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
PSD	5662	broad.mit.edu	37	10	104176151	104176151	+	Silent	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr10:104176151G>A	ENST00000020673.5	-	2	1171	c.645C>T	c.(643-645)ttC>ttT	p.F215F	PSD_ENST00000406432.1_Silent_p.F215F	NM_001270966.1|NM_002779.3	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	215					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)		CCTGGTTCAGGAATCCAGTGT	0.622000													4	0					0	0	1	0	0
COL20A1	57642	broad.mit.edu	37	20	61946769	61946769	+	Silent	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr20:61946769C>T	ENST00000422202.1	+	19	2591	c.2523C>T	c.(2521-2523)ctC>ctT	p.L841L	COL20A1_ENST00000435874.1_Silent_p.L841L|COL20A1_ENST00000326996.6_Silent_p.L834L|COL20A1_ENST00000358894.6_Silent_p.L834L			Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	834					cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					GCCCAGCCCTCCGCCCTGACG	0.697000													4	8					0	0	1	0	0
USP28	57646	broad.mit.edu	37	11	113673914	113673914	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr11:113673914G>A	ENST00000003302.4	-	23	2896	c.2828C>T	c.(2827-2829)tCc>tTc	p.S943F	USP28_ENST00000544967.1_Missense_Mutation_p.S619F|USP28_ENST00000545540.1_Missense_Mutation_p.S786F|USP28_ENST00000260188.5_Missense_Mutation_p.S911F	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	943					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		AGCAATCACGGATTCTTTGAC	0.463000													52	68					0	0	1	0	0
TMEM8B	51754	broad.mit.edu	37	9	35853233	35853233	+	Silent	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr9:35853233G>A	ENST00000377988.2	+	12	2350	c.1062G>A	c.(1060-1062)ctG>ctA	p.L354L	TMEM8B_ENST00000377991.4_Silent_p.L354L	NM_001042590.2	NP_001036055.1	A6NDV4	TMM8B_HUMAN	transmembrane protein 8B	354					cell-matrix adhesion|regulation of growth|regulation of mitotic cell cycle	cell surface|endoplasmic reticulum|integral to membrane|mitochondrion|nucleus|plasma membrane	protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	7						TCTTCGCCCTGGGGATCTTGG	0.607000													56	13					0	0	1	0	0
MOCS1	4337	broad.mit.edu	37	6	39895144	39895144	+	Silent	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr6:39895144G>A	ENST00000373186.4	-	1	311	c.174C>T	c.(172-174)tcC>tcT	p.S58S	MOCS1_ENST00000308559.7_Silent_p.S58S|MOCS1_ENST00000340692.5_Silent_p.S58S|MOCS1_ENST00000373188.2_Silent_p.S58S|MOCS1_ENST00000373175.4_Silent_p.S29S|MOCS1_ENST00000432280.2_Silent_p.S29S|MOCS1_ENST00000425303.2_Silent_p.S58S|MOCS1_ENST00000373195.3_Intron	NM_005943.5	NP_005934.2	Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis 1	58	Molybdenum cofactor biosynthesis protein A.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					TGAGGAAGGCGGAGAAGGGGG	0.652000													8	25					0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240256724	240256724	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:240256724C>T	ENST00000319653.9	+	1	1545	c.1315C>T	c.(1315-1317)Cag>Tag	p.Q439*		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	439					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GTCCCCTAATCAGAGCCCCAG	0.662000													75	68					0	0	1	0	0
WWC1	23286	broad.mit.edu	37	5	167850845	167850845	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr5:167850845C>T	ENST00000265293.4	+	11	2084	c.1582C>T	c.(1582-1584)Cca>Tca	p.P528S	WWC1_ENST00000521089.1_Missense_Mutation_p.P528S	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	528					cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		GTCTGGCACCCCAAAGTCCAT	0.637000													24	24					0	0	1	0	0
MYT1L	23040	broad.mit.edu	37	2	1926536	1926536	+	Silent	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr2:1926536G>A	ENST00000399161.2	-	10	1752	c.1005C>T	c.(1003-1005)ttC>ttT	p.F335F	MYT1L_ENST00000428368.2_Silent_p.F335F	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	335					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TGGCCAGGTCGAAGCACTGAT	0.562000													29	37					0	0	1	0	0
OSMR	9180	broad.mit.edu	37	5	38881793	38881793	+	Silent	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr5:38881793G>A	ENST00000274276.3	+	4	747	c.345G>A	c.(343-345)aaG>aaA	p.K115K	OSMR_ENST00000502536.1_Silent_p.K115K	NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	115					cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					TAAGAATAAAGAGTTTGGTGG	0.488000													26	34					0	0	1	0	0
CSN3	1448	broad.mit.edu	37	4	71114793	71114793	+	Missense_Mutation	SNP	C	C	T	rs150281469	byFrequency	TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr4:71114793C>T	ENST00000304954.3	+	4	252	c.166C>T	c.(166-168)Cct>Tct	p.P56S		NM_005212.2	NP_005203.2	P07498	CASK_HUMAN	casein kappa	56						extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						AAATAGCTATCCTTATTATGG	0.368000													56	86					0	0	1	0	0
EPS8L1	54869	broad.mit.edu	37	19	55594839	55594839	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr19:55594839G>A	ENST00000201647.6	+	13	1364	c.1308G>A	c.(1306-1308)tgG>tgA	p.W436*	EPS8L1_ENST00000586329.1_Nonsense_Mutation_p.W418*|EPS8L1_ENST00000592824.1_3'UTR|EPS8L1_ENST00000540810.1_Nonsense_Mutation_p.W372*|EPS8L1_ENST00000245618.5_Nonsense_Mutation_p.W309*|EPS8L1_ENST00000588359.1_Nonsense_Mutation_p.W90*	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	EPS8-like 1	436						cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		GCCGCGCCTGGGAGGACCCAG	0.711000													5	13					0	0	1	0	0
PRG4	10216	broad.mit.edu	37	1	186276981	186276981	+	Silent	SNP	A	A	G			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:186276981A>G	ENST00000445192.2	+	7	2175	c.2130A>G	c.(2128-2130)aaA>aaG	p.K710K	PRG4_ENST00000367485.4_Silent_p.K617K|PRG4_ENST00000367483.4_Silent_p.K669K|PRG4_ENST00000367486.3_Silent_p.K667K|PRG4_ENST00000367484.3_Intron	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	710	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CTACCCCTAAAGGGACTGCTC	0.582000													6	187					0	0	1	0	0
ZFC3H1	196441	broad.mit.edu	37	12	72017251	72017251	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr12:72017251G>A	ENST00000378743.3	-	24	4991	c.4633C>T	c.(4633-4635)Cca>Tca	p.P1545S		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	1545					RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TCATTAGATGGATCATAAAAT	0.348000													38	51					0	0	1	0	0
OR4C15	81309	broad.mit.edu	37	11	55322128	55322128	+	Missense_Mutation	SNP	T	T	G			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr11:55322128T>G	ENST00000314644.2	+	1	346	c.346T>G	c.(346-348)Ttg>Gtg	p.L116V		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L116V(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						GTACTTCTTCTTGGGCTTCCT	0.448000										HNSCC(20;0.049)			66	67					0	0	1	0	0
KY	339855	broad.mit.edu	37	3	134322777	134322777	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr3:134322777C>T	ENST00000508956.1	-	10	1624	c.1567G>A	c.(1567-1569)Gaa>Aaa	p.E523K	KY_ENST00000423778.2_Missense_Mutation_p.E544K|KY_ENST00000503669.1_3'UTR			Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase	544						cytoskeleton|Z disc	peptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						TTTCCTGGTTCCTGCCTCTTC	0.517000													16	31					0	0	1	0	0
VWA3A	146177	broad.mit.edu	37	16	22151497	22151497	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr16:22151497G>A	ENST00000389398.5	+	23	2411	c.2315G>A	c.(2314-2316)aGa>aAa	p.R772K	VWA3A_ENST00000389397.4_5'UTR	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	772						extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		GACCCTGACAGAGAGAAGAGC	0.522000													8	24					0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36893258	36893258	+	Silent	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr3:36893258G>A	ENST00000429976.2	-	14	4954	c.4707C>T	c.(4705-4707)ggC>ggT	p.G1569G	TRANK1_ENST00000428977.2_Silent_p.G1019G|TRANK1_ENST00000301807.6_Silent_p.G1019G			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1569					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CAAATTCTAAGCCTTTTGCTT	0.363000													6	6					0	0	1	0	0
CGN	57530	broad.mit.edu	37	1	151508126	151508126	+	Silent	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:151508126C>T	ENST00000271636.7	+	17	3178	c.3045C>T	c.(3043-3045)gaC>gaT	p.D1015D		NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	1009						myosin complex|tight junction	actin binding|motor activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			CTCGGCAGGACCTGGAGTGTG	0.567000													56	43					0	0	1	0	0
ABCB4	5244	broad.mit.edu	37	7	87092077	87092077	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr7:87092077G>A	ENST00000265723.4	-	4	394	c.283C>T	c.(283-285)Cca>Tca	p.P95S	ABCB4_ENST00000545634.1_Missense_Mutation_p.P95S|ABCB4_ENST00000453593.1_Missense_Mutation_p.P95S|ABCB4_ENST00000359206.3_Missense_Mutation_p.P95S|ABCB4_ENST00000358400.3_Missense_Mutation_p.P95S	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	95	ABC transmembrane type-1 1.		P -> S.		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)					TGCTTACCTGGAAAGGAGAAG	0.363000													18	27					0	0	1	0	0
ARHGEF10	9639	broad.mit.edu	37	8	1814708	1814708	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr8:1814708C>T	ENST00000518288.1	+	7	800	c.637C>T	c.(637-639)Cga>Tga	p.R213*	ARHGEF10_ENST00000262112.6_Nonsense_Mutation_p.R213*|ARHGEF10_ENST00000398560.1_Nonsense_Mutation_p.R213*|ARHGEF10_ENST00000349830.3_Nonsense_Mutation_p.R188*|ARHGEF10_ENST00000520359.1_Nonsense_Mutation_p.R189*|ARHGEF10_ENST00000398564.1_Nonsense_Mutation_p.R213*			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	213					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		TCAAGTCGGTCGAGAGGACAG	0.557000													44	94					0	0	1	0	0
ASB10	136371	broad.mit.edu	37	7	150883675	150883675	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr7:150883675C>T	ENST00000422024.1	-	2	648	c.523G>A	c.(523-525)Gaa>Aaa	p.E175K	ASB10_ENST00000275838.1_Missense_Mutation_p.E130K|ASB10_ENST00000434669.1_Missense_Mutation_p.E175K|ASB10_ENST00000420175.2_Missense_Mutation_p.E130K|ASB10_ENST00000377867.3_Missense_Mutation_p.E115K	NM_001142459.1	NP_001135931.2	Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box containing 10	130					intracellular signal transduction					NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGCAGGACTTCCGTGTGGCCA	0.677000													4	10					0	0	1	0	0
EIF4E	1977	broad.mit.edu	37	4	99808247	99808247	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr4:99808247G>A	ENST00000450253.2	-	5	1906	c.382C>T	c.(382-384)Cgc>Tgc	p.R128C	EIF4E_ENST00000505992.1_Missense_Mutation_p.R128C|EIF4E_ENST00000504432.1_Missense_Mutation_p.R156C|EIF4E_ENST00000280892.6_Missense_Mutation_p.R148C	NM_001968.3	NP_001959.1	P06730	IF4E_HUMAN	eukaryotic translation initiation factor 4E	128					G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|interspecies interaction between organisms|mRNA export from nucleus|nuclear-transcribed mRNA poly(A) tail shortening|positive regulation of mitotic cell cycle|regulation of translation	cytoplasmic mRNA processing body|cytosol|eukaryotic translation initiation factor 4F complex|mRNA cap binding complex|RNA-induced silencing complex	protein binding|RNA cap binding|translation initiation factor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)|LUSC - Lung squamous cell carcinoma(721;0.00227)		AGCCAAAAGCGATCGAGGTCA	0.373000													70	88					0	0	1	0	0
LMOD3	56203	broad.mit.edu	37	3	69168212	69168212	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr3:69168212C>T	ENST00000420581.2	-	2	1473	c.1294G>A	c.(1294-1296)Gag>Aag	p.E432K	LMOD3_ENST00000489031.1_Missense_Mutation_p.E432K|LMOD3_ENST00000475434.1_Missense_Mutation_p.E432K	NM_198271.3	NP_938012.2	Q0VAK6	LMOD3_HUMAN	leiomodin 3 (fetal)	432						cytoplasm|cytoskeleton	tropomyosin binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)	13		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)		CCCAACAGCTCCCACATCCCA	0.547000													29	40					0	0	1	0	0
PILRA	29992	broad.mit.edu	37	7	99971334	99971334	+	Silent	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr7:99971334C>T	ENST00000198536.2	+	1	267	c.55C>T	c.(55-57)Ctg>Ttg	p.L19L	PILRA_ENST00000350573.2_Silent_p.L19L|PILRA_ENST00000394000.2_Silent_p.L19L|PILRA_ENST00000453419.1_Silent_p.L19L	NM_013439.2	NP_038467.2	Q9UKJ1	PILRA_HUMAN	paired immunoglobin-like type 2 receptor alpha	19					interspecies interaction between organisms	extracellular region|integral to membrane|plasma membrane	protein binding|receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	15	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCCAGCATTTCTGCAGCCTAG	0.647000													47	59					0	0	1	0	0
CA5B	11238	broad.mit.edu	37	X	15800757	15800757	+	Silent	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chrX:15800757C>T	ENST00000318636.3	+	8	1060	c.924C>T	c.(922-924)ccC>ccT	p.P308P	CA5B_ENST00000454127.2_Silent_p.P308P	NM_007220.3	NP_009151.1	Q9Y2D0	CAH5B_HUMAN	carbonic anhydrase VB, mitochondrial	308					one-carbon metabolic process	mitochondrion	carbonate dehydratase activity|zinc ion binding			endometrium(1)|kidney(2)|lung(3)|prostate(1)|stomach(2)	9	Hepatocellular(33;0.183)					AAGCGAAACCCAAGCCGGCCA	0.433000													52	10					0	0	1	0	0
PKP3	11187	broad.mit.edu	37	11	400083	400083	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr11:400083C>T	ENST00000331563.2	+	6	1466	c.1390C>T	c.(1390-1392)Ctc>Ttc	p.L464F		NM_007183.2	NP_009114.1	Q9Y446	PKP3_HUMAN	plakophilin 3	464					cell adhesion	desmosome|nucleus	binding			breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGGTCCCCCCCTCATCCAGCA	0.677000													7	5					0	0	1	0	0
UROC1	131669	broad.mit.edu	37	3	126222860	126222860	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr3:126222860C>T	ENST00000290868.2	-	9	933	c.880G>A	c.(880-882)Gac>Aac	p.D294N	UROC1_ENST00000383579.3_Missense_Mutation_p.D294N	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	294					histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		ATGCAGCGGTCCAAGCTGTCA	0.607000													46	58					0	0	1	0	0
ZNF300	91975	broad.mit.edu	37	5	150275189	150275189	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr5:150275189C>T	ENST00000446148.2	-	7	2087	c.1660G>A	c.(1660-1662)Gga>Aga	p.G554R	ZNF300_ENST00000427179.1_3'UTR|ZNF300_ENST00000418587.2_Missense_Mutation_p.G502R|ZNF300_ENST00000394226.2_Missense_Mutation_p.G538R|ZNF300_ENST00000274599.5_Missense_Mutation_p.G538R	NM_001172831.1	NP_001166302.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300	538					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CGCTGGTGTCCCGGAAGGTGG	0.428000													25	31					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179571228	179571228	+	Silent	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr2:179571228C>T	ENST00000589042.1	-	102	29597	c.29373G>A	c.(29371-29373)agG>agA	p.R9791R	TTN_ENST00000342992.6_Silent_p.R8547R|TTN_ENST00000591111.1_Silent_p.R9474R|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9474	Ig-like 79.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTGTTTCTTCCTTTCATCCA	0.383000													11	18					0	0	1	0	0
CHRNB2	1141	broad.mit.edu	37	1	154544028	154544028	+	Silent	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:154544028C>T	ENST00000368476.3	+	5	993	c.729C>T	c.(727-729)atC>atT	p.I243I		NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	cholinergic receptor, nicotinic, beta 2 (neuronal)	243					B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception	cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Nicotine(DB00184)	ACCTCATCATCCCCTGTGTGC	0.562000													69	152					0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40362865	40362865	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr19:40362865G>A	ENST00000221347.6	-	32	15212	c.15205C>T	c.(15205-15207)Ccc>Tcc	p.P5069S		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	5069						extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TACTCAGAGGGACTCAGCACC	0.647000													77	119					0	0	1	0	0
YTHDC2	64848	broad.mit.edu	37	5	112920141	112920141	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr5:112920141C>T	ENST00000161863.4	+	26	4003	c.3790C>T	c.(3790-3792)Cct>Tct	p.P1264S		NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	1264	Ser-rich.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		TTACCCAAGTCCTTGTGCTAG	0.403000													46	60					0	0	1	0	0
KLF15	28999	broad.mit.edu	37	3	126062715	126062715	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr3:126062715G>A	ENST00000296233.3	-	3	1336	c.1106C>T	c.(1105-1107)tCg>tTg	p.S369L		NM_014079.3	NP_054798.1	Q9UIH9	KLF15_HUMAN	Kruppel-like factor 15	369						nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(7)|ovary(2)|skin(2)	12				GBM - Glioblastoma multiforme(114;0.147)		CCTGTGCCGCGACAGCTCGTC	0.667000													13	5					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179611649	179611649	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr2:179611649C>T	ENST00000360870.5	-	46	15700	c.15478G>A	c.(15478-15480)Gaa>Aaa	p.E5160K	TTN_ENST00000342992.6_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000578746.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	7077	Ig-like 32.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CGCCATATTTCATAAGCTGAA	0.398000													44	65					0	0	1	0	0
IGHV2-26	28455	broad.mit.edu	37	14	106757778	106757778	+	RNA	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr14:106757778C>T	ENST00000390611.2	-	0	252																											TAGGATTTTTCGTCATTCGAA	0.532000													34	1					0	0	1	0	0
TSEN2	80746	broad.mit.edu	37	3	12545048	12545048	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr3:12545048G>A	ENST00000444864.1	+	5	983	c.596G>A	c.(595-597)tGc>tAc	p.C199Y	TSEN2_ENST00000415684.1_Missense_Mutation_p.C199Y|TSEN2_ENST00000383797.5_Missense_Mutation_p.C199Y|TSEN2_ENST00000402228.3_Missense_Mutation_p.C199Y|TSEN2_ENST00000454502.2_Intron|TSEN2_ENST00000284995.6_Missense_Mutation_p.C199Y|TSEN2_ENST00000314571.7_Missense_Mutation_p.C199Y	NM_001145395.1	NP_001138867.1	Q8NCE0	SEN2_HUMAN	TSEN2 tRNA splicing endonuclease subunit	199					mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation	cytoplasm|nucleolus|tRNA-intron endonuclease complex	nucleic acid binding|tRNA-intron endonuclease activity			central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)	19						GGCTCTGGCTGCCACCCAACA	0.577000													11	20					0	0	1	0	0
TIAM1	7074	broad.mit.edu	37	21	32582405	32582405	+	Missense_Mutation	SNP	G	G	C			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr21:32582405G>C	ENST00000286827.3	-	12	2815	c.2344C>G	c.(2344-2346)Cgg>Ggg	p.R782G	TIAM1_ENST00000541036.1_Missense_Mutation_p.R757G	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	782	RBD.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						TCGCCTGGCCGGACGACCGTC	0.552000													28	35					0	0	1	0	0
PSG2	5670	broad.mit.edu	37	19	43575870	43575870	+	Missense_Mutation	SNP	A	A	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr19:43575870A>T	ENST00000406487.1	-	4	1044	c.946T>A	c.(946-948)Ttg>Atg	p.L316M		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	316	Ig-like C2-type 2.				cell migration|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				TTGACTGTCAACGATGTGGAG	0.458000													126	187					0	0	1	0	0
TENM3	55714	broad.mit.edu	37	4	183664346	183664346	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr4:183664346G>T	ENST00000511685.1	+	19	3526	c.3403G>T	c.(3403-3405)Gaa>Taa	p.E1135*	TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Nonsense_Mutation_p.E1135*					teneurin transmembrane protein 3																		GGGAAACGGGGAAAACCAGTT	0.438000													10	27					2.80697e-09	2.82356e-09	1	1	0
TNFRSF8	943	broad.mit.edu	37	1	12164572	12164572	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:12164572G>A	ENST00000263932.2	+	4	627	c.405G>A	c.(403-405)atG>atA	p.M135I	TNFRSF8_ENST00000417814.2_Missense_Mutation_p.M24I	NM_001243.3	NP_001234.2	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	135					cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)		CGGCAGGGATGATTGTCAAGT	0.572000													36	21					0	0	1	0	0
LRRC29	26231	broad.mit.edu	37	16	67241973	67241973	+	Silent	SNP	C	C	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr16:67241973C>A	ENST00000409037.1	-	3	1202	c.306G>T	c.(304-306)ctG>ctT	p.L102L	LRRC29_ENST00000341546.3_Silent_p.L102L|LRRC29_ENST00000409509.1_Silent_p.L102L|LRRC29_ENST00000393992.1_Silent_p.L102L			Q8WV35	LRC29_HUMAN	leucine rich repeat containing 29	102										autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(1)|lung(2)|urinary_tract(1)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		ACAGCTGCCTCAGCTGGAGAA	0.597000													5	1					0.000602214	0.000603988	1	1	0
SGK223	157285	broad.mit.edu	37	8	8234635	8234635	+	Silent	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr8:8234635C>T	ENST00000520004.1	-	3	1548	c.1284G>A	c.(1282-1284)caG>caA	p.Q428Q	SGK223_ENST00000330777.4_Silent_p.Q428Q			Q86YV5	SG223_HUMAN		428							ATP binding|non-membrane spanning protein tyrosine kinase activity										CTATCTTGGCCTGTGACTTGG	0.637000													27	44					0	0	1	0	0
OR2J2	26707	broad.mit.edu	37	6	29141438	29141438	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr6:29141438C>T	ENST00000377167.2	+	1	128	c.26C>T	c.(25-27)tCg>tTg	p.S9L		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	9					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						AATGCAAGTTCGGAAGACTTC	0.368000													24	45					0	0	1	0	0
USP26	83844	broad.mit.edu	37	X	132162210	132162210	+	Silent	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chrX:132162210C>T	ENST00000511190.1	-	6	508	c.39G>A	c.(37-39)ggG>ggA	p.G13G	USP26_ENST00000406273.1_Silent_p.G13G|USP26_ENST00000370832.1_Silent_p.G13G	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	13					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					TCTTGCAGTTCCCTATTTGGA	0.358000													27	2					0	0	1	0	0
EBF2	64641	broad.mit.edu	37	8	25745418	25745418	+	Silent	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr8:25745418G>A	ENST00000520164.1	-	9	1359	c.822C>T	c.(820-822)atC>atT	p.I274I	EBF2_ENST00000408929.3_Silent_p.I126I|EBF2_ENST00000535548.1_Silent_p.I5I	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	274	IPT/TIG.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		AGTTGTCCCCGATGATGATGA	0.498000													36	54					0	0	1	0	0
ATP10B	23120	broad.mit.edu	37	5	160113225	160113225	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr5:160113225C>T	ENST00000327245.5	-	6	1177	c.331G>A	c.(331-333)Gaa>Aaa	p.E111K	CTC-529G1.1_ENST00000524198.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	111					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGGAAGACTTCCATGGAGGGC	0.463000													15	26					0	0	1	0	0
OR5H2	79310	broad.mit.edu	37	3	98002435	98002435	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr3:98002435C>T	ENST00000355273.2	+	1	704	c.704C>T	c.(703-705)tCt>tTt	p.S235F	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005482.1	NP_001005482.1	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H, member 2	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						AAAAAGAAGTCTGTTAGAGGC	0.388000													12	19					0	0	1	0	0
P2RY8	286530	broad.mit.edu	37	X	1585177	1585177	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chrX:1585177C>T	ENST00000381297.4	-	2	485	c.275G>A	c.(274-276)gGg>gAg	p.G92E		NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	92						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				AAGCAGCACCCCGAATACCCA	0.547000			T	CRLF2	"""B-ALL, Downs associated ALL"""								24	36					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9066520	9066520	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr19:9066520G>A	ENST00000397910.4	-	3	21129	c.20926C>T	c.(20926-20928)Ccc>Tcc	p.P6976S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6978	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTACCAGTGGGGACTTCTGAA	0.483000													51	56					0	0	1	0	0
TM4SF5	9032	broad.mit.edu	37	17	4686150	4686150	+	Splice_Site	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr17:4686150G>A	ENST00000270560.3	+	4	428	c.395_splice	c.e4-1	p.G133_splice		NM_003963.2	NP_003954.2	O14894	T4S5_HUMAN	transmembrane 4 L six family member 5	133						integral to plasma membrane				large_intestine(2)|lung(3)|ovary(1)	6						CTCCCACAGGGGAGCTTACTT	0.667000													33	34					0	0	1	0	0
ACSM1	116285	broad.mit.edu	37	16	20635466	20635466	+	Silent	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr16:20635466C>T	ENST00000219151.4	-	13	1762	c.552G>A	c.(550-552)ctG>ctA	p.L184L	ACSM1_ENST00000307493.4_Silent_p.L533L|ACSM1_ENST00000520010.1_Silent_p.L533L			Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	533					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						CATGCTGCTGCAGTTCCTTGG	0.542000													75	87					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179485607	179485607	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr2:179485607C>T	ENST00000589042.1	-	247	45954	c.45730G>A	c.(45730-45732)Gaa>Aaa	p.E15244K	TTN_ENST00000342992.6_Missense_Mutation_p.E12676K|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E13603K|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E6371K|TTN_ENST00000460472.2_Missense_Mutation_p.E6179K|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E6304K|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	13603	Fibronectin type-III 11.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATAGCTTCTTCATTTCTGAAC	0.408000													18	29					0	0	1	0	0
SZT2	23334	broad.mit.edu	37	1	43870123	43870123	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:43870123C>T	ENST00000562955.1	+	4	400	c.400C>T	c.(400-402)Cgg>Tgg	p.R134W	SZT2_ENST00000372450.4_Missense_Mutation_p.R132W|SZT2_ENST00000310739.4_Missense_Mutation_p.R134W	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	134						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						CGGGCTGCTTCGGCCCTTCCG	0.547000													28	43					0	0	1	0	0
ADCY1	107	broad.mit.edu	37	7	45753484	45753484	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr7:45753484G>A	ENST00000297323.7	+	20	3272	c.3250G>A	c.(3250-3252)Ggc>Agc	p.G1084S		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	1084					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	TGGCCTTCAGGGCAGACGTCC	0.607000													43	53					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20975440	20975440	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr16:20975440C>T	ENST00000261383.3	-	53	9765	c.9766G>A	c.(9766-9768)Gat>Aat	p.D3256N	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3256	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GCGGTTTCATCCTCCAGGATG	0.443000													59	56					0	0	1	0	0
ISPD	729920	broad.mit.edu	37	7	16298607	16298607	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr7:16298607G>A	ENST00000407010.2	-	7	963	c.964C>T	c.(964-966)Cat>Tat	p.H322Y	AC004741.3_ENST00000438573.1_RNA|ISPD_ENST00000399310.3_Missense_Mutation_p.H272Y|AC004741.3_ENST00000457112.1_RNA	NM_001101426.3	NP_001094896.1	A4D126	ISPD_HUMAN	isoprenoid synthase domain containing	322					isoprenoid biosynthetic process		nucleotidyltransferase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9						CTGCCAGCATGACCCAGAGCC	0.343000										Multiple Myeloma(15;0.18)			12	23					0	0	1	0	0
RPTN	126638	broad.mit.edu	37	1	152128617	152128617	+	Missense_Mutation	SNP	T	T	C	rs12117644		TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:152128617T>C	ENST00000316073.3	-	3	1022	c.958A>G	c.(958-960)Agt>Ggt	p.S320G		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	320	Gln-rich.		S -> G (in dbSNP:rs12117644).			proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						TCCGTCTGACTGTAGTGGGAA	0.507000													23	1311					0	0	1	0	0
DOCK2	1794	broad.mit.edu	37	5	169509824	169509824	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr5:169509824G>A	ENST00000256935.8	+	52	5535	c.5455G>A	c.(5455-5457)Ggc>Agc	p.G1819S	DOCK2_ENST00000540750.1_Missense_Mutation_p.G880S|DOCK2_ENST00000520908.1_Missense_Mutation_p.G1311S|DOCK2_ENST00000523351.1_3'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1819					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)			GGCTGAAGAAGGCAAACAGAT	0.517000													32	58					0	0	1	0	0
ADH7	131	broad.mit.edu	37	4	100349074	100349074	+	Silent	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr4:100349074G>A	ENST00000437033.2	-	5	923	c.420C>T	c.(418-420)ttC>ttT	p.F140F	ADH7_ENST00000482593.1_Silent_p.F83F|ADH7_ENST00000476959.1_Silent_p.F160F|ADH7_ENST00000209665.4_Silent_p.F152F			P40394	ADH7_HUMAN	alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	152					ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process	cytosol|soluble fraction	alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)	NADH(DB00157)	TGGTGTTCATGAAGTGGTGGA	0.433000													71	91					0	0	1	0	0
ENPP1	5167	broad.mit.edu	37	6	132207842	132207842	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr6:132207842C>T	ENST00000360971.2	+	24	2605	c.2585C>T	c.(2584-2586)aCt>aTt	p.T862I		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	862	Nuclease.				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)	CCTCACAGGACTGATAACAGC	0.383000													30	32					0	0	1	0	0
SLC1A3	6507	broad.mit.edu	37	5	36680671	36680671	+	Silent	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr5:36680671C>T	ENST00000265113.4	+	8	1745	c.1269C>T	c.(1267-1269)ttC>ttT	p.F423F	SLC1A3_ENST00000381918.3_Silent_p.F423F|CTD-2353F22.1_ENST00000510740.1_RNA	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	423					D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		L-Glutamic Acid(DB00142)	AACTGAACTTCGGACAAATTA	0.453000													39	43					0	0	1	0	0
CPXM2	119587	broad.mit.edu	37	10	125539746	125539746	+	Silent	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr10:125539746C>T	ENST00000241305.3	-	7	1069	c.915G>A	c.(913-915)cgG>cgA	p.R305R	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	305					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		TCATCTCGTTCCGGCGGTGAT	0.438000													45	11					0	0	1	0	0
SAMD7	344658	broad.mit.edu	37	3	169644647	169644647	+	Silent	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr3:169644647G>A	ENST00000428432.2	+	6	986	c.597G>A	c.(595-597)gaG>gaA	p.E199E	SAMD7_ENST00000335556.3_Silent_p.E199E	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	199										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			GTGATGCTGAGAGTTCCAAAA	0.463000													19	25					0	0	1	0	0
NAA11	84779	broad.mit.edu	37	4	80246951	80246951	+	Silent	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr4:80246951C>T	ENST00000286794.4	-	1	253	c.81G>A	c.(79-81)caG>caA	p.Q27Q		NM_032693.2	NP_116082.1	Q9BSU3	NAA11_HUMAN	N(alpha)-acetyltransferase 11, NatA catalytic subunit	27	Interaction with NAA15 (By similarity).|N-acetyltransferase.					cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|skin(2)	23						AGTATTTCATCTGGTAGTTCT	0.488000													25	33					0	0	1	0	0
MROH2B	133558	broad.mit.edu	37	5	41000874	41000874	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr5:41000874C>T	ENST00000399564.4	-	38	4706	c.4256G>A	c.(4255-4257)gGa>gAa	p.G1419E	MROH2B_ENST00000506092.2_Missense_Mutation_p.G974E	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		CCACCTTCTTCCTGTTAGGGG	0.443000													7	2					0	0	1	0	0
TRIM42	287015	broad.mit.edu	37	3	140397380	140397380	+	Silent	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr3:140397380C>T	ENST00000286349.3	+	1	500	c.309C>T	c.(307-309)ttC>ttT	p.F103F		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	103						intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TCATCACTTTCCACAAGGGCC	0.557000													19	19					0	0	1	0	0
SDHA	6389	broad.mit.edu	37	5	226103	226103	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr5:226103C>T	ENST00000264932.6	+	5	677	c.562C>T	c.(562-564)Cgg>Tgg	p.R188W	SDHA_ENST00000504309.1_Missense_Mutation_p.R188W|SDHA_ENST00000510361.1_Missense_Mutation_p.R140W	NM_004168.2	NP_004159.2	P31040	DHSA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	188					nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	GCAGGCCCATCGGTGCTGCTG	0.547000									Familial Paragangliomas				59	66					0	0	1	0	0
CDYL2	124359	broad.mit.edu	37	16	80654731	80654731	+	Missense_Mutation	SNP	A	A	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr16:80654731A>T	ENST00000299564.8	-	4	1091	c.936T>A	c.(934-936)gaT>gaA	p.D312E	CDYL2_ENST00000563890.1_Missense_Mutation_p.D313E|CDYL2_ENST00000562812.1_Missense_Mutation_p.D313E|CDYL2_ENST00000566173.1_Missense_Mutation_p.D313E	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	312						nucleus	catalytic activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						GGTAGGAATAATCCAGGCCGC	0.582000													27	4					0	0	1	0	0
SRCAP	10847	broad.mit.edu	37	16	30748473	30748473	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr16:30748473C>T	ENST00000262518.4	+	34	7497	c.7112C>T	c.(7111-7113)tCc>tTc	p.S2371F	SRCAP_ENST00000395059.2_Missense_Mutation_p.S2309F|SRCAP_ENST00000344771.4_Missense_Mutation_p.S2213F	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2371					interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GATGAGAGTTCCTGTGGGACT	0.652000													15	20					0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56466597	56466597	+	Silent	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr19:56466597C>T	ENST00000291971.3	+	3	1244	c.1173C>T	c.(1171-1173)tcC>tcT	p.S391S	NLRP8_ENST00000590542.1_Silent_p.S391S	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	391	NACHT.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TTCTCTTCTCCATGTGCCGGG	0.463000													40	73					0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73962509	73962509	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chrX:73962509C>T	ENST00000373468.1	-	3	2534	c.1883G>A	c.(1882-1884)cGa>cAa	p.R628Q	KIAA2022_ENST00000055682.5_Missense_Mutation_p.R628Q			Q5QGS0	K2022_HUMAN	KIAA2022	628					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TTTAGATTTTCGTTTGCGAGC	0.418000													15	0					0	0	1	0	0
SLC2A2	6514	broad.mit.edu	37	3	170723214	170723214	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr3:170723214C>T	ENST00000314251.3	-	7	902	c.823G>A	c.(823-825)Gaa>Aaa	p.E275K	SLC2A2_ENST00000382808.4_Missense_Mutation_p.E156K	NM_000340.1	NP_000331.1	P11168	GTR2_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 2	275					carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane|membrane fraction	D-glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)			TTTCTCATTTCATTAATATCT	0.388000													6	17					0	0	1	0	0
OR10J3	441911	broad.mit.edu	37	1	159283485	159283485	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:159283485G>A	ENST00000332217.5	-	1	964	c.965C>T	c.(964-966)tCc>tTc	p.S322F		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	322					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					AAACGCAAAGGAAAAGCCTTC	0.388000													31	27					0	0	1	0	0
SLC34A2	10568	broad.mit.edu	37	4	25665876	25665876	+	Silent	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr4:25665876G>A	ENST00000382051.3	+	4	353	c.303G>A	c.(301-303)ttG>ttA	p.L101L	SLC34A2_ENST00000504570.1_Silent_p.L100L|SLC34A2_ENST00000503434.1_Silent_p.L100L	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415.2	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	101					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				TTGGGAGATTGATTTTACTTC	0.478000			T	ROS1	NSCLC								45	63					0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73537502	73537502	+	Silent	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr10:73537502C>T	ENST00000224721.6	+	38	4931	c.4926C>T	c.(4924-4926)ccC>ccT	p.P1642P		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1637	Cadherin 16.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						TCCAGCAGCCCCACTATGAGG	0.582000													9	2					0	0	1	0	0
ATP8B4	79895	broad.mit.edu	37	15	50330995	50330995	+	Missense_Mutation	SNP	T	T	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr15:50330995T>A	ENST00000284509.6	-	6	473	c.332A>T	c.(331-333)aAt>aTt	p.N111I	ATP8B4_ENST00000559829.1_Missense_Mutation_p.N111I|ATP8B4_ENST00000558959.1_5'UTR	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	111					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		AGACTGCCGATTATTCACTTG	0.398000													28	45					0	0	1	0	0
SDHA	6389	broad.mit.edu	37	5	225635	225635	+	Silent	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr5:225635C>T	ENST00000264932.6	+	4	529	c.414C>T	c.(412-414)gcC>gcT	p.A138A	SDHA_ENST00000504309.1_Silent_p.A138A|SDHA_ENST00000510361.1_Intron	NM_004168.2	NP_004159.2	P31040	DHSA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	138					nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	ACCAGGATGCCATCCACTACA	0.592000									Familial Paragangliomas				30	51					0	0	1	0	0
PTCH1	5727	broad.mit.edu	37	9	98242860	98242860	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr9:98242860G>A	ENST00000430669.2	-	6	1144	c.559C>T	c.(559-561)Cct>Tct	p.P187S	PTCH1_ENST00000418258.1_Missense_Mutation_p.P102S|PTCH1_ENST00000331920.6_Missense_Mutation_p.P253S|PTCH1_ENST00000375274.2_Missense_Mutation_p.P252S|PTCH1_ENST00000429896.2_Missense_Mutation_p.P102S|PTCH1_ENST00000437951.1_Missense_Mutation_p.P187S|PTCH1_ENST00000548379.1_5'UTR|PTCH1_ENST00000421141.1_Missense_Mutation_p.P102S			Q13635	PTC1_HUMAN	patched 1	253					embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				CACCGCAAAGGAGGTTTACCT	0.453000													35	3					0	0	1	0	0
KRT15	3866	broad.mit.edu	37	17	39670283	39670283	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr17:39670283C>T	ENST00000254043.3	-	8	4948	c.1363G>A	c.(1363-1365)Gaa>Aaa	p.E455K	KRT15_ENST00000393976.2_Missense_Mutation_p.E455K|KRT15_ENST00000393981.3_3'UTR|KRT15_ENST00000393974.3_Missense_Mutation_p.E290K	NM_002275.3	NP_002266.2	P19012	K1C15_HUMAN	keratin 15	455	Tail.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				ACTTAGATTTCTCTCTTGTGG	0.517000													47	61					0	0	1	0	0
KCNE3	10008	broad.mit.edu	37	11	74168587	74168587	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr11:74168587C>T	ENST00000310128.4	-	3	441	c.22G>A	c.(22-24)Gag>Aag	p.E8K	RP11-702H23.4_ENST00000533008.1_RNA|KCNE3_ENST00000525550.1_Missense_Mutation_p.E8K	NM_005472.4	NP_005463.1	Q9Y6H6	KCNE3_HUMAN	potassium voltage-gated channel, Isk-related family, member 3	8						integral to membrane	voltage-gated potassium channel activity			cervix(1)|large_intestine(1)|lung(1)|ovary(1)	4	Breast(11;2.86e-06)					TACCAGGTCTCCGTTCCATTG	0.557000													31	55					0	0	1	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79058703	79058703	+	Silent	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr15:79058703G>A	ENST00000388820.4	-	19	3760	c.3550C>T	c.(3550-3552)Ctg>Ttg	p.L1184L		NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1184					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						GGTGTCTGCAGGCCATCAGTG	0.602000													13	14					0	0	1	0	0
ARID2	196528	broad.mit.edu	37	12	46245684	46245684	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr12:46245684G>T	ENST00000334344.6	+	15	3950	c.3778G>T	c.(3778-3780)Gaa>Taa	p.E1260*	ARID2_ENST00000422737.1_Nonsense_Mutation_p.E1111*|ARID2_ENST00000444670.1_Nonsense_Mutation_p.E870*|ARID2_ENST00000479608.1_3'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1260					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		ACATGTTCATGAACGTAAAAT	0.433000			"""N, S, F"""		hepatocellular carcinoma								30	29					1.30998e-17	1.32163e-17	1	1	0
SLC41A2	84102	broad.mit.edu	37	12	105282871	105282871	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr12:105282871G>A	ENST00000258538.3	-	4	947	c.820C>T	c.(820-822)Cat>Tat	p.H274Y		NM_032148.3	NP_115524.3	Q96JW4	S41A2_HUMAN	solute carrier family 41 (magnesium transporter), member 2	274						integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	22						AGTATGGAATGATCAAGGTAA	0.393000													37	38					0	0	1	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113518701	113518701	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr7:113518701C>T	ENST00000284601.3	-	4	2514	c.2446G>A	c.(2446-2448)Gaa>Aaa	p.E816K		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	816					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TTCTCCATTTCATCTACACGT	0.373000													28	39					0	0	1	0	0
CDH5	1003	broad.mit.edu	37	16	66426129	66426129	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr16:66426129G>A	ENST00000341529.3	+	7	1208	c.1060G>A	c.(1060-1062)Gga>Aga	p.G354R	CDH5_ENST00000563425.2_Missense_Mutation_p.G354R	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	354	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		CCCTCCCGCGGGAAACAGAGC	0.527000													88	15					0	0	1	0	0
BRWD1	54014	broad.mit.edu	37	21	40604406	40604406	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr21:40604406G>A	ENST00000342449.3	-	24	2863	c.2785C>T	c.(2785-2787)Cca>Tca	p.P929S	BRWD1_ENST00000380800.3_Missense_Mutation_p.P929S|BRWD1_ENST00000333229.2_Missense_Mutation_p.P929S	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	929					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				AGCTCTGCTGGAGTCATCCTC	0.398000													45	40					0	0	1	0	0
HEPH	9843	broad.mit.edu	37	X	65476102	65476102	+	Silent	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chrX:65476102C>T	ENST00000519389.1	+	17	3167	c.2988C>T	c.(2986-2988)acC>acT	p.T996T	HEPH_ENST00000336279.5_Silent_p.T675T|HEPH_ENST00000441993.2_Silent_p.T945T|HEPH_ENST00000419594.1_Silent_p.T753T|HEPH_ENST00000343002.2_Silent_p.T942T|HEPH_ENST00000374727.3_Silent_p.T945T			Q9BQS7	HEPH_HUMAN	hephaestin	942	Plastocyanin-like 6.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						ATGTGGCAACCCATGGGTCCC	0.423000													56	3					0	0	1	0	0
TTLL10	254173	broad.mit.edu	37	1	1119445	1119445	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:1119445G>A	ENST00000379290.1	+	12	1407	c.1234G>A	c.(1234-1236)Gac>Aac	p.D412N	TTLL10_ENST00000379289.1_Missense_Mutation_p.D412N|TTLL10_ENST00000379288.3_Missense_Mutation_p.D339N			Q6ZVT0	TTL10_HUMAN	tubulin tyrosine ligase-like family, member 10	412	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CCATTCCAGCGACCTCGGCGG	0.597000													111	136					0	0	1	0	0
EFNB3	1949	broad.mit.edu	37	17	7611307	7611307	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr17:7611307C>T	ENST00000226091.2	+	2	551	c.154C>T	c.(154-156)Cct>Tct	p.P52S		NM_001406.3	NP_001397.1	Q15768	EFNB3_HUMAN	ephrin-B3	52					cell-cell signaling|interspecies interaction between organisms	integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity			large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	8		all_cancers(10;1.14e-06)|Prostate(122;0.081)				TGTGCTGTACCCTCAGATCGG	0.597000													27	43					0	0	1	0	0
TNRC6A	27327	broad.mit.edu	37	16	24804818	24804818	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr16:24804818C>T	ENST00000395799.3	+	7	3329	c.3200C>T	c.(3199-3201)cCt>cTt	p.P1067L	TNRC6A_ENST00000315183.7_Missense_Mutation_p.P1067L	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1067	Sufficient for interaction with EIF2C1 and EIF2C4.				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)		TGGGGGGAGCCTTCTACTCCA	0.527000													32	41					0	0	1	0	0
ZNF746	155061	broad.mit.edu	37	7	149174108	149174108	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr7:149174108G>A	ENST00000340622.3	-	6	1023	c.743C>T	c.(742-744)cCg>cTg	p.P248L	ZNF746_ENST00000458143.2_Missense_Mutation_p.P248L			Q6NUN9	ZN746_HUMAN	zinc finger protein 746	248					negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent	cytoplasm|nucleus	transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			GGAGGTGGGCGGGATGGTGGT	0.617000													20	30					0	0	1	0	0
GLI1	2735	broad.mit.edu	37	12	57857824	57857824	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr12:57857824C>T	ENST00000228682.2	+	3	234	c.143C>T	c.(142-144)tCc>tTc	p.S48F	GLI1_ENST00000546141.1_Intron|GLI1_ENST00000543426.1_Intron	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	48					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			AACCTCATGTCCGGCCCCCAC	0.547000													85	145					0	0	1	0	0
PDZD2	23037	broad.mit.edu	37	5	32089580	32089580	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr5:32089580C>T	ENST00000438447.1	+	20	6414	c.6026C>T	c.(6025-6027)cCc>cTc	p.P2009L	PDZD2_ENST00000282493.3_Missense_Mutation_p.P2009L			O15018	PDZD2_HUMAN	PDZ domain containing 2	2009					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CTCTCTGAACCCGACAGAGGT	0.612000													89	140					0	0	1	0	0
TMPRSS3	64699	broad.mit.edu	37	21	43816172	43816172	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr21:43816172G>A	ENST00000380399.1	-	1	783	c.80C>T	c.(79-81)tCg>tTg	p.S27L	TMPRSS3_ENST00000291532.3_5'UTR|TMPRSS3_ENST00000398397.3_5'UTR			P57727	TMPS3_HUMAN	transmembrane protease, serine 3	0					cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						AATTAAGAACGAAAGTACCCG	0.552000													9	12					0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26164992	26164992	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr22:26164992G>A	ENST00000335473.7	+	4	1359	c.1109G>A	c.(1108-1110)aGa>aAa	p.R370K	MYO18B_ENST00000407587.2_Missense_Mutation_p.R370K|MYO18B_ENST00000536101.1_Missense_Mutation_p.R370K	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	370						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GACGATCTGAGAATGGGGGAG	0.562000													5	13					0	0	1	0	0
ELMO1	9844	broad.mit.edu	37	7	37252982	37252982	+	Silent	SNP	G	G	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr7:37252982G>T	ENST00000310758.4	-	12	1559	c.912C>A	c.(910-912)ctC>ctA	p.L304L	ELMO1_ENST00000442504.1_Silent_p.L304L|ELMO1_ENST00000448602.1_Silent_p.L304L	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	304					actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						TGTCTTCCAGGAGGTTAAAGG	0.502000													47	42					3.07002e-29	3.11113e-29	1	1	0
SGSM1	129049	broad.mit.edu	37	22	25272586	25272586	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr22:25272586C>T	ENST00000400358.4	+	13	1391	c.1334C>T	c.(1333-1335)tCc>tTc	p.S445F	SGSM1_ENST00000400359.4_Missense_Mutation_p.S500F	NM_001098497.1|NM_001098498.1	NP_001091967.1|NP_001091968.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	500						Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						AACCTCCCATCCCTGTGGCAG	0.557000													82	88					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100675152	100675152	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr7:100675152C>T	ENST00000306151.4	+	3	519	c.455C>T	c.(454-456)cCa>cTa	p.P152L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	152	Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ATGTCAACACCAAGTGAAGAA	0.453000													70	84					0	0	1	0	0
MMP1	4312	broad.mit.edu	37	11	102663438	102663438	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr11:102663438C>T	ENST00000315274.6	-	7	998	c.931G>A	c.(931-933)Gaa>Aaa	p.E311K	WTAPP1_ENST00000525739.2_RNA	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	matrix metallopeptidase 1 (interstitial collagenase)	311	Hemopexin-like 1.				blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)		AGCTCAACTTCCGGGTAGAAG	0.418000													42	52					0	0	1	0	0
KRT8	3856	broad.mit.edu	37	12	53292267	53292267	+	Silent	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr12:53292267C>T	ENST00000552551.1	-	8	1671	c.1239G>A	c.(1237-1239)acG>acA	p.T413T	KRT8_ENST00000546897.1_Silent_p.T413T|KRT8_ENST00000552150.1_Silent_p.T441T|KRT8_ENST00000293308.6_Silent_p.T413T			P05787	K2C8_HUMAN	keratin 8	413	Tail.				cytoskeleton organization|interspecies interaction between organisms	cytoplasm|keratin filament|nuclear matrix|nucleoplasm	protein binding|structural molecule activity			endometrium(5)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(357;0.108)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGGTGGTCTTCGTATGAATAC	0.617000													9	10					0	0	1	0	0
TEX19	400629	broad.mit.edu	37	17	80320315	80320315	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr17:80320315G>A	ENST00000333437.4	+	2	599	c.289G>A	c.(289-291)Gca>Aca	p.A97T		NM_207459.3	NP_997342.1	Q8NA77	TEX19_HUMAN	testis expressed 19	97						nucleus				breast(1)|endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	6						GGGCTCTGAGGCATGGGGGCC	0.647000													33	33					0	0	1	0	0
JPH3	57338	broad.mit.edu	37	16	87678630	87678630	+	Silent	SNP	C	C	T	rs140186033	by1000genomes	TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr16:87678630C>T	ENST00000284262.2	+	2	1391	c.1149C>T	c.(1147-1149)atC>atT	p.I383I		NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	383	Ala-rich.				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		AGGCTGAGATCGCGGCTTCCA	0.672000													18	1					0	0	1	0	0
ATP2B2	491	broad.mit.edu	37	3	10387752	10387752	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr3:10387752C>T	ENST00000397077.1	-	16	2914	c.2339G>A	c.(2338-2340)gGg>gAg	p.G780E	ATP2B2_ENST00000383800.4_Missense_Mutation_p.G780E|ATP2B2_ENST00000352432.4_Missense_Mutation_p.G825E|ATP2B2_ENST00000343816.4_Missense_Mutation_p.G811E|ATP2B2_ENST00000360273.2_Missense_Mutation_p.G825E			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	825					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						GAGTGCAGGCCCGTCGTTGGT	0.657000													23	24					0	0	1	0	0
MAP7	9053	broad.mit.edu	37	6	136677896	136677896	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr6:136677896C>T	ENST00000354570.3	-	16	2359	c.1949G>A	c.(1948-1950)gGa>gAa	p.G650E	MAP7_ENST00000454590.1_Missense_Mutation_p.G672E|MAP7_ENST00000544465.1_Missense_Mutation_p.G635E|MAP7_ENST00000438100.2_Missense_Mutation_p.G635E|MAP7_ENST00000432797.2_Missense_Mutation_p.G504E	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	650					establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		CTTTCCATTTCCCGGAGCGTT	0.443000													26	30					0	0	1	0	0
FIBIN	387758	broad.mit.edu	37	11	27016220	27016220	+	Silent	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr11:27016220C>T	ENST00000318627.2	+	1	593	c.147C>T	c.(145-147)ccC>ccT	p.P49P		NM_203371.1	NP_976249.1	Q8TAL6	FIBIN_HUMAN	fin bud initiation factor homolog (zebrafish)	49						extracellular region|Golgi apparatus				breast(1)|endometrium(2)|lung(7)|upper_aerodigestive_tract(1)	11						ACGATGACCCCGAGAAGTGCC	0.627000													19	30					0	0	1	0	0
MYBPC2	4606	broad.mit.edu	37	19	50958463	50958463	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr19:50958463G>A	ENST00000357701.5	+	19	2164	c.2113G>A	c.(2113-2115)Gag>Aag	p.E705K		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	705	Fibronectin type-III 1.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		CAAGATGATCGAGGGCATCCT	0.517000													35	46					0	0	1	0	0
SYNM	23336	broad.mit.edu	37	15	99671447	99671447	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr15:99671447C>T	ENST00000336292.6	+	5	2999	c.2879C>T	c.(2878-2880)cCc>cTc	p.P960L	RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000560674.1_Missense_Mutation_p.P675L|SYNM_ENST00000328642.7_Missense_Mutation_p.P960L|SYNM_ENST00000561323.1_3'UTR	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN	synemin, intermediate filament protein	961	Tail.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						GAAACCCTTCCCGAGCGCATG	0.637000													9	12					0	0	1	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12887493	12887493	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:12887493C>T	ENST00000535591.1	-	3	559	c.364G>A	c.(364-366)Gaa>Aaa	p.E122K		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	122										NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GTGAGGTATTCATCCAGAGTC	0.473000													169	222					0	0	1	0	0
CCDC43	124808	broad.mit.edu	37	17	42759406	42759406	+	Silent	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr17:42759406G>A	ENST00000315286.8	-	3	401	c.393C>T	c.(391-393)ctC>ctT	p.L131L	CCDC43_ENST00000588210.1_Silent_p.L131L|CCDC43_ENST00000457422.2_Silent_p.L131L|C17orf104_ENST00000588805.1_Intron	NM_144609.2	NP_653210.2	Q96MW1	CCD43_HUMAN	coiled-coil domain containing 43	131										lung(2)	2		Prostate(33;0.0322)				ACTGGGCCAGGAGGGCAGCTT	0.478000													54	92					0	0	1	0	0
OAF	220323	broad.mit.edu	37	11	120099802	120099802	+	Missense_Mutation	SNP	T	T	G			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr11:120099802T>G	ENST00000328965.4	+	4	1286	c.773T>G	c.(772-774)gTg>gGg	p.V258G	OAF_ENST00000531220.1_Missense_Mutation_p.V142G	NM_178507.2	NP_848602.1	Q86UD1	OAF_HUMAN	OAF homolog (Drosophila)	258										kidney(1)|lung(5)	6		Breast(109;0.00663)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)		GACTTCTACGTGCCCCAGAGG	0.632000													31	44					0	0	1	0	0
TRGV5	6978	broad.mit.edu	37	7	38389432	38389432	+	RNA	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr7:38389432C>T	ENST00000390344.2	-	0	191																											GCATGCCTTCCTCTCGGGGGC	0.537000													16	31					0	0	1	0	0
TTLL10	254173	broad.mit.edu	37	1	1115645	1115645	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:1115645G>A	ENST00000379290.1	+	6	604	c.431G>A	c.(430-432)gGg>gAg	p.G144E	TTLL10_ENST00000379289.1_Missense_Mutation_p.G144E|TTLL10_ENST00000379288.3_Missense_Mutation_p.G71E			Q6ZVT0	TTL10_HUMAN	tubulin tyrosine ligase-like family, member 10	144					protein modification process		ATP binding|tubulin-tyrosine ligase activity			haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CTCCTGCTGGGGGGTGGGAAG	0.706000													4	3					0	0	1	0	0
ANO1	55107	broad.mit.edu	37	11	69970484	69970484	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr11:69970484G>A	ENST00000355303.5	+	9	1231	c.926G>A	c.(925-927)gGa>gAa	p.G309E	ANO1_ENST00000538023.1_Missense_Mutation_p.G309E|ANO1_ENST00000531349.1_Missense_Mutation_p.G44E|ANO1_ENST00000530676.1_Missense_Mutation_p.G193E|ANO1_ENST00000398543.2_Missense_Mutation_p.G193E|ANO1_ENST00000316296.5_Missense_Mutation_p.G281E	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	309					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						GCACGCTATGGAGTTTTCTAT	0.582000													25	37					0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2778187	2778187	+	Missense_Mutation	SNP	G	G	C			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr12:2778187G>C	ENST00000399655.1	+	38	4977	c.4712G>C	c.(4711-4713)aGg>aCg	p.R1571T	CACNA1C_ENST00000399641.1_Missense_Mutation_p.R1571T|CACNA1C_ENST00000399606.1_Missense_Mutation_p.R1591T|CACNA1C_ENST00000399638.1_Missense_Mutation_p.R1599T|CACNA1C_ENST00000406454.3_Missense_Mutation_p.R1571T|CACNA1C_ENST00000399629.1_Missense_Mutation_p.R1588T|CACNA1C_ENST00000399595.1_Missense_Mutation_p.R1560T|CACNA1C_ENST00000399601.1_Missense_Mutation_p.R1571T|CACNA1C_ENST00000399621.1_Missense_Mutation_p.R1571T|CACNA1C_ENST00000399603.1_Missense_Mutation_p.R1571T|CACNA1C_ENST00000399591.1_Missense_Mutation_p.R1560T|CACNA1C-AS2_ENST00000545526.1_RNA|CACNA1C_ENST00000402845.3_Missense_Mutation_p.R1571T|CACNA1C_ENST00000344100.3_Missense_Mutation_p.R1593T|CACNA1C_ENST00000399644.1_Missense_Mutation_p.R1571T|CACNA1C_ENST00000399597.1_Missense_Mutation_p.R1571T|CACNA1C_ENST00000399637.1_Missense_Mutation_p.R1571T|CACNA1C_ENST00000347598.4_Missense_Mutation_p.R1619T|CACNA1C_ENST00000399634.1_Missense_Mutation_p.R1571T|CACNA1C_ENST00000327702.7_Missense_Mutation_p.R1571T|CACNA1C_ENST00000399649.1_Missense_Mutation_p.R1558T|CACNA1C_ENST00000399617.1_Missense_Mutation_p.R1571T|CACNA1C_ENST00000335762.5_Missense_Mutation_p.R1596T	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1619					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	ACGGCCCTGAGGATCAAAACA	0.577000													53	77					0	0	1	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19698756	19698756	+	Silent	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr21:19698756C>T	ENST00000284885.3	-	16	1947	c.1914G>A	c.(1912-1914)ggG>ggA	p.G638G		NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN	transmembrane protease, serine 15	638					proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						TACCTGGAATCCCCAAGTGAT	0.408000													64	83					0	0	1	0	0
TSHZ2	128553	broad.mit.edu	37	20	51871276	51871276	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr20:51871276G>A	ENST00000371497.5	+	2	2166	c.1279G>A	c.(1279-1281)Gag>Aag	p.E427K	TSHZ2_ENST00000603338.2_Missense_Mutation_p.E424K|TSHZ2_ENST00000329613.6_Missense_Mutation_p.E424K	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	427					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			GTTAGCAGTGGAGAAAATGCA	0.512000													71	108					0	0	1	0	0
CYP2C18	1562	broad.mit.edu	37	10	96466555	96466555	+	Silent	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr10:96466555C>T	ENST00000285979.6	+	5	856	c.657C>T	c.(655-657)ttC>ttT	p.F219F	CYP2C19_ENST00000464755.1_3'UTR|CYP2C18_ENST00000339022.5_Intron	NM_000772.2	NP_000763.1			cytochrome P450, family 2, subfamily C, polypeptide 18											NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)		GCAATAATTTCCCTGCTCTCA	0.299000													5	0					0	0	1	0	0
CPAMD8	27151	broad.mit.edu	37	19	17081811	17081811	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr19:17081811C>T	ENST00000388925.4	-	14	1643	c.1471G>A	c.(1471-1473)Gag>Aag	p.E491K	CPAMD8_ENST00000443236.1_Silent_p.V748V			Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1799						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GGTTCAGGCTCACTCGGTCGG	0.617000													35	58					0	0	1	0	0
SCN4A	6329	broad.mit.edu	37	17	62019286	62019286	+	Silent	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr17:62019286C>T	ENST00000435607.1	-	24	4432	c.4356G>A	c.(4354-4356)ctG>ctA	p.L1452L	SCN4A_ENST00000578147.1_Silent_p.L1452L	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1452					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	CAATCCGCGCCAGGCGGATCA	0.637000													16	24					0	0	1	0	0
NUP160	23279	broad.mit.edu	37	11	47834483	47834483	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr11:47834483G>A	ENST00000378460.2	-	15	1949	c.1903C>T	c.(1903-1905)Ccg>Tcg	p.P635S	NUP160_ENST00000530326.1_Missense_Mutation_p.P521S|NUP160_ENST00000528501.1_Missense_Mutation_p.P199S|NUP160_ENST00000528071.1_Missense_Mutation_p.P521S	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	635					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						GCCTTTTCCGGAGACTGTAGG	0.378000													25	39					0	0	1	0	0
AIFM1	9131	broad.mit.edu	37	X	129270128	129270128	+	Silent	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chrX:129270128G>A	ENST00000287295.3	-	12	1427	c.1197C>T	c.(1195-1197)ggC>ggT	p.G399G	AIFM1_ENST00000460436.2_Silent_p.G60G|AIFM1_ENST00000346424.2_Silent_p.G112G|AIFM1_ENST00000319908.3_Silent_p.G395G|AIFM1_ENST00000535724.1_3'UTR|AIFM1_ENST00000440263.1_Silent_p.G47G	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	O95831	AIFM1_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 1	399	FAD-dependent oxidoreductase (By similarity).				activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm	DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30						TGGGCTCCAGGCCCACAGCTG	0.468000													29	1					0	0	1	0	0
STPG2	285555	broad.mit.edu	37	4	98761987	98761987	+	Missense_Mutation	SNP	T	T	C			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr4:98761987T>C	ENST00000295268.3	-	9	1230	c.1141A>G	c.(1141-1143)Aga>Gga	p.R381G	STPG2_ENST00000506482.1_Intron	NM_174952.2	NP_777612.1			sperm-tail PG-rich repeat containing 2																		GCATGTTTTCTTTTAGCCACT	0.413000													50	53					0	0	1	0	0
TSPAN17	26262	broad.mit.edu	37	5	176083925	176083925	+	Splice_Site	SNP	C	C	T	rs61753280		TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr5:176083925C>T	ENST00000405525.2	+	8	1015	c.786_splice	c.e8+1	p.L262_splice	TSPAN17_ENST00000515708.1_Splice_Site_p.L259_splice|TSPAN17_ENST00000508164.1_Silent_p.L259L|TSPAN17_ENST00000310032.8_Silent_p.L262L|TSPAN17_ENST00000503045.1_Silent_p.L239L|TSPAN17_ENST00000298564.10_Silent_p.L177L	NM_001006616.2	NP_001006617.2	Q96FV3	TSN17_HUMAN	tetraspanin 17	259						integral to membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	13	all_cancers(89;0.00141)|Renal(175;0.000269)|Lung NSC(126;0.00814)|all_lung(126;0.0133)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCCAGAACCTCGTGAGTGACA	0.662000													22	33					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38768322	38768322	+	Silent	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr3:38768322G>A	ENST00000449082.2	-	16	2861	c.2862C>T	c.(2860-2862)tcC>tcT	p.S954S		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	954					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CCTTGGAGCTGGAGAGTGGGA	0.602000													24	30					0	0	1	0	0
PCSK4	54760	broad.mit.edu	37	19	1487294	1487294	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr19:1487294C>T	ENST00000300954.5	-	7	762	c.701G>A	c.(700-702)gGt>gAt	p.G234D	PCSK4_ENST00000587784.1_5'UTR	NM_017573.3	NP_060043.2	Q6UW60	PCSK4_HUMAN	proprotein convertase subtilisin/kexin type 4	234	Catalytic (By similarity).				proteolysis	integral to membrane	serine-type endopeptidase activity			cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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)		GGTGATGGTACCGTCCAGCAT	0.706000													5	12					0	0	1	0	0
DHDDS	79947	broad.mit.edu	37	1	26772844	26772844	+	Silent	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:26772844C>T	ENST00000360009.2	+	5	438	c.361C>T	c.(361-363)Ctg>Ttg	p.L121L	DHDDS_ENST00000236342.7_Silent_p.L121L|DHDDS_ENST00000374185.3_Silent_p.L121L|DHDDS_ENST00000526219.1_Intron|DHDDS_ENST00000525682.2_Silent_p.L121L|DHDDS_ENST00000427245.2_Silent_p.L121L	NM_024887.3|NM_205861.2	NP_079163.2|NP_995583.1	Q86SQ9	DHDDS_HUMAN	dehydrodolichyl diphosphate synthase	121							protein binding|transferase activity, transferring alkyl or aryl (other than methyl) groups			breast(5)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	15		all_cancers(24;2.04e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.0161)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.166)|LUSC - Lung squamous cell carcinoma(448;0.239)		TATCCGGGTCCTGGGCGATCT	0.537000													43	53					0	0	1	0	0
CYP11B2	1585	broad.mit.edu	37	8	143996515	143996515	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr8:143996515C>T	ENST00000323110.2	-	3	544	c.542G>A	c.(541-543)cGg>cAg	p.R181Q		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	181			R -> W (in CMO-2 deficiency; reduces 18- hydroxylase and abolishes 18-oxidase activities; leaves 11 beta-hydroxylase activity intact; dbSNP:rs28931609).		aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	CAGGCTCCCCCGGGCGTTCTG	0.647000									Familial Hyperaldosteronism type I				5	19					0	0	1	0	0
SETDB2	83852	broad.mit.edu	37	13	50057673	50057673	+	Missense_Mutation	SNP	A	A	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr13:50057673A>T	ENST00000354234.4	+	10	2362	c.1456A>T	c.(1456-1458)Att>Ttt	p.I486F	SETDB2_ENST00000317257.8_Missense_Mutation_p.I498F|SETDB2_ENST00000258672.5_Missense_Mutation_p.I486F	NM_001160308.1	NP_001153780.1	Q96T68	SETB2_HUMAN	SET domain, bifurcated 2	498	SET.				cell division|chromosome segregation|heart looping|left/right axis specification|mitosis|negative regulation of transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone methyltransferase activity (H3-K9 specific)|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	15		Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.1e-09)		CAAGACAGCCATTTTTCAACA	0.244000													6	12					0	0	1	0	0
TRPC5	7224	broad.mit.edu	37	X	111095589	111095589	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chrX:111095589C>T	ENST00000262839.2	-	5	2232	c.1314G>A	c.(1312-1314)atG>atA	p.M438I		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	438					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TTGCAAAATCCATCAGGTTCC	0.423000													55	8					0	0	1	0	0
PCDHA10	56139	broad.mit.edu	37	5	140236088	140236088	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr5:140236088C>T	ENST00000307360.5	+	1	455	c.455C>T	c.(454-456)cCa>cTa	p.P152L	PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.P152L|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1														NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTCGATTTCCACTAGAAGGC	0.423000													64	83					0	0	1	0	0
GTF3C1	2975	broad.mit.edu	37	16	27480849	27480849	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr16:27480849C>T	ENST00000356183.4	-	32	4852	c.4837G>A	c.(4837-4839)Gag>Aag	p.E1613K	GTF3C1_ENST00000561623.1_Missense_Mutation_p.E1613K	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1613	Asp/Glu-rich (acidic).					transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						TCGTCATCCTCCAGGCTGCCG	0.587000													54	70					0	0	1	0	0
KDM6B	23135	broad.mit.edu	37	17	7749407	7749407	+	Missense_Mutation	SNP	C	C	T	rs141369717	byFrequency	TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr17:7749407C>T	ENST00000254846.5	+	6	637	c.248C>T	c.(247-249)cCa>cTa	p.P83L	KDM6B_ENST00000448097.2_Missense_Mutation_p.P83L	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	83	Pro-rich.				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						GCGCCCACTCCAAGACCCCTC	0.637000													7	16					0	0	1	0	0
ADAM7	8756	broad.mit.edu	37	8	24358371	24358371	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr8:24358371C>T	ENST00000175238.6	+	19	2154	c.2071C>T	c.(2071-2073)Cgt>Tgt	p.R691C	RP11-561E1.1_ENST00000519364.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000380789.1_Missense_Mutation_p.R691C|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000520720.1_Missense_Mutation_p.R463C	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	691					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	p.R691C(1)		NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		ACTATTAGTTCGTTACCGAAA	0.373000													40	47					0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10401105	10401105	+	Silent	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr17:10401105C>T	ENST00000226207.5	-	31	4405	c.4311G>A	c.(4309-4311)gaG>gaA	p.E1437E	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1437						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CATTTGTCCTCTCAACATCAA	0.438000													43	81					0	0	1	0	0
CDC25B	994	broad.mit.edu	37	20	3782450	3782450	+	Splice_Site	SNP	G	G	C			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr20:3782450G>C	ENST00000245960.5	+	9	1618		c.e9+1		CDC25B_ENST00000379598.5_Intron|CDC25B_ENST00000439880.2_Splice_Site|CDC25B_ENST00000344256.6_Splice_Site|CDC25B_ENST00000467519.1_Splice_Site|CDC25B_ENST00000340833.4_Splice_Site	NM_004358.3|NM_021872.2|NM_021873.2	NP_004349.1|NP_068658.1|NP_068659.1	P30305	MPIP2_HUMAN	cell division cycle 25B						cell division|G2/M transition of mitotic cell cycle|mitosis|positive regulation of cell proliferation	cytosol|microtubule organizing center|nucleoplasm	protein binding|protein tyrosine phosphatase activity			NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1)	18						AGAGGAAAAGGTGGGCCTCTG	0.582000													16	17					0	0	1	0	0
ERBB4	2066	broad.mit.edu	37	2	213403228	213403228	+	Silent	SNP	G	G	C			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr2:213403228G>C	ENST00000342788.4	-	1	337	c.27C>G	c.(25-27)gtC>gtG	p.V9V	ERBB4_ENST00000402597.1_Silent_p.V9V|ERBB4_ENST00000436443.1_Silent_p.V9V	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	9					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		GGCTCACCCAGACCCAAAGTC	0.612000										TSP Lung(8;0.080)			49	64					0	0	1	0	0
OR5AS1	219447	broad.mit.edu	37	11	55798206	55798206	+	Silent	SNP	C	C	T	rs142110904	byFrequency	TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr11:55798206C>T	ENST00000313555.1	+	1	312	c.312C>T	c.(310-312)ttC>ttT	p.F104F		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	104					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F104F(1)		endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					TGTTTTTCTTCGCTTCTTTTG	0.458000													10	24					0	0	1	0	0
FZD4	8322	broad.mit.edu	37	11	86663408	86663408	+	Silent	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr11:86663408G>A	ENST00000531380.1	-	2	695	c.390C>T	c.(388-390)ccC>ccT	p.P130P	PRSS23_ENST00000533902.2_3'UTR	NM_012193.3	NP_036325.2	Q9ULV1	FZD4_HUMAN	frizzled family receptor 4	130	FZ.				canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|negative regulation of cell-substrate adhesion|neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|progesterone secretion|regulation of vascular endothelial growth factor receptor signaling pathway|substrate adhesion-dependent cell spreading|vasculogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cell projection|cell surface|cytoplasm	cytokine binding|G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding	p.P130P(1)		breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1)	21		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CCTTCAGGACGGGTTCACAGC	0.517000													63	61					0	0	1	0	0
TRPM2	7226	broad.mit.edu	37	21	45821640	45821640	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr21:45821640C>T	ENST00000397928.1	+	16	2843	c.2398C>T	c.(2398-2400)Cac>Tac	p.H800Y	TRPM2_ENST00000397932.2_Missense_Mutation_p.H800Y|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Missense_Mutation_p.H780Y|TRPM2_ENST00000300482.5_Missense_Mutation_p.H800Y	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	800						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GGTGGTCTTCCACCTGAACAT	0.642000													124	154					0	0	1	0	0
OR5AC2	81050	broad.mit.edu	37	3	97806585	97806585	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr3:97806585C>T	ENST00000358642.2	+	1	569	c.569C>T	c.(568-570)tCa>tTa	p.S190L		NM_054106.1	NP_473447.1	Q9NZP5	O5AC2_HUMAN	olfactory receptor, family 5, subfamily AC, member 2	190					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						TTCAAAATTTCATGCAATGGT	0.313000													17	28					0	0	1	0	0
PROKR1	10887	broad.mit.edu	37	2	68882591	68882591	+	Missense_Mutation	SNP	G	G	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr2:68882591G>T	ENST00000303786.3	+	3	1485	c.1065G>T	c.(1063-1065)aaG>aaT	p.K355N	PROKR1_ENST00000394342.2_Missense_Mutation_p.K355N			Q8TCW9	PKR1_HUMAN	prokineticin receptor 1	355						integral to membrane|plasma membrane	neuropeptide Y receptor activity			endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						ACTTCAAAAAGATCATGTTGC	0.512000													28	34					1.2476e-16	1.25683e-16	1	1	0
NOTCH4	4855	broad.mit.edu	37	6	32181549	32181549	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr6:32181549G>A	ENST00000375023.3	-	14	2374	c.2236C>T	c.(2236-2238)Cct>Tct	p.P746S	NOTCH4_ENST00000465528.1_5'UTR	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	746	EGF-like 19.				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CCAGGGCTAGGGTTGCAGGAG	0.592000													26	26					0	0	1	0	0
GPR15	2838	broad.mit.edu	37	3	98250908	98250908	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr3:98250908G>A	ENST00000284311.3	+	1	166	c.31G>A	c.(31-33)Gat>Aat	p.D11N		NM_005290.1	NP_005281.1	P49685	GPR15_HUMAN	G protein-coupled receptor 15	11						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)		Lung(72;0.246)		AGTTTATTTGGATTATTACTA	0.403000													20	27					0	0	1	0	0
XKR7	343702	broad.mit.edu	37	20	30584465	30584465	+	Silent	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr20:30584465G>A	ENST00000217299.3	+	3	1119	c.945G>A	c.(943-945)ctG>ctA	p.L315L		NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related family, member 7	315						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CCCGCGGCCTGGCCTTCGCGC	0.642000													11	28					0	0	1	0	0
CCDC19	25790	broad.mit.edu	37	1	159850480	159850480	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:159850480C>T	ENST00000426543.2	-	8	1108	c.653G>A	c.(652-654)cGa>cAa	p.R218Q	CCDC19_ENST00000476696.1_5'UTR|CCDC19_ENST00000368099.4_Missense_Mutation_p.R303Q			Q9UL16	CCD19_HUMAN	coiled-coil domain containing 19	303						mitochondrion|soluble fraction				endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			TTGCTGCCTTCGTTCCATGTC	0.478000													21	24					0	0	1	0	0
EXPH5	23086	broad.mit.edu	37	11	108382803	108382803	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr11:108382803G>A	ENST00000265843.4	-	6	3541	c.3431C>T	c.(3430-3432)aCc>aTc	p.T1144I	EXPH5_ENST00000525344.1_Missense_Mutation_p.T1137I|EXPH5_ENST00000428840.1_Missense_Mutation_p.T1068I|EXPH5_ENST00000443411.1_Missense_Mutation_p.T956I	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	1144					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		CATGCCTGAGGTCAATGGCTT	0.468000													15	26					0	0	1	0	0
MICAL3	57553	broad.mit.edu	37	22	18370137	18370137	+	Silent	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr22:18370137G>A	ENST00000441493.2	-	14	2308	c.1956C>T	c.(1954-1956)tcC>tcT	p.S652S	MICAL3_ENST00000444520.1_Silent_p.S652S|MICAL3_ENST00000400561.2_Silent_p.S652S|MICAL3_ENST00000207726.7_Silent_p.S652S|MICAL3_ENST00000414725.2_Silent_p.S652S|MICAL3_ENST00000383094.3_Silent_p.S652S|MICAL3_ENST00000585038.1_Silent_p.S652S|MICAL3_ENST00000429452.1_Silent_p.S652S	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	652						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		TGCTTAGGAAGGAGATAGGGG	0.507000													17	19					0	0	1	0	0
KARS	3735	broad.mit.edu	37	16	75669983	75669983	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr16:75669983C>T	ENST00000319410.5	-	6	701	c.580G>A	c.(580-582)Gaa>Aaa	p.E194K	KARS_ENST00000302445.3_Missense_Mutation_p.E166K|KARS_ENST00000568378.1_Intron	NM_001130089.1	NP_001123561.1	Q15046	SYK_HUMAN	lysyl-tRNA synthetase	166					interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing	cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction	ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding			kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	18					L-Lysine(DB00123)	AATTCTTCTTCTGATTTATAA	0.378000													7	2					0	0	1	0	0
SSTR5	6755	broad.mit.edu	37	16	1129256	1129256	+	Silent	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr16:1129256C>T	ENST00000293897.4	+	1	476	c.388C>T	c.(388-390)Ctg>Ttg	p.L130L	SSTR5_ENST00000397547.2_Silent_p.L130L|SSTR5_ENST00000562758.1_Silent_p.L130L	NM_001053.3	NP_001044.1	P35346	SSR5_HUMAN	somatostatin receptor 5	130					negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			endometrium(2)|lung(5)|prostate(1)|skin(1)	9		Hepatocellular(780;0.00369)			Octreotide(DB00104)	TGTCTTCTGCCTGACAGTCAT	0.706000													17	43					0	0	1	0	0
FFAR3	2865	broad.mit.edu	37	19	35849945	35849945	+	Silent	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr19:35849945C>T	ENST00000327809.4	+	2	354	c.153C>T	c.(151-153)gaC>gaT	p.D51D	FFAR3_ENST00000594310.1_Silent_p.D51D	NM_005304.3	NP_005295.1	O14843	FFAR3_HUMAN	free fatty acid receptor 3	51						integral to plasma membrane	G-protein coupled receptor activity|lipid binding			endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			TGGCCGTGGACGTGCTCCTGC	0.662000													51	185					0	0	1	0	0
MROH2B	133558	broad.mit.edu	37	5	41000328	41000328	+	Silent	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr5:41000328C>T	ENST00000399564.4	-	39	4926	c.4476G>A	c.(4474-4476)gtG>gtA	p.V1492V	MROH2B_ENST00000506092.2_Silent_p.V1047V	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		TCACCAGTTTCACACAGAATT	0.498000													40	38					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9066184	9066184	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr19:9066184G>A	ENST00000397910.4	-	3	21465	c.21262C>T	c.(21262-21264)Ccc>Tcc	p.P7088S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7090	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCCAGAGAGGGAGAGCTTTGC	0.502000													26	32					0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22155896	22155896	+	Missense_Mutation	SNP	A	A	C			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr19:22155896A>C	ENST00000397126.4	-	4	2088	c.1940T>G	c.(1939-1941)aTt>aGt	p.I647S	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TGAGACCTTAATAAAGGTTTT	0.398000													5	76					0	0	1	0	0
CYP2F1	1572	broad.mit.edu	37	19	41622449	41622449	+	Silent	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr19:41622449C>T	ENST00000331105.2	+	3	333	c.261C>T	c.(259-261)gcC>gcT	p.A87A		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	87					naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						TGAAGGAGGCCCTGGTGGACC	0.592000													22	44					0	0	1	0	0
COL11A2	1302	broad.mit.edu	37	6	33156227	33156227	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr6:33156227C>T	ENST00000341947.2	-	4	745	c.518G>A	c.(517-519)cGg>cAg	p.R173Q	COL11A2_ENST00000374712.1_Missense_Mutation_p.R173Q|COL11A2_ENST00000374713.1_Missense_Mutation_p.R173Q|COL11A2_ENST00000374714.1_Missense_Mutation_p.R173Q|COL11A2_ENST00000374708.4_Missense_Mutation_p.R173Q|COL11A2_ENST00000361917.1_Missense_Mutation_p.R173Q|COL11A2_ENST00000357486.1_Missense_Mutation_p.R173Q|COL11A2_ENST00000395197.1_Missense_Mutation_p.R173Q|COL11A2_ENST00000395194.1_Missense_Mutation_p.R173Q	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	173	TSP N-terminal.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						GGGGAGAGGCCGGGTGACTCG	0.542000													47	80					0	0	1	0	0
TMEM110-MUSTN1	100526772	broad.mit.edu	37	3	52867661	52867661	+	Silent	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr3:52867661G>A	ENST00000504329.1	-	9	1095	c.984C>T	c.(982-984)tcC>tcT	p.S328S	MUSTN1_ENST00000486659.1_Silent_p.S43S|MUSTN1_ENST00000446157.2_Silent_p.S38S	NM_001198974.2	NP_001185903.2																					GGTAGGTCTTGGACTTGATTT	0.602000													10	5					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7720727	7720727	+	Silent	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr17:7720727C>T	ENST00000572933.1	+	65	11474	c.10014C>T	c.(10012-10014)atC>atT	p.I3338I	DNAH2_ENST00000389173.2_Silent_p.I3338I			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3338					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AAATCTGGATCGGGAAGGTGA	0.577000													39	50					0	0	1	0	0
NID2	22795	broad.mit.edu	37	14	52472502	52472502	+	Missense_Mutation	SNP	C	C	T	rs149021065		TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr14:52472502C>T	ENST00000216286.5	-	21	4069	c.4070G>A	c.(4069-4071)cGa>cAa	p.R1357Q	NID2_ENST00000541773.1_Missense_Mutation_p.R1256Q	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	1357						basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					GAGGTGAGATCGTTGTTCTGG	0.438000													42	56					0	0	1	0	0
NHLH1	4807	broad.mit.edu	37	1	160340779	160340779	+	Silent	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:160340779C>T	ENST00000302101.5	+	2	704	c.258C>T	c.(256-258)atC>atT	p.I86I		NM_005598.3	NP_005589.1	Q02575	HEN1_HUMAN	nescient helix loop helix 1	86					cell differentiation|central nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	7	all_cancers(52;7.11e-19)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GAGAACGCATCCGCGTGGAAG	0.682000													15	15					0	0	1	0	0
APOL1	8542	broad.mit.edu	37	22	36661890	36661890	+	Silent	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr22:36661890G>A	ENST00000319136.4	+	7	1323	c.1056G>A	c.(1054-1056)acG>acA	p.T352T	APOL1_ENST00000397279.4_Silent_p.T336T|APOL1_ENST00000426053.1_Silent_p.T318T|APOL1_ENST00000422706.1_Silent_p.T336T|APOL1_ENST00000397278.3_Silent_p.T336T|APOL1_ENST00000347595.7_Silent_p.T215T	NM_145343.2	NP_663318.1	O14791	APOL1_HUMAN	apolipoprotein L, 1	336					cholesterol metabolic process|cytolysis|innate immune response|killing of cells of other organism|lipid transport|lipoprotein metabolic process	high-density lipoprotein particle|very-low-density lipoprotein particle	chloride channel activity|lipid binding|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	14						TCAAGCTCACGGATGTGGCCC	0.532000													19	27					0	0	1	0	0
POTEF	728378	broad.mit.edu	37	2	130877866	130877866	+	Missense_Mutation	SNP	T	T	C			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr2:130877866T>C	ENST00000357462.5	-	1	316	c.223A>G	c.(223-225)Agt>Ggt	p.S75G	POTEF_ENST00000360967.5_Missense_Mutation_p.S75G|POTEF_ENST00000361163.4_Missense_Mutation_p.S75G|POTEF_ENST00000409914.2_Missense_Mutation_p.S75G			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	75						cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						CTCTTGCCACTCCCCCTGCAG	0.592000													5	237					0	0	1	0	0
PDLIM2	64236	broad.mit.edu	37	8	22449084	22449084	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr8:22449084C>T	ENST00000265810.4	+	8	899	c.784C>T	c.(784-786)Ccc>Tcc	p.P262S	PDLIM2_ENST00000397760.4_Missense_Mutation_p.P262S|PDLIM2_ENST00000409417.1_Missense_Mutation_p.P262S|PDLIM2_ENST00000339162.7_Intron|AC037459.4_ENST00000430850.2_Missense_Mutation_p.P56S|PDLIM2_ENST00000397761.2_Missense_Mutation_p.P262S|PDLIM2_ENST00000448520.1_3'UTR|PDLIM2_ENST00000409141.1_Intron|PDLIM2_ENST00000308354.7_Missense_Mutation_p.P512S	NM_176871.3	NP_789847.1	Q96JY6	PDLI2_HUMAN	PDZ and LIM domain 2 (mystique)	262						actin cytoskeleton|cell surface|cytoplasm|focal adhesion|nucleus	zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	9		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00579)|Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0626)		AGCCTTCTTGCCCAGCTCACT	0.642000													25	14					0	0	1	0	0
EPHA10	284656	broad.mit.edu	37	1	38227753	38227753	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:38227753C>T	ENST00000373048.4	-	3	173	c.174G>A	c.(172-174)tgG>tgA	p.W58*	EPHA10_ENST00000427468.2_Nonsense_Mutation_p.W58*|EPHA10_ENST00000319637.6_Nonsense_Mutation_p.W58*	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	58						extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TGATCTCCTCCCACTGGGGAC	0.592000													24	28					0	0	1	0	0
HIST1H4G	8369	broad.mit.edu	37	6	26247170	26247170	+	Silent	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr6:26247170C>T	ENST00000244537.4	-	1	89	c.36G>A	c.(34-36)ggG>ggA	p.G12G		NM_003547.2	NP_003538.1	Q99525	H4G_HUMAN	histone cluster 1, H4g	12					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				CACCGCCTTTCCCAAGGCCTT	0.507000													13	21					0	0	1	0	0
HERC2P3	283755	broad.mit.edu	37	15	20649568	20649568	+	RNA	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr15:20649568C>T	ENST00000428453.1	-	0	2630																				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						TTCCTTCTTTCCCCATCCTGT	0.597000													48	151					0	0	1	0	0
OR2T1	26696	broad.mit.edu	37	1	248570095	248570095	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:248570095C>T	ENST00000366474.1	+	1	800	c.800C>T	c.(799-801)tCc>tTc	p.S267F		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GTCCTTGCTTCCTATGCCCGA	0.507000													53	42					0	0	1	0	0
TAS2R1	50834	broad.mit.edu	37	5	9629923	9629923	+	Missense_Mutation	SNP	T	T	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr5:9629923T>A	ENST00000382492.2	-	1	540	c.222A>T	c.(220-222)gaA>gaT	p.E74D	CTD-2001E22.1_ENST00000504182.2_RNA	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN	taste receptor, type 2, member 1	74					chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						ACATGATGAATTCTATGAAGA	0.393000													11	12					0	0	1	0	0
POU5F2	134187	broad.mit.edu	37	5	93077030	93077030	+	Silent	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr5:93077030C>T	ENST00000510627.4	-	1	313	c.240G>A	c.(238-240)agG>agA	p.R80R	FAM172A_ENST00000395965.3_Intron|FAM172A_ENST00000505869.1_Intron|FAM172A_ENST00000509739.1_Intron|FAM172A_ENST00000509163.1_Intron	NM_153216.1	NP_694948.1	Q8N7G0	PO5F2_HUMAN	POU domain class 5, transcription factor 2	80						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity						all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19)		CAAGACGGGGCCTGCAGGGTG	0.682000													10	7					0	0	1	0	0
EFCAB12	90288	broad.mit.edu	37	3	129130159	129130159	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr3:129130159G>A	ENST00000505956.1	-	5	1039	c.877C>T	c.(877-879)Ccg>Tcg	p.P293S	EFCAB12_ENST00000326085.3_Missense_Mutation_p.P293S	NM_207307.1	NP_997190.1			EF-hand calcium binding domain 12																		TTCTTGAGCGGACCCTTCAGG	0.572000													35	56					0	0	1	0	0
VSTM2A	222008	broad.mit.edu	37	7	54617709	54617709	+	Silent	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr7:54617709C>T	ENST00000302287.3	+	4	886	c.480C>T	c.(478-480)ttC>ttT	p.F160F	VSTM2A_ENST00000498834.1_3'UTR|VSTM2A_ENST00000402026.2_Silent_p.F159F|VSTM2A_ENST00000402613.3_Silent_p.F160F|VSTM2A_ENST00000404951.1_Silent_p.F160F|VSTM2A_ENST00000407838.3_Silent_p.F160F			Q8TAG5	VTM2A_HUMAN	V-set and transmembrane domain containing 2A	160						extracellular region				endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16			STAD - Stomach adenocarcinoma(5;0.0525)			TGCAGGCCTTCGAAGCCTCGC	0.592000													6	10					0	0	1	0	0
IGHV4-61	28391	broad.mit.edu	37	14	107095315	107095315	+	RNA	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr14:107095315C>T	ENST00000390630.2	-	0	265																											GGATCCAGCTCCAGTAGTAAC	0.592000													43	3					0	0	1	0	0
GGN	199720	broad.mit.edu	37	19	38876802	38876802	+	Missense_Mutation	SNP	T	T	C			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr19:38876802T>C	ENST00000334928.6	-	3	1232	c.1100A>G	c.(1099-1101)aAc>aGc	p.N367S	AC005789.9_ENST00000585411.1_RNA|GGN_ENST00000591809.1_Intron	NM_152657.3	NP_689870.3	Q86UU5	GGN_HUMAN	gametogenetin	367	Interaction with GGNBP1 (By similarity).|Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis					breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GCCAGCCCCGTTGAAGCGGAA	0.697000													4	4					0	0	1	0	0
GNB1L	54584	broad.mit.edu	37	22	19776423	19776423	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr22:19776423G>A	ENST00000329517.6	-	8	1029	c.793C>T	c.(793-795)Cgc>Tgc	p.R265C	GNB1L_ENST00000405009.1_Intron|GNB1L_ENST00000460402.1_5'UTR|GNB1L_ENST00000403325.1_Missense_Mutation_p.R265C	NM_053004.2	NP_443730.1	Q9BYB4	GNB1L_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1-like	265					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	internal side of plasma membrane|intracellular				breast(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	12	Colorectal(54;0.0993)					AGGATCTTGCGATCTGGCCGG	0.642000													34	41					0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75055435	75055435	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:75055435C>T	ENST00000326665.5	-	12	2274	c.2056G>A	c.(2056-2058)Gag>Aag	p.E686K	C1orf173_ENST00000420661.2_Missense_Mutation_p.E489K|RP4-612J11.1_ENST00000416017.1_RNA	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	686	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CCGGACTTCTCAGATAAACCC	0.443000													28	53					0	0	1	0	0
ZNF34	80778	broad.mit.edu	37	8	145999766	145999766	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr8:145999766G>A	ENST00000429371.2	-	6	658	c.505C>T	c.(505-507)Cct>Tct	p.P169S	ZNF34_ENST00000343459.4_Missense_Mutation_p.P190S	NM_030580.3	NP_085057.3	Q8IZ26	ZNF34_HUMAN	zinc finger protein 34	190					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.221)	OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;5.18e-38)|all cancers(56;4.41e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.0179)		CTCTGATCAGGAACAGGTCTT	0.478000													5	14					0	0	1	0	0
ALPK3	57538	broad.mit.edu	37	15	85411669	85411669	+	Silent	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr15:85411669G>A	ENST00000258888.5	+	14	5873	c.5706G>A	c.(5704-5706)aaG>aaA	p.K1902K		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1902					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			AGGGCTCCAAGGCCCAGGGCA	0.617000													15	18					0	0	1	0	0
SEC11C	90701	broad.mit.edu	37	18	56819810	56819810	+	Silent	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr18:56819810C>T	ENST00000587834.1	+	3	712	c.240C>T	c.(238-240)ttC>ttT	p.F80F	SEC11C_ENST00000588875.1_Silent_p.F80F	NM_033280.2	NP_150596.1	Q9BY50	SC11C_HUMAN	SEC11 homolog C (S. cerevisiae)	80					energy reserve metabolic process|regulation of insulin secretion|signal peptide processing	endoplasmic reticulum membrane|integral to membrane|microsome	serine-type peptidase activity			endometrium(1)|large_intestine(4)|liver(2)|lung(2)	9		Colorectal(73;0.175)				ACCTCCTGTTCCTCACAAATT	0.448000													164	31					0	0	1	0	0
HERC1	8925	broad.mit.edu	37	15	64005849	64005849	+	Missense_Mutation	SNP	A	A	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr15:64005849A>T	ENST00000443617.2	-	23	4253	c.4166T>A	c.(4165-4167)tTc>tAc	p.F1389Y	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	1389					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GGCTGAGAGGAAACACTGAAA	0.448000													7	10					0	0	1	0	0
THEMIS2	9473	broad.mit.edu	37	1	28206306	28206306	+	Silent	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:28206306C>T	ENST00000373921.3	+	3	391	c.387C>T	c.(385-387)ctC>ctT	p.L129L	THEMIS2_ENST00000328928.7_Silent_p.L129L|THEMIS2_ENST00000373925.1_Silent_p.L129L|THEMIS2_ENST00000373927.3_Intron	NM_001105556.1	NP_001099026.1			thymocyte selection associated family member 2																		AGGACCAGCTCCTCATGCTTG	0.612000													45	34					0	0	1	0	0
MRO	83876	broad.mit.edu	37	18	48327755	48327755	+	Silent	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr18:48327755C>T	ENST00000428869.2	-	7	807	c.549G>A	c.(547-549)ctG>ctA	p.L183L	MRO_ENST00000398439.3_Silent_p.L183L|MRO_ENST00000256425.2_Silent_p.L183L|MRO_ENST00000588444.1_Intron|MRO_ENST00000431965.2_Intron|MRO_ENST00000436348.2_Silent_p.L197L|MRO_ENST00000587291.1_5'UTR			Q9BYG7	MSTRO_HUMAN	maestro	183						nucleolus	binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)|skin(2)	10		Colorectal(6;0.0596)		Colorectal(21;0.082)		GTAAATGGATCAGGAGGGAAT	0.468000													140	17					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76557901	76557901	+	Silent	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr17:76557901C>T	ENST00000389840.5	-	12	1855	c.1731G>A	c.(1729-1731)ctG>ctA	p.L577L	DNAH17_ENST00000585328.1_Silent_p.L577L					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TTTTGTGGATCAGGGGGATGT	0.562000													5	19					0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131910920	131910920	+	Splice_Site	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr7:131910920G>A	ENST00000359827.3	-	8	2944	c.1982_splice	c.e8+1	p.S661_splice	PLXNA4_ENST00000321063.4_Splice_Site_p.S661_splice			Q9HCM2	PLXA4_HUMAN	plexin A4	661	PSI 2.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GGCCACTTACGAATTGTGGAC	0.512000													67	91					0	0	1	0	0
OR6C2	341416	broad.mit.edu	37	12	55846490	55846490	+	Missense_Mutation	SNP	G	G	A	rs140332483		TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr12:55846490G>A	ENST00000322678.1	+	1	493	c.493G>A	c.(493-495)Gaa>Aaa	p.E165K	RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA	NM_054105.1	NP_473446.1	Q9NZP2	OR6C2_HUMAN	olfactory receptor, family 6, subfamily C, member 2	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E165K(1)		kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						CCTCCAGCTCGAATTCTGTGA	0.448000													59	84					0	0	1	0	0
PAGE2	203569	broad.mit.edu	37	X	55116508	55116508	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chrX:55116508G>A	ENST00000374968.4	+	2	159	c.55G>A	c.(55-57)Gag>Aag	p.E19K	PAGE2_ENST00000374965.1_Missense_Mutation_p.E19K	NM_207339.2	NP_997222.1			P antigen family, member 2 (prostate associated)											endometrium(1)|large_intestine(2)|lung(1)|ovary(2)	6						AAATGACCAAGAGTCTTCCCA	0.338000													29	2					0	0	1	0	0
OR10H3	26532	broad.mit.edu	37	19	15852266	15852266	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr19:15852266C>T	ENST00000305892.1	+	1	64	c.64C>T	c.(64-66)Cag>Tag	p.Q22*		NM_013938.1	NP_039226.1	O60404	O10H3_HUMAN	olfactory receptor, family 10, subfamily H, member 3	22					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						AGCCTTCCCCCAGCAGCTCCT	0.468000													100	134					0	0	1	0	0
CCDC93	54520	broad.mit.edu	37	2	118688722	118688722	+	Missense_Mutation	SNP	T	T	C			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr2:118688722T>C	ENST00000376300.2	-	23	1870	c.1733A>G	c.(1732-1734)gAa>gGa	p.E578G	CCDC93_ENST00000319432.5_Missense_Mutation_p.E577G|HTR5BP_ENST00000434708.1_RNA	NM_019044.4	NP_061917.3	Q567U6	CCD93_HUMAN	coiled-coil domain containing 93	578										breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						CTTTTTCTTTTCCATCTGTTG	0.408000													37	52					0	0	1	0	0
PCNX	22990	broad.mit.edu	37	14	71524350	71524350	+	Silent	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr14:71524350C>T	ENST00000304743.2	+	26	5207	c.4761C>T	c.(4759-4761)atC>atT	p.I1587I	PCNX_ENST00000238570.5_Intron|PCNX_ENST00000439984.3_Silent_p.I1476I	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1587						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		ACTGTTTCATCCTTGCCTCTG	0.453000													213	248					0	0	1	0	0
ZIC4	84107	broad.mit.edu	37	3	147114101	147114101	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr3:147114101C>T	ENST00000383075.3	-	3	738	c.226G>A	c.(226-228)Gag>Aag	p.E76K	ZIC4_ENST00000425731.3_Missense_Mutation_p.E114K|ZIC4_ENST00000484399.1_Missense_Mutation_p.E76K|ZIC4_ENST00000525172.2_Missense_Mutation_p.E126K|ZIC4_ENST00000491672.1_Intron|ZIC4_ENST00000473123.1_Missense_Mutation_p.E76K	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	76						nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						GGGAAGGGCTCCGGCCGCGCG	0.716000													3	6					0	0	1	0	0
HIF3A	64344	broad.mit.edu	37	19	46815879	46815879	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr19:46815879G>A	ENST00000339613.2	+	8	1081	c.826G>A	c.(826-828)Gag>Aag	p.E276K	HIF3A_ENST00000300862.3_Missense_Mutation_p.E330K|HIF3A_ENST00000244303.6_Missense_Mutation_p.E263K|HIF3A_ENST00000472815.1_Missense_Mutation_p.E263K|HIF3A_ENST00000377670.4_Missense_Mutation_p.E332K|HIF3A_ENST00000420102.2_Missense_Mutation_p.E281K|HIF3A_ENST00000600383.1_Missense_Mutation_p.E263K			Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	332	PAS 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		CCCCCAGTCGGAGAGTATCGT	0.607000													42	65					0	0	1	0	0
NELL1	4745	broad.mit.edu	37	11	20948884	20948884	+	Missense_Mutation	SNP	T	T	G			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr11:20948884T>G	ENST00000298925.5	+	9	1027	c.874T>G	c.(874-876)Ttg>Gtg	p.L292V	NELL1_ENST00000325319.5_Missense_Mutation_p.L207V|NELL1_ENST00000357134.5_Missense_Mutation_p.L264V|NELL1_ENST00000532434.1_Missense_Mutation_p.L264V			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	264	VWFC 1.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						ACTTAGTCAATTGGAAAACTG	0.393000													27	34					0	0	1	0	0
LYST	1130	broad.mit.edu	37	1	235866215	235866215	+	Silent	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:235866215G>A	ENST00000389794.3	-	45	10380	c.10206C>T	c.(10204-10206)acC>acT	p.T3402T	LYST_ENST00000389793.2_Silent_p.T3402T|LYST_ENST00000473037.1_5'UTR			Q99698	LYST_HUMAN	lysosomal trafficking regulator	3402	BEACH.				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TTTTTATCATGGTTTCTAGCG	0.478000													135	121					0	0	1	0	0
AMER3	205147	broad.mit.edu	37	2	131520881	131520881	+	Silent	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr2:131520881C>T	ENST00000423981.1	+	2	1346	c.1236C>T	c.(1234-1236)ttC>ttT	p.F412F	AMER3_ENST00000321420.4_Silent_p.F412F	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2			APC membrane recruitment protein 3																		CCGCCACCTTCCCACGGGACA	0.617000													23	22					0	0	1	0	0
CSRP2BP	57325	broad.mit.edu	37	20	18165328	18165328	+	Silent	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr20:18165328C>T	ENST00000278816.2	+	10	2717	c.2067C>T	c.(2065-2067)ttC>ttT	p.F689F	CSRP2BP_ENST00000377681.2_Silent_p.F688F|CSRP2BP_ENST00000489634.2_Silent_p.F561F|CSRP2BP_ENST00000435364.2_Silent_p.F689F			Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	689	N-acetyltransferase.				histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						CCTTTGGCTTCATGGTTCCTG	0.398000													35	34					0	0	1	0	0
MYPN	84665	broad.mit.edu	37	10	69948769	69948769	+	Silent	SNP	C	C	T	rs151242284		TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr10:69948769C>T	ENST00000358913.5	+	13	3299	c.2811C>T	c.(2809-2811)atC>atT	p.I937I	MYPN_ENST00000354393.2_Silent_p.I662I|MYPN_ENST00000540630.1_Silent_p.I937I	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	937						nucleus|sarcomere	actin binding	p.I937I(1)		breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						ATGATGAGATCCCCACGGGCA	0.438000													31	1					0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98547765	98547765	+	Silent	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr7:98547765C>T	ENST00000359863.4	+	37	5402	c.5193C>T	c.(5191-5193)ttC>ttT	p.F1731F	TRRAP_ENST00000446306.3_Silent_p.F1712F|TRRAP_ENST00000355540.3_Silent_p.F1713F	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1731					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			ACATGACATTCTTAAAAGAGT	0.438000													27	39					0	0	1	0	0
ATR	545	broad.mit.edu	37	3	142215958	142215958	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr3:142215958C>T	ENST00000350721.4	-	33	5756	c.5635G>A	c.(5635-5637)Gat>Aat	p.D1879N	ATR_ENST00000383101.3_Missense_Mutation_p.D1815N	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	1879	FAT.				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TTTAGAGAATCTTCTTGAGAA	0.453000								Other conserved DNA damage response genes					25	43					0	0	1	0	0
CRNN	49860	broad.mit.edu	37	1	152383335	152383335	+	Silent	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:152383335G>A	ENST00000271835.3	-	3	285	c.223C>T	c.(223-225)Ctg>Ttg	p.L75L	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	75	EF-hand.				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACTAAGACCAGGAATTCCTTG	0.537000													62	41					0	0	1	0	0
FBXL4	26235	broad.mit.edu	37	6	99365508	99365508	+	Silent	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr6:99365508G>A	ENST00000369244.2	-	5	1028	c.600C>T	c.(598-600)ttC>ttT	p.F200F	FBXL4_ENST00000229971.1_Silent_p.F200F			Q9UKA2	FBXL4_HUMAN	F-box and leucine-rich repeat protein 4	200					ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	18		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0413)		GATTTGTGGGGAAATTTATCT	0.413000													28	69					0	0	1	0	0
VWA3B	200403	broad.mit.edu	37	2	98834468	98834468	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr2:98834468C>T	ENST00000477737.1	+	14	2200	c.1996C>T	c.(1996-1998)Ccc>Tcc	p.P666S		NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	666	VWFA.									NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TTGCAAGGATCCCACTCCCCC	0.453000													20	35					0	0	1	0	0
HECA	51696	broad.mit.edu	37	6	139487440	139487440	+	Silent	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr6:139487440C>T	ENST00000367658.2	+	2	576	c.291C>T	c.(289-291)ccC>ccT	p.P97P	RP1-225E12.3_ENST00000585874.1_RNA|RP1-225E12.2_ENST00000586266.1_RNA|RP1-225E12.2_ENST00000589192.1_RNA|RP1-225E12.2_ENST00000415194.2_RNA|RP1-225E12.2_ENST00000588638.1_RNA|RP1-225E12.2_ENST00000588529.1_RNA|RP1-225E12.2_ENST00000587577.1_RNA|RP1-225E12.2_ENST00000590679.1_RNA|RP1-225E12.2_ENST00000586229.1_RNA	NM_016217.2	NP_057301.1	Q9UBI9	HDC_HUMAN	headcase homolog (Drosophila)	97					respiratory tube development					endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		GTGCCACTCCCCTGATCTGCA	0.532000													87	95					0	0	1	0	0
CAMK4	814	broad.mit.edu	37	5	110712584	110712584	+	Silent	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr5:110712584C>T	ENST00000282356.4	+	4	728	c.330C>T	c.(328-330)acC>acT	p.T110T	CAMK4_ENST00000512453.1_Silent_p.T110T	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	110	Protein kinase.				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		TATTTGAAACCCCTACAGAAA	0.343000													29	75					0	0	1	0	0
GPR78	27201	broad.mit.edu	37	4	8584355	8584355	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr4:8584355C>T	ENST00000382487.4	+	2	1183	c.766C>T	c.(766-768)Ccg>Tcg	p.P256S	GPR78_ENST00000509216.1_3'UTR	NM_080819.4	NP_543009.2	Q96P69	GPR78_HUMAN	G protein-coupled receptor 78	256					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						CTGCTTTGCCCCGTATGTCAT	0.622000													29	63					0	0	1	0	0
LRFN2	57497	broad.mit.edu	37	6	40359748	40359748	+	Silent	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr6:40359748C>T	ENST00000338305.6	-	3	2846	c.2304G>A	c.(2302-2304)gaG>gaA	p.E768E		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	768						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCAGGTCACTCTCCTCAAAGG	0.637000													37	50					0	0	1	0	0
SETD7	80854	broad.mit.edu	37	4	140432985	140432985	+	Silent	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr4:140432985G>A	ENST00000274031.3	-	8	1569	c.933C>T	c.(931-933)ccC>ccT	p.P311P	SETD7_ENST00000506866.2_Intron	NM_030648.2	NP_085151.1	Q8WTS6	SETD7_HUMAN	SET domain containing (lysine methyltransferase) 7	311	SET.				peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	histone-lysine N-methyltransferase activity|p53 binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	8	all_hematologic(180;0.156)					GCCCAAAACGGGGGTGGACAA	0.577000													54	56					0	0	1	0	0
EVC2	132884	broad.mit.edu	37	4	5578067	5578067	+	Silent	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr4:5578067G>A	ENST00000310917.2	-	18	3663	c.2932C>T	c.(2932-2934)Ctg>Ttg	p.L978L	EVC2_ENST00000344938.1_Silent_p.L1058L|EVC2_ENST00000344408.5_Silent_p.L1058L	NM_001166136.1	NP_001159608.1	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	1058						integral to membrane				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						GGTTCGTTCAGAATCCCGGGC	0.622000													23	31					0	0	1	0	0
GJC1	10052	broad.mit.edu	37	17	42882577	42882577	+	Silent	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr17:42882577G>A	ENST00000426548.1	-	3	878	c.609C>T	c.(607-609)gtC>gtT	p.V203V	GJC1_ENST00000590758.1_Silent_p.V203V|GJC1_ENST00000592524.1_Silent_p.V203V|GJC1_ENST00000330514.4_Silent_p.V203V	NM_001080383.1|NM_005497.3	NP_001073852.1|NP_005488.2	P36383	CXG1_HUMAN	gap junction protein, gamma 1, 45kDa	203					cellular membrane organization|gap junction assembly|muscle contraction|synaptic transmission|transport	connexon complex|integral to membrane				NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1)	19		Prostate(33;0.0959)				AAAACGGGTGGACTTGGAAGC	0.438000													56	59					0	0	1	0	0
GLI3	2737	broad.mit.edu	37	7	42005498	42005498	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr7:42005498C>T	ENST00000395925.3	-	15	3257	c.3173G>A	c.(3172-3174)cGa>cAa	p.R1058Q	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1058					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						GTGGAAGTTTCGGGACTGGCC	0.632000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				27	31					0	0	1	0	0
TKTL2	84076	broad.mit.edu	37	4	164394112	164394112	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr4:164394112C>T	ENST00000280605.3	-	1	935	c.775G>A	c.(775-777)Gaa>Aaa	p.E259K		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	259						cytoplasm	metal ion binding|transketolase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TGCCAATTTTCTGCATCCTCA	0.413000													59	75					0	0	1	0	0
SCAF1	58506	broad.mit.edu	37	19	50154274	50154274	+	Missense_Mutation	SNP	C	C	G			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr19:50154274C>G	ENST00000360565.3	+	7	752	c.628C>G	c.(628-630)Cca>Gca	p.P210A		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	210	Pro-rich.				mRNA processing|RNA splicing	nucleus	RNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		ttcccctcccccacccccACC	0.706000													2	2					0	0	1	0	0
KRT39	390792	broad.mit.edu	37	17	39118534	39118534	+	Silent	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr17:39118534C>T	ENST00000355612.2	-	5	911	c.876G>A	c.(874-876)gaG>gaA	p.E292E	AC004231.2_ENST00000418393.1_RNA	NM_213656.3	NP_998821.3	Q6A163	K1C39_HUMAN	keratin 39	292	Coil 2.|Rod.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17		Breast(137;0.00043)|Ovarian(249;0.15)				GATTCAGCTCCTCTATCTGAA	0.443000													48	100					0	0	1	0	0
IL17RD	54756	broad.mit.edu	37	3	57143616	57143616	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr3:57143616G>A	ENST00000296318.7	-	5	587	c.499C>T	c.(499-501)Cct>Tct	p.P167S	IL17RD_ENST00000463523.1_Missense_Mutation_p.P23S|IL17RD_ENST00000427856.2_Missense_Mutation_p.P143S|IL17RD_ENST00000320057.5_Missense_Mutation_p.P23S	NM_017563.3	NP_060033.3	Q8NFM7	I17RD_HUMAN	interleukin 17 receptor D	167						Golgi membrane|integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)	16				KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)		TTAATGGAAGGAAAAGGGACA	0.408000													25	28					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89949315	89949315	+	Silent	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr5:89949315C>T	ENST00000405460.2	+	20	4020	c.3924C>T	c.(3922-3924)ttC>ttT	p.F1308F		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1308					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTGGAATTTTCCCCACCACCG	0.483000													14	24					0	0	1	0	0
SOST	50964	broad.mit.edu	37	17	41832725	41832725	+	Silent	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr17:41832725C>T	ENST00000301691.2	-	2	673	c.627G>A	c.(625-627)ctG>ctA	p.L209L		NM_025237.2	NP_079513.1	Q9BQB4	SOST_HUMAN	sclerostin	209					negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of ossification|negative regulation of protein complex assembly|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway		heparin binding|protein binding			large_intestine(2)|lung(3)|prostate(1)	6		Breast(137;0.00725)		UCEC - Uterine corpus endometrioid carcinoma (308;0.177)|BRCA - Breast invasive adenocarcinoma(366;0.0741)		AGGCGTTCTCCAGCTCGGCCT	0.726000													15	19					0	0	1	0	0
ZNF676	163223	broad.mit.edu	37	19	22364058	22364058	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr19:22364058G>A	ENST00000397121.2	-	3	778	c.461C>T	c.(460-462)tCa>tTa	p.S154L		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	154					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				AGATAGGTGTGAAAGCATGCA	0.323000													20	26					0	0	1	0	0
MRPL54	116541	broad.mit.edu	37	19	3762731	3762731	+	Silent	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr19:3762731G>A	ENST00000330133.4	+	1	70	c.33G>A	c.(31-33)cgG>cgA	p.R11R		NM_172251.2	NP_758455.1	Q6P161	RM54_HUMAN	mitochondrial ribosomal protein L54	11						mitochondrion|ribosome				breast(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGCTACCCGGACGTGGGCCG	0.622000													31	37					0	0	1	0	0
FGD6	55785	broad.mit.edu	37	12	95605014	95605014	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr12:95605014G>A	ENST00000343958.4	-	2	269	c.46C>T	c.(46-48)Ccc>Tcc	p.P16S	FGD6_ENST00000549499.1_Missense_Mutation_p.P16S|FGD6_ENST00000546711.1_Missense_Mutation_p.P16S	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	16					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						ACAAACTTGGGCTTGGGGGCC	0.388000													33	30					0	0	1	0	0
SPSB1	80176	broad.mit.edu	37	1	9416185	9416185	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:9416185C>T	ENST00000328089.6	+	2	576	c.235C>T	c.(235-237)Ccg>Tcg	p.P79S	SPSB1_ENST00000377399.2_Missense_Mutation_p.P79S|SPSB1_ENST00000357898.3_Missense_Mutation_p.P79S	NM_025106.3	NP_079382.2	Q96BD6	SPSB1_HUMAN	splA/ryanodine receptor domain and SOCS box containing 1	79	B30.2/SPRY.				intracellular signal transduction	cytoplasm				breast(1)|endometrium(3)|kidney(2)|lung(5)|prostate(2)	13	all_lung(157;0.194)	all_epithelial(116;4.38e-15)|all_lung(118;0.000156)|Lung NSC(185;0.000446)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.72e-07)|COAD - Colon adenocarcinoma(227;9.12e-05)|Kidney(185;0.000296)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00193)|BRCA - Breast invasive adenocarcinoma(304;0.00202)|READ - Rectum adenocarcinoma(331;0.0419)		TCACCGGCATCCGGTGGCCCA	0.572000													133	141					0	0	1	0	0
INSR	3643	broad.mit.edu	37	19	7174618	7174618	+	Silent	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr19:7174618G>A	ENST00000341500.5	-	4	1138	c.1099C>T	c.(1099-1101)Ctg>Ttg	p.L367L	INSR_ENST00000302850.5_Silent_p.L367L	NM_001079817.1	NP_001073285.1	P06213	INSR_HUMAN	insulin receptor	367					activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TTGATGATCAGACTCCCGTTG	0.597000													53	63					0	0	1	0	0
OR3A4P	390756	broad.mit.edu	37	17	3213767	3213767	+	RNA	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr17:3213767G>A	ENST00000573491.1	-	0	359				OR3A4P_ENST00000323164.4_RNA																							CATCCTTATGGAAACCAAACT	0.537000													24	47					0	0	1	0	0
MYEOV	26579	broad.mit.edu	37	11	69063249	69063249	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr11:69063249G>A	ENST00000535407.1	+	2	801	c.158G>A	c.(157-159)gGa>gAa	p.G53E	MYEOV_ENST00000441339.2_Missense_Mutation_p.G111E|MYEOV_ENST00000308946.3_Missense_Mutation_p.G111E			Q96EZ4	MYEOV_HUMAN	myeloma overexpressed	111										endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|urinary_tract(1)	24	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)	Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153)		AGAAACAAGGGAGACAAGGGT	0.632000													40	42					0	0	1	0	0
BBS7	55212	broad.mit.edu	37	4	122780197	122780197	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr4:122780197G>A	ENST00000264499.4	-	5	661	c.478C>T	c.(478-480)Cgt>Tgt	p.R160C	BBS7_ENST00000506636.1_Missense_Mutation_p.R160C	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7	160					cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						GGTGTGATACGAGATAATCTT	0.348000									Bardet-Biedl syndrome				104	116					0	0	1	0	0
NID1	4811	broad.mit.edu	37	1	236212073	236212073	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:236212073G>A	ENST00000264187.6	-	2	524	c.442C>T	c.(442-444)Cag>Tag	p.Q148*	NID1_ENST00000366595.3_Nonsense_Mutation_p.Q148*	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	148	NIDO.				cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	CTACTAGGCTGGAAAGAGATC	0.587000													19	32					0	0	1	0	0
OR52R1	119695	broad.mit.edu	37	11	4825555	4825555	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr11:4825555C>T	ENST00000380382.1	-	1	292	c.293G>A	c.(292-294)gGa>gAa	p.G98E	MMP26_ENST00000380390.1_Intron|OR52R1_ENST00000356069.2_Missense_Mutation_p.G19E|MMP26_ENST00000477339.1_Intron			Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	19					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCCTGGGATTCCAAGCAGGAT	0.502000													28	23					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453137	140453137	+	Missense_Mutation	SNP	C	C	T	rs121913227		TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr7:140453137C>T	ENST00000288602.6	-	15	1858	c.1798G>A	c.(1798-1800)Gtg>Atg	p.V600M		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600K(252)|p.V600R(44)|p.V600M(21)|p.V600L(9)|p.T599_R603>I(2)|p.T599_V600>IAL(2)|p.V600Q(2)|p.T599_V600insT(2)|p.T599_V600insTT(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	CGAGATTTCACTGTAGCTAGA	0.363000	V600M(IGR1_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				26	36					0	0	1	0	0
ATRNL1	26033	broad.mit.edu	37	10	117278814	117278814	+	Silent	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr10:117278814G>A	ENST00000355044.3	+	25	3822	c.3696G>A	c.(3694-3696)caG>caA	p.Q1232Q	ATRNL1_ENST00000303745.7_Silent_p.Q25Q|ATRNL1_ENST00000423111.2_Silent_p.Q283Q	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1232						integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		ACCTTGTGCAGTTTTTTGTCA	0.328000													7	4					0	0	1	0	0
OR4C46	119749	broad.mit.edu	37	11	51515583	51515583	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr11:51515583G>A	ENST00000328188.1	+	1	302	c.302G>A	c.(301-303)gGa>gAa	p.G101E		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	101					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						CAAGTCTTTGGAGAACATTTC	0.463000													40	69					0	0	1	0	0
NWD1	284434	broad.mit.edu	37	19	16875922	16875922	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr19:16875922C>T	ENST00000524140.2	+	10	2747	c.2329C>T	c.(2329-2331)Cct>Tct	p.P777S	NWD1_ENST00000523826.1_Missense_Mutation_p.P571S|NWD1_ENST00000549814.1_Missense_Mutation_p.P777S|NWD1_ENST00000552788.1_Missense_Mutation_p.P777S|NWD1_ENST00000379808.3_Missense_Mutation_p.P777S|NWD1_ENST00000339803.6_Missense_Mutation_p.P642S	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	777							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CCTGTGTGCCCCTCACCTGGA	0.637000													25	41					0	0	1	0	0
OR2J2	26707	broad.mit.edu	37	6	29141776	29141776	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr6:29141776G>A	ENST00000377167.2	+	1	466	c.364G>A	c.(364-366)Gat>Aat	p.D122N		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						GATGTCATATGATCGTTATGT	0.463000													96	204					0	0	1	0	0
ABCA8	10351	broad.mit.edu	37	17	66925201	66925201	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr17:66925201C>T	ENST00000269080.2	-	8	1251	c.1114G>A	c.(1114-1116)Gga>Aga	p.G372R	ABCA8_ENST00000586539.1_Missense_Mutation_p.G372R|ABCA8_ENST00000430352.2_Missense_Mutation_p.G372R	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	372						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					TGGGCCATTCCAAGCATGAAG	0.458000													24	43					0	0	1	0	0
MORC1	27136	broad.mit.edu	37	3	108688571	108688571	+	Splice_Site	SNP	T	T	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr3:108688571T>A	ENST00000232603.5	-	26	2633		c.e26-2		MORC1_ENST00000483760.1_Splice_Site	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1						cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						CTGCTCCAGCTGTTTTCATAA	0.358000													31	29					0	0	1	0	0
ST7	7982	broad.mit.edu	37	7	116859158	116859158	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr7:116859158C>T	ENST00000265437.5	+	14	1640	c.1426C>T	c.(1426-1428)Ccc>Tcc	p.P476S	ST7_ENST00000393444.3_Missense_Mutation_p.P410S|ST7_ENST00000393451.3_Missense_Mutation_p.P453S|ST7_ENST00000432298.1_Missense_Mutation_p.P430S|ST7_ENST00000393449.1_Missense_Mutation_p.P471S|ST7_ENST00000393447.4_Missense_Mutation_p.P433S|ST7_ENST00000393443.1_Missense_Mutation_p.P398S|ST7_ENST00000422922.1_Missense_Mutation_p.P407S|ST7_ENST00000323984.3_Missense_Mutation_p.P476S|ST7_ENST00000393446.2_Intron	NM_021908.2	NP_068708.1	Q9NRC1	ST7_HUMAN	suppression of tumorigenicity 7	476						integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(1)	21	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		GATCCCTTATCCCTTGGAAAA	0.443000													61	91					0	0	1	0	0
ADD2	119	broad.mit.edu	37	2	70933498	70933498	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr2:70933498G>A	ENST00000264436.3	-	3	487	c.43C>T	c.(43-45)Ccg>Tcg	p.P15S	ADD2_ENST00000430656.1_Missense_Mutation_p.P31S|ADD2_ENST00000413157.2_Missense_Mutation_p.P15S|ADD2_ENST00000355733.3_Missense_Mutation_p.P15S|ADD2_ENST00000407644.2_Missense_Mutation_p.P15S	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	15					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						TGCCCCTGCGGGGGCGGCGGC	0.632000													31	53					0	0	1	0	0
KPTN	11133	broad.mit.edu	37	19	47983154	47983154	+	Silent	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr19:47983154G>A	ENST00000338134.3	-	8	860	c.753C>T	c.(751-753)tcC>tcT	p.S251S	KPTN_ENST00000536339.1_Silent_p.S11S	NM_007059.2	NP_008990.2	Q9Y664	KPTN_HUMAN	kaptin (actin binding protein)	251					actin filament organization|cellular component movement|sensory perception of sound	actin cytoskeleton|growth cone|microtubule organizing center|nucleus|perinuclear region of cytoplasm|stereocilium	actin binding			breast(1)|lung(3)|ovary(2)|pancreas(2)	8		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		OV - Ovarian serous cystadenocarcinoma(262;0.000428)|all cancers(93;0.000631)|Epithelial(262;0.0153)|GBM - Glioblastoma multiforme(486;0.0694)		CAATCACTCGGGAGATGGGAC	0.642000													9	21					0	0	1	0	0
PRPF40B	25766	broad.mit.edu	37	12	50025193	50025193	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr12:50025193C>T	ENST00000261897.1	+	2	561	c.10C>T	c.(10-12)Cca>Tca	p.P4S	PRPF40B_ENST00000548825.2_Missense_Mutation_p.P32S|PRPF40B_ENST00000380281.1_Missense_Mutation_p.P10S			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	10	Pro-rich.				mRNA processing|RNA splicing	nuclear speck				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						GATGCCCCCTCCAGGGATCCC	0.582000													93	113					0	0	1	0	0
TLR8	51311	broad.mit.edu	37	X	12938064	12938064	+	Missense_Mutation	SNP	T	T	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chrX:12938064T>A	ENST00000218032.6	+	2	992	c.905T>A	c.(904-906)aTt>aAt	p.I302N	TLR8_ENST00000311912.5_Missense_Mutation_p.I320N	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	302					cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						CTCAGGAAGATTAATGCTGCC	0.403000													39	2					0	0	1	0	0
MAGEA12	4111	broad.mit.edu	37	X	151899942	151899942	+	Silent	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chrX:151899942G>A	ENST00000393900.3	-	3	1212	c.859C>T	c.(859-861)Ctg>Ttg	p.L287L	MAGEA12_ENST00000393869.3_Silent_p.L287L|MAGEA12_ENST00000357916.4_Silent_p.L287L|CSAG4_ENST00000361201.4_RNA	NM_001166386.1	NP_001159858.1	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	287	MAGE.									breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					AAATGGTGCAGGACTTTCACA	0.542000													121	17					0	0	1	0	0
SERPINI2	5276	broad.mit.edu	37	3	167183010	167183010	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr3:167183010C>T	ENST00000476257.1	-	6	1148	c.850G>A	c.(850-852)Gaa>Aaa	p.E284K	SERPINI2_ENST00000264677.4_Missense_Mutation_p.E284K|SERPINI2_ENST00000461846.1_Missense_Mutation_p.E284K|SERPINI2_ENST00000471111.1_Missense_Mutation_p.E284K			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	284					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						AGGCTTATTTCTACTTCCTCT	0.378000													25	27					0	0	1	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5190165	5190165	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr5:5190165G>A	ENST00000274181.7	+	7	1267	c.1129G>A	c.(1129-1131)Ggg>Agg	p.G377R	ADAMTS16_ENST00000511368.1_Missense_Mutation_p.G377R	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	377	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GGGGAAAGATGGGACTCGTCA	0.517000													52	67					0	0	1	0	0
FNIP1	96459	broad.mit.edu	37	5	131014771	131014771	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr5:131014771G>A	ENST00000307968.7	-	11	1215	c.1216C>T	c.(1216-1218)Cgt>Tgt	p.R406C	FNIP1_ENST00000511848.1_Missense_Mutation_p.R434C|FNIP1_ENST00000307954.8_Missense_Mutation_p.R389C|FNIP1_ENST00000514667.1_Intron|FNIP1_ENST00000510461.1_Missense_Mutation_p.R434C	NM_001008738.2	NP_001008738.2			folliculin interacting protein 1									p.R434C(1)		NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		TTCATGAAACGATAGCAAAGG	0.348000													14	15					0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129419523	129419523	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr6:129419523C>T	ENST00000421865.2	+	4	651	c.602C>T	c.(601-603)tCa>tTa	p.S201L		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	201	Laminin N-terminal.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		ATCTGCACTTCATTTTACTCC	0.433000													44	39					0	0	1	0	0
CDK8	1024	broad.mit.edu	37	13	26923281	26923281	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr13:26923281G>A	ENST00000381527.3	+	3	780	c.277G>A	c.(277-279)Gtg>Atg	p.V93M	CDK8_ENST00000536792.1_Missense_Mutation_p.V93M	NM_001260.1	NP_001251.1	P49336	CDK8_HUMAN	cyclin-dependent kinase 8	93	Protein kinase.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	25	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)		TGATAGGAAGGTGTGGCTTCT	0.413000													64	112					0	0	1	0	0
MUC15	143662	broad.mit.edu	37	11	26582647	26582647	+	Missense_Mutation	SNP	T	T	C			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr11:26582647T>C	ENST00000436318.2	-	4	1184	c.1051A>G	c.(1051-1053)Atg>Gtg	p.M351V	MUC15_ENST00000527569.1_Missense_Mutation_p.M301V|MUC15_ENST00000529533.1_Missense_Mutation_p.M351V|ANO3_ENST00000531568.1_Intron|MUC15_ENST00000455601.2_Missense_Mutation_p.M324V|ANO3_ENST00000256737.3_Intron|ANO3_ENST00000537978.1_Intron|ANO3_ENST00000525139.1_Intron|MUC15_ENST00000281268.8_Missense_Mutation_p.M301V|ANO3_ENST00000529242.1_Intron			Q8N387	MUC15_HUMAN	mucin 15, cell surface associated	324						extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						ATGTCATCCATAGGAATGCCA	0.393000													44	50					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38768323	38768323	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr3:38768323G>A	ENST00000449082.2	-	16	2860	c.2861C>T	c.(2860-2862)tCc>tTc	p.S954F		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	954					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CTTGGAGCTGGAGAGTGGGAG	0.607000													20	30					0	0	1	0	0
NLRP13	126204	broad.mit.edu	37	19	56423608	56423608	+	Silent	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr19:56423608G>A	ENST00000588751.1	-	5	1599	c.1575C>T	c.(1573-1575)atC>atT	p.I525I	NLRP13_ENST00000342929.3_Silent_p.I525I			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	525	NACHT.						ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		CACAGTCATTGATCTTTTGAA	0.448000													20	27					0	0	1	0	0
WNK4	65266	broad.mit.edu	37	17	40937126	40937126	+	Silent	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr17:40937126G>A	ENST00000246914.5	+	5	1203	c.1182G>A	c.(1180-1182)ccG>ccA	p.P394P		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	394	Protein kinase.				intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		GCAGAAAGCCGAACAGCTTCC	0.592000													8	15					0	0	1	0	0
OR5T3	390154	broad.mit.edu	37	11	56019754	56019754	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr11:56019754G>A	ENST00000303059.3	+	1	79	c.79G>A	c.(79-81)Gat>Aat	p.D27N		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	27					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					ATCAGGTTTGGATATATACAG	0.358000													19	27					0	0	1	0	0
MAP3K5	4217	broad.mit.edu	37	6	136904796	136904796	+	Missense_Mutation	SNP	C	C	T	rs78303756		TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr6:136904796C>T	ENST00000359015.4	-	24	3668	c.3308G>A	c.(3307-3309)cGa>cAa	p.R1103Q	MAP3K5_ENST00000463140.1_5'UTR|MAP3K5_ENST00000355845.4_Missense_Mutation_p.R350Q	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	1103					activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		TATGATTTTTCGGTCAGTGGA	0.453000													46	42					0	0	1	0	0
MYCL	4610	broad.mit.edu	37	1	40366904	40366904	+	Missense_Mutation	SNP	C	C	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:40366904C>A	ENST00000397332.2	-	2	417	c.293G>T	c.(292-294)tGc>tTc	p.C98F	MYCL_ENST00000372815.1_Missense_Mutation_p.C98F|MYCL_ENST00000429311.1_Missense_Mutation_p.C68F|MYCL_ENST00000372816.2_Missense_Mutation_p.C68F	NM_001033081.2|NM_001033082.2	NP_001028253.1|NP_001028254.2			v-myc avian myelocytomatosis viral oncogene lung carcinoma derived homolog																		GTCTCCGGTGCACCCTCCGGG	0.726000													4	4					0.00024832	0.000249419	1	1	0
GRM3	2913	broad.mit.edu	37	7	86468428	86468428	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr7:86468428C>T	ENST00000361669.2	+	4	2697	c.1598C>T	c.(1597-1599)cCc>cTc	p.P533L	GRM3_ENST00000536043.1_Missense_Mutation_p.P405L|GRM3_ENST00000439827.1_Intron|GRM3_ENST00000394720.2_Intron|GRM3_ENST00000546348.1_Missense_Mutation_p.P125L	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	533					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	ATTTGCATCCCCTGTGAACCC	0.537000													91	115					0	0	1	0	0
FNDC8	54752	broad.mit.edu	37	17	33448814	33448814	+	Silent	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr17:33448814C>T	ENST00000158009.5	+	1	217	c.102C>T	c.(100-102)ccC>ccT	p.P34P		NM_017559.2	NP_060029.1	Q8TC99	FNDC8_HUMAN	fibronectin type III domain containing 8	34										breast(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	11		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.022)		TGCCAAAACCCTTTTCAAACC	0.483000													44	53					0	0	1	0	0
CLDN19	149461	broad.mit.edu	37	1	43200781	43200781	+	Silent	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:43200781G>A	ENST00000296387.1	-	5	841	c.651C>T	c.(649-651)tcC>tcT	p.S217S	CLDN19_ENST00000539749.1_3'UTR|CLDN19_ENST00000372539.3_3'UTR	NM_001123395.1|NM_148960.2	NP_001116867.1|NP_683763.2	Q8N6F1	CLD19_HUMAN	claudin 19	217					calcium-independent cell-cell adhesion|response to stimulus|visual perception	basolateral plasma membrane|integral to membrane|tight junction	identical protein binding			breast(2)|large_intestine(1)|lung(2)|skin(1)	6	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GGCCCTTGGCGGAGGCGGGCA	0.552000													9	10					0	0	1	0	0
SLC8A3	6547	broad.mit.edu	37	14	70633531	70633531	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr14:70633531C>T	ENST00000381269.2	-	2	2362	c.1609G>A	c.(1609-1611)Gat>Aat	p.D537N	SLC8A3_ENST00000528359.1_Missense_Mutation_p.D537N|SLC8A3_ENST00000356921.2_Missense_Mutation_p.D537N|SLC8A3_ENST00000357887.3_Missense_Mutation_p.D537N|SLC8A3_ENST00000534137.1_Missense_Mutation_p.D537N	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	537	Calx-beta 2.				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		TGAATAGTATCACATTCAAAA	0.507000													21	17					0	0	1	0	0
SYN3	8224	broad.mit.edu	37	22	32924957	32924957	+	Silent	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr22:32924957C>T	ENST00000358763.2	-	11	1376	c.1134G>A	c.(1132-1134)gtG>gtA	p.V378V	SYN3_ENST00000332840.5_Silent_p.V378V	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III	378	C; actin-binding and synaptic-vesicle binding.				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						TGTCCTCTTCCACATGCTCTC	0.597000											OREG0026488	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	34	43					0	0	1	0	0
FLT3LG	2323	broad.mit.edu	37	19	49978962	49978962	+	Silent	SNP	G	G	C			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr19:49978962G>C	ENST00000594009.1	+	2	127	c.48G>C	c.(46-48)ctG>ctC	p.L16L	FLT3LG_ENST00000344019.3_Silent_p.L16L|FLT3LG_ENST00000595815.1_3'UTR|FLT3LG_ENST00000600429.1_Silent_p.L16L|FLT3LG_ENST00000596435.1_Silent_p.L16L|FLT3LG_ENST00000595510.1_5'UTR|FLT3LG_ENST00000204637.2_5'UTR|FLT3LG_ENST00000597551.1_Silent_p.L16L|CTD-3148I10.9_ENST00000599536.1_Intron	NM_001204503.1	NP_001191432.1	P49771	FLT3L_HUMAN	fms-related tyrosine kinase 3 ligand	16					positive regulation of cell proliferation|signal transduction	extracellular space|integral to membrane|plasma membrane|soluble fraction	cytokine activity			large_intestine(2)|lung(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	10		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)		ATCTCCTCCTGCTGCTGCTGC	0.622000													4	106					0	0	1	0	0
CASP14	23581	broad.mit.edu	37	19	15164655	15164655	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr19:15164655G>A	ENST00000427043.3	+	4	597	c.289G>A	c.(289-291)Gga>Aga	p.G97R	CASP14_ENST00000221740.1_Missense_Mutation_p.G97R	NM_012114.2	NP_036246.1	P31944	CASPE_HUMAN	caspase 14, apoptosis-related cysteine peptidase	97					apoptosis|cell differentiation|epidermis development|proteolysis	cytoplasm|nucleus	cysteine-type endopeptidase activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(3)	26						CTTCCTCAAGGGAGAAGATGG	0.547000													42	78					0	0	1	0	0
SLC25A43	203427	broad.mit.edu	37	X	118544178	118544178	+	Silent	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chrX:118544178C>T	ENST00000217909.7	+	3	887	c.543C>T	c.(541-543)tcC>tcT	p.S181S	SLC25A43_ENST00000488158.1_3'UTR|SLC25A43_ENST00000336249.7_Intron	NM_145305.2	NP_660348.2	Q8WUT9	S2543_HUMAN	solute carrier family 25, member 43	181					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)	9						CTGCTGGCTCCCTTCTTGTTT	0.517000													69	5					0	0	1	0	0
SLITRK3	22865	broad.mit.edu	37	3	164906390	164906390	+	Silent	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr3:164906390G>A	ENST00000475390.1	-	2	2672	c.2229C>T	c.(2227-2229)atC>atT	p.I743I	SLITRK3_ENST00000241274.3_Silent_p.I743I			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	743						integral to membrane		p.I743I(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CCGGGTGGGGGATGTACTCAT	0.582000										HNSCC(40;0.11)			41	66					0	0	1	0	0
IGHV1-46	28465	broad.mit.edu	37	14	106967396	106967396	+	RNA	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr14:106967396G>A	ENST00000390622.2	-	0	350																											CTCTAAACTGGAAAAAATCCC	0.562000													39	39					0	0	1	0	0
CYP7B1	9420	broad.mit.edu	37	8	65527679	65527679	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr8:65527679C>T	ENST00000310193.3	-	4	1134	c.961G>A	c.(961-963)Gaa>Aaa	p.E321K	CYP7B1_ENST00000523954.1_5'UTR	NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1	321					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				CGGTCAATTTCGTCACGCACT	0.488000													28	49					0	0	1	0	0
TMEM150A	129303	broad.mit.edu	37	2	85826257	85826257	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr2:85826257C>T	ENST00000409668.1	-	7	1225	c.758G>A	c.(757-759)gGg>gAg	p.G253E	TMEM150A_ENST00000334462.5_Missense_Mutation_p.G253E|TMEM150A_ENST00000306353.3_Missense_Mutation_p.G200E			Q86TG1	T150A_HUMAN	transmembrane protein 150A	253						integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(2)|lung(1)|skin(1)	7						GCTGCTGCTCCCGGAGGACTT	0.632000													31	44					0	0	1	0	0
ZBTB34	403341	broad.mit.edu	37	9	129642870	129642870	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr9:129642870C>T	ENST00000319119.4	+	2	1277	c.1192C>T	c.(1192-1194)Cat>Tat	p.H398Y	ZBTB34_ENST00000373452.2_Missense_Mutation_p.H394Y	NM_001099270.1	NP_001092740.1	Q8NCN2	ZBT34_HUMAN	zinc finger and BTB domain containing 34	394					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12						CATGCGACTCCATATGGGAAT	0.493000													18	6					0	0	1	0	0
CARD11	84433	broad.mit.edu	37	7	2962946	2962946	+	Silent	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr7:2962946G>A	ENST00000396946.4	-	16	2365	c.1962C>T	c.(1960-1962)acC>acT	p.T654T		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	654					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		GCCCCACAGAGGTGACCGAAG	0.647000			Mis		DLBCL								24	30					0	0	1	0	0
NTRK3	4916	broad.mit.edu	37	15	88669548	88669548	+	Silent	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr15:88669548G>A	ENST00000394480.1	-	13	1671	c.1350C>T	c.(1348-1350)ttC>ttT	p.F450F	NTRK3_ENST00000558676.1_Silent_p.F442F|NTRK3_ENST00000540489.2_Silent_p.F450F|NTRK3_ENST00000355254.2_Silent_p.F450F|NTRK3_ENST00000558306.1_Intron|NTRK3_ENST00000357724.2_Silent_p.F442F|NTRK3_ENST00000557856.1_Silent_p.F442F|NTRK3_ENST00000317501.3_Silent_p.F450F|NTRK3_ENST00000542733.2_Silent_p.F352F|NTRK3_ENST00000360948.2_Silent_p.F450F	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	450					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			TGATCATGACGAAGAGAACCA	0.453000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			20	55					0	0	1	0	0
ABCC9	10060	broad.mit.edu	37	12	21954046	21954046	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr12:21954046C>T	ENST00000261200.4	-	38	4581	c.4582G>A	c.(4582-4584)Gac>Aac	p.D1528N		NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1528	ABC transporter 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TCTGGAGTGTCATATTCTAAA	0.378000													32	25					0	0	1	0	0
CXCR6	10663	broad.mit.edu	37	3	45988228	45988228	+	Silent	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr3:45988228C>T	ENST00000458629.1	+	1	1718	c.255C>T	c.(253-255)ccC>ccT	p.P85P	CXCR6_ENST00000438735.1_Silent_p.P85P|CXCR6_ENST00000457814.1_Silent_p.P85P|CXCR6_ENST00000304552.4_Silent_p.P85P|FYCO1_ENST00000438446.1_Intron|FYCO1_ENST00000296137.2_Intron|FYCO1_ENST00000535325.1_Intron			O00574	CXCR6_HUMAN	chemokine (C-X-C motif) receptor 6	85					viral genome replication	integral to plasma membrane	coreceptor activity			central_nervous_system(1)|endometrium(1)|kidney(3)|lung(1)|prostate(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		GCACTCTGCCCTTCTGGGCCT	0.517000													76	83					0	0	1	0	0
MUT	4594	broad.mit.edu	37	6	49419406	49419406	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr6:49419406G>A	ENST00000274813.3	-	6	1232	c.1105C>T	c.(1105-1107)Cgt>Tgt	p.R369C		NM_000255.3	NP_000246.2	P22033	MUTA_HUMAN	methylmalonyl CoA mutase	369			R -> C (in MMAM; mut0).|R -> H (in MMAM; mut- and mut0).		fatty acid beta-oxidation	mitochondrial matrix	cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ATTGCAGTACGGACAATATTA	0.353000													14	20					0	0	1	0	0
IRX2	153572	broad.mit.edu	37	5	2749124	2749124	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr5:2749124G>A	ENST00000382611.6	-	3	946	c.698C>T	c.(697-699)tCg>tTg	p.S233L	IRX2_ENST00000502957.1_5'UTR|IRX2_ENST00000302057.5_Missense_Mutation_p.S233L	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	233						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		CGACTCGGCCGAGCACGAGTG	0.697000													21	30					0	0	1	0	0
DNM1P47	100216544	broad.mit.edu	37	15	102292727	102292727	+	RNA	SNP	A	A	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr15:102292727A>T	ENST00000561463.1	+	0	773																											GGGAACAAGGAGACACTCCTG	0.582000													18	17					0	0	1	0	0
SOGA1	140710	broad.mit.edu	37	20	35425314	35425314	+	Silent	SNP	T	T	C			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr20:35425314T>C	ENST00000237536.4	-	13	3794	c.3453A>G	c.(3451-3453)gaA>gaG	p.E1151E	SOGA1_ENST00000456801.2_Silent_p.E754E|SOGA1_ENST00000357779.3_Silent_p.E913E|SOGA1_ENST00000279034.5_Silent_p.E913E	NM_080627.2	NP_542194.2	O94964	K0889_HUMAN	suppressor of glucose, autophagy associated 1	913										endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						CAAGCTCAACTTCGGAAACAG	0.577000													33	57					0	0	1	0	0
CATSPERB	79820	broad.mit.edu	37	14	92076928	92076928	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr14:92076928G>A	ENST00000256343.3	-	21	2650	c.2494C>T	c.(2494-2496)Ctc>Ttc	p.L832F		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	832					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				ATAGATCTGAGATAACTACAG	0.398000													20	31					0	0	1	0	0
RNF32	140545	broad.mit.edu	37	7	156447349	156447349	+	Silent	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr7:156447349C>T	ENST00000392741.2	+	3	442	c.354C>T	c.(352-354)ctC>ctT	p.L118L	RNF32_ENST00000317955.5_Silent_p.L118L|AC005534.8_ENST00000455709.1_RNA|RNF32_ENST00000480011.1_3'UTR|RNF32_ENST00000311822.8_Silent_p.L118L|RNF32_ENST00000405335.1_Silent_p.L118L|RNF32_ENST00000392743.2_Silent_p.L118L|RNF32_ENST00000432459.2_Silent_p.L118L|RNF32_ENST00000343665.4_Silent_p.L118L			Q9H0A6	RNF32_HUMAN	ring finger protein 32	118						aggresome|endosome	protein binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		AGCGCTCTCTCCTGCAAGGGG	0.532000													29	43					0	0	1	0	0
C1S	716	broad.mit.edu	37	12	7177836	7177836	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr12:7177836G>A	ENST00000406697.1	+	15	2576	c.1948G>A	c.(1948-1950)Gct>Act	p.A650T	C1S_ENST00000328916.3_Missense_Mutation_p.A650T|C1S_ENST00000402681.3_Missense_Mutation_p.A483T|C1S_ENST00000360817.5_Missense_Mutation_p.A650T			P09871	C1S_HUMAN	complement component 1, s subcomponent	650	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	ATTCTACGCAGCTGGCCTGGT	0.522000													68	108					0	0	1	0	0
KLK4	9622	broad.mit.edu	37	19	51412513	51412513	+	Silent	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr19:51412513G>A	ENST00000324041.1	-	2	218	c.219C>T	c.(217-219)ttC>ttT	p.F73F	KLK4_ENST00000431178.2_Silent_p.F24F	NM_004917.3	NP_004908.3	Q9Y5K2	KLK4_HUMAN	kallikrein-related peptidase 4	73	Peptidase S1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)		CTCACTTCTGGAAACAGTGTG	0.632000													88	110					0	0	1	0	0
C14orf177	283598	broad.mit.edu	37	14	99183583	99183583	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr14:99183583G>A	ENST00000325812.2	+	4	769	c.350G>A	c.(349-351)gGa>gAa	p.G117E		NM_182560.2	NP_872366.2	Q52M58	CN177_HUMAN	chromosome 14 open reading frame 177	117										endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	13		Melanoma(154;0.128)				CTGTTCAAAGGAACTGTAGAA	0.413000													21	36					0	0	1	0	0
MS4A8	83661	broad.mit.edu	37	11	60468341	60468341	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr11:60468341C>T	ENST00000300226.2	+	2	211	c.8C>T	c.(7-9)tCg>tTg	p.S3L		NM_031457.1	NP_113645.1			membrane-spanning 4-domains, subfamily A, member 8									p.S3L(2)									AGCATGAATTCGATGACTTCA	0.458000													74	88					0	0	1	0	0
CLDN6	9074	broad.mit.edu	37	16	3065797	3065797	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr16:3065797C>T	ENST00000396925.1	-	3	654	c.226G>A	c.(226-228)Gac>Aac	p.D76N	CLDN6_ENST00000572154.1_Intron|CLDN6_ENST00000328796.4_Missense_Mutation_p.D76N			P56747	CLD6_HUMAN	claudin 6	76					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	10						GCCTGCAGGTCCTGTGGCAGC	0.642000													31	44					0	0	1	0	0
ULK1	8408	broad.mit.edu	37	12	132400521	132400521	+	Silent	SNP	C	C	T	rs144046347	byFrequency	TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr12:132400521C>T	ENST00000321867.4	+	19	2046	c.1695C>T	c.(1693-1695)gtC>gtT	p.V565V		NM_003565.2	NP_003556.1	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	565					autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		ACTTGCACGTCGTCCGCCCCA	0.697000													48	48					0	0	1	0	0
NAV1	89796	broad.mit.edu	37	1	201777224	201777224	+	Silent	SNP	T	T	C			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:201777224T>C	ENST00000367296.4	+	18	4212	c.3792T>C	c.(3790-3792)gcT>gcC	p.A1264A	NAV1_ENST00000367295.1_Silent_p.A870A|NAV1_ENST00000367302.1_Silent_p.A1217A|NAV1_ENST00000295624.6_Silent_p.A1261A|NAV1_ENST00000367300.3_Silent_p.A1204A|NAV1_ENST00000367297.4_Silent_p.A1256A|IPO9-AS1_ENST00000413035.1_RNA	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1264					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						CAGAGACTGCTTCACCCTCCA	0.547000													61	131					0	0	1	0	0
MECOM	2122	broad.mit.edu	37	3	169099087	169099087	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr3:169099087G>A	ENST00000494292.1	-	2	360	c.263C>T	c.(262-264)cCt>cTt	p.P88L	MECOM_ENST00000485957.1_5'UTR	NM_004991.3	NP_004982.2	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	88							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TCCTGCCCCAGGCATATTTGA	0.483000													45	78					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55537388	55537388	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr8:55537388G>A	ENST00000220676.1	+	4	1094	c.946G>A	c.(946-948)Gaa>Aaa	p.E316K		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	316					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ATATCCTTCTGAAGATGATAT	0.303000													11	11					0	0	1	0	0
KRT31	3881	broad.mit.edu	37	17	39552737	39552737	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr17:39552737C>T	ENST00000251645.2	-	3	575	c.523G>A	c.(523-525)Gac>Aac	p.D175N		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	175	Coil 1B.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				GCCTCCAGGTCGGACTTGCAC	0.587000													51	53					0	0	1	0	0
TDRD5	163589	broad.mit.edu	37	1	179603749	179603749	+	Silent	SNP	A	A	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:179603749A>T	ENST00000444136.1	+	8	1534	c.1284A>T	c.(1282-1284)gtA>gtT	p.V428V	TDRD5_ENST00000367614.1_Silent_p.V428V|TDRD5_ENST00000294848.8_Silent_p.V428V	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	428					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						ATCTGGTGGTAAAGCCTTTAC	0.383000													64	46					0	0	1	0	0
TUBBP5	643224	broad.mit.edu	37	9	141070213	141070213	+	RNA	SNP	A	A	G			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr9:141070213A>G	ENST00000503395.1	+	0	1293																											AGGGCAGCTCAAAATCCAGGA	0.632000													2	2					0	0	1	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5190167	5190167	+	Silent	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr5:5190167G>A	ENST00000274181.7	+	7	1269	c.1131G>A	c.(1129-1131)ggG>ggA	p.G377G	ADAMTS16_ENST00000511368.1_Silent_p.G377G	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	377	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GGAAAGATGGGACTCGTCATG	0.517000													53	68					0	0	1	0	0
CNTN5	53942	broad.mit.edu	37	11	100141834	100141834	+	Silent	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr11:100141834C>T	ENST00000524871.1	+	18	2465	c.2175C>T	c.(2173-2175)atC>atT	p.I725I	CNTN5_ENST00000528682.1_Silent_p.I725I|CNTN5_ENST00000279463.3_Silent_p.I725I|CNTN5_ENST00000418526.2_Silent_p.I651I|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000527185.1_Silent_p.I725I	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	725	Fibronectin type-III 1.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TCCCAGAAATCATAACAGGGG	0.423000													18	35					0	0	1	0	0
SLC1A7	6512	broad.mit.edu	37	1	53608038	53608038	+	Silent	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:53608038G>A	ENST00000371494.4	-	1	211	c.84C>T	c.(82-84)atC>atT	p.I28I	SLC1A7_ENST00000371491.4_Silent_p.I28I	NM_006671.4	NP_006662.3	O00341	EAA5_HUMAN	solute carrier family 1 (glutamate transporter), member 7	28						integral to membrane|plasma membrane	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Colorectal(1306;0.234)	L-Glutamic Acid(DB00142)	GGCAGCCCACGATGACAGACA	0.652000													4	5					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152770686	152770686	+	Silent	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr6:152770686C>T	ENST00000367255.5	-	28	4087	c.3486G>A	c.(3484-3486)gaG>gaA	p.E1162E	SYNE1_ENST00000423061.1_Silent_p.E1169E|SYNE1_ENST00000367248.3_Silent_p.E1152E|SYNE1_ENST00000367253.4_Silent_p.E1162E|SYNE1_ENST00000413186.2_Silent_p.E1162E|SYNE1_ENST00000265368.4_Silent_p.E1162E|SYNE1_ENST00000341594.5_Silent_p.E1228E|SYNE1_ENST00000448038.1_Silent_p.E1169E	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1162					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)		CACGTTTAACCTCTCCGTGGT	0.403000										HNSCC(10;0.0054)			38	41					0	0	1	0	0
ZNF678	339500	broad.mit.edu	37	1	227842737	227842737	+	Silent	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:227842737G>A	ENST00000343776.4	+	4	1131	c.786G>A	c.(784-786)gaG>gaA	p.E262E	ZNF678_ENST00000397097.3_Silent_p.E317E|ZNF678_ENST00000498759.1_Intron			F5GXA7	F5GXA7_HUMAN	zinc finger protein 678	317					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1)	24		Prostate(94;0.0885)				ATACTGGAGAGAAACCTTACA	0.378000													32	36					0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79460483	79460483	+	Silent	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr4:79460483C>T	ENST00000264895.6	+	73	11774	c.11334C>T	c.(11332-11334)ttC>ttT	p.F3778F		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3773					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ATAAGTACTTCCATGATGTGC	0.423000													25	39					0	0	1	0	0
C1orf111	284680	broad.mit.edu	37	1	162344172	162344172	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:162344172C>T	ENST00000367935.4	-	3	531	c.452G>A	c.(451-453)cGa>cAa	p.R151Q	RP11-565P22.6_ENST00000431696.1_Intron	NM_182581.3	NP_872387.2	Q5T0L3	CA111_HUMAN	chromosome 1 open reading frame 111	151										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11	all_hematologic(112;0.15)		BRCA - Breast invasive adenocarcinoma(70;0.0938)			GGTGGCTTCTCGAGGGCAAGT	0.557000													159	123					0	0	1	0	0
ESPNL	339768	broad.mit.edu	37	2	239037360	239037360	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr2:239037360G>A	ENST00000343063.3	+	8	1491	c.1228G>A	c.(1228-1230)Gcg>Acg	p.A410T	ESPNL_ENST00000409506.1_Missense_Mutation_p.A42T|ESPNL_ENST00000409169.1_Missense_Mutation_p.A366T	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN	espin-like	410										endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		GACAGAGACGGCGCTGGCGGG	0.697000													9	6					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164735374	164735374	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr3:164735374C>T	ENST00000264382.3	-	31	3783	c.3721G>A	c.(3721-3723)Gaa>Aaa	p.E1241K		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1241	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TCATATAATTCCCGAACCTCT	0.338000										HNSCC(35;0.089)			26	21					0	0	1	0	0
ACSM2B	348158	broad.mit.edu	37	16	20566602	20566602	+	Silent	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr16:20566602C>T	ENST00000329697.6	-	4	753	c.585G>A	c.(583-585)aaG>aaA	p.K195K	ACSM2B_ENST00000567001.1_Silent_p.K195K|ACSM2B_ENST00000565232.1_Silent_p.K195K|ACSM2B_ENST00000565322.1_Silent_p.K116K|ACSM2B_ENST00000414188.2_Silent_p.K195K	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	195					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						TTAGTAGTTTCTTGAAGTTCA	0.438000													76	122					0	0	1	0	0
ADA	100	broad.mit.edu	37	20	43255108	43255108	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr20:43255108C>T	ENST00000372874.4	-	4	485	c.351G>A	c.(349-351)tgG>tgA	p.W117*	ADA_ENST00000464097.1_5'UTR|ADA_ENST00000537820.1_Nonsense_Mutation_p.W117*	NM_000022.2	NP_000013.2	P00813	ADA_HUMAN	adenosine deaminase	117					adenosine catabolic process|cell adhesion|hypoxanthine salvage|inosine biosynthetic process|negative regulation of adenosine receptor signaling pathway|purine nucleotide salvage|purine ribonucleoside monophosphate biosynthetic process|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation	cell junction|cytoplasmic membrane-bounded vesicle lumen|cytosol|external side of plasma membrane|lysosome	adenosine deaminase activity|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(2)|prostate(3)|skin(2)|urinary_tract(1)	18		all_lung(126;1.24e-07)|Lung NSC(126;1.94e-07)|Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)		Adenosine(DB00640)|Cladribine(DB00242)|Dipyridamole(DB00975)|Erythromycin(DB00199)|Fludarabine(DB01073)|Idoxuridine(DB00249)|Nelarabine(DB01280)|Pentostatin(DB00552)|Theophylline(DB00277)|Vidarabine(DB00194)	CAGCCTGGTTCCAGGGGATTG	0.592000									Adenosine Deaminase Deficiency				32	29					0	0	1	0	0
NOD2	64127	broad.mit.edu	37	16	50745604	50745604	+	Silent	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr16:50745604G>A	ENST00000300589.2	+	4	1887	c.1782G>A	c.(1780-1782)ggG>ggA	p.G594G		NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	594	NACHT.				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				TCGTGCCAGGGAGTACGGCGC	0.577000													7	3					0	0	1	0	0
C14orf159	80017	broad.mit.edu	37	14	91655311	91655311	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr14:91655311C>T	ENST00000518868.1	+	12	1682	c.992C>T	c.(991-993)tCg>tTg	p.S331L	C14orf159_ENST00000525393.2_Missense_Mutation_p.S202L|C14orf159_ENST00000523816.1_Missense_Mutation_p.S326L|C14orf159_ENST00000428926.2_Missense_Mutation_p.S326L|C14orf159_ENST00000412671.2_Missense_Mutation_p.S331L|C14orf159_ENST00000523771.1_Missense_Mutation_p.S326L|C14orf159_ENST00000522322.1_Missense_Mutation_p.S326L|C14orf159_ENST00000256324.10_Missense_Mutation_p.S331L|C14orf159_ENST00000521077.2_Missense_Mutation_p.S331L|C14orf159_ENST00000520328.1_Missense_Mutation_p.S314L			Q7Z3D6	CN159_HUMAN	chromosome 14 open reading frame 159	326						mitochondrion				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0191)|all_epithelial(191;0.241)		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)		GCCTCTCTCTCGCTGTCCCAT	0.493000													28	25					0	0	1	0	0
SNURF	8926	broad.mit.edu	37	15	25207350	25207350	+	Missense_Mutation	SNP	A	A	G			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr15:25207350A>G	ENST00000338094.6	+	2	165	c.104A>G	c.(103-105)aAc>aGc	p.N35S	SNRPN_ENST00000577565.1_5'UTR|SNRPN_ENST00000400097.1_5'UTR|SNRPN_ENST00000400098.1_5'UTR|SNRPN_ENST00000390687.4_5'UTR|SNRPN_ENST00000400100.1_5'UTR|SNURF_ENST00000577949.1_Missense_Mutation_p.N35S|SNRPN_ENST00000554227.2_5'UTR|SNURF_ENST00000338327.4_Missense_Mutation_p.N35S|SNRPN_ENST00000553597.1_3'UTR|SNRPN_ENST00000346403.6_5'UTR	NM_003097.3|NM_005678.3	NP_003088.1|NP_005669.2			SNRPN upstream reading frame											breast(2)|large_intestine(2)|lung(1)	5		all_cancers(20;1.4e-21)|Breast(32;0.000625)		all cancers(64;3.48e-07)|Epithelial(43;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0142)		TCACTGAGCAACCAAGAGTGA	0.438000													41	51					0	0	1	0	0
VPS11	55823	broad.mit.edu	37	11	118944615	118944615	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr11:118944615C>T	ENST00000300793.6	+	8	1231	c.1189C>T	c.(1189-1191)Ctc>Ttc	p.L397F	VPS11_ENST00000527798.1_3'UTR	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11 homolog (S. cerevisiae)	398					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)		TGGAGACCATCTCTACAGCAA	0.507000													22	30					0	0	1	0	0
CNGA2	1260	broad.mit.edu	37	X	150909279	150909279	+	Silent	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chrX:150909279C>T	ENST00000329903.4	+	4	421	c.388C>T	c.(388-390)Cta>Tta	p.L130L		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	130					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					GAAATTTGAACTATTTGTCTT	0.527000													105	13					0	0	1	0	0
NOS2	4843	broad.mit.edu	37	17	26114749	26114749	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr17:26114749G>A	ENST00000313735.6	-	5	655	c.422C>T	c.(421-423)cCt>cTt	p.P141L		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	141					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	GATAGCTTGAGGTAGAAGCTC	0.522000													48	80					0	0	1	0	0
KRTAP12-3	386683	broad.mit.edu	37	21	46078006	46078006	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr21:46078006C>T	ENST00000397907.1	+	1	158	c.110C>T	c.(109-111)cCc>cTc	p.P37L	TSPEAR_ENST00000323084.4_Intron	NM_198697.2	NP_941970.2	P60328	KR123_HUMAN	keratin associated protein 12-3	37	14 X 5 AA approximate repeats.					intermediate filament				central_nervous_system(1)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						GTGTGCATGCCCGTGAGCTGC	0.647000													55	97					0	0	1	0	0
IRX5	10265	broad.mit.edu	37	16	54966458	54966458	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr16:54966458C>T	ENST00000394636.4	+	2	635	c.298C>T	c.(298-300)Cat>Tat	p.H100Y	IRX5_ENST00000558597.1_Missense_Mutation_p.H34Y|IRX5_ENST00000560154.1_Intron|IRX5_ENST00000320990.5_Missense_Mutation_p.H100Y			P78411	IRX5_HUMAN	iroquois homeobox 5	100					response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding			kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						CTTGGGGTACCATCCTTACGC	0.657000													22	11					0	0	1	0	0
POF1B	79983	broad.mit.edu	37	X	84634231	84634231	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chrX:84634231G>A	ENST00000262753.4	-	2	374	c.229C>T	c.(229-231)Cct>Tct	p.P77S	POF1B_ENST00000373145.3_Missense_Mutation_p.P77S	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	77							actin binding			central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						GTTTTGAGAGGGGAGAGCACT	0.493000													11	3					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179664612	179664612	+	Silent	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr2:179664612C>T	ENST00000589042.1	-	5	833	c.609G>A	c.(607-609)aaG>aaA	p.K203K	TTN_ENST00000342992.6_Silent_p.K203K|TTN_ENST00000591111.1_Silent_p.K203K|TTN_ENST00000342175.6_Silent_p.K203K|TTN_ENST00000460472.2_Silent_p.K203K|TTN_ENST00000360870.5_Silent_p.K203K|TTN_ENST00000359218.5_Silent_p.K203K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	203							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGTCTTTGTCTTTTTAGCAG	0.398000													24	33					0	0	1	0	0
C6	729	broad.mit.edu	37	5	41154034	41154034	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr5:41154034C>T	ENST00000263413.3	-	15	2432	c.2168G>A	c.(2167-2169)aGa>aAa	p.R723K	C6_ENST00000337836.5_Missense_Mutation_p.R723K	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	723	C5b-binding domain.|Sushi 2.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TTCACCAATTCTATACAATCT	0.463000													33	36					0	0	1	0	0
GPHN	10243	broad.mit.edu	37	14	67610133	67610133	+	Silent	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr14:67610133C>T	ENST00000478722.1	+	18	2924	c.1803C>T	c.(1801-1803)atC>atT	p.I601I	GPHN_ENST00000543237.1_Silent_p.I614I|GPHN_ENST00000544752.2_3'UTR|GPHN_ENST00000315266.5_Silent_p.I568I|GPHN_ENST00000305960.9_Silent_p.I537I	NM_020806.4	NP_065857.1	Q9NQX3	GEPH_HUMAN	gephyrin	568	MPT adenylyltransferase.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity			large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		CTGATGTCATCATCACATCAG	0.403000			T	MLL	AL								88	120					0	0	1	0	0
PRPF8	10594	broad.mit.edu	37	17	1564010	1564010	+	Silent	SNP	C	C	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr17:1564010C>A	ENST00000572621.1	-	28	4885	c.4620G>T	c.(4618-4620)ccG>ccT	p.P1540P	PRPF8_ENST00000304992.6_Silent_p.P1540P			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1540						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		GATTAATGGTCGGGGACCACC	0.498000													37	45					6.2361e-21	6.31023e-21	1	1	0
CRB1	23418	broad.mit.edu	37	1	197297909	197297909	+	Missense_Mutation	SNP	G	G	A	rs62636261		TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:197297909G>A	ENST00000367400.3	+	2	563	c.428G>A	c.(427-429)aGa>aAa	p.R143K	CRB1_ENST00000367399.2_Missense_Mutation_p.R143K|CRB1_ENST00000535699.1_Missense_Mutation_p.R74K|CRB1_ENST00000538660.1_Missense_Mutation_p.R143K	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	143	EGF-like 3.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TATGCTGGAAGATTCTGTGAG	0.507000													8	17					0	0	1	0	0
MAP3K19	80122	broad.mit.edu	37	2	135738568	135738568	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr2:135738568G>A	ENST00000375845.3	-	9	3773	c.3743C>T	c.(3742-3744)tCa>tTa	p.S1248L	MAP3K19_ENST00000392917.3_Missense_Mutation_p.S380L|MAP3K19_ENST00000375844.3_Missense_Mutation_p.S430L|MAP3K19_ENST00000358371.4_Missense_Mutation_p.S1135L|MAP3K19_ENST00000315513.3_Missense_Mutation_p.S109L|MAP3K19_ENST00000392915.1_3'UTR|MAP3K19_ENST00000392918.3_Missense_Mutation_p.S382L	NM_025052.3	NP_079328.3			mitogen-activated protein kinase kinase kinase 19																		CCAGATATCTGATTTCCGTCC	0.498000													28	30					0	0	1	0	0
CDC42BPG	55561	broad.mit.edu	37	11	64599020	64599020	+	Silent	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr11:64599020G>A	ENST00000342711.5	-	28	3260	c.3261C>T	c.(3259-3261)aaC>aaT	p.N1087N	CDC42BPG_ENST00000491280.1_5'UTR	NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	1087					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						GCGGCAGCCCGTTGTCGTAAG	0.677000											OREG0004016	type=REGULATORY REGION|Gene=CDC42BPG|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	36	71					0	0	1	0	0
OR8B2	26595	broad.mit.edu	37	11	124253193	124253193	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr11:124253193C>T	ENST00000375013.2	-	1	65	c.47G>A	c.(46-48)gGa>gAa	p.G16E		NM_001005468.1	NP_001005468.1	Q96RD0	OR8B2_HUMAN	olfactory receptor, family 8, subfamily B, member 2	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		ATCTGTTAATCCAGCAAGAAT	0.393000													4	99					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228476428	228476428	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:228476428G>A	ENST00000570156.2	+	43	11539	c.11465G>A	c.(11464-11466)tGg>tAg	p.W3822*	OBSCN_ENST00000366709.4_Nonsense_Mutation_p.W512*|OBSCN_ENST00000422127.1_Nonsense_Mutation_p.W3393*|OBSCN_ENST00000359599.6_Nonsense_Mutation_p.W2240*|OBSCN_ENST00000284548.11_Nonsense_Mutation_p.W3393*|OBSCN_ENST00000366707.4_Nonsense_Mutation_p.W512*	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2859	Ig-like 39.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCCGTGGAGTGGAGGAAGGGG	0.622000													37	116					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100687008	100687008	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr7:100687008C>T	ENST00000306151.4	+	3	12375	c.12311C>T	c.(12310-12312)tCc>tTc	p.S4104F		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4104						extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CGGACCACTTCCTTCCCCACG	0.547000													59	82					0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100865828	100865828	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr8:100865828C>T	ENST00000358544.2	+	56	10397	c.10286C>T	c.(10285-10287)cCc>cTc	p.P3429L	VPS13B_ENST00000357162.2_Missense_Mutation_p.P3404L|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3429					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GGAGCTGGTCCCCTCCCTGGG	0.537000													19	18					0	0	1	0	0
ATP2B2	491	broad.mit.edu	37	3	10382301	10382301	+	Missense_Mutation	SNP	A	A	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr3:10382301A>T	ENST00000397077.1	-	19	3445	c.2870T>A	c.(2869-2871)tTc>tAc	p.F957Y	ATP2B2_ENST00000383800.4_Missense_Mutation_p.F957Y|ATP2B2_ENST00000352432.4_Missense_Mutation_p.F1002Y|ATP2B2_ENST00000343816.4_Missense_Mutation_p.F988Y|ATP2B2_ENST00000360273.2_Missense_Mutation_p.F1002Y			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	1002					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CATCATGACGAAGGTGTTGAA	0.552000													76	90					0	0	1	0	0
OR5M9	390162	broad.mit.edu	37	11	56230746	56230746	+	Silent	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr11:56230746G>A	ENST00000279791.1	-	1	131	c.132C>T	c.(130-132)atC>atT	p.I44I		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	44					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					TAATCAAAATGATCATACCAA	0.473000													18	20					0	0	1	0	0
LMO7	4008	broad.mit.edu	37	13	76374871	76374871	+	Translation_Start_Site	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr13:76374871G>A	ENST00000321797.8	+	0	536				RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000357063.3_Missense_Mutation_p.G224S|LMO7_ENST00000377534.3_Missense_Mutation_p.G224S|LMO7_ENST00000341547.4_Missense_Mutation_p.G224S|LMO7_ENST00000526202.1_Missense_Mutation_p.G133S|LMO7_ENST00000465261.2_De_novo_Start_OutOfFrame			Q8WWI1	LMO7_HUMAN	LIM domain 7							cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		CAGTGGCTACGGTGACATCTG	0.438000													41	42					0	0	1	0	0
H2AFY	9555	broad.mit.edu	37	5	134724752	134724752	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr5:134724752G>A	ENST00000511689.1	-	2	625	c.32C>T	c.(31-33)aCc>aTc	p.T11I	H2AFY_ENST00000423969.2_Missense_Mutation_p.T11I|H2AFY_ENST00000510038.1_Missense_Mutation_p.T11I|H2AFY_ENST00000304332.4_Missense_Mutation_p.T11I|H2AFY_ENST00000312469.4_Missense_Mutation_p.T11I	NM_001040158.1|NM_138610.2	NP_001035248.1|NP_613258.2	O75367	H2AY_HUMAN	H2A histone family, member Y	11	Histone H2A.				chromatin modification|dosage compensation|nucleosome assembly	Barr body|nucleosome	DNA binding			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGACGTCTTGGTGGACTTCTT	0.617000													17	38					0	0	1	0	0
TNRC6C	57690	broad.mit.edu	37	17	76089202	76089202	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr17:76089202C>T	ENST00000335749.4	+	15	4719	c.4150C>T	c.(4150-4152)Cca>Tca	p.P1384S	TNRC6C_ENST00000301624.4_Missense_Mutation_p.P1387S|TNRC6C_ENST00000541771.1_Missense_Mutation_p.P1387S|TNRC6C_ENST00000588847.1_Missense_Mutation_p.P1384S|TNRC6C_ENST00000544502.1_Missense_Mutation_p.P1384S|TNRC6C_ENST00000588061.1_Missense_Mutation_p.P1387S	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	1387	Sufficient for translational repression when tethered to a target mRNA.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			CAACTGGCCCCCAGGTAAGAC	0.522000													8	22					0	0	1	0	0
CFI	3426	broad.mit.edu	37	4	110670660	110670660	+	Missense_Mutation	SNP	G	G	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr4:110670660G>T	ENST00000394634.2	-	9	1246	c.1039C>A	c.(1039-1041)Caa>Aaa	p.Q347K	CFI_ENST00000512148.1_Missense_Mutation_p.Q340K|CFI_ENST00000394635.3_Missense_Mutation_p.Q355K	NM_000204.3	NP_000195.2	P05156	CFAI_HUMAN	complement factor I	347	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		TTTACCAGTTGTGCTCGCTTT	0.413000													39	47					6.23363e-37	6.33598e-37	1	1	0
HMCN1	83872	broad.mit.edu	37	1	185988675	185988675	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:185988675C>T	ENST00000271588.4	+	35	5702	c.5473C>T	c.(5473-5475)Cct>Tct	p.P1825S	HMCN1_ENST00000367492.2_Missense_Mutation_p.P1825S	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1825					response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AAATATAGTTCCTCCAACAAT	0.403000													33	81					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158644451	158644451	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:158644451G>T	ENST00000368148.3	-	9	1307	c.1127C>A	c.(1126-1128)tCa>tAa	p.S376*	SPTA1_ENST00000368147.3_Nonsense_Mutation_p.S376*	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	376					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AAAGTCAGATGAAAATCGATG	0.453000													92	77					2.3733e-33	2.40867e-33	1	1	0
KIAA1804	84451	broad.mit.edu	37	1	233482282	233482282	+	Silent	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:233482282C>T	ENST00000366624.3	+	2	1161	c.900C>T	c.(898-900)acC>acT	p.T300T	MLK4_ENST00000366623.3_Silent_p.T300T	NM_032435.2	NP_115811.2																					ACAGGACCACCAAAATGAGCA	0.458000													47	43					0	0	1	0	0
KEL	3792	broad.mit.edu	37	7	142649599	142649599	+	Silent	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr7:142649599G>A	ENST00000355265.2	-	10	1674	c.1200C>T	c.(1198-1200)ccC>ccT	p.P400P	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	400					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					TCCTCACCATGGGTGGTTGCT	0.557000													45	44					0	0	1	0	0
CEL	1056	broad.mit.edu	37	9	135946961	135946961	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr9:135946961C>T	ENST00000372080.4	+	11	2097	c.2081C>T	c.(2080-2082)cCc>cTc	p.P694L	CEL_ENST00000351304.7_Missense_Mutation_p.P625L	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	691	17 X 11 AA tandem repeats, glycodomain, O-linked (mucin type).				cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		GGCGCCCCCCCCGTGCCGCCC	0.836000													2	0					0	0	1	0	0
P2RX3	5024	broad.mit.edu	37	11	57114648	57114648	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr11:57114648G>A	ENST00000263314.2	+	3	348	c.314G>A	c.(313-315)gGa>gAa	p.G105E		NM_002559.3	NP_002550.2	P56373	P2RX3_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 3	105					positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(15)|prostate(1)	26						CAGATGCAAGGATTCTGCCCA	0.517000													20	29					0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166170253	166170253	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr2:166170253G>A	ENST00000375437.2	+	9	1448	c.1158G>A	c.(1156-1158)tgG>tgA	p.W386*	SCN2A_ENST00000283256.6_Nonsense_Mutation_p.W386*|SCN2A_ENST00000375427.2_Nonsense_Mutation_p.W386*|SCN2A_ENST00000357398.3_Nonsense_Mutation_p.W386*	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	386					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	AAGACTTCTGGGAAAACCTTT	0.383000													18	21					0	0	1	0	0
GAS2L2	246176	broad.mit.edu	37	17	34071983	34071983	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr17:34071983C>T	ENST00000254466.6	-	6	2560	c.2533G>A	c.(2533-2535)Gag>Aag	p.E845K	GAS2L2_ENST00000587565.1_Missense_Mutation_p.E829K	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	845					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GGctctttctcctcctttcct	0.602000													16	22					0	0	1	0	0
ATIC	471	broad.mit.edu	37	2	216190051	216190051	+	Splice_Site	SNP	T	T	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr2:216190051T>A	ENST00000435675.1	+	4	766	c.376_splice	c.e4+1	p.I125_splice	ATIC_ENST00000236959.9_Splice_Site_p.I126_splice|ATIC_ENST00000540518.1_Splice_Site_p.I67_splice			P31939	PUR9_HUMAN	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	126					IMP biosynthetic process|purine base metabolic process	cytosol	IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity		ATIC/ALK(24)	large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8		Renal(323;0.229)		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	Tetrahydrofolic acid(DB00116)	AAATTGACATTGGTAAGTCAG	0.353000			T	ALK	ALCL								10	22					0	0	1	0	0
TMEM225	338661	broad.mit.edu	37	11	123755267	123755267	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr11:123755267C>T	ENST00000375026.2	-	2	474	c.258G>A	c.(256-258)atG>atA	p.M86I		NM_001013743.1	NP_001013765.1	Q6GV28	TM225_HUMAN	transmembrane protein 225	86						integral to membrane		p.M86I(2)		endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						AGGTGAATTTCATACCCAGGA	0.413000													22	39					0	0	1	0	0
ZNF702P	79986	broad.mit.edu	37	19	53472947	53472947	+	RNA	SNP	A	A	G			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr19:53472947A>G	ENST00000600068.1	-	0	489				ZNF702P_ENST00000270443.4_RNA																							TTACACTTGTAAGGTTTCTCT	0.338000													10	24					0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166201121	166201121	+	Silent	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr2:166201121C>T	ENST00000375437.2	+	16	2909	c.2619C>T	c.(2617-2619)atC>atT	p.I873I	SCN2A_ENST00000283256.6_Silent_p.I873I|SCN2A_ENST00000375427.2_Silent_p.I873I|SCN2A_ENST00000357398.3_Silent_p.I873I	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	873					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	TAATTAAGATCATTGGCAATT	0.423000													38	31					0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26422479	26422479	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr22:26422479C>T	ENST00000335473.7	+	43	6789	c.6539C>T	c.(6538-6540)aCc>aTc	p.T2180I	MYO18B_ENST00000407587.2_Missense_Mutation_p.T2181I|MYO18B_ENST00000536101.1_Missense_Mutation_p.T2180I	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2180						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GCCCGGTCCACCAATGTCCAC	0.547000													67	69					0	0	1	0	0
SLPI	6590	broad.mit.edu	37	20	43882350	43882350	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr20:43882350G>A	ENST00000338380.2	-	2	130	c.110C>T	c.(109-111)cCt>cTt	p.P37L		NM_003064.2	NP_003055.1	P03973	SLPI_HUMAN	secretory leukocyte peptidase inhibitor	37	Trypsin inhibitory domain.|WAP 1.					extracellular region	serine-type endopeptidase inhibitor activity			lung(3)|ovary(1)	4		Myeloproliferative disorder(115;0.0122)				AGATTTCTTAGGAGGACAGAC	0.507000													14	21					0	0	1	0	0
ARHGAP5	394	broad.mit.edu	37	14	32563240	32563240	+	Missense_Mutation	SNP	G	G	A	rs142991621		TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr14:32563240G>A	ENST00000345122.3	+	2	3680	c.3365G>A	c.(3364-3366)cGa>cAa	p.R1122Q	ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.R1122Q|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.R1122Q|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.R1122Q|ARHGAP5_ENST00000396582.2_Intron	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	1122					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		ATTAAAATTCGAAACTCATTT	0.353000													14	20					0	0	1	0	0
DDX24	57062	broad.mit.edu	37	14	94517719	94517719	+	Silent	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr14:94517719G>A	ENST00000330836.5	-	9	2529	c.2398C>T	c.(2398-2400)Ctg>Ttg	p.L800L	DDX24_ENST00000555054.1_Silent_p.L757L|DDX24_ENST00000544005.1_Silent_p.L550L|DDX24_ENST00000553400.1_5'UTR	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	800					RNA metabolic process	cytoplasm|nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		TCCGTAAACAGTGGCTGGGAC	0.532000											OREG0022891	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	48	57					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61832104	61832104	+	Silent	SNP	T	T	G			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr10:61832104T>G	ENST00000280772.1	-	37	8726	c.8535A>C	c.(8533-8535)ggA>ggC	p.G2845G	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2845					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						TGTCCCATGGTCCCCTAGTTG	0.408000													32	9					0	0	1	0	0
IFT140	9742	broad.mit.edu	37	16	1570724	1570724	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr16:1570724G>A	ENST00000426508.2	-	27	3902	c.3539C>T	c.(3538-3540)tCc>tTc	p.S1180F	IFT140_ENST00000361339.5_Missense_Mutation_p.S374F	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140 homolog (Chlamydomonas)	1180										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				CAGGTCCGAGGAGTCCTTGGC	0.612000													13	14					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13842003	13842003	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr5:13842003C>T	ENST00000265104.4	-	33	5386	c.5282G>A	c.(5281-5283)cGa>cAa	p.R1761Q		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1761	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TGACAGAATTCGATCATAGAT	0.328000									Kartagener syndrome				22	36					0	0	1	0	0
IGSF9	57549	broad.mit.edu	37	1	159912814	159912814	+	Silent	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:159912814G>A	ENST00000368094.1	-	3	383	c.186C>T	c.(184-186)ttC>ttT	p.F62F	IGSF9_ENST00000361509.3_Silent_p.F62F	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	62	Ig-like 1.					cell junction|integral to membrane|synapse				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			TGGGAAGCAGGAATCCAAAGC	0.627000													42	44					0	0	1	0	0
DCX	1641	broad.mit.edu	37	X	110576300	110576300	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chrX:110576300C>T	ENST00000338081.3	-	4	1201	c.1030G>A	c.(1030-1032)Gat>Aat	p.D344N	DCX_ENST00000356915.2_Missense_Mutation_p.D263N|DCX_ENST00000371993.2_Missense_Mutation_p.D263N|DCX_ENST00000356220.3_Missense_Mutation_p.D263N|DCX_ENST00000496551.1_5'UTR|DCX_ENST00000488120.1_Missense_Mutation_p.D263N	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	344	Doublecortin 2.				axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						AGAGAAAAATCATCCTGAGCA	0.398000													4	1					0	0	1	0	0
ENPP5	59084	broad.mit.edu	37	6	46129247	46129247	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr6:46129247G>A	ENST00000371383.2	-	5	1510	c.1250C>T	c.(1249-1251)cCt>cTt	p.P417L	ENPP5_ENST00000230565.3_Missense_Mutation_p.P417L			Q9UJA9	ENPP5_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative)	417						extracellular region|integral to membrane	hydrolase activity	p.P417H(1)		endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						AACACTACCAGGGAGGAGTAT	0.438000													28	19					0	0	1	0	0
OR6Y1	391112	broad.mit.edu	37	1	158517650	158517650	+	Silent	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:158517650G>A	ENST00000302617.3	-	1	245	c.246C>T	c.(244-246)atC>atT	p.I82I		NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y, member 1	82					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					TCTTGGGGCTGATGACTGTGA	0.453000													49	86					0	0	1	0	0
C15orf43	145645	broad.mit.edu	37	15	45253724	45253724	+	Missense_Mutation	SNP	T	T	C			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr15:45253724T>C	ENST00000340827.3	+	4	307	c.290T>C	c.(289-291)aTa>aCa	p.I97T		NM_152448.2	NP_689661.1	Q8NHR7	CO043_HUMAN	chromosome 15 open reading frame 43	97										NS(1)|breast(2)|large_intestine(1)|lung(2)|skin(2)	8		all_cancers(109;3.68e-08)|all_epithelial(112;1.05e-06)|Lung NSC(122;1.42e-05)|all_lung(180;0.000112)|Melanoma(134;0.0192)		all cancers(107;7.64e-17)|GBM - Glioblastoma multiforme(94;2.03e-06)		ACCACAGAAATAAGAAGAAAA	0.299000													12	15					0	0	1	0	0
ALDH9A1	223	broad.mit.edu	37	1	165652225	165652225	+	Silent	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:165652225G>A	ENST00000354775.4	-	3	754	c.450C>T	c.(448-450)tcC>tcT	p.S150S	ALDH9A1_ENST00000461664.1_5'UTR|ALDH9A1_ENST00000538148.1_Silent_p.S56S	NM_000696.3	NP_000687.3	P49189	AL9A1_HUMAN	aldehyde dehydrogenase 9 family, member A1	126				C -> Q (in Ref. 7; AA sequence).	carnitine biosynthetic process|cellular aldehyde metabolic process|hormone metabolic process|neurotransmitter biosynthetic process	cytosol|plasma membrane	3-chloroallyl aldehyde dehydrogenase activity|4-trimethylammoniobutyraldehyde dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|aminobutyraldehyde dehydrogenase activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	21	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				NADH(DB00157)	TACCAGCCATGGATGCAGCCA	0.502000													40	22					0	0	1	0	0
DNALI1	7802	broad.mit.edu	37	1	38025047	38025047	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:38025047G>A	ENST00000296218.7	+	3	423	c.413G>A	c.(412-414)aGg>aAg	p.R138K	DNALI1_ENST00000541606.1_Intron	NM_003462.3	NP_003453.2	O14645	IDLC_HUMAN	dynein, axonemal, light intermediate chain 1	116					cellular component movement|single fertilization	axonemal dynein complex	microtubule motor activity			breast(1)|kidney(1)|large_intestine(2)|ovary(1)	5		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CGGCAGGCCAGGGAAACAGGC	0.592000													13	23					0	0	1	0	0
CEP250	11190	broad.mit.edu	37	20	34081376	34081376	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr20:34081376G>A	ENST00000397527.1	+	23	3730	c.3010G>A	c.(3010-3012)Gat>Aat	p.D1004N	CEP250_ENST00000342580.4_Missense_Mutation_p.D948N	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	1004	Gln/Glu-rich.				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			CCTGCTGCAGGATAAGATGGA	0.612000													11	14					0	0	1	0	0
SLC17A8	246213	broad.mit.edu	37	12	100811847	100811847	+	Silent	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr12:100811847C>T	ENST00000323346.5	+	11	1651	c.1338C>T	c.(1336-1338)gcC>gcT	p.A446A	SLC17A8_ENST00000392989.3_Silent_p.A396A|SLC17A8_ENST00000552697.1_3'UTR	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	446					neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						CACGCTATGCCAGCATTCTCA	0.478000													52	80					0	0	1	0	0
SUN1	23353	broad.mit.edu	37	7	899919	899919	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr7:899919G>A	ENST00000456758.2	+	20	2246	c.2246G>A	c.(2245-2247)cGg>cAg	p.R749Q	SUN1_ENST00000405266.1_Missense_Mutation_p.R597Q|SUN1_ENST00000401592.1_Missense_Mutation_p.R560Q|SUN1_ENST00000389574.3_Missense_Mutation_p.R477Q|SUN1_ENST00000413514.2_Missense_Mutation_p.R358Q|SUN1_ENST00000452783.2_Missense_Mutation_p.R457Q|SUN1_ENST00000425407.2_Missense_Mutation_p.R477Q			O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1	587	SUN.				cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CAGATCCTGCGGAACGTCACC	0.597000													20	26					0	0	1	0	0
CDK8	1024	broad.mit.edu	37	13	26923280	26923280	+	Silent	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr13:26923280G>A	ENST00000381527.3	+	3	779	c.276G>A	c.(274-276)aaG>aaA	p.K92K	CDK8_ENST00000536792.1_Silent_p.K92K	NM_001260.1	NP_001251.1	P49336	CDK8_HUMAN	cyclin-dependent kinase 8	92	Protein kinase.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	25	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)		CTGATAGGAAGGTGTGGCTTC	0.408000													64	113					0	0	1	0	0
CLDN9	9080	broad.mit.edu	37	16	3063628	3063628	+	Silent	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr16:3063628C>T	ENST00000445369.2	+	1	1172	c.265C>T	c.(265-267)Ctg>Ttg	p.L89L		NM_020982.3	NP_066192.1	O95484	CLD9_HUMAN	claudin 9	89					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(2)|large_intestine(1)|lung(5)|prostate(2)	10						CATTGCCCTCCTGCTGGCCCT	0.657000													31	41					0	0	1	0	0
KIF22	3835	broad.mit.edu	37	16	29811295	29811295	+	Silent	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr16:29811295C>T	ENST00000561482.1	+	8	1639	c.1002C>T	c.(1000-1002)gcC>gcT	p.A334A	KIF22_ENST00000160827.4_Silent_p.A402A|KIF22_ENST00000400751.5_Silent_p.A334A|KIF22_ENST00000400750.2_5'UTR|KIF22_ENST00000569382.2_Silent_p.A334A|KIF22_ENST00000563263.1_3'UTR	NM_001256270.1	NP_001243199.1	Q14807	KIF22_HUMAN	kinesin family member 22	402					blood coagulation|DNA repair|microtubule-based movement|mitosis	cytosol|kinetochore|microtubule|nucleus	ATP binding|DNA binding|microtubule motor activity|protein binding			endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						CAAAGAGAGCCCGAGGCCCTG	0.587000													13	44					0	0	1	0	0
HAVCR1	26762	broad.mit.edu	37	5	156479517	156479517	+	Silent	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr5:156479517C>T	ENST00000339252.3	-	3	1060	c.528G>A	c.(526-528)acG>acA	p.T176T	HAVCR1_ENST00000425854.1_Silent_p.T176T|HAVCR1_ENST00000523175.1_Silent_p.T176T|HAVCR1_ENST00000522693.1_Silent_p.T176T|HAVCR1_ENST00000544197.1_Silent_p.T176T	NM_012206.2	NP_036338.2	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	171	11 X 6 AA approximate tandem repeats of V-P-T-T-T-T].|Thr-rich.				interspecies interaction between organisms	integral to membrane	receptor activity			endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCAGAACAGTCGTTGTCGTTG	0.468000													333	347					0	0	1	0	0
GPR83	10888	broad.mit.edu	37	11	94113428	94113428	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr11:94113428C>T	ENST00000243673.2	-	4	1330	c.1159G>A	c.(1159-1161)Gag>Aag	p.E387K	GPR83_ENST00000539203.2_Missense_Mutation_p.E345K	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	387						integral to membrane|plasma membrane	neuropeptide Y receptor activity			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TCATTCTTCTCTGTCCAGGCC	0.557000													22	27					0	0	1	0	0
FAM13C	220965	broad.mit.edu	37	10	61043208	61043208	+	Splice_Site	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr10:61043208C>T	ENST00000373867.3	-	7	724		c.e7-1		FAM13C_ENST00000442566.3_Silent_p.Q190Q|FAM13C_ENST00000435852.2_Splice_Site|FAM13C_ENST00000277705.6_Silent_p.Q190Q|FAM13C_ENST00000422313.2_Splice_Site|FAM13C_ENST00000373868.2_Splice_Site|FAM13C_ENST00000419214.2_Splice_Site|FAM13C_ENST00000468840.2_Splice_Site	NM_001166698.1	NP_001160170.1	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C											NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CAGCTTCTTCCTGGTTTGTTA	0.522000													46	9					0	0	1	0	0
DENND4B	9909	broad.mit.edu	37	1	153905117	153905117	+	Splice_Site	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:153905117C>T	ENST00000361217.4	-	23	4178		c.e23+1		DENND4B_ENST00000474386.1_Splice_Site	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B											NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CCAGCCCTTACCCCCATGTGC	0.632000													35	39					0	0	1	0	0
MOCS1	4337	broad.mit.edu	37	6	39874151	39874151	+	Silent	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr6:39874151C>T	ENST00000308559.7	-	10	1978	c.1845G>A	c.(1843-1845)ggG>ggA	p.G615G	MOCS1_ENST00000340692.5_Silent_p.G631G|MOCS1_ENST00000373188.2_3'UTR|MOCS1_ENST00000373175.4_3'UTR|MOCS1_ENST00000373186.4_3'UTR|MOCS1_ENST00000425303.2_Silent_p.G631G|MOCS1_ENST00000373195.3_Silent_p.G528G			Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis 1	631	Molybdenum cofactor biosynthesis protein C.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					GATGGAAGTCCCCCCGCTGAC	0.587000													96	109					0	0	1	0	0
KCNJ5	3762	broad.mit.edu	37	11	128781800	128781800	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr11:128781800G>A	ENST00000529694.1	+	2	1008	c.632G>A	c.(631-633)cGg>cAg	p.R211Q	KCNJ5_ENST00000533599.1_Missense_Mutation_p.R211Q|KCNJ5_ENST00000338350.4_Missense_Mutation_p.R211Q	NM_000890.3	NP_000881.3	P48544	IRK5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	211					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	ATCTCCATGCGGGACGAGAAG	0.587000													31	38					0	0	1	0	0
DIRC2	84925	broad.mit.edu	37	3	122591385	122591385	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr3:122591385C>T	ENST00000261038.5	+	8	1660	c.1262C>T	c.(1261-1263)aCt>aTt	p.T421I		NM_032839.2	NP_116228.1	Q96SL1	DIRC2_HUMAN	disrupted in renal carcinoma 2	421					transport	integral to membrane				endometrium(2)|large_intestine(1)|lung(14)|prostate(1)	18				GBM - Glioblastoma multiforme(114;0.0614)		GGAGTTGTCACTTTTTTAAGT	0.323000													22	20					0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123844359	123844359	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr10:123844359C>T	ENST00000369005.1	+	4	2684	c.2344C>T	c.(2344-2346)Ccc>Tcc	p.P782S	TACC2_ENST00000515273.1_Missense_Mutation_p.P782S|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515603.1_Missense_Mutation_p.P782S|TACC2_ENST00000334433.3_Missense_Mutation_p.P782S|TACC2_ENST00000453444.2_Missense_Mutation_p.P782S	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	782						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GCCACATCCCCCCCAGGGGGA	0.632000													47	9					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215987181	215987181	+	Silent	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:215987181G>A	ENST00000366943.2	-	49	10022	c.9636C>T	c.(9634-9636)atC>atT	p.I3212I	USH2A_ENST00000307340.3_Silent_p.I3212I			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3212					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GAACAAACGGGATATACTTTT	0.418000										HNSCC(13;0.011)			39	30					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10468714	10468714	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr8:10468714G>A	ENST00000382483.3	-	4	3117	c.2894C>T	c.(2893-2895)cCa>cTa	p.P965L		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	965					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GGGCTCTTCTGGAATGTTGTC	0.642000													37	51					0	0	1	0	0
FFAR3	2865	broad.mit.edu	37	19	35849900	35849900	+	Silent	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr19:35849900G>A	ENST00000327809.4	+	2	309	c.108G>A	c.(106-108)ctG>ctA	p.L36L	FFAR3_ENST00000594310.1_Silent_p.L36L	NM_005304.3	NP_005295.1	O14843	FFAR3_HUMAN	free fatty acid receptor 3	36						integral to plasma membrane	G-protein coupled receptor activity|lipid binding			endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			TGCTGGCCCTGGTGGTCTTCG	0.647000													49	169					0	0	1	0	0
SLC5A1	6523	broad.mit.edu	37	22	32498182	32498182	+	Silent	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr22:32498182C>T	ENST00000266088.4	+	13	1873	c.1623C>T	c.(1621-1623)atC>atT	p.I541I	SLC5A1_ENST00000543737.1_Silent_p.I414I	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	541					carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						TCATCACCATCGTGGTCATCT	0.488000													71	133					0	0	1	0	0
FAM47A	158724	broad.mit.edu	37	X	34148905	34148905	+	Silent	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chrX:34148905C>T	ENST00000346193.3	-	1	1542	c.1491G>A	c.(1489-1491)aaG>aaA	p.K497K		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	497			Missing.							NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TCCGACGAGTCTTGGGAGGCT	0.657000													42	5					0	0	1	0	0
PRAMEF4	400735	broad.mit.edu	37	1	12943102	12943102	+	Silent	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:12943102G>A	ENST00000235349.5	-	2	184	c.114C>T	c.(112-114)ttC>ttT	p.F38F		NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN	PRAME family member 4	38										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ACAGTGGGGGGAAAAGTTCTG	0.627000													50	71					0	0	1	0	0
TRIM13	10206	broad.mit.edu	37	13	50587148	50587148	+	Silent	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr13:50587148C>T	ENST00000378182.3	+	2	1810	c.1072C>T	c.(1072-1074)Ctg>Ttg	p.L358L	TRIM13_ENST00000356017.4_Silent_p.L361L|TRIM13_ENST00000457662.2_Silent_p.L358L|TRIM13_ENST00000298772.5_Silent_p.L361L|TRIM13_ENST00000478111.1_Intron|TRIM13_ENST00000420995.2_Silent_p.L358L	NM_001007278.1|NM_005798.3|NM_052811.2|NM_213590.1	NP_001007279.1|NP_005789.2|NP_434698.1|NP_998755.1	O60858	TRI13_HUMAN	tripartite motif containing 13	358					anatomical structure morphogenesis|ER-associated protein catabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination	cytoplasm|endoplasmic reticulum membrane|integral to membrane	protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(5)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.53e-10)|COAD - Colon adenocarcinoma(199;0.205)		CAGTTCCTATCTGACTAAAAC	0.373000													36	41					0	0	1	0	0
C9orf24	84688	broad.mit.edu	37	9	34397532	34397532	+	Silent	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr9:34397532G>A	ENST00000297623.2	-	1	298	c.100C>T	c.(100-102)Ctg>Ttg	p.L34L		NM_032596.3	NP_115985.2	Q8NCR6	CI024_HUMAN	chromosome 9 open reading frame 24	34										endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	5			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.123)		CAGGCACACAGGGGTGGGTCC	0.567000													66	6					0	0	1	0	0
TGFA	7039	broad.mit.edu	37	2	70683516	70683516	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr2:70683516G>A	ENST00000295400.6	-	4	567	c.320C>T	c.(319-321)tCc>tTc	p.S107F	TGFA_ENST00000460808.1_5'UTR|TGFA_ENST00000450929.1_Missense_Mutation_p.S112F|TGFA_ENST00000418333.2_Missense_Mutation_p.S106F|TGFA_ENST00000445399.1_Missense_Mutation_p.S106F|TGFA_ENST00000444975.1_Missense_Mutation_p.S113F	NM_001099691.2|NM_003236.3	NP_001093161.1|NP_003227.1	P01135	TGFA_HUMAN	transforming growth factor, alpha	107					activation of MAPK activity|cell proliferation|positive regulation of cell division|positive regulation of epidermal growth factor receptor activity|positive regulation of epithelial cell proliferation|positive regulation of mitosis	cell surface|extracellular space|integral to membrane|plasma membrane	epidermal growth factor receptor binding|growth factor activity|MAP kinase kinase activity|signal transducer activity			haematopoietic_and_lymphoid_tissue(1)|lung(2)|prostate(1)	4						GGCCACGATGGAGACCACCAC	0.612000													3	4					0	0	1	0	0
IGKV2-24	28923	broad.mit.edu	37	2	89476122	89476122	+	RNA	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr2:89476122C>T	ENST00000484817.1	-	0	79																											CCCACTGGATCCTGAAATAAT	0.408000													44	60					0	0	1	0	0
LRP4	4038	broad.mit.edu	37	11	46911653	46911653	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr11:46911653G>A	ENST00000378623.1	-	15	2176	c.1934C>T	c.(1933-1935)gCc>gTc	p.A645V		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	645					endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CACTGTGATGGCGAAGGGATG	0.547000											OREG0020948	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	54	86					0	0	1	0	0
FLT4	2324	broad.mit.edu	37	5	180047230	180047230	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr5:180047230C>T	ENST00000261937.6	-	17	2563	c.2485G>A	c.(2485-2487)Gaa>Aaa	p.E829K	FLT4_ENST00000502649.1_Missense_Mutation_p.E829K|FLT4_ENST00000393347.3_Missense_Mutation_p.E829K	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	829					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	GACAGGTATTCGCATTGCTCC	0.662000													69	86					0	0	1	0	0
ATP2A1	487	broad.mit.edu	37	16	28914167	28914167	+	Silent	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr16:28914167C>T	ENST00000395503.4	+	19	2863	c.2679C>T	c.(2677-2679)gcC>gcT	p.A893A	ATP2A1_ENST00000536376.1_Silent_p.A768A|ATP2A1_ENST00000357084.3_Silent_p.A893A	NM_004320.4	NP_004311.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	893					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						TCTTCGAGGCCCCCGAGCCCA	0.617000													18	25					0	0	1	0	0
SLC26A4	5172	broad.mit.edu	37	7	107329538	107329538	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr7:107329538G>A	ENST00000265715.3	+	9	1266	c.1042G>A	c.(1042-1044)Gag>Aag	p.E348K		NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	348					regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity	p.E348K(1)		central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						CTTGTTCTCGGAGATGCTGGC	0.443000									Pendred syndrome				44	72					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				26	36					0	0	1	0	0
KIAA1549	57670	broad.mit.edu	37	7	138601678	138601678	+	Silent	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr7:138601678G>A	ENST00000440172.1	-	2	2742	c.2694C>T	c.(2692-2694)tcC>tcT	p.S898S	KIAA1549_ENST00000242365.4_Silent_p.S848S|KIAA1549_ENST00000422774.1_Silent_p.S898S	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	898						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						CCATCAGGGTGGAGTCGAGGG	0.632000			O	BRAF	pilocytic astrocytoma								13	17					0	0	1	0	0
TTLL8	164714	broad.mit.edu	37	22	50472774	50472774	+	Splice_Site	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr22:50472774C>T	ENST00000266182.6	-	9	1038	c.1039_splice	c.e9+1	p.D347_splice	TTLL8_ENST00000440475.1_Intron					tubulin tyrosine ligase-like family, member 8											NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)		GCATCCGCACCAGGGGACTCA	0.612000													10	19					0	0	1	0	0
TLR10	81793	broad.mit.edu	37	4	38775831	38775831	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr4:38775831C>T	ENST00000308973.4	-	4	1986	c.1381G>A	c.(1381-1383)Gag>Aag	p.E461K	TLR10_ENST00000508334.1_Missense_Mutation_p.E461K|TLR10_ENST00000506111.1_Missense_Mutation_p.E461K|TLR10_ENST00000361424.2_Missense_Mutation_p.E461K	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	461					inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						TGAATAGTCTCTTTAGGTACA	0.348000													33	38					0	0	1	0	0
KCNJ2	3759	broad.mit.edu	37	17	68171981	68171981	+	Silent	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr17:68171981C>T	ENST00000243457.3	+	2	1184	c.801C>T	c.(799-801)atC>atT	p.I267I	KCNJ2_ENST00000535240.1_Silent_p.I267I	NM_000891.2	NP_000882.1	P63252	IRK2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	267					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					TGTCCCCAATCACTATAGTCC	0.403000													25	37					0	0	1	0	0
ABCC3	8714	broad.mit.edu	37	17	48741464	48741464	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr17:48741464C>T	ENST00000285238.8	+	10	1410	c.1330C>T	c.(1330-1332)Ctc>Ttc	p.L444F	ABCC3_ENST00000427699.1_Missense_Mutation_p.L444F	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	444	ABC transmembrane type-1 1.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	GATCTACTTCCTCTGGCAGGT	0.557000													63	71					0	0	1	0	0
NCR3	259197	broad.mit.edu	37	6	31560469	31560469	+	Silent	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr6:31560469G>A	ENST00000376073.4	-	1	293	c.30C>T	c.(28-30)atC>atT	p.I10I	NCR3_ENST00000340027.5_Silent_p.I10I|NCR3_ENST00000376071.4_Silent_p.I10I|NCR3_ENST00000376072.3_Silent_p.I10I|NCR3_ENST00000491161.1_Intron	NM_001145466.1	NP_001138938.1	O14931	NCTR3_HUMAN	natural cytotoxicity triggering receptor 3	10					cell recognition|immune response|inflammatory response|positive regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane	receptor activity			cervix(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|skin(2)	9						GATGGACCATGATCAAGATGA	0.587000													31	50					0	0	1	0	0
OR5V1	81696	broad.mit.edu	37	6	29323851	29323851	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr6:29323851C>T	ENST00000377154.1	-	4	421	c.122G>A	c.(121-123)gGa>gAa	p.G41E	OR5V1_ENST00000543825.1_Missense_Mutation_p.G41E			Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V, member 1	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TAATATATTTCCTCCCAAAGT	0.363000													33	34					0	0	1	0	0
ATP2B2	491	broad.mit.edu	37	3	10430008	10430008	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr3:10430008G>A	ENST00000397077.1	-	8	1435	c.860C>T	c.(859-861)aCc>aTc	p.T287I	ATP2B2_ENST00000383800.4_Missense_Mutation_p.T287I|ATP2B2_ENST00000352432.4_Missense_Mutation_p.T287I|ATP2B2_ENST00000343816.4_Missense_Mutation_p.T287I|ATP2B2_ENST00000360273.2_Missense_Mutation_p.T287I			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	287					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CCCCAGGAGGGTAAAGATGAT	0.522000													115	150					0	0	1	0	0
SF3B2	10992	broad.mit.edu	37	11	65826342	65826342	+	Silent	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr11:65826342C>T	ENST00000528302.1	+	9	1011	c.957C>T	c.(955-957)ccC>ccT	p.P319P	SF3B2_ENST00000322535.6_Silent_p.P336P			Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	336					interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						AGAAAAAGCCCCAGCGGGTGC	0.572000													14	21					0	0	1	0	0
SLC7A7	9056	broad.mit.edu	37	14	23282555	23282555	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr14:23282555G>A	ENST00000397532.3	-	2	578	c.53C>T	c.(52-54)tCc>tTc	p.S18F	SLC7A7_ENST00000555702.1_Missense_Mutation_p.S18F|SLC7A7_ENST00000554517.1_Intron|SLC7A7_ENST00000397528.4_Missense_Mutation_p.S18F|SLC7A7_ENST00000397529.2_Missense_Mutation_p.S18F|SLC7A7_ENST00000285850.7_Missense_Mutation_p.S18F			Q9UM01	YLAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 7	18					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.00741)		ACCCAAAGGGGAGGTTTCCAC	0.567000													36	54					0	0	1	0	0
NLRP1	22861	broad.mit.edu	37	17	5425071	5425071	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr17:5425071G>A	ENST00000345221.3	-	13	4110	c.3556C>T	c.(3556-3558)Cac>Tac	p.H1186Y	NLRP1_ENST00000269280.4_Missense_Mutation_p.H1186Y|NLRP1_ENST00000262467.5_Missense_Mutation_p.H1190Y|NLRP1_ENST00000577119.1_Missense_Mutation_p.H1156Y|NLRP1_ENST00000572272.1_Missense_Mutation_p.H1186Y|NLRP1_ENST00000354411.3_Missense_Mutation_p.H1156Y	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	1186					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				TCTTTAAAGTGGGCCATTTGG	0.483000													39	35					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196801363	196801363	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr2:196801363C>T	ENST00000312428.6	-	20	3332	c.3232G>A	c.(3232-3234)Gaa>Aaa	p.E1078K		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1078	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TCAAGAAGTTCATCATTGGAC	0.299000													8	12					0	0	1	0	0
OR52E4	390081	broad.mit.edu	37	11	5905982	5905982	+	Missense_Mutation	SNP	A	A	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr11:5905982A>T	ENST00000316987.2	+	1	482	c.460A>T	c.(460-462)Aat>Tat	p.N154Y		NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E, member 4	154					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGTTGGAAGAAATTTAGTTCT	0.468000													47	51					0	0	1	0	0
OXER1	165140	broad.mit.edu	37	2	42990231	42990231	+	Silent	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr2:42990231G>A	ENST00000378661.2	-	1	1170	c.1089C>T	c.(1087-1089)ctC>ctT	p.L363L		NM_148962.4	NP_683765.1	Q8TDS5	OXER1_HUMAN	oxoeicosanoid (OXE) receptor 1	363					regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding|G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10						GGCTCTGGTGGAGGAAGTTGG	0.657000													9	16					0	0	1	0	0
BCRP7	100133163	broad.mit.edu	37	22	18846098	18846098	+	RNA	SNP	G	G	A	rs9306211		TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr22:18846098G>A	ENST00000412938.1	+	0	3456																											ATGCCTCGGCGCTCGATCTCC	0.622000													4	48					0	0	1	0	0
ACLY	47	broad.mit.edu	37	17	40043946	40043946	+	Missense_Mutation	SNP	A	A	C			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr17:40043946A>C	ENST00000352035.2	-	17	1911	c.1781T>G	c.(1780-1782)aTc>aGc	p.I594S	ACLY_ENST00000590151.1_Missense_Mutation_p.I594S|ACLY_ENST00000537919.1_Missense_Mutation_p.I323S|ACLY_ENST00000393896.2_Missense_Mutation_p.I584S|ACLY_ENST00000353196.1_Missense_Mutation_p.I584S	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	594					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				TATGATGGCGATGGTCCGGAT	0.547000													21	34					0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102508460	102508460	+	Splice_Site	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr14:102508460C>T	ENST00000360184.4	+	66	12377	c.12214_splice	c.e66+1	p.I4071_splice	RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557551.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	4071	AAA 6 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CAATTGCAATCGGTAAGGATG	0.537000													23	26					0	0	1	0	0
CCDC181	57821	broad.mit.edu	37	1	169390724	169390724	+	Silent	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:169390724C>T	ENST00000545005.1	-	4	1452	c.945G>A	c.(943-945)ggG>ggA	p.G315G	CCDC181_ENST00000367805.3_Silent_p.G315G|CCDC181_ENST00000367806.3_Silent_p.G315G|CCDC181_ENST00000491570.1_5'UTR					coiled-coil domain containing 181																		GATTAGATTTCCCATTCCCTT	0.458000													78	59					0	0	1	0	0
TRIM62	55223	broad.mit.edu	37	1	33625512	33625512	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:33625512C>T	ENST00000291416.5	-	3	771	c.538G>A	c.(538-540)Gag>Aag	p.E180K	TRIM62_ENST00000543586.1_Missense_Mutation_p.E59K|TRIM62_ENST00000485148.1_5'UTR	NM_018207.2	NP_060677.2	Q9BVG3	TRI62_HUMAN	tripartite motif containing 62	180						intracellular	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)				TCGAAGGCCTCGCCGATAGTG	0.652000													12	23					0	0	1	0	0
ZNF91	7644	broad.mit.edu	37	19	23544867	23544867	+	Missense_Mutation	SNP	T	T	C			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr19:23544867T>C	ENST00000300619.7	-	4	1119	c.914A>G	c.(913-915)cAt>cGt	p.H305R	ZNF91_ENST00000397082.2_Missense_Mutation_p.H273R|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	305						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				GGTTGAAGAATGGCTAAAAGC	0.413000													4	91					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13864539	13864539	+	Silent	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr5:13864539C>T	ENST00000265104.4	-	28	4667	c.4563G>A	c.(4561-4563)gaG>gaA	p.E1521E	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1521	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GAAGAGGTGCCTCCATGATAT	0.408000									Kartagener syndrome				18	23					0	0	1	0	0
RAB11FIP1	80223	broad.mit.edu	37	8	37729818	37729818	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr8:37729818A>T	ENST00000330843.4	-	4	2514	c.2502T>A	c.(2500-2502)tgT>tgA	p.C834*	RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000287263.4_Intron|RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000523182.1_5'UTR	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	834					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			GCTCCTGGGGACAACTGCTGT	0.572000													41	36					0	0	1	0	0
ENTHD1	150350	broad.mit.edu	37	22	40257788	40257788	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr22:40257788C>T	ENST00000325157.6	-	3	824	c.574G>A	c.(574-576)Gga>Aga	p.G192R		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	192										breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					TGTAACCTTCCAAACTTAGGA	0.333000													20	18					0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24790364	24790364	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr10:24790364C>T	ENST00000376451.2	+	4	1200	c.940C>T	c.(940-942)Ccc>Tcc	p.P314S	KIAA1217_ENST00000376452.3_Missense_Mutation_p.P596S|KIAA1217_ENST00000376454.3_Missense_Mutation_p.P631S|KIAA1217_ENST00000430453.2_Missense_Mutation_p.P517S|KIAA1217_ENST00000458595.1_Missense_Mutation_p.P596S|KIAA1217_ENST00000307544.6_Missense_Mutation_p.P314S|KIAA1217_ENST00000396445.1_Missense_Mutation_p.P314S|KIAA1217_ENST00000396446.1_Missense_Mutation_p.P314S|KIAA1217_ENST00000376462.1_Missense_Mutation_p.P551S			Q5T5P2	SKT_HUMAN	KIAA1217	631	Pro-rich.				embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CACGGTGCCTCCCAGCCAGCC	0.592000													22	7					0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79320019	79320019	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr9:79320019G>A	ENST00000428286.1	-	8	7294	c.6094C>T	c.(6094-6096)Ccg>Tcg	p.P2032S	PRUNE2_ENST00000376718.3_Missense_Mutation_p.P2391S			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2391					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GGTGTGTACGGTGCCAGCGAC	0.498000													41	9					0	0	1	0	0
SASH3	54440	broad.mit.edu	37	X	128926698	128926698	+	Silent	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chrX:128926698G>A	ENST00000356892.3	+	6	801	c.687G>A	c.(685-687)gtG>gtA	p.V229V		NM_018990.3	NP_061863.1	O75995	SASH3_HUMAN	SAM and SH3 domain containing 3	229	SH3.									breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	12						TCATCTATGTGGATGTGCTGC	0.587000													22	1					0	0	1	0	0
RGS22	26166	broad.mit.edu	37	8	101076098	101076098	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr8:101076098C>T	ENST00000360863.6	-	8	1092	c.898G>A	c.(898-900)Gat>Aat	p.D300N	RGS22_ENST00000523287.1_Missense_Mutation_p.D119N|RGS22_ENST00000523437.1_Missense_Mutation_p.D288N	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	300					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			TCATCAACATCCTGTTTCTTT	0.363000													14	21					0	0	1	0	0
EPS8L1	54869	broad.mit.edu	37	19	55594840	55594840	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr19:55594840G>A	ENST00000201647.6	+	13	1365	c.1309G>A	c.(1309-1311)Gag>Aag	p.E437K	EPS8L1_ENST00000586329.1_Missense_Mutation_p.E419K|EPS8L1_ENST00000592824.1_3'UTR|EPS8L1_ENST00000540810.1_Missense_Mutation_p.E373K|EPS8L1_ENST00000245618.5_Missense_Mutation_p.E310K|EPS8L1_ENST00000588359.1_Missense_Mutation_p.E91K	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	EPS8-like 1	437						cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		CCGCGCCTGGGAGGACCCAGT	0.711000													5	14					0	0	1	0	0
BCL11B	64919	broad.mit.edu	37	14	99641932	99641932	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr14:99641932G>A	ENST00000345514.2	-	3	1294	c.1028C>T	c.(1027-1029)cCt>cTt	p.P343L	BCL11B_ENST00000443726.2_Missense_Mutation_p.P220L|BCL11B_ENST00000357195.3_Missense_Mutation_p.P414L	NM_022898.1	NP_075049.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	414						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		CGTGCCGCCAGGGGGCATGGG	0.701000			T	TLX3	T-ALL								7	3					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158587365	158587365	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:158587365C>T	ENST00000368148.3	-	47	6742	c.6562G>A	c.(6562-6564)Gaa>Aaa	p.E2188K	SPTA1_ENST00000368147.3_Missense_Mutation_p.E2185K	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	2188					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.E2188K(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GTTCCTGTTTCTTTGAGCAAT	0.338000													19	12					0	0	1	0	0
NBR1	4077	broad.mit.edu	37	17	41345501	41345501	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr17:41345501C>T	ENST00000422280.1	+	12	1829	c.1370C>T	c.(1369-1371)tCc>tTc	p.S457F	NBR1_ENST00000389312.4_Missense_Mutation_p.S457F|NBR1_ENST00000590996.1_Missense_Mutation_p.S457F|NBR1_ENST00000589872.1_Missense_Mutation_p.S457F|NBR1_ENST00000341165.6_Missense_Mutation_p.S457F|NBR1_ENST00000542611.1_Missense_Mutation_p.S436F	NM_031858.2	NP_114064.1	Q14596	NBR1_HUMAN	neighbor of BRCA1 gene 1	457					macroautophagy|protein oligomerization	autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere	ubiquitin binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	24		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)		ACGTATACTTCCCATTGGCGT	0.512000													9	13					0	0	1	0	0
CD6	923	broad.mit.edu	37	11	60786761	60786761	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr11:60786761G>A	ENST00000313421.7	+	13	2164	c.1978G>A	c.(1978-1980)Gat>Aat	p.D660N	CD6_ENST00000452451.2_Missense_Mutation_p.D584N|CD6_ENST00000352009.5_Missense_Mutation_p.D593N|CD6_ENST00000346437.4_Missense_Mutation_p.D587N|CD6_ENST00000344028.5_Missense_Mutation_p.D628N	NM_006725.4	NP_006716.3	P30203	CD6_HUMAN	CD6 molecule	660					cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						CACCGACAACGATGACTACGA	0.652000													23	23					0	0	1	0	0
IDO2	169355	broad.mit.edu	37	8	39845390	39845390	+	Splice_Site	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr8:39845390G>A	ENST00000502986.2	+	7	731	c.488_splice	c.e7-1	p.G163_splice	RP11-44K6.3_ENST00000517623.1_RNA|IDO2_ENST00000389060.4_Splice_Site_p.G150_splice|IDO2_ENST00000343295.4_3'UTR	NM_194294.2	NP_919270.2	Q6ZQW0	I23O2_HUMAN	indoleamine 2,3-dioxygenase 2	150					tryptophan catabolic process to kynurenine	cytosol	heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity	p.G163G(1)|p.G150G(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						CCTTCCCAAGGAACCTGGAGA	0.512000													6	9					0	0	1	0	0
NEK8	284086	broad.mit.edu	37	17	27065145	27065145	+	Silent	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr17:27065145C>T	ENST00000268766.6	+	8	1138	c.1104C>T	c.(1102-1104)ctC>ctT	p.L368L	AC010761.6_ENST00000584779.1_RNA	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	368						cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					GAGGCAGTCTCCTTCCTGGGG	0.672000													6	8					0	0	1	0	0
ATG2A	23130	broad.mit.edu	37	11	64665771	64665771	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr11:64665771G>A	ENST00000421419.2	-	33	4855	c.4741C>T	c.(4741-4743)Cgc>Tgc	p.R1581C	ATG2A_ENST00000377264.3_Missense_Mutation_p.R1579C			Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1579							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						AGCGAGACGCGGAGACAGCAC	0.632000											OREG0004029	type=REGULATORY REGION|Gene=BC033850|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	14	11					0	0	1	0	0
RNF32	140545	broad.mit.edu	37	7	156451211	156451211	+	Missense_Mutation	SNP	A	A	C			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr7:156451211A>C	ENST00000392741.2	+	6	719	c.631A>C	c.(631-633)Aaa>Caa	p.K211Q	RNF32_ENST00000317955.5_Missense_Mutation_p.K211Q|RNF32_ENST00000480011.1_3'UTR|RNF32_ENST00000311822.8_Missense_Mutation_p.K211Q|RNF32_ENST00000405335.1_Missense_Mutation_p.K211Q|RNF32_ENST00000392743.2_Missense_Mutation_p.K211Q|RNF32_ENST00000432459.2_Missense_Mutation_p.K211Q|RNF32_ENST00000343665.4_Missense_Mutation_p.K187Q			Q9H0A6	RNF32_HUMAN	ring finger protein 32	211	IQ.					aggresome|endosome	protein binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		AAACCTGAGGAAAACAGTACC	0.373000													28	40					0	0	1	0	0
FAM161B	145483	broad.mit.edu	37	14	74402747	74402747	+	Silent	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr14:74402747C>T	ENST00000286544.3	-	8	2097	c.1899G>A	c.(1897-1899)ctG>ctA	p.L633L	RP5-1021I20.5_ENST00000555916.1_RNA|FAM161B_ENST00000534936.1_Silent_p.L570L	NM_152445.2	NP_689658.2			family with sequence similarity 161, member B											breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)	21						CAGCCTGCTTCAGGGTGTCTA	0.453000													56	73					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2796226	2796226	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr8:2796226C>T	ENST00000520002.1	-	71	11134	c.10579G>A	c.(10579-10581)Gaa>Aaa	p.E3527K	CSMD1_ENST00000602723.1_Missense_Mutation_p.E3350K|CSMD1_ENST00000400186.3_Missense_Mutation_p.E3350K|CSMD1_ENST00000602557.1_Missense_Mutation_p.E3527K|CSMD1_ENST00000542608.1_Missense_Mutation_p.E3349K|CSMD1_ENST00000537824.1_Missense_Mutation_p.E3526K			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3527						integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TTGCTGTTTTCATGCCCAGCA	0.403000													6	11					0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	32613978	32613978	+	Silent	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chrX:32613978G>A	ENST00000357033.4	-	13	1704	c.1498C>T	c.(1498-1500)Cta>Tta	p.L500L	DMD_ENST00000378677.2_Silent_p.L496L|DMD_ENST00000288447.4_Silent_p.L492L	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	500			Missing (in BMD).		muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TCTTGTTCTAGATCTTCTTGA	0.358000													20	3					0	0	1	0	0
LYST	1130	broad.mit.edu	37	1	235866216	235866216	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:235866216G>A	ENST00000389794.3	-	45	10379	c.10205C>T	c.(10204-10206)aCc>aTc	p.T3402I	LYST_ENST00000389793.2_Missense_Mutation_p.T3402I|LYST_ENST00000473037.1_5'UTR			Q99698	LYST_HUMAN	lysosomal trafficking regulator	3402	BEACH.				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TTTTATCATGGTTTCTAGCGC	0.473000													139	121					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32029944	32029944	+	Silent	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr6:32029944G>A	ENST00000375244.3	-	20	7359	c.7158C>T	c.(7156-7158)atC>atT	p.I2386I	TNXB_ENST00000375247.2_Silent_p.I2386I			P22105	TENX_HUMAN	tenascin XB	2448	Fibronectin type-III 16.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CTGTCACCCCGATGGCAGACA	0.627000													16	24					0	0	1	0	0
GABRB3	2562	broad.mit.edu	37	15	26825509	26825509	+	Silent	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr15:26825509G>A	ENST00000541819.2	-	7	909	c.807C>T	c.(805-807)atC>atT	p.I269I	GABRB3_ENST00000400188.3_Silent_p.I142I|GABRB3_ENST00000299267.4_Silent_p.I213I|GABRB3_ENST00000545868.1_Silent_p.I128I|GABRB3_ENST00000311550.5_Silent_p.I213I			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	213					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	GGTGCTCCACGATGGAGAACT	0.567000													42	66					0	0	1	0	0
MOV10L1	54456	broad.mit.edu	37	22	50552817	50552817	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr22:50552817G>A	ENST00000262794.5	+	7	975	c.892G>A	c.(892-894)Gga>Aga	p.G298R	MOV10L1_ENST00000395858.3_Missense_Mutation_p.G298R|MOV10L1_ENST00000545383.1_Missense_Mutation_p.G298R|MOV10L1_ENST00000540615.1_Missense_Mutation_p.G278R|MOV10L1_ENST00000395843.1_5'UTR	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)	298					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		CAGGAATAAAGGAGACATTCC	0.368000													14	21					0	0	1	0	0
ZDHHC23	254887	broad.mit.edu	37	3	113673215	113673215	+	Missense_Mutation	SNP	T	T	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr3:113673215T>A	ENST00000330212.3	+	3	1129	c.830T>A	c.(829-831)aTa>aAa	p.I277K	ZDHHC23_ENST00000498275.1_Missense_Mutation_p.I271K	NM_173570.3	NP_775841.2	Q8IYP9	ZDH23_HUMAN	zinc finger, DHHC-type containing 23	277						integral to membrane	acyltransferase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|urinary_tract(2)	16						CACTGCCGGATATGTGGCATC	0.512000													11	9					0	0	1	0	0
ZNF454	285676	broad.mit.edu	37	5	178392632	178392632	+	Silent	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr5:178392632G>A	ENST00000320129.3	+	5	1530	c.1227G>A	c.(1225-1227)gaG>gaA	p.E409E	ZNF454_ENST00000519564.1_Silent_p.E409E	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	409					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		ACACTGGAGAGAAACCTTACA	0.408000													35	49					0	0	1	0	0
IFNA14	3448	broad.mit.edu	37	9	21239926	21239926	+	Silent	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr9:21239926C>T	ENST00000380222.2	-	1	52	c.9G>A	c.(7-9)ttG>ttA	p.L3L		NM_002172.2	NP_002163.2	P01570	IFN14_HUMAN	interferon, alpha 14	3					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)	11				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		AAGCAAAGGGCAATGCCATTG	0.512000													47	15					0	0	1	0	0
MUT	4594	broad.mit.edu	37	6	49419407	49419407	+	Silent	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr6:49419407G>A	ENST00000274813.3	-	6	1231	c.1104C>T	c.(1102-1104)gtC>gtT	p.V368V		NM_000255.3	NP_000246.2	P22033	MUTA_HUMAN	methylmalonyl CoA mutase	368			V -> D (in MMAM).		fatty acid beta-oxidation	mitochondrial matrix	cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTGCAGTACGGACAATATTAT	0.348000													11	20					0	0	1	0	0
FARP1	10160	broad.mit.edu	37	13	99017671	99017671	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr13:99017671C>T	ENST00000376586.2	+	4	635	c.299C>T	c.(298-300)cCc>cTc	p.P100L	FARP1_ENST00000595437.1_Missense_Mutation_p.P100L|FARP1_ENST00000319562.6_Missense_Mutation_p.P100L			Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	100	FERM.				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			CTCCTAAAACCCATTGTGAAA	0.368000													21	44					0	0	1	0	0
AFF1	4299	broad.mit.edu	37	4	88035745	88035745	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr4:88035745C>T	ENST00000307808.6	+	11	2159	c.1739C>T	c.(1738-1740)cCc>cTc	p.P580L	AFF1_ENST00000395146.4_Missense_Mutation_p.P587L|AFF1_ENST00000544085.1_Missense_Mutation_p.P218L	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	580						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		GCCCCCCACCCCGGAAAGAGG	0.597000													14	12					0	0	1	0	0
WASF1	8936	broad.mit.edu	37	6	110422958	110422958	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr6:110422958G>A	ENST00000392589.1	-	10	2191	c.1355C>T	c.(1354-1356)cCc>cTc	p.P452L	WASF1_ENST00000359451.2_Missense_Mutation_p.P452L|WASF1_ENST00000392587.2_Missense_Mutation_p.P452L|WASF1_ENST00000392588.1_Missense_Mutation_p.P452L|WASF1_ENST00000392586.1_Missense_Mutation_p.P452L	NM_003931.2	NP_003922.1	Q92558	WASF1_HUMAN	WAS protein family, member 1	452					actin filament polymerization|cellular component movement	actin cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687)		TAGCCCAGAGGGAGGATGAGC	0.557000													52	84					0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73538035	73538035	+	Silent	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr10:73538035C>T	ENST00000224721.6	+	39	5177	c.5172C>T	c.(5170-5172)atC>atT	p.I1724I		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1719	Cadherin 16.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						AGTGCCCCATCTTATCCCACC	0.612000													32	9					0	0	1	0	0
FHOD1	29109	broad.mit.edu	37	16	67272111	67272111	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr16:67272111G>A	ENST00000258201.4	-	5	788	c.541C>T	c.(541-543)Ctt>Ttt	p.L181F	FHOD1_ENST00000567687.1_Intron	NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	181	GBD/FH3.				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		TGACCTCTAAGGATGTAGCTC	0.612000													26	4					0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10400457	10400457	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr17:10400457C>T	ENST00000226207.5	-	33	4679	c.4585G>A	c.(4585-4587)Gaa>Aaa	p.E1529K	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1529						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TTTTCCAGTTCATGGATGCGC	0.373000													11	16					0	0	1	0	0
C12orf40	283461	broad.mit.edu	37	12	40076639	40076639	+	Missense_Mutation	SNP	A	A	G			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr12:40076639A>G	ENST00000324616.5	+	8	1067	c.913A>G	c.(913-915)Atc>Gtc	p.I305V	C12orf40_ENST00000398716.1_Missense_Mutation_p.I228V|C12orf40_ENST00000405531.3_Missense_Mutation_p.I305V	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	305										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						TCAAAATATGATCAATGTATT	0.313000													17	24					0	0	1	0	0
NHSL2	340527	broad.mit.edu	37	X	71360061	71360061	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chrX:71360061C>T	ENST00000373677.1	+	2	2827	c.1565C>T	c.(1564-1566)cCa>cTa	p.P522L	NHSL2_ENST00000540800.1_Missense_Mutation_p.P888L|NHSL2_ENST00000510661.1_Missense_Mutation_p.P657L|NHSL2_ENST00000535692.1_Missense_Mutation_p.P522L			F5H593	F5H593_HUMAN	NHS-like 2	888										NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					GTCCACAAGCCACCATCTGTT	0.547000													24	4					0	0	1	0	0
CLCA4	22802	broad.mit.edu	37	1	87031503	87031503	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:87031503G>A	ENST00000370563.3	+	6	796	c.754G>A	c.(754-756)Gaa>Aaa	p.E252K	CLCA4_ENST00000263723.5_5'UTR	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	252						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		ATTTTGTAACGAAAAAACCCA	0.269000													3	15					0	0	1	0	0
LPAR3	23566	broad.mit.edu	37	1	85279853	85279853	+	Splice_Site	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:85279853C>T	ENST00000440886.1	-	2	776	c.736_splice	c.e2-1	p.G246_splice	LPAR3_ENST00000491034.1_5'UTR|LPAR3_ENST00000370611.3_Splice_Site_p.G246_splice			Q9UBY5	LPAR3_HUMAN	lysophosphatidic acid receptor 3	246					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						CCACAAACGCCCCTGCAAGGA	0.582000													20	19					0	0	1	0	0
FSD1	79187	broad.mit.edu	37	19	4306272	4306272	+	Missense_Mutation	SNP	A	A	C			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr19:4306272A>C	ENST00000221856.6	+	3	336	c.189A>C	c.(187-189)gaA>gaC	p.E63D	FSD1_ENST00000597590.1_Missense_Mutation_p.E63D	NM_024333.2	NP_077309.1	Q9BTV5	FSD1_HUMAN	fibronectin type III and SPRY domain containing 1	63					cell division|mitosis	cleavage furrow|microtubule|microtubule organizing center|nucleus				breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCTGAAAGAAGGCATGCTTA	0.592000													44	59					0	0	1	0	0
PRKG2	5593	broad.mit.edu	37	4	82074822	82074822	+	Silent	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr4:82074822G>A	ENST00000395578.1	-	7	1082	c.966C>T	c.(964-966)acC>acT	p.T322T	PRKG2_ENST00000545647.1_5'UTR|PRKG2_ENST00000264399.1_Silent_p.T322T|PRKG2_ENST00000418486.2_Silent_p.T322T|PRKG2_ENST00000509169.1_5'UTR			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	322					platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						AAATGAAAAAGGTACTTCCTT	0.348000													26	32					0	0	1	0	0
FAM90A1	55138	broad.mit.edu	37	12	8377358	8377358	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr12:8377358C>T	ENST00000538603.1	-	4	629	c.71G>A	c.(70-72)cGg>cAg	p.R24Q	FAM90A1_ENST00000307435.6_Missense_Mutation_p.R24Q	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN	family with sequence similarity 90, member A1	24							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		TGGGGCCCTCCGCTGCTTCTG	0.627000													4	9					0	0	1	0	0
PRRG3	79057	broad.mit.edu	37	X	150869428	150869428	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chrX:150869428G>A	ENST00000370353.3	+	4	1009	c.619G>A	c.(619-621)Gag>Aag	p.E207K	PRRG3_ENST00000538575.1_Missense_Mutation_p.E207K			Q9BZD7	TMG3_HUMAN	proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane)	207						extracellular region|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3)	24	Acute lymphoblastic leukemia(192;6.56e-05)					CAGCAGTGAGGAGGCCAGCGT	0.622000													62	6					0	0	1	0	0
CD97	976	broad.mit.edu	37	19	14513431	14513431	+	Silent	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr19:14513431C>T	ENST00000242786.5	+	12	1286	c.1206C>T	c.(1204-1206)ctC>ctT	p.L402L	CD97_ENST00000357355.3_Silent_p.L353L|CD97_ENST00000358600.3_Silent_p.L309L	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	402					cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CGGGCATCCTCTCCATCCAGA	0.577000													56	76					0	0	1	0	0
KIRREL	55243	broad.mit.edu	37	1	158058232	158058232	+	Silent	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:158058232G>A	ENST00000368172.1	+	4	438	c.426G>A	c.(424-426)aaG>aaA	p.K142K	KIRREL_ENST00000360089.4_Silent_p.K180K|KIRREL_ENST00000392272.2_Silent_p.K241K|KIRREL_ENST00000416935.2_Silent_p.K244K|KIRREL_ENST00000359209.6_Silent_p.K344K|KIRREL_ENST00000368173.3_Silent_p.K344K			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	344	Ig-like C2-type 2.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					GGACCAAAAAGGACTCAAATA	0.468000													25	72					0	0	1	0	0
PTPRO	5800	broad.mit.edu	37	12	15637048	15637048	+	Silent	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr12:15637048G>A	ENST00000281171.4	+	2	546	c.216G>A	c.(214-216)gaG>gaA	p.E72E	PTPRO_ENST00000348962.2_Silent_p.E72E|PTPRO_ENST00000543886.1_Silent_p.E72E	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	72	Fibronectin type-III 1.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				TCGAATTTGAGGAATTCAACA	0.383000													21	20					0	0	1	0	0
ZDHHC23	254887	broad.mit.edu	37	3	113672889	113672889	+	Silent	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr3:113672889C>T	ENST00000330212.3	+	3	803	c.504C>T	c.(502-504)ccC>ccT	p.P168P	ZDHHC23_ENST00000498275.1_Silent_p.P162P	NM_173570.3	NP_775841.2	Q8IYP9	ZDH23_HUMAN	zinc finger, DHHC-type containing 23	168						integral to membrane	acyltransferase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|urinary_tract(2)	16						GTGTGGGTCCCGTTCAGCTGG	0.527000													69	70					0	0	1	0	0
MYH9	4627	broad.mit.edu	37	22	36680290	36680290	+	Silent	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr22:36680290G>A	ENST00000216181.5	-	40	5844	c.5614C>T	c.(5614-5616)Ctg>Ttg	p.L1872L	MYH9_ENST00000475726.1_5'UTR	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1872					actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						AGCTGCTTCAGGCGGGTAGAT	0.701000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				5	9					0	0	1	0	0
KIF1B	23095	broad.mit.edu	37	1	10363998	10363998	+	Silent	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:10363998C>T	ENST00000377093.4	+	21	2908	c.2755C>T	c.(2755-2757)Ctg>Ttg	p.L919L	KIF1B_ENST00000377081.1_Intron|KIF1B_ENST00000263934.6_Intron|KIF1B_ENST00000377083.1_Silent_p.L919L|KIF1B_ENST00000377086.1_Intron	NM_183416.3	NP_904325.2	O60333	KIF1B_HUMAN	kinesin family member 1B	0					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		ACGTGGACGTCTGCGCTGGAT	0.458000													17	23					0	0	1	0	0
RPE65	6121	broad.mit.edu	37	1	68910338	68910338	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:68910338C>T	ENST00000262340.5	-	5	424	c.371G>A	c.(370-372)cGa>cAa	p.R124Q		NM_000329.2	NP_000320.1	Q16518	RPE65_HUMAN	retinal pigment epithelium-specific protein 65kDa	124					visual perception	cytoplasm|plasma membrane	all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity	p.R124L(1)		central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						CTCTACTCCTCGAAAGTAAGA	0.363000													11	16					0	0	1	0	0
WIF1	11197	broad.mit.edu	37	12	65448919	65448919	+	Missense_Mutation	SNP	G	G	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr12:65448919G>T	ENST00000286574.4	-	9	1371	c.997C>A	c.(997-999)Cat>Aat	p.H333N		NM_007191.4	NP_009122.2	Q9Y5W5	WIF1_HUMAN	WNT inhibitory factor 1	333	EGF-like 5.				multicellular organismal development|Wnt receptor signaling pathway	extracellular region	protein tyrosine kinase activity			cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		TGTCTTCCATGCCAACCTTCT	0.413000			T	HMGA2	pleomorphic salivary gland adenoma								35	45					1.57019e-19	1.5865e-19	1	1	0
METTL16	79066	broad.mit.edu	37	17	2381097	2381097	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr17:2381097G>A	ENST00000263092.5	-	3	338	c.211C>T	c.(211-213)Cca>Tca	p.P71S	METTL16_ENST00000571669.1_5'UTR|METTL16_ENST00000538844.1_5'UTR	NM_024086.3	NP_076991.3	Q86W50	MET16_HUMAN	methyltransferase like 16	71							methyltransferase activity			kidney(2)|large_intestine(9)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	19						CTCTCCAATGGAATATCAATA	0.423000													41	55					0	0	1	0	0
BDKRB2	624	broad.mit.edu	37	14	96707571	96707571	+	Silent	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr14:96707571C>T	ENST00000542454.2	+	3	3913	c.825C>T	c.(823-825)tcC>tcT	p.S275S	RP11-404P21.8_ENST00000553811.1_Intron|BDKRB2_ENST00000306005.3_Silent_p.S302S|BDKRB2_ENST00000539359.1_Silent_p.S275S|BDKRB2_ENST00000554311.1_Silent_p.S302S			P30411	BKRB2_HUMAN	bradykinin receptor B2	302					arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway	endosome|integral to plasma membrane	bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)		GCATCCTCTCCAGCTGCCAGG	0.572000													10	42					0	0	1	0	0
PHLDB2	90102	broad.mit.edu	37	3	111603475	111603475	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr3:111603475C>T	ENST00000431670.2	+	2	962	c.551C>T	c.(550-552)tCc>tTc	p.S184F	PHLDB2_ENST00000477695.1_Missense_Mutation_p.S184F|PHLDB2_ENST00000481953.1_Missense_Mutation_p.S184F|PHLDB2_ENST00000393923.3_Missense_Mutation_p.S211F|PHLDB2_ENST00000478922.1_Missense_Mutation_p.S184F|PHLDB2_ENST00000393925.3_Missense_Mutation_p.S184F|PHLDB2_ENST00000412622.1_Missense_Mutation_p.S184F	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	184						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						AATGGAAGTTCCCTGAGTGAT	0.547000													23	35					0	0	1	0	0
KRTAP12-3	386683	broad.mit.edu	37	21	46078007	46078007	+	Silent	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr21:46078007C>T	ENST00000397907.1	+	1	159	c.111C>T	c.(109-111)ccC>ccT	p.P37P	TSPEAR_ENST00000323084.4_Intron	NM_198697.2	NP_941970.2	P60328	KR123_HUMAN	keratin associated protein 12-3	37	14 X 5 AA approximate repeats.					intermediate filament		p.P37P(2)		central_nervous_system(1)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						TGTGCATGCCCGTGAGCTGCA	0.652000													54	98					0	0	1	0	0
PPP1R13B	23368	broad.mit.edu	37	14	104251219	104251219	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr14:104251219C>T	ENST00000202556.9	-	3	472	c.190G>A	c.(190-192)Gaa>Aaa	p.E64K		NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	64					apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding	p.E64*(1)		endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				TGAAGATGTTCGTACATCATA	0.398000													30	35					0	0	1	0	0
BOD1L1	259282	broad.mit.edu	37	4	13603637	13603637	+	Silent	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr4:13603637G>A	ENST00000040738.5	-	10	5022	c.4887C>T	c.(4885-4887)gaC>gaT	p.D1629D		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	1629							DNA binding										CAGCCAGTAGGTCTGCTGCTC	0.473000													78	81					0	0	1	0	0
CAMKK2	10645	broad.mit.edu	37	12	121712177	121712177	+	Silent	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr12:121712177G>A	ENST00000324774.5	-	2	981	c.153C>T	c.(151-153)tcC>tcT	p.S51S	CAMKK2_ENST00000392474.2_Silent_p.S51S|CAMKK2_ENST00000392473.2_Silent_p.S51S|CAMKK2_ENST00000404169.3_Silent_p.S51S|CAMKK2_ENST00000347034.2_Silent_p.S51S|CAMKK2_ENST00000337174.3_Silent_p.S51S|CAMKK2_ENST00000446440.2_Silent_p.S51S|CAMKK2_ENST00000412367.2_Silent_p.S51S|CAMKK2_ENST00000402834.4_Silent_p.S51S|CAMKK2_ENST00000535524.1_5'UTR|CAMKK2_ENST00000538733.1_Silent_p.S51S	NM_006549.3	NP_006540.3	Q96RR4	KKCC2_HUMAN	calcium/calmodulin-dependent protein kinase kinase 2, beta	51					calcium-mediated signaling|MAPKKK cascade|positive regulation of transcription, DNA-dependent|protein autophosphorylation|regulation of protein kinase activity	cytoplasm	ATP binding|calcium ion binding|calmodulin binding|calmodulin-dependent protein kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CCACAATGAAGGACTCCATGC	0.667000													24	19					0	0	1	0	0
POTEG	404785	broad.mit.edu	37	14	19559070	19559070	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr14:19559070G>A	ENST00000409832.3	+	3	768	c.716G>A	c.(715-717)gGa>gAa	p.G239E		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	239										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						GATGAGTATGGAAATACCGCT	0.403000													41	108					0	0	1	0	0
MYBPC2	4606	broad.mit.edu	37	19	50957300	50957300	+	Silent	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr19:50957300G>A	ENST00000357701.5	+	17	1824	c.1773G>A	c.(1771-1773)agG>agA	p.R591R		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	591	Ig-like C2-type 5.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		CCGAGGGCAGGACCCGCATCG	0.627000													7	10					0	0	1	0	0
CYP11B1	1584	broad.mit.edu	37	8	143960476	143960476	+	Missense_Mutation	SNP	G	G	A	rs145050906	byFrequency	TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr8:143960476G>A	ENST00000292427.4	-	2	399	c.367C>T	c.(367-369)Cgt>Tgt	p.R123C	CYP11B1_ENST00000377675.3_Missense_Mutation_p.R168C|CYP11B1_ENST00000517471.1_Missense_Mutation_p.R123C	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	123					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	TTGTGCCCACGATGTTGTCTG	0.632000									Familial Hyperaldosteronism type I				17	31					0	0	1	0	0
BMS1	9790	broad.mit.edu	37	10	43318571	43318571	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr10:43318571G>A	ENST00000374518.4	+	20	3201	c.3138G>A	c.(3136-3138)atG>atA	p.M1046I		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	1046					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity	p.M1046I(1)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TGTAGGGAATGTTTAATTCTG	0.393000													4	77					0	0	1	0	0
TGIF2LY	90655	broad.mit.edu	37	Y	3447341	3447341	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chrY:3447341G>A	ENST00000559055.2	+	1	186	c.56G>A	c.(55-57)aGc>aAc	p.S19N	TGIF2LY_ENST00000321217.4_Missense_Mutation_p.S19N			Q8IUE0	TF2LY_HUMAN	TGFB-induced factor homeobox 2-like, Y-linked	19						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|upper_aerodigestive_tract(1)	2						GAAAAAGACAGCCCGGCGAAG	0.512000													20	4					0	0	1	0	0
LOC339874	339874	broad.mit.edu	37	3	131081049	131081049	+	RNA	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr3:131081049C>T	ENST00000502521.1	-	0	239				NUDT16P_ENST00000499077.2_RNA	NR_038976.1																						CCTGGGCTTCCCTGGCGGATT	0.657000													7	4					0	0	1	0	0
SLC6A9	6536	broad.mit.edu	37	1	44468264	44468264	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:44468264G>A	ENST00000372310.3	-	7	943	c.778C>T	c.(778-780)Cgc>Tgc	p.R260C	SLC6A9_ENST00000372306.3_Missense_Mutation_p.R260C|SLC6A9_ENST00000360584.2_Missense_Mutation_p.R333C|SLC6A9_ENST00000357730.2_Missense_Mutation_p.R279C|SLC6A9_ENST00000372307.3_Missense_Mutation_p.R195C|SLC6A9_ENST00000475075.2_Missense_Mutation_p.R149C|SLC6A9_ENST00000537678.1_Missense_Mutation_p.R195C	NM_001024845.2	NP_001020016.1	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	333						integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	GTCACTCCGCGGACAAACAGA	0.602000													33	72					0	0	1	0	0
TAS1R2	80834	broad.mit.edu	37	1	19181164	19181164	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:19181164C>T	ENST00000375371.3	-	3	821	c.800G>A	c.(799-801)aGc>aAc	p.S267N	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	267					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	GCGCGCTGTGCTCTGCTGCAG	0.622000													8	14					0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56205006	56205006	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr18:56205006C>T	ENST00000361673.3	-	5	2626	c.2413G>A	c.(2413-2415)Gag>Aag	p.E805K	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	805							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TCAAAACACTCCATTGCACAC	0.473000													43	7					0	0	1	0	0
SPG11	80208	broad.mit.edu	37	15	44900701	44900701	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr15:44900701G>A	ENST00000261866.7	-	19	3410	c.3394C>T	c.(3394-3396)Cca>Tca	p.P1132S	SPG11_ENST00000535302.2_Missense_Mutation_p.P1132S|SPG11_ENST00000558319.1_Missense_Mutation_p.P1132S|SPG11_ENST00000427534.2_Missense_Mutation_p.P1132S	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	1132					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		GTGCACTGTGGGAAGAGAGCA	0.408000													34	64					0	0	1	0	0
SLC7A5	8140	broad.mit.edu	37	16	87874041	87874041	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr16:87874041G>A	ENST00000261622.4	-	4	874	c.809C>T	c.(808-810)cCc>cTc	p.P270L	SLC7A5_ENST00000565644.1_Missense_Mutation_p.P4L	NM_003486.5	NP_003477.4	Q01650	LAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 5	270					blood coagulation|cell differentiation|cellular amino acid metabolic process|ion transport|leukocyte migration|nervous system development	apical plasma membrane|cytosol|integral to membrane	neutral amino acid transmembrane transporter activity|peptide antigen binding			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(80;0.049)		GTACCTGTAGGGGTTGATCAT	0.423000													25	7					0	0	1	0	0
RGS6	9628	broad.mit.edu	37	14	72941376	72941376	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr14:72941376G>A	ENST00000553530.1	+	10	869	c.662G>A	c.(661-663)cGa>cAa	p.R221Q	RGS6_ENST00000406236.4_Missense_Mutation_p.R221Q|RGS6_ENST00000407322.4_Missense_Mutation_p.R221Q|RGS6_ENST00000343854.6_Missense_Mutation_p.R221Q|RGS6_ENST00000404301.2_Missense_Mutation_p.R221Q|RGS6_ENST00000553525.1_Missense_Mutation_p.R221Q|RGS6_ENST00000402788.2_Missense_Mutation_p.R221Q|RGS6_ENST00000556437.1_Missense_Mutation_p.R221Q|RGS6_ENST00000554782.1_Missense_Mutation_p.R82Q|RGS6_ENST00000434263.2_Missense_Mutation_p.R152Q|RGS6_ENST00000555571.1_Missense_Mutation_p.R221Q|RGS6_ENST00000355512.6_Missense_Mutation_p.R221Q	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	221					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		CGAAAATGTCGACGTTTGAAG	0.343000													9	23					0	0	1	0	0
NLRC5	84166	broad.mit.edu	37	16	57060508	57060508	+	Silent	SNP	C	C	G			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr16:57060508C>G	ENST00000436936.1	+	6	1878	c.1653C>G	c.(1651-1653)acC>acG	p.T551T	NLRC5_ENST00000262510.6_Silent_p.T551T|NLRC5_ENST00000308149.7_Silent_p.T551T|NLRC5_ENST00000539144.1_Silent_p.T551T			Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	551					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				TACAGCGGACCAAAGCTAGAC	0.612000													52	11					0	0	1	0	0
MLKL	197259	broad.mit.edu	37	16	74719433	74719433	+	Silent	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr16:74719433G>A	ENST00000308807.7	-	5	1234	c.771C>T	c.(769-771)ttC>ttT	p.F257F	MLKL_ENST00000306247.7_Intron	NM_152649.2	NP_689862.1	Q8NB16	MLKL_HUMAN	mixed lineage kinase domain-like	257	Protein kinase.						ATP binding|protein binding|protein kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						TGGGAGATTCGAATTTCTTCA	0.398000													13	2					0	0	1	0	0
LOC440040	440040	broad.mit.edu	37	11	49831533	49831533	+	RNA	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr11:49831533C>T	ENST00000527477.1	+	0	1758																											AGGGAAGAATCAGAATGGCAA	0.453000													11	15					0	0	1	0	0
PCDH10	57575	broad.mit.edu	37	4	134073364	134073364	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr4:134073364G>A	ENST00000264360.4	+	1	2895	c.2069G>A	c.(2068-2070)gGg>gAg	p.G690E		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	690	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G690V(1)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		ggcgggggcgggagcggaggc	0.706000													17	23					0	0	1	0	0
NPY5R	4889	broad.mit.edu	37	4	164272161	164272161	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr4:164272161G>A	ENST00000515560.1	+	4	2258	c.736G>A	c.(736-738)Gaa>Aaa	p.E246K	NPY5R_ENST00000338566.3_Missense_Mutation_p.E246K|NPY5R_ENST00000506953.1_Missense_Mutation_p.E246K			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	246					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane				NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				GTCCAACAAAGAAAACAGACT	0.383000													22	29					0	0	1	0	0
PPM1L	151742	broad.mit.edu	37	3	160786656	160786656	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr3:160786656G>A	ENST00000498165.1	+	4	895	c.794G>A	c.(793-795)cGg>cAg	p.R265Q	PPM1L_ENST00000480117.1_3'UTR|PPM1L_ENST00000295839.9_Missense_Mutation_p.R138Q|PPM1L_ENST00000464260.1_Missense_Mutation_p.R86Q	NM_139245.2	NP_640338.2	Q5SGD2	PPM1L_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1L	265	PP2C-like.				protein dephosphorylation|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			GCCATGTCTCGGTCCCTGGGG	0.512000													26	25					0	0	1	0	0
HNRNPCL1	343069	broad.mit.edu	37	1	12907852	12907852	+	Silent	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:12907852C>T	ENST00000317869.6	-	2	516	c.291G>A	c.(289-291)gtG>gtA	p.V97V		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1			heterogeneous nuclear ribonucleoprotein C-like 1											NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						CTGATCGTTTCACACCTGCGT	0.493000													15	126					0	0	1	0	0
CUL1	8454	broad.mit.edu	37	7	148456715	148456715	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr7:148456715G>A	ENST00000325222.4	+	6	889	c.610G>A	c.(610-612)Gtt>Att	p.V204I	CUL1_ENST00000602748.1_Missense_Mutation_p.V204I|CUL1_ENST00000409469.1_Missense_Mutation_p.V204I	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	204					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			GATTAGTGGAGTTGTACAGTC	0.299000													20	21					0	0	1	0	0
TUFM	7284	broad.mit.edu	37	16	28855302	28855302	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr16:28855302G>A	ENST00000313511.3	-	8	1181	c.1043C>T	c.(1042-1044)tCc>tTc	p.S348F	MIR4721_ENST00000577590.1_RNA	NM_003321.4	NP_003312.3	P49411	EFTU_HUMAN	Tu translation elongation factor, mitochondrial	345						mitochondrial nucleoid	GTP binding|GTPase activity|protein binding|translation elongation factor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13						GGGCTTGATGGAACCTGGCTT	0.677000													14	21					0	0	1	0	0
PPARA	5465	broad.mit.edu	37	22	46627847	46627847	+	Silent	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr22:46627847C>T	ENST00000396000.2	+	7	1135	c.870C>T	c.(868-870)ttC>ttT	p.F290F	PPARA_ENST00000262735.5_Silent_p.F290F|PPARA_ENST00000434345.2_3'UTR|PPARA_ENST00000407236.1_Silent_p.F290F|PPARA_ENST00000402126.1_Silent_p.F290F			Q07869	PPARA_HUMAN	peroxisome proliferator-activated receptor alpha	290	Ligand-binding.				fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fatty acid beta-oxidation|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|ubiquitin conjugating enzyme binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Simvastatin(DB00641)	TCACGGAATTCGCCAAGGCCA	0.542000													32	25					0	0	1	0	0
APCDD1L	164284	broad.mit.edu	37	20	57036205	57036205	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr20:57036205C>T	ENST00000371149.3	-	4	1377	c.1147G>A	c.(1147-1149)Ggg>Agg	p.G383R	APCDD1L_ENST00000491015.1_5'UTR|APCDD1L_ENST00000439429.1_Missense_Mutation_p.G394R	NM_153360.1	NP_699191.1	Q8NCL9	APCDL_HUMAN	adenomatosis polyposis coli down-regulated 1-like	383						integral to membrane				large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(1)	18	Lung NSC(12;0.000856)|all_lung(29;0.0025)		BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06)			GACCAGGCCCCCGCACCCCCA	0.632000													48	70					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9049537	9049537	+	Silent	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr19:9049537G>A	ENST00000397910.4	-	5	32297	c.32094C>T	c.(32092-32094)atC>atT	p.I10698I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10700	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AAAAATTGGGGATTGTTCTGG	0.468000													83	105					0	0	1	0	0
MTA3	57504	broad.mit.edu	37	2	42936056	42936056	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr2:42936056G>A	ENST00000405592.1	+	15	1844	c.1174G>A	c.(1174-1176)Gga>Aga	p.G392R	MTA3_ENST00000406652.1_Missense_Mutation_p.G392R|MTA3_ENST00000407270.3_Missense_Mutation_p.G449R|MTA3_ENST00000406911.1_Missense_Mutation_p.G448R|MTA3_ENST00000405094.1_Missense_Mutation_p.G449R|MTA3_ENST00000472767.1_3'UTR			Q9BTC8	MTA3_HUMAN	metastasis associated 1 family, member 3	449						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|large_intestine(2)|lung(9)|ovary(2)|stomach(1)	15						GGCCATGCAGGGAATGCCAGT	0.478000													67	142					0	0	1	0	0
ADCYAP1R1	117	broad.mit.edu	37	7	31126557	31126557	+	Splice_Site	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr7:31126557G>A	ENST00000304166.4	+	11	1113	c.823_splice	c.e11-1	p.G275_splice	ADCYAP1R1_ENST00000409489.1_Splice_Site_p.G275_splice|ADCYAP1R1_ENST00000409363.1_Splice_Site_p.G254_splice|ADCYAP1R1_ENST00000396211.2_Splice_Site_p.G275_splice	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	275					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						GTTCTCCCAGGGACCCCAACT	0.537000													45	74					0	0	1	0	0
TTC40	54777	broad.mit.edu	37	10	134628230	134628230	+	Silent	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr10:134628230G>A	ENST00000368586.5	-	52	7309	c.7209C>T	c.(7207-7209)atC>atT	p.I2403I	TTC40_ENST00000263170.5_Silent_p.I564I	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN	tetratricopeptide repeat domain 40	564										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						AGTCAGGGGGGATGGTCCGGG	0.647000													8	0					0	0	1	0	0
PCDHB10	56126	broad.mit.edu	37	5	140572553	140572553	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr5:140572553C>T	ENST00000239446.4	+	1	612	c.428C>T	c.(427-429)tCa>tTa	p.S143L		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		143	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTAAAAATATCAGAAAATACA	0.433000													32	42					0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45262123	45262123	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr5:45262123G>A	ENST00000303230.4	-	8	2630	c.2573C>T	c.(2572-2574)cCa>cTa	p.P858L		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	858	Poly-Pro.					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						AGGGGGTGCTGGAGGGACTCC	0.587000													56	53					0	0	1	0	0
BBOX1	8424	broad.mit.edu	37	11	27077173	27077173	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr11:27077173G>A	ENST00000263182.3	+	3	564	c.196G>A	c.(196-198)Ggc>Agc	p.G66S	BBOX1_ENST00000528583.1_Missense_Mutation_p.G66S|BBOX1_ENST00000529202.1_Missense_Mutation_p.G66S|BBOX1_ENST00000527505.1_3'UTR|RP11-1L12.3_ENST00000526061.1_RNA|BBOX1_ENST00000525090.1_Missense_Mutation_p.G66S	NM_003986.2	NP_003977.1	O75936	BODG_HUMAN	butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1	66					carnitine biosynthetic process	actin cytoskeleton|cytosol|intracellular membrane-bounded organelle	gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	23					Succinic acid(DB00139)|Vitamin C(DB00126)	TGGAATTAAAGGCTTGATATT	0.378000													6	10					0	0	1	0	0
EVPLL	645027	broad.mit.edu	37	17	18286458	18286458	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr17:18286458G>A	ENST00000399134.4	+	7	989	c.631G>A	c.(631-633)Gac>Aac	p.D211N	RP1-37N7.1_ENST00000579352.1_RNA	NM_001145127.1	NP_001138599.1	A8MZ36	EVPLL_HUMAN	envoplakin-like	211										NS(1)|endometrium(1)|large_intestine(1)|lung(2)	5						GGACTGGAGCGACCTCATGGC	0.721000													3	5					0	0	1	0	0
C1orf106	55765	broad.mit.edu	37	1	200881061	200881061	+	Silent	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:200881061C>T	ENST00000367342.4	+	9	1895	c.1695C>T	c.(1693-1695)atC>atT	p.I565I	C1orf106_ENST00000413687.2_Silent_p.I480I	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	565										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						GCAGCCGCATCGTGCGGACGC	0.736000													6	5					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238285527	238285527	+	Silent	SNP	G	G	A	rs145203676		TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr2:238285527G>A	ENST00000295550.4	-	7	3410	c.2958C>T	c.(2956-2958)atC>atT	p.I986I	COL6A3_ENST00000347401.3_Silent_p.I785I|COL6A3_ENST00000409809.1_Silent_p.I780I|COL6A3_ENST00000392004.3_Silent_p.I780I|COL6A3_ENST00000346358.4_Silent_p.I786I|COL6A3_ENST00000472056.1_Silent_p.I379I|COL6A3_ENST00000353578.4_Silent_p.I780I|COL6A3_ENST00000392003.2_Silent_p.I579I	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	986	Nonhelical region.|VWFA 5.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GAGACAGCACGATCTGCTCTA	0.512000													70	96					0	0	1	0	0
BAI1	575	broad.mit.edu	37	8	143562694	143562694	+	Silent	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr8:143562694C>T	ENST00000517894.1	+	10	2802	c.1908C>T	c.(1906-1908)tcC>tcT	p.S636S	BAI1_ENST00000323289.5_Silent_p.S636S			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	636					axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GCTGTGTTTCCATTGACTACA	0.607000													39	50					0	0	1	0	0
CSN2	1447	broad.mit.edu	37	4	70823387	70823387	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr4:70823387G>A	ENST00000353151.3	-	5	291	c.280C>T	c.(280-282)Cct>Tct	p.P94S		NM_001891.2	NP_001882.1	P05814	CASB_HUMAN	casein beta	94					calcium ion transport	extracellular region	calcium ion binding|enzyme inhibitor activity|transporter activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|skin(2)	12						TCAGGCTGAGGGACAGGCAGC	0.473000													53	69					0	0	1	0	0
TMPRSS3	64699	broad.mit.edu	37	21	43802299	43802299	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr21:43802299G>A	ENST00000291532.3	-	9	1782	c.827C>T	c.(826-828)tCc>tTc	p.S276F	TMPRSS3_ENST00000474596.1_5'UTR|TMPRSS3_ENST00000398405.1_Missense_Mutation_p.S274F|TMPRSS3_ENST00000433957.2_Missense_Mutation_p.S276F|TMPRSS3_ENST00000398397.3_Missense_Mutation_p.S276F|TMPRSS3_ENST00000380399.1_Missense_Mutation_p.S360F	NM_032404.2	NP_115780.1	P57727	TMPS3_HUMAN	transmembrane protease, serine 3	276	Peptidase S1.				cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						GTCCAACAGGGAAACTAGACC	0.502000													16	34					0	0	1	0	0
NPEPL1	79716	broad.mit.edu	37	20	57290271	57290271	+	Silent	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr20:57290271C>T	ENST00000356091.6	+	12	1749	c.1461C>T	c.(1459-1461)ttC>ttT	p.F487F	STX16-NPEPL1_ENST00000530122.1_3'UTR|NPEPL1_ENST00000525967.1_Silent_p.F459F|NPEPL1_ENST00000525817.1_Silent_p.F439F	NM_024663.3	NP_078939.3	Q8NDH3	PEPL1_HUMAN	aminopeptidase-like 1	487					proteolysis	cytoplasm	aminopeptidase activity|manganese ion binding|metalloexopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109)			TGGCGCTCTTCGGCCGTGCCT	0.662000													7	9					0	0	1	0	0
RGS22	26166	broad.mit.edu	37	8	101065073	101065073	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr8:101065073G>A	ENST00000360863.6	-	10	1840	c.1646C>T	c.(1645-1647)cCa>cTa	p.P549L	RGS22_ENST00000523287.1_Missense_Mutation_p.P368L|RGS22_ENST00000523437.1_Missense_Mutation_p.P537L	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	549					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			GGGTCTTAATGGCAAGAGGGT	0.413000													51	69					0	0	1	0	0
ARHGAP44	9912	broad.mit.edu	37	17	12877444	12877444	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr17:12877444G>A	ENST00000379672.5	+	18	1880	c.1580G>A	c.(1579-1581)cGa>cAa	p.R527Q	ARHGAP44_ENST00000262444.9_Missense_Mutation_p.R527Q|ARHGAP44_ENST00000340825.3_Missense_Mutation_p.R521Q	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN	Rho GTPase activating protein 44	527					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						TGGGTGGCTCGAAGAGGCTCC	0.677000													4	7					0	0	1	0	0
RPUSD2	27079	broad.mit.edu	37	15	40864065	40864065	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr15:40864065C>T	ENST00000315616.7	+	2	907	c.869C>T	c.(868-870)tCt>tTt	p.S290F	RPUSD2_ENST00000559271.1_Missense_Mutation_p.S229F	NM_152260.1	NP_689473.1	Q8IZ73	RUSD2_HUMAN	RNA pseudouridylate synthase domain containing 2	290					pseudouridine synthesis		protein binding|pseudouridine synthase activity|RNA binding			kidney(4)|lung(4)|skin(3)	11		all_cancers(109;2.74e-14)|all_epithelial(112;1.64e-11)|Lung NSC(122;6.69e-09)|all_lung(180;1.22e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3.1e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0786)		GCTGCAGTCTCTGAGAGAATT	0.552000													54	65					0	0	1	0	0
TRIM48	79097	broad.mit.edu	37	11	55032631	55032631	+	Silent	SNP	A	A	G	rs143400868	by1000genomes	TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr11:55032631A>G	ENST00000417545.2	+	2	386	c.300A>G	c.(298-300)ctA>ctG	p.L100L		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	84						intracellular	zinc ion binding			endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						GTCTCTGGCTATTCCTGAGCT	0.463000													20	32					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179452311	179452311	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr2:179452311C>T	ENST00000589042.1	-	306	63949	c.63725G>A	c.(63724-63726)gGa>gAa	p.G21242E	TTN_ENST00000342992.6_Missense_Mutation_p.G18674E|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G19601E|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G12369E|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G12177E|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G12302E|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	19601	Fibronectin type-III 54.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGAATATTTTCCTGAGTCATC	0.428000													9	16					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34285366	34285366	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:34285366C>T	ENST00000373381.4	-	9	1448	c.1272G>A	c.(1270-1272)atG>atA	p.M424I		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	384	CUB 3.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CGCTCACTTTCATACAGGTGA	0.602000													12	14					0	0	1	0	0
ZGLP1	100125288	broad.mit.edu	37	19	10419147	10419147	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr19:10419147G>A	ENST00000403903.3	-	1	1409	c.211C>T	c.(211-213)Cct>Tct	p.P71S	CTD-2369P2.10_ENST00000452032.2_Intron|FDX1L_ENST00000541276.1_Intron|ZGLP1_ENST00000403352.1_5'UTR	NM_001103167.1	NP_001096637.1	P0C6A0	ZGLP1_HUMAN	zinc finger, GATA-like protein 1	71					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|ovary(1)	6						TCCTGGGCAGGGGACTGACCC	0.672000													9	7					0	0	1	0	0
MIR7162	102466227	broad.mit.edu	37	15	62539252	62539252	+	RNA	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr15:62539252C>T	ENST00000570077.1	-	0	337																											CAGCCAAGATCGTCTCCAGCT	0.607000													25	36					0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70989934	70989934	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr12:70989934C>T	ENST00000334414.6	-	5	1197	c.1153G>A	c.(1153-1155)Gaa>Aaa	p.E385K	PTPRB_ENST00000550857.1_Missense_Mutation_p.E167K|PTPRB_ENST00000550358.1_Missense_Mutation_p.E385K|PTPRB_ENST00000538708.1_Missense_Mutation_p.E167K|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000451516.2_Missense_Mutation_p.E167K|PTPRB_ENST00000261266.5_Missense_Mutation_p.E167K|PTPRB_ENST00000551525.1_Missense_Mutation_p.E384K	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	167	Fibronectin type-III 5.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			AAAGTGTATTCATTCCATGAA	0.358000													12	21					0	0	1	0	0
SGCA	6442	broad.mit.edu	37	17	48245837	48245837	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr17:48245837G>A	ENST00000262018.3	+	5	524	c.488G>A	c.(487-489)gGa>gAa	p.G163E	SGCA_ENST00000451235.2_Missense_Mutation_p.G61E|SGCA_ENST00000543315.1_Missense_Mutation_p.G163E|SGCA_ENST00000513942.1_3'UTR|SGCA_ENST00000344627.6_Missense_Mutation_p.G163E	NM_000023.2	NP_000014.1	Q16586	SGCA_HUMAN	sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)	163					muscle contraction|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|skin(1)	14						GCCTTGGGGGGACTCTGGGAG	0.652000													3	1					0	0	1	0	0
KRTAP5-2	440021	broad.mit.edu	37	11	1619212	1619212	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr11:1619212G>A	ENST00000412090.1	-	1	312	c.269C>T	c.(268-270)tCc>tTc	p.S90F	KRTAP5-AS1_ENST00000424148.1_RNA	NM_001004325.1	NP_001004325.1	Q701N4	KRA52_HUMAN	keratin associated protein 5-2	90	6 X 4 AA repeats of C-C-X-P.					keratin filament				large_intestine(1)|lung(2)|skin(1)	4		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GCCCCCACAGGAGCCACAGCC	0.657000													65	192					0	0	1	0	0
KCTD8	386617	broad.mit.edu	37	4	44177182	44177182	+	Silent	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr4:44177182C>T	ENST00000360029.3	-	2	1330	c.1047G>A	c.(1045-1047)ggG>ggA	p.G349G		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	349						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						TACAGGAAGTCCCACTTTCAC	0.468000										HNSCC(17;0.042)			18	32					0	0	1	0	0
RTEL1	51750	broad.mit.edu	37	20	62292755	62292755	+	Silent	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr20:62292755C>T	ENST00000318100.4	+	3	1034	c.207C>T	c.(205-207)gcC>gcT	p.A69A	RTEL1-TNFRSF6B_ENST00000482936.1_Silent_p.A69A|RTEL1_ENST00000508582.2_Silent_p.A69A|RTEL1_ENST00000488316.1_3'UTR|RTEL1_ENST00000370018.3_Silent_p.A69A|RTEL1_ENST00000360203.5_Silent_p.A69A			Q9NZ71	RTEL1_HUMAN	regulator of telomere elongation helicase 1	69	Helicase ATP-binding.				DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			GCATCTCTGCCCGCAAGATTG	0.632000													27	43					0	0	1	0	0
SLC50A1	55974	broad.mit.edu	37	1	155110084	155110084	+	Silent	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:155110084G>A	ENST00000368404.4	+	4	392	c.330G>A	c.(328-330)ctG>ctA	p.L110L	SLC50A1_ENST00000368401.5_Silent_p.L55L|SLC50A1_ENST00000484157.1_Silent_p.L45L|SLC50A1_ENST00000303343.8_Intron|SLC50A1_ENST00000368405.3_Intron	NM_018845.3	NP_061333.2	Q9BRV3	SWET1_HUMAN	solute carrier family 50 (sugar efflux transporter), member 1	110					positive regulation of gene expression, epigenetic	Golgi membrane|integral to membrane|plasma membrane	glucoside transmembrane transporter activity			endometrium(1)|lung(1)|ovary(1)|skin(1)	4						TCCTTCTCCTGGGTTATGGCT	0.562000													32	87					0	0	1	0	0
PRPF40B	25766	broad.mit.edu	37	12	50025194	50025194	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr12:50025194C>T	ENST00000261897.1	+	2	562	c.11C>T	c.(10-12)cCa>cTa	p.P4L	PRPF40B_ENST00000548825.2_Missense_Mutation_p.P32L|PRPF40B_ENST00000380281.1_Missense_Mutation_p.P10L			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	10	Pro-rich.				mRNA processing|RNA splicing	nuclear speck				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						ATGCCCCCTCCAGGGATCCCC	0.577000													92	111					0	0	1	0	0
PCDHA12	56137	broad.mit.edu	37	5	140256635	140256635	+	Silent	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr5:140256635G>A	ENST00000398631.2	+	1	1578	c.1578G>A	c.(1576-1578)gaG>gaA	p.E526E	PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1														NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAGACCACGAGGAGCTGGAGC	0.697000													81	108					0	0	1	0	0
KIAA1644	85352	broad.mit.edu	37	22	44681376	44681376	+	Silent	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr22:44681376C>T	ENST00000381176.4	-	4	663	c.531G>A	c.(529-531)caG>caA	p.Q177Q		NM_001099294.1	NP_001092764.1	Q3SXP7	K1644_HUMAN	KIAA1644	177						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9		all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222)				TGTGCACGGCCTGTGGGGCTT	0.682000													61	58					0	0	1	0	0
PLCL1	5334	broad.mit.edu	37	2	198949115	198949115	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr2:198949115G>A	ENST00000428675.1	+	2	1272	c.874G>A	c.(874-876)Gaa>Aaa	p.E292K	PLCL1_ENST00000437704.2_Missense_Mutation_p.E194K	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	292					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	GAAGAGCAAGGAAAAACTAAC	0.393000													34	49					0	0	1	0	0
TMPRSS3	64699	broad.mit.edu	37	21	43802292	43802292	+	Silent	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr21:43802292C>T	ENST00000291532.3	-	9	1789	c.834G>A	c.(832-834)ttG>ttA	p.L278L	TMPRSS3_ENST00000474596.1_5'UTR|TMPRSS3_ENST00000398405.1_Silent_p.L276L|TMPRSS3_ENST00000433957.2_Silent_p.L278L|TMPRSS3_ENST00000398397.3_Silent_p.L278L|TMPRSS3_ENST00000380399.1_Silent_p.L362L	NM_032404.2	NP_115780.1	P57727	TMPS3_HUMAN	transmembrane protease, serine 3	278	Peptidase S1.				cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						CTGGATTGTCCAACAGGGAAA	0.522000													18	39					0	0	1	0	0
GUSBP1	728411	broad.mit.edu	37	5	21461940	21461940	+	RNA	SNP	G	G	A	rs137972597	by1000genomes	TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr5:21461940G>A	ENST00000607545.1	+	0	144					NR_027026.1																						GAACAAACTCGAAGAACAGCT	0.368000													27	34					0	0	1	0	0
SLK	9748	broad.mit.edu	37	10	105762077	105762077	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr10:105762077C>T	ENST00000369755.3	+	9	1686	c.1141C>T	c.(1141-1143)Ctt>Ttt	p.L381F	SLK_ENST00000335753.4_Missense_Mutation_p.L381F	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	381	Glu-rich.				apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		CAGCAAAATTCTTAATGAAAA	0.363000													35	12					0	0	1	0	0
SLC24A4	123041	broad.mit.edu	37	14	92909097	92909097	+	Silent	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr14:92909097C>T	ENST00000532405.1	+	6	745	c.519C>T	c.(517-519)atC>atT	p.I173I	SLC24A4_ENST00000531433.1_Silent_p.I173I|SLC24A4_ENST00000298877.1_Silent_p.I156I|SLC24A4_ENST00000393265.2_Silent_p.I109I|SLC24A4_ENST00000351924.5_Silent_p.I156I			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	173						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		TGGGCACCATCGTGGGCTCTG	0.612000													43	82					0	0	1	0	0
SLC6A19	340024	broad.mit.edu	37	5	1201859	1201859	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr5:1201859C>T	ENST00000304460.10	+	1	150	c.94C>T	c.(94-96)Cgg>Tgg	p.R32W		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	32					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GGCCAGCTCCCGGCCGAAGTG	0.667000													17	27					0	0	1	0	0
ZNF341	84905	broad.mit.edu	37	20	32379235	32379235	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr20:32379235C>T	ENST00000375200.1	+	15	2842	c.2477C>T	c.(2476-2478)tCc>tTc	p.S826F	ZNF341_ENST00000342427.2_Missense_Mutation_p.S819F|RP4-553F4.6_ENST00000423074.1_RNA|RP4-553F4.6_ENST00000439444.1_RNA|RP4-553F4.6_ENST00000443171.1_RNA			Q9BYN7	ZN341_HUMAN	zinc finger protein 341	826					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						GGGCTGGGCTCCAACCTGGCT	0.682000													19	26					0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38889194	38889194	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr3:38889194G>A	ENST00000302328.3	-	26	4565	c.4367C>T	c.(4366-4368)cCt>cTt	p.P1456L	SCN11A_ENST00000456224.3_Missense_Mutation_p.P1418L|SCN11A_ENST00000450244.1_Missense_Mutation_p.P1456L	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1456					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	CGGAGGGAAAGGAATGTGCTC	0.498000													12	15					0	0	1	0	0
ITGA10	8515	broad.mit.edu	37	1	145539064	145539064	+	Silent	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:145539064C>T	ENST00000369304.3	+	25	3179	c.3004C>T	c.(3004-3006)Cta>Tta	p.L1002L	ITGA10_ENST00000539363.1_Silent_p.L859L|ITGA10_ENST00000538811.1_Silent_p.L871L	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	1002					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CAATTACTTCCTATCACTGTC	0.532000													52	51					0	0	1	0	0
LARP4	113251	broad.mit.edu	37	12	50848181	50848181	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr12:50848181C>T	ENST00000398473.2	+	10	1214	c.1102C>T	c.(1102-1104)Cga>Tga	p.R368*	LARP4_ENST00000518561.1_Nonsense_Mutation_p.R298*|LARP4_ENST00000518444.1_Nonsense_Mutation_p.R367*|LARP4_ENST00000293618.8_Nonsense_Mutation_p.R368*|LARP4_ENST00000347328.5_Nonsense_Mutation_p.R297*|LARP4_ENST00000429001.3_Nonsense_Mutation_p.R374*|LARP4_ENST00000522085.1_Nonsense_Mutation_p.R368*	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	368							nucleotide binding|RNA binding			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						GAATATGGGTCGACCATTCCA	0.338000													15	21					0	0	1	0	0
COMMD2	51122	broad.mit.edu	37	3	149468623	149468623	+	Missense_Mutation	SNP	A	A	G			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr3:149468623A>G	ENST00000473414.1	-	4	298	c.244T>C	c.(244-246)Ttc>Ctc	p.F82L		NM_016094.3	NP_057178.2	Q86X83	COMD2_HUMAN	COMM domain containing 2	82							protein binding			NS(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)|urinary_tract(1)	9			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			GAGTCTTGGAAATCCAGTTCA	0.308000													16	14					0	0	1	0	0
ALDH1L2	160428	broad.mit.edu	37	12	105464438	105464438	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr12:105464438G>A	ENST00000258494.9	-	3	478	c.338C>T	c.(337-339)cCc>cTc	p.P113L	ALDH1L2_ENST00000424857.2_Missense_Mutation_p.P113L	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	113	GART.				10-formyltetrahydrofolate catabolic process|biosynthetic process	mitochondrion	acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						TATATCCATGGGAATGAACTG	0.478000													20	37					0	0	1	0	0
TRBV25-1	28562	broad.mit.edu	37	7	142379036	142379036	+	RNA	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr7:142379036C>T	ENST00000390398.3	+	0	341																											GTCTGCCAGGCCCTCACATAC	0.507000													26	50					0	0	1	0	0
ENOX1	55068	broad.mit.edu	37	13	43872622	43872622	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr13:43872622G>A	ENST00000261488.6	-	12	1883	c.1306C>T	c.(1306-1308)Ctc>Ttc	p.L436F	ENOX1_ENST00000412891.1_Missense_Mutation_p.L436F	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	436					electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		TGCCAGCGGAGACTGTCATTC	0.522000													38	40					0	0	1	0	0
LARP1	23367	broad.mit.edu	37	5	154092519	154092519	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr5:154092519C>T	ENST00000336314.4	+	1	58	c.34C>T	c.(34-36)Cct>Tct	p.P12S		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	276							protein binding|RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AAAGAGGCCTCCTTTCCCTCA	0.587000													23	44					0	0	1	0	0
SMPDL3A	10924	broad.mit.edu	37	6	123116922	123116922	+	Silent	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr6:123116922C>T	ENST00000368440.4	+	2	390	c.213C>T	c.(211-213)tcC>tcT	p.S71S	SMPDL3A_ENST00000539041.1_Intron|SMPDL3A_ENST00000487215.1_3'UTR	NM_006714.3	NP_006705.1	Q92484	ASM3A_HUMAN	sphingomyelin phosphodiesterase, acid-like 3A	71					sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|protein binding|sphingomyelin phosphodiesterase activity			breast(1)|cervix(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	10				GBM - Glioblastoma multiforme(226;0.236)		CAAATGCCTCCAACCCTGGCC	0.398000													16	33					0	0	1	0	0
RNF185	91445	broad.mit.edu	37	22	31600560	31600560	+	Silent	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr22:31600560C>T	ENST00000326132.5	+	7	726	c.567C>T	c.(565-567)ctC>ctT	p.L189L	RNF185_ENST00000426256.2_Silent_p.L127L|RNF185_ENST00000266252.7_Silent_p.L133L	NM_152267.3	NP_689480.2	Q96GF1	RN185_HUMAN	ring finger protein 185	189						integral to membrane	zinc ion binding			NS(1)|large_intestine(1)|lung(3)|skin(1)	6						TGTTCTGGCTCCTGATTGCCT	0.567000													31	38					0	0	1	0	0
STK17B	9262	broad.mit.edu	37	2	197010643	197010643	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr2:197010643C>T	ENST00000263955.4	-	4	758	c.472G>A	c.(472-474)Gat>Aat	p.D158N	STK17B_ENST00000409228.1_Missense_Mutation_p.D158N	NM_004226.3	NP_004217.1	O94768	ST17B_HUMAN	serine/threonine kinase 17b	158	Protein kinase.				apoptosis|induction of apoptosis|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(10)	15			OV - Ovarian serous cystadenocarcinoma(117;0.141)			ACCTTTAAATCAAGGTGTACA	0.328000													8	25					0	0	1	0	0
PTPRN2	5799	broad.mit.edu	37	7	157691406	157691406	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr7:157691406C>T	ENST00000389413.3	-	11	1763	c.1660G>A	c.(1660-1662)Gaa>Aaa	p.E554K	PTPRN2_ENST00000389416.4_Missense_Mutation_p.E566K|PTPRN2_ENST00000404321.2_Missense_Mutation_p.E606K|PTPRN2_ENST00000389418.4_Missense_Mutation_p.E583K|PTPRN2_ENST00000409483.1_Missense_Mutation_p.E545K	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	583						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		CCAGAGGTTTCCTCCAGTTTG	0.512000													84	109					0	0	1	0	0
UBFD1	56061	broad.mit.edu	37	16	23569288	23569288	+	Missense_Mutation	SNP	A	A	G			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr16:23569288A>G	ENST00000395878.3	+	2	424	c.43A>G	c.(43-45)Atg>Gtg	p.M15V	UBFD1_ENST00000567212.1_Missense_Mutation_p.M6V|UBFD1_ENST00000571064.1_3'UTR|UBFD1_ENST00000219638.4_Missense_Mutation_p.M239V|UBFD1_ENST00000567264.1_Missense_Mutation_p.M15V	NM_019116.2	NP_061989.2	O14562	UBFD1_HUMAN	ubiquitin family domain containing 1	15										endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7				GBM - Glioblastoma multiforme(48;0.0331)		GGAACCTGGCATGGACACGGA	0.741000													8	7					0	0	1	0	0
DPYD	1806	broad.mit.edu	37	1	97981281	97981281	+	Splice_Site	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:97981281C>T	ENST00000370192.3	-	13	1841		c.e13+1			NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase						'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	TATTTTCTTACCTTATCAAGA	0.323000													16	14					0	0	1	0	0
NR0B2	8431	broad.mit.edu	37	1	27238471	27238471	+	Silent	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:27238471G>A	ENST00000254227.3	-	2	664	c.639C>T	c.(637-639)cgC>cgT	p.R213R		NM_021969.2	NP_068804.1	Q15466	NR0B2_HUMAN	nuclear receptor subfamily 0, group B, member 2	213	Ligand-binding (By similarity).		R -> C (in early-onset obesity; Japanese population; loss of repressor activity).		cholesterol metabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	DNA binding|protein domain specific binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity			NS(1)|large_intestine(1)|lung(3)	5		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.01e-51)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		CACGGGTCAGGCGGCCTTGGG	0.627000													28	61					0	0	1	0	0
LRRC32	2615	broad.mit.edu	37	11	76370810	76370810	+	Silent	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr11:76370810G>A	ENST00000407242.2	-	3	2069	c.1827C>T	c.(1825-1827)tcC>tcT	p.S609S	LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000260061.5_Silent_p.S609S|LRRC32_ENST00000404995.1_Silent_p.S609S|AP001189.4_ENST00000447519.1_RNA	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	609	LRRCT.					integral to plasma membrane				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						CGTGGCTCAGGGACACCTCCT	0.617000													39	44					0	0	1	0	0
CFH	3075	broad.mit.edu	37	1	196712740	196712740	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:196712740G>A	ENST00000367429.4	+	20	3532	c.3292G>A	c.(3292-3294)Gaa>Aaa	p.E1098K		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	1098	Sushi 18.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						AAACTGGACGGAACCACCTCA	0.353000													64	149					0	0	1	0	0
BPIFA3	128861	broad.mit.edu	37	20	31805372	31805372	+	Silent	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr20:31805372C>T	ENST00000375454.3	+	1	240	c.30C>T	c.(28-30)atC>atT	p.I10I	BPIFA3_ENST00000375452.3_Silent_p.I10I|BPIFA3_ENST00000490499.1_3'UTR	NM_178466.3	NP_848561.2	Q9BQP9	SPLC3_HUMAN	BPI fold containing family A, member 3	10						extracellular region	lipid binding										GGCTCCTCATCTTCCTCGGGT	0.592000													33	54					0	0	1	0	0
KIAA1024	23251	broad.mit.edu	37	15	79755513	79755513	+	Silent	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr15:79755513C>T	ENST00000305428.3	+	3	2478	c.2403C>T	c.(2401-2403)tcC>tcT	p.S801S		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	801						integral to membrane				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						ACCCTGCCTCCCTCAAGGCCC	0.607000													50	61					0	0	1	0	0
SUZ12	23512	broad.mit.edu	37	17	30325845	30325845	+	Silent	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr17:30325845C>T	ENST00000322652.5	+	16	2272	c.2043C>T	c.(2041-2043)ctC>ctT	p.L681L	SUZ12_ENST00000580398.1_Silent_p.L658L	NM_015355.2	NP_056170.2	Q15022	SUZ12_HUMAN	SUZ12 polycomb repressive complex 2 subunit	681					negative regulation of cell differentiation|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|methylated histone residue binding|zinc ion binding		SSH2/SUZ12(2)|JAZF1/SUZ12(133)	breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(5)|skin(1)	21		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)				TTACCAAGCTCCGTGAAATGC	0.358000			T	JAZF1	endometrial stromal tumours								15	17					0	0	1	0	0
RPIA	22934	broad.mit.edu	37	2	88998008	88998008	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr2:88998008C>T	ENST00000283646.4	+	2	347	c.292C>T	c.(292-294)Caa>Taa	p.Q98*		NM_144563.2	NP_653164.2	P49247	RPIA_HUMAN	ribose 5-phosphate isomerase A	98					pentose-phosphate shunt, non-oxidative branch	cytosol	ribose-5-phosphate isomerase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18		Acute lymphoblastic leukemia(2;0.000456)|all_hematologic(2;0.00287)				GCAGAATAACCAAGTGCTGGG	0.373000													59	82					0	0	1	0	0
IL17RA	23765	broad.mit.edu	37	22	17590562	17590562	+	Missense_Mutation	SNP	A	A	C			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr22:17590562A>C	ENST00000319363.6	+	13	2586	c.2453A>C	c.(2452-2454)gAg>gCg	p.E818A		NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN	interleukin 17 receptor A	818	Poly-Glu.				fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity			endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		GAGGAAGAGGAGCAGGACCCA	0.652000													5	9					0	0	1	0	0
PEX5L	51555	broad.mit.edu	37	3	179537668	179537668	+	Missense_Mutation	SNP	T	T	C			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr3:179537668T>C	ENST00000467460.1	-	9	1249	c.919A>G	c.(919-921)Acc>Gcc	p.T307A	PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000263962.8_Missense_Mutation_p.T305A|PEX5L_ENST00000476138.1_Missense_Mutation_p.T264A|PEX5L_ENST00000485199.1_Missense_Mutation_p.T272A|PEX5L_ENST00000468741.1_Missense_Mutation_p.T115A|PEX5L_ENST00000392649.3_Missense_Mutation_p.T199A|PEX5L_ENST00000465751.1_Missense_Mutation_p.T283A|PEX5L_ENST00000464614.1_Missense_Mutation_p.T199A|PEX5L_ENST00000472994.1_Missense_Mutation_p.T248A	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	307					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			GCCGAGATGGTTACTTGGTTC	0.413000													41	48					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9064721	9064721	+	Silent	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr19:9064721G>A	ENST00000397910.4	-	3	22928	c.22725C>T	c.(22723-22725)tcC>tcT	p.S7575S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7577	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTTCTGTCCTGGAGACCTCAG	0.502000													48	81					0	0	1	0	0
MAGEE2	139599	broad.mit.edu	37	X	75003415	75003415	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chrX:75003415C>T	ENST00000373359.2	-	1	1664	c.1472G>A	c.(1471-1473)cGa>cAa	p.R491Q		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	491	MAGE 2.									autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GTTCTGTGGTCGCTTTCTGTA	0.478000													22	2					0	0	1	0	0
NOC2L	26155	broad.mit.edu	37	1	888572	888572	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:888572G>A	ENST00000327044.6	-	9	1034	c.985C>T	c.(985-987)Ctt>Ttt	p.L329F		NM_015658.3	NP_056473.2	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog (S. cerevisiae)	329						nucleolus	protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		ACGGGGCCAAGGAAAGTGTCC	0.597000													14	14					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20975441	20975441	+	Silent	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr16:20975441C>T	ENST00000261383.3	-	53	9764	c.9765G>A	c.(9763-9765)gaG>gaA	p.E3255E	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3255	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CGGTTTCATCCTCCAGGATGT	0.443000													58	57					0	0	1	0	0
SYVN1	84447	broad.mit.edu	37	11	64895939	64895939	+	Missense_Mutation	SNP	T	T	C			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr11:64895939T>C	ENST00000526060.1	-	16	1958	c.1766A>G	c.(1765-1767)gAg>gGg	p.E589G	SYVN1_ENST00000377190.3_Missense_Mutation_p.E590G|SYVN1_ENST00000307289.6_Missense_Mutation_p.E538G|SYVN1_ENST00000294256.8_Missense_Mutation_p.E589G			Q86TM6	SYVN1_HUMAN	synovial apoptosis inhibitor 1, synoviolin	590					ER-associated protein catabolic process|response to stress	endoplasmic reticulum membrane|integral to membrane|nucleus	acid-amino acid ligase activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						AGGCATCTCCTCTGTGCCCAC	0.632000													35	30					0	0	1	0	0
PRF1	5551	broad.mit.edu	37	10	72360304	72360304	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr10:72360304G>A	ENST00000441259.1	-	2	515	c.355C>T	c.(355-357)Cgg>Tgg	p.R119W	PRF1_ENST00000373209.2_Missense_Mutation_p.R119W	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	119	MACPF.				apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						GCCGCATCCCGGGCCACAGCT	0.652000			M			"""various leukaemia, lymphoma"""	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis				6	2					0	0	1	0	0
GUCY2D	3000	broad.mit.edu	37	17	7917254	7917254	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr17:7917254G>A	ENST00000254854.4	+	12	2470	c.2320G>A	c.(2320-2322)Gac>Aac	p.D774N		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	774	Protein kinase.				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)				GGTGTCCATGGACCAGGCACC	0.642000													54	72					0	0	1	0	0
MARS	4141	broad.mit.edu	37	12	57883717	57883717	+	Silent	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr12:57883717C>T	ENST00000262027.5	+	5	587	c.453C>T	c.(451-453)gcC>gcT	p.A151A	MARS_ENST00000447721.2_Intron|MARS_ENST00000315473.5_Intron	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	151	GST C-terminal.				methionyl-tRNA aminoacylation	cytosol	ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	TGTGGGGAGCCCTATACCCAT	0.478000													71	98					0	0	1	0	0
CES4A	283848	broad.mit.edu	37	16	67038035	67038035	+	Missense_Mutation	SNP	G	G	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr16:67038035G>T	ENST00000540947.2	+	9	1172	c.988G>T	c.(988-990)Gac>Tac	p.D330Y	CES4A_ENST00000540579.1_Missense_Mutation_p.D232Y|CES4A_ENST00000338718.4_Missense_Mutation_p.D353Y|CES4A_ENST00000398354.1_Missense_Mutation_p.D330Y|CES4A_ENST00000541479.1_Missense_Mutation_p.D353Y|CES4A_ENST00000535696.1_Missense_Mutation_p.D236Y|CES4A_ENST00000326686.5_Missense_Mutation_p.D330Y	NM_173815.6	NP_776176.5	Q5XG92	EST4A_HUMAN	carboxylesterase 4A	330						extracellular region	carboxylesterase activity			large_intestine(2)|liver(2)|lung(4)|ovary(1)	9						GATCCCAGATGACCCTTTGGT	0.512000													4	68					1	1	1	1	0
DSCAM	1826	broad.mit.edu	37	21	41561041	41561041	+	Silent	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr21:41561041G>A	ENST00000400454.1	-	12	2958	c.2481C>T	c.(2479-2481)atC>atT	p.I827I		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	827	Ig-like C2-type 9.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CAGGGTTAATGATTCGGTCCT	0.512000													55	88					0	0	1	0	0
NOVA1	4857	broad.mit.edu	37	14	26939671	26939671	+	Silent	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr14:26939671C>T	ENST00000344429.5	-	5	548	c.545G>A	c.(544-546)tGa>tAa	p.*182*	NOVA1_ENST00000539517.2_Intron|NOVA1_ENST00000465357.2_Intron|NOVA1_ENST00000267422.7_Intron	NM_006491.2	NP_006482.1	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	0	KH 2.				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		TATCTTGCTTCATGATATCCA	0.264000													9	12					0	0	1	0	0
CES2	8824	broad.mit.edu	37	16	66976133	66976133	+	Silent	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr16:66976133C>T	ENST00000317091.4	+	9	2439	c.1455C>T	c.(1453-1455)ctC>ctT	p.L485L	CES2_ENST00000417689.1_Silent_p.L485L	NM_003869.5	NP_003860.2	O00748	EST2_HUMAN	carboxylesterase 2	421					catabolic process	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)		TCCCTGCACTCCAAGTAGCAC	0.572000													40	13					0	0	1	0	0
ZNF229	7772	broad.mit.edu	37	19	44934301	44934301	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr19:44934301C>T	ENST00000291187.4	-	6	959	c.637G>A	c.(637-639)Gat>Aat	p.D213N	ZNF229_ENST00000591289.1_Intron|CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000588931.1_Missense_Mutation_p.D219N	NM_001278510.1	NP_001265439.1	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	219					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				AAGCTGTCATCATCCCAGTTA	0.388000													37	55					0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48619779	48619779	+	Missense_Mutation	SNP	G	G	A	rs149711883	byFrequency	TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr3:48619779G>A	ENST00000328333.8	-	46	4719	c.4612C>T	c.(4612-4614)Cgc>Tgc	p.R1538C	COL7A1_ENST00000454817.1_Missense_Mutation_p.R1538C	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1538	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TCCCCAGGGCGACCAGGCTCC	0.607000													56	79					0	0	1	0	0
HDGFRP2	84717	broad.mit.edu	37	19	4491608	4491608	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr19:4491608C>T	ENST00000301284.4	+	5	599	c.535C>T	c.(535-537)Cag>Tag	p.Q179*	HDGFRP2_ENST00000586684.1_Nonsense_Mutation_p.Q179*	NM_001001520.1|NM_032631.2	NP_001001520.1|NP_116020.1	Q7Z4V5	HDGR2_HUMAN		179	Ser-rich.				transcription, DNA-dependent	nucleus	DNA binding|protein binding										CGACCTGGATCAGGCCAGCGT	0.627000													28	35					0	0	1	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88886136	88886136	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr8:88886136C>T	ENST00000319675.3	-	1	160	c.64G>A	c.(64-66)Gga>Aga	p.G22R		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	22										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						GCATTGAGTCCCACTCTGACT	0.522000													27	47					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13870886	13870886	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr5:13870886C>T	ENST00000265104.4	-	24	3928	c.3824G>A	c.(3823-3825)gGa>gAa	p.G1275E	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1275	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTCAATAGGTCCTACTTGAAA	0.368000									Kartagener syndrome				17	14					0	0	1	0	0
ANKRD33	341405	broad.mit.edu	37	12	52284646	52284646	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr12:52284646G>A	ENST00000301190.6	+	5	1143	c.916G>A	c.(916-918)Gac>Aac	p.D306N	ANKRD33_ENST00000547119.1_3'UTR|ANKRD33_ENST00000538991.1_Missense_Mutation_p.D112N|ANKRD33_ENST00000340970.4_Missense_Mutation_p.D181N	NM_001130015.1|NM_182608.3	NP_001123487.1|NP_872414.3	Q7Z3H0	ANR33_HUMAN	ankyrin repeat domain 33	181										endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		GGGTGTTCTGGACCACCTTGT	0.652000													13	18					0	0	1	0	0
MPZ	4359	broad.mit.edu	37	1	161276155	161276155	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:161276155C>T	ENST00000533357.1	-	4	614	c.548G>A	c.(547-549)tGg>tAg	p.W183*	MPZ_ENST00000526189.1_5'UTR|MPZ_ENST00000360451.6_Nonsense_Mutation_p.W193*|MPZ_ENST00000491222.2_5'UTR|MPZ_ENST00000336559.4_Nonsense_Mutation_p.W183*	NM_000530.6	NP_000521.2	P25189	MYP0_HUMAN	myelin protein zero	183					synaptic transmission	integral to plasma membrane	structural molecule activity			central_nervous_system(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	10	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)	Breast(1374;0.181)	BRCA - Breast invasive adenocarcinoma(70;0.00376)			CCTGCGTAGCCAGCAGTACCG	0.647000													56	75					0	0	1	0	0
CHRM2	1129	broad.mit.edu	37	7	136700305	136700305	+	Silent	SNP	T	T	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr7:136700305T>A	ENST00000445907.2	+	3	1221	c.693T>A	c.(691-693)gtT>gtA	p.V231V	AC009264.1_ENST00000439694.1_RNA|AC009264.1_ENST00000598184.1_RNA|CHRM2_ENST00000397608.3_Silent_p.V231V|CHRM2_ENST00000402486.3_Silent_p.V231V|AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000592183.1_RNA|AC009264.1_ENST00000425981.2_RNA|AC009264.1_ENST00000586239.1_RNA|AC009264.1_ENST00000597642.1_RNA|CHRM2_ENST00000401861.1_Silent_p.V231V|CHRM2_ENST00000320658.5_Silent_p.V231V|CHRM2_ENST00000453373.1_Silent_p.V231V	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	231					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	AAGACCCCGTTTCTCCAAGTC	0.483000													16	12					0	0	1	0	0
DMRT3	58524	broad.mit.edu	37	9	990557	990557	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr9:990557C>T	ENST00000190165.2	+	2	1009	c.971C>T	c.(970-972)tCg>tTg	p.S324L		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	324					cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		TACCCCATCTCGTCTTCCAAA	0.557000													27	10					0	0	1	0	0
CUL7	9820	broad.mit.edu	37	6	43014252	43014252	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr6:43014252G>A	ENST00000535468.1	-	11	2823	c.2737C>T	c.(2737-2739)Cag>Tag	p.Q913*	CUL7_ENST00000478630.1_5'UTR|CUL7_ENST00000265348.3_Nonsense_Mutation_p.Q829*	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	cullin 7	829	DOC.				interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CACGAACCCTGGCACAGGTAT	0.567000													20	34					0	0	1	0	0
SCAF4	57466	broad.mit.edu	37	21	33074171	33074171	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr21:33074171G>A	ENST00000286835.7	-	6	900	c.518C>T	c.(517-519)tCc>tTc	p.S173F	SCAF4_ENST00000434667.3_Missense_Mutation_p.S158F|SCAF4_ENST00000399804.1_Missense_Mutation_p.S173F	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	173						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						AGCTGGGACGGAGTTTGGAGT	0.463000													21	33					0	0	1	0	0
GPHN	10243	broad.mit.edu	37	14	67579881	67579881	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr14:67579881G>A	ENST00000478722.1	+	16	2740	c.1619G>A	c.(1618-1620)gGg>gAg	p.G540E	GPHN_ENST00000543237.1_Missense_Mutation_p.G553E|GPHN_ENST00000544752.2_3'UTR|GPHN_ENST00000315266.5_Missense_Mutation_p.G507E|GPHN_ENST00000305960.9_Missense_Mutation_p.G476E	NM_020806.4	NP_065857.1	Q9NQX3	GEPH_HUMAN	gephyrin	507	MPT adenylyltransferase.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity			large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		ATGTCAACAGGGAATGAGGTA	0.428000			T	MLL	AL								23	57					0	0	1	0	0
MAP3K19	80122	broad.mit.edu	37	2	135744092	135744092	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr2:135744092G>A	ENST00000375845.3	-	7	2380	c.2350C>T	c.(2350-2352)Cat>Tat	p.H784Y	MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000358371.4_Missense_Mutation_p.H671Y|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392915.1_Missense_Mutation_p.H801Y|MAP3K19_ENST00000392918.3_Intron	NM_025052.3	NP_079328.3			mitogen-activated protein kinase kinase kinase 19																		TTCATGGGATGAATTTCATCT	0.393000													27	37					0	0	1	0	0
FAM194A	131831	broad.mit.edu	37	3	150421551	150421551	+	Silent	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr3:150421551C>T	ENST00000295910.6	-	1	187	c.135G>A	c.(133-135)gaG>gaA	p.E45E	RP11-103G8.2_ENST00000471093.1_RNA|FAM194A_ENST00000491361.1_Intron	NM_152394.3	NP_689607.2	Q7L0X2	F194A_HUMAN	family with sequence similarity 194, member A	45	Glu-rich.									NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						ccacctcttcctcctcctcct	0.607000													9	7					0	0	1	0	0
CSRP2BP	57325	broad.mit.edu	37	20	18143485	18143485	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr20:18143485G>A	ENST00000278816.2	+	7	2217	c.1567G>A	c.(1567-1569)Gac>Aac	p.D523N	CSRP2BP_ENST00000377681.2_Missense_Mutation_p.D522N|CSRP2BP_ENST00000489634.2_Missense_Mutation_p.D395N|CSRP2BP_ENST00000435364.2_Missense_Mutation_p.D523N			Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	523					histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						TTTGTTAGTTGACGGGATTTA	0.448000													41	56					0	0	1	0	0
INTS1	26173	broad.mit.edu	37	7	1516529	1516529	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr7:1516529G>A	ENST00000389470.4	-	37	5560	c.5561C>T	c.(5560-5562)tCg>tTg	p.S1854L	INTS1_ENST00000404767.3_Missense_Mutation_p.S1655L			Q8N201	INT1_HUMAN	integrator complex subunit 1	1655					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		GGGACGGAACGAGGGCACCTG	0.637000													10	14					0	0	1	0	0
BRSK2	9024	broad.mit.edu	37	11	1467007	1467007	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr11:1467007G>A	ENST00000308219.9	+	12	1482	c.1096G>A	c.(1096-1098)Gac>Aac	p.D366N	BRSK2_ENST00000382179.1_Missense_Mutation_p.D412N|BRSK2_ENST00000308230.5_Missense_Mutation_p.D366N|BRSK2_ENST00000544817.1_Missense_Mutation_p.D61N|BRSK2_ENST00000528710.1_Missense_Mutation_p.D306N|BRSK2_ENST00000531197.1_Missense_Mutation_p.D366N|BRSK2_ENST00000528841.1_Missense_Mutation_p.D366N|BRSK2_ENST00000526678.1_Missense_Mutation_p.D366N	NM_001256627.1|NM_003957.3	NP_001243556.1|NP_003948.2	Q8IWQ3	BRSK2_HUMAN	BR serine/threonine kinase 2	366					establishment of cell polarity|neuron differentiation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(1)|lung(5)	10		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)		GAAGCGTGTGGACTCCCCGAT	0.716000													34	51					0	0	1	0	0
ADAM28	10863	broad.mit.edu	37	8	24167683	24167683	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr8:24167683C>T	ENST00000265769.4	+	4	345	c.235C>T	c.(235-237)Ctt>Ttt	p.L79F	RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000397649.3_5'UTR|RP11-624C23.1_ENST00000519689.1_RNA|ADAM28_ENST00000437154.2_Missense_Mutation_p.L79F|ADAM28_ENST00000540823.1_5'UTR|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	79					proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		CAGGAACCTCCTTGCACCAGG	0.398000													22	20					0	0	1	0	0
KIF22	3835	broad.mit.edu	37	16	29811294	29811294	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr16:29811294C>T	ENST00000561482.1	+	8	1638	c.1001C>T	c.(1000-1002)gCc>gTc	p.A334V	KIF22_ENST00000160827.4_Missense_Mutation_p.A402V|KIF22_ENST00000400751.5_Missense_Mutation_p.A334V|KIF22_ENST00000400750.2_5'UTR|KIF22_ENST00000569382.2_Missense_Mutation_p.A334V|KIF22_ENST00000563263.1_3'UTR	NM_001256270.1	NP_001243199.1	Q14807	KIF22_HUMAN	kinesin family member 22	402					blood coagulation|DNA repair|microtubule-based movement|mitosis	cytosol|kinetochore|microtubule|nucleus	ATP binding|DNA binding|microtubule motor activity|protein binding			endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						GCAAAGAGAGCCCGAGGCCCT	0.587000													14	47					0	0	1	0	0
CYP4Z2P	163720	broad.mit.edu	37	1	47364537	47364537	+	RNA	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:47364537G>A	ENST00000505841.1	-	0	299					NR_002788.2																						GGAGAATCTTGACATAGTCTG	0.473000													15	41					0	0	1	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54910051	54910051	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr12:54910051G>A	ENST00000293373.6	+	10	1049	c.970G>A	c.(970-972)Gag>Aag	p.E324K	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.E274K|NCKAP1L_ENST00000552211.1_3'UTR	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	324					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						AGACATAAAGGAGAGCAAGGA	0.483000													21	69					0	0	1	0	0
FZD7	8324	broad.mit.edu	37	2	202900456	202900456	+	Silent	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr2:202900456C>T	ENST00000286201.1	+	1	1147	c.1086C>T	c.(1084-1086)ttC>ttT	p.F362F		NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN	frizzled family receptor 7	362					axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						TCACTTGGTTCCTGGCGGCCG	0.617000											OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	34	52					0	0	1	0	0
C19orf18	147685	broad.mit.edu	37	19	58483850	58483850	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr19:58483850C>T	ENST00000314391.3	-	3	350	c.249G>A	c.(247-249)atG>atA	p.M83I		NM_152474.4	NP_689687.1	Q8NEA5	CS018_HUMAN	chromosome 19 open reading frame 18	83						integral to membrane				large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)		TCAGGAATTTCATGGGGTTCG	0.483000													17	22					0	0	1	0	0
ANKHD1	54882	broad.mit.edu	37	5	139876707	139876707	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr5:139876707G>A	ENST00000297183.6	+	15	2972	c.2848G>A	c.(2848-2850)Gaa>Aaa	p.E950K	ANKHD1_ENST00000462121.1_3'UTR|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.E950K|ANKHD1_ENST00000360839.2_Missense_Mutation_p.E950K	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAATTCTCTTGAACTTCAGAA	0.428000													79	110					0	0	1	0	0
MEP1A	4224	broad.mit.edu	37	6	46802353	46802353	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr6:46802353G>A	ENST00000230588.4	+	12	1657	c.1648G>A	c.(1648-1650)Gtg>Atg	p.V550M		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	550	MATH.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			GCCGTCCAGGGTGGGAACCTA	0.438000													55	68					0	0	1	0	0
CNTN3	5067	broad.mit.edu	37	3	74418350	74418350	+	Silent	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr3:74418350G>A	ENST00000263665.6	-	7	963	c.936C>T	c.(934-936)ctC>ctT	p.L312L		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	312	Ig-like C2-type 3.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		CATAGTAAGTGAGACGCCCTC	0.413000													8	22					0	0	1	0	0
SYNM	23336	broad.mit.edu	37	15	99671446	99671446	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr15:99671446C>T	ENST00000336292.6	+	5	2998	c.2878C>T	c.(2878-2880)Ccc>Tcc	p.P960S	RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000560674.1_Missense_Mutation_p.P675S|SYNM_ENST00000328642.7_Missense_Mutation_p.P960S|SYNM_ENST00000561323.1_3'UTR	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN	synemin, intermediate filament protein	961	Tail.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						GGAAACCCTTCCCGAGCGCAT	0.632000													9	13					0	0	1	0	0
NEUROD1	4760	broad.mit.edu	37	2	182543168	182543168	+	Silent	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr2:182543168G>A	ENST00000295108.3	-	2	877	c.420C>T	c.(418-420)atC>atT	p.I140I	NEUROD1_ENST00000496876.1_Intron|CERKL_ENST00000479558.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	140	Helix-loop-helix motif.				amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			GCAGAGTCTCGATTTTGGACA	0.582000													27	33					0	0	1	0	0
PGK2	5232	broad.mit.edu	37	6	49754528	49754528	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr6:49754528G>A	ENST00000304801.3	-	1	525	c.373C>T	c.(373-375)Cat>Tat	p.H125Y		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	125					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					TCCTCCACATGAAAGCGCAGG	0.512000													31	38					0	0	1	0	0
PLCZ1	89869	broad.mit.edu	37	12	18841101	18841101	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr12:18841101C>T	ENST00000266505.7	-	13	1776	c.1513G>A	c.(1513-1515)Gat>Aat	p.D505N	PLCZ1_ENST00000538330.1_Missense_Mutation_p.D287N|PLCZ1_ENST00000435379.1_Missense_Mutation_p.D310N|PLCZ1_ENST00000534932.1_5'UTR|PLCZ1_ENST00000539875.1_Missense_Mutation_p.D312N|PLCZ1_ENST00000447925.2_Missense_Mutation_p.D503N|PLCZ1_ENST00000541695.1_Missense_Mutation_p.D368N			Q86YW0	PLCZ1_HUMAN	phospholipase C, zeta 1	505	C2.				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					ACTAATGAATCACCTTTGTTA	0.318000													32	38					0	0	1	0	0
EFCAB12	90288	broad.mit.edu	37	3	129130158	129130158	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr3:129130158G>A	ENST00000505956.1	-	5	1040	c.878C>T	c.(877-879)cCg>cTg	p.P293L	EFCAB12_ENST00000326085.3_Missense_Mutation_p.P293L	NM_207307.1	NP_997190.1			EF-hand calcium binding domain 12																		CTTCTTGAGCGGACCCTTCAG	0.577000													34	55					0	0	1	0	0
ZFAT	57623	broad.mit.edu	37	8	135612789	135612789	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr8:135612789C>T	ENST00000520727.1	-	8	2628	c.2329G>A	c.(2329-2331)Gta>Ata	p.V777I	ZFAT_ENST00000523399.1_Missense_Mutation_p.V727I|ZFAT_ENST00000377838.3_Missense_Mutation_p.V789I|ZFAT_ENST00000520214.1_Missense_Mutation_p.V777I|ZFAT_ENST00000520356.1_Missense_Mutation_p.V777I|ZFAT_ENST00000429442.2_Missense_Mutation_p.V777I|ZFAT-AS1_ENST00000505776.1_RNA	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	789					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			TTCTGAATTACGTGGCGTTTA	0.428000													49	79					0	0	1	0	0
UPK3B	80761	broad.mit.edu	37	7	76140168	76140168	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr7:76140168G>A	ENST00000419923.2	+	1	424	c.199G>A	c.(199-201)Ggg>Agg	p.G67R	UPK3B_ENST00000394849.1_Intron|UPK3B_ENST00000443097.2_Intron|UPK3B_ENST00000257632.5_Missense_Mutation_p.G67R|UPK3B_ENST00000448265.3_Missense_Mutation_p.G67R|UPK3B_ENST00000334348.3_Intron			Q9BT76	UPK3B_HUMAN	uroplakin 3B	67					negative regulation of gene expression	integral to membrane|plasma membrane				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(1)|skin(2)	8		Myeloproliferative disorder(862;0.204)				GGCAGCCCCAGGGACCCCCAC	0.677000													6	7					0	0	1	0	0
TRBV4-2	28616	broad.mit.edu	37	7	142045744	142045744	+	RNA	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr7:142045744C>T	ENST00000390392.3	+	0	383																											CCCAACAGCTCTCACTTATTC	0.507000													83	115					0	0	1	0	0
PLAGL2	5326	broad.mit.edu	37	20	30789802	30789802	+	Silent	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr20:30789802G>A	ENST00000246229.4	-	2	444	c.180C>T	c.(178-180)ctC>ctT	p.L60L		NM_002657.3	NP_002648.1	Q9UPG8	PLAL2_HUMAN	pleiomorphic adenoma gene-like 2	60						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CTGGTTGCGGGAGGCTGTGAG	0.542000													28	40					0	0	1	0	0
METTL15	196074	broad.mit.edu	37	11	28349661	28349661	+	Silent	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr11:28349661C>T	ENST00000342303.5	+	7	1253	c.798C>T	c.(796-798)ttC>ttT	p.F266F	METTL15_ENST00000303459.6_Silent_p.F266F|METTL15_ENST00000406787.3_Intron|METTL15_ENST00000407364.3_Intron	NM_152636.2	NP_689849.2	A6NJ78	MET15_HUMAN	methyltransferase like 15	0							methyltransferase activity			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	14						AAACATATTTCCCAGTGGCCC	0.333000													23	27					0	0	1	0	0
CAMTA1	23261	broad.mit.edu	37	1	7798376	7798376	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:7798376C>T	ENST00000303635.7	+	16	4223	c.4016C>T	c.(4015-4017)cCg>cTg	p.P1339L	CAMTA1_ENST00000439411.2_Missense_Mutation_p.P1339L	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	1339					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		ACTGGAAATCCGAAGGGGACC	0.498000			T	WWTR1	epitheliod hemangioendothelioma								26	49					0	0	1	0	0
ATP8A1	10396	broad.mit.edu	37	4	42454056	42454056	+	Silent	SNP	T	T	C			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr4:42454056T>C	ENST00000381668.5	-	30	3069	c.2838A>G	c.(2836-2838)ttA>ttG	p.L946L	ATP8A1_ENST00000264449.10_Silent_p.L931L	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	946					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	AGAGGCCATTTAAACAATGAA	0.373000													10	15					0	0	1	0	0
OR2G6	391211	broad.mit.edu	37	1	248685000	248685000	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:248685000C>T	ENST00000343414.4	+	1	85	c.53C>T	c.(52-54)tCa>tTa	p.S18L		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	18					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTGGGATTTTCAGATCAGCCT	0.428000													84	78					0	0	1	0	0
VWA3B	200403	broad.mit.edu	37	2	98834465	98834465	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr2:98834465G>A	ENST00000477737.1	+	14	2197	c.1993G>A	c.(1993-1995)Gat>Aat	p.D665N		NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	665	VWFA.							p.D665H(1)		NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TGGTTGCAAGGATCCCACTCC	0.453000													20	33					0	0	1	0	0
PPP6C	5537	broad.mit.edu	37	9	127933372	127933372	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr9:127933372G>A	ENST00000451402.1	-	3	494	c.274C>T	c.(274-276)Cat>Tat	p.H92Y	PPP6C_ENST00000373547.4_Missense_Mutation_p.H55Y|PPP6C_ENST00000415905.1_Missense_Mutation_p.H55Y|PPP6C_ENST00000373546.3_5'UTR	NM_001123355.1	NP_001116827.1	O00743	PPP6_HUMAN	protein phosphatase 6, catalytic subunit	55					G1/S transition of mitotic cell cycle|protein dephosphorylation	cytosol	metal ion binding|protein binding|protein serine/threonine phosphatase activity			NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3)	14						ACCTGTCCATGGATATCTCCA	0.378000													83	15					0	0	1	0	0
SLC35C1	55343	broad.mit.edu	37	11	45832766	45832766	+	Silent	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr11:45832766G>A	ENST00000314134.3	+	2	2371	c.975G>A	c.(973-975)acG>acA	p.T325T	SLC35C1_ENST00000456334.1_Silent_p.T312T|SLC35C1_ENST00000442528.2_Silent_p.T312T	NM_018389.4	NP_060859.4	Q96A29	FUCT1_HUMAN	solute carrier family 35 (GDP-fucose transporter), member C1	325						Golgi membrane|integral to membrane	GDP-fucose transmembrane transporter activity			endometrium(3)|kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10				GBM - Glioblastoma multiforme(35;0.227)		TCTGGTGGACGAGCAACATGA	0.632000													15	16					0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124345710	124345710	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr12:124345710G>A	ENST00000409039.3	+	38	6572	c.6547G>A	c.(6547-6549)Gag>Aag	p.E2183K		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2183	AAA 2 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AGACAAGAAGGAGCGAAAGTG	0.448000													10	17					0	0	1	0	0
ITGA2	3673	broad.mit.edu	37	5	52374640	52374640	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr5:52374640G>A	ENST00000296585.5	+	24	3007	c.2864G>A	c.(2863-2865)gGg>gAg	p.G955E		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	955					axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				TCTTCGGATGGGAATGTTCCT	0.363000													12	28					0	0	1	0	0
CGN	57530	broad.mit.edu	37	1	151508776	151508776	+	Silent	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:151508776C>T	ENST00000271636.7	+	19	3394	c.3261C>T	c.(3259-3261)atC>atT	p.I1087I		NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	1081						myosin complex|tight junction	actin binding|motor activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			AACTATCCATCCAGATTGAAG	0.478000													52	39					0	0	1	0	0
OR5H2	79310	broad.mit.edu	37	3	98002110	98002110	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr3:98002110C>T	ENST00000355273.2	+	1	379	c.379C>T	c.(379-381)Cgc>Tgc	p.R127C	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005482.1	NP_001005482.1	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H, member 2	127					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						GGCATATGATCGCTATGTAGC	0.378000													31	48					0	0	1	0	0
ANO2	57101	broad.mit.edu	37	12	5744514	5744514	+	Splice_Site	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr12:5744514C>T	ENST00000356134.5	-	18	1695		c.e18-1		ANO2_ENST00000546188.1_Splice_Site|ANO2_ENST00000538154.1_Splice_Site|ANO2_ENST00000327087.8_Splice_Site	NM_001278596.1|NM_001278597.1	NP_001265525.1|NP_001265526.1	Q9NQ90	ANO2_HUMAN	anoctamin 2							chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						TCAGGGCAATCTGTTTGGGAA	0.453000													15	19					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11039213	11039213	+	RNA	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr21:11039213C>T	ENST00000470054.1	-	0	990									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTTTGGAGGCCTTGATTCTTC	0.423000													5	184					0	0	1	0	0
TRAK1	22906	broad.mit.edu	37	3	42264711	42264711	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr3:42264711C>T	ENST00000327628.5	+	16	2744	c.2344C>T	c.(2344-2346)Ccg>Tcg	p.P782S	TRAK1_ENST00000487159.1_3'UTR|TRAK1_ENST00000396175.1_Missense_Mutation_p.P724S	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	782					endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						CCCCTCTACTCCGCCGAACTC	0.622000													19	39					0	0	1	0	0
SMG8	55181	broad.mit.edu	37	17	57287876	57287876	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr17:57287876C>T	ENST00000543872.2	+	2	728	c.464C>T	c.(463-465)tCc>tTc	p.S155F	SMG8_ENST00000580498.1_Intron|SMG8_ENST00000578922.1_Missense_Mutation_p.S155F|SMG8_ENST00000300917.5_Missense_Mutation_p.S155F|CTD-2510F5.6_ENST00000577660.1_Intron			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	155					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding			NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						CTCCTCACCTCCATCTGTGAC	0.547000													10	23					0	0	1	0	0
EXPH5	23086	broad.mit.edu	37	11	108382802	108382802	+	Silent	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr11:108382802G>A	ENST00000265843.4	-	6	3542	c.3432C>T	c.(3430-3432)acC>acT	p.T1144T	EXPH5_ENST00000525344.1_Silent_p.T1137T|EXPH5_ENST00000428840.1_Silent_p.T1068T|EXPH5_ENST00000443411.1_Silent_p.T956T	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	1144					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		CCATGCCTGAGGTCAATGGCT	0.468000													14	26					0	0	1	0	0
LILRB1	10859	broad.mit.edu	37	19	55142732	55142732	+	Silent	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr19:55142732G>A	ENST00000396331.1	+	4	402	c.45G>A	c.(43-45)ctG>ctA	p.L15L	LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000324602.7_Silent_p.L15L|LILRB1_ENST00000434867.2_Silent_p.L15L|LILRB1_ENST00000427581.2_Silent_p.L51L|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396327.3_Silent_p.L15L|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000396332.4_Silent_p.L15L|LILRB1_ENST00000396315.1_Silent_p.L15L|LILRB1_ENST00000396317.1_Silent_p.L15L	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	15					regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		GGCTGAGTCTGGGCCCCAGGA	0.672000										HNSCC(37;0.09)			48	70					0	0	1	0	0
KCNE1	3753	broad.mit.edu	37	21	35821823	35821823	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr21:35821823C>T	ENST00000337385.3	-	3	485	c.110G>A	c.(109-111)aGc>aAc	p.S37N	KCNE1_ENST00000416357.2_Missense_Mutation_p.S37N|KCNE1_ENST00000432085.1_Missense_Mutation_p.S37N|KCNE1_ENST00000399289.3_Missense_Mutation_p.S37N|KCNE1_ENST00000399286.2_Missense_Mutation_p.S37N|KCNE1_ENST00000399284.1_Missense_Mutation_p.S37N	NM_001270402.1|NM_001270403.1	NP_001257331.1|NP_001257332.1	P15382	KCNE1_HUMAN	potassium voltage-gated channel, Isk-related family, member 1	37					blood circulation|membrane depolarization|muscle contraction|sensory perception of sound	lysosome	delayed rectifier potassium channel activity|potassium channel regulator activity			large_intestine(4)|lung(1)|ovary(2)	7					Indapamide(DB00808)	GCCGTCACTGCTGCGGGGGGA	0.607000													30	35					0	0	1	0	0
FAM183A	440585	broad.mit.edu	37	1	43613744	43613744	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:43613744C>T	ENST00000335282.4	+	1	122	c.122C>T	c.(121-123)cCc>cTc	p.P41L	FAM183A_ENST00000410048.1_Intron|FAM183A_ENST00000409337.1_3'UTR	NM_001101376.2	NP_001094846.2	A6NL82	F183A_HUMAN	family with sequence similarity 183, member A	41										kidney(1)|large_intestine(1)|lung(2)|ovary(3)	7						CACGTGAATCCCCTCCGCAAG	0.622000													17	47					0	0	1	0	0
KLHL21	9903	broad.mit.edu	37	1	6653669	6653669	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:6653669G>A	ENST00000377658.4	-	4	1601	c.1550C>T	c.(1549-1551)tCt>tTt	p.S517F	KLHL21_ENST00000467612.1_Missense_Mutation_p.S150F|KLHL21_ENST00000377663.3_3'UTR	NM_014851.2	NP_055666.2	Q9UJP4	KLH21_HUMAN	kelch-like family member 21	517					anaphase|cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|cytoplasm|polar microtubule				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|prostate(2)	8	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.4e-05)|Kidney(185;4.95e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000528)|KIRC - Kidney renal clear cell carcinoma(229;0.000927)|STAD - Stomach adenocarcinoma(132;0.0172)|READ - Rectum adenocarcinoma(331;0.0644)		GTATCCCCCAGAGACGTACAG	0.622000													22	27					0	0	1	0	0
TUBA3C	7278	broad.mit.edu	37	13	19752497	19752497	+	Missense_Mutation	SNP	G	G	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr13:19752497G>T	ENST00000400113.3	-	3	368	c.264C>A	c.(262-264)caC>caA	p.H88Q		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	88					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		GCTGCTCTGGGTGGAAGAGCT	0.512000													3	80					1	1	1	1	0
FAAH2	158584	broad.mit.edu	37	X	57358218	57358218	+	Silent	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chrX:57358218G>A	ENST00000374900.4	+	4	720	c.600G>A	c.(598-600)caG>caA	p.Q200Q		NM_174912.3	NP_777572.2	Q6GMR7	FAAH2_HUMAN	fatty acid amide hydrolase 2	200						integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity			endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						ATGATTTACAGCATATTGTAG	0.358000										HNSCC(52;0.14)			75	10					0	0	1	0	0
BTK	695	broad.mit.edu	37	X	100617189	100617189	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chrX:100617189G>A	ENST00000308731.7	-	7	723	c.560C>T	c.(559-561)cCt>cTt	p.P187L	BTK_ENST00000372880.1_Missense_Mutation_p.P187L	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	187					calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TGGGGGAAGAGGCTTTTTTGT	0.488000									Agammaglobulinemia, X-linked				37	4					0	0	1	0	0
PTPRK	5796	broad.mit.edu	37	6	128304509	128304509	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr6:128304509G>A	ENST00000368227.3	-	24	3682	c.3316C>T	c.(3316-3318)Cga>Tga	p.R1106*	PTPRK_ENST00000368210.3_Nonsense_Mutation_p.R1107*|PTPRK_ENST00000368213.5_Nonsense_Mutation_p.R1095*|PTPRK_ENST00000532331.1_Nonsense_Mutation_p.R1111*|PTPRK_ENST00000368207.3_Nonsense_Mutation_p.R1121*|PTPRK_ENST00000368215.3_Nonsense_Mutation_p.R1088*|PTPRK_ENST00000368226.4_Nonsense_Mutation_p.R1089*			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	1088	Tyrosine-protein phosphatase 1.				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		CAGCCAGTTCGTCCAGCACCA	0.383000													43	50					0	0	1	0	0
OR5M9	390162	broad.mit.edu	37	11	56230698	56230698	+	Silent	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr11:56230698G>A	ENST00000279791.1	-	1	179	c.180C>T	c.(178-180)ttC>ttT	p.F60F		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	60					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					GATGACTCAGGAAAAAGTACA	0.423000													21	26					0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24790365	24790365	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr10:24790365C>T	ENST00000376451.2	+	4	1201	c.941C>T	c.(940-942)cCc>cTc	p.P314L	KIAA1217_ENST00000376452.3_Missense_Mutation_p.P596L|KIAA1217_ENST00000376454.3_Missense_Mutation_p.P631L|KIAA1217_ENST00000430453.2_Missense_Mutation_p.P517L|KIAA1217_ENST00000458595.1_Missense_Mutation_p.P596L|KIAA1217_ENST00000307544.6_Missense_Mutation_p.P314L|KIAA1217_ENST00000396445.1_Missense_Mutation_p.P314L|KIAA1217_ENST00000396446.1_Missense_Mutation_p.P314L|KIAA1217_ENST00000376462.1_Missense_Mutation_p.P551L			Q5T5P2	SKT_HUMAN	KIAA1217	631	Pro-rich.				embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						ACGGTGCCTCCCAGCCAGCCT	0.597000													23	7					0	0	1	0	0
OAS2	4939	broad.mit.edu	37	12	113424971	113424971	+	Silent	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr12:113424971G>A	ENST00000392583.2	+	2	513	c.306G>A	c.(304-306)ggG>ggA	p.G102G	RP1-71H24.1_ENST00000552784.1_RNA|OAS2_ENST00000449768.2_Silent_p.G102G|OAS2_ENST00000342315.4_Silent_p.G102G	NM_002535.2	NP_002526.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	102	OAS domain 1.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						ATAAAACTGGGGATAAGCTGA	0.438000													31	41					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179616605	179616605	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr2:179616605G>A	ENST00000360870.5	-	46	10744	c.10522C>T	c.(10522-10524)Cag>Tag	p.Q3508*	TTN_ENST00000342992.6_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000578746.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	3507	Ig-like 21.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTAAGTTTCTGGGTAAAAGAA	0.358000													26	50					0	0	1	0	0
PATE1	160065	broad.mit.edu	37	11	125618496	125618496	+	Splice_Site	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr11:125618496G>A	ENST00000305738.5	+	5	261	c.247_splice	c.e5-1	p.R83_splice	PATE1_ENST00000437148.2_Splice_Site_p.R71_splice	NM_138294.2	NP_612151.1	Q8WXA2	PATE1_HUMAN	prostate and testis expressed 1	83						extracellular region				large_intestine(1)|lung(5)	6						CCTCCACAGGGGATGGTAATC	0.448000													21	28					0	0	1	0	0
ZNF425	155054	broad.mit.edu	37	7	148800729	148800729	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr7:148800729G>A	ENST00000378061.2	-	4	2366	c.2234C>T	c.(2233-2235)gCc>gTc	p.A745V		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	745					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CTTCTCTTTGGCATGCACTGC	0.572000													17	22					0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	118950229	118950229	+	Silent	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr9:118950229C>T	ENST00000328252.3	+	2	1581	c.1212C>T	c.(1210-1212)tcC>tcT	p.S404S		NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	404	Metalloprotease.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						GCAACTCCTCCCTTCGCCGCC	0.617000													34	13					0	0	1	0	0
SCN3A	6328	broad.mit.edu	37	2	166011006	166011006	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr2:166011006G>A	ENST00000360093.3	-	11	1827	c.1336C>T	c.(1336-1338)Cag>Tag	p.Q446*	SCN3A_ENST00000409101.3_Nonsense_Mutation_p.Q446*|SCN3A_ENST00000283254.7_Nonsense_Mutation_p.Q446*	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	446						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	AGCATCTGCTGAAATTCGGCC	0.398000													38	34					0	0	1	0	0
GJB5	2709	broad.mit.edu	37	1	35223414	35223414	+	Silent	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr1:35223414G>A	ENST00000338513.1	+	2	656	c.483G>A	c.(481-483)gtG>gtA	p.V161V		NM_005268.3	NP_005259.1	O95377	CXB5_HUMAN	gap junction protein, beta 5, 31.1kDa	161					cell communication|epidermis development	connexon complex|integral to membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)	10		Myeloproliferative disorder(586;0.0393)				TCCCTCCTGTGGTCAAGTGCC	0.507000													24	20					0	0	1	0	0
MAP3K19	80122	broad.mit.edu	37	2	135744095	135744095	+	Missense_Mutation	SNP	T	T	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr2:135744095T>A	ENST00000375845.3	-	7	2377	c.2347A>T	c.(2347-2349)Att>Ttt	p.I783F	MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000358371.4_Missense_Mutation_p.I670F|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392915.1_Missense_Mutation_p.I800F|MAP3K19_ENST00000392918.3_Intron	NM_025052.3	NP_079328.3			mitogen-activated protein kinase kinase kinase 19																		ATGGGATGAATTTCATCTTTG	0.393000													28	38					0	0	1	0	0
OR10A7	121364	broad.mit.edu	37	12	55615707	55615707	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr12:55615707C>T	ENST00000326258.1	+	1	899	c.899C>T	c.(898-900)gCt>gTt	p.A300V		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	300					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						GTGAAAGGGGCTGTCAAGAGG	0.438000													21	42					0	0	1	0	0
KRT18	3875	broad.mit.edu	37	12	53345319	53345319	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr12:53345319G>A	ENST00000550600.1	+	5	766	c.712G>A	c.(712-714)Gat>Aat	p.D238N	KRT18_ENST00000388837.2_Missense_Mutation_p.D238N|KRT18_ENST00000388835.3_Missense_Mutation_p.D238N			P05783	K1C18_HUMAN	keratin 18	238	Linker 12.|Necessary for interaction with PNN.|Rod.	Cleavage; by caspase-3, caspase-6 or caspase-7.			anatomical structure morphogenesis|cell cycle|Golgi to plasma membrane CFTR protein transport|interspecies interaction between organisms|negative regulation of apoptosis	centriolar satellite|keratin filament|perinuclear region of cytoplasm	protein binding|structural molecule activity			central_nervous_system(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	11						CGTGGAGGTAGATGCCCCCAA	0.552000													33	23					0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166908336	166908336	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr2:166908336G>A	ENST00000423058.2	-	6	874	c.857C>T	c.(856-858)tCc>tTc	p.S286F	AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.S286F|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.S286F|SCN1A_ENST00000303395.4_Missense_Mutation_p.S286F|AC010127.3_ENST00000599041.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	286						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)	TTCCTCCAAGGAAGCATTGGT	0.383000													30	23					0	0	1	0	0
AC010745.2	0	broad.mit.edu	37	2	16409482	16409483	+	RNA	INS	-	-	C	rs142105920	by1000genomes	TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr2:16409482_16409483insC	ENST00000420404.1	+	0	289																											TCCTTCCTGGGaccccgccccg	0.604													5	3	---	---	---	---					
FAM198B	51313	broad.mit.edu	37	4	159091487	159091489	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr4:159091487_159091489delGCT	ENST00000393807.5	-	3	1327_1329	c.921_923delAGC	c.(919-924)gcg>gc	p.AA307del	FAM198B_ENST00000585682.1_Intron|FAM198B_ENST00000296530.8_Intron|FAM198B_ENST00000589306.1_Intron|FAM198B_ENST00000592057.1_3'UTR	NM_001031700.2	NP_001026870.2	Q6UWH4	F198B_HUMAN	family with sequence similarity 198, member B	307						Golgi membrane|integral to membrane				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						GGAAAGACACGCTGCTGCTGCTG	0.458													7	46	---	---	---	---					
GRM1	2911	broad.mit.edu	37	6	146755399	146755401	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr6:146755399_146755401delCAG	ENST00000361719.2	+	9	3522_3524	c.3052_3054delCAG	c.(3052-3054)del	p.Q1022del	GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000282753.1_In_Frame_Del_p.Q1022del|GRM1_ENST00000355289.4_3'UTR	NM_001278064.1	NP_001264993.1	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	1022	Gln/Pro-rich.				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	CCCTCCTCTCCAGCAGCAGCAGC	0.660													8	268	---	---	---	---					
SFRP1	6422	broad.mit.edu	37	8	41166638	41166640	+	In_Frame_Del	DEL	GCT	GCT	-	rs3055861		TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr8:41166638_41166640delGCT	ENST00000220772.3	-	1	376_378	c.39_41delAGC	c.(37-42)gcc>gc	p.AA13del		NM_003012.4	NP_003003.3	Q8N474	SFRP1_HUMAN	secreted frizzled-related protein 1	13					brain development|canonical Wnt receptor signaling pathway|cellular response to BMP stimulus|cellular response to estradiol stimulus|cellular response to fibroblast growth factor stimulus|cellular response to heparin|cellular response to hypoxia|cellular response to interleukin-1|cellular response to prostaglandin E stimulus|cellular response to starvation|cellular response to transforming growth factor beta stimulus|cellular response to tumor necrosis factor|cellular response to vitamin D|DNA fragmentation involved in apoptotic nuclear change|dorsal/ventral axis specification|hemopoietic progenitor cell differentiation|hemopoietic stem cell differentiation|menstrual cycle phase|negative regulation of androgen receptor signaling pathway|negative regulation of B cell differentiation|negative regulation of bone remodeling|negative regulation of canonical Wnt receptor signaling pathway involved in controlling type B pancreatic cell proliferation|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cysteine-type endopeptidase activity|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast apoptosis|negative regulation of fibroblast proliferation|negative regulation of insulin secretion|negative regulation of ossification|negative regulation of osteoblast proliferation|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|osteoblast differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell growth|positive regulation of epithelial cell proliferation|positive regulation of fat cell differentiation|positive regulation of fibroblast apoptosis|positive regulation of focal adhesion assembly|positive regulation of non-canonical Wnt receptor signaling pathway|positive regulation of Rac GTPase activity|positive regulation of smoothened signaling pathway|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|regulation of angiogenesis|regulation of cell cycle process|response to drug|response to organic cyclic compound|vasculature development	cell surface|cytosol|extracellular space|plasma membrane|proteinaceous extracellular matrix	cysteine-type endopeptidase activity|drug binding|frizzled binding|heparin binding|identical protein binding|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|large_intestine(2)|liver(1)|lung(1)|skin(1)	7	Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211)	all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559)	BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174)			CACGCCCAGGGCTGCCCCGCGGC	0.764													6	4	---	---	---	---					
PRKDC	5591	broad.mit.edu	37	8	48746799	48746799	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr8:48746799delT	ENST00000314191.2	-	60	8163	c.8107delA	c.(8107-8109)ggfs	p.R2703fs	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Frame_Shift_Del_p.R2703fs	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2704	KIP-binding.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				AGGCCCAGCCTTTTTTTCCCA	0.498								Non-homologous end-joining					8	430	---	---	---	---					
AQP3	360	broad.mit.edu	37	9	33442435	33442435	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr9:33442435delC	ENST00000297991.4	-	5	654	c.574delG	c.(574-576)ccfs	p.A192fs	AQP3_ENST00000493581.1_5'UTR	NM_004925.4	NP_004916.1	Q92482	AQP3_HUMAN	aquaporin 3 (Gill blood group)	192					excretion|odontogenesis|positive regulation of immune system process|regulation of keratinocyte differentiation|response to calcium ion|response to retinoic acid|response to vitamin D	basolateral plasma membrane|cell-cell junction|cytoplasm	glycerol channel activity|water channel activity			endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.0899)		ACGGTGAAGGCCTCCAGGCCT	0.622													2	4	---	---	---	---					
PTCH1	5727	broad.mit.edu	37	9	98211549	98211549	+	Frame_Shift_Del	DEL	G	G	-	rs138240178	byFrequency	TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr9:98211549delG	ENST00000430669.2	-	22	3993	c.3408delC	c.(3406-3408)ccfs	p.P1136fs	PTCH1_ENST00000437951.1_Frame_Shift_Del_p.P1136fs|PTCH1_ENST00000418258.1_Frame_Shift_Del_p.P1051fs|PTCH1_ENST00000421141.1_Frame_Shift_Del_p.P1051fs|PTCH1_ENST00000429896.2_Frame_Shift_Del_p.P1051fs|PTCH1_ENST00000375274.2_Frame_Shift_Del_p.P1201fs|PTCH1_ENST00000331920.6_Frame_Shift_Del_p.P1202fs			Q13635	PTC1_HUMAN	patched 1	1202					embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	p.S1203fs*52(2)|p.S1202fs*52(1)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				GGACCACGCTGGGGGGTGGCT	0.597													2	4	---	---	---	---					
DDIT4	54541	broad.mit.edu	37	10	74034674	74034675	+	Frame_Shift_Ins	INS	-	-	G	rs11539950		TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr10:74034674_74034675insG	ENST00000307365.3	+	3	628_629	c.427_428insG	c.(427-429)gggfs	p.G143fs	RP11-442H21.2_ENST00000491934.2_RNA	NM_019058.2	NP_061931.1	Q9NX09	DDIT4_HUMAN	DNA-damage-inducible transcript 4	143					apoptosis			p.R143W(1)		cervix(1)|endometrium(2)|lung(5)|pancreas(1)|prostate(2)|urinary_tract(1)	12						GTGCGGCCTGCGGGGGGCGCTG	0.693											OREG0020262	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	32	9	---	---	---	---					
LDHA	3939	broad.mit.edu	37	11	18418438	18418439	+	Frame_Shift_Ins	INS	-	-	AG			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr11:18418438_18418439insAG	ENST00000422447.3	+	2	322_323	c.49_50insAG	c.(49-51)gacfs	p.D17fs	LDHA_ENST00000227157.4_Frame_Shift_Ins_p.D17fs|LDHA_ENST00000430553.2_Frame_Shift_Ins_p.D17fs|LDHA_ENST00000396222.2_Frame_Shift_Ins_p.D17fs|LDHA_ENST00000379412.5_Frame_Shift_Ins_p.D17fs|LDHA_ENST00000542179.1_Frame_Shift_Ins_p.D17fs|LDHA_ENST00000540430.1_Frame_Shift_Ins_p.D46fs	NM_001135239.1|NM_005566.3	NP_001128711.1|NP_005557.1	P00338	LDHA_HUMAN	lactate dehydrogenase A	17					glycolysis|pyruvate metabolic process	cytosol	L-lactate dehydrogenase activity|protein binding			central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(4)	12					NADH(DB00157)	AAAGGAAGAACAGACCCCCCAG	0.421													32	42	---	---	---	---					
MALAT1	378938	broad.mit.edu	37	11	65271780	65271780	+	RNA	DEL	T	T	-	rs36002528		TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr11:65271780delT	ENST00000534336.1	+	0	6548					NR_002819.2																						TTGTTGTAGCTTTTTTTTTTT	0.433													6	10	---	---	---	---					
RP11-863P13.2	0	broad.mit.edu	37	16	88226545	88226545	+	RNA	DEL	G	G	-			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chr16:88226545delG	ENST00000568587.1	-	0	91																											tgatagtgatgatggtgatga	0.498													2	4	---	---	---	---					
RP13-297E16.4	0	broad.mit.edu	37	X	1854089	1854091	+	RNA	DEL	CCT	CCT	-			TCGA-BF-A3DM-01A-11D-A20D-08	TCGA-BF-A3DM-10A-02D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f148159d-c437-4583-a4cf-e124da3ea34f	3bbd9f16-3bf2-4aeb-a3fa-22475ab24326	g.chrX:1854089_1854091delCCT	ENST00000427886.1	+	0	387																											ccttcccttccctcctcctcctc	0.626													4	3	---	---	---	---