0.572000										HNSCC(16;0.037)			6	28					0	0	0.217242	0	0
NLRP9	338321	broad.mit.edu	37	19	56235505	56235505	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr19:56235505G>A	ENST00000332836.2	-	4	2027	c.2000C>T	c.(1999-2001)aCt>aTt	p.T667I		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	667						cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		GTACACAGAAGTAAATCTGCA	0.423000													4	25					0	0	0.150653	0	0
RNF214	257160	broad.mit.edu	37	11	117152363	117152363	+	Silent	SNP	G	G	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr11:117152363G>A	ENST00000530849.1	+	9	829	c.819G>A	c.(817-819)ctG>ctA	p.L273L	RNF214_ENST00000531287.1_Silent_p.L273L|RNF214_ENST00000300650.4_Silent_p.L428L|RNF214_ENST00000524917.1_3'UTR|RNF214_ENST00000531452.1_Silent_p.L428L			Q8ND24	RN214_HUMAN	ring finger protein 214	428							zinc ion binding			cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)		GAGCCAAGCTGAGCAGCCTTC	0.453000													25	125					0	0	0.717897	0	0
CCSER1	401145	broad.mit.edu	37	4	91389411	91389411	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr4:91389411G>A	ENST00000509176.1	+	5	1918	c.1630G>A	c.(1630-1632)Gtc>Atc	p.V544I	CCSER1_ENST00000333691.8_Missense_Mutation_p.V544I|CCSER1_ENST00000432775.2_Missense_Mutation_p.V544I	NM_001145065.1	NP_001138537.1			coiled-coil serine-rich protein 1																		ATATCACTCTGTCGTCTCATG	0.398000													4	24					0	0	0.150653	0	0
ALPP	250	broad.mit.edu	37	2	233243766	233243766	+	Silent	SNP	C	C	T			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr2:233243766C>T	ENST00000392027.2	+	2	431	c.162C>T	c.(160-162)gcC>gcT	p.A54A		NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	54						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		CACAGACAGCCGCCAAGAACC	0.667000													22	85					0	0	0.608945	0	0
AKAP8	10270	broad.mit.edu	37	19	15484099	15484099	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr19:15484099C>T	ENST00000269701.2	-	5	484	c.424G>A	c.(424-426)Gag>Aag	p.E142K		NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN	A kinase (PRKA) anchor protein 8	142					signal transduction	nuclear matrix				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						GGGTTGTGCTCCGGCAGGCAG	0.627000													4	23					0	0	0.150653	0	0
KCNA4	3739	broad.mit.edu	37	11	30033675	30033675	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr11:30033675C>G	ENST00000328224.6	-	2	1784	c.551G>C	c.(550-552)gGc>gCc	p.G184A		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	184						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						AAAGCGTAGGCCTGACACATT	0.512000													10	47					0	0	0.361761	0	0
HDAC9	9734	broad.mit.edu	37	7	18788641	18788641	+	Silent	SNP	C	C	T			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr7:18788641C>T	ENST00000406451.3	+	14	2064	c.1914C>T	c.(1912-1914)gaC>gaT	p.D638D	HDAC9_ENST00000401921.1_Silent_p.D597D|HDAC9_ENST00000441542.2_Silent_p.D641D|HDAC9_ENST00000432645.2_Silent_p.D638D	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	638	Histone deacetylase.				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	TTGCCTATGACCCCTTGATGC	0.428000													6	15					0	0	0.217242	0	0
GOT1L1	137362	broad.mit.edu	37	8	37793279	37793279	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr8:37793279T>C	ENST00000307599.4	-	7	971	c.872A>G	c.(871-873)aAc>aGc	p.N291S	GOT1L1_ENST00000518826.1_Missense_Mutation_p.N32S	NM_152413.2	NP_689626.2	Q8NHS2	AATC2_HUMAN	glutamic-oxaloacetic transaminase 1-like 1	291					biosynthetic process|cellular amino acid metabolic process	cytoplasm	pyridoxal phosphate binding|transaminase activity			central_nervous_system(1)|endometrium(3)|lung(8)|ovary(1)|prostate(1)	14	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)			TGCACCCGTGTTGGGGGGGTT	0.612000													9	22					0	0	0.335167	0	0
DDX11	1663	broad.mit.edu	37	12	31242845	31242845	+	Silent	SNP	G	G	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr12:31242845G>A	ENST00000407793.2	+	9	1157	c.906G>A	c.(904-906)gaG>gaA	p.E302E	DDX11_ENST00000228264.6_Silent_p.E276E|DDX11_ENST00000545668.1_Silent_p.E302E|DDX11_ENST00000350437.4_Silent_p.E302E|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000542838.1_Silent_p.E302E	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	302	Helicase ATP-binding.				G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					CTGAGGAGGAGAAGCCAAAGA	0.587000										Multiple Myeloma(12;0.14)			6	8					0	0	0.278610	0	0
BBS9	27241	broad.mit.edu	37	7	33185916	33185916	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr7:33185916G>C	ENST00000242067.6	+	2	573	c.52G>C	c.(52-54)Gaa>Caa	p.E18Q	BBS9_ENST00000355070.2_Missense_Mutation_p.E18Q|BBS9_ENST00000354265.4_Missense_Mutation_p.E18Q|BBS9_ENST00000350941.3_Missense_Mutation_p.E18Q|BBS9_ENST00000425508.2_5'UTR|BBS9_ENST00000482941.1_3'UTR|BBS9_ENST00000396127.2_Missense_Mutation_p.E18Q	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	18					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)			GGGAGATAAAGAAGAATTTGA	0.333000									Bardet-Biedl syndrome				15	58					0	0	0.520397	0	0
HIST1H4E	8367	broad.mit.edu	37	6	26205150	26205150	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr6:26205150G>C	ENST00000360441.4	+	1	293	c.278G>C	c.(277-279)aGa>aCa	p.R93T		NM_003545.3	NP_003536.1	P62805	H4_HUMAN	histone cluster 1, H4e	93					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	p.R93T(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	18		all_hematologic(11;0.196)				GCGCTGAAGAGACAGGGACGC	0.537000													6	43					0	0	0.248553	0	0
PKD1L1	168507	broad.mit.edu	37	7	47920383	47920383	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr7:47920383T>C	ENST00000289672.2	-	21	3513	c.3463A>G	c.(3463-3465)Aca>Gca	p.T1155A		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1155	REJ.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GGCTTGATTGTCACTGTCTGT	0.468000													9	43					0	0	0.335167	0	0
DHX38	9785	broad.mit.edu	37	16	72139499	72139499	+	Silent	SNP	C	C	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr16:72139499C>A	ENST00000268482.3	+	18	2972	c.2463C>A	c.(2461-2463)atC>atA	p.I821I	DHX38_ENST00000536867.1_Silent_p.I133I	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	821	Helicase C-terminal.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				TGTTTGTTATCGATTCTGGTT	0.512000													8	44					3.09899e-07	3.40028e-07	0.307466	1	0
FAT2	2196	broad.mit.edu	37	5	150922849	150922849	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr5:150922849A>C	ENST00000261800.5	-	9	7851	c.7839T>G	c.(7837-7839)gaT>gaG	p.D2613E		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2613	Cadherin 23.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCTGACCTTCATCTGCATCAT	0.458000													39	154					0	0	0.840704	0	0
KIAA1462	57608	broad.mit.edu	37	10	30316271	30316271	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr10:30316271G>A	ENST00000375377.1	-	3	2907	c.2806C>T	c.(2806-2808)Cgc>Tgc	p.R936C		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	936								p.R936C(1)		breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						TCTTCCACGCGAAAGCGGCCC	0.607000													12	44					0	0	0.411799	0	0
SPIRE1	56907	broad.mit.edu	37	18	12454464	12454464	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr18:12454464C>T	ENST00000409402.4	-	13	1924	c.1657G>A	c.(1657-1659)Gtg>Atg	p.V553M	SPIRE1_ENST00000410092.3_Missense_Mutation_p.V539M|SPIRE1_ENST00000464481.1_5'UTR|SPIRE1_ENST00000383356.2_Missense_Mutation_p.V380M|SPIRE1_ENST00000309836.5_Missense_Mutation_p.V342M|SPIRE1_ENST00000453447.2_Missense_Mutation_p.V419M	NM_001128626.1	NP_001122098.1	Q08AE8	SPIR1_HUMAN	spire-type actin nucleation factor 1	553						cytoskeleton|perinuclear region of cytoplasm	actin binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)	28						AGGCATTCCACTGGGTAGCAG	0.453000													4	103					0	0	0.150653	0	0
GUCY2D	3000	broad.mit.edu	37	17	7907216	7907216	+	Silent	SNP	G	G	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr17:7907216G>A	ENST00000254854.4	+	3	918	c.768G>A	c.(766-768)caG>caA	p.Q256Q		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	256					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			skin(1)	1		Prostate(122;0.157)				GCGAGGAGCAGCGCTACCTCC	0.692000													11	46					0	0	0.361761	0	0
MYOM1	8736	broad.mit.edu	37	18	3102583	3102583	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr18:3102583G>A	ENST00000400569.3	-	23	3797	c.3464C>T	c.(3463-3465)tCa>tTa	p.S1155L	MYOM1_ENST00000261606.7_Missense_Mutation_p.S1059L|MYOM1_ENST00000356443.4_Missense_Mutation_p.S1155L			P52179	MYOM1_HUMAN	myomesin 1	1155	Ig-like C2-type 3.					striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GAAGTTCAATGAAATGACTCC	0.428000													22	81					0	0	0.608945	0	0
DOCK2	1794	broad.mit.edu	37	5	169502981	169502981	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr5:169502981C>A	ENST00000256935.8	+	47	4839	c.4759C>A	c.(4759-4761)Cat>Aat	p.H1587N	DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.H1079N|DOCK2_ENST00000540750.1_Missense_Mutation_p.H648N	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1587	DHR-2.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GATTAAGATCCATGAGAAAAG	0.532000													23	107					1.96895e-08	2.23808e-08	0.639603	1	0
P2RX1	5023	broad.mit.edu	37	17	3802281	3802281	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr17:3802281G>C	ENST00000225538.3	-	9	1187	c.913C>G	c.(913-915)Cgt>Ggt	p.R305G		NM_002558.2	NP_002549.1	P51575	P2RX1_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 1	305					platelet activation	integral to plasma membrane	calcium channel activity|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	13				LUAD - Lung adenocarcinoma(2;1.9e-05)|Lung(3;0.0173)		AAGAGGTGACGGTAGTTGGTC	0.562000													20	80					0	0	0.592651	0	0
ANK3	288	broad.mit.edu	37	10	61834987	61834987	+	Silent	SNP	G	G	T			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr10:61834987G>T	ENST00000280772.1	-	37	5843	c.5652C>A	c.(5650-5652)ccC>ccA	p.P1884P	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1884	Ser-rich.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TAAGGGCAGAGGGTGCAAGGA	0.443000													7	56					1.12685e-05	1.19492e-05	0.307466	1	0
BRINP1	1620	broad.mit.edu	37	9	121971050	121971050	+	Silent	SNP	G	G	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr9:121971050G>A	ENST00000265922.3	-	7	1553	c.1092C>T	c.(1090-1092)ttC>ttT	p.F364F	DBC1_ENST00000482797.1_5'UTR	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		364					cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						CACTGAGGCCGAAAAGCTTGC	0.587000													10	35					0	0	0.335167	0	0
C12orf42	374470	broad.mit.edu	37	12	103795437	103795437	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr12:103795437A>C	ENST00000378113.2	-	3	320	c.95T>G	c.(94-96)aTt>aGt	p.I32S	C12orf42_ENST00000548789.1_5'UTR|C12orf42_ENST00000548048.1_5'UTR|C12orf42_ENST00000315192.8_Missense_Mutation_p.I32S|C12orf42_ENST00000548883.1_Missense_Mutation_p.I32S	NM_001099336.1	NP_001092806.1	Q96LP6	CL042_HUMAN	chromosome 12 open reading frame 42	32										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						CACAATGGGAATATAGCAAGG	0.443000													7	18					0	0	0.248553	0	0
AKNAD1	254268	broad.mit.edu	37	1	109391400	109391400	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr1:109391400G>C	ENST00000370001.3	-	5	1487	c.1219C>G	c.(1219-1221)Cct>Gct	p.P407A	AKNAD1_ENST00000369994.1_Missense_Mutation_p.P407A|AKNAD1_ENST00000369995.3_Missense_Mutation_p.P407A|AKNAD1_ENST00000357393.4_Missense_Mutation_p.P114A	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	407										breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						AAATGGTAAGGAGAGTCCTGT	0.313000													11	77					0	0	0.411799	0	0
SEC14L4	284904	broad.mit.edu	37	22	30887573	30887573	+	Silent	SNP	G	G	A	rs141872549		TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr22:30887573G>A	ENST00000392772.2	-	11	1183	c.906C>T	c.(904-906)ctC>ctT	p.L302L	SEC14L4_ENST00000540456.1_Silent_p.L341L|SEC14L4_ENST00000381982.3_Silent_p.L356L|SEC14L4_ENST00000255858.7_Silent_p.L356L			Q9UDX3	S14L4_HUMAN	SEC14-like 4 (S. cerevisiae)	356	GOLD.					integral to membrane|intracellular	lipid binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	CGCCAGCCTGGAGGCAGGTGA	0.617000													8	76					0	0	0.278610	0	0
LRRTM1	347730	broad.mit.edu	37	2	80530211	80530211	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr2:80530211A>T	ENST00000295057.3	-	2	1390	c.734T>A	c.(733-735)gTg>gAg	p.V245E	CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000540488.1_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.V245E|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000541047.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	245						axon|endoplasmic reticulum membrane|growth cone|integral to membrane				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						CACAATGGCCACCTTGTTCCT	0.587000										HNSCC(69;0.2)			18	58					0	0	0.539581	0	0
PLCG1	5335	broad.mit.edu	37	20	39793623	39793623	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr20:39793623G>A	ENST00000373272.2	+	13	1673	c.1268G>A	c.(1267-1269)aGa>aAa	p.R423K	PLCG1_ENST00000373271.1_Missense_Mutation_p.R423K|PLCG1_ENST00000244007.3_Missense_Mutation_p.R423K	NM_002660.2	NP_002651.2	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	423	PI-PLC X-box.				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				GCCCAGCAGAGAAACATGGCC	0.567000													8	33					0	0	0.307466	0	0
ATP7A	538	broad.mit.edu	37	X	77245061	77245061	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chrX:77245061A>T	ENST00000341514.6	+	4	1098	c.943A>T	c.(943-945)Agg>Tgg	p.R315W	ATP7A_ENST00000343533.5_Missense_Mutation_p.R315W|ATP7A_ENST00000350425.4_Intron	NM_000052.5	NP_000043.3	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	315	HMA 3.				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						TTTAGAGAATAGGTCTGCCAT	0.388000													34	166					0	0	0.779181	0	0
IGKV1D-17	28900	broad.mit.edu	37	2	90121878	90121878	+	RNA	SNP	C	C	T			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr2:90121878C>T	ENST00000483379.1	+	0	277																											CTCCATCTGCCATGTCTGCAT	0.448000													34	205					0	0	0.779181	0	0
L1CAM	3897	broad.mit.edu	37	X	153135917	153135917	+	Silent	SNP	G	G	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chrX:153135917G>A	ENST00000370060.1	-	8	921	c.732C>T	c.(730-732)ttC>ttT	p.F244F	L1CAM_ENST00000543994.1_Silent_p.F246F|L1CAM_ENST00000538883.1_Silent_p.F246F|L1CAM_ENST00000370055.1_Silent_p.F239F|L1CAM_ENST00000370057.3_Silent_p.F244F|L1CAM_ENST00000361981.3_Silent_p.F239F|L1CAM_ENST00000361699.4_Silent_p.F244F	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	244	Ig-like C2-type 3.				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)					AGTTGGTGGGGAAGAGCAGGC	0.637000													9	36					0	0	0.361761	0	0
MRPS15	64960	broad.mit.edu	37	1	36929441	36929441	+	Silent	SNP	G	G	C			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr1:36929441G>C	ENST00000373116.5	-	2	302	c.141C>G	c.(139-141)ctC>ctG	p.L47L		NM_031280.3	NP_112570.2	P82914	RT15_HUMAN	mitochondrial ribosomal protein S15	47				GGGSAKFPFNQWGLQPRSLLLQAARGYVVRKPAQSRLDDDP PPSTLLKDYQNV -> AVGAPSFLSTSGACSLEVSSSRPRA DMSSGNQPSLGWMMTHLLLRCSKTTRMS (in Ref. 2; AAG44697).	translation	mitochondrial small ribosomal subunit|nuclear membrane	structural constituent of ribosome			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)	14		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GCGCGGCCTGGAGGAGGAGAC	0.607000													6	36					0	0	0.278610	0	0
TGFBR2	7048	broad.mit.edu	37	3	30715717	30715717	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr3:30715717T>C	ENST00000295754.5	+	5	1757	c.1375T>C	c.(1375-1377)Tct>Cct	p.S459P	TGFBR2_ENST00000359013.4_Missense_Mutation_p.S484P	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	459	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			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						GGAAATGACATCTCGCTGTAA	0.463000													28	48					0	0	0.729181	0	0
MATN1	4146	broad.mit.edu	37	1	31188840	31188840	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr1:31188840C>T	ENST00000373765.4	-	5	1158	c.1123G>A	c.(1123-1125)Ggg>Agg	p.G375R		NM_002379.3	NP_002370.1	P21941	MATN1_HUMAN	matrilin 1, cartilage matrix protein	375	VWFA 2.				protein complex assembly	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649)		TTCTGGGCCCCGGGCCTAGCC	0.552000													11	73					0	0	0.411799	0	0
CLMN	79789	broad.mit.edu	37	14	95658065	95658065	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr14:95658065C>T	ENST00000298912.4	-	13	2958	c.2845G>A	c.(2845-2847)Gcc>Acc	p.A949T	CLMN_ENST00000557215.1_5'UTR|CLMN_ENST00000556441.1_Splice_Site_p.A14_splice	NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	949						integral to membrane	actin binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		GAGCTGTTGGCCTTCCTACAG	0.567000													9	39					0	0	0.361761	0	0
KIAA1462	57608	broad.mit.edu	37	10	30316132	30316132	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr10:30316132G>C	ENST00000375377.1	-	3	3046	c.2945C>G	c.(2944-2946)tCa>tGa	p.S982*		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	982										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						TGCGTCACTTGATCTTGAAGA	0.527000													29	91					0	0	0.729181	0	0
HAVCR2	84868	broad.mit.edu	37	5	156514184	156514184	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr5:156514184C>T	ENST00000307851.4	-	7	1565	c.835G>A	c.(835-837)Gag>Aag	p.E279K	HAVCR2_ENST00000522593.1_Missense_Mutation_p.E251K	NM_032782.4	NP_116171.3	Q8TDQ0	HAVR2_HUMAN	hepatitis A virus cellular receptor 2	279						integral to membrane				cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CAATAATACTCATTGGGCTCC	0.463000													11	43					0	0	0.387290	0	0
SEMA5B	54437	broad.mit.edu	37	3	122629868	122629868	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr3:122629868G>A	ENST00000195173.4	-	22	3544	c.3241C>T	c.(3241-3243)Cca>Tca	p.P1081S	SEMA5B_ENST00000357599.3_Missense_Mutation_p.A1039V|SEMA5B_ENST00000451055.2_Missense_Mutation_p.A1093V			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	0					cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		GATGCCCGTGGCCACCAAGTG	0.597000													5	21					0	0	0.184627	0	0
SCAF4	57466	broad.mit.edu	37	21	33063182	33063182	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr21:33063182C>T	ENST00000286835.7	-	15	2195	c.1813G>A	c.(1813-1815)Gac>Aac	p.D605N	SCAF4_ENST00000399804.1_Missense_Mutation_p.D605N|SCAF4_ENST00000434667.3_Missense_Mutation_p.D590N	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	605				WDK -> CDN (in Ref. 1; AAD09327).		nucleus	nucleotide binding|RNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						TTGACTTTGTCCCATGGAATA	0.393000													21	76					0	0	0.624587	0	0
ARFGEF1	10565	broad.mit.edu	37	8	68208832	68208832	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr8:68208832G>A	ENST00000262215.3	-	5	862	c.473C>T	c.(472-474)gCa>gTa	p.A158V		NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	158					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TGATGTTACTGCAGTAAGTAA	0.348000													3	31					0	0	0.115264	0	0
CHAF1B	8208	broad.mit.edu	37	21	37769777	37769777	+	Silent	SNP	G	G	A			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr21:37769777G>A	ENST00000314103.4	+	6	697	c.546G>A	c.(544-546)ttG>ttA	p.L182L	CHAF1B_ENST00000480486.1_3'UTR	NM_005441.2	NP_005432.1	Q13112	CAF1B_HUMAN	chromatin assembly factor 1, subunit B (p60)	182					cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|cytoplasm	chromatin binding|histone binding|unfolded protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2)	20						GGGACCCTTTGGGTCAATATG	0.363000													11	34					0	0	0.435327	0	0
RYR3	6263	broad.mit.edu	37	15	34115205	34115205	+	Silent	SNP	A	A	G			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr15:34115205A>G	ENST00000389232.4	+	81	11074	c.11004A>G	c.(11002-11004)ctA>ctG	p.L3668L	RYR3_ENST00000415757.3_Silent_p.L3663L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3668					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)		AGAAAATGCTAGATTACCTAA	0.433000													5	34					0	0	0.184627	0	0
PADI2	11240	broad.mit.edu	37	1	17413121	17413121	+	Frame_Shift_Del	DEL	A	A	-	rs2076615	byFrequency	TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr1:17413121delA	ENST00000375486.4	-	7	792	c.729delT	c.(727-729)ggfs	p.G244fs	PADI2_ENST00000444885.2_Frame_Shift_Del_p.V162fs|PADI2_ENST00000375481.1_Frame_Shift_Del_p.G244fs	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	244					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	CCGCGGAGCCACCCGTGTACT	0.597													8	74	---	---	---	---					
GALNT13	114805	broad.mit.edu	37	2	155102369	155102369	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr2:155102369delC	ENST00000392825.3	+	7	1298	c.731delC	c.(730-732)atfs	p.T244fs	GALNT13_ENST00000409237.1_Frame_Shift_Del_p.T244fs	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	244						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						AGTGATGATACTTTTGAATAT	0.373													17	68	---	---	---	---					
KCNN2	3781	broad.mit.edu	37	5	113698631	113698632	+	In_Frame_Ins	INS	-	-	GCC	rs34838882	by1000genomes	TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr5:113698631_113698632insGCC	ENST00000512097.3	+	2	1177_1178	c.159_160insGCC	c.(157-162)gcccgc>gcGCCccgc	p.53_54AR>APR	KCNN2_ENST00000264773.3_In_Frame_Ins_p.53_54AR>APR			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	53	Poly-Ala.					integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)		CTGCAGCCGCTGCCGCCGCCGC	0.703													3	5	---	---	---	---					
RP11-586K2.1	0	broad.mit.edu	37	8	89497525	89497525	+	RNA	DEL	T	T	-			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr8:89497525delT	ENST00000521433.1	+	0	179				RP11-586K2.1_ENST00000523254.1_RNA																							CCCAAAATAATTTTTTTTGGA	0.368													2	4	---	---	---	---					
NECAB1	64168	broad.mit.edu	37	8	91836982	91836982	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr8:91836982delT	ENST00000417640.2	+	3	499	c.162delT	c.(160-162)tafs	p.Y54fs	NECAB1_ENST00000521954.1_3'UTR|RP11-662G23.1_ENST00000517884.1_RNA	NM_022351.4	NP_071746.1	Q8N987	NECA1_HUMAN	N-terminal EF-hand calcium binding protein 1	54	EF-hand 1.				antibiotic biosynthetic process	cytoplasm	calcium ion binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	12			BRCA - Breast invasive adenocarcinoma(11;0.0499)			TCAAAGCATATTTTGCAGATG	0.313													2	4	---	---	---	---					
PLEC	5339	broad.mit.edu	37	8	144993120	144993122	+	In_Frame_Del	DEL	GAT	GAT	-			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr8:144993120_144993122delGAT	ENST00000322810.4	-	32	11447_11449	c.11278_11280delATC	c.(11278-11280)del	p.I3760del	PLEC_ENST00000357649.2_In_Frame_Del_p.I3627del|PLEC_ENST00000345136.3_In_Frame_Del_p.I3623del|PLEC_ENST00000527096.1_In_Frame_Del_p.I3646del|PLEC_ENST00000398774.2_In_Frame_Del_p.I3591del|PLEC_ENST00000354589.3_In_Frame_Del_p.I3623del|PLEC_ENST00000436759.2_In_Frame_Del_p.I3650del|PLEC_ENST00000354958.2_In_Frame_Del_p.I3601del|PLEC_ENST00000356346.3_In_Frame_Del_p.I3609del	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3760	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CAATGATCTCGATGATGATGATG	0.621													15	68	---	---	---	---					
ANO3	63982	broad.mit.edu	37	11	26558965	26558966	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr11:26558965_26558966delTT	ENST00000256737.3	+	10	1841_1842	c.989_990delTT	c.(988-990)cfs	p.L330fs	ANO3_ENST00000531568.1_Frame_Shift_Del_p.L184fs|ANO3_ENST00000525139.1_Frame_Shift_Del_p.L314fs|ANO3_ENST00000537978.1_Frame_Shift_Del_p.L314fs	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	330						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						ATCCGTAAACTTATAAACAATG	0.361													16	82	---	---	---	---					
POLDIP2	26073	broad.mit.edu	37	17	26684394	26684395	+	Splice_Site	INS	-	-	G	rs113730440		TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr17:26684394_26684395insG	ENST00000540200.1	-	1	78		c.e1+1		POLDIP2_ENST00000003607.4_5'UTR	NM_015584.3	NP_056399.1	Q9Y2S7	PDIP2_HUMAN	polymerase (DNA-directed), delta interacting protein 2							mitochondrial nucleoid|nucleus						all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		AGAGCGGCTTTGCCACCGGGCC	0.762													3	6	---	---	---	---					
DSG3	1830	broad.mit.edu	37	18	29052346	29052346	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-7411-01A-11D-2078-08	TCGA-CV-7411-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	790e387e-9e87-48d0-bc9d-2bc92f20abc5	4b6c7938-cf69-4026-89db-605d1a31ac18	g.chr18:29052346delT	ENST00000257189.4	+	13	2080	c.1997delT	c.(1996-1998)atfs	p.I666fs		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	666					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GAAGGAACAATTCATCAGTGG	0.453													13	42	---	---	---	---