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
XRCC5	7520	broad.mit.edu	37	2	217012886	217012886	+	Silent	SNP	C	C	G	rs141533226		TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr2:217012886C>G	ENST00000392133.3	+	16	2018	c.1557C>G	c.(1555-1557)ccC>ccG	p.P519P	XRCC5_ENST00000392132.2_Silent_p.P519P			P13010	XRCC5_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)	519	Pro-rich.				double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent	Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm	ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding	p.P519P(1)		endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)		TGAATCCTCCCGCTGAGGTGA	0.443000								Non-homologous end-joining					4	135					0	0	0.00024832	0	0
SP8	221833	broad.mit.edu	37	7	20824767	20824767	+	Silent	SNP	G	G	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr7:20824767G>A	ENST00000361443.4	-	3	852	c.615C>T	c.(613-615)gcC>gcT	p.A205A	SP8_ENST00000418710.2_Silent_p.A223A	NM_198956.2	NP_945194.1	Q8IXZ3	SP8_HUMAN	Sp8 transcription factor	205					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A223A(1)|p.A205A(1)		NS(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	8						TGGAGGCGCCGGCCGAGCCCA	0.746000													9	3					0	0	3.86212e-05	0	0
ITGA6	3655	broad.mit.edu	37	2	173337571	173337571	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr2:173337571G>C	ENST00000375221.2	+	6	1048	c.845G>C	c.(844-846)cGg>cCg	p.R282P	ITGA6_ENST00000264106.6_Missense_Mutation_p.R282P|ITGA6_ENST00000409080.1_Intron|ITGA6_ENST00000343713.4_Missense_Mutation_p.R238P|ITGA6_ENST00000264107.7_Intron|ITGA6_ENST00000409532.1_Missense_Mutation_p.R124P			P23229	ITA6_HUMAN	integrin, alpha 6	282					blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			CGGCCTCCCCGGGAGCAGCCT	0.458000													5	143					0	0	8.12818e-05	0	0
WDR35	57539	broad.mit.edu	37	2	20145669	20145669	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr2:20145669C>A	ENST00000345530.3	-	17	1871	c.1756G>T	c.(1756-1758)Gga>Tga	p.G586*	WDR35_ENST00000416055.2_Nonsense_Mutation_p.G151*|WDR35_ENST00000281405.4_Nonsense_Mutation_p.G575*	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	586								p.G586*(1)		breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AACAACTCTCCAACTACTTGC	0.413000													9	185					0.000274275	0.0062264	0.000274275	1	0
CIITA	4261	broad.mit.edu	37	16	11002979	11002979	+	Silent	SNP	C	C	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr16:11002979C>T	ENST00000324288.8	+	12	2884	c.2751C>T	c.(2749-2751)atC>atT	p.I917I	CIITA_ENST00000537380.1_Intron|CIITA_ENST00000381835.5_Silent_p.I333I	NM_000246.3	NP_000237.2	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	917					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding	p.I917I(1)		central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						AGTTCACCATCGAGCCTTTCA	0.592000			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """								20	13					0	0	0.000175454	0	0
NINL	22981	broad.mit.edu	37	20	25456719	25456719	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr20:25456719G>C	ENST00000278886.6	-	17	3281	c.3208C>G	c.(3208-3210)Cgg>Ggg	p.R1070G	NINL_ENST00000422516.1_Intron	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	1070					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding	p.R1070G(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						TCCAGAGCCCGGACGACGTCT	0.463000													4	122					0	0	3.59834e-05	0	0
OR2L3	391192	broad.mit.edu	37	1	248224550	248224550	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:248224550G>T	ENST00000359959.3	+	1	567	c.567G>T	c.(565-567)atG>atT	p.M189I	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	189					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M189N(1)		cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			TGGCCTGCATGGACACCTGGG	0.478000													79	70					9.90312e-32	2.91548e-30	0.000147903	1	0
COL6A5	256076	broad.mit.edu	37	3	130095223	130095223	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr3:130095223C>G	ENST00000265379.6	+	3	705	c.211C>G	c.(211-213)Ctg>Gtg	p.L71V	COL6A5_ENST00000432398.2_Missense_Mutation_p.L71V			A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	71	Nonhelical region.|VWFA 1.				axon guidance|cell adhesion	collagen		p.L71V(1)		endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						CCGTGTAGCCCTGGCCCAGTA	0.483000													3	33					0	0	0.00024832	0	0
KCNK16	83795	broad.mit.edu	37	6	39285675	39285675	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr6:39285675A>G	ENST00000425054.2	-	3	381	c.382T>C	c.(382-384)Tat>Cat	p.Y128H	KCNK16_ENST00000437525.2_Missense_Mutation_p.Y128H|KCNK16_ENST00000507712.1_Missense_Mutation_p.Y63H|KCNK16_ENST00000373227.4_Missense_Mutation_p.Y128H|KCNK16_ENST00000373229.5_Missense_Mutation_p.Y128H	NM_001135105.1	NP_001128577.1	Q96T55	KCNKG_HUMAN	potassium channel, subfamily K, member 16	128						integral to membrane	potassium channel activity|voltage-gated ion channel activity	p.Y128H(2)		large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)	13						AACAGGGCATAGAAGACACAG	0.587000													15	25					0	0	0.000422831	0	0
LAMA3	3909	broad.mit.edu	37	18	21453131	21453131	+	Silent	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr18:21453131C>G	ENST00000269217.6	+	1	328	c.123C>G	c.(121-123)ccC>ccG	p.P41P	LAMA3_ENST00000587184.1_Silent_p.P41P|LAMA3_ENST00000313654.9_Intron|LAMA3_ENST00000399516.3_Intron	NM_000227.3	NP_000218.2	Q16787	LAMA3_HUMAN	laminin, alpha 3	0					cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTCAGCCTCCCGGTCAAAGTC	0.522000													7	314					0	0	0.000442599	0	0
RDH14	57665	broad.mit.edu	37	2	18736716	18736716	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr2:18736716C>G	ENST00000381249.3	-	2	859	c.752G>C	c.(751-753)cGg>cCg	p.R251P	RDH14_ENST00000468071.1_5'UTR	NM_020905.3	NP_065956.1			retinol dehydrogenase 14 (all-trans/9-cis/11-cis)											breast(2)|endometrium(1)|large_intestine(2)|lung(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)					CAGATTTGTCCGTACAATACC	0.478000													5	214					0	0	3.59834e-05	0	0
FBXO4	26272	broad.mit.edu	37	5	41939605	41939605	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr5:41939605T>C	ENST00000281623.3	+	6	1017	c.961T>C	c.(961-963)Tcg>Ccg	p.S321P	FBXO4_ENST00000509134.1_Intron	NM_012176.2	NP_036308.1	Q9UKT5	FBX4_HUMAN	F-box protein 4	321					positive regulation of protein ubiquitination|protein polyubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|telomere maintenance|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	protein binding|protein homodimerization activity|ubiquitin-protein ligase activity	p.S321P(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(11)|prostate(1)|stomach(1)|urinary_tract(2)	27		Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604)				CTTTGGGTCTTCGGGAAGACC	0.373000													251	127					0	0	0.000147903	0	0
LIG1	3978	broad.mit.edu	37	19	48631178	48631178	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr19:48631178G>C	ENST00000263274.7	-	20	2340	c.1921C>G	c.(1921-1923)Cgc>Ggc	p.R641G	LIG1_ENST00000536218.1_Missense_Mutation_p.R573G|LIG1_ENST00000427526.2_Missense_Mutation_p.R610G	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	641					anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding	p.R641G(1)		breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	TTGCGTTTGCGGGTGGTGAGC	0.592000								Nucleotide excision repair (NER)					5	147					0	0	3.59834e-05	0	0
C1orf192	257177	broad.mit.edu	37	1	161335431	161335431	+	Missense_Mutation	SNP	C	C	G	rs149688361	byFrequency	TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:161335431C>G	ENST00000367974.1	-	4	238	c.233G>C	c.(232-234)cGg>cCg	p.R78P		NM_001013625.2	NP_001013647.2	Q5VTH2	CA192_HUMAN	chromosome 1 open reading frame 192	78								p.R78L(1)		endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	10	all_cancers(52;4.64e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			CAGGGTCACCCGAGCAGGGGG	0.517000													6	242					0	0	8.12818e-05	0	0
F11	2160	broad.mit.edu	37	4	187209638	187209638	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr4:187209638A>T	ENST00000264692.4	+	15	1925	c.1592A>T	c.(1591-1593)cAc>cTc	p.H531L	RP11-215A19.1_ENST00000505103.1_RNA|F11_ENST00000403665.2_Missense_Mutation_p.H583L			P03951	FA11_HUMAN	coagulation factor XI	583	Peptidase S1.				blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis	extracellular space|plasma membrane	heparin binding|serine-type endopeptidase activity	p.H583L(1)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	TCCTGCAAACACAATGAGGTC	0.557000													70	115					0	0	0.000147903	0	0
VANGL1	81839	broad.mit.edu	37	1	116202292	116202292	+	Silent	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:116202292C>G	ENST00000355485.2	+	3	373	c.102C>G	c.(100-102)ccC>ccG	p.P34P	VANGL1_ENST00000369509.1_Silent_p.P34P|VANGL1_ENST00000310260.3_Silent_p.P34P|VANGL1_ENST00000369510.3_Silent_p.P34P	NM_001172411.1|NM_138959.2	NP_001165882.1|NP_620409.1	Q8TAA9	VANG1_HUMAN	VANGL planar cell polarity protein 1	34					multicellular organismal development	integral to membrane	protein binding	p.(=)(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(13)|urinary_tract(1)	27	Lung SC(450;0.211)	all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		ACAAGTCACCCCGGAATAAAG	0.443000													6	344					0	0	3.59834e-05	0	0
DNAJC2	27000	broad.mit.edu	37	7	102963026	102963026	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr7:102963026C>T	ENST00000379263.3	-	9	1115	c.865G>A	c.(865-867)Gcc>Acc	p.A289T	PMPCB_ENST00000420236.2_Intron|DNAJC2_ENST00000249270.7_Missense_Mutation_p.A289T	NM_014377.1	NP_055192.1	Q99543	DNJC2_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 2	289					'de novo' cotranslational protein folding|chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane	chromatin binding|DNA binding|histone binding|Hsp70 protein binding|ubiquitin binding	p.A289T(1)		endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1)	21						tctttcttggctttttcttct	0.333000													13	18					0	0	0.00010058	0	0
ASXL1	171023	broad.mit.edu	37	20	31021635	31021635	+	Missense_Mutation	SNP	G	G	C	rs149449801		TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr20:31021635G>C	ENST00000375687.4	+	12	2058	c.1634G>C	c.(1633-1635)cGt>cCt	p.R545P	ASXL1_ENST00000306058.5_Missense_Mutation_p.R540P	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 (Drosophila)	545					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	p.R545P(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						CTTGAAGATCGTCAGTCCTTT	0.522000			"""F, N, Mis"""		"""MDS, CMML"""								45	68					0	0	0.000147903	0	0
ANKRD42	338699	broad.mit.edu	37	11	82922342	82922342	+	Silent	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr11:82922342C>G	ENST00000393389.3	+	5	1388	c.456C>G	c.(454-456)ccC>ccG	p.P152P	ANKRD42_ENST00000533342.1_Silent_p.P152P|ANKRD42_ENST00000260047.6_Silent_p.P151P|ANKRD42_ENST00000393392.2_Silent_p.P124P|RP11-727A23.7_ENST00000531869.1_RNA|ANKRD42_ENST00000526731.1_Silent_p.P152P|ANKRD42_ENST00000528722.1_Silent_p.P39P|ANKRD42_ENST00000531895.1_Silent_p.P152P			Q8N9B4	ANR42_HUMAN	ankyrin repeat domain 42	124								p.P124P(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						TCTAGGATCCCAGTGTGACTG	0.433000													6	162					0	0	0.000157383	0	0
PRKDC	5591	broad.mit.edu	37	8	48748977	48748977	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr8:48748977G>A	ENST00000314191.2	-	59	7926	c.7870C>T	c.(7870-7872)Ctc>Ttc	p.L2624F	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.L2624F	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2625	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	p.L2625F(1)|p.L2624F(1)		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)				CGAGCTGAGAGGGACCCTTCC	0.592000								Non-homologous end-joining					5	10					0	0	8.12818e-05	0	0
GP5	2814	broad.mit.edu	37	3	194117476	194117476	+	Silent	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr3:194117476C>G	ENST00000401815.1	-	1	1607	c.1536G>C	c.(1534-1536)acG>acC	p.T512T	GP5_ENST00000323007.3_Silent_p.T512T			P40197	GPV_HUMAN	glycoprotein V (platelet)	512					blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane		p.T512T(2)		breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		GACCTTTGCCCGTGGTCACCG	0.567000													4	158					0	0	1.23904e-05	0	0
FMN1	342184	broad.mit.edu	37	15	33191088	33191088	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr15:33191088C>G	ENST00000334528.9	-	11	2991	c.2992G>C	c.(2992-2994)Ggg>Cgg	p.G998R	FMN1_ENST00000561249.1_Missense_Mutation_p.G1123R|FMN1_ENST00000559047.1_Missense_Mutation_p.G1221R	NM_001103184.2	NP_001096654.1	Q68DA7	FMN1_HUMAN	formin 1	1221	FH2.				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding	p.G998R(1)|p.G1221R(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		AGATTAATCCCATTATCCTAG	0.358000													5	122					0	0	3.59834e-05	0	0
HJURP	55355	broad.mit.edu	37	2	234750475	234750475	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr2:234750475C>G	ENST00000411486.2	-	8	1016	c.951G>C	c.(949-951)caG>caC	p.Q317H	HJURP_ENST00000441687.1_Missense_Mutation_p.Q232H|HJURP_ENST00000432087.1_Missense_Mutation_p.Q263H	NM_018410.3	NP_060880.3	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	317					cell cycle|CenH3-containing nucleosome assembly at centromere|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly	condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm	DNA binding|histone binding	p.Q317H(1)		NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		TGGAGCTCCTCTGAGAACGTC	0.463000													21	19					0	0	0.000175454	0	0
ANKAR	150709	broad.mit.edu	37	2	190606123	190606123	+	Silent	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr2:190606123C>G	ENST00000520309.1	+	20	3844	c.3756C>G	c.(3754-3756)acC>acG	p.T1252T	ANKAR_ENST00000438402.2_3'UTR|ANKAR_ENST00000281412.6_3'UTR|ANKAR_ENST00000313581.4_Silent_p.T1252T|ANKAR_ENST00000431575.2_Silent_p.T1181T	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	1252						integral to membrane	binding	p.T1252T(1)|p.T1181T(1)		breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			AAGCATTTACCACATTAGGAA	0.318000													4	107					0	0	3.59834e-05	0	0
UMPS	7372	broad.mit.edu	37	3	124449388	124449388	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr3:124449388G>T	ENST00000232607.2	+	1	176	c.70G>T	c.(70-72)Ggg>Tgg	p.G24W	UMPS_ENST00000413078.2_5'UTR|UMPS_ENST00000538242.1_5'UTR|UMPS_ENST00000536109.1_5'UTR	NM_000373.3	NP_000364.1	P11172	UMPS_HUMAN	uridine monophosphate synthetase	24	OPRTase.				'de novo' pyrimidine base biosynthetic process|'de novo' UMP biosynthetic process|pyrimidine nucleoside biosynthetic process	cytosol|nucleus	orotate phosphoribosyltransferase activity|orotidine-5'-phosphate decarboxylase activity	p.G24W(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(114;0.146)		TTTCAAGTTTGGGGACTTCGT	0.592000													29	64					2.65835e-16	7.17651e-15	0.000184323	1	0
THRA	7067	broad.mit.edu	37	17	38244622	38244622	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr17:38244622G>C	ENST00000450525.2	+	8	1342	c.851G>C	c.(850-852)cGg>cCg	p.R284P	THRA_ENST00000264637.4_Missense_Mutation_p.R284P|THRA_ENST00000394121.4_Missense_Mutation_p.R284P|THRA_ENST00000584985.1_Missense_Mutation_p.R284P|THRA_ENST00000546243.1_Missense_Mutation_p.R284P	NM_199334.3	NP_955366.1	P10827	THA_HUMAN	thyroid hormone receptor, alpha	284	Ligand-binding.				negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter	cytosol|nucleoplasm	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	p.R284P(2)		endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Levothyroxine(DB00451)|Liothyronine(DB00279)	GCTGTCAAGCGGGAGCAGCTC	0.607000													4	48					0	0	0.00024832	0	0
COL11A2	1302	broad.mit.edu	37	6	33133723	33133723	+	Silent	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr6:33133723G>T	ENST00000341947.2	-	62	4694	c.4467C>A	c.(4465-4467)ggC>ggA	p.G1489G	COL11A2_ENST00000357486.1_Silent_p.G1468G|COL11A2_ENST00000374712.1_Silent_p.G1408G|COL11A2_ENST00000374714.1_Silent_p.G1463G|COL11A2_ENST00000374713.1_Silent_p.G1442G|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000374708.4_Silent_p.G1403G|COL11A2_ENST00000361917.1_Silent_p.G1382G|COL11A2_ENST00000395197.1_Silent_p.G1429G	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1489	Triple-helical region.				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	p.G1489G(1)		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						GTCCTGGAGGGCCCTGCACAC	0.607000													10	20					7.48243e-07	1.84215e-05	0.000442599	1	0
SH3RF1	57630	broad.mit.edu	37	4	170190190	170190190	+	Silent	SNP	C	C	G	rs141769951		TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr4:170190190C>G	ENST00000284637.9	-	2	515	c.174G>C	c.(172-174)tcG>tcC	p.S58S	SH3RF1_ENST00000508685.1_5'UTR	NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	58						Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding	p.S58S(1)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		CCTCGACACCCGAGCCAACAA	0.537000													3	50					0	0	6.4e-05	0	0
CDC7	8317	broad.mit.edu	37	1	91967324	91967324	+	Silent	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:91967324C>G	ENST00000428239.1	+	2	310	c.51C>G	c.(49-51)ccC>ccG	p.P17P	CDC7_ENST00000497611.1_3'UTR|CDC7_ENST00000234626.6_Silent_p.P17P|CDC7_ENST00000430031.2_Silent_p.P17P	NM_001134420.1	NP_001127892.1	O00311	CDC7_HUMAN	cell division cycle 7	17					cell cycle checkpoint|cell division|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|positive regulation of cell proliferation|regulation of S phase	cytoplasm|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.P17P(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2)	23		all_lung(203;0.0165)|Lung NSC(277;0.0562)		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)		CTTTTTCTCCCCAGCGTGACC	0.438000													7	486					0	0	0.000442599	0	0
RAB11FIP5	26056	broad.mit.edu	37	2	73303311	73303311	+	Splice_Site	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr2:73303311C>A	ENST00000258098.6	-	4	1809		c.e4-1		RAB11FIP5_ENST00000493523.2_Splice_Site	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)						protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding	p.?(1)		biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						GGGGTGGGGACTGCAAAGACA	0.627000													54	76					1.19403e-26	3.44276e-25	0.000147903	1	0
ESPL1	9700	broad.mit.edu	37	12	53682997	53682997	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr12:53682997G>C	ENST00000257934.4	+	21	4923	c.4832G>C	c.(4831-4833)cGg>cCg	p.R1611P	ESPL1_ENST00000552462.1_Missense_Mutation_p.R1611P	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1611					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding	p.R1611P(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						CTGGGCCACCGGGATCCTTAT	0.602000													4	164					0	0	0.00024832	0	0
GRM7	2917	broad.mit.edu	37	3	7620936	7620936	+	Silent	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr3:7620936C>G	ENST00000486284.1	+	8	2617	c.2343C>G	c.(2341-2343)ccC>ccG	p.P781P	GRM7_ENST00000402647.2_Silent_p.P781P|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000403881.1_Silent_p.P781P|GRM7_ENST00000389336.4_Silent_p.P781P|GRM7_ENST00000357716.4_Silent_p.P781P	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	781					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding	p.P781P(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	GGGGTGTACCCGAGAATTTTA	0.428000													4	68					0	0	1.23904e-05	0	0
DUOXA2	405753	broad.mit.edu	37	15	45408801	45408801	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr15:45408801C>A	ENST00000323030.5	+	4	713	c.428C>A	c.(427-429)gCg>gAg	p.A143E		NM_207581.3	NP_997464.2	Q1HG44	DOXA2_HUMAN	dual oxidase maturation factor 2	143					protein transport	endoplasmic reticulum membrane|integral to membrane		p.A143E(1)					all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;2.88e-18)|GBM - Glioblastoma multiforme(94;3.95e-07)|COAD - Colon adenocarcinoma(120;0.0652)|Colorectal(133;0.0659)		GCGGAGTACGCGAACGCACTG	0.607000													15	29					1.49906e-05	0.000359568	0.000219431	1	0
MLLT10	8028	broad.mit.edu	37	10	22021940	22021940	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr10:22021940G>T	ENST00000377072.3	+	19	2727	c.2379G>T	c.(2377-2379)caG>caT	p.Q793H	MLLT10_ENST00000446906.2_Missense_Mutation_p.Q777H|MLLT10_ENST00000377059.3_Missense_Mutation_p.Q777H|MLLT10_ENST00000307729.7_Missense_Mutation_p.Q777H	NM_004641.3	NP_004632.1	P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	793	Leucine-zipper.|Transactivation domain.				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.Q793H(1)|p.Q777H(1)		NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						TGAATGCACAGCTTTCAGTGC	0.363000			T	"""MLL, PICALM, CDK6"""	AL								24	57					1.12875e-08	2.83893e-07	0.000147802	1	0
MUC16	94025	broad.mit.edu	37	19	9065940	9065940	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr19:9065940G>T	ENST00000397910.4	-	3	21709	c.21506C>A	c.(21505-21507)aCc>aAc	p.T7169N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7171	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.T7169N(2)|p.T2802N(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGTATTTGTGGTGTCCTTGCC	0.507000													48	29					2.9001e-28	8.41391e-27	0.000147903	1	0
ZNF514	84874	broad.mit.edu	37	2	95815548	95815548	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr2:95815548C>G	ENST00000295208.2	-	5	1144	c.682G>C	c.(682-684)Gga>Cga	p.G228R	ZNF514_ENST00000411425.1_Missense_Mutation_p.G228R	NM_032788.1	NP_116177.1	Q96K75	ZN514_HUMAN	zinc finger protein 514	228					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G228R(1)		large_intestine(4)|lung(6)|urinary_tract(1)	11						GGCTTTTCTCCAGTGTGACAT	0.428000													5	223					0	0	3.59834e-05	0	0
LRRN2	10446	broad.mit.edu	37	1	204587055	204587055	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:204587055G>T	ENST00000367175.1	-	1	4278	c.2066C>A	c.(2065-2067)cCc>cAc	p.P689H	LRRN2_ENST00000367177.3_Missense_Mutation_p.P689H|LRRN2_ENST00000367176.3_Missense_Mutation_p.P689H			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	689					cell adhesion	integral to membrane	receptor activity	p.P689H(1)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			TGGATTCCAGGGCAGGACGAG	0.602000													106	36					1.47424e-42	4.44305e-41	0.000147903	1	0
OXSM	54995	broad.mit.edu	37	3	25833265	25833265	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr3:25833265C>G	ENST00000280701.3	+	2	853	c.754C>G	c.(754-756)Cgg>Ggg	p.R252G	OXSM_ENST00000449808.1_3'UTR|OXSM_ENST00000420173.2_Intron	NM_017897.2	NP_060367.1	Q9NWU1	OXSM_HUMAN	3-oxoacyl-ACP synthase, mitochondrial	252					acyl-CoA metabolic process|medium-chain fatty acid biosynthetic process|short-chain fatty acid biosynthetic process	mitochondrion	3-oxoacyl-[acyl-carrier-protein] synthase activity	p.R252G(1)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						TTCCAGAGCCCGGGCTCTGAG	0.478000													4	118					0	0	8.12818e-05	0	0
ZNF623	9831	broad.mit.edu	37	8	144733268	144733268	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr8:144733268G>T	ENST00000501748.2	+	1	1315	c.1226G>T	c.(1225-1227)gGg>gTg	p.G409V	ZNF623_ENST00000526926.1_Missense_Mutation_p.G369V|ZNF623_ENST00000458270.2_Missense_Mutation_p.G369V	NM_014789.3	NP_055604.3	O75123	ZN623_HUMAN	zinc finger protein 623	409					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G409V(1)		endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			AAGGAATGTGGGAAAGCGTTT	0.468000													19	49					6.44725e-10	1.63035e-08	0.000295444	1	0
PCYT1A	5130	broad.mit.edu	37	3	195997346	195997346	+	Silent	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr3:195997346G>C	ENST00000292823.2	-	3	229	c.57C>G	c.(55-57)ccC>ccG	p.P19P	PCYT1A_ENST00000431016.1_Silent_p.P19P|PCYT1A_ENST00000419333.1_Silent_p.P19P|PCYT1A_ENST00000491544.1_5'UTR	NM_005017.2	NP_005008.2	P49585	PCY1A_HUMAN	phosphate cytidylyltransferase 1, choline, alpha	19						cytosol|soluble fraction	choline-phosphate cytidylyltransferase activity			cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1)	18	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00259)	Choline(DB00122)	CGTTGGGTCCGGGCGCCTCTT	0.493000													6	342					0	0	8.12818e-05	0	0
KIAA1755	85449	broad.mit.edu	37	20	36851966	36851966	+	Nonsense_Mutation	SNP	T	T	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr20:36851966T>A	ENST00000279024.4	-	9	2513	c.2242A>T	c.(2242-2244)Aag>Tag	p.K748*		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	748								p.K748*(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				GGGTCGGCCTTCTCGAATTCC	0.607000													11	17					0	0	6.40141e-05	0	0
RPUSD4	84881	broad.mit.edu	37	11	126080928	126080928	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr11:126080928C>G	ENST00000298317.4	-	2	265	c.212G>C	c.(211-213)cGg>cCg	p.R71P	RPUSD4_ENST00000534393.1_5'UTR|RPUSD4_ENST00000533628.1_Missense_Mutation_p.R71P	NM_032795.2	NP_116184.2	Q96CM3	RUSD4_HUMAN	RNA pseudouridylate synthase domain containing 4	71					pseudouridine synthesis		protein binding|pseudouridine synthase activity|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0761)		TTGCACTCTCCGCTGAACAGC	0.572000													6	141					0	0	3.59834e-05	0	0
ZNF548	147694	broad.mit.edu	37	19	57908500	57908500	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr19:57908500C>G	ENST00000366197.5	+	2	350	c.100C>G	c.(100-102)Cgt>Ggt	p.R34G	ZNF548_ENST00000336128.7_Missense_Mutation_p.R46G|AC004076.7_ENST00000597410.1_Intron|AC003002.6_ENST00000596400.1_Intron|AC003002.4_ENST00000597658.1_Intron|ZNF548_ENST00000597400.1_Missense_Mutation_p.R46G|AC003002.6_ENST00000600421.1_3'UTR|ZNF548_ENST00000598895.1_Missense_Mutation_p.R46G	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	34	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ATTGCTGTACCGTGATGTGAT	0.532000													5	238					0	0	0.000157383	0	0
TRANK1	9881	broad.mit.edu	37	3	36873406	36873406	+	Silent	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr3:36873406C>G	ENST00000429976.2	-	21	7783	c.7536G>C	c.(7534-7536)tcG>tcC	p.S2512S	TRANK1_ENST00000301807.6_Silent_p.S1962S|TRANK1_ENST00000428977.2_Silent_p.S1962S			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2512					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						CAGCCTCACCCGAGACCACAT	0.527000													5	97					0	0	3.59834e-05	0	0
ROBO2	6092	broad.mit.edu	37	3	77693982	77693982	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr3:77693982G>C	ENST00000461745.1	+	25	4962	c.4062G>C	c.(4060-4062)caG>caC	p.Q1354H	ROBO2_ENST00000487694.3_Missense_Mutation_p.Q1370H|ROBO2_ENST00000332191.8_Missense_Mutation_p.Q1415H	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	1354					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	p.Q1354H(1)|p.Q1370H(1)		NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CAGGCCACCAGCGCAATGCCA	0.493000													50	66					0	0	0.000147903	0	0
FAT1	2195	broad.mit.edu	37	4	187630249	187630249	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr4:187630249C>T	ENST00000441802.2	-	2	942	c.733G>A	c.(733-735)Gtg>Atg	p.V245M		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	245	Cadherin 2.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	p.V245M(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TCGATGTGCACCGTTAGCTTG	0.512000										HNSCC(5;0.00058)			54	84					0	0	0.000147903	0	0
BOLA1	51027	broad.mit.edu	37	1	149871704	149871704	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:149871704C>G	ENST00000369153.2	+	3	756	c.92C>G	c.(91-93)cCg>cGg	p.P31R	BOLA1_ENST00000476344.1_3'UTR|BOLA1_ENST00000369152.5_Missense_Mutation_p.P31R|BOLA1_ENST00000369150.1_Missense_Mutation_p.P31R			Q9Y3E2	BOLA1_HUMAN	bolA family member 1	31						extracellular region	protein binding	p.P31R(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	10	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			GCCATCGGTCCGGTGGAGGCC	0.692000													3	38					0	0	0.00024832	0	0
ARHGEF37	389337	broad.mit.edu	37	5	148997825	148997825	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr5:148997825C>G	ENST00000333677.6	+	6	908	c.745C>G	c.(745-747)Cgg>Ggg	p.R249G		NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN	Rho guanine nucleotide exchange factor (GEF) 37	249					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	p.R249G(1)		large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						GAAGACCACCCGGCTGAGCCA	0.652000													3	39					0	0	6.4e-05	0	0
STXBP5	134957	broad.mit.edu	37	6	147684611	147684611	+	Missense_Mutation	SNP	C	C	T	rs143796366		TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr6:147684611C>T	ENST00000367481.3	+	22	2686	c.2578C>T	c.(2578-2580)Cgg>Tgg	p.R860W	STXBP5_ENST00000367480.3_Missense_Mutation_p.R843W|STXBP5_ENST00000321680.6_Missense_Mutation_p.R896W|STXBP5_ENST00000179882.6_Missense_Mutation_p.R551W	NM_139244.4	NP_640337.3	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	896					exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding	p.R860W(1)|p.R896W(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		ATTGAAAAAACGGCGGCCTGT	0.438000													11	25					0	0	0.00010058	0	0
STT3A	3703	broad.mit.edu	37	11	125488319	125488319	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr11:125488319G>A	ENST00000392708.4	+	16	1985	c.1826G>A	c.(1825-1827)gGc>gAc	p.G609D	STT3A_ENST00000531491.1_Missense_Mutation_p.G517D|STT3A_ENST00000529196.1_Missense_Mutation_p.G609D	NM_001278503.1|NM_001278504.1|NM_152713.3	NP_001265432.1|NP_001265433.1|NP_689926.1	P46977	STT3A_HUMAN	STT3A, subunit of the oligosaccharyltransferase complex (catalytic)	609					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity	p.G609D(1)		NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	33	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)		ACAGATACAGGCAAACATATC	0.443000													26	54					0	0	9.22233e-05	0	0
SLC8A3	6547	broad.mit.edu	37	14	70633596	70633596	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr14:70633596G>T	ENST00000381269.2	-	2	2297	c.1544C>A	c.(1543-1545)tCc>tAc	p.S515Y	SLC8A3_ENST00000528359.1_Missense_Mutation_p.S515Y|SLC8A3_ENST00000357887.3_Missense_Mutation_p.S515Y|SLC8A3_ENST00000356921.2_Missense_Mutation_p.S515Y|SLC8A3_ENST00000534137.1_Missense_Mutation_p.S515Y	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	515					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	p.S515Y(2)		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)		CACACAAGGGGAGGCTAGGAC	0.498000													21	13					1.96292e-10	4.99082e-09	0.000175454	1	0
GCN1L1	10985	broad.mit.edu	37	12	120578771	120578771	+	Silent	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr12:120578771G>T	ENST00000300648.6	-	45	5898	c.5886C>A	c.(5884-5886)ccC>ccA	p.P1962P		NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1962					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	p.P1962P(1)		NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGATGATCTCGGGGAGGATTT	0.527000													6	159					0.000157383	0.00364379	0.000157383	1	0
RAB11FIP2	22841	broad.mit.edu	37	10	119798562	119798562	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr10:119798562G>C	ENST00000355624.3	-	3	1625	c.1186C>G	c.(1186-1188)Cgc>Ggc	p.R396G	RP11-354M20.3_ENST00000451610.2_RNA|RAB11FIP2_ENST00000369199.3_Missense_Mutation_p.R396G	NM_014904.2	NP_055719.1	Q7L804	RFIP2_HUMAN	RAB11 family interacting protein 2 (class I)	396					protein transport	plasma membrane|recycling endosome membrane	protein homodimerization activity	p.R396G(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8)	19		Colorectal(252;0.235)		all cancers(201;0.0238)		TAGTCCTGGCGATTTTCACTA	0.373000													51	88					0	0	0.000147903	0	0
SYT4	6860	broad.mit.edu	37	18	40854018	40854018	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr18:40854018A>G	ENST00000255224.3	-	2	744	c.376T>C	c.(376-378)Ttt>Ctt	p.F126L	SYT4_ENST00000590752.1_Missense_Mutation_p.F108L|SYT4_ENST00000586678.1_Intron	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	126						cell junction|integral to membrane|synaptic vesicle membrane	transporter activity	p.F126L(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						CCTTCTAAAAAGAGCTTCGGG	0.443000													4	80					0	0	1.23904e-05	0	0
PIK3R4	30849	broad.mit.edu	37	3	130463450	130463450	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr3:130463450C>A	ENST00000356763.3	-	2	1170	c.613G>T	c.(613-615)Ggt>Tgt	p.G205C		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	205	Protein kinase.				fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	p.G205C(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						AACATCCCACCATCAACAAAA	0.423000													20	39					2.54575e-18	6.99406e-17	0.000175454	1	0
GPR162	27239	broad.mit.edu	37	12	6936107	6936107	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr12:6936107G>C	ENST00000311268.3	+	5	2292	c.1505G>C	c.(1504-1506)cGg>cCg	p.R502P	GPR162_ENST00000428545.2_Missense_Mutation_p.R218P|GPR162_ENST00000382315.3_Missense_Mutation_p.R198P	NM_019858.1	NP_062832.1	Q16538	GP162_HUMAN	G protein-coupled receptor 162	502						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R502P(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						GGCTTCTTCCGGGAGGAGATC	0.657000													4	160					0	0	3.59834e-05	0	0
TENM1	10178	broad.mit.edu	37	X	123838919	123838919	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chrX:123838919G>C	ENST00000422452.2	-	5	1022	c.959C>G	c.(958-960)gCa>gGa	p.A320G	TENM1_ENST00000371130.3_Missense_Mutation_p.A320G	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1									p.A322G(1)									GGCGCTCAATGCTGTGCACTT	0.483000													99	21					0	0	0.000147903	0	0
OR5D16	390144	broad.mit.edu	37	11	55606864	55606864	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr11:55606864C>A	ENST00000378396.1	+	1	637	c.637C>A	c.(637-639)Cta>Ata	p.L213I		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	213					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L213I(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				GATAAGCACACTACTCATCAT	0.458000													42	58					5.2432e-18	1.43205e-16	0.000147903	1	0
OR5I1	10798	broad.mit.edu	37	11	55703186	55703186	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr11:55703186G>C	ENST00000301532.3	-	1	690	c.691C>G	c.(691-693)Cgc>Ggc	p.R231G		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	231					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R231G(1)|p.R231C(1)|p.R231S(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						CTGAAAGAGCGGATCTTTAAG	0.453000													3	19					0	0	6.4e-05	0	0
IQCA1	79781	broad.mit.edu	37	2	237300647	237300647	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr2:237300647G>T	ENST00000409907.3	-	11	1659	c.1385C>A	c.(1384-1386)cCa>cAa	p.P462Q	IQCA1_ENST00000309507.5_Missense_Mutation_p.P458Q|AC019068.2_ENST00000413353.1_RNA|IQCA1_ENST00000431676.2_Missense_Mutation_p.P421Q			Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	462	Lys-rich.						ATP binding	p.P462Q(1)|p.P469Q(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						TGCTTTCACTGGGCGCTCCCT	0.478000													11	266					9.31168e-06	0.000225285	0.000151284	1	0
HRH4	59340	broad.mit.edu	37	18	22048811	22048811	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr18:22048811G>T	ENST00000256906.4	+	2	353	c.253G>T	c.(253-255)Gaa>Taa	p.E85*	HRH4_ENST00000426880.2_Intron	NM_001160166.1|NM_021624.3	NP_001153638.1|NP_067637.2	Q9H3N8	HRH4_HUMAN	histamine receptor H4	85						integral to membrane|plasma membrane	histamine receptor activity	p.E85*(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)				Clozapine(DB00363)	TTTTGGAAAGGAAATCTGTGT	0.408000													29	75					1.13719e-10	2.90722e-09	0.000227799	1	0
TRIM36	55521	broad.mit.edu	37	5	114499299	114499299	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr5:114499299C>G	ENST00000513154.1	-	2	504	c.178G>C	c.(178-180)Gga>Cga	p.G60R	TRIM36_ENST00000515104.1_5'UTR|TRIM36_ENST00000514154.1_Intron|TRIM36_ENST00000282369.3_Missense_Mutation_p.G72R			Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	72						acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding	p.G72R(1)		breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		TTGTCTGATCCCACATCGTTG	0.443000													4	56					0	0	0.00024832	0	0
TAF1L	138474	broad.mit.edu	37	9	32634374	32634374	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr9:32634374C>T	ENST00000242310.4	-	1	1293	c.1204G>A	c.(1204-1206)Gag>Aag	p.E402K	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	402					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	p.E402K(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CTAAATTCCTCCATCATTCTA	0.438000													87	127					0	0	0.000147903	0	0
EPHB1	2047	broad.mit.edu	37	3	134885789	134885789	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr3:134885789G>C	ENST00000398015.3	+	9	2070	c.1700G>C	c.(1699-1701)cGg>cCg	p.R567P	EPHB1_ENST00000493838.1_Missense_Mutation_p.R128P	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	567						integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	p.R567P(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						CACAGGAAACGGGCTTATAGC	0.567000													4	135					0	0	3.59834e-05	0	0
OR7C1	26664	broad.mit.edu	37	19	14910187	14910187	+	Silent	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr19:14910187C>A	ENST00000248073.2	-	1	836	c.762G>T	c.(760-762)acG>acT	p.T254T	OR7A5_ENST00000601611.1_Intron	NM_198944.1	NP_945182.1	O76099	OR7C1_HUMAN	olfactory receptor, family 7, subfamily C, member 1	254					sensory perception of smell|spermatogenesis	integral to membrane|plasma membrane	olfactory receptor activity	p.T254T(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(2)|ovary(2)|prostate(1)	18						CCCCAAAGCCCGTGCCATAGA	0.517000													30	7					8.88839e-20	2.46618e-18	0.000339439	1	0
PENK	5179	broad.mit.edu	37	8	57353976	57353976	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr8:57353976G>C	ENST00000314922.3	-	2	735	c.659C>G	c.(658-660)cCa>cGa	p.P220R	PENK_ENST00000523274.1_5'UTR|PENK_ENST00000451791.2_Missense_Mutation_p.P220R	NM_006211.3	NP_006202.1	P01210	PENK_HUMAN	proenkephalin	220					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity	p.P220R(1)		central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			CCACCACTCTGGGCGACCTAC	0.537000													4	137					0	0	3.59834e-05	0	0
LRFN1	57622	broad.mit.edu	37	19	39805525	39805525	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr19:39805525C>G	ENST00000248668.4	-	1	451	c.452G>C	c.(451-453)cGg>cCg	p.R151P	CTC-246B18.8_ENST00000601911.1_RNA	NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	151						cell junction|integral to membrane|postsynaptic density|postsynaptic membrane				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			CGACTCCACCCGGCGGATCTG	0.682000													3	7					0	0	1.23904e-05	0	0
CNR1	1268	broad.mit.edu	37	6	88854765	88854765	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr6:88854765T>A	ENST00000537554.1	-	2	3791	c.229A>T	c.(229-231)Aac>Tac	p.N77Y	CNR1_ENST00000369501.2_Missense_Mutation_p.N77Y|CNR1_ENST00000428600.2_Missense_Mutation_p.N77Y|CNR1_ENST00000535130.1_Missense_Mutation_p.N77Y|CNR1_ENST00000362094.5_Intron|CNR1_ENST00000369499.2_Missense_Mutation_p.N77Y|CNR1_ENST00000468898.1_Missense_Mutation_p.N44Y|CNR1_ENST00000549890.1_Missense_Mutation_p.N77Y|CNR1_ENST00000549716.1_Intron	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	77					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding	p.N77Y(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	TCTGTAATGTTCACCTGGTCT	0.473000													15	24					0	0	0.000219431	0	0
SRCAP	10847	broad.mit.edu	37	16	30732600	30732600	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr16:30732600G>T	ENST00000262518.4	+	21	3729	c.3344G>T	c.(3343-3345)cGc>cTc	p.R1115L	SRCAP_ENST00000395059.2_Missense_Mutation_p.R1115L|SRCAP_ENST00000344771.4_Intron	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1115	Pro-rich.				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	p.R1115L(1)		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)			GCCCCAGTTCGCCTGAGCCCA	0.642000													139	102					1.9326e-39	5.76235e-38	0.000147903	1	0
TLR4	7099	broad.mit.edu	37	9	120475790	120475790	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr9:120475790G>C	ENST00000355622.6	+	3	1485	c.1384G>C	c.(1384-1386)Gct>Cct	p.A462P	TLR4_ENST00000394487.4_Missense_Mutation_p.A422P|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	462					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	p.A462P(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						CACCAGAGTTGCTTTCAATGG	0.398000													60	80					0	0	0.000147903	0	0
SLC39A2	29986	broad.mit.edu	37	14	21467712	21467712	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr14:21467712C>A	ENST00000298681.4	+	1	264	c.107C>A	c.(106-108)gCa>gAa	p.A36E	SLC39A2_ENST00000554422.1_Missense_Mutation_p.A36E	NM_014579.3	NP_055394.2	Q9NP94	S39A2_HUMAN	solute carrier family 39 (zinc transporter), member 2	36						cytoplasmic membrane-bounded vesicle|integral to plasma membrane	zinc ion transmembrane transporter activity	p.A36E(1)		breast(2)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	14	all_cancers(95;0.00267)		OV - Ovarian serous cystadenocarcinoma(11;1.34e-10)|Epithelial(56;1.57e-08)|all cancers(55;7.45e-08)	GBM - Glioblastoma multiforme(265;0.0187)		CAGATTGATGCAGCCAGAGGT	0.507000													28	17					4.43304e-23	1.25744e-21	0.000147802	1	0
MUC16	94025	broad.mit.edu	37	19	9084758	9084758	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr19:9084758C>A	ENST00000397910.4	-	1	7260	c.7057G>T	c.(7057-7059)Gat>Tat	p.D2353Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2353	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.D2353Y(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCAAGGATATCTGAGGTTTTT	0.453000													21	11					1.64113e-05	0.000392973	0.000175454	1	0
NOX4	50507	broad.mit.edu	37	11	89070632	89070632	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr11:89070632G>C	ENST00000535633.1	-	16	1736	c.1426C>G	c.(1426-1428)Caa>Gaa	p.Q476E	NOX4_ENST00000534731.1_Missense_Mutation_p.Q460E|NOX4_ENST00000343727.5_Missense_Mutation_p.Q476E|NOX4_ENST00000263317.4_Missense_Mutation_p.Q500E|NOX4_ENST00000527956.1_Missense_Mutation_p.Q476E|NOX4_ENST00000424319.1_Missense_Mutation_p.Q476E|NOX4_ENST00000532825.1_Missense_Mutation_p.Q436E|NOX4_ENST00000413594.2_Missense_Mutation_p.Q521E|NOX4_ENST00000528341.1_Missense_Mutation_p.Q475E|NOX4_ENST00000531342.1_Missense_Mutation_p.Q153E|NOX4_ENST00000542487.1_Missense_Mutation_p.Q476E|NOX4_ENST00000375979.3_Missense_Mutation_p.Q193E|NOX4_ENST00000527626.1_Missense_Mutation_p.Q313E|NOX4_ENST00000525196.1_Missense_Mutation_p.Q264E	NM_001143836.1|NM_016931.3	NP_001137308.1|NP_058627.1	Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	500	Mediates interaction with TLR4.				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity	p.Q500E(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				CCATCTGTTTGACTGAGGTAC	0.393000													21	37					0	0	0.000184323	0	0
ABCB4	5244	broad.mit.edu	37	7	87082321	87082321	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr7:87082321G>A	ENST00000265723.4	-	6	586	c.475C>T	c.(475-477)Cga>Tga	p.R159*	ABCB4_ENST00000359206.3_Nonsense_Mutation_p.R159*|ABCB4_ENST00000545634.1_Nonsense_Mutation_p.R159*|ABCB4_ENST00000453593.1_Nonsense_Mutation_p.R159*|ABCB4_ENST00000358400.3_Nonsense_Mutation_p.R159*	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	159	ABC transmembrane type-1 1.				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	p.R159*(1)		breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					ATTTCCTGTCGTAGAATAGCA	0.393000													40	70					0	0	0.000319135	0	0
NUP43	348995	broad.mit.edu	37	6	150067629	150067629	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr6:150067629C>G	ENST00000367403.3	-	1	185	c.186G>C	c.(184-186)atG>atC	p.M62I	NUP43_ENST00000367404.4_Start_Codon_SNP_p.M1I|NUP43_ENST00000463048.3_Intron|NUP43_ENST00000340413.2_Start_Codon_SNP_p.M1I|NUP43_ENST00000460354.2_Start_Codon_SNP_p.M1I			Q8NFH3	NUP43_HUMAN	nucleoporin 43kDa	1					carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	protein binding	p.M1I(1)		breast(1)|large_intestine(2)|lung(8)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;4.71e-13)|GBM - Glioblastoma multiforme(68;0.101)		AAATTTCCTCCATGCCGAAAG	0.567000											OREG0017720	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	152					0	0	1.23904e-05	0	0
LRRC28	123355	broad.mit.edu	37	15	99926275	99926275	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr15:99926275C>G	ENST00000301981.3	+	10	1312	c.1072C>G	c.(1072-1074)Cag>Gag	p.Q358E	LRRC28_ENST00000331450.5_Missense_Mutation_p.Q84E|LRRC28_ENST00000422500.2_Missense_Mutation_p.Q289E|LRRC28_ENST00000447360.2_Silent_p.P304P|LRRC28_ENST00000558879.1_3'UTR	NM_144598.2	NP_653199.2	Q86X40	LRC28_HUMAN	leucine rich repeat containing 28	358								p.Q358E(1)		endometrium(2)|large_intestine(3)|lung(6)|prostate(1)	12	Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00106)			CTGCTCCACCCAGTGTCTGCA	0.493000													7	568					0	0	0.000157383	0	0
NCKAP5L	57701	broad.mit.edu	37	12	50189231	50189231	+	Silent	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr12:50189231C>G	ENST00000335999.6	-	8	2613	c.2412G>C	c.(2410-2412)ctG>ctC	p.L804L		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	800	Pro-rich.							p.L804L(1)|p.L395L(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						TGGGCTTGCCCAGGCTTGGGG	0.652000													4	54					0	0	1.23904e-05	0	0
OR4K2	390431	broad.mit.edu	37	14	20344567	20344567	+	Silent	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr14:20344567C>A	ENST00000298642.2	+	1	177	c.141C>A	c.(139-141)atC>atA	p.I47I		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	47					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I47I(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCATAGTCATCACAGTTATAG	0.423000													107	183					5.4258e-56	1.63876e-54	0.000147903	1	0
TRIM29	23650	broad.mit.edu	37	11	120008375	120008375	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr11:120008375G>T	ENST00000341846.5	-	1	786	c.365C>A	c.(364-366)gCc>gAc	p.A122D		NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	122					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A122D(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		GCCCTTTTCGGCAAAGGTAAC	0.617000													64	139					2.66076e-39	7.9166e-38	0.000147903	1	0
AKAP12	9590	broad.mit.edu	37	6	151671920	151671920	+	Silent	SNP	C	C	G	rs140093591	byFrequency	TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr6:151671920C>G	ENST00000402676.2	+	4	2634	c.2394C>G	c.(2392-2394)ccC>ccG	p.P798P	AKAP12_ENST00000359755.5_Silent_p.P693P|AKAP12_ENST00000253332.1_Silent_p.P798P|AKAP12_ENST00000354675.6_Silent_p.P700P	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	798	AKAP 3.				G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding	p.P798P(1)		breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		ACACTGAACCCGGTAAAGAAG	0.463000													4	89					0	0	0.00024832	0	0
TGFB1I1	7041	broad.mit.edu	37	16	31485199	31485199	+	Missense_Mutation	SNP	G	G	T	rs149961993	byFrequency	TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr16:31485199G>T	ENST00000394863.3	+	4	356	c.226G>T	c.(226-228)Gcc>Tcc	p.A76S	TGFB1I1_ENST00000394858.2_Missense_Mutation_p.A59S|TGFB1I1_ENST00000567607.1_Missense_Mutation_p.A59S|TGFB1I1_ENST00000361773.3_Missense_Mutation_p.A59S	NM_001042454.2	NP_001035919.1	O43294	TGFI1_HUMAN	transforming growth factor beta 1 induced transcript 1	76	Interaction with PTK2B.|Transcription activation (By similarity).				androgen receptor signaling pathway|cell adhesion|negative regulation of cell proliferation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|transcription from RNA polymerase II promoter|ubiquitin-dependent SMAD protein catabolic process|Wnt receptor signaling pathway	cytoplasm|cytoskeleton|focal adhesion|nuclear matrix	androgen receptor binding|I-SMAD binding|Roundabout binding|transcription coactivator activity|zinc ion binding	p.A76S(1)|p.A59S(1)		lung(8)|upper_aerodigestive_tract(1)	9						AGCCCCGGCGGCCCCTCCATT	0.602000													46	65					1.81118e-26	5.21144e-25	0.000147903	1	0
TDGF1P3	6998	broad.mit.edu	37	X	109764329	109764329	+	RNA	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chrX:109764329G>T	ENST00000602699.1	+	0	790					NR_002718.2																						CGATGCTAACGCCTCTTTTCC	0.393000													53	19					1.95512e-22	5.50109e-21	0.000147903	1	0
CDPF1	150383	broad.mit.edu	37	22	46641089	46641089	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr22:46641089C>G	ENST00000314567.3	-	4	695	c.272G>C	c.(271-273)cGg>cCg	p.R91P	CDPF1_ENST00000475605.1_5'UTR|CDPF1_ENST00000404583.1_Missense_Mutation_p.R86P|CDPF1_ENST00000404744.1_3'UTR	NM_207327.4	NP_997210.3			cysteine-rich, DPF motif domain containing 1									p.R91P(1)									GATGTTCTCCCGGACACAAGG	0.502000													4	38					0	0	1.23904e-05	0	0
TCF20	6942	broad.mit.edu	37	22	42575632	42575632	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr22:42575632G>C	ENST00000359486.3	-	2	5868	c.5732C>G	c.(5731-5733)cCg>cGg	p.P1911R	TCF20_ENST00000404876.1_Missense_Mutation_p.P212R|TCF20_ENST00000335626.4_Missense_Mutation_p.P1911R	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1911					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	p.P1911R(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						AATGGCACACGGGTAATGGTA	0.502000													4	118					0	0	1.23904e-05	0	0
ITGB1	3688	broad.mit.edu	37	10	33196017	33196017	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr10:33196017C>G	ENST00000423113.1	-	15	2385	c.2386G>C	c.(2386-2388)Gga>Cga	p.G796R	ITGB1_ENST00000396033.2_Intron|ITGB1_ENST00000302278.3_Intron|ITGB1_ENST00000374956.4_Intron	NM_033668.2	NP_391988.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	796					axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)				GCTTTACGTCCGTAGTTTGGA	0.323000													6	331					0	0	0.000157383	0	0
PRKCB	5579	broad.mit.edu	37	16	24196864	24196864	+	Silent	SNP	G	G	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr16:24196864G>A	ENST00000303531.7	+	15	1850	c.1698G>A	c.(1696-1698)aaG>aaA	p.K566K	PRKCB_ENST00000321728.7_Silent_p.K566K	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	566	Protein kinase.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding	p.K566K(2)		central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	CTATGTCCAAGGAAGCTGTGG	0.512000													32	19					0	0	0.000159656	0	0
NEK11	79858	broad.mit.edu	37	3	130828742	130828742	+	Silent	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr3:130828742G>C	ENST00000383366.4	+	5	725	c.432G>C	c.(430-432)ctG>ctC	p.L144L	NEK11_ENST00000510769.1_Silent_p.L144L|NEK11_ENST00000508196.1_Silent_p.L144L|NEK11_ENST00000426022.2_3'UTR|NEK11_ENST00000429253.2_Silent_p.L144L|NEK11_ENST00000511262.1_Silent_p.L144L|NEK11_ENST00000412440.2_5'UTR|NEK11_ENST00000356918.4_Silent_p.L144L|NEK11_ENST00000510688.1_Silent_p.L144L|NEK11_ENST00000507910.1_Silent_p.L144L	NM_024800.4	NP_079076.3	Q8NG66	NEK11_HUMAN	NIMA-related kinase 11	144	Protein kinase.				cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	p.L144L(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						AGCTGCTGCTGGGAGTTGACT	0.363000													5	142					0	0	1.23904e-05	0	0
C11orf1	64776	broad.mit.edu	37	11	111754522	111754522	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr11:111754522C>G	ENST00000260276.3	+	4	708	c.371C>G	c.(370-372)cCa>cGa	p.P124R	C11orf1_ENST00000528125.1_Missense_Mutation_p.P78R|C11orf1_ENST00000529270.1_Missense_Mutation_p.P164R|C11orf1_ENST00000530214.1_Missense_Mutation_p.Q102E	NM_022761.2	NP_073598.1	Q9H5F2	CK001_HUMAN	chromosome 11 open reading frame 1	124						nucleus		p.P124R(1)		kidney(2)|lung(3)	5		all_cancers(61;1.26e-15)|all_epithelial(67;9.52e-10)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|Medulloblastoma(222;0.0228)|all_neural(223;0.0281)		all cancers(92;6.28e-09)|Epithelial(105;4.11e-08)|OV - Ovarian serous cystadenocarcinoma(223;1.52e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)		CACTGGTTCCCAGGACATCAA	0.408000													5	167					0	0	3.59834e-05	0	0
OR5P3	120066	broad.mit.edu	37	11	7847399	7847399	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr11:7847399C>A	ENST00000328375.1	-	1	120	c.121G>T	c.(121-123)Ggt>Tgt	p.G41C	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153445.1	NP_703146.1	Q8WZ94	OR5P3_HUMAN	olfactory receptor, family 5, subfamily P, member 3	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G41C(1)		autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	15				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CTGATATTACCCATTAAGGTG	0.368000													29	63					1.13719e-10	2.90722e-09	0.000227799	1	0
SCLT1	132320	broad.mit.edu	37	4	129886409	129886409	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr4:129886409T>G	ENST00000281142.5	-	11	1345	c.842A>C	c.(841-843)cAg>cCg	p.Q281P	SCLT1_ENST00000434680.1_Intron|SCLT1_ENST00000439369.2_Intron|SCLT1_ENST00000502495.1_5'UTR|SCLT1_ENST00000503215.1_Intron	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1	281						centrosome		p.Q281P(2)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						TATACTAGACTGTAACTGCTG	0.343000													22	81					0	0	9.22233e-05	0	0
ITGA4	3676	broad.mit.edu	37	2	182347321	182347321	+	Silent	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr2:182347321C>G	ENST00000397033.2	+	9	1414	c.984C>G	c.(982-984)ccC>ccG	p.P328P		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	328					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity	p.P328P(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	TGGGAGCACCCATGCAGAGCA	0.498000													5	236					0	0	1.23904e-05	0	0
FCN2	2220	broad.mit.edu	37	9	137772704	137772704	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr9:137772704G>T	ENST00000350339.2	+	1	51	c.37G>T	c.(37-39)Gcc>Tcc	p.A13S	FCN2_ENST00000291744.6_Missense_Mutation_p.A13S	NM_015837.2	NP_056652.1	Q15485	FCN2_HUMAN	ficolin (collagen/fibrinogen domain containing lectin) 2	13					complement activation, lectin pathway|opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding	p.A13S(1)		breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	20		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)		CCTGGGCGCTGCCACCCTGCT	0.612000													16	20					1.50039e-11	3.86399e-10	0.000229342	1	0
PCBP4	57060	broad.mit.edu	37	3	51992957	51992957	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr3:51992957C>G	ENST00000461554.1	-	13	1103	c.772G>C	c.(772-774)Ggg>Cgg	p.G258R	PCBP4_ENST00000322099.7_Missense_Mutation_p.G258R|PCBP4_ENST00000395013.3_Missense_Mutation_p.G98R|PCBP4_ENST00000395014.2_Missense_Mutation_p.G279R|PCBP4_ENST00000471622.1_Missense_Mutation_p.G258R|PCBP4_ENST00000484633.1_Missense_Mutation_p.G215R|PCBP4_ENST00000355852.2_Missense_Mutation_p.G258R|PCBP4_ENST00000428823.2_Missense_Mutation_p.G215R	NM_001174100.1	NP_001167571.1	P57723	PCBP4_HUMAN	poly(rC) binding protein 4	258	KH 3.					cytoplasm|ribonucleoprotein complex	DNA binding|RNA binding	p.G279R(1)|p.G258R(1)		endometrium(2)|large_intestine(2)|lung(2)|prostate(1)|stomach(1)	8				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CCCTGGCGCCCGATCACACAG	0.617000													4	99					0	0	1.23904e-05	0	0
NCOA6	23054	broad.mit.edu	37	20	33330374	33330374	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr20:33330374G>C	ENST00000374796.2	-	12	6256	c.3686C>G	c.(3685-3687)cCt>cGt	p.P1229R	NCOA6_ENST00000359003.2_Missense_Mutation_p.P1229R			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1229	NCOA1-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	p.P1229R(1)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						TGTGCTGGGAGGGCGGTTGTT	0.512000													126	226					0	0	0.000147903	0	0
MC5R	4161	broad.mit.edu	37	18	13826264	13826264	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr18:13826264G>C	ENST00000324750.3	+	1	722	c.500G>C	c.(499-501)tGg>tCg	p.W167S		NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	167					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding	p.W167S(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						GCCGGCATCTGGGCTTTCTGC	0.572000													6	300					0	0	8.12818e-05	0	0
DST	667	broad.mit.edu	37	6	56481617	56481617	+	Silent	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr6:56481617C>G	ENST00000370765.6	-	24	6755	c.6648G>C	c.(6646-6648)gtG>gtC	p.V2216V	DST_ENST00000244364.6_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000361203.3_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	1562					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	p.V2216V(2)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AAGAATATCCCACAGCTGCCT	0.398000													4	82					0	0	1.23904e-05	0	0
DAPK1	1612	broad.mit.edu	37	9	90255752	90255752	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr9:90255752C>G	ENST00000469640.2	+	9	1193	c.818C>G	c.(817-819)cCc>cGc	p.P273R	DAPK1_ENST00000358077.5_Missense_Mutation_p.P273R|DAPK1_ENST00000472284.1_Missense_Mutation_p.P273R|DAPK1_ENST00000491893.1_Missense_Mutation_p.P273R|DAPK1_ENST00000408954.3_Missense_Mutation_p.P273R			P53355	DAPK1_HUMAN	death-associated protein kinase 1	273	Calmodulin-binding.|Protein kinase.				apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity	p.P273R(2)		breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						TTGCAGCATCCCTGGATCAAG	0.408000									Chronic Lymphocytic Leukemia, Familial Clustering of				4	141					0	0	3.59834e-05	0	0
AMOTL1	154810	broad.mit.edu	37	11	94599210	94599210	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr11:94599210C>T	ENST00000433060.2	+	11	2506	c.2365C>T	c.(2365-2367)Cgt>Tgt	p.R789C	AMOTL1_ENST00000317837.9_Intron|AMOTL1_ENST00000317829.8_Missense_Mutation_p.R739C	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	789						cytoplasm|tight junction	identical protein binding	p.R790C(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				CTCCAGCCTACGTCCTGCCCG	0.517000													19	29					0	0	9.7654e-05	0	0
VSIG2	23584	broad.mit.edu	37	11	124618384	124618384	+	Silent	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr11:124618384C>A	ENST00000403470.1	-	6	808	c.753G>T	c.(751-753)ctG>ctT	p.L251L	VSIG2_ENST00000326621.5_Silent_p.L251L			Q96IQ7	VSIG2_HUMAN	V-set and immunoglobulin domain containing 2	251						integral to plasma membrane|membrane fraction		p.L251L(1)		central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5)	19	all_hematologic(175;0.215)	Breast(109;0.00663)|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;0.0215)		ACAGCACGCCCAGGAGCACCC	0.587000													27	41					2.47511e-08	6.19175e-07	0.000227799	1	0
ASXL3	80816	broad.mit.edu	37	18	31325208	31325208	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr18:31325208C>A	ENST00000269197.5	+	12	5396	c.5396C>A	c.(5395-5397)cCg>cAg	p.P1799Q		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1799					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	p.P1799Q(1)		breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GTTGAAATTCCGCCCAGCTCT	0.498000													44	59					4.01765e-15	1.06812e-13	0.000437636	1	0
DOCK4	9732	broad.mit.edu	37	7	111535745	111535745	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr7:111535745C>A	ENST00000428084.1	-	16	1782	c.1510G>T	c.(1510-1512)Ggg>Tgg	p.G504W	DOCK4_ENST00000476846.1_5'UTR|DOCK4_ENST00000437633.1_Missense_Mutation_p.G504W			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	504	DHR-1.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding	p.G504W(1)|p.G492W(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				AAAGAAAACCCAAACAACTTC	0.398000													11	341					0.000219431	0.00507195	0.000219431	1	0
ABCA1	19	broad.mit.edu	37	9	107578466	107578466	+	Silent	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr9:107578466C>G	ENST00000374736.3	-	25	4090	c.3696G>C	c.(3694-3696)ctG>ctC	p.L1232L		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1232					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding	p.L1232L(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TAGAAATGCCCAGGTCTGAGA	0.483000													6	299					0	0	8.12818e-05	0	0
SLC52A2	79581	broad.mit.edu	37	8	145583398	145583398	+	Silent	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr8:145583398G>T	ENST00000532887.1	+	3	829	c.246G>T	c.(244-246)cgG>cgT	p.R82R	SLC52A2_ENST00000526752.1_Intron|SLC52A2_ENST00000402965.1_Silent_p.R82R|SLC52A2_ENST00000530047.1_Silent_p.R82R|SLC52A2_ENST00000329994.2_Silent_p.R82R|SLC52A2_ENST00000527078.1_Silent_p.R82R|SLC52A2_ENST00000540505.1_5'UTR|SLC52A2_ENST00000526891.1_3'UTR			Q9HAB3	RFT3_HUMAN	solute carrier family 52 (riboflavin transporter), member 2	82						integral to plasma membrane	receptor activity|riboflavin transporter activity	p.R82R(1)									TCCCCATCCGGGTGGTGCAGG	0.637000													32	29					2.47316e-13	6.47652e-12	8.91981e-05	1	0
PRCC	5546	broad.mit.edu	37	1	156756632	156756632	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:156756632A>G	ENST00000271526.4	+	3	1021	c.749A>G	c.(748-750)aAg>aGg	p.K250R	PRCC_ENST00000491853.1_3'UTR|PRCC_ENST00000353233.3_Missense_Mutation_p.K250R	NM_005973.4	NP_005964.3	Q92733	PRCC_HUMAN	papillary renal cell carcinoma (translocation-associated)	250					cell cycle|mitotic cell cycle checkpoint	nucleus	protein binding	p.K250R(1)	PRCC/TFE3(25)	breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(5)|upper_aerodigestive_tract(1)	15	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GCTGCTGCCAAGAGTGCTGCC	0.557000			T	TFE3	papillary renal								17	9					0	0	0.000422831	0	0
HIST1H2BM	8342	broad.mit.edu	37	6	27783099	27783099	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr6:27783099G>C	ENST00000359465.4	+	1	278	c.278G>C	c.(277-279)aGg>aCg	p.R93T		NM_003521.2	NP_003512.1	Q99879	H2B1M_HUMAN	histone cluster 1, H2bm	93					nucleosome assembly	nucleosome|nucleus	DNA binding	p.R93T(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	12						ATCACTTCGAGGGAGATCCAG	0.587000													4	82					0	0	1.23904e-05	0	0
TUBA3D	113457	broad.mit.edu	37	2	132240385	132240385	+	Silent	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr2:132240385C>G	ENST00000321253.6	+	5	1424	c.1317C>G	c.(1315-1317)tcC>tcG	p.S439S		NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	439					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	p.S439S(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		GCGTGGATTCCGTGGAAGCTG	0.582000													4	181					0	0	1.23904e-05	0	0
PCMTD1	115294	broad.mit.edu	37	8	52733173	52733173	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr8:52733173C>A	ENST00000360540.5	-	7	1218	c.812G>T	c.(811-813)aGg>aTg	p.R271M	PCMTD1_ENST00000519559.1_5'UTR|PCMTD1_ENST00000544451.1_Missense_Mutation_p.R195M|PCMTD1_ENST00000522514.1_Missense_Mutation_p.R271M	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	271						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity	p.R271M(2)		NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				GGGTGGAGCCCTTTGAGGAAT	0.423000													10	198					1.49906e-05	0.000359568	0.000219431	1	0
OXLD1	339229	broad.mit.edu	37	17	79632502	79632502	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr17:79632502C>G	ENST00000374741.3	-	2	183	c.173G>C	c.(172-174)gGg>gCg	p.G58A	OXLD1_ENST00000573786.1_5'UTR|OXLD1_ENST00000571503.1_3'UTR	NM_001039842.1	NP_001034931.1			oxidoreductase-like domain containing 1									p.G58A(1)									GTGGTCTGTCCCGAATTTTCT	0.647000													3	22					0	0	6.4e-05	0	0
PDPR	55066	broad.mit.edu	37	16	70180115	70180115	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr16:70180115C>A	ENST00000288050.4	+	16	2903	c.1946C>A	c.(1945-1947)cCa>cAa	p.P649Q	PDPR_ENST00000562100.1_3'UTR|PDPR_ENST00000567046.1_Missense_Mutation_p.P7Q|PDPR_ENST00000542659.1_5'UTR|PDPR_ENST00000568530.1_Missense_Mutation_p.P649Q|PDPR_ENST00000398122.3_Missense_Mutation_p.P549Q	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	649					glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		GACCACTTCCCAAGCCTCTTT	0.453000													10	266					3.27435e-08	8.17653e-07	0.000219431	1	0
LAMB2	3913	broad.mit.edu	37	3	49168416	49168416	+	Silent	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr3:49168416G>C	ENST00000418109.1	-	8	1046	c.882C>G	c.(880-882)ccC>ccG	p.P294P	LAMB2_ENST00000305544.4_Silent_p.P294P	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	294	Laminin EGF-like 1.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity	p.P294P(1)		NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CCCCTGGGGCGGGTGCACACT	0.612000													4	54					0	0	1.23904e-05	0	0
ATP13A5	344905	broad.mit.edu	37	3	192994553	192994553	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr3:192994553C>A	ENST00000342358.4	-	29	3499	c.3382G>T	c.(3382-3384)Gct>Tct	p.A1128S	ATP13A5_ENST00000495496.1_5'UTR	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	1128					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	p.A1128S(1)		NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		ACAAAGAAAGCCACACAGAAT	0.353000													14	50					4.14922e-12	1.07649e-10	0.000422831	1	0
NMT2	9397	broad.mit.edu	37	10	15172176	15172176	+	Silent	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr10:15172176C>G	ENST00000378165.4	-	7	935	c.855G>C	c.(853-855)gcG>gcC	p.A285A	NMT2_ENST00000535341.1_Silent_p.A272A|NMT2_ENST00000540259.1_Silent_p.A97A|RPP38_ENST00000451677.1_Intron|NMT2_ENST00000378150.1_Silent_p.A272A	NM_004808.2	NP_004799.1	O60551	NMT2_HUMAN	N-myristoyltransferase 2	285					N-terminal protein myristoylation|protein lipoylation	Golgi apparatus|plasma membrane	glycylpeptide N-tetradecanoyltransferase activity	p.A285A(1)		breast(3)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(3)	21						GAACCACTCCCGCGGTGTACA	0.488000													4	144					0	0	1.23904e-05	0	0
PLB1	151056	broad.mit.edu	37	2	28812874	28812874	+	Silent	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr2:28812874G>C	ENST00000422425.2	+	28	2030	c.1986G>C	c.(1984-1986)ctG>ctC	p.L662L	PLB1_ENST00000327757.5_Silent_p.L673L|PLB1_ENST00000329020.6_Silent_p.L361L	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	673	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity	p.L673L(1)|p.L662L(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					TTGTTTAGCTGGAGCCTGTTG	0.542000													5	246					0	0	3.59834e-05	0	0
RYR2	6262	broad.mit.edu	37	1	237843766	237843766	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:237843766C>A	ENST00000366574.2	+	62	9223	c.8906C>A	c.(8905-8907)cCt>cAt	p.P2969H	RYR2_ENST00000542537.1_Missense_Mutation_p.P2953H|RYR2_ENST00000360064.6_Missense_Mutation_p.P2967H	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2969	Modulator (Potential).				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.P2967H(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GTCGTTCTTCCTTTAATTGAT	0.423000													37	12					1.69901e-12	4.44093e-11	0.000191422	1	0
CLIC4	25932	broad.mit.edu	37	1	25167381	25167381	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:25167381G>T	ENST00000374379.4	+	6	912	c.715G>T	c.(715-717)Gag>Tag	p.E239*		NM_013943.2	NP_039234.1	Q9Y696	CLIC4_HUMAN	chloride intracellular channel 4	239	GST C-terminal.				cellular response to calcium ion|establishment or maintenance of apical/basal cell polarity|keratinocyte differentiation|negative regulation of cell migration|regulation of cytoskeleton organization	actin cytoskeleton|apical part of cell|cell surface|cell-cell junction|centrosome|chloride channel complex|cytoplasmic vesicle membrane|cytosol|microvillus|midbody|mitochondrion|nuclear matrix|perinuclear region of cytoplasm|soluble fraction	voltage-gated chloride channel activity	p.E239*(1)		large_intestine(3)|lung(2)|skin(1)	6		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000778)|all_lung(284;0.00106)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0479)|OV - Ovarian serous cystadenocarcinoma(117;1.06e-24)|Colorectal(126;1.03e-07)|COAD - Colon adenocarcinoma(152;4.93e-06)|STAD - Stomach adenocarcinoma(196;0.000418)|GBM - Glioblastoma multiforme(114;0.000451)|BRCA - Breast invasive adenocarcinoma(304;0.00215)|KIRC - Kidney renal clear cell carcinoma(1967;0.00216)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.18)		CAGTGATAAGGAGGTTGAAAT	0.398000													34	20					3.90053e-15	1.03895e-13	0.000409698	1	0
CFHR4	10877	broad.mit.edu	37	1	196884178	196884178	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:196884178G>C	ENST00000367416.2	+	9	1584	c.1447G>C	c.(1447-1449)Gag>Cag	p.E483Q	CFHR4_ENST00000251424.4_Missense_Mutation_p.E237Q|CFHR2_ENST00000367421.3_Intron|CFHR4_ENST00000367418.1_Missense_Mutation_p.E237Q	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1			complement factor H-related 4									p.E483Q(1)|p.E237Q(1)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						GTCAAGAGTCGAGTACCAATG	0.423000													4	225					0	0	0.00024832	0	0
LRP1B	53353	broad.mit.edu	37	2	141264383	141264383	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr2:141264383C>T	ENST00000389484.3	-	53	9474	c.8503G>A	c.(8503-8505)Gat>Aat	p.D2835N		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2835	LDL-receptor class A 18.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.D2835N(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GGTGACTCATCAGAGCCATCT	0.368000										TSP Lung(27;0.18)			52	96					0	0	0.000147903	0	0
GFRA1	2674	broad.mit.edu	37	10	117849334	117849334	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr10:117849334C>G	ENST00000439649.3	-	8	1467	c.1100G>C	c.(1099-1101)cGg>cCg	p.R367P	GFRA1_ENST00000369236.1_Missense_Mutation_p.R367P|GFRA1_ENST00000544592.1_Missense_Mutation_p.R251P|GFRA1_ENST00000355422.6_Missense_Mutation_p.R372P	NM_001145453.1	NP_001138925.1	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1	372	Poly-Thr.				axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity	p.R367P(1)		endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		GTTCTTAACCCGGAGGGCAGT	0.542000													3	59					0	0	0.00024832	0	0
STAG2	10735	broad.mit.edu	37	X	123217337	123217337	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chrX:123217337G>C	ENST00000371160.1	+	29	3281	c.2991G>C	c.(2989-2991)ttG>ttC	p.L997F	STAG2_ENST00000218089.9_Missense_Mutation_p.L997F|STAG2_ENST00000354548.5_Missense_Mutation_p.L928F|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371145.3_Missense_Mutation_p.L997F|STAG2_ENST00000371157.3_Missense_Mutation_p.L997F|STAG2_ENST00000371144.3_Missense_Mutation_p.L997F			Q8N3U4	STAG2_HUMAN	stromal antigen 2	997					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding	p.L997F(2)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						CTTTAAATTTGGCATTTCTTG	0.323000													49	16					0	0	0.000147903	0	0
DOCK7	85440	broad.mit.edu	37	1	63008322	63008322	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:63008322C>G	ENST00000251157.5	-	25	3035	c.3002G>C	c.(3001-3003)cGg>cCg	p.R1001P	DOCK7_ENST00000340370.5_Missense_Mutation_p.R970P	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1001					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding	p.R970Q(2)|p.R970P(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						AGCTGATTCCCGAACGCTGCC	0.378000													4	94					0	0	1.23904e-05	0	0
FAM175B	23172	broad.mit.edu	37	10	126517402	126517402	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr10:126517402C>T	ENST00000298492.5	+	6	581	c.536C>T	c.(535-537)cCa>cTa	p.P179L		NM_032182.3	NP_115558.3	Q15018	F175B_HUMAN	family with sequence similarity 175, member B	179						BRISC complex	polyubiquitin binding	p.P179L(1)		NS(1)	1						TCTTCAGTGCCAAATACTTCT	0.353000													30	62					0	0	8.91981e-05	0	0
MLXIP	22877	broad.mit.edu	37	12	122614649	122614649	+	Silent	SNP	C	C	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr12:122614649C>T	ENST00000319080.6	+	6	1032	c.900C>T	c.(898-900)ccC>ccT	p.P300P				Q9HAP2	MLXIP_HUMAN	MLX interacting protein	300	Required for cytoplasmic localization.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding	p.P300P(1)		NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		GGCCCAATCCCCGGGAAATAG	0.602000													7	9					0	0	0.000157383	0	0
G6PC	2538	broad.mit.edu	37	17	41052971	41052971	+	Silent	SNP	C	C	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr17:41052971C>T	ENST00000253801.2	+	1	157	c.78C>T	c.(76-78)tcC>tcT	p.S26S	G6PC_ENST00000592383.1_Silent_p.S26S|G6PC_ENST00000585489.1_Silent_p.S26S	NM_000151.3	NP_000142.2	P35575	G6PC_HUMAN	glucose-6-phosphatase, catalytic subunit	26					gluconeogenesis|glucose homeostasis|transmembrane transport	integral to endoplasmic reticulum membrane	glucose-6-phosphatase activity|phosphate binding	p.S26S(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.113)		ACCAAGACTCCCAGGACTGGT	0.502000													43	28					0	0	0.000374591	0	0
CROT	54677	broad.mit.edu	37	7	87022321	87022321	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr7:87022321G>C	ENST00000331536.3	+	17	1841	c.1656G>C	c.(1654-1656)caG>caC	p.Q552H	CROT_ENST00000442291.1_Missense_Mutation_p.Q552H|CROT_ENST00000419147.2_Missense_Mutation_p.Q580H	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase	552					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity	p.Q552H(2)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	TACGAGTCCAGGGAGTGGTAG	0.418000													5	197					0	0	1.23904e-05	0	0
SUPT6H	6830	broad.mit.edu	37	17	27014204	27014204	+	Silent	SNP	C	C	A	rs145262815		TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr17:27014204C>A	ENST00000314616.6	+	22	3082	c.2799C>A	c.(2797-2799)tcC>tcA	p.S933S	SUPT6H_ENST00000347486.4_Silent_p.S933S	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	933					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity	p.S933S(1)		NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					TGTGCAGTTCCGATGAAGACA	0.562000													6	150					0.000157383	0.00364379	0.000157383	1	0
SNX13	23161	broad.mit.edu	37	7	17843055	17843055	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr7:17843055T>A	ENST00000409389.1	-	21	2418	c.2246A>T	c.(2245-2247)cAa>cTa	p.Q749L	SNX13_ENST00000428135.3_Missense_Mutation_p.Q738L|SNX13_ENST00000496855.1_5'UTR			Q9Y5W8	SNX13_HUMAN	sorting nexin 13	749					cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity	early endosome membrane	phosphatidylinositol binding|signal transducer activity	p.Q738L(1)		breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					AAAAAATGATTGCTTTATGTC	0.338000													12	22					0	0	0.000219431	0	0
TANGO6	79613	broad.mit.edu	37	16	68912103	68912103	+	Nonsense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr16:68912103C>G	ENST00000261778.1	+	6	1226	c.1214C>G	c.(1213-1215)tCa>tGa	p.S405*		NM_024562.1	NP_078838.1			transport and golgi organization 6 homolog (Drosophila)									p.S405*(1)									ATAACTTTGTCAAGAGAACGC	0.408000													28	49					0	0	0.000339439	0	0
ZNF276	92822	broad.mit.edu	37	16	89788983	89788983	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr16:89788983G>C	ENST00000289816.5	+	2	337	c.25G>C	c.(25-27)Ggg>Cgg	p.G9R	ZNF276_ENST00000568064.1_Missense_Mutation_p.G9R|ZNF276_ENST00000443381.2_Missense_Mutation_p.G84R|ZNF276_ENST00000446326.2_5'UTR	NM_152287.3	NP_689500.2	Q8N554	ZN276_HUMAN	zinc finger protein 276	84					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G9R(1)|p.G84R(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		CCTCTGCCACGGGAAGTTTTC	0.647000													4	70					0	0	0.00024832	0	0
TRBV10-2	28584	broad.mit.edu	37	7	142206615	142206615	+	RNA	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr7:142206615G>C	ENST00000426318.2	-	0	290																											CATAGCCATCGGGGACTTCTC	0.507000													5	153					0	0	3.59834e-05	0	0
COL5A2	1290	broad.mit.edu	37	2	189945770	189945770	+	Splice_Site	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr2:189945770C>G	ENST00000374866.3	-	13	1127		c.e13-1			NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2						axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	p.?(1)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CACGAGCTCCCTGGGAGGAAA	0.398000													4	120					0	0	0.00024832	0	0
ZEB2	9839	broad.mit.edu	37	2	145156296	145156296	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr2:145156296A>C	ENST00000558170.2	-	8	3642	c.2458T>G	c.(2458-2460)Tta>Gta	p.L820V	ZEB2_ENST00000303660.4_Missense_Mutation_p.L820V|ZEB2_ENST00000539609.3_Missense_Mutation_p.L796V|ZEB2_ENST00000409487.3_Missense_Mutation_p.L820V	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	820						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding	p.L820V(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		TGTTTTGGTAATGACAAGTCT	0.383000													74	99					0	0	0.000147903	0	0
SLC1A3	6507	broad.mit.edu	37	5	36608612	36608612	+	Silent	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr5:36608612C>A	ENST00000265113.4	+	2	563	c.87C>A	c.(85-87)gcC>gcA	p.A29A	SLC1A3_ENST00000381918.3_Silent_p.A29A|SLC1A3_ENST00000506725.1_3'UTR	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	29					D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	p.A29A(1)		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)	CACTTTTGGCCAAGAAGAAAG	0.453000													79	301					2.72187e-29	7.96288e-28	0.000147903	1	0
KIAA2022	340533	broad.mit.edu	37	X	73960673	73960673	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chrX:73960673C>A	ENST00000373468.1	-	3	4370	c.3719G>T	c.(3718-3720)gGc>gTc	p.G1240V	KIAA2022_ENST00000055682.5_Missense_Mutation_p.G1240V			Q5QGS0	K2022_HUMAN	KIAA2022	1240					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	p.G1240F(1)		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						ACGGCCAATGCCAATTTGCAT	0.493000													23	8					2.21704e-12	5.77337e-11	0.000375601	1	0
HTT	3064	broad.mit.edu	37	4	3134425	3134425	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr4:3134425G>C	ENST00000355072.5	+	17	2518	c.2373G>C	c.(2371-2373)atG>atC	p.M791I		NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	791					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding	p.M791I(1)		breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		GAGATTGGATGGGCACCATTA	0.488000													5	143					0	0	1.23904e-05	0	0
PPP1R3D	5509	broad.mit.edu	37	20	58514122	58514122	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr20:58514122C>G	ENST00000370996.3	-	1	1230	c.865G>C	c.(865-867)Ggg>Cgg	p.G289R	FAM217B_ENST00000358293.3_Intron	NM_006242.3	NP_006233.1	O95685	PPR3D_HUMAN	protein phosphatase 1, regulatory subunit 3D	289					glycogen metabolic process		protein binding|protein serine/threonine phosphatase activity	p.G289R(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|urinary_tract(1)	13	all_lung(29;0.00391)		BRCA - Breast invasive adenocarcinoma(7;5.12e-09)			TCGCACTCCCCGCGAGGCATG	0.642000													3	37					0	0	0.00024832	0	0
CEP72	55722	broad.mit.edu	37	5	640629	640629	+	Silent	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr5:640629C>G	ENST00000264935.5	+	9	1539	c.1449C>G	c.(1447-1449)tcC>tcG	p.S483S	CEP72_ENST00000444221.1_3'UTR	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa	483					G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol		p.S483S(1)		autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			AGAGTAAGTCCCTGCAAAGCC	0.597000													5	141					0	0	3.59834e-05	0	0
SLC16A1	6566	broad.mit.edu	37	1	113464670	113464670	+	Silent	SNP	A	A	T	rs148691598	byFrequency	TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:113464670A>T	ENST00000538576.1	-	3	1134	c.303T>A	c.(301-303)atT>atA	p.I101I	SLC16A1_ENST00000369626.3_Silent_p.I101I|SLC16A1_ENST00000433570.4_Silent_p.I101I	NM_001166496.1	NP_001159968.1	P53985	MOT1_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 1	101					blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	integral to membrane|membrane fraction|plasma membrane	mevalonate transmembrane transporter activity|protein binding|secondary active monocarboxylate transmembrane transporter activity|symporter activity	p.I101I(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|urinary_tract(1)	20	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)		Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643)	Pyruvic acid(DB00119)	AAGAAGCTGCAATCAAGCCAC	0.418000													25	30					0	0	0.00047179	0	0
IQCF1	132141	broad.mit.edu	37	3	51937040	51937040	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr3:51937040C>T	ENST00000310914.5	-	2	131	c.69G>A	c.(67-69)atG>atA	p.M23I		NM_152397.2	NP_689610.2	Q8N6M8	IQCF1_HUMAN	IQ motif containing F1	23								p.M23I(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AATGGGTTGGCATCTCCTTCT	0.512000													255	406					0	0	0.000147903	0	0
RNF165	494470	broad.mit.edu	37	18	44030290	44030290	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr18:44030290C>G	ENST00000269439.7	+	5	698	c.647C>G	c.(646-648)cCt>cGt	p.P216R	RNF165_ENST00000543885.1_Missense_Mutation_p.P24R	NM_152470.2	NP_689683.2	Q6ZSG1	RN165_HUMAN	ring finger protein 165	216							zinc ion binding	p.P216R(1)		NS(1)|large_intestine(4)|lung(6)	11				READ - Rectum adenocarcinoma(1;0.0873)		TACCCTTACCCTCAGCTTCAC	0.512000													20	46					0	0	0.000295444	0	0
CCDC25	55246	broad.mit.edu	37	8	27610105	27610105	+	Splice_Site	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr8:27610105C>G	ENST00000356537.4	-	5	262		c.e5-1		CCDC25_ENST00000539095.1_Splice_Site|CCDC25_ENST00000522915.1_Splice_Site|RP11-16P20.3_ENST00000521510.1_RNA	NM_018246.2	NP_060716.2	Q86WR0	CCD25_HUMAN	coiled-coil domain containing 25									p.?(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0223)|KIRC - Kidney renal clear cell carcinoma(542;0.11)|Kidney(114;0.131)|Colorectal(74;0.154)		TATTCTCTCCCTGAAACACAA	0.428000													4	48					0	0	1.23904e-05	0	0
ARID2	196528	broad.mit.edu	37	12	46230610	46230610	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr12:46230610C>A	ENST00000334344.6	+	8	1031	c.859C>A	c.(859-861)Ctt>Att	p.L287I	ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Missense_Mutation_p.L138I	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	287					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.L287I(1)		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)		ACAGCGGGTACTTCAGATTGC	0.413000			"""N, S, F"""		hepatocellular carcinoma								41	73					2.95478e-19	8.16593e-18	0.000374591	1	0
IFT172	26160	broad.mit.edu	37	2	27708286	27708286	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr2:27708286G>T	ENST00000260570.3	-	2	227	c.124C>A	c.(124-126)Ctg>Atg	p.L42M	IFT172_ENST00000416524.2_Missense_Mutation_p.L21M|IFT172_ENST00000359466.6_Missense_Mutation_p.L42M	NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172 homolog (Chlamydomonas)	42					cilium assembly	cilium	binding	p.L42M(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					TCATCATACAGCAAGACCACT	0.458000													46	82					5.85753e-14	1.53969e-12	0.000147903	1	0
FNBP1L	54874	broad.mit.edu	37	1	94014920	94014920	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:94014920G>A	ENST00000260506.8	+	13	1565	c.1414G>A	c.(1414-1416)Gaa>Aaa	p.E472K	FNBP1L_ENST00000370256.4_Missense_Mutation_p.E525K|FNBP1L_ENST00000271234.7_Missense_Mutation_p.E530K|FNBP1L_ENST00000370253.2_Missense_Mutation_p.E472K|FNBP1L_ENST00000604705.1_Missense_Mutation_p.E530K	NM_001024948.2|NM_017737.4	NP_001020119.1|NP_060207.2	Q5T0N5	FBP1L_HUMAN	formin binding protein 1-like	530	Interaction with CDC42.				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	lipid binding	p.E472K(1)|p.E530K(1)		breast(2)|kidney(2)|large_intestine(4)|lung(2)|urinary_tract(1)	11		all_lung(203;0.00206)|Lung NSC(277;0.00902)|Melanoma(281;0.155)		all cancers(265;0.00666)|GBM - Glioblastoma multiforme(16;0.0378)|Epithelial(280;0.111)		GTTTGATGATGAATTTGAGGA	0.393000													113	39					0	0	0.000147903	0	0
SP3	6670	broad.mit.edu	37	2	174820400	174820400	+	Silent	SNP	C	C	A	rs146827142		TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr2:174820400C>A	ENST00000310015.6	-	4	1370	c.840G>T	c.(838-840)tcG>tcT	p.S280S	SP3_ENST00000455789.2_Silent_p.S227S|SP3_ENST00000418194.2_Silent_p.S212S	NM_001172712.1|NM_003111.4	NP_001166183.1|NP_003102.1	Q02447	SP3_HUMAN	Sp3 transcription factor	280					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	protein binding|zinc ion binding	p.S280S(1)	EWSR1/SP3(3)	NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.185)			GAGAACTGCCCGAGAGTCCCA	0.443000													9	164					0.000274275	0.0062264	0.000274275	1	0
USP38	84640	broad.mit.edu	37	4	144135082	144135082	+	Silent	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr4:144135082C>G	ENST00000307017.4	+	9	2459	c.1953C>G	c.(1951-1953)ccC>ccG	p.P651P	USP38_ENST00000510377.1_Silent_p.P651P	NM_032557.5	NP_115946.2	Q8NB14	UBP38_HUMAN	ubiquitin specific peptidase 38	651					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	33	all_hematologic(180;0.158)					CCTCTGTACCCGGTCCTTCAG	0.438000													7	261					0	0	0.000274275	0	0
IL24	11009	broad.mit.edu	37	1	207076354	207076354	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:207076354G>A	ENST00000367093.3	+	6	689	c.415G>A	c.(415-417)Ggg>Agg	p.G139R	IL24_ENST00000294984.2_Missense_Mutation_p.G191R|IL24_ENST00000491169.1_3'UTR|IL24_ENST00000391929.3_Missense_Mutation_p.G192R	NM_001185157.1|NM_001185158.1	NP_001172086.1|NP_001172087.1	Q13007	IL24_HUMAN	interleukin 24	191					apoptosis	extracellular space	cytokine activity	p.G191R(1)		endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12	Breast(84;0.201)					CAAAGCCCTTGGGGAAGTGGA	0.498000													17	267					0	0	0.000132079	0	0
ATG16L2	89849	broad.mit.edu	37	11	72540382	72540382	+	Missense_Mutation	SNP	G	G	C	rs142770133		TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr11:72540382G>C	ENST00000321297.5	+	18	1945	c.1807G>C	c.(1807-1809)Ggg>Cgg	p.G603R	ATG16L2_ENST00000534905.1_Intron	NM_033388.1	NP_203746.1	Q8NAA4	A16L2_HUMAN	autophagy related 16-like 2 (S. cerevisiae)	603					autophagy|protein transport	cytoplasm	protein binding	p.G603R(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	14			BRCA - Breast invasive adenocarcinoma(5;2.73e-06)			GTGCTACTCCGGGAGCCACAT	0.672000													3	36					0	0	6.4e-05	0	0
KLHL1	57626	broad.mit.edu	37	13	70314593	70314593	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr13:70314593G>T	ENST00000377844.4	-	8	2494	c.1735C>A	c.(1735-1737)Caa>Aaa	p.Q579K	KLHL1_ENST00000545028.1_Missense_Mutation_p.Q386K	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	579					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	p.Q579K(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		AATGTCCATTGTTGACTCTGT	0.408000													28	39					1.26454e-06	3.10234e-05	0.000117367	1	0
YME1L1	10730	broad.mit.edu	37	10	27437844	27437844	+	Silent	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr10:27437844G>C	ENST00000326799.3	-	2	307	c.159C>G	c.(157-159)ccC>ccG	p.P53P	YME1L1_ENST00000375972.3_Silent_p.P53P|YME1L1_ENST00000376016.3_Silent_p.P53P|YME1L1_ENST00000477432.1_Silent_p.P53P	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	53					protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity	p.P53P(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						CCTCACTGCTGGGAGCCTCAT	0.433000													6	259					0	0	3.59834e-05	0	0
NAGS	162417	broad.mit.edu	37	17	42082136	42082136	+	Silent	SNP	G	G	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr17:42082136G>A	ENST00000293404.3	+	1	223	c.105G>A	c.(103-105)gcG>gcA	p.A35A		NM_153006.2	NP_694551.1	Q8N159	NAGS_HUMAN	N-acetylglutamate synthase	35					arginine biosynthetic process|urea cycle	mitochondrial matrix	acetyl-CoA:L-glutamate N-acetyltransferase activity	p.A35A(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8		Breast(137;0.00536)|Prostate(33;0.0724)		BRCA - Breast invasive adenocarcinoma(366;0.113)	L-Glutamic Acid(DB00142)	GCTGTggcgcgcggcggcggg	0.786000													6	6					0	0	3.59834e-05	0	0
BEND2	139105	broad.mit.edu	37	X	18194094	18194094	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chrX:18194094G>T	ENST00000380033.4	-	11	1882	c.1750C>A	c.(1750-1752)Cca>Aca	p.P584T	BEND2_ENST00000380030.3_Missense_Mutation_p.P493T	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	584								p.P584T(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						TAACTTACTGGAGTACTCTTG	0.388000													24	7					1.39806e-14	3.69573e-13	0.000227799	1	0
PSG5	5673	broad.mit.edu	37	19	43689024	43689024	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr19:43689024G>C	ENST00000404580.1	-	2	428	c.340C>G	c.(340-342)Cgg>Ggg	p.R114G	PSG5_ENST00000401992.1_5'UTR|PSG5_ENST00000407568.1_Missense_Mutation_p.R114G|PSG5_ENST00000407356.1_Missense_Mutation_p.R114G|PSG5_ENST00000366175.3_Missense_Mutation_p.R114G|PSG5_ENST00000599812.1_Missense_Mutation_p.R114G|PSG5_ENST00000342951.6_Missense_Mutation_p.R114G			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	114	Ig-like V-type.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				GCGTCTTCCCGGGTGACATTC	0.428000													6	260					0	0	3.59834e-05	0	0
APOB	338	broad.mit.edu	37	2	21242677	21242677	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr2:21242677G>T	ENST00000233242.1	-	19	3044	c.2917C>A	c.(2917-2919)Ctg>Atg	p.L973M		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	973					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.L973M(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CAGTAATTCAGGCCAGGAAAG	0.537000													40	64					4.44401e-20	1.23795e-18	0.000509022	1	0
DST	667	broad.mit.edu	37	6	56516036	56516036	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr6:56516036G>T	ENST00000370754.5	-	10	1121	c.1122C>A	c.(1120-1122)gaC>gaA	p.D374E	DST_ENST00000421834.2_Missense_Mutation_p.D196E|DST_ENST00000370769.4_Missense_Mutation_p.D196E|DST_ENST00000370788.2_Missense_Mutation_p.D196E|DST_ENST00000312431.6_Missense_Mutation_p.D196E|DST_ENST00000361203.3_Missense_Mutation_p.D196E			Q03001	DYST_HUMAN	dystonin	196					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	p.D196E(1)|p.D374E(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TATCTATCAGGTCCGGCCTAG	0.343000													9	14					0.000274275	0.0062264	0.000274275	1	0
SELP	6403	broad.mit.edu	37	1	169563945	169563945	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:169563945C>T	ENST00000263686.6	-	13	2309	c.2272G>A	c.(2272-2274)Gtg>Atg	p.V758M	SELP_ENST00000458599.2_Missense_Mutation_p.V574M|SELP_ENST00000367791.2_Missense_Mutation_p.V572M|SELP_ENST00000367794.2_Missense_Mutation_p.V696M|SELP_ENST00000367792.2_Missense_Mutation_p.V574M|SELP_ENST00000367788.2_Missense_Mutation_p.V696M|SELP_ENST00000367786.2_Missense_Mutation_p.V696M|SELP_ENST00000367793.2_Missense_Mutation_p.V696M	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	758	Sushi 9.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding	p.V758M(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	CAGGTTGGCACGGTAGTTGAC	0.433000													8	105					0	0	0.000274275	0	0
FLG	2312	broad.mit.edu	37	1	152282432	152282432	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:152282432C>G	ENST00000368799.1	-	3	4965	c.4930G>C	c.(4930-4932)Ggg>Cgg	p.G1644R	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1644	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.G1644R(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCAGAGTGCCCATGACTGGCT	0.552000									Ichthyosis				8	400					0	0	0.000274275	0	0
OR5F1	338674	broad.mit.edu	37	11	55761692	55761692	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr11:55761692G>A	ENST00000278409.1	-	1	409	c.410C>T	c.(409-411)tCc>tTc	p.S137F		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	137					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S137F(1)		endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					GACGGTCCTGGACATGATCAA	0.512000													33	34					0	0	0.000339439	0	0
FLG	2312	broad.mit.edu	37	1	152286385	152286385	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:152286385C>G	ENST00000368799.1	-	3	1012	c.977G>C	c.(976-978)tGg>tCg	p.W326S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	326	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.W326S(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGACTGCTCCCACGCAGATCC	0.567000									Ichthyosis				5	261					0	0	1.23904e-05	0	0
CTRC	11330	broad.mit.edu	37	1	15770006	15770006	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:15770006C>G	ENST00000375949.4	+	5	475	c.449C>G	c.(448-450)cCc>cGc	p.P150R	CTRC_ENST00000375943.2_3'UTR|CTRC_ENST00000483406.1_3'UTR	NM_007272.2	NP_009203.2	Q99895	CTRC_HUMAN	chymotrypsin C (caldecrin)	150	Peptidase S1.				proteolysis		serine-type endopeptidase activity	p.P150R(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)	13		Breast(348;0.000207)|all_lung(284;0.00021)|Colorectal(325;0.000257)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)|Hepatocellular(190;0.0634)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TCCCTGCTCCCCAAGGACTAC	0.582000													4	86					0	0	0.00024832	0	0
NRXN1	9378	broad.mit.edu	37	2	50149313	50149313	+	Silent	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr2:50149313C>G	ENST00000404971.1	-	24	5752	c.4413G>C	c.(4411-4413)acG>acC	p.T1471T	NRXN1_ENST00000401669.2_Silent_p.T1431T|NRXN1_ENST00000342183.5_Silent_p.T366T|NRXN1_ENST00000406859.3_Silent_p.T1401T|NRXN1_ENST00000402717.3_Silent_p.T1423T|NRXN1_ENST00000405472.3_Silent_p.T1423T|NRXN1_ENST00000406316.2_Silent_p.T1401T|NRXN1_ENST00000401710.1_Silent_p.T419T	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1401					adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	p.T366T(2)|p.T1401T(1)|p.T1472T(1)|p.T1471T(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CGACCATACCCGTGGTGCTGC	0.552000													4	47					0	0	1.23904e-05	0	0
FAM65B	9750	broad.mit.edu	37	6	24843408	24843408	+	Silent	SNP	C	C	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr6:24843408C>T	ENST00000259698.4	-	14	1777	c.1602G>A	c.(1600-1602)gaG>gaA	p.E534E	FAM65B_ENST00000540914.1_Silent_p.E484E|FAM65B_ENST00000378023.4_Silent_p.E484E|FAM65B_ENST00000510784.2_Silent_p.E518E|FAM65B_ENST00000538035.1_Silent_p.E513E	NM_014722.2	NP_055537.2	Q9Y4F9	FA65B_HUMAN	family with sequence similarity 65, member B	534					cell differentiation|muscle organ development	cytoskeleton|filopodium|mitochondrion	binding	p.E484E(1)|p.E534E(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						CAACATCATTCTCAAGGAACA	0.572000													56	78					0	0	0.000147903	0	0
PGLYRP3	114771	broad.mit.edu	37	1	153277474	153277474	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:153277474G>C	ENST00000290722.1	-	3	377	c.325C>G	c.(325-327)Cag>Gag	p.Q109E		NM_052891.1	NP_443123.1	Q96LB9	PGRP3_HUMAN	peptidoglycan recognition protein 3	109					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	p.Q109E(1)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	28	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TTGTAGCCCTGGGTGTGCAAG	0.498000													4	55					0	0	1.23904e-05	0	0
CKAP5	9793	broad.mit.edu	37	11	46775022	46775022	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr11:46775022C>G	ENST00000529230.1	-	37	4941	c.4895G>C	c.(4894-4896)cGg>cCg	p.R1632P	CKAP5_ENST00000312055.5_Missense_Mutation_p.R1572P|CKAP5_ENST00000415402.1_Missense_Mutation_p.R1632P|CKAP5_ENST00000354558.3_Missense_Mutation_p.R1572P			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	1632					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						GGAGGCCTCCCGGGCAAGGCT	0.458000													5	122					0	0	1.23904e-05	0	0
UBE2O	63893	broad.mit.edu	37	17	74392594	74392594	+	Silent	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr17:74392594G>C	ENST00000319380.7	-	14	2488	c.2424C>G	c.(2422-2424)ccC>ccG	p.P808P		NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	808							ATP binding|ubiquitin-protein ligase activity	p.P808P(2)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						GGAAGCTCTTGGGTGGCCCGT	0.632000													5	145					0	0	8.12818e-05	0	0
OR2L3	391192	broad.mit.edu	37	1	248224549	248224549	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:248224549T>A	ENST00000359959.3	+	1	566	c.566T>A	c.(565-567)aTg>aAg	p.M189K	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	189					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M189N(1)		cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			CTGGCCTGCATGGACACCTGG	0.473000													81	70					0	0	0.000147903	0	0
XIRP2	129446	broad.mit.edu	37	2	168100039	168100039	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr2:168100039G>T	ENST00000409195.1	+	9	2226	c.2137G>T	c.(2137-2139)Gtt>Ttt	p.V713F	XIRP2_ENST00000409273.1_Missense_Mutation_p.V491F|XIRP2_ENST00000295237.9_Missense_Mutation_p.V713F|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	538					actin cytoskeleton organization	cell junction	actin binding	p.V713F(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AGTGGATGAGGTTCATTTACT	0.363000													14	28					3.41278e-10	8.64572e-09	5.01169e-05	1	0
NUDT22	84304	broad.mit.edu	37	11	63994191	63994191	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr11:63994191G>C	ENST00000279206.3	+	2	223	c.67G>C	c.(67-69)Gcc>Ccc	p.A23P	NUDT22_ENST00000441250.2_Missense_Mutation_p.A23P	NM_001128612.2|NM_032344.2	NP_001122084.1|NP_115720.1	Q9BRQ3	NUD22_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 22	23							hydrolase activity	p.A23P(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(4)	8						GCAGATACAGGCCGAGCTGAG	0.672000													3	40					0	0	6.4e-05	0	0
DST	667	broad.mit.edu	37	6	56373423	56373423	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr6:56373423C>G	ENST00000370754.5	-	75	19049	c.19050G>C	c.(19048-19050)ttG>ttC	p.L6350F	DST_ENST00000244364.6_Missense_Mutation_p.L3758F|DST_ENST00000340834.4_5'UTR|DST_ENST00000446842.2_Missense_Mutation_p.L5846F|DST_ENST00000421834.2_Missense_Mutation_p.L4084F|DST_ENST00000370769.4_Missense_Mutation_p.L6172F|DST_ENST00000370788.2_Missense_Mutation_p.L3975F|DST_ENST00000312431.6_3'UTR|DST_ENST00000361203.3_Missense_Mutation_p.L6061F			Q03001	DYST_HUMAN	dystonin	6170					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	p.L6172F(1)|p.L3758F(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TGGTAACTATCAATGACATGT	0.428000													70	123					0	0	0.000147903	0	0
FLG	2312	broad.mit.edu	37	1	152284828	152284828	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:152284828G>C	ENST00000368799.1	-	3	2569	c.2534C>G	c.(2533-2535)cCg>cGg	p.P845R	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	845	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTTGACCCCGGGTGTCCACG	0.587000									Ichthyosis				6	402					0	0	3.59834e-05	0	0
SLC38A2	54407	broad.mit.edu	37	12	46758304	46758304	+	Silent	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr12:46758304C>G	ENST00000256689.5	-	10	1185	c.741G>C	c.(739-741)gtG>gtC	p.V247V	SLC38A2_ENST00000551374.1_Silent_p.V85V	NM_018976.4	NP_061849.2	Q96QD8	S38A2_HUMAN	solute carrier family 38, member 2	247					cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity	p.V247V(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	18	Lung SC(27;0.192)|Renal(347;0.236)		OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)		AAGCAGCTTCCACAGGACACG	0.353000													5	365					0	0	1.23904e-05	0	0
CTSD	1509	broad.mit.edu	37	11	1778748	1778748	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr11:1778748G>A	ENST00000427721.1	-	2	121	c.122C>T	c.(121-123)gCg>gTg	p.A41V	CTSD_ENST00000236671.2_Silent_p.G170G														p.G170G(1)									CTTTGACACCGCCCAGGGCAG	0.642000											OREG0003774	type=REGULATORY REGION|Gene=CTSD|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	7	10					0	0	8.12818e-05	0	0
TCAP	8557	broad.mit.edu	37	17	37821714	37821714	+	Silent	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr17:37821714C>G	ENST00000309889.2	+	1	1275	c.102C>G	c.(100-102)ccC>ccG	p.P34P	TCAP_ENST00000578283.1_Silent_p.P34P			O15273	TELT_HUMAN	titin-cap	34					adult heart development|cardiac muscle contraction|cardiac muscle fiber development|cardiac muscle tissue morphogenesis|detection of mechanical stimulus|muscle filament sliding|response to stress|sarcomere organization|skeletal muscle contraction|skeletal muscle myosin thick filament assembly|skeletal muscle thin filament assembly	cytosol|Z disc	structural constituent of muscle|titin binding|titin Z domain binding	p.P34P(1)		kidney(1)|lung(1)	2	all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CCACACGGCCCGAGGAGGGGT	0.617000													3	29					0	0	6.4e-05	0	0
HOPX	84525	broad.mit.edu	37	4	57514950	57514950	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr4:57514950T>A	ENST00000337881.7	-	3	814	c.158A>T	c.(157-159)cAg>cTg	p.Q53L	HOPX_ENST00000503639.3_Missense_Mutation_p.Q53L|HOPX_ENST00000554144.1_3'UTR|HOPX_ENST00000381255.3_Missense_Mutation_p.Q53L|HOPX_ENST00000420433.1_Missense_Mutation_p.Q71L|HOPX_ENST00000381260.3_3'UTR|HOPX_ENST00000553379.2_Missense_Mutation_p.Q53L|HOPX_ENST00000317745.7_Missense_Mutation_p.Q53L|HOPX_ENST00000556614.2_Missense_Mutation_p.Q53L|HOPX_ENST00000556376.2_Missense_Mutation_p.Q53L|HOPX_ENST00000555760.2_Missense_Mutation_p.Q53L|HOPX_ENST00000508121.1_Missense_Mutation_p.Q71L	NM_139212.3	NP_631958.1	Q9BPY8	HOP_HUMAN	HOP homeobox	53					negative regulation of cell differentiation|trophectodermal cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.Q53L(1)		large_intestine(2)|lung(5)|skin(1)	8	Glioma(25;0.08)|all_neural(26;0.101)					TGCCAGGCGCTGCTTAAACCA	0.478000													45	46					0	0	0.000147903	0	0
HOXA3	3200	broad.mit.edu	37	7	27147548	27147548	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr7:27147548G>A	ENST00000396352.4	-	3	1517	c.1318C>T	c.(1318-1320)Ctc>Ttc	p.L440F	HOXA-AS2_ENST00000518088.1_RNA|HOXA3_ENST00000317201.2_Missense_Mutation_p.L440F	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3	440					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.L440F(1)		breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						AGGTGGGTGAGCTTGGGTGCT	0.572000													29	50					0	0	8.91981e-05	0	0
SELP	6403	broad.mit.edu	37	1	169586367	169586367	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:169586367T>C	ENST00000263686.6	-	3	417	c.380A>G	c.(379-381)aAc>aGc	p.N127S	SELP_ENST00000458599.2_Missense_Mutation_p.N127S|SELP_ENST00000367791.2_Missense_Mutation_p.N127S|SELP_ENST00000367794.2_Missense_Mutation_p.N127S|SELP_ENST00000367792.2_Missense_Mutation_p.N127S|SELP_ENST00000367788.2_Missense_Mutation_p.N127S|SELP_ENST00000367786.2_Missense_Mutation_p.N127S|SELP_ENST00000367793.2_Missense_Mutation_p.N127S	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	127	C-type lectin.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding	p.N127S(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	GTCCTCGTTGTTCCTTTTGTT	0.468000													157	68					0	0	0.000147903	0	0
BCORL1	63035	broad.mit.edu	37	X	129184716	129184716	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chrX:129184716G>C	ENST00000540052.1	+	10	4687	c.4643G>C	c.(4642-4644)cGg>cCg	p.R1548P	BCORL1_ENST00000218147.7_Missense_Mutation_p.R1548P|BCORL1_ENST00000303743.5_Missense_Mutation_p.R1622P|BCORL1_ENST00000359304.2_Missense_Mutation_p.R1418P	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1548					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		p.R1548P(1)		breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						CTTCAGGGCCGGGCAGAGGGT	0.502000													4	132					0	0	1.23904e-05	0	0
ARL4A	10124	broad.mit.edu	37	7	12727889	12727889	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr7:12727889G>C	ENST00000396663.1	+	2	492	c.10G>C	c.(10-12)Ggg>Cgg	p.G4R	ARL4A_ENST00000396664.2_Missense_Mutation_p.G4R|ARL4A_ENST00000396662.1_Missense_Mutation_p.G4R|ARL4A_ENST00000404894.1_Missense_Mutation_p.G4R|ARL4A_ENST00000356797.3_Missense_Mutation_p.G4R	NM_001037164.2|NM_001195396.1|NM_005738.4|NM_212460.3	NP_001032241.1|NP_001182325.1|NP_005729.1|NP_997625.1	P40617	ARL4A_HUMAN	ADP-ribosylation factor-like 4A	4					small GTPase mediated signal transduction	cytoplasm|nucleolus|plasma membrane	GTP binding|protein binding	p.G4R(1)		NS(2)|lung(3)|ovary(1)	6				UCEC - Uterine corpus endometrioid carcinoma (126;0.176)		AATGGGGAATGGGCTGTCAGA	0.428000													5	149					0	0	3.59834e-05	0	0
BAGE2	85319	broad.mit.edu	37	21	11039215	11039215	+	RNA	SNP	T	T	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr21:11039215T>G	ENST00000470054.1	-	0	988									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)		TTGGAGGCCTTGATTCTTCTT	0.428000													12	169					0	0	6.40141e-05	0	0
CRP	1401	broad.mit.edu	37	1	159683373	159683373	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:159683373C>G	ENST00000255030.5	-	2	720	c.617G>C	c.(616-618)cGg>cCg	p.R206P	CRP_ENST00000437342.1_Missense_Mutation_p.R28P|CRP_ENST00000368112.1_Missense_Mutation_p.R73P|CRP_ENST00000368111.1_Missense_Mutation_p.R84P|CRP_ENST00000473196.1_5'UTR|CRP_ENST00000368110.1_Missense_Mutation_p.R84P|CRP_ENST00000343919.2_Missense_Mutation_p.R84P	NM_000567.2	NP_000558.2	P02741	CRP_HUMAN	C-reactive protein, pentraxin-related	206	Pentaxin.				acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization		choline binding|Gram-positive bacterial cell surface binding|low-density lipoprotein particle binding|metal ion binding|protein binding	p.R206P(1)		breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1)	22	all_hematologic(112;0.0429)				Atorvastatin(DB01076)|Bezafibrate(DB01393)	CTTCAGTGCCCGCCAGTTCAG	0.522000													4	66					0	0	0.00024832	0	0
SLITRK6	84189	broad.mit.edu	37	13	86368421	86368421	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr13:86368421G>T	ENST00000400286.2	-	2	2821	c.2223C>A	c.(2221-2223)aaC>aaA	p.N741K		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	741						integral to membrane		p.N741K(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		CTGTTGATTGGTTCGTGGTTT	0.373000													174	282					9.06622e-77	2.75613e-75	0.000147903	1	0
IP6K2	51447	broad.mit.edu	37	3	48725827	48725827	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr3:48725827G>A	ENST00000328631.5	-	6	1383	c.1160C>T	c.(1159-1161)aCc>aTc	p.T387I		NM_001005909.2|NM_016291.3	NP_001005909.1|NP_057375.2	Q9UHH9	IP6K2_HUMAN	inositol hexakisphosphate kinase 2	387					negative regulation of cell growth|phosphatidylinositol phosphorylation|positive regulation of apoptosis|type I interferon-mediated signaling pathway	intermediate filament cytoskeleton|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity	p.T387I(2)		biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	15						CCTGCAGGTGGTGTGTGCAAA	0.552000													18	38					0	0	7.07596e-05	0	0
CNTN3	5067	broad.mit.edu	37	3	74413646	74413646	+	Silent	SNP	A	A	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr3:74413646A>C	ENST00000263665.6	-	9	1212	c.1185T>G	c.(1183-1185)gtT>gtG	p.V395V		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	395	Ig-like C2-type 4.				cell adhesion	anchored to membrane|plasma membrane	protein binding	p.V395V(1)		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)		CACTGGAATAAACAAGGCCAT	0.378000													21	43					0	0	0.000375601	0	0
ITGAL	3683	broad.mit.edu	37	16	30507469	30507469	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr16:30507469G>C	ENST00000356798.6	+	14	1735	c.1555G>C	c.(1555-1557)Ggg>Cgg	p.G519R	ITGAL_ENST00000358164.5_Missense_Mutation_p.G436R|ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000568012.1_3'UTR	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	519					blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity	p.G519R(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	CTACCCACTCGGGCGGTTTGG	0.597000													5	236					0	0	1.23904e-05	0	0
KIAA0556	23247	broad.mit.edu	37	16	27751862	27751862	+	Silent	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr16:27751862C>G	ENST00000261588.4	+	15	2263	c.2244C>G	c.(2242-2244)ccC>ccG	p.P748P		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	748								p.P748P(2)		breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						GTGAGCCACCCGGGAAAACCC	0.577000													4	58					0	0	1.23904e-05	0	0
MEGF9	1955	broad.mit.edu	37	9	123367659	123367659	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr9:123367659C>A	ENST00000373930.3	-	6	1729	c.1618G>T	c.(1618-1620)Gag>Tag	p.E540*	MEGF9_ENST00000426959.1_Nonsense_Mutation_p.E577*	NM_001080497.2	NP_001073966.2	Q9H1U4	MEGF9_HUMAN	multiple EGF-like-domains 9	540						integral to membrane	calcium ion binding	p.E577*(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	16						TTTTGGTACTCGCGGTACATA	0.438000													7	175					0.000274275	0.0062264	0.000274275	1	0
TNFRSF11B	4982	broad.mit.edu	37	8	119945315	119945315	+	Silent	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr8:119945315G>C	ENST00000297350.4	-	2	633	c.255C>G	c.(253-255)ccC>ccG	p.P85P		NM_002546.3	NP_002537.3	O00300	TR11B_HUMAN	tumor necrosis factor receptor superfamily, member 11b	85					apoptosis|skeletal system development		cytokine activity|receptor activity	p.P85P(4)		breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			CCTTGCACACGGGGCTGCAGT	0.562000													4	89					0	0	1.23904e-05	0	0
SPTBN4	57731	broad.mit.edu	37	19	41077931	41077931	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr19:41077931G>C	ENST00000352632.3	+	34	7412	c.7326G>C	c.(7324-7326)tgG>tgC	p.W2442C	SPTBN4_ENST00000598249.1_Missense_Mutation_p.W2442C|SPTBN4_ENST00000392025.1_Missense_Mutation_p.W1185C|SPTBN4_ENST00000593816.1_3'UTR			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	2442	PH.				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	p.W2442C(1)		breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCAGGTCGTGGGTGAGCCTGT	0.562000													6	191					0	0	0.000157383	0	0
DOCK2	1794	broad.mit.edu	37	5	169127118	169127118	+	Silent	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr5:169127118G>T	ENST00000256935.8	+	13	1313	c.1233G>T	c.(1231-1233)ctG>ctT	p.L411L		NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	411					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	p.L411L(1)		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)			CCAGGAAGCTGGGATTCCCAG	0.537000													8	139					0.000274275	0.0062264	0.000274275	1	0
SPEF2	79925	broad.mit.edu	37	5	35800155	35800155	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr5:35800155C>G	ENST00000440995.2	+	34	4901	c.4901C>G	c.(4900-4902)cCa>cGa	p.P1634R	SPEF2_ENST00000303129.4_Missense_Mutation_p.P436R|SPEF2_ENST00000356031.3_Missense_Mutation_p.P1639R|CTD-2113L7.1_ENST00000510433.1_RNA			Q9C093	SPEF2_HUMAN	sperm flagellar 2	1639					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	p.P1639R(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GCTTGCCACCCAGACACCGTG	0.463000													8	291					0	0	0.000157383	0	0
DNAH7	56171	broad.mit.edu	37	2	196746569	196746569	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr2:196746569G>T	ENST00000312428.6	-	36	6011	c.5911C>A	c.(5911-5913)Cct>Act	p.P1971T		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1971	AAA 3 (By similarity).		P -> L (in dbSNP:rs2889109).		ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.P1971T(1)		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						AATATTGAAGGCTTTTGATGG	0.373000													60	93					4.13886e-29	1.20831e-27	0.000147903	1	0
PLEKHG1	57480	broad.mit.edu	37	6	151161418	151161418	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr6:151161418C>G	ENST00000367328.1	+	17	3856	c.3544C>G	c.(3544-3546)Cag>Gag	p.Q1182E	PLEKHG1_ENST00000358517.2_Missense_Mutation_p.Q1182E	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	1182					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	p.Q1182E(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		TCACAGGTCCCAGTCATCTTC	0.468000													6	204					0	0	3.59834e-05	0	0
TSC1	7248	broad.mit.edu	37	9	135776981	135776981	+	Missense_Mutation	SNP	G	G	T	rs118203700		TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr9:135776981G>T	ENST00000298552.3	-	19	2718	c.2497C>A	c.(2497-2499)Caa>Aaa	p.Q833K	TSC1_ENST00000440111.2_Missense_Mutation_p.Q833K|TSC1_ENST00000545250.1_Missense_Mutation_p.Q782K	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	833					activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	p.Q833K(1)|p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		CTTACCTTTTGGGAAACCTGA	0.458000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis		OREG0019577	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	244					2.17888e-05	0.000519956	0.000442599	1	0
CCDC11	220136	broad.mit.edu	37	18	47753912	47753912	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr18:47753912G>T	ENST00000398545.4	-	8	1501	c.1384C>A	c.(1384-1386)Caa>Aaa	p.Q462K		NM_145020.3	NP_659457.2	Q96M91	CCD11_HUMAN	coiled-coil domain containing 11	462								p.Q462K(1)		endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		TCTGCTTCTTGGGACTGCTGC	0.468000													13	355					7.07596e-05	0.00166864	7.07596e-05	1	0
CATSPERG	57828	broad.mit.edu	37	19	38853033	38853033	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr19:38853033G>C	ENST00000409235.3	+	19	2290	c.2175G>C	c.(2173-2175)ttG>ttC	p.L725F	AC005625.1_ENST00000590304.1_RNA|CATSPERG_ENST00000215069.4_3'UTR|CATSPERG_ENST00000410018.1_Missense_Mutation_p.L685F	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	725					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		p.L365F(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						ACTTCTTCTTGGCGAGCAATT	0.642000													4	61					0	0	1.23904e-05	0	0
MKI67	4288	broad.mit.edu	37	10	129906815	129906815	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr10:129906815G>C	ENST00000368654.3	-	13	3664	c.3289C>G	c.(3289-3291)Cag>Gag	p.Q1097E	MKI67_ENST00000368653.3_Missense_Mutation_p.Q737E	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1097	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	p.Q1097E(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TCTAGTGACTGGGCCTCTTCC	0.502000													6	244					0	0	8.12818e-05	0	0
SNHG14	104472715	broad.mit.edu	37	15	25442803	25442803	+	RNA	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr15:25442803C>G	ENST00000424208.1	+	0	1636				SNHG14_ENST00000424333.1_RNA|SNORD115-15_ENST00000364809.1_RNA	NR_003305.1																						CGCTGAGGCCCAGCCTAGGTG	0.498000													6	383					0	0	3.59834e-05	0	0
C12orf43	64897	broad.mit.edu	37	12	121442869	121442869	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr12:121442869G>A	ENST00000445832.3	-	5	401	c.299C>T	c.(298-300)cCt>cTt	p.P100L	C12orf43_ENST00000366211.2_Missense_Mutation_p.P88L|C12orf43_ENST00000288757.3_Missense_Mutation_p.P130L|C12orf43_ENST00000537817.1_Missense_Mutation_p.P131L|C12orf43_ENST00000536407.2_Intron|C12orf43_ENST00000539736.1_Intron			Q96C57	CL043_HUMAN	chromosome 12 open reading frame 43	130								p.P130L(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					ACGGCCTCCAGGGACAGAtgt	0.458000													7	14					0	0	0.000157383	0	0
POLQ	10721	broad.mit.edu	37	3	121212468	121212468	+	Silent	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr3:121212468C>A	ENST00000264233.5	-	15	2507	c.2379G>T	c.(2377-2379)ctG>ctT	p.L793L		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	793					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	p.L928L(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		CCAGGTCACACAGCTCCCTCT	0.473000								DNA polymerases (catalytic subunits)					15	20					0.000308642	0.0069839	0.000308642	1	0
BTNL9	153579	broad.mit.edu	37	5	180486691	180486691	+	Silent	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr5:180486691G>C	ENST00000327705.9	+	11	1668	c.1437G>C	c.(1435-1437)tcG>tcC	p.S479S	BTNL9_ENST00000376842.3_Silent_p.S480S	NM_152547.4	NP_689760.2	Q6UXG8	BTNL9_HUMAN	butyrophilin-like 9	479	B30.2/SPRY.					integral to membrane		p.S479S(1)		breast(2)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(10)|ovary(1)	19	all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACACCTTCTCGGGCGCGCTCT	0.672000													3	35					0	0	6.4e-05	0	0
SOS1	6654	broad.mit.edu	37	2	39262581	39262581	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr2:39262581C>A	ENST00000426016.1	-	8	1011	c.925G>T	c.(925-927)Gat>Tat	p.D309Y	SOS1_ENST00000395038.2_Missense_Mutation_p.D309Y|SOS1_ENST00000402219.2_Missense_Mutation_p.D309Y|SOS1_ENST00000428721.2_Missense_Mutation_p.D252Y			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	309	DH.		D -> Y (in NS4).		apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	p.D309Y(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				AGGAAACGATCATGAAAACCA	0.328000									Noonan syndrome				38	70					1.57019e-19	4.34804e-18	0.000319135	1	0
KLHL42	57542	broad.mit.edu	37	12	27933611	27933611	+	Silent	SNP	C	C	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr12:27933611C>T	ENST00000381271.2	+	1	659	c.348C>T	c.(346-348)tcC>tcT	p.S116S	RP11-860B13.1_ENST00000545904.1_RNA	NM_020782.1	NP_065833.1			kelch-like family member 42									p.S116S(1)									AGGTCACGTCCCTGCTGCAGC	0.677000													19	55					0	0	0.000295444	0	0
KMT2D	8085	broad.mit.edu	37	12	49445233	49445233	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr12:49445233G>A	ENST00000301067.7	-	10	2232	c.2233C>T	c.(2233-2235)Ccc>Tcc	p.P745S		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D									p.P745S(1)									TCAGGCCGGGGTGACAGGTGC	0.697000													12	29					0	0	0.000219431	0	0
EPG5	57724	broad.mit.edu	37	18	43459085	43459085	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr18:43459085C>A	ENST00000282041.5	-	33	5796	c.5762G>T	c.(5761-5763)aGt>aTt	p.S1921I	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1921					autophagy			p.S1921I(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						CATATAAGGACTCCATTTTGA	0.413000													50	98					4.78724e-31	1.4064e-29	0.000147903	1	0
KPNA6	23633	broad.mit.edu	37	1	32636463	32636463	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:32636463C>T	ENST00000373625.3	+	14	1672	c.1579C>T	c.(1579-1581)Cct>Tct	p.P527S	KPNA6_ENST00000545542.1_Missense_Mutation_p.P532S|RP4-622L5.2_ENST00000515055.1_RNA|KPNA6_ENST00000537234.1_Missense_Mutation_p.P524S	NM_012316.4	NP_036448.1	O60684	IMA7_HUMAN	karyopherin alpha 6 (importin alpha 7)	527					NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding	p.P527S(1)		large_intestine(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				CTTCCAGCAGCCTGAGGCCCC	0.582000													34	39					0	0	0.000109025	0	0
GUF1	60558	broad.mit.edu	37	4	44693769	44693769	+	Silent	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr4:44693769G>T	ENST00000281543.5	+	13	1760	c.1566G>T	c.(1564-1566)gtG>gtT	p.V522V	GUF1_ENST00000506793.1_3'UTR	NM_021927.2	NP_068746.2	Q8N442	GUF1_HUMAN	GUF1 GTPase homolog (S. cerevisiae)	522					translation	mitochondrial inner membrane	GTP binding|GTPase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						ATGAAATTGTGGTAGATTTTT	0.313000													10	291					0.000442599	0.00988708	0.000442599	1	0
STAB1	23166	broad.mit.edu	37	3	52537484	52537484	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr3:52537484G>C	ENST00000321725.6	+	8	895	c.819G>C	c.(817-819)aaG>aaC	p.K273N		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	273					cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	p.K273N(1)		breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GTCTGCCCAAGGACCCATGCA	0.622000													3	40					0	0	6.4e-05	0	0
FLT3	2322	broad.mit.edu	37	13	28623785	28623785	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr13:28623785T>G	ENST00000380982.4	-	7	950	c.869A>C	c.(868-870)aAa>aCa	p.K290T	FLT3_ENST00000241453.7_Missense_Mutation_p.K290T|FLT3_ENST00000537084.1_Missense_Mutation_p.K290T			P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	290	Ig-like C2-type.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	p.K290T(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	CTCGAGTGCTTTGTTTTCTAA	0.373000			"""Mis, O"""		"""AML, ALL"""								49	92					0	0	0.000147903	0	0
MYO18B	84700	broad.mit.edu	37	22	26164827	26164827	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr22:26164827G>T	ENST00000335473.7	+	4	1194	c.944G>T	c.(943-945)gGg>gTg	p.G315V	MYO18B_ENST00000536101.1_Missense_Mutation_p.G315V|MYO18B_ENST00000407587.2_Missense_Mutation_p.G315V	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	315						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	p.G315V(1)		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						CAAATCCCTGGGAGAAAGTGG	0.532000													4	4					1.23904e-05	0.000298223	1.23904e-05	1	0
RBM19	9904	broad.mit.edu	37	12	114395815	114395815	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr12:114395815C>A	ENST00000545145.2	-	6	690	c.612G>T	c.(610-612)gaG>gaT	p.E204D	RBM19_ENST00000392561.3_Missense_Mutation_p.E204D|RBM19_ENST00000261741.5_Missense_Mutation_p.E204D	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	204					multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding	p.E204D(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					TGTCCGACAGCTCCTTCTGCA	0.527000													43	71					7.05121e-23	1.992e-21	0.000509022	1	0
LOC150776	150776	broad.mit.edu	37	2	132277823	132277823	+	RNA	SNP	A	A	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr2:132277823A>T	ENST00000438378.2	+	0	2462					NR_026922.1																						CCCCAGGCTCAGCCTGCGCTT	0.687000													7	6					0	0	0.000274275	0	0
LRP1B	53353	broad.mit.edu	37	2	141598583	141598583	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr2:141598583G>T	ENST00000389484.3	-	30	5989	c.5018C>A	c.(5017-5019)aCg>aAg	p.T1673K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1673					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.T1673K(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATTAATTTGCGTTTCATCAAA	0.418000										TSP Lung(27;0.18)			36	56					2.20474e-14	5.81717e-13	0.000109025	1	0
COMMD1	150684	broad.mit.edu	37	2	62132853	62132853	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr2:62132853G>C	ENST00000311832.5	+	1	72	c.40G>C	c.(40-42)Ggg>Cgg	p.G14R	COMMD1_ENST00000472729.1_Intron|COMMD1_ENST00000538736.1_Missense_Mutation_p.G14R	NM_152516.2	NP_689729.1	Q8N668	COMD1_HUMAN	copper metabolism (Murr1) domain containing 1	14					copper ion homeostasis|negative regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|regulation of proteasomal ubiquitin-dependent protein catabolic process	cell junction|Cul2-RING ubiquitin ligase complex|cytoplasm|nucleolus	copper ion binding|protein homodimerization activity	p.G14R(1)		large_intestine(1)|liver(2)|lung(5)|ovary(1)	9	Lung NSC(7;0.035)|all_lung(7;0.0691)		LUSC - Lung squamous cell carcinoma(7;4.73e-07)|Epithelial(17;0.0216)|all cancers(80;0.0934)			ACCCCTGAGCGGGCTGCTGAA	0.682000													3	14					0	0	6.4e-05	0	0
KCNS3	3790	broad.mit.edu	37	2	18112979	18112979	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr2:18112979G>C	ENST00000403915.1	+	3	1155	c.704G>C	c.(703-705)gGg>gCg	p.G235A	KCNS3_ENST00000465292.1_Intron|KCNS3_ENST00000304101.4_Missense_Mutation_p.G235A			Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	235					energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity	p.G235A(1)		endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TGGTTCACCGGGGAGCTTGCC	0.517000													5	140					0	0	1.23904e-05	0	0
KIF14	9928	broad.mit.edu	37	1	200534577	200534577	+	Silent	SNP	A	A	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:200534577A>G	ENST00000367350.4	-	24	4320	c.3882T>C	c.(3880-3882)gaT>gaC	p.D1294D		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	1294	Required for CIT-binding.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding	p.D1294D(1)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						GCTTACAGTTATCTTGACTTT	0.338000													61	21					0	0	0.000147903	0	0
RYR2	6262	broad.mit.edu	37	1	237886477	237886477	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:237886477C>A	ENST00000366574.2	+	74	10921	c.10604C>A	c.(10603-10605)cCa>cAa	p.P3535Q	RYR2_ENST00000542537.1_Missense_Mutation_p.P3519Q|RYR2_ENST00000360064.6_Missense_Mutation_p.P3533Q	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3535					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.P3533Q(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AAAGACTTACCAAACAGGACT	0.398000													9	272					0.000442599	0.00988708	0.000442599	1	0
ALG8	79053	broad.mit.edu	37	11	77832145	77832145	+	Silent	SNP	T	T	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr11:77832145T>C	ENST00000376156.3	-	4	447	c.444A>G	c.(442-444)ttA>ttG	p.L148L	ALG8_ENST00000299626.5_Silent_p.L148L|ALG8_ENST00000532552.2_Intron	NM_001007027.2	NP_001007028.1	Q9BVK2	ALG8_HUMAN	ALG8, alpha-1,3-glucosyltransferase	148					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity|dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity	p.L148L(1)		NS(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	30	all_cancers(14;3.62e-19)|all_epithelial(13;1.27e-21)|Breast(9;8.51e-17)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;9.66e-25)			TCCACAGAAGTAATACCGACA	0.323000													44	83					0	0	0.000147903	0	0
SLC1A2	6506	broad.mit.edu	37	11	35313850	35313850	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr11:35313850G>C	ENST00000278379.3	-	7	1357	c.1075C>G	c.(1075-1077)Ctg>Gtg	p.L359V	SLC1A2_ENST00000606205.1_Missense_Mutation_p.L359V|SLC1A2_ENST00000395750.1_Missense_Mutation_p.L350V|SLC1A2_ENST00000395753.1_Missense_Mutation_p.L350V	NM_004171.3	NP_004162.2	P43004	EAA2_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 2	359					D-aspartate import|L-glutamate import|synaptic transmission	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	p.L359V(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)		L-Glutamic Acid(DB00142)	GCGGTGCCCAGGGCAGTGATC	0.468000													6	307					0	0	8.12818e-05	0	0
ELTD1	64123	broad.mit.edu	37	1	79404935	79404935	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:79404935T>C	ENST00000370742.3	-	4	397	c.334A>G	c.(334-336)Aat>Gat	p.N112D		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	112					neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.N112D(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		CAGTTTGCATTCACATTTTCT	0.249000													6	64					0	0	0.000157383	0	0
MCMBP	79892	broad.mit.edu	37	10	121600410	121600410	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr10:121600410C>G	ENST00000360003.3	-	11	1362	c.1193G>C	c.(1192-1194)cGg>cCg	p.R398P	MCMBP_ENST00000369077.3_Missense_Mutation_p.R396P|MCMBP_ENST00000466047.1_5'UTR	NM_001256378.1|NM_001256379.1|NM_024834.3	NP_001243307.1|NP_001243308.1|NP_079110.1	Q9BTE3	MCMBP_HUMAN	minichromosome maintenance complex binding protein	398					cell division|DNA-dependent DNA replication|mitosis|S phase of mitotic cell cycle|sister chromatid cohesion	nucleus	chromatin binding	p.R398P(1)		breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2)	21						GGTACTATTCCGTGGGCAACC	0.328000													4	118					0	0	1.23904e-05	0	0
AGPAT2	10555	broad.mit.edu	37	9	139571543	139571543	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr9:139571543C>G	ENST00000371696.2	-	3	427	c.362G>C	c.(361-363)cGg>cCg	p.R121P	AGPAT2_ENST00000538402.1_Missense_Mutation_p.R121P|AGPAT2_ENST00000371694.3_Missense_Mutation_p.R121P	NM_006412.3	NP_006403.2	O15120	PLCB_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 2	121					phosphatidic acid biosynthetic process|positive regulation of cytokine production|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity	p.R121P(1)		endometrium(1)|large_intestine(1)|lung(2)|prostate(2)	6	all_cancers(76;0.0893)|all_epithelial(76;0.231)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)		GAGCAGCTCCCGCTTGGCGAT	0.632000													4	69					0	0	1.23904e-05	0	0
HRNR	388697	broad.mit.edu	37	1	152193333	152193333	+	Missense_Mutation	SNP	C	C	G	rs146460856	byFrequency	TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:152193333C>G	ENST00000368801.2	-	3	847	c.772G>C	c.(772-774)Gga>Cga	p.G258R	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	258					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCGTGTTGTCCGTAGCCAGAG	0.547000													6	454					0	0	8.12818e-05	0	0
USH1C	10083	broad.mit.edu	37	11	17517142	17517142	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr11:17517142C>G	ENST00000005226.7	-	26	2628	c.2629G>C	c.(2629-2631)Ggg>Cgg	p.G877R	USH1C_ENST00000318024.4_Intron|USH1C_ENST00000529563.1_Intron|USH1C_ENST00000527720.1_Intron|USH1C_ENST00000527020.1_Intron	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	0					equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						AGGAGGAACCCGTGTCTGTGC	0.612000													6	162					0	0	0.000274275	0	0
ZNF621	285268	broad.mit.edu	37	3	40574363	40574363	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr3:40574363G>T	ENST00000339296.5	+	5	1554	c.1102G>T	c.(1102-1104)Gtt>Ttt	p.V368F	ZNF621_ENST00000403205.2_Missense_Mutation_p.V368F|ZNF621_ENST00000310898.1_Intron|ZNF621_ENST00000431278.1_Missense_Mutation_p.V257F|ZNF621_ENST00000490457.1_Intron	NM_198484.3	NP_940886.1	Q6ZSS3	ZN621_HUMAN	zinc finger protein 621	368					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.V368F(1)		endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0515)|Kidney(284;0.0648)		catacctcctgttcttctcca	0.527000													9	6					0.000274275	0.0062264	0.000274275	1	0
SAFB2	9667	broad.mit.edu	37	19	5621405	5621405	+	Silent	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr19:5621405C>G	ENST00000252542.4	-	2	453	c.189G>C	c.(187-189)gcG>gcC	p.A63A		NM_014649.2	NP_055464.1	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	63	SAP.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding	p.A63A(2)		endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		CTTCTTTAACCGCCTATTAGG	0.443000													5	119					0	0	1.23904e-05	0	0
ASXL3	80816	broad.mit.edu	37	18	31319522	31319522	+	Silent	SNP	G	G	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr18:31319522G>A	ENST00000269197.5	+	11	2154	c.2154G>A	c.(2152-2154)ccG>ccA	p.P718P		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	718	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	p.P425P(1)|p.P718P(1)		breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						AAACCTCACCGATGTCTGACT	0.403000													203	333					0	0	0.000147903	0	0
WWC1	23286	broad.mit.edu	37	5	167850972	167850972	+	Missense_Mutation	SNP	C	C	G	rs146672179	byFrequency	TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr5:167850972C>G	ENST00000265293.4	+	11	2211	c.1709C>G	c.(1708-1710)cCg>cGg	p.P570R	WWC1_ENST00000521089.1_Missense_Mutation_p.P570R	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	570					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	p.P570R(1)		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)		TTTGAAGACCCGGAGCTGAGT	0.602000													4	117					0	0	1.23904e-05	0	0
OTOGL	283310	broad.mit.edu	37	12	80672915	80672915	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr12:80672915A>T	ENST00000458043.2	+	25	2876	c.2870A>T	c.(2869-2871)tAt>tTt	p.Y957F	OTOGL_ENST00000547103.1_Missense_Mutation_p.Y957F	NM_173591.3	NP_775862.3			otogelin-like									p.Y957F(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						GAATATGACTATATCAGTGAT	0.363000													44	99					0	0	0.000106405	0	0
PCSK2	5126	broad.mit.edu	37	20	17437055	17437055	+	Silent	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr20:17437055C>G	ENST00000262545.2	+	10	1479	c.1164C>G	c.(1162-1164)ccC>ccG	p.P388P	PCSK2_ENST00000536609.1_Silent_p.P353P|PCSK2_ENST00000377899.1_Silent_p.P369P	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	388	Catalytic.				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity	p.P388P(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CAGCTGCCCCCGAGGCAGCTG	0.532000													5	185					0	0	3.59834e-05	0	0
CSMD1	64478	broad.mit.edu	37	8	3165290	3165290	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr8:3165290C>A	ENST00000602557.1	-	26	4435	c.3880G>T	c.(3880-3882)Ggc>Tgc	p.G1294C	CSMD1_ENST00000542608.1_Missense_Mutation_p.G1293C|CSMD1_ENST00000602723.1_Missense_Mutation_p.G1294C|CSMD1_ENST00000520002.1_Missense_Mutation_p.G1294C|CSMD1_ENST00000400186.3_Missense_Mutation_p.G1294C|CSMD1_ENST00000537824.1_Missense_Mutation_p.G1293C|CSMD1_ENST00000539096.1_Missense_Mutation_p.G1293C			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1294	CUB 8.					integral to membrane		p.G1022C(1)|p.G1293C(1)		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)		GCTGGATAGCCAGGGGACAAT	0.483000													8	160					1.12685e-05	0.000271688	0.000274275	1	0
TXNDC2	84203	broad.mit.edu	37	18	9886894	9886894	+	Missense_Mutation	SNP	A	A	G	rs146821851		TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr18:9886894A>G	ENST00000306084.6	+	2	617	c.418A>G	c.(418-420)Aaa>Gaa	p.K140E	TXNDC2_ENST00000584255.1_3'UTR|TXNDC2_ENST00000536353.2_Missense_Mutation_p.K73E|TXNDC2_ENST00000357775.4_Missense_Mutation_p.K73E|TXNDC2_ENST00000426718.3_3'UTR	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	140	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	p.K140E(2)|p.K73E(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						GTCCTCAGAAAAAGCCATCCA	0.547000													4	59					0	0	1.23904e-05	0	0
MTMR7	9108	broad.mit.edu	37	8	17157580	17157580	+	Missense_Mutation	SNP	G	G	C	rs140365611		TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr8:17157580G>C	ENST00000180173.5	-	14	1808	c.1774C>G	c.(1774-1776)Cgg>Ggg	p.R592G	VPS37A_ENST00000521162.1_3'UTR|MTMR7_ENST00000398099.3_Missense_Mutation_p.R183G	NM_004686.4	NP_004677.3	Q9Y216	MTMR7_HUMAN	myotubularin related protein 7	592							protein tyrosine phosphatase activity	p.R592G(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32				Colorectal(111;0.112)		GAAGGGCTCCGGGATGGAAAT	0.478000													4	158					0	0	8.12818e-05	0	0
BAI1	575	broad.mit.edu	37	8	143623435	143623435	+	Silent	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr8:143623435G>T	ENST00000517894.1	+	28	4734	c.3840G>T	c.(3838-3840)ccG>ccT	p.P1280P	BAI1_ENST00000323289.5_Silent_p.P1280P			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1280					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	p.P1280P(1)		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)					ACAGCCTGCCGGCCAACGTGT	0.662000													7	14					3.86212e-05	0.000913839	3.86212e-05	1	0
TNNC2	7125	broad.mit.edu	37	20	44453140	44453140	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr20:44453140C>T	ENST00000372557.1	-	4	355	c.148G>A	c.(148-150)Gag>Aag	p.E50K	TNNC2_ENST00000372555.3_Missense_Mutation_p.E65K			P02585	TNNC2_HUMAN	troponin C type 2 (fast)	65	EF-hand 1.				muscle filament sliding|regulation of muscle contraction|skeletal muscle contraction	cytosol|troponin complex	calcium ion binding	p.E65K(1)		endometrium(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(115;0.0122)				TCACCGTCCTCATCCACCTCC	0.672000													22	38					0	0	0.000375601	0	0
SLC44A5	204962	broad.mit.edu	37	1	75684360	75684360	+	Silent	SNP	C	C	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:75684360C>T	ENST00000370855.5	-	17	1457	c.1344G>A	c.(1342-1344)ttG>ttA	p.L448L	SLC44A5_ENST00000535611.1_Silent_p.L318L|SLC44A5_ENST00000370859.3_Silent_p.L448L	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	448						integral to membrane|plasma membrane	choline transmembrane transporter activity	p.L448L(1)		kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						ACTGATGGTACAAGCTCTTTC	0.418000													20	12					0	0	0.000229342	0	0
PSD3	23362	broad.mit.edu	37	8	18541402	18541402	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr8:18541402C>G	ENST00000428502.2	-	1	207	c.41G>C	c.(40-42)cGg>cCg	p.R14P	PSD3_ENST00000523619.1_Intron|PSD3_ENST00000440756.2_Intron|PSD3_ENST00000286485.8_Intron|PSD3_ENST00000327040.8_Intron			Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	0					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		GGTCCTCACCCGTACCTTGCT	0.483000													5	171					0	0	1.23904e-05	0	0
CCDC160	347475	broad.mit.edu	37	X	133378844	133378844	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chrX:133378844G>A	ENST00000517294.1	+	3	397	c.14G>A	c.(13-15)aGa>aAa	p.R5K	CCDC160_ENST00000370809.4_Missense_Mutation_p.R5K			A6NGH7	CC160_HUMAN	coiled-coil domain containing 160	5								p.R5K(1)		endometrium(1)|kidney(2)|large_intestine(10)|lung(2)|prostate(1)|skin(1)	17						GATGCTAGAAGAAAACACTGG	0.368000													19	1					0	0	0.000132079	0	0
FBN2	2201	broad.mit.edu	37	5	127595291	127595291	+	Silent	SNP	G	G	T	rs137914321		TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr5:127595291G>T	ENST00000508053.1	-	71	9569	c.8595C>A	c.(8593-8595)ccC>ccA	p.P2865P	FBN2_ENST00000262464.4_Silent_p.P2865P			P35556	FBN2_HUMAN	fibrillin 2	2865					bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	p.P2865P(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TGTATGTGCCGGGCATGAGCT	0.507000													73	42					8.2577e-42	2.47802e-40	0.000147903	1	0
TTN	7273	broad.mit.edu	37	2	179465757	179465757	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr2:179465757C>G	ENST00000589042.1	-	288	56098	c.55874G>C	c.(55873-55875)gGg>gCg	p.G18625A	TTN_ENST00000591111.1_Missense_Mutation_p.G16984A|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G9752A|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G9685A|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G16057A|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G9560A|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16984							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.G16057A(2)|p.G9685A(1)|p.G9560A(1)|p.G9752A(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTCTTTGTCCCAGTAGGGTC	0.483000													4	206					0	0	1.23904e-05	0	0
SI	6476	broad.mit.edu	37	3	164741477	164741477	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr3:164741477C>A	ENST00000264382.3	-	26	3042	c.2980G>T	c.(2980-2982)Ggt>Tgt	p.G994C		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	994	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	p.G994C(1)		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)	GCTGTTATACCCATGGATGAA	0.403000										HNSCC(35;0.089)			27	46					9.04412e-07	2.22272e-05	9.22233e-05	1	0
KCTD19	146212	broad.mit.edu	37	16	67333438	67333438	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr16:67333438C>G	ENST00000304372.5	-	6	869	c.814G>C	c.(814-816)Ggg>Cgg	p.G272R	KCTD19_ENST00000562860.1_5'UTR	NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	272						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.G272R(1)		endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		GCCCCCTTCCCGGGGCTCAGG	0.637000													4	94					0	0	0.00024832	0	0
LAMB4	22798	broad.mit.edu	37	7	107708461	107708461	+	Splice_Site	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr7:107708461G>C	ENST00000388781.3	-	19	2529	c.2446_splice	c.e19+1	p.P816_splice	LAMB4_ENST00000388780.3_Splice_Site_p.P816_splice|LAMB4_ENST00000205386.4_Splice_Site_p.P816_splice	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	816	Laminin EGF-like 6.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TGCTACGTACGGTGACAGCCG	0.527000													8	341					0	0	6.40141e-05	0	0
CCNA2	890	broad.mit.edu	37	4	122742166	122742166	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr4:122742166C>T	ENST00000274026.5	-	3	841	c.538G>A	c.(538-540)Gag>Aag	p.E180K		NM_001237.3	NP_001228.1	P20248	CCNA2_HUMAN	cyclin A2	180					cell division|mitosis|mitotic cell cycle G2/M transition DNA damage checkpoint|Ras protein signal transduction|regulation of cyclin-dependent protein kinase activity	cytoplasm|nucleoplasm	protein kinase binding	p.E180K(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	12						TGAATATCCTCATGGTAGTCT	0.353000													41	108					0	0	0.000125731	0	0
KIAA0947	23379	broad.mit.edu	37	5	5464767	5464767	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr5:5464767C>T	ENST00000296564.7	+	13	5542	c.5320C>T	c.(5320-5322)Caa>Taa	p.Q1774*		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	1774								p.Q1774*(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						AGGGAATATTCAACTCACACG	0.493000													13	22					0	0	0.00010058	0	0
GALNT7	51809	broad.mit.edu	37	4	174223255	174223255	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr4:174223255G>T	ENST00000265000.4	+	7	1289	c.1206G>T	c.(1204-1206)ttG>ttT	p.L402F		NM_017423.2	NP_059119.2	Q86SF2	GALT7_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7)	402	Catalytic subdomain B.				protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.L402F(1)		central_nervous_system(1)|kidney(3)|large_intestine(5)|liver(1)|lung(9)	19		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199)		TCTTTGAATTGGGTCTCTATG	0.418000													11	215					0.000308642	0.0069839	0.000308642	1	0
ANKIB1	54467	broad.mit.edu	37	7	92021572	92021572	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr7:92021572G>C	ENST00000265742.3	+	17	2625	c.2249G>C	c.(2248-2250)tGg>tCg	p.W750S		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	750							protein binding|zinc ion binding	p.W750S(1)		cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GGTGGAACATGGGATTGGGAA	0.338000													7	470					0	0	0.000274275	0	0
TNN	63923	broad.mit.edu	37	1	175048794	175048794	+	Silent	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:175048794G>C	ENST00000239462.4	+	3	848	c.735G>C	c.(733-735)acG>acC	p.T245T		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	245	EGF-like 3.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		p.T245T(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		TCTGTGACACGGGCGAGTGCT	0.662000													3	10					0	0	6.4e-05	0	0
ATP2B4	493	broad.mit.edu	37	1	203696691	203696691	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:203696691C>G	ENST00000357681.5	+	20	4424	c.3301C>G	c.(3301-3303)Cag>Gag	p.Q1101E	ATP2B4_ENST00000466407.1_3'UTR|ATP2B4_ENST00000391954.2_Missense_Mutation_p.Q1065E|ATP2B4_ENST00000367219.3_Missense_Mutation_p.Q1089E|ATP2B4_ENST00000341360.2_Missense_Mutation_p.Q1101E|ATP2B4_ENST00000367218.3_Missense_Mutation_p.Q1101E	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	1101	Calmodulin-binding subdomain A.				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	p.Q1101E(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GAACCGTATCCAGACTCAGGT	0.572000													4	65					0	0	1.23904e-05	0	0
CD2BP2	10421	broad.mit.edu	37	16	30365255	30365255	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr16:30365255C>A	ENST00000305596.3	-	4	517	c.342G>T	c.(340-342)caG>caT	p.Q114H	CD2BP2_ENST00000569466.1_Missense_Mutation_p.Q114H	NM_006110.2	NP_006101.1	O95400	CD2B2_HUMAN	CD2 (cytoplasmic tail) binding protein 2	114					assembly of spliceosomal tri-snRNP	cytoplasm|nucleoplasm|U5 snRNP	protein binding|ribonucleoprotein binding	p.Q114H(1)		breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	15						TGTCTCGGATCTGAGCATCCC	0.632000													82	29					1.30681e-28	3.80717e-27	0.000147903	1	0
ZNF705B	100132396	broad.mit.edu	37	8	7806690	7806690	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr8:7806690C>G	ENST00000443676.1	+	3	168	c.52C>G	c.(52-54)Cag>Gag	p.Q18E	ZNF705B_ENST00000400120.3_Missense_Mutation_p.Q18E			P0CI00	Z705L_HUMAN	zinc finger protein 705B	18	KRAB.				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.Q18E(2)		kidney(2)|lung(2)	4						TGACTTCACCCAGGAAGAGTG	0.428000													74	22					0	0	0.000147903	0	0
BICC1	80114	broad.mit.edu	37	10	60549475	60549475	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr10:60549475G>C	ENST00000373886.3	+	8	833	c.829G>C	c.(829-831)Ggg>Cgg	p.G277R		NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	bicaudal C homolog 1 (Drosophila)	277					multicellular organismal development		RNA binding	p.G277R(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						ACATCTTGCTGGGAGCTTAGC	0.403000													5	247					0	0	3.59834e-05	0	0
GUSB	2990	broad.mit.edu	37	7	65426034	65426034	+	Silent	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr7:65426034C>G	ENST00000304895.4	-	12	1936	c.1806G>C	c.(1804-1806)ctG>ctC	p.L602L	GUSB_ENST00000421103.1_Silent_p.L456L|GUSB_ENST00000345660.6_Silent_p.L551L	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN	glucuronidase, beta	602					glycosaminoglycan catabolic process	lysosome	beta-glucuronidase activity|cation binding	p.L602L(1)		breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						TTTTATTCCCCAGCACTCTCG	0.448000													6	228					0	0	3.59834e-05	0	0
LOC286059	286059	broad.mit.edu	37	8	22938829	22938829	+	RNA	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr8:22938829G>T	ENST00000501897.1	+	0	333					NR_038873.1																						AGGACCAACTGGTGGGCTCCA	0.473000													11	17					3.86212e-05	0.000913839	3.86212e-05	1	0
BRINP2	57795	broad.mit.edu	37	1	177199204	177199204	+	Silent	SNP	C	C	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:177199204C>T	ENST00000361539.4	+	2	504	c.192C>T	c.(190-192)ccC>ccT	p.P64P		NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		64						extracellular region		p.P64P(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						ACCGGGGCCCCTTCCACCGCG	0.627000													48	24					0	0	0.000147903	0	0
KIAA1024	23251	broad.mit.edu	37	15	79750551	79750551	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr15:79750551G>C	ENST00000305428.3	+	2	2137	c.2062G>C	c.(2062-2064)Ggg>Cgg	p.G688R		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	688						integral to membrane		p.G688R(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						TGATGCTAGCGGGAGCAACAG	0.557000													4	124					0	0	1.23904e-05	0	0
DNAH7	56171	broad.mit.edu	37	2	196912157	196912157	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr2:196912157C>A	ENST00000312428.6	-	5	417	c.317G>T	c.(316-318)gGa>gTa	p.G106V	DNAH7_ENST00000410072.1_Missense_Mutation_p.G106V	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	106	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.G106V(1)		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						AGTAGATGGTCCAACATAACT	0.323000													87	137					3.07327e-39	9.12455e-38	0.000147903	1	0
DTX4	23220	broad.mit.edu	37	11	58949675	58949675	+	Silent	SNP	A	A	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr11:58949675A>C	ENST00000227451.3	+	2	779	c.675A>C	c.(673-675)ggA>ggC	p.G225G	DTX4_ENST00000532982.1_Silent_p.G119G	NM_015177.1	NP_055992.1	Q9Y2E6	DTX4_HUMAN	deltex homolog 4 (Drosophila)	225					Notch signaling pathway	cytoplasm	zinc ion binding	p.G119G(1)|p.G225G(1)		central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20		all_epithelial(135;0.125)				CGCCTCCTGGAGTGGTCAAGC	0.627000													13	24					0	0	0.00010058	0	0
DYNC2LI1	51626	broad.mit.edu	37	2	44016823	44016823	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr2:44016823G>T	ENST00000398823.2	+	5	358	c.283G>T	c.(283-285)Gac>Tac	p.D95Y	DYNC2LI1_ENST00000260605.8_Missense_Mutation_p.D95Y|DYNC2LI1_ENST00000443170.3_5'UTR|DYNC2LI1_ENST00000489222.2_3'UTR|DYNC2LI1_ENST00000406852.3_Missense_Mutation_p.D95Y|DYNC2LI1_ENST00000605786.1_Missense_Mutation_p.D95Y			Q8TCX1	DC2L1_HUMAN	dynein, cytoplasmic 2, light intermediate chain 1	95						apical part of cell|axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|motile primary cilium	motor activity	p.D95Y(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|skin(1)	26		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CTCTTTATTGGACTTAATCAG	0.403000													53	93					1.02487e-32	3.02358e-31	0.000147903	1	0
NCKAP1L	3071	broad.mit.edu	37	12	54925050	54925050	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr12:54925050G>C	ENST00000293373.6	+	23	2592	c.2513G>C	c.(2512-2514)cGg>cCg	p.R838P	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.R788P	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	838					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	p.R838P(1)		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						CCAGAGATGCGGGCCTTGGCA	0.473000													5	235					0	0	1.23904e-05	0	0
MGAM	8972	broad.mit.edu	37	7	141800678	141800678	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr7:141800678G>T	ENST00000475668.2	+	68	8005	c.7951G>T	c.(7951-7953)Ggg>Tgg	p.G2651W	MGAM_ENST00000549489.2_Missense_Mutation_p.G1755W			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1755					polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	p.G1755W(2)|p.G2652W(1)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CTGGGATGATGGGCAAAGCAT	0.502000													9	11					9.70103e-10	2.44872e-08	3.86212e-05	1	0
FGGY	55277	broad.mit.edu	37	1	59787238	59787238	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:59787238A>T	ENST00000371218.4	+	2	201	c.17A>T	c.(16-18)cAg>cTg	p.Q6L	FGGY_ENST00000474476.1_Intron|FGGY_ENST00000371212.1_Missense_Mutation_p.Q6L|FGGY_ENST00000303721.7_Missense_Mutation_p.Q6L	NM_001113411.1	NP_001106882.1	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	6					carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor	p.Q6L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					GGTGGAGAACAGAAACCAGAG	0.493000													17	52					0	0	0.000229342	0	0
CCDC67	159989	broad.mit.edu	37	11	93118683	93118683	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr11:93118683C>A	ENST00000298050.3	+	8	1009	c.909C>A	c.(907-909)tgC>tgA	p.C303*	CCDC67_ENST00000525646.1_Nonsense_Mutation_p.C45*	NM_181645.3	NP_857596.2	Q05D60	CCD67_HUMAN	coiled-coil domain containing 67	303								p.C295*(1)		endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				TAGGAGAGTGCCAAAATGCTC	0.303000													21	59					7.92952e-12	2.05345e-10	7.16444e-05	1	0
ACP1	52	broad.mit.edu	37	2	277079	277079	+	Silent	SNP	C	C	G	rs144534474		TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr2:277079C>G	ENST00000272067.6	+	5	489	c.393C>G	c.(391-393)ccC>ccG	p.P131P	ACP1_ENST00000272065.5_Silent_p.P131P|ACP1_ENST00000484464.1_3'UTR	NM_007099.3	NP_009030.1	P24666	PPAC_HUMAN	acid phosphatase 1, soluble	131						cytoplasm|internal side of plasma membrane|nucleus|soluble fraction	acid phosphatase activity|identical protein binding|non-membrane spanning protein tyrosine phosphatase activity	p.P131P(3)		endometrium(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00175)|Lung NSC(108;0.216)|all_epithelial(98;0.236)		all cancers(51;0.000391)|Epithelial(75;0.00281)|OV - Ovarian serous cystadenocarcinoma(76;0.00542)|GBM - Glioblastoma multiforme(21;0.127)		TTGAAGATCCCTATTATGTAA	0.323000													5	79					0	0	1.23904e-05	0	0
NDST3	9348	broad.mit.edu	37	4	119059263	119059263	+	Missense_Mutation	SNP	G	G	A	rs150758016	byFrequency	TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr4:119059263G>A	ENST00000296499.5	+	5	1682	c.1279G>A	c.(1279-1281)Gtc>Atc	p.V427I	NDST3_ENST00000433996.2_Missense_Mutation_p.V346I	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	427	Heparan sulfate N-deacetylase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	p.V427I(3)		NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						CCATTCGGGCGTCTACCCTGT	0.468000													31	58					0	0	0.000339439	0	0
OR52E6	390078	broad.mit.edu	37	11	5862711	5862711	+	Silent	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr11:5862711G>C	ENST00000329322.5	-	1	416	c.417C>G	c.(415-417)acC>acG	p.T139T	OR52E6_ENST00000379946.2_Silent_p.T143T|TRIM5_ENST00000380027.1_Intron	NM_001005167.1	NP_001005167.1	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E, member 6	139					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T143T(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGATTTTGCTGGTGAGGATCA	0.488000													5	231					0	0	1.23904e-05	0	0
NRF1	4899	broad.mit.edu	37	7	129348937	129348937	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr7:129348937C>A	ENST00000393232.1	+	6	746	c.629C>A	c.(628-630)cCa>cAa	p.P210Q	NRF1_ENST00000393230.2_Missense_Mutation_p.P210Q|NRF1_ENST00000393231.3_Missense_Mutation_p.P210Q|NRF1_ENST00000311967.2_Missense_Mutation_p.P210Q|NRF1_ENST00000539636.1_Missense_Mutation_p.P49Q|NRF1_ENST00000223190.4_Missense_Mutation_p.P210Q|NRF1_ENST00000353868.4_Missense_Mutation_p.P210Q	NM_005011.3	NP_005002.3	Q16656	NRF1_HUMAN	nuclear respiratory factor 1	210					generation of precursor metabolites and energy|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding	p.P210K(1)		breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	24						GCATTTATCCCAGAGATGCTC	0.493000													14	477					0.000422831	0.0095523	0.000422831	1	0
ASTN1	460	broad.mit.edu	37	1	176918392	176918392	+	Silent	SNP	C	C	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:176918392C>T	ENST00000367654.2	-	12	2020	c.2007G>A	c.(2005-2007)gaG>gaA	p.E669E	ASTN1_ENST00000424564.2_Silent_p.E661E|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Silent_p.E661E|ASTN1_ENST00000361833.2_Silent_p.E661E			O14525	ASTN1_HUMAN	astrotactin 1	669	EGF-like 3.				cell migration|neuron cell-cell adhesion	integral to membrane		p.E661E(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GGCACAGCTGCTCACAGCCGC	0.617000											OREG0014004	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	37	18					0	0	0.000159656	0	0
CTNNA2	1496	broad.mit.edu	37	2	80801386	80801386	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr2:80801386C>G	ENST00000466387.1	+	17	2564	c.1840C>G	c.(1840-1842)Cgc>Ggc	p.R614G	CTNNA2_ENST00000402739.4_Missense_Mutation_p.R614G|CTNNA2_ENST00000343114.3_Missense_Mutation_p.R293G|CTNNA2_ENST00000541047.1_Missense_Mutation_p.R614G|CTNNA2_ENST00000496558.1_Missense_Mutation_p.R614G|CTNNA2_ENST00000361291.4_Missense_Mutation_p.R648G|CTNNA2_ENST00000540488.1_Missense_Mutation_p.R614G			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	614					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	p.R614G(1)|p.L615V(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						CGATGCCTCTCGCCTGGTGTA	0.527000													5	154					0	0	3.59834e-05	0	0
SYNDIG1L	646658	broad.mit.edu	37	14	74876062	74876062	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr14:74876062C>A	ENST00000331628.3	-	2	633	c.386G>T	c.(385-387)cGg>cTg	p.R129L	SYNDIG1L_ENST00000554823.1_Missense_Mutation_p.R129L	NM_001105579.1	NP_001099049.1	A6NDD5	SYN1L_HUMAN	synapse differentiation inducing 1-like	129					response to biotic stimulus	Golgi apparatus|integral to membrane		p.R129L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|lung(8)|pancreas(1)|prostate(1)|skin(1)	14						CTCCTGGTCCCGCAGCTCCTC	0.562000													7	95					0.000442599	0.00988708	0.000442599	1	0
SWI5	375757	broad.mit.edu	37	9	131039032	131039032	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr9:131039032C>G	ENST00000320188.4	+	2	424	c.424C>G	c.(424-426)Cct>Gct	p.P142A		NM_001040011.1	NP_001035100.1	Q1ZZU3	SWI5_HUMAN	SWI5 recombination repair homolog (yeast)	142					double-strand break repair via homologous recombination	Swi5-Sfr1 complex	protein binding	p.P142A(1)									CTTCCGATCCCCTGTGAGTAT	0.607000													52	87					0	0	0.000147903	0	0
CDH17	1015	broad.mit.edu	37	8	95183133	95183133	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr8:95183133C>G	ENST00000027335.3	-	8	988	c.864G>C	c.(862-864)caG>caC	p.Q288H	CDH17_ENST00000450165.2_Missense_Mutation_p.Q288H|CDH17_ENST00000441892.2_Intron	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	288	Cadherin 3.					integral to membrane	calcium ion binding	p.Q288H(1)		NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			TATCTCCTTCCTGGTCAATTG	0.468000													5	196					0	0	1.23904e-05	0	0
OR51E2	81285	broad.mit.edu	37	11	4702997	4702997	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr11:4702997C>A	ENST00000396950.3	-	2	1184	c.945G>T	c.(943-945)caG>caT	p.Q315H		NM_030774.3	NP_110401.1	Q9H255	O51E2_HUMAN	olfactory receptor, family 51, subfamily E, member 2	315					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q315H(1)		NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		CTCCCACAGCCTGCAAGTCCT	0.438000													27	39					5.45727e-16	1.47041e-14	0.000227799	1	0
PLRG1	5356	broad.mit.edu	37	4	155468953	155468953	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr4:155468953G>T	ENST00000499023.2	-	3	295	c.169C>A	c.(169-171)Cat>Aat	p.H57N	PLRG1_ENST00000302078.5_Missense_Mutation_p.H57N|PLRG1_ENST00000393905.2_Missense_Mutation_p.H57N	NM_001201564.1|NM_002669.3	NP_001188493.1|NP_002660.1	O43660	PLRG1_HUMAN	pleiotropic regulator 1	57						catalytic step 2 spliceosome|nuclear speck	protein binding|signal transducer activity|transcription corepressor activity	p.H57N(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|skin(1)|urinary_tract(1)	22	all_hematologic(180;0.215)	Renal(120;0.0854)				GTAGGCATATGCAACACAGGA	0.348000													25	52					8.24728e-16	2.21363e-14	9.22233e-05	1	0
EXOC2	55770	broad.mit.edu	37	6	486758	486758	+	Silent	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr6:486758C>G	ENST00000230449.4	-	28	2823	c.2688G>C	c.(2686-2688)ctG>ctC	p.L896L	EXOC2_ENST00000448181.3_Silent_p.L491L	NM_018303.4	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	896					exocytosis|protein transport			p.L896L(2)		breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		GGAGCTCTTCCAGTAACCTGC	0.517000													4	82					0	0	0.00024832	0	0
EZH2	2146	broad.mit.edu	37	7	148544378	148544378	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr7:148544378C>G	ENST00000320356.2	-	2	134	c.13G>C	c.(13-15)Ggg>Cgg	p.G5R	EZH2_ENST00000541220.1_Missense_Mutation_p.G5R|EZH2_ENST00000460911.1_Missense_Mutation_p.G5R|EZH2_ENST00000536783.1_5'UTR|EZH2_ENST00000483967.1_Missense_Mutation_p.G5R|EZH2_ENST00000478654.1_Missense_Mutation_p.G5R|EZH2_ENST00000476773.1_Missense_Mutation_p.G5R|EZH2_ENST00000350995.2_Missense_Mutation_p.G5R	NM_001203247.1|NM_001203248.1|NM_004456.4	NP_001190176.1|NP_001190177.1|NP_004447.2	Q15910	EZH2_HUMAN	enhancer of zeste homolog 2 (Drosophila)	5	Interaction with DNMT1, DNMT3A and DNMT3B.				negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding	p.G5R(2)|p.G5W(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			GATTTCTTCCCAGTCTGGCCC	0.423000			Mis		DLBCL								6	345					0	0	0.000157383	0	0
SAPCD2	89958	broad.mit.edu	37	9	139960771	139960771	+	Silent	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr9:139960771G>C	ENST00000409687.3	-	2	754	c.627C>G	c.(625-627)ccC>ccG	p.P209P		NM_178448.3	NP_848543.2	Q86UD0	CI140_HUMAN	suppressor APC domain containing 2	209						cytoplasm|nucleus		p.P204P(1)									CTCGGGCACGGGGAGCCCGCC	0.701000													3	16					0	0	1.23904e-05	0	0
AGBL1	123624	broad.mit.edu	37	15	87066061	87066061	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr15:87066061G>C	ENST00000441037.2	+	18	2533	c.2438G>C	c.(2437-2439)gGg>gCg	p.G813A	AGBL1_ENST00000421325.2_Missense_Mutation_p.G813A|AGBL1_ENST00000389298.3_Missense_Mutation_p.G544A	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	813					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	p.G813S(1)		NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						TCACTGAGCGGGGAAGATTTG	0.433000													4	96					0	0	0.00024832	0	0
FAM209A	200232	broad.mit.edu	37	20	55100931	55100931	+	Silent	SNP	C	C	A	rs1054347		TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr20:55100931C>A	ENST00000371328.3	+	2	644	c.321C>A	c.(319-321)ccC>ccA	p.P107P	GCNT7_ENST00000243913.4_5'UTR|FAM209A_ENST00000481560.1_3'UTR	NM_001012971.3	NP_001012989.2			family with sequence similarity 209, member A									p.P107P(1)									ATGCTTCCCCCAACAAAGACT	0.453000													8	126					0.000157383	0.00364379	0.000157383	1	0
DNAH9	1770	broad.mit.edu	37	17	11572723	11572723	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr17:11572723C>T	ENST00000262442.3	+	17	3033	c.2965C>T	c.(2965-2967)Cgg>Tgg	p.R989W	DNAH9_ENST00000454412.2_Missense_Mutation_p.R989W	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	989	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R989W(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GGCAAACATGCGGCGCACACT	0.557000													13	9					0	0	0.000151284	0	0
EPHB4	2050	broad.mit.edu	37	7	100411606	100411606	+	Silent	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr7:100411606C>G	ENST00000358173.3	-	9	2094	c.1626G>C	c.(1624-1626)gcG>gcC	p.A542A	EPHB4_ENST00000360620.3_Silent_p.A542A	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	542					cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity	p.A542A(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					CTGCCGTGCCCGCAATCAGGG	0.647000													4	75					0	0	3.59834e-05	0	0
EPS15L1	58513	broad.mit.edu	37	19	16487937	16487937	+	Silent	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr19:16487937G>C	ENST00000455140.2	-	22	2442	c.2376C>G	c.(2374-2376)ccC>ccG	p.P792P	EPS15L1_ENST00000535753.2_Intron|EPS15L1_ENST00000248070.6_Silent_p.P792P|EPS15L1_ENST00000594975.1_Intron	NM_001258374.1	NP_001245303.1	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	792	15 X 3 AA repeats of D-P-F.|Pro-rich.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding	p.P792P(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						ACTGACCGCTGGGCGGTTTAG	0.607000											OREG0025332	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	43					0	0	1.23904e-05	0	0
OXGR1	27199	broad.mit.edu	37	13	97639335	97639335	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr13:97639335G>C	ENST00000298440.1	-	4	922	c.679C>G	c.(679-681)Cat>Gat	p.H227D	OXGR1_ENST00000543457.1_Missense_Mutation_p.H227D	NM_080818.3	NP_543008.3	Q96P68	OXGR1_HUMAN	oxoglutarate (alpha-ketoglutarate) receptor 1	227						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.H227D(1)		NS(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15	all_neural(89;0.0982)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.186)			TGCAGTCCATGGGTCAGAGTG	0.428000													5	69					0	0	1.23904e-05	0	0
TMEM129	92305	broad.mit.edu	37	4	1719959	1719959	+	Silent	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr4:1719959C>G	ENST00000382936.3	-	2	1093	c.600G>C	c.(598-600)tcG>tcC	p.S200S	TMEM129_ENST00000536901.1_Silent_p.S200S|TMEM129_ENST00000303277.2_Silent_p.S200S	NM_001127266.1	NP_001120738.1	A0AVI4	TM129_HUMAN	transmembrane protein 129	200						integral to membrane		p.S200S(1)		lung(2)	2			OV - Ovarian serous cystadenocarcinoma(23;0.00765)			TCGAGTCTGGCGAGAGCTCAT	0.607000													3	7					0	0	0.00024832	0	0
ESRRG	2104	broad.mit.edu	37	1	216824331	216824331	+	Silent	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:216824331C>G	ENST00000391890.3	-	5	1021	c.504G>C	c.(502-504)gtG>gtC	p.V168V	ESRRG_ENST00000493748.1_Silent_p.V168V|ESRRG_ENST00000366938.2_Silent_p.V168V|ESRRG_ENST00000366940.2_Silent_p.V168V|ESRRG_ENST00000487276.1_Silent_p.V168V|ESRRG_ENST00000361525.3_Silent_p.V168V|ESRRG_ENST00000361395.2_Silent_p.V168V|ESRRG_ENST00000408911.3_Silent_p.V191V|ESRRG_ENST00000366937.1_Silent_p.V196V|ESRRG_ENST00000359162.2_Silent_p.V168V|ESRRG_ENST00000493603.1_Silent_p.V168V|ESRRG_ENST00000360012.3_Silent_p.V168V|ESRRG_ENST00000463665.1_Intron	NM_001243515.1|NM_001243519.1	NP_001230444.1|NP_001230448.1	P62508	ERR3_HUMAN	estrogen-related receptor gamma	191					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.V191V(1)		endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	TCAGCATGCCCACTTTTAAAC	0.463000													5	183					0	0	8.12818e-05	0	0
CNTN4	152330	broad.mit.edu	37	3	2928832	2928832	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr3:2928832G>T	ENST00000397461.1	+	9	1248	c.864G>T	c.(862-864)gaG>gaT	p.E288D	CNTN4_ENST00000418658.1_Missense_Mutation_p.E288D|CNTN4_ENST00000427331.1_Missense_Mutation_p.E288D|CNTN4_ENST00000358480.3_Missense_Mutation_p.E69D	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	288	Ig-like C2-type 3.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	p.E288D(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		TTCAGCAGGAGGATGCTGGTT	0.398000													26	37					5.45024e-15	1.44623e-13	0.00047179	1	0
DCHS2	54798	broad.mit.edu	37	4	155241831	155241831	+	Missense_Mutation	SNP	G	G	C	rs139445399		TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr4:155241831G>C	ENST00000357232.3	-	14	3354	c.3355C>G	c.(3355-3357)Cgt>Ggt	p.R1119G		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1119	Cadherin 9.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CTGTCAAGACGGGACACAGTG	0.463000													6	255					0	0	8.12818e-05	0	0
TMEM167A	153339	broad.mit.edu	37	5	82360853	82360853	+	Silent	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr5:82360853G>C	ENST00000502346.1	-	2	259	c.87C>G	c.(85-87)ccC>ccG	p.P29P	TMEM167A_ENST00000511450.1_5'UTR	NM_174909.4	NP_777569.1	Q8TBQ9	KISHA_HUMAN	transmembrane protein 167A	29						Golgi membrane|integral to membrane		p.P29P(1)		large_intestine(1)|lung(1)	2						CCAGGAGGCTGGGTGCCAAGG	0.323000													5	122					0	0	8.12818e-05	0	0
NUFIP2	57532	broad.mit.edu	37	17	27613442	27613442	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr17:27613442C>A	ENST00000225388.4	-	2	1628	c.1570G>T	c.(1570-1572)Ggg>Tgg	p.G524W	NUFIP2_ENST00000579665.1_Intron	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	nuclear fragile X mental retardation protein interacting protein 2	524						nucleus|polysomal ribosome	protein binding|RNA binding	p.G524W(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			GATGACTTCCCAGTAACAGTC	0.458000													6	84					8.12818e-05	0.00190393	8.12818e-05	1	0
EI24	9538	broad.mit.edu	37	11	125448101	125448101	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr11:125448101G>T	ENST00000278903.6	+	6	631	c.389G>T	c.(388-390)tGg>tTg	p.W130L	STT3A-AS1_ENST00000530526.1_RNA|EI24_ENST00000343678.4_Missense_Mutation_p.W130L|STT3A-AS1_ENST00000532714.1_RNA|EI24_ENST00000530985.1_3'UTR	NM_004879.3	NP_004870.3	O14681	EI24_HUMAN	etoposide induced 2.4	130					apoptosis|autophagy|induction of apoptosis|negative regulation of cell growth	endoplasmic reticulum membrane|integral to membrane|nuclear membrane		p.W130L(2)		large_intestine(1)|lung(9)|ovary(1)	11	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.64e-07)|OV - Ovarian serous cystadenocarcinoma(99;0.0975)		AGTGCTCTTTGGGTGCTCCCC	0.488000													8	160					1.12685e-05	0.000271688	0.000274275	1	0
PTER	9317	broad.mit.edu	37	10	16528530	16528530	+	Silent	SNP	G	G	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr10:16528530G>A	ENST00000378000.1	+	4	858	c.612G>A	c.(610-612)cgG>cgA	p.R204R	PTER_ENST00000298942.3_Silent_p.R204R|PTER_ENST00000485788.1_3'UTR|PTER_ENST00000535784.2_Silent_p.R204R|PTER_ENST00000423462.2_Silent_p.R204R	NM_001001484.2|NM_001261838.1|NM_030664.4	NP_001001484.1|NP_001248767.1|NP_109589.2	Q96BW5	PTER_HUMAN	phosphotriesterase related	204					catabolic process		hydrolase activity, acting on ester bonds|zinc ion binding	p.R204R(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)	15						ATCCTGGACGGAGCTCCAGGG	0.507000													45	69					0	0	0.000125731	0	0
FOCAD	54914	broad.mit.edu	37	9	20881959	20881959	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr9:20881959C>G	ENST00000380249.1	+	22	2771	c.2407C>G	c.(2407-2409)Cgc>Ggc	p.R803G	FOCAD_ENST00000338382.6_Missense_Mutation_p.R803G|FOCAD_ENST00000605086.1_Missense_Mutation_p.R239G	NM_017794.3	NP_060264.3	Q5VW36	K1797_HUMAN	focadhesin	803						integral to membrane	binding										AGGAGGTGCCCGCTCAGACCA	0.413000													6	106					0	0	0.000157383	0	0
ATRIP	84126	broad.mit.edu	37	3	48502063	48502063	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr3:48502063C>G	ENST00000412052.1	+	8	1793	c.1331C>G	c.(1330-1332)cCa>cGa	p.P444R	ATRIP_ENST00000357105.6_Missense_Mutation_p.P410R|ATRIP_ENST00000320211.3_Missense_Mutation_p.P537R|ATRIP_ENST00000346691.4_Missense_Mutation_p.P537R	NM_001271023.1	NP_001257952.1	Q8WXE1	ATRIP_HUMAN	ATR interacting protein	537					DNA damage checkpoint|DNA repair|DNA replication	nucleoplasm	protein binding|protein serine/threonine kinase activity	p.P537R(1)		central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)	22				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGACAGCACCCACTGTTGAAG	0.522000								Other conserved DNA damage response genes					4	72					0	0	0.00024832	0	0
NXF2B	728343	broad.mit.edu	37	X	101623759	101623759	+	Silent	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chrX:101623759C>A	ENST00000457521.2	-	19	2474	c.603G>T	c.(601-603)gcG>gcT	p.A201A	NXF2B_ENST00000372749.1_Silent_p.A201A|NXF2B_ENST00000412230.2_Silent_p.A201A|NXF2B_ENST00000372750.1_Silent_p.A201A|NXF2B_ENST00000372752.1_Silent_p.A113A					nuclear RNA export factor 2B									p.A201A(1)		breast(1)|kidney(1)|lung(4)|ovary(1)	7						CAGAGTAGGGCGCAGTAGAAT	0.488000													19	37					1.61863e-15	4.33618e-14	0.000147903	1	0
NOD2	64127	broad.mit.edu	37	16	50733803	50733803	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr16:50733803G>A	ENST00000300589.2	+	2	583	c.478G>A	c.(478-480)Ggt>Agt	p.G160S	NOD2_ENST00000526417.2_3'UTR	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	160	CARD 2.				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	p.G160S(1)		cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				ATGGGAGCGGGGTTTCGTCAG	0.587000													14	33					0	0	5.01169e-05	0	0
CNTNAP2	26047	broad.mit.edu	37	7	148112658	148112658	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr7:148112658C>T	ENST00000361727.3	+	24	4462	c.3946C>T	c.(3946-3948)Ccc>Tcc	p.P1316S	CNTNAP2_ENST00000463592.2_3'UTR|CNTNAP2_ENST00000538075.1_Missense_Mutation_p.P375S	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	1316					behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.P1316S(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GAACAACGACCCCAACTTCAC	0.547000										HNSCC(39;0.1)			32	64					0	0	0.000191422	0	0
GRIP2	80852	broad.mit.edu	37	3	14555810	14555810	+	RNA	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr3:14555810G>C	ENST00000273083.3	-	0	1547							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						CTCTCAGCCGGACTGTCAGGC	0.632000													3	7					0	0	6.4e-05	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107460085	107460085	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr2:107460085C>G	ENST00000409382.3	-	2	959	c.349G>C	c.(349-351)Ggg>Cgg	p.G117R	ST6GAL2_ENST00000361686.4_Missense_Mutation_p.G117R|ST6GAL2_ENST00000409087.3_Missense_Mutation_p.G117R	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	117					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	p.G117R(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						GATTTTCTCCCCACCTGGGAT	0.532000													5	129					0	0	3.59834e-05	0	0
SEMA3C	10512	broad.mit.edu	37	7	80387660	80387660	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr7:80387660G>T	ENST00000265361.3	-	15	2191	c.1630C>A	c.(1630-1632)Cca>Aca	p.P544T	SEMA3C_ENST00000419255.2_Missense_Mutation_p.P544T|SEMA3C_ENST00000544525.1_Missense_Mutation_p.P562T	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	544					immune response|response to drug	membrane	receptor activity	p.P544T(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TTCCCAGTTGGGTAGAATCTG	0.502000													36	55					9.62906e-15	2.55024e-13	0.000228196	1	0
ABCE1	6059	broad.mit.edu	37	4	146044398	146044398	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr4:146044398G>C	ENST00000296577.4	+	15	1921	c.1406G>C	c.(1405-1407)cGa>cCa	p.R469P	OTUD4_ENST00000455611.2_Intron|ABCE1_ENST00000502803.1_3'UTR	NM_001040876.1|NM_002940.2	NP_001035809.1|NP_002931.2	P61221	ABCE1_HUMAN	ATP-binding cassette, sub-family E (OABP), member 1	469	ABC transporter 2.				interspecies interaction between organisms|response to virus|RNA catabolic process	mitochondrion	ATP binding|ATPase activity|electron carrier activity|iron-sulfur cluster binding|ribonuclease inhibitor activity	p.R469P(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3)	18	all_hematologic(180;0.151)					GAACTACAGCGAGTAGCTTTA	0.378000													4	99					0	0	1.23904e-05	0	0
CCDC15	80071	broad.mit.edu	37	11	124857163	124857163	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr11:124857163G>C	ENST00000529051.1	+	8	1300	c.1041G>C	c.(1039-1041)caG>caC	p.Q347H	CCDC15_ENST00000344762.5_Missense_Mutation_p.Q347H			Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	347						centrosome		p.Q347H(2)		central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		TGGAAACCCAGGGTGATTTGA	0.473000													6	180					0	0	3.59834e-05	0	0
PSD	5662	broad.mit.edu	37	10	104171930	104171930	+	Silent	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr10:104171930C>G	ENST00000020673.5	-	7	2329	c.1803G>C	c.(1801-1803)acG>acC	p.T601T	PSD_ENST00000406432.1_Silent_p.T601T	NM_001270966.1|NM_002779.3	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	601	SEC7.				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)		GAGTCATGCCCGTGAAGACAA	0.582000													5	156					0	0	8.12818e-05	0	0
FER1L6	654463	broad.mit.edu	37	8	125022894	125022894	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr8:125022894G>T	ENST00000522917.1	+	14	1967	c.1761G>T	c.(1759-1761)tgG>tgT	p.W587C	FER1L6-AS1_ENST00000518567.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.W587C	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	587						integral to membrane		p.W587C(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TCAGCTCTTGGGGAGACCAGA	0.458000													10	242					0.00010058	0.0023481	0.00010058	1	0
CRYGB	1419	broad.mit.edu	37	2	209010521	209010521	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr2:209010521G>A	ENST00000260988.4	-	2	276	c.229C>T	c.(229-231)Cgc>Tgc	p.R77C		NM_005210.3	NP_005201.2	P07316	CRGB_HUMAN	crystallin, gamma B	77	Beta/gamma crystallin 'Greek key' 2.				visual perception		structural constituent of eye lens	p.R77C(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)	14				Epithelial(149;0.0641)|LUSC - Lung squamous cell carcinoma(261;0.0703)|Lung(261;0.132)		CAGCAGGAGCGGATGGAGTCG	0.502000													5	102					0	0	3.59834e-05	0	0
PCCB	5096	broad.mit.edu	37	3	135974715	135974715	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr3:135974715G>T	ENST00000471595.1	+	2	219	c.201G>T	c.(199-201)agG>agT	p.R67S	PCCB_ENST00000466072.1_Missense_Mutation_p.R67S|PCCB_ENST00000490504.1_Missense_Mutation_p.R67S|PCCB_ENST00000483687.1_Missense_Mutation_p.R67S|PCCB_ENST00000474833.1_Intron|PCCB_ENST00000462637.1_Missense_Mutation_p.R67S|PCCB_ENST00000468777.1_Missense_Mutation_p.R67S|PCCB_ENST00000478469.1_Missense_Mutation_p.R67S|PCCB_ENST00000482086.1_Intron|PCCB_ENST00000251654.4_Missense_Mutation_p.R67S|PCCB_ENST00000469217.1_Missense_Mutation_p.R67S			P05166	PCCB_HUMAN	propionyl CoA carboxylase, beta polypeptide	67	Carboxyltransferase.		R -> S (in PA-2).		fatty acid beta-oxidation	mitochondrial matrix	ATP binding|propionyl-CoA carboxylase activity	p.R67S(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	25					Biotin(DB00121)|L-Valine(DB00161)	TAACAGCCAGGGAGAGGATCA	0.463000													49	60					7.05377e-20	1.96103e-18	0.000147903	1	0
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G	rs146714035	by1000genomes	TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369339.2_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3445								p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413000													4	112					0	0	0.00024832	0	0
CENPC	1060	broad.mit.edu	37	4	68380143	68380143	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr4:68380143G>C	ENST00000273853.6	-	8	1343	c.1093C>G	c.(1093-1095)Cat>Gat	p.H365D		NM_001812.2	NP_001803.2			centromere protein C									p.H365D(1)									TGAGGTTTATGGGAATGTTTG	0.383000													5	60					0	0	1.23904e-05	0	0
PPT1	5538	broad.mit.edu	37	1	40562846	40562846	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:40562846C>G	ENST00000433473.3	-	1	529	c.65G>C	c.(64-66)cGg>cCg	p.R22P	PPT1_ENST00000449045.2_Missense_Mutation_p.R22P	NM_000310.3	NP_000301.1	P50897	PPT1_HUMAN	palmitoyl-protein thioesterase 1	22					brain development|cofactor metabolic process|cofactor transport|DNA fragmentation involved in apoptotic nuclear change|lysosomal lumen acidification|membrane raft organization|negative regulation of cell growth|negative regulation of neuron apoptosis|neuron development|pinocytosis|positive regulation of pinocytosis|positive regulation of receptor-mediated endocytosis|protein depalmitoylation|protein transport|receptor-mediated endocytosis|regulation of synapse structure and activity|sphingolipid catabolic process|visual perception	axon|cytosol|Golgi apparatus|lysosome|membrane fraction|membrane raft|nucleus|synaptic vesicle	palmitoyl-(protein) hydrolase activity|palmitoyl-CoA hydrolase activity	p.R22P(1)		endometrium(5)|large_intestine(1)|lung(3)|ovary(1)|stomach(1)	11	Lung NSC(20;3.43e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1e-18)|Epithelial(16;3.6e-17)|all cancers(16;1.1e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CTGCAGCGCCCGAGAAGCGCA	0.632000													4	163					0	0	0.00024832	0	0
EYA4	2070	broad.mit.edu	37	6	133789885	133789885	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr6:133789885C>A	ENST00000531901.1	+	11	1215	c.986C>A	c.(985-987)cCa>cAa	p.P329Q	EYA4_ENST00000355167.3_Intron|EYA4_ENST00000367895.5_Intron|EYA4_ENST00000431403.2_Intron|EYA4_ENST00000452339.2_Intron|EYA4_ENST00000430974.2_Missense_Mutation_p.P275Q|EYA4_ENST00000525849.1_Intron|EYA4_ENST00000355286.6_Intron			O95677	EYA4_HUMAN	eyes absent homolog 4 (Drosophila)	323					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		GATCTTCACCCAGGTGAAATA	0.423000													9	111					0.000274275	0.0062264	0.000274275	1	0
OR8H2	390151	broad.mit.edu	37	11	55872561	55872561	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr11:55872561C>A	ENST00000313503.1	+	1	43	c.43C>A	c.(43-45)Ctt>Att	p.L15I		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	15					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L15I(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					TGACTTCATCCTTATGGGACT	0.433000										HNSCC(53;0.14)			76	117					9.37156e-40	2.80025e-38	0.000147903	1	0
ZDBF2	57683	broad.mit.edu	37	2	207169659	207169659	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr2:207169659C>T	ENST00000374423.3	+	5	793	c.407C>T	c.(406-408)tCa>tTa	p.S136L		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	136							nucleic acid binding|zinc ion binding	p.S136L(2)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						GTTCGACCATCAGTTATTCAA	0.448000													7	25					0	0	0.000274275	0	0
FOXP2	93986	broad.mit.edu	37	7	114304371	114304371	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr7:114304371G>T	ENST00000408937.3	+	17	2332	c.1958G>T	c.(1957-1959)gGa>gTa	p.G653V	FOXP2_ENST00000393494.2_Missense_Mutation_p.G628V|FOXP2_ENST00000403559.4_Missense_Mutation_p.G645V|FOXP2_ENST00000350908.4_Missense_Mutation_p.G628V|FOXP2_ENST00000393491.3_Missense_Mutation_p.G443V|FOXP2_ENST00000393500.3_3'UTR|FOXP2_ENST00000393498.2_Missense_Mutation_p.G607V|FOXP2_ENST00000393489.3_Missense_Mutation_p.G536V	NM_001172766.2|NM_014491.3|NM_148898.3	NP_001166237.1|NP_055306.1|NP_683696.2	O15409	FOXP2_HUMAN	forkhead box P2	628					camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	p.G653V(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						AGTAATCCTGGACTGATAAAT	0.423000													27	43					1.13719e-10	2.90722e-09	0.000227799	1	0
HYDIN	54768	broad.mit.edu	37	16	70954583	70954583	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr16:70954583C>A	ENST00000393567.2	-	46	7846	c.7696G>T	c.(7696-7698)Gta>Tta	p.V2566L		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2566								p.V2565L(1)|p.V2517L(1)|p.V196L(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AGGAAGGGTACGCCCAGGtcc	0.612000													10	22					2.17888e-05	0.000519956	0.000442599	1	0
PKN2	5586	broad.mit.edu	37	1	89273449	89273449	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:89273449A>T	ENST00000370521.3	+	15	2452	c.2093A>T	c.(2092-2094)gAa>gTa	p.E698V	PKN2_ENST00000370513.5_Missense_Mutation_p.E650V|PKN2_ENST00000544045.1_Missense_Mutation_p.E372V|PKN2_ENST00000370505.3_Missense_Mutation_p.E541V	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN	protein kinase N2	698	Protein kinase.				signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity	p.E698V(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		GCTCGAGATGAAGTAGACAGG	0.259000													71	60					0	0	0.000147903	0	0
DCLK1	9201	broad.mit.edu	37	13	36445427	36445427	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr13:36445427G>C	ENST00000255448.4	-	5	1085	c.874C>G	c.(874-876)Cgc>Ggc	p.R292G	DCLK1_ENST00000379892.4_Missense_Mutation_p.R292G|DCLK1_ENST00000360631.3_Missense_Mutation_p.R292G	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	292	Pro/Ser-rich.		R -> H (in dbSNP:rs56185003).		cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		GTGCTCCTGCGGGATGATGAA	0.507000													6	192					0	0	8.12818e-05	0	0
KCNC1	3746	broad.mit.edu	37	11	17793440	17793440	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr11:17793440T>G	ENST00000379472.3	+	2	829	c.799T>G	c.(799-801)Tgc>Ggc	p.C267G	KCNC1_ENST00000265969.6_Missense_Mutation_p.C267G	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	267						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.C267G(2)		breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						TGTCATCTTCTGCCCCAACAA	0.572000													62	103					0	0	0.000147903	0	0
USP28	57646	broad.mit.edu	37	11	113711322	113711322	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr11:113711322G>A	ENST00000003302.4	-	5	600	c.532C>T	c.(532-534)Cag>Tag	p.Q178*	USP28_ENST00000537706.1_Nonsense_Mutation_p.Q178*|USP28_ENST00000260188.5_Nonsense_Mutation_p.Q178*|USP28_ENST00000545540.1_Nonsense_Mutation_p.Q53*|USP28_ENST00000542033.1_5'UTR	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	178					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	p.Q178*(1)		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)		TATCATACCTGAATAACAGCA	0.353000													30	57					0	0	0.000491102	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103027385	103027385	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr11:103027385A>T	ENST00000375735.2	+	26	4157	c.4013A>T	c.(4012-4014)tAc>tTc	p.Y1338F	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.Y1338F	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	1338	Stem (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TTAGATGAATACCTGCAGAAT	0.368000													17	32					0	0	0.000422831	0	0
CLDN25	644672	broad.mit.edu	37	11	113651086	113651086	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr11:113651086G>T	ENST00000453129.2	+	1	618	c.569G>T	c.(568-570)gGa>gTa	p.G190V		NM_001101389.1	NP_001094859.1	C9JDP6	CLD25_HUMAN	claudin 25	190						integral to membrane|tight junction	structural molecule activity	p.G190V(1)		large_intestine(1)|lung(6)|ovary(1)|urinary_tract(2)	10						GCCTGCCTGGGAAAAGAAGAT	0.557000													30	44					5.52252e-06	0.000133842	0.000339439	1	0
CDCP1	64866	broad.mit.edu	37	3	45127529	45127529	+	Silent	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr3:45127529C>G	ENST00000296129.1	-	9	2246	c.2112G>C	c.(2110-2112)gtG>gtC	p.V704V		NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	704						extracellular region|integral to membrane|plasma membrane		p.V704V(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		TGTAGATACCCACAGCGGGGC	0.448000													7	293					0	0	8.12818e-05	0	0
LPAL2	80350	broad.mit.edu	37	6	160908401	160908401	+	RNA	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr6:160908401C>G	ENST00000335388.5	-	0	571					NR_028092.1															large_intestine(1)|lung(4)	5		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)		CTTTGGGATCCGTTGTATAAC	0.502000													4	63					0	0	1.23904e-05	0	0
RFT1	91869	broad.mit.edu	37	3	53145850	53145850	+	Silent	SNP	T	T	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr3:53145850T>C	ENST00000296292.3	-	7	832	c.771A>G	c.(769-771)acA>acG	p.T257T	RFT1_ENST00000394738.3_Silent_p.T218T	NM_052859.3	NP_443091.1	Q96AA3	RFT1_HUMAN	RFT1 homolog (S. cerevisiae)	257					carbohydrate transport|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane	lipid transporter activity	p.T257T(1)		NS(1)|breast(1)|kidney(1)|lung(5)|skin(2)|urinary_tract(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.98e-05)|Kidney(197;0.0017)|KIRC - Kidney renal clear cell carcinoma(197;0.00192)|OV - Ovarian serous cystadenocarcinoma(275;0.104)		ACTTACCTTCTGTCAAAATCT	0.423000													4	138					0	0	0.00024832	0	0
PEA15	8682	broad.mit.edu	37	1	160182980	160182980	+	Missense_Mutation	SNP	C	C	G	rs11552719		TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:160182980C>G	ENST00000368076.1	+	5	664	c.316C>G	c.(316-318)Cgt>Ggt	p.R106G	PEA15_ENST00000360472.4_Missense_Mutation_p.R85G|PEA15_ENST00000368077.1_Missense_Mutation_p.R63G|PEA15_ENST00000488858.1_3'UTR			Q15121	PEA15_HUMAN	phosphoprotein enriched in astrocytes 15	85	Microtubule-binding (Potential).				anti-apoptosis|apoptosis|carbohydrate transport|negative regulation of glucose import	cytoplasm|microtubule associated complex	protein binding	p.R85S(1)|p.R85G(1)		large_intestine(1)|lung(4)	5	all_cancers(52;3.11e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CTACAGAACCCGTGTGCTGAA	0.517000													4	152					0	0	0.00024832	0	0
GPR55	9290	broad.mit.edu	37	2	231775219	231775219	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr2:231775219G>T	ENST00000392040.1	-	2	651	c.459C>A	c.(457-459)agC>agA	p.S153R	GPR55_ENST00000392039.2_Missense_Mutation_p.S153R	NM_005683.3	NP_005674.2	Q9Y2T6	GPR55_HUMAN	G protein-coupled receptor 55	153					activation of phospholipase C activity|bone resorption|negative regulation of osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction	integral to plasma membrane	cannabinoid receptor activity	p.S153R(1)		endometrium(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145)		AGATAGGGATGCTTCCGGTCC	0.547000													32	56					1.06801e-11	2.76064e-10	0.000279167	1	0
IL1A	3552	broad.mit.edu	37	2	113539268	113539268	+	Missense_Mutation	SNP	C	C	G	rs138861340	byFrequency	TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr2:113539268C>G	ENST00000263339.3	-	4	387	c.232G>C	c.(232-234)Ggg>Cgg	p.G78R		NM_000575.3	NP_000566.3	P01583	IL1A_HUMAN	interleukin 1, alpha	78					anti-apoptosis|apoptosis|cell proliferation|cellular response to heat|cytokine-mediated signaling pathway|fever generation|immune response|negative regulation of cell proliferation|positive regulation of angiogenesis|positive regulation of cell division|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation vascular endothelial growth factor production|response to copper ion	cytosol|extracellular space	copper ion binding|cytokine activity|interleukin-1 receptor binding	p.G78R(1)		breast(2)|large_intestine(1)|lung(9)	12						AGAACCTTCCCGTTGGTTGCT	0.478000													5	201					0	0	1.23904e-05	0	0
FSIP2	401024	broad.mit.edu	37	2	186670278	186670278	+	Silent	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr2:186670278C>A	ENST00000343098.5	+	17	16512	c.16512C>A	c.(16510-16512)atC>atA	p.I5504I	FSIP2_ENST00000424728.1_Silent_p.I5415I	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2									p.I113I(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						CAGATAATATCACCCAAAGGG	0.378000													26	60					1.42536e-11	3.67752e-10	9.22233e-05	1	0
CRIPAK	285464	broad.mit.edu	37	4	1389294	1389294	+	Missense_Mutation	SNP	G	G	T	rs71299249		TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr4:1389294G>T	ENST00000324803.4	+	1	3955	c.995G>T	c.(994-996)tGc>tTc	p.C332F		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	332					ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding	p.C332F(1)		NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			GTGCCCGCCTGCTCACACACA	0.672000													118	169					2.51586e-40	7.53358e-39	0.000147903	1	0
ZNF521	25925	broad.mit.edu	37	18	22805988	22805988	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr18:22805988C>G	ENST00000361524.3	-	4	2042	c.1894G>C	c.(1894-1896)Gga>Cga	p.G632R	ZNF521_ENST00000584787.1_Missense_Mutation_p.G412R|ZNF521_ENST00000538137.2_Missense_Mutation_p.G632R	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	632					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	p.G632R(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					ATATATTCTCCAGTGGGACGT	0.473000			T	PAX5	ALL								7	558					0	0	0.000442599	0	0
GPR12	2835	broad.mit.edu	37	13	27333871	27333871	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr13:27333871G>C	ENST00000405846.3	-	2	315	c.94C>G	c.(94-96)Cgg>Ggg	p.R32G	GPR12_ENST00000381436.2_Missense_Mutation_p.R32G	NM_005288.3	NP_005279.1	P47775	GPR12_HUMAN	G protein-coupled receptor 12	32						integral to plasma membrane		p.R32G(1)		endometrium(7)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(5;5.77e-05)	Breast(139;0.198)		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)		GCAGGAACCCGGGAGGAGACA	0.532000													4	82					0	0	1.23904e-05	0	0
NLGN4X	57502	broad.mit.edu	37	X	5821843	5821843	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chrX:5821843C>A	ENST00000381095.3	-	5	1503	c.876G>T	c.(874-876)caG>caT	p.Q292H	NLGN4X_ENST00000381092.1_Missense_Mutation_p.Q292H|NLGN4X_ENST00000381093.2_Missense_Mutation_p.Q312H|NLGN4X_ENST00000538097.1_Missense_Mutation_p.Q292H|NLGN4X_ENST00000275857.6_Missense_Mutation_p.Q292H	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	292					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity	p.Q292H(1)		breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						ACTTGGCCGGCTGGTAGTTCA	0.542000													39	9					1.00001e-27	2.89526e-26	0.000437636	1	0
KIAA1958	158405	broad.mit.edu	37	9	115337393	115337393	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr9:115337393C>A	ENST00000337530.6	+	2	1329	c.1033C>A	c.(1033-1035)Cat>Aat	p.H345N	KIAA1958_ENST00000374244.3_Missense_Mutation_p.H345N|KIAA1958_ENST00000536272.1_Missense_Mutation_p.H345N	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN	KIAA1958	345								p.H345N(1)		endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						GTTCCTGTCCCATCTGCCCAG	0.567000													9	119					0.000274275	0.0062264	0.000274275	1	0
KHDRBS3	10656	broad.mit.edu	37	8	136561009	136561009	+	Silent	SNP	A	A	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr8:136561009A>C	ENST00000355849.5	+	4	747	c.337A>C	c.(337-339)Agg>Cgg	p.R113R	KHDRBS3_ENST00000520981.1_Intron	NM_006558.1	NP_006549.1	O75525	KHDR3_HUMAN	KH domain containing, RNA binding, signal transduction associated 3	113	KH.				regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	SH3 domain binding	p.R113R(1)		NS(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	26	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.247)			AGAAGAGTTGAGGAAAAGTGG	0.358000													13	23					0	0	0.000308642	0	0
TRPS1	7227	broad.mit.edu	37	8	116631852	116631852	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr8:116631852C>G	ENST00000395715.3	-	3	1050	c.473G>C	c.(472-474)gGg>gCg	p.G158A	TRPS1_ENST00000220888.5_Missense_Mutation_p.G145A|TRPS1_ENST00000520276.1_Missense_Mutation_p.G149A|TRPS1_ENST00000519674.1_Missense_Mutation_p.G145A|TRPS1_ENST00000519076.1_Missense_Mutation_p.G99A	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	145					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G158A(1)|p.G145A(1)		autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			CAGTGAGTCCCCTGAGGGGGT	0.537000									Langer-Giedion syndrome				4	96					0	0	0.00024832	0	0
FIGNL1	63979	broad.mit.edu	37	7	50513930	50513930	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr7:50513930C>A	ENST00000419119.1	-	2	2609	c.1056G>T	c.(1054-1056)caG>caT	p.Q352H	FIGNL1_ENST00000433017.1_Missense_Mutation_p.Q352H|FIGNL1_ENST00000395556.2_Missense_Mutation_p.Q352H|FIGNL1_ENST00000356889.4_Missense_Mutation_p.Q352H			Q6PIW4	FIGL1_HUMAN	fidgetin-like 1	352					ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle	cytoplasm|nucleus	ATP binding|magnesium ion binding|nucleoside-triphosphatase activity	p.Q352H(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				TTCCTCCATTCTGCTCTCCCC	0.468000													44	74					5.20006e-24	1.48403e-22	0.000106405	1	0
ACSM5	54988	broad.mit.edu	37	16	20429419	20429419	+	Silent	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr16:20429419C>G	ENST00000331849.4	+	3	390	c.243C>G	c.(241-243)gtC>gtG	p.V81V	ACSM5_ENST00000575584.1_Silent_p.V81V	NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	81					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	p.V81V(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						TCTGGTGGGTCAATGGCACAG	0.532000													12	16					0	0	0.00010058	0	0
LCK	3932	broad.mit.edu	37	1	32745271	32745271	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:32745271G>C	ENST00000333070.4	+	10	1154	c.1054G>C	c.(1054-1056)Ggg>Cgg	p.G352R	LCK_ENST00000373564.3_Splice_Site|LCK_ENST00000336890.5_Splice_Site	NM_001042771.1	NP_001036236.1	P06239	LCK_HUMAN	lymphocyte-specific protein tyrosine kinase	322	Protein kinase.				activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|T cell costimulation|T cell differentiation|T cell receptor signaling pathway|viral reproduction	cytosol|Golgi apparatus|membrane raft|pericentriolar material|plasma membrane	ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity|SH2 domain binding	p.?(2)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)	TCTGCCCACAGGGAGTCTAGT	0.562000			T	TRB@	T-ALL								5	207					0	0	1.23904e-05	0	0
ASMT	438	broad.mit.edu	37	X	1748724	1748724	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chrX:1748724G>C	ENST00000381241.3	+	5	653	c.454G>C	c.(454-456)Gag>Cag	p.E152Q	ASMT_ENST00000381229.4_Missense_Mutation_p.E152Q|ASMT_ENST00000381233.3_Missense_Mutation_p.E152Q|RP13-297E16.3_ENST00000509780.1_RNA	NM_001171038.1|NM_004043.2	NP_001164509.1|NP_004034.2	P46597	HIOM_HUMAN	acetylserotonin O-methyltransferase	152					melatonin biosynthetic process|translation	cytosol	acetylserotonin O-methyltransferase activity|S-methyltransferase activity	p.E152Q(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16		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)				GTCCGAGGGCGAGCGGCTACA	0.572000													4	270					0	0	1.23904e-05	0	0
KCND3	3752	broad.mit.edu	37	1	112524907	112524907	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:112524907T>A	ENST00000369697.1	-	1	511	c.442A>T	c.(442-444)Atg>Ttg	p.M148L	KCND3_ENST00000315987.2_Missense_Mutation_p.M148L|KCND3_ENST00000302127.4_Missense_Mutation_p.M148L			Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	148						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding	p.M148L(1)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		TTGTCGTCCATGAGCCGCTCG	0.632000													9	16					0	0	0.000274275	0	0
NEK5	341676	broad.mit.edu	37	13	52676385	52676385	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr13:52676385T>A	ENST00000355568.4	-	10	792	c.653A>T	c.(652-654)cAa>cTa	p.Q218L		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	218	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity	p.Q218L(1)|p.Q275L(1)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		AAAATGTGCTTGACAAATCTT	0.408000													85	159					0	0	0.000147903	0	0
TNN	63923	broad.mit.edu	37	1	175092647	175092647	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:175092647C>T	ENST00000239462.4	+	12	2875	c.2762C>T	c.(2761-2763)tCt>tTt	p.S921F		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	921	Fibronectin type-III 8.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		p.S921F(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CGCTACACCTCTGCTGACGGA	0.592000													65	22					0	0	0.000147903	0	0
SLC44A1	23446	broad.mit.edu	37	9	108120644	108120644	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr9:108120644G>T	ENST00000374720.3	+	7	937	c.690G>T	c.(688-690)atG>atT	p.M230I	SLC44A1_ENST00000343170.7_Missense_Mutation_p.M22I|SLC44A1_ENST00000374724.1_Missense_Mutation_p.M230I|SLC44A1_ENST00000374723.1_Missense_Mutation_p.M230I	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN	solute carrier family 44 (choline transporter), member 1	230						integral to membrane|mitochondrial outer membrane|plasma membrane	choline transmembrane transporter activity	p.M230I(1)		breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	TGATTTTGATGGTGATAATCA	0.323000													59	90					6.70656e-16	1.80355e-14	0.000147903	1	0
TSHZ2	128553	broad.mit.edu	37	20	51872086	51872086	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr20:51872086G>A	ENST00000371497.5	+	2	2976	c.2089G>A	c.(2089-2091)Gcc>Acc	p.A697T	TSHZ2_ENST00000603338.2_Missense_Mutation_p.A694T|TSHZ2_ENST00000329613.6_Missense_Mutation_p.A694T	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	697					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A697T(1)		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)			CCCACTCAGCGCCCTGCAGTC	0.612000													23	23					0	0	0.000375601	0	0
DCDC1	341019	broad.mit.edu	37	11	31086079	31086079	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr11:31086079C>G	ENST00000597505.1	-	18	2527	c.2528G>C	c.(2527-2529)gGg>gCg	p.G843A	DCDC1_ENST00000437348.1_5'UTR			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction			p.G462A(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					TGTCAGCTCCCCCGTCTCCTC	0.488000													5	204					0	0	1.23904e-05	0	0
IRS1	3667	broad.mit.edu	37	2	227663340	227663340	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr2:227663340C>G	ENST00000305123.4	-	1	1135	c.115G>C	c.(115-117)Ggg>Cgg	p.G39R		NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	39	Mediates interaction with PHIP (By similarity).|PH.				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity	p.G39R(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		GCCGGGCCCCCAGCCTCGCTG	0.632000													4	70					0	0	0.00024832	0	0
RREB1	6239	broad.mit.edu	37	6	7231086	7231086	+	Silent	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr6:7231086C>A	ENST00000379938.2	+	10	3291	c.2754C>A	c.(2752-2754)tcC>tcA	p.S918S	RREB1_ENST00000349384.6_Silent_p.S918S|RREB1_ENST00000334984.6_Silent_p.S918S|RREB1_ENST00000379933.3_Silent_p.S918S	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	918					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	p.S918S(2)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				AAAACATCTCCTTTCTGAGCC	0.567000													32	29					3.76114e-14	9.90503e-13	0.000132358	1	0
TRIML2	205860	broad.mit.edu	37	4	189012726	189012726	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr4:189012726A>T	ENST00000512729.1	-	7	1339	c.965T>A	c.(964-966)gTt>gAt	p.V322D	TRIML2_ENST00000326754.3_Missense_Mutation_p.V347D	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	322	B30.2/SPRY.						ligase activity	p.V322D(1)		central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		GTCAAGGAAAACGCCAACTGT	0.527000													68	140					0	0	0.000147903	0	0
ABCD3	5825	broad.mit.edu	37	1	94933551	94933551	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:94933551C>T	ENST00000370214.4	+	4	347	c.323C>T	c.(322-324)aCa>aTa	p.T108I	ABCD3_ENST00000315713.5_Missense_Mutation_p.T108I|ABCD3_ENST00000454898.2_Missense_Mutation_p.T132I|ABCD3_ENST00000536817.1_Missense_Mutation_p.T35I|ABCD3_ENST00000394233.2_Missense_Mutation_p.T108I	NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D (ALD), member 3	108	ABC transmembrane type-1.|Interaction with PEX19.|Targeting to peroxisomes.				peroxisomal long-chain fatty acid import|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.T108I(2)		breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		CAAAATGGGACACTAATTGAA	0.313000													18	108					0	0	0.000229342	0	0
PAX8	7849	broad.mit.edu	37	2	114002024	114002024	+	Silent	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr2:114002024G>C	ENST00000429538.3	-	4	563	c.369C>G	c.(367-369)ccC>ccG	p.P123P	AC016683.6_ENST00000553869.2_RNA|AC016683.6_ENST00000333145.5_RNA|AC016683.6_ENST00000556070.1_RNA|AC016683.6_ENST00000422956.1_RNA|PAX8_ENST00000348715.5_Silent_p.P123P|PAX8_ENST00000397647.3_Silent_p.P123P|AC016683.6_ENST00000436293.2_RNA|AC016683.6_ENST00000451179.1_RNA|PAX8_ENST00000263335.7_Silent_p.P123P|PAX8_ENST00000263334.5_Silent_p.P123P|AC016683.6_ENST00000445745.1_RNA	NM_003466.3	NP_003457.1	Q06710	PAX8_HUMAN	paired box 8	123	Paired.				branching involved in ureteric bud morphogenesis|cellular response to gonadotropin stimulus|central nervous system development|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|metanephric collecting duct development|metanephric comma-shaped body morphogenesis|metanephric distal convoluted tubule development|metanephric nephron tubule formation|metanephric S-shaped body morphogenesis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|otic vesicle development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric field specification|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of thyroid-stimulating hormone secretion|thyroid gland development|transcription, DNA-dependent	nucleoplasm	protein binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid-stimulating hormone receptor activity	p.P123P(1)	PAX8/PPARG(117)	breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1)	20						AGCTGACACTGGGCACAGTGT	0.552000			T	PPARG	follicular thyroid		Thyroid dysgenesis						7	149					0	0	0.000157383	0	0
DOPEY1	23033	broad.mit.edu	37	6	83838812	83838812	+	Silent	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr6:83838812C>G	ENST00000349129.2	+	16	2186	c.1926C>G	c.(1924-1926)tcC>tcG	p.S642S	DOPEY1_ENST00000369739.3_Silent_p.S633S|DOPEY1_ENST00000237163.5_Silent_p.S623S	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	642					protein transport			p.S642S(1)		breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		AAACAGCATCCACTGTGGGAT	0.522000													4	102					0	0	0.00024832	0	0
MEP1A	4224	broad.mit.edu	37	6	46801138	46801138	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr6:46801138G>C	ENST00000230588.4	+	11	1481	c.1472G>C	c.(1471-1473)gGg>gCg	p.G491A		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	491	MATH.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding	p.G491A(1)		NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			GTGTGCAGTGGGGAGAACGAT	0.473000													4	145					0	0	0.00024832	0	0
IKBKAP	8518	broad.mit.edu	37	9	111693348	111693348	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr9:111693348G>C	ENST00000374647.5	-	2	386	c.79C>G	c.(79-81)Cga>Gga	p.R27G	IKBKAP_ENST00000537196.1_Intron	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	27					immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity	p.R27G(1)		NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						TGTTCAGTTCGGAGAGAGAAG	0.473000													4	115					0	0	0.00024832	0	0
IGKV1D-17	28900	broad.mit.edu	37	2	90121919	90121919	+	RNA	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr2:90121919G>C	ENST00000483379.1	+	0	318																											ATCACTTGTCGGGCGAGGCAG	0.488000													7	272					0	0	0.000274275	0	0
NCOA3	8202	broad.mit.edu	37	20	46265153	46265153	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr20:46265153G>T	ENST00000372004.3	+	12	2239	c.2023G>T	c.(2023-2025)Ggg>Tgg	p.G675W	NCOA3_ENST00000371998.3_Missense_Mutation_p.G675W|NCOA3_ENST00000371997.3_Missense_Mutation_p.G685W|NCOA3_ENST00000341724.6_Missense_Mutation_p.G685W	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	675					androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	p.G675W(1)		breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						CAATATGCATGGGTCACTGTT	0.473000													9	120					0.000442599	0.00988708	0.000442599	1	0
SLC5A4	6527	broad.mit.edu	37	22	32650194	32650194	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr22:32650194G>T	ENST00000266086.4	-	2	153	c.142C>A	c.(142-144)Ctg>Atg	p.L48M	RP1-90G24.10_ENST00000434942.1_RNA	NM_014227.2	NP_055042.1	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (glucose activated ion channel), member 4	48					carbohydrate transport|sodium ion transport	integral to membrane	symporter activity	p.L48M(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TTGGTCTTCAGCATCGCCTGA	0.567000													33	15					1.90571e-15	5.09549e-14	0.000132358	1	0
MPZL3	196264	broad.mit.edu	37	11	118106197	118106197	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr11:118106197C>G	ENST00000278949.4	-	4	614	c.559G>C	c.(559-561)Ggg>Cgg	p.G187R	MPZL3_ENST00000525386.1_Intron|MPZL3_ENST00000527472.1_Missense_Mutation_p.G175R			Q6UWV2	MPZL3_HUMAN	myelin protein zero-like 3	187					cell adhesion	integral to membrane		p.G187R(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(2)|stomach(2)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.046)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		TTCTTCAGCCCAGCAGCCTTC	0.552000													5	232					0	0	3.59834e-05	0	0
SSX2IP	117178	broad.mit.edu	37	1	85124125	85124125	+	Silent	SNP	G	G	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:85124125G>A	ENST00000437941.2	-	8	1225	c.873C>T	c.(871-873)gcC>gcT	p.A291A	SSX2IP_ENST00000342203.3_Silent_p.A318A|SSX2IP_ENST00000370612.4_Silent_p.A318A|SSX2IP_ENST00000605755.1_Silent_p.A291A|SSX2IP_ENST00000603677.1_Intron	NM_001166295.1|NM_001166417.1	NP_001159767.1|NP_001159889.1	Q9Y2D8	ADIP_HUMAN	synovial sarcoma, X breakpoint 2 interacting protein	318					cell adhesion	nucleus|protein complex		p.A318A(1)		endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|urinary_tract(1)	19				all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TTAGTTCCCCGGCATCTTCTT	0.443000													22	14					0	0	0.000229342	0	0
UVRAG	7405	broad.mit.edu	37	11	75727941	75727941	+	Silent	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr11:75727941C>G	ENST00000356136.3	+	12	1384	c.1143C>G	c.(1141-1143)ccC>ccG	p.P381P	UVRAG_ENST00000531818.1_Silent_p.P9P|UVRAG_ENST00000528420.1_Silent_p.P280P|UVRAG_ENST00000539288.1_Silent_p.P9P|UVRAG_ENST00000532130.1_Silent_p.P9P|UVRAG_ENST00000533454.1_Silent_p.P9P	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	381					DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding	p.P381P(1)		central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						TACAAGTGCCCCTCAGATATC	0.383000													4	140					0	0	0.00024832	0	0
KIAA1109	84162	broad.mit.edu	37	4	123264572	123264572	+	Silent	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr4:123264572G>T	ENST00000264501.4	+	73	12733	c.12360G>T	c.(12358-12360)tcG>tcT	p.S4120S	KIAA1109_ENST00000388738.3_Silent_p.S4120S			Q2LD37	K1109_HUMAN	KIAA1109	4120	Ser-rich.				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		p.S4120S(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TAGGTTCATCGGGATTAGGCA	0.433000													5	86					8.12818e-05	0.00190393	8.12818e-05	1	0
SIMC1	375484	broad.mit.edu	37	5	175717588	175717588	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr5:175717588G>C	ENST00000443967.1	+	4	1411	c.1004G>C	c.(1003-1005)gGg>gCg	p.G335A	SIMC1_ENST00000341199.6_Intron|SIMC1_ENST00000430704.2_Intron|SIMC1_ENST00000429602.2_Missense_Mutation_p.G354A					SUMO-interacting motifs containing 1									p.G335A(1)									CACTCATCAGGGGACGTGACA	0.522000													5	125					0	0	1.23904e-05	0	0
ERMN	57471	broad.mit.edu	37	2	158182141	158182141	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr2:158182141G>C	ENST00000410096.1	-	1	305	c.14C>G	c.(13-15)cCg>cGg	p.P5R	ERMN_ENST00000420719.2_Missense_Mutation_p.P5R|ERMN_ENST00000397283.2_Missense_Mutation_p.P18R|ERMN_ENST00000409216.1_Missense_Mutation_p.P5R|ERMN_ENST00000409925.1_Missense_Mutation_p.P5R	NM_020711.1	NP_065762.1	Q8TAM6	ERMIN_HUMAN	ermin, ERM-like protein	5						cytoplasm|cytoskeleton		p.P18R(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12						AAATGTAGCCGGAACATCTGT	0.448000													4	156					0	0	1.23904e-05	0	0
KCNG2	26251	broad.mit.edu	37	18	77659266	77659266	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr18:77659266G>A	ENST00000316249.3	+	2	851	c.851G>A	c.(850-852)gGg>gAg	p.G284E	KCNG2_ENST00000590307.1_3'UTR	NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G, member 2	284					energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity	p.G284E(1)		breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		GAGCGCGCGGGGCTGGTGCTG	0.716000													5	5					0	0	8.12818e-05	0	0
CDH13	1012	broad.mit.edu	37	16	83781757	83781757	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr16:83781757C>G	ENST00000566620.1	+	11	1873	c.1583C>G	c.(1582-1584)cCc>cGc	p.P528R	CDH13_ENST00000268613.10_Missense_Mutation_p.P575R|RP11-298D21.1_ENST00000570056.1_RNA|RP11-298D21.1_ENST00000563981.1_RNA|CDH13_ENST00000428848.3_Missense_Mutation_p.P489R|RP11-298D21.1_ENST00000569165.1_RNA	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	528	Cadherin 4.				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding	p.P528R(1)		large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		AATATTAACCCCATCAATGGG	0.463000													5	213					0	0	3.59834e-05	0	0
FLG2	388698	broad.mit.edu	37	1	152323752	152323752	+	Silent	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:152323752G>C	ENST00000388718.5	-	3	6582	c.6510C>G	c.(6508-6510)tcC>tcG	p.S2170S	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2170							calcium ion binding|structural molecule activity	p.S2170S(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAGTTGTCCTGGAACCTGTCT	0.512000													7	292					0	0	8.12818e-05	0	0
MPL	4352	broad.mit.edu	37	1	43812251	43812251	+	Silent	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:43812251G>C	ENST00000372470.3	+	7	1158	c.1116G>C	c.(1114-1116)ccG>ccC	p.P372P	MPL_ENST00000413998.2_Silent_p.P372P	NM_005373.2	NP_005364.1	P40238	TPOR_HUMAN	myeloproliferative leukemia virus oncogene	372					cell proliferation|platelet activation	integral to plasma membrane	cytokine receptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	567	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CCACAGCCCCGGGTACTGTTC	0.512000			Mis		MPD	MPD	congenital amegakaryocytic thrombocytopenia						5	174					0	0	1.23904e-05	0	0
DOCK10	55619	broad.mit.edu	37	2	225659777	225659777	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr2:225659777G>T	ENST00000409592.3	-	45	5068	c.4955C>A	c.(4954-4956)aCt>aAt	p.T1652N	DOCK10_ENST00000258390.7_Missense_Mutation_p.T1658N			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1658	DHR-2.						GTP binding	p.T196N(1)|p.T1656N(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		TATACGCTTAGTCAGGTCCTT	0.468000													65	102					8.07507e-42	2.42843e-40	0.000147903	1	0
DHX37	57647	broad.mit.edu	37	12	125444911	125444911	+	Missense_Mutation	SNP	G	G	C	rs114212811	by1000genomes	TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr12:125444911G>C	ENST00000308736.2	-	16	2202	c.2104C>G	c.(2104-2106)Cgg>Ggg	p.R702G	DHX37_ENST00000544745.1_Missense_Mutation_p.R489G	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	702	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		ACAGGCCTCCGGGTGATTTCT	0.527000													5	134					0	0	0.000157383	0	0
DPYS	1807	broad.mit.edu	37	8	105441832	105441832	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr8:105441832C>G	ENST00000351513.2	-	5	1023	c.891G>C	c.(889-891)atG>atC	p.M297I		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	297					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding	p.M297I(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			AAGGTGGACCCATGACATGGT	0.502000													4	70					0	0	0.00024832	0	0
PRRX1	5396	broad.mit.edu	37	1	170705230	170705230	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:170705230C>G	ENST00000239461.6	+	4	954	c.641C>G	c.(640-642)cCt>cGt	p.P214R	PRRX1_ENST00000367760.3_3'UTR|PRRX1_ENST00000476867.2_3'UTR	NM_022716.2	NP_073207.1	P54821	PRRX1_HUMAN	paired related homeobox 1	214						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.P214R(1)		large_intestine(2)|ovary(1)	3	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AACAATAGCCCTGCACAGGGC	0.493000													6	266					0	0	3.59834e-05	0	0
TIE1	7075	broad.mit.edu	37	1	43778157	43778157	+	Silent	SNP	T	T	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:43778157T>A	ENST00000372476.3	+	12	1891	c.1812T>A	c.(1810-1812)acT>acA	p.T604T	TIE1_ENST00000433781.2_Silent_p.T249T	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	604	Fibronectin type-III 2.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.T604T(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				AGGCCCGCACTGCCCTCCTGA	0.716000													9	19					0	0	0.000274275	0	0
PRDM15	63977	broad.mit.edu	37	21	43222983	43222983	+	Silent	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr21:43222983C>G	ENST00000422911.1	-	24	3104	c.3003G>C	c.(3001-3003)gcG>gcC	p.A1001A	PRDM15_ENST00000269844.3_Silent_p.A1310A|PRDM15_ENST00000470586.1_5'UTR|PRDM15_ENST00000447207.2_Silent_p.A944A|PRDM15_ENST00000398548.1_Silent_p.A981A|PRDM15_ENST00000538201.1_Silent_p.A964A			P57071	PRD15_HUMAN	PR domain containing 15	1310					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A1310A(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						CCGGAGCACCCGCCTCCTCTT	0.577000													4	157					0	0	8.12818e-05	0	0
PGK2	5232	broad.mit.edu	37	6	49753693	49753693	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr6:49753693A>G	ENST00000304801.3	-	1	1360	c.1208T>C	c.(1207-1209)cTg>cCg	p.L403P		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	403					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity	p.L403P(1)		autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					TTTACCTTCCAGAAGCTCTAG	0.473000													61	72					0	0	0.000147903	0	0
MYLK	4638	broad.mit.edu	37	3	123452795	123452795	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr3:123452795C>A	ENST00000360772.3	-	11	1426	c.1048G>T	c.(1048-1050)Gca>Tca	p.A350S	MYLK_ENST00000360304.3_Missense_Mutation_p.A350S|MYLK_ENST00000475616.1_Missense_Mutation_p.A350S|MYLK_ENST00000346322.5_Missense_Mutation_p.A350S|MYLK_ENST00000359169.1_Missense_Mutation_p.A350S			Q15746	MYLK_HUMAN	myosin light chain kinase	350					aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	p.A350T(1)|p.A350P(1)|p.A350S(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TGAACTCTTGCGGCCTGCAGG	0.632000													39	76					7.53189e-24	2.14513e-22	0.000319135	1	0
MED15	51586	broad.mit.edu	37	22	20921087	20921087	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr22:20921087C>A	ENST00000263205.7	+	7	1093	c.1024C>A	c.(1024-1026)Caa>Aaa	p.Q342K	MED15_ENST00000541476.1_Missense_Mutation_p.Q316K|MED15_ENST00000292733.7_Missense_Mutation_p.Q342K|MED15_ENST00000406969.1_Missense_Mutation_p.Q316K|MED15_ENST00000425759.2_Missense_Mutation_p.Q231K|MED15_ENST00000542773.1_Missense_Mutation_p.Q147K|MED15_ENST00000478831.1_3'UTR|MED15_ENST00000382974.2_Missense_Mutation_p.Q271K	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	342	Pro-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding	p.Q342K(2)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			GTTGTATACCCAACCACCACT	0.537000													6	52					8.12818e-05	0.00190393	8.12818e-05	1	0
IL24	11009	broad.mit.edu	37	1	207074963	207074963	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:207074963A>C	ENST00000294984.2	+	5	702	c.428A>C	c.(427-429)aAc>aCc	p.N143T	IL24_ENST00000367093.3_Intron|IL24_ENST00000491169.1_3'UTR|IL24_ENST00000391929.3_Missense_Mutation_p.N144T	NM_001185156.1|NM_006850.3	NP_001172085.1|NP_006841.1	Q13007	IL24_HUMAN	interleukin 24	143					apoptosis	extracellular space	cytokine activity	p.N143T(1)		endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12	Breast(84;0.201)					CTGGCCAACAACTTTGTTCTC	0.463000													4	50					0	0	0.00024832	0	0
FYB	2533	broad.mit.edu	37	5	39202308	39202308	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr5:39202308C>G	ENST00000351578.6	-	2	945	c.755G>C	c.(754-756)gGg>gCg	p.G252A	FYB_ENST00000505428.1_Missense_Mutation_p.G252A|FYB_ENST00000512982.1_Missense_Mutation_p.G252A|FYB_ENST00000515010.1_Missense_Mutation_p.G252A|FYB_ENST00000540520.1_Missense_Mutation_p.G262A	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	252					cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding	p.G252A(3)|p.G262A(1)		endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			TGAAATCTCCCCTGCATGGTC	0.498000													6	347					0	0	8.12818e-05	0	0
SPRY3	10251	broad.mit.edu	37	X	155003545	155003545	+	Silent	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chrX:155003545G>C	ENST00000302805.2	+	2	443	c.12G>C	c.(10-12)gcG>gcC	p.A4A		NM_005840.1	NP_005831.1	O43610	SPY3_HUMAN	sprouty homolog 3 (Drosophila)	4					multicellular organismal development|regulation of signal transduction	cytoplasm|membrane		p.A4A(1)				all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TGGATGCTGCGGTGACAGATG	0.458000													4	225					0	0	0.00024832	0	0
KIAA2022	340533	broad.mit.edu	37	X	73960674	73960674	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chrX:73960674C>A	ENST00000373468.1	-	3	4369	c.3718G>T	c.(3718-3720)Ggc>Tgc	p.G1240C	KIAA2022_ENST00000055682.5_Missense_Mutation_p.G1240C			Q5QGS0	K2022_HUMAN	KIAA2022	1240					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	p.G1240F(1)		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						CGGCCAATGCCAATTTGCATT	0.493000													23	8					2.21704e-12	5.77337e-11	0.000375601	1	0
EIF2B2	8892	broad.mit.edu	37	14	75475847	75475847	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr14:75475847C>G	ENST00000266126.5	+	8	1092	c.1012C>G	c.(1012-1014)Cgc>Ggc	p.R338G		NM_014239.3	NP_055054.1	P49770	EI2BB_HUMAN	eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa	338					cellular response to stimulus|myelination|oligodendrocyte development|ovarian follicle development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	ATP binding|GTP binding|protein binding|translation initiation factor activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(234;0.00661)		CTACATCTACCGCCTGATGAG	0.483000													5	142					0	0	1.23904e-05	0	0
HIVEP3	59269	broad.mit.edu	37	1	41979091	41979091	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:41979091T>C	ENST00000372584.1	-	7	6815	c.5801A>G	c.(5800-5802)cAg>cGg	p.Q1934R	HIVEP3_ENST00000460604.1_5'UTR|HIVEP3_ENST00000429157.2_Missense_Mutation_p.Q1934R|HIVEP3_ENST00000372583.1_Missense_Mutation_p.Q1934R|HIVEP3_ENST00000247584.5_Missense_Mutation_p.Q1934R	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1934	Ser-rich.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	p.Q1934R(1)		NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CGGCATGCTCTGGCTGGACAT	0.662000													11	7					0	0	6.40141e-05	0	0
FZD10	11211	broad.mit.edu	37	12	130647907	130647907	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr12:130647907G>T	ENST00000539839.1	+	1	904	c.322G>T	c.(322-324)Gaa>Taa	p.E108*	FZD10_ENST00000229030.4_Missense_Mutation_p.K140N	NM_007197.3	NP_009128.1	Q9ULW2	FZD10_HUMAN	frizzled family receptor 10	0	FZ.				brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	p.K140N(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		TCCCCAACAAGAACGACCCCA	0.662000													34	71					8.01111e-26	2.30036e-24	0.000509022	1	0
ITPR2	3709	broad.mit.edu	37	12	26568412	26568412	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr12:26568412C>G	ENST00000381340.3	-	51	7546	c.7130G>C	c.(7129-7131)aGg>aCg	p.R2377T	RP11-513G19.1_ENST00000535324.1_RNA	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2377					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	p.R2377T(1)	ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					AGTCTCTTCCCTGTACACCAA	0.368000													4	125					0	0	1.23904e-05	0	0
HGF	3082	broad.mit.edu	37	7	81372699	81372699	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr7:81372699G>C	ENST00000222390.5	-	7	1061	c.835C>G	c.(835-837)Cgc>Ggc	p.R279G	HGF_ENST00000457544.2_Missense_Mutation_p.R274G|HGF_ENST00000453411.1_Missense_Mutation_p.R274G|HGF_ENST00000444829.2_Missense_Mutation_p.R279G	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	279	Kringle 2.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity	p.R279G(1)		NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						TACTCCCAGCGGGTGTGAGGG	0.473000													34	41					0	0	0.000109025	0	0
MAGT1	84061	broad.mit.edu	37	X	77150820	77150820	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chrX:77150820G>C	ENST00000358075.6	-	1	270	c.184C>G	c.(184-186)Caa>Gaa	p.Q62E	MAGT1_ENST00000373336.3_Missense_Mutation_p.Q30E	NM_032121.5	NP_115497.4	Q9H0U3	MAGT1_HUMAN	magnesium transporter 1	30					protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex		p.Q30E(1)		cervix(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	17						TTCTTTCTTTGGGCAGAGGCT	0.582000													3	28					0	0	6.4e-05	0	0
NPAP1	23742	broad.mit.edu	37	15	24921131	24921131	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr15:24921131C>A	ENST00000329468.2	+	1	591	c.117C>A	c.(115-117)caC>caA	p.H39Q		NM_018958.2	NP_061831.2			nuclear pore associated protein 1									p.H39Q(1)									GTCGGGCTCACTCTGTACCCA	0.736000													12	19					1.61879e-10	4.13087e-09	0.00010058	1	0
OR11A1	26531	broad.mit.edu	37	6	29395095	29395095	+	Silent	SNP	T	T	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr6:29395095T>A	ENST00000377149.1	-	5	796	c.324A>T	c.(322-324)ctA>ctT	p.L108L	OR11A1_ENST00000377148.1_Silent_p.L108L|OR5V1_ENST00000377154.1_Intron|OR11A1_ENST00000377147.2_Silent_p.L108L			Q9GZK7	O11A1_HUMAN	olfactory receptor, family 11, subfamily A, member 1	108					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L108L(1)		cervix(1)|large_intestine(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	19						CAGCTGTGGCTAGAGAGCCGA	0.537000													25	26					0	0	0.00047179	0	0
ASTN2	23245	broad.mit.edu	37	9	119770371	119770371	+	Splice_Site	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr9:119770371C>A	ENST00000313400.4	-	7	1691	c.1591_splice	c.e7+1	p.G531_splice	ASTN2_ENST00000361209.2_Splice_Site_p.G480_splice|ASTN2_ENST00000373996.3_Splice_Site_p.G531_splice|ASTN2_ENST00000361477.3_5'UTR			O75129	ASTN2_HUMAN	astrotactin 2	531	EGF-like 1.					integral to membrane		p.G480R(1)|p.G480*(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CATGGCTCACCGGTTTCTGGG	0.557000													16	31					1.67942e-08	4.21633e-07	7.07596e-05	1	0
IL12RB2	3595	broad.mit.edu	37	1	67852300	67852300	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:67852300T>A	ENST00000262345.1	+	14	2534	c.1894T>A	c.(1894-1896)Tgc>Agc	p.C632S	IL12RB2_ENST00000541374.1_Missense_Mutation_p.C632S|IL12RB2_ENST00000465396.1_3'UTR|IL12RB2_ENST00000371000.1_Missense_Mutation_p.C632S|IL12RB2_ENST00000544434.1_Missense_Mutation_p.C546S	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	632					positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity	p.C632S(1)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						ACCAAGCATTTGCATTGCTAT	0.403000													56	36					0	0	0.000147903	0	0
MEX3A	92312	broad.mit.edu	37	1	156047009	156047009	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:156047009C>G	ENST00000532414.2	-	2	918	c.919G>C	c.(919-921)Ggg>Cgg	p.G307R	MEX3A_ENST00000442784.1_5'UTR	NM_001093725.1	NP_001087194.1	A1L020	MEX3A_HUMAN	mex-3 RNA binding family member A	307						cytoplasmic mRNA processing body|nucleus	RNA binding|zinc ion binding	p.G426R(1)|p.G307R(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	Hepatocellular(266;0.158)|all_neural(408;0.195)					TCGGGGCTCCCCGCCAGGAAG	0.657000													4	106					0	0	1.23904e-05	0	0
GOLGA3	2802	broad.mit.edu	37	12	133358952	133358952	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr12:133358952C>G	ENST00000204726.3	-	17	3953	c.3395G>C	c.(3394-3396)cGg>cCg	p.R1132P	GOLGA3_ENST00000456883.2_Missense_Mutation_p.R1132P|GOLGA3_ENST00000450791.2_Missense_Mutation_p.R1132P	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN	golgin A3	1132					intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity	p.R1132P(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GTTGTGTTCCCGCAGAGCTGC	0.502000													5	216					0	0	3.59834e-05	0	0
KIF5C	3800	broad.mit.edu	37	2	149799276	149799276	+	Splice_Site	SNP	T	T	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr2:149799276T>A	ENST00000435030.1	+	7	957		c.e7+2		KIF5C_ENST00000414838.2_Splice_Site			O60282	KIF5C_HUMAN	kinesin family member 5C						microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity	p.?(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		CTGTGACAAGTAAGCATGGTG	0.527000													8	5					0	0	0.000157383	0	0
DCC	1630	broad.mit.edu	37	18	50734144	50734144	+	Silent	SNP	G	G	C	rs143737066	byFrequency	TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr18:50734144G>C	ENST00000442544.2	+	11	2434	c.1818G>C	c.(1816-1818)ccG>ccC	p.P606P	DCC_ENST00000581580.1_Silent_p.P261P|DCC_ENST00000412726.1_Silent_p.P454P	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	606	Fibronectin type-III 2.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		p.P606P(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GCTATGGTCCGGGCGTCTCTA	0.353000													5	158					0	0	8.12818e-05	0	0
SSTR4	6754	broad.mit.edu	37	20	23016973	23016973	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr20:23016973G>A	ENST00000255008.3	+	1	917	c.853G>A	c.(853-855)Gtg>Atg	p.V285M	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	285					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	p.V285M(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GAACCTCTTCGTGACCAGCCT	0.552000													51	87					0	0	0.000147903	0	0
DHX38	9785	broad.mit.edu	37	16	72142724	72142724	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr16:72142724G>T	ENST00000268482.3	+	24	3790	c.3281G>T	c.(3280-3282)cGc>cTc	p.R1094L	DHX38_ENST00000536867.1_Missense_Mutation_p.R406L	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	1094					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	p.R1094L(1)		endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				GTGAACATCCGCACAGGGATG	0.547000													10	24					1.58986e-06	3.88683e-05	3.86212e-05	1	0
NDN	4692	broad.mit.edu	37	15	23931903	23931903	+	Silent	SNP	G	G	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr15:23931903G>A	ENST00000331837.4	-	1	547	c.462C>T	c.(460-462)caC>caT	p.H154H		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	154	MAGE.				negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding	p.H154H(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		TTAGCCTCAGGTGCAGCCCGA	0.617000									Prader-Willi syndrome				27	30					0	0	9.22233e-05	0	0
SLC40A1	30061	broad.mit.edu	37	2	190439933	190439933	+	Silent	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr2:190439933C>G	ENST00000261024.2	-	3	651	c.225G>C	c.(223-225)ctG>ctC	p.L75L	SLC40A1_ENST00000418714.1_5'UTR	NM_014585.5	NP_055400.1	Q9NP59	S40A1_HUMAN	solute carrier family 40 (iron-regulated transporter), member 1	75					anatomical structure morphogenesis|cellular iron ion homeostasis	cytoplasm|integral to plasma membrane	iron ion transmembrane transporter activity|protein binding	p.L75L(1)		endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)			TGATGGCTCCCAGGACCAGAA	0.498000													6	273					0	0	3.59834e-05	0	0
SCN9A	6335	broad.mit.edu	37	2	167056049	167056049	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr2:167056049C>G	ENST00000303354.6	-	27	5443	c.5103G>C	c.(5101-5103)tgG>tgC	p.W1701C	SCN9A_ENST00000375387.4_Missense_Mutation_p.W1701C|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409435.1_Missense_Mutation_p.W1700C|SCN9A_ENST00000409672.1_Missense_Mutation_p.W1689C			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1700						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.W1689C(1)		NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	GCAATCCATCCCAGCCAGCAG	0.418000													6	292					0	0	3.59834e-05	0	0
MYO1A	4640	broad.mit.edu	37	12	57440845	57440845	+	Splice_Site	SNP	A	A	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr12:57440845A>T	ENST00000442789.2	-	7	764	c.477_splice	c.e7+1	p.F159_splice	MYO1A_ENST00000300119.3_Splice_Site_p.F159_splice|MYO1A_ENST00000544473.1_Intron	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	159	Myosin head-like.				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	p.F159L(1)		breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						ATTTACTCACAAATCGGGAGG	0.522000													15	29					0	0	5.01169e-05	0	0
LGALS9	3965	broad.mit.edu	37	17	25969281	25969281	+	Silent	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr17:25969281C>A	ENST00000395473.2	+	4	1819	c.351C>A	c.(349-351)atC>atA	p.I117I	LGALS9_ENST00000313648.6_Silent_p.I117I|LGALS9_ENST00000413914.2_Silent_p.I60I|LGALS9_ENST00000310394.5_Silent_p.I117I|LGALS9_ENST00000302228.5_Silent_p.I117I	NM_009587.2	NP_033665.1	O00182	LEG9_HUMAN	lectin, galactoside-binding, soluble, 9	117	Galectin 1.				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	galactose binding|signal transducer activity	p.I117I(1)		endometrium(3)|large_intestine(2)|lung(12)|skin(1)	18	Lung NSC(42;0.0103)		BRCA - Breast invasive adenocarcinoma(3;0.0141)	UCEC - Uterine corpus endometrioid carcinoma (53;0.155)		TGAACGGGATCCTCTTCGTGC	0.597000													17	10					4.43304e-23	1.25744e-21	0.000147802	1	0
SYT14	255928	broad.mit.edu	37	1	210273728	210273728	+	Silent	SNP	G	G	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:210273728G>A	ENST00000537238.1	+	7	1363	c.972G>A	c.(970-972)aaG>aaA	p.K324K	SYT14_ENST00000534859.1_Silent_p.K362K|SYT14_ENST00000271745.7_Intron|SYT14_ENST00000367015.1_Silent_p.K324K|SYT14_ENST00000367019.1_Silent_p.K362K|SYT14_ENST00000422431.1_Silent_p.K407K|SYT14_ENST00000472886.1_Silent_p.K362K|SYT14_ENST00000399639.2_Silent_p.K362K	NM_001256006.1|NM_153262.3	NP_001242935.1|NP_694994.2	Q8NB59	SYT14_HUMAN	synaptotagmin XIV	362	C2 1.					integral to membrane		p.K362K(1)		endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37				OV - Ovarian serous cystadenocarcinoma(81;0.085)		TGGGGGAAAAGATTTTTTATT	0.333000													80	21					0	0	0.000147903	0	0
TMTC1	83857	broad.mit.edu	37	12	29911698	29911698	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr12:29911698C>T	ENST00000256062.5	-	3	642	c.169G>A	c.(169-171)Gtt>Att	p.V57I	TMTC1_ENST00000539277.1_Missense_Mutation_p.V165I|TMTC1_ENST00000381224.2_Missense_Mutation_p.V57I|TMTC1_ENST00000551659.1_Missense_Mutation_p.V165I|TMTC1_ENST00000552618.1_Missense_Mutation_p.V165I	NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	165						integral to membrane	binding	p.V57I(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					GCTCTGCCAACGATCCCAGCC	0.393000													17	28					0	0	0.000175454	0	0
C4orf21	55345	broad.mit.edu	37	4	113479457	113479457	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr4:113479457C>A	ENST00000505019.1	-	20	5094	c.4969G>T	c.(4969-4971)Gga>Tga	p.G1657*		NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN	chromosome 4 open reading frame 21	0								p.G1657*(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		TTTCCTGCTCCAAACACACCT	0.343000													6	64					2.0095e-06	4.90416e-05	8.12818e-05	1	0
WDR64	128025	broad.mit.edu	37	1	241946679	241946679	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:241946679G>C	ENST00000366552.2	+	22	2878	c.2671G>C	c.(2671-2673)Gta>Cta	p.V891L	WDR64_ENST00000437684.2_Missense_Mutation_p.V724L	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	891								p.V891L(1)|p.V444L(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			CGATGGCTCAGTAAGGTAGGC	0.393000													3	32					0	0	6.4e-05	0	0
MAP3K11	4296	broad.mit.edu	37	11	65380732	65380732	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr11:65380732G>C	ENST00000309100.3	-	1	981	c.496C>G	c.(496-498)Cgg>Ggg	p.R166G		NM_002419.3	NP_002410.1	Q16584	M3K11_HUMAN	mitogen-activated protein kinase kinase kinase 11	166	Protein kinase.				activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation	centrosome|microtubule	ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity	p.R166G(1)		breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1)	24						GCGAAGAGCCGGGCCTCCTGG	0.647000													3	59					0	0	6.4e-05	0	0
FRY	10129	broad.mit.edu	37	13	32721512	32721512	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr13:32721512G>T	ENST00000380250.3	+	12	1769	c.1273G>T	c.(1273-1275)Gct>Tct	p.A425S		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	425					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		p.A425S(1)		NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		AAGCAACACAGCTACTCAGAG	0.398000													10	21					7.48243e-07	1.84215e-05	0.000442599	1	0
CARNS1	57571	broad.mit.edu	37	11	67191717	67191717	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr11:67191717A>T	ENST00000445895.2	+	9	2612	c.2498A>T	c.(2497-2499)gAc>gTc	p.D833V	CARNS1_ENST00000531040.1_Missense_Mutation_p.D807V|CARNS1_ENST00000423745.2_Missense_Mutation_p.D710V|CARNS1_ENST00000307823.3_Missense_Mutation_p.D710V			A5YM72	CRNS1_HUMAN	carnosine synthase 1	710					carnosine biosynthetic process		ATP binding|carnosine synthase activity|metal ion binding	p.D833V(1)|p.D268V(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)	11						TATGGTGTTGACCTGCTGCTG	0.632000													18	21					0	0	0.000229342	0	0
MGRN1	23295	broad.mit.edu	37	16	4700385	4700385	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr16:4700385C>G	ENST00000399577.5	+	2	201	c.108C>G	c.(106-108)caC>caG	p.H36Q	MGRN1_ENST00000588994.1_Missense_Mutation_p.H36Q|MGRN1_ENST00000415496.1_Missense_Mutation_p.H36Q|MGRN1_ENST00000586183.1_Missense_Mutation_p.H36Q|MGRN1_ENST00000262370.7_Missense_Mutation_p.H36Q	NM_001142290.2	NP_001135762.1	O60291	MGRN1_HUMAN	mahogunin ring finger 1, E3 ubiquitin protein ligase	36					endosome to lysosome transport|negative regulation of cAMP-mediated signaling|negative regulation of G-protein coupled receptor protein signaling pathway|protein monoubiquitination	cytosol|early endosome|nucleus|plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.H36Q(2)		endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						TTGCTTCGCACTTTTTCATGG	0.458000													44	21					0	0	0.000147903	0	0
SCAMP2	10066	broad.mit.edu	37	15	75137815	75137815	+	Splice_Site	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr15:75137815C>G	ENST00000268099.9	-	8	963	c.855_splice	c.e8+1	p.R285_splice		NM_005697.3	NP_005688.2	O15127	SCAM2_HUMAN	secretory carrier membrane protein 2	285					post-Golgi vesicle-mediated transport|protein transport	integral to membrane|nucleus|recycling endosome membrane|trans-Golgi network membrane	protein binding	p.R285P(1)		kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	9						ACCACTCACCCGCTGCAGGAG	0.562000													4	69					0	0	1.23904e-05	0	0
TAX1BP1	8887	broad.mit.edu	37	7	27827104	27827104	+	Nonsense_Mutation	SNP	T	T	A	rs141015886		TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr7:27827104T>A	ENST00000396319.2	+	8	1008	c.920T>A	c.(919-921)tTa>tAa	p.L307*	TAX1BP1_ENST00000409980.1_Nonsense_Mutation_p.L307*|TAX1BP1_ENST00000265393.6_Nonsense_Mutation_p.L307*|TAX1BP1_ENST00000433216.2_Nonsense_Mutation_p.L150*|TAX1BP1_ENST00000543117.1_Nonsense_Mutation_p.L307*	NM_006024.6	NP_006015.4	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I) binding protein 1	307			L -> I (in dbSNP:rs11540483).		anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production	cytosol	identical protein binding|kinase binding|zinc ion binding	p.L307*(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31			GBM - Glioblastoma multiforme(3;0.0823)			TTAAAAAATTTAGATGGGAAC	0.348000													57	70					0	0	0.000147903	0	0
FLG2	388698	broad.mit.edu	37	1	152329769	152329769	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:152329769G>A	ENST00000388718.5	-	3	565	c.493C>T	c.(493-495)Caa>Taa	p.Q165*	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	165	Ser-rich.						calcium ion binding|structural molecule activity	p.Q165*(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AAATTACCTTGTCTTCCTAGC	0.493000													204	54					0	0	0.000147903	0	0
ASMTL	8623	broad.mit.edu	37	X	1546691	1546691	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chrX:1546691C>G	ENST00000534940.1	-	7	884	c.659G>C	c.(658-660)cGg>cCg	p.R220P	ASMTL_ENST00000463763.1_5'UTR|ASMTL_ENST00000381317.3_Missense_Mutation_p.R278P|ASMTL_ENST00000381333.4_Missense_Mutation_p.R262P|ASMTL_ENST00000416733.2_Missense_Mutation_p.R202P	NM_001173473.1	NP_001166944.1	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like	278	MAF-like.				melatonin biosynthetic process	cytoplasm	acetylserotonin O-methyltransferase activity	p.R278P(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(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)				CAGGGTCTCCCGAGTCCTGTG	0.637000													7	134					0	0	8.12818e-05	0	0
GRM7	2917	broad.mit.edu	37	3	7620495	7620495	+	Silent	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr3:7620495G>T	ENST00000486284.1	+	8	2176	c.1902G>T	c.(1900-1902)acG>acT	p.T634T	GRM7_ENST00000402647.2_Silent_p.T634T|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000403881.1_Silent_p.T634T|GRM7_ENST00000389336.4_Silent_p.T634T|GRM7_ENST00000357716.4_Silent_p.T634T	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	634					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding	p.T634T(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	TTCTTTTGACGGGCATCTTTC	0.498000													8	235					0.000157383	0.00364379	0.000157383	1	0
POLR1A	25885	broad.mit.edu	37	2	86266540	86266540	+	Silent	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr2:86266540G>C	ENST00000263857.6	-	26	4164	c.3786C>G	c.(3784-3786)ccC>ccG	p.P1262P	POLR1A_ENST00000409681.1_Silent_p.P1262P			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	1262					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding	p.P1262P(1)		NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						CGCTCATCATGGGTGTCTTGA	0.532000													6	281					0	0	3.59834e-05	0	0
POSTN	10631	broad.mit.edu	37	13	38153365	38153365	+	Splice_Site	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr13:38153365C>G	ENST00000379747.4	-	13	1909		c.e13+1		POSTN_ENST00000541179.1_Splice_Site|POSTN_ENST00000379749.4_Splice_Site|POSTN_ENST00000379742.4_Splice_Site|POSTN_ENST00000379743.4_Splice_Site|POSTN_ENST00000541481.1_Splice_Site	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor						cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding	p.?(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		AGACAACTTACTTCTTTCAGA	0.318000													43	44					0	0	0.000125731	0	0
POLE	5426	broad.mit.edu	37	12	133220441	133220441	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr12:133220441C>A	ENST00000320574.5	-	33	4315	c.4272G>T	c.(4270-4272)gaG>gaT	p.E1424D	POLE_ENST00000535270.1_Missense_Mutation_p.E1397D	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1424					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	p.E1424D(2)		NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		CATATACGCCCTCGATGTCTG	0.557000								DNA polymerases (catalytic subunits)					19	17					5.3912e-06	0.000131114	7.07596e-05	1	0
PDIA3	2923	broad.mit.edu	37	15	44061820	44061820	+	Silent	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr15:44061820C>G	ENST00000300289.5	+	10	1390	c.1242C>G	c.(1240-1242)ccC>ccG	p.P414P	PDIA3_ENST00000538521.1_Silent_p.P394P	NM_005313.4	NP_005304.3	P30101	PDIA3_HUMAN	protein disulfide isomerase family A, member 3	414	Thioredoxin 2.				cell redox homeostasis|glycerol ether metabolic process|post-translational protein modification|protein folding|protein import into nucleus|protein N-linked glycosylation via asparagine|protein retention in ER lumen|signal transduction	endoplasmic reticulum lumen|melanosome	cysteine-type endopeptidase activity|electron carrier activity|phospholipase C activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	p.P414P(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(2)|skin(1)	17		all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.48e-07)		ACCTGGAGCCCAAGTATAAAG	0.388000													5	124					0	0	1.23904e-05	0	0
NCR1	9437	broad.mit.edu	37	19	55420752	55420752	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr19:55420752C>A	ENST00000594765.1	+	4	529	c.504C>A	c.(502-504)taC>taA	p.Y168*	NCR1_ENST00000447255.1_Nonsense_Mutation_p.Y168*|NCR1_ENST00000338835.5_Nonsense_Mutation_p.Y168*|NCR1_ENST00000291890.4_Nonsense_Mutation_p.Y168*|NCR1_ENST00000357397.5_Nonsense_Mutation_p.Y61*|NCR1_ENST00000598576.1_Nonsense_Mutation_p.Y156*|NCR1_ENST00000350790.5_Nonsense_Mutation_p.Y73*			O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1	168	Ig-like 2.				cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane|SWI/SNF complex	receptor activity|receptor signaling protein activity	p.Y168*(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		AGCGCGGATACGGGAAGGTCC	0.567000													18	22					4.96729e-08	1.23599e-06	0.000132079	1	0
SLC4A8	9498	broad.mit.edu	37	12	51888800	51888800	+	Silent	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr12:51888800G>C	ENST00000453097.2	+	21	3058	c.2841G>C	c.(2839-2841)gtG>gtC	p.V947V	SLC4A8_ENST00000358657.3_Silent_p.V974V	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 8	947					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity	p.V947V(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		TGCGGCATGTGCCGCTGCGCA	0.507000													39	70					0	0	0.000270559	0	0
SLCO3A1	28232	broad.mit.edu	37	15	92669306	92669306	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr15:92669306C>G	ENST00000318445.6	+	6	1404	c.1190C>G	c.(1189-1191)cCg>cGg	p.P397R	SLCO3A1_ENST00000555549.1_3'UTR|SLCO3A1_ENST00000424469.2_Missense_Mutation_p.P397R	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	397					sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity	p.P397R(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			ACTGCGATCCCGTGTGCTTGT	0.602000													3	48					0	0	3.59834e-05	0	0
IFFO1	25900	broad.mit.edu	37	12	6650692	6650692	+	Silent	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr12:6650692G>C	ENST00000436152.2	-	10	1210	c.651C>G	c.(649-651)acC>acG	p.T217T	IFFO1_ENST00000465801.1_Silent_p.T216T|IFFO1_ENST00000356896.4_Silent_p.T524T|IFFO1_ENST00000396840.2_Silent_p.T520T|IFFO1_ENST00000336604.4_Silent_p.T523T			Q0D2I5	IFFO1_HUMAN	intermediate filament family orphan 1	520						intermediate filament		p.T520T(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						CTCCAGACTGGGTGATGAGCC	0.637000													18	27					0	0	9.7654e-05	0	0
USP34	9736	broad.mit.edu	37	2	61456684	61456684	+	Splice_Site	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr2:61456684C>G	ENST00000398571.2	-	59	7274	c.7199_splice	c.e59+1	p.G2400_splice		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	2400					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.G2400R(1)		autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			ACTTCTTACCCATCTTCCATT	0.348000													6	340					0	0	8.12818e-05	0	0
SCN8A	6334	broad.mit.edu	37	12	52159702	52159702	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr12:52159702G>T	ENST00000354534.5	+	16	2970	c.2792G>T	c.(2791-2793)cGa>cTa	p.R931L	SCN8A_ENST00000545061.1_Missense_Mutation_p.R931L|SCN8A_ENST00000550891.1_Missense_Mutation_p.R931L	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	931					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity	p.R931L(2)|p.R931Q(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	ATTGTCTTTCGAGTGTTGTGC	0.498000													8	282					0.000442599	0.00988708	0.000442599	1	0
DCAF12	25853	broad.mit.edu	37	9	34098434	34098434	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr9:34098434C>G	ENST00000361264.4	-	5	1024	c.683G>C	c.(682-684)cGg>cCg	p.R228P		NM_015397.3	NP_056212.1	Q5T6F0	DCA12_HUMAN	DDB1 and CUL4 associated factor 12	228						centrosome|CUL4 RING ubiquitin ligase complex		p.R228P(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	11						CACAGGGACCCGTGACACATT	0.517000													4	85					0	0	1.23904e-05	0	0
AVIL	10677	broad.mit.edu	37	12	58191674	58191674	+	Silent	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr12:58191674C>G	ENST00000537081.1	-	19	2429	c.2430G>C	c.(2428-2430)ggG>ggC	p.G810G	TSFM_ENST00000550559.1_Intron|TSFM_ENST00000548851.1_Intron|TSFM_ENST00000543727.1_Intron|AVIL_ENST00000257861.3_Silent_p.G817G			O75366	AVIL_HUMAN	advillin	817	HP.|Headpiece (By similarity).				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding	p.G817G(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					TTTAGAAAAGCCCCTTTTCTT	0.443000													22	64					0	0	0.000229342	0	0
GRHPR	9380	broad.mit.edu	37	9	37436696	37436696	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr9:37436696C>G	ENST00000318158.6	+	9	989	c.904C>G	c.(904-906)Cgc>Ggc	p.R302G		NM_012203.1	NP_036335.1	Q9UBQ7	GRHPR_HUMAN	glyoxylate reductase/hydroxypyruvate reductase	302					cellular nitrogen compound metabolic process|excretion|glyoxylate metabolic process	peroxisomal matrix	glycerate dehydrogenase activity|glyoxylate reductase (NADP) activity|hydroxypyruvate reductase activity|NAD binding|protein binding	p.R302G(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12				GBM - Glioblastoma multiforme(29;0.00687)		CCACAGAACCCGCAACACCAT	0.552000													4	148					0	0	0.00024832	0	0
HOGA1	112817	broad.mit.edu	37	10	99371273	99371273	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr10:99371273C>G	ENST00000370646.4	+	7	1202	c.841C>G	c.(841-843)Cgg>Ggg	p.R281G	PI4K2A_ENST00000555577.1_Intron|PI4K2A_ENST00000370649.3_Intron|HOGA1_ENST00000370647.4_Missense_Mutation_p.R118G	NM_138413.3	NP_612422.2			4-hydroxy-2-oxoglutarate aldolase 1									p.R281G(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|stomach(1)	14						GCAGGTGACCCGGCGCTTTGG	0.552000													4	106					0	0	3.59834e-05	0	0
MAST2	23139	broad.mit.edu	37	1	46487708	46487708	+	Silent	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:46487708C>G	ENST00000361297.2	+	12	1660	c.1377C>G	c.(1375-1377)ccC>ccG	p.P459P	MAST2_ENST00000372008.1_Silent_p.P344P|MAST2_ENST00000372009.2_Silent_p.P389P	NM_015112.2	NP_055927.2	Q6P0Q8	MAST2_HUMAN	microtubule associated serine/threonine kinase 2	459					regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity	p.R460S(1)		breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					GTGACATTCCCCGCTACATCG	0.562000													4	101					0	0	0.00024832	0	0
DCAF8	50717	broad.mit.edu	37	1	160201110	160201110	+	Silent	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:160201110C>G	ENST00000368073.3	-	7	1481	c.1047G>C	c.(1045-1047)gtG>gtC	p.V349V	DCAF8_ENST00000556710.1_Silent_p.V503V|DCAF8_ENST00000326837.2_Silent_p.V349V|DCAF8_ENST00000368074.1_Silent_p.V349V|DCAF8_ENST00000461888.1_5'UTR			Q5TAQ9	DCAF8_HUMAN	DDB1 and CUL4 associated factor 8	349						CUL4 RING ubiquitin ligase complex	protein binding	p.V503V(1)|p.V349V(1)		cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(16)|skin(3)|upper_aerodigestive_tract(1)	33						CTCGTCCACCCACTGCAAACT	0.433000													5	189					0	0	3.59834e-05	0	0
DPH2	1802	broad.mit.edu	37	1	44437603	44437603	+	Silent	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:44437603G>C	ENST00000255108.3	+	4	1201	c.1029G>C	c.(1027-1029)ctG>ctC	p.L343L	DPH2_ENST00000396758.2_Intron|DPH2_ENST00000412950.2_Silent_p.L208L	NM_001384.4	NP_001375.2	Q9BQC3	DPH2_HUMAN	DPH2 homolog (S. cerevisiae)	343					peptidyl-diphthamide biosynthetic process from peptidyl-histidine	cytoplasm		p.L343L(1)		autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(2)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				CCTGTCCTCTGGGTGCTCTAG	0.607000													5	149					0	0	8.12818e-05	0	0
GP2	2813	broad.mit.edu	37	16	20329730	20329730	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr16:20329730C>G	ENST00000302555.5	-	7	1179	c.1030G>C	c.(1030-1032)Ggg>Cgg	p.G344R	GP2_ENST00000381360.5_Missense_Mutation_p.G200R|GP2_ENST00000381362.4_Missense_Mutation_p.G347R|GP2_ENST00000341642.5_Missense_Mutation_p.G197R|GP2_ENST00000573897.1_5'UTR			P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	347	ZP.					anchored to membrane|extracellular region|plasma membrane		p.G344R(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						TCTCCATTCCCGTCCACACTG	0.468000													4	112					0	0	3.59834e-05	0	0
CFTR	1080	broad.mit.edu	37	7	117267710	117267710	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr7:117267710T>A	ENST00000003084.6	+	22	3735	c.3603T>A	c.(3601-3603)gaT>gaA	p.D1201E	CFTR_ENST00000454343.1_Missense_Mutation_p.D1140E|AC000111.6_ENST00000456270.1_RNA	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	1201					respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding	p.D1201E(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	TGAAGAAAGATGACATCTGGC	0.408000									Cystic Fibrosis				22	41					0	0	0.000375601	0	0
TTN	7273	broad.mit.edu	37	2	179407625	179407625	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr2:179407625G>C	ENST00000589042.1	-	348	97180	c.96956C>G	c.(96955-96957)cCa>cGa	p.P32319R	TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P30678R|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P23446R|TTN_ENST00000359218.5_Missense_Mutation_p.P23379R|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P29751R|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P23254R|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	30678	Protein kinase.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.P29751R(1)|p.P23446R(1)|p.P29749R(1)|p.P23379R(1)|p.P23254R(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTGCCAGCTGGGACATGGAT	0.453000													6	397					0	0	8.12818e-05	0	0
DCAF8	50717	broad.mit.edu	37	1	160188115	160188115	+	Splice_Site	SNP	C	C	G	rs142007100	byFrequency	TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:160188115C>G	ENST00000368073.3	-	13	2110	c.1677_splice	c.e13+1	p.R559_splice	DCAF8_ENST00000556710.1_Splice_Site_p.R713_splice|DCAF8_ENST00000326837.2_Splice_Site_p.R559_splice|DCAF8_ENST00000368074.1_Splice_Site_p.R559_splice|DCAF8_ENST00000461888.1_5'UTR			Q5TAQ9	DCAF8_HUMAN	DDB1 and CUL4 associated factor 8	559						CUL4 RING ubiquitin ligase complex	protein binding	p.R713L(1)|p.R559L(1)		cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(16)|skin(3)|upper_aerodigestive_tract(1)	33						CTAGCTTACCCGGTGATGGCG	0.478000													5	270					0	0	3.59834e-05	0	0
TARSL2	123283	broad.mit.edu	37	15	102264433	102264433	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr15:102264433T>A	ENST00000335968.3	-	1	374	c.158A>T	c.(157-159)gAg>gTg	p.E53V		NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	53					threonyl-tRNA aminoacylation	cytoplasm	ATP binding|threonine-tRNA ligase activity	p.E53V(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CTGCGCCACCTCCCGCGTGAG	0.736000													5	4					0	0	1.23904e-05	0	0
C7orf63	79846	broad.mit.edu	37	7	89929315	89929315	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr7:89929315G>T	ENST00000389297.4	+	17	2243	c.1992G>T	c.(1990-1992)ttG>ttT	p.L664F	C7orf63_ENST00000316089.8_Missense_Mutation_p.L664F|C7orf63_ENST00000497910.1_Missense_Mutation_p.L646F	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN	chromosome 7 open reading frame 63	664							binding	p.L664F(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						TAATTAAATTGTGGAGAAAGG	0.338000													31	33					2.85442e-18	7.8267e-17	0.000339439	1	0
GRID1	2894	broad.mit.edu	37	10	87614258	87614258	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr10:87614258G>T	ENST00000327946.7	-	8	1313	c.1228C>A	c.(1228-1230)Cgc>Agc	p.R410S		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	410						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	p.R410S(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	CTTACCTTGCGCATGTCTTTG	0.512000										Multiple Myeloma(13;0.14)			25	42					1.32181e-22	3.72665e-21	0.000184323	1	0
ZNF831	128611	broad.mit.edu	37	20	57766592	57766592	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr20:57766592C>G	ENST00000371030.2	+	1	518	c.518C>G	c.(517-519)cCg>cGg	p.P173R		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	173						intracellular	nucleic acid binding|zinc ion binding	p.P173R(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					AGGCCCTTCCCGTGTGCCACC	0.607000													4	112					0	0	3.59834e-05	0	0
OR5J2	282775	broad.mit.edu	37	11	55944491	55944491	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr11:55944491C>A	ENST00000312298.1	+	1	398	c.398C>A	c.(397-399)aCt>aAt	p.T133N		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	133					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T133N(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					TTGCTTTACACTGTAGCCATG	0.458000													42	63					6.57855e-14	1.72597e-12	0.000437636	1	0
KIAA1109	84162	broad.mit.edu	37	4	123167449	123167449	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr4:123167449C>A	ENST00000264501.4	+	33	5553	c.5180C>A	c.(5179-5181)cCa>cAa	p.P1727Q	KIAA1109_ENST00000388738.3_Missense_Mutation_p.P1727Q|KIAA1109_ENST00000455637.1_Missense_Mutation_p.P1727Q			Q2LD37	K1109_HUMAN	KIAA1109	1727					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		p.P1727Q(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GTTAGCATACCAAAGGTAACa	0.328000													12	167					6.40141e-05	0.00151212	6.40141e-05	1	0
MRPS25	64432	broad.mit.edu	37	3	15094060	15094060	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr3:15094060C>G	ENST00000253686.2	-	4	550	c.410G>C	c.(409-411)cGg>cCg	p.R137P	MRPS25_ENST00000449354.2_Intron|MRPS25_ENST00000444840.2_Missense_Mutation_p.G108R	NM_022497.3	NP_071942.1	P82663	RT25_HUMAN	mitochondrial ribosomal protein S25	137					translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome			large_intestine(1)|lung(1)	2						GATGCACTCCCGCAGGCAGTA	0.582000													5	234					0	0	8.12818e-05	0	0
CATSPER3	347732	broad.mit.edu	37	5	134303734	134303734	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr5:134303734T>C	ENST00000282611.6	+	1	139	c.53T>C	c.(52-54)gTt>gCt	p.V18A	PCBD2_ENST00000512783.1_3'UTR|CATSPER3_ENST00000511235.1_3'UTR	NM_178019.2	NP_821138.1	Q86XQ3	CTSR3_HUMAN	cation channel, sperm associated 3	18					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity	p.V18A(1)		NS(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGTTCACCAGTTGACACTACA	0.383000													21	12					0	0	9.22233e-05	0	0
DDX55	57696	broad.mit.edu	37	12	124104073	124104073	+	Silent	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr12:124104073C>G	ENST00000238146.4	+	13	1478	c.1428C>G	c.(1426-1428)ccC>ccG	p.P476P	DDX55_ENST00000421670.3_Silent_p.P83P|DDX55_ENST00000538744.1_Silent_p.P445P|DDX55_ENST00000541259.1_3'UTR	NM_020936.1	NP_065987.1	Q8NHQ9	DDX55_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 55	476							ATP binding|ATP-dependent helicase activity|RNA binding	p.P476P(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)		ATTTTGTGCCCGTGGACGTTA	0.438000													4	146					0	0	0.00024832	0	0
DCAF8L1	139425	broad.mit.edu	37	X	27998808	27998808	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chrX:27998808C>T	ENST00000441525.1	-	1	758	c.644G>A	c.(643-645)gGt>gAt	p.G215D		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	215								p.G215D(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						TAAGTCATCACCGCTACTGGC	0.507000													13	2					0	0	0.000151284	0	0
KCNK7	10089	broad.mit.edu	37	11	65360547	65360547	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr11:65360547C>G	ENST00000340313.4	-	3	1076	c.853G>C	c.(853-855)Ggg>Cgg	p.G285R	KCNK7_ENST00000342202.4_3'UTR|KCNK7_ENST00000394216.2_3'UTR|KCNK7_ENST00000394217.2_3'UTR	NM_033347.1	NP_203133.1	Q9Y2U2	KCNK7_HUMAN	potassium channel, subfamily K, member 7	285						integral to membrane	potassium channel activity|voltage-gated ion channel activity	p.G285R(1)		endometrium(1)|liver(1)|lung(1)	3						TCATCCTGCCCTAGGATGCCA	0.627000													3	16					0	0	1.23904e-05	0	0
ZNF737	100129842	broad.mit.edu	37	19	20727897	20727897	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr19:20727897C>A	ENST00000427401.4	-	4	1206	c.1112G>T	c.(1111-1113)tGt>tTt	p.C371F		NM_001159293.1	NP_001152765.1	C9JHM3	C9JHM3_HUMAN	zinc finger protein 737	371					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.C370F(1)		breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						ACATTCTTCACATTTGTAGGG	0.408000													13	13					3.45872e-05	0.000823964	0.000422831	1	0
FGF18	8817	broad.mit.edu	37	5	170863159	170863159	+	Silent	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr5:170863159G>C	ENST00000274625.5	+	3	676	c.132G>C	c.(130-132)cgG>cgC	p.R44R		NM_003862.2	NP_003853.1	O76093	FGF18_HUMAN	fibroblast growth factor 18	44					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell proliferation	extracellular space|nucleolus	growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding	p.R44R(1)		endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	9	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CGCGGGCTCGGGACGATGTGA	0.637000													3	27					0	0	1.23904e-05	0	0
RAG1	5896	broad.mit.edu	37	11	36597288	36597288	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr11:36597288C>G	ENST00000299440.5	+	2	2546	c.2434C>G	c.(2434-2436)Cag>Gag	p.Q812E		NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN	recombination activating gene 1	812					histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	p.Q812E(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				CAAGATCTTCCAGCTAGAGAT	0.473000									Familial Hemophagocytic Lymphohistiocytosis				4	97					0	0	1.23904e-05	0	0
OR7A5	26659	broad.mit.edu	37	19	14938679	14938679	+	Silent	SNP	G	G	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr19:14938679G>A	ENST00000322301.3	-	2	462	c.375C>T	c.(373-375)gcC>gcT	p.A125A	OR7A5_ENST00000601611.1_Intron|OR7A5_ENST00000594432.1_Silent_p.A125A			Q15622	OR7A5_HUMAN	olfactory receptor, family 7, subfamily A, member 5	125					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A125A(1)		breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						GGTGACAGATGGCCACAAACC	0.488000													40	11					0	0	0.000106405	0	0
RANBP10	57610	broad.mit.edu	37	16	67805983	67805983	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr16:67805983C>G	ENST00000317506.3	-	3	469	c.354G>C	c.(352-354)atG>atC	p.M118I	RANBP10_ENST00000411657.2_Start_Codon_SNP_p.M1I|RANBP10_ENST00000536251.1_5'UTR|RANBP10_ENST00000448631.2_Missense_Mutation_p.M118I|RANBP10_ENST00000602887.1_5'UTR|RANBP10_ENST00000602677.1_Missense_Mutation_p.M118I|RANBP10_ENST00000425512.2_Intron	NM_020850.1	NP_065901.1	Q6VN20	RBP10_HUMAN	RAN binding protein 10	118	B30.2/SPRY.							p.M118I(1)		endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		GTCCTATTCCCATGTAACTTC	0.373000													6	205					0	0	3.59834e-05	0	0
NEXN	91624	broad.mit.edu	37	1	78383891	78383891	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:78383891G>A	ENST00000330010.8	+	4	485	c.188G>A	c.(187-189)cGc>cAc	p.R63H	NEXN_ENST00000457030.1_Missense_Mutation_p.R127H|NEXN_ENST00000334785.7_Missense_Mutation_p.R127H|NEXN_ENST00000294624.8_Missense_Mutation_p.R127H	NM_001172309.1	NP_001165780.1	Q0ZGT2	NEXN_HUMAN	nexilin (F actin binding protein)	127	Glu-rich.				regulation of cell migration|regulation of cytoskeleton organization	cytoskeleton|Z disc	actin filament binding|structural constituent of muscle	p.R127H(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		GAACGAAAACGCAGAATTGAG	0.368000													34	53					0	0	8.91981e-05	0	0
ERG	2078	broad.mit.edu	37	21	39755518	39755518	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr21:39755518G>C	ENST00000442448.1	-	11	1467	c.1196C>G	c.(1195-1197)cCg>cGg	p.P399R	ERG_ENST00000288319.7_Missense_Mutation_p.P416R|ERG_ENST00000398897.1_Missense_Mutation_p.P300R|ERG_ENST00000398919.2_Missense_Mutation_p.P423R|ERG_ENST00000453032.2_Missense_Mutation_p.P324R|ERG_ENST00000398907.1_Missense_Mutation_p.P393R|ERG_ENST00000398905.1_Missense_Mutation_p.P392R|ERG_ENST00000417133.2_Missense_Mutation_p.P423R|ERG_ENST00000398910.1_Missense_Mutation_p.P400R|ERG_ENST00000398911.1_Missense_Mutation_p.P399R	NM_004449.4	NP_004440.1	P11308	ERG_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog	423					cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.P423R(1)	EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)				GCCCATGTACGGGAGGTCTGA	0.612000			T	"""EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"""	"""Ewing sarcoma, prostate, AML"""								3	41					0	0	6.4e-05	0	0
IL12A-AS1	101928376	broad.mit.edu	37	3	159818620	159818620	+	RNA	SNP	A	A	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr3:159818620A>T	ENST00000497452.1	-	0	517																											GGGGACGGGCACCGGGGCCCG	0.701000													14	26					0	0	0.000422831	0	0
COL22A1	169044	broad.mit.edu	37	8	139629183	139629183	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr8:139629183C>A	ENST00000303045.6	-	54	4290	c.3844G>T	c.(3844-3846)Ggc>Tgc	p.G1282C	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Missense_Mutation_p.G1262C	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1282	Collagen-like 12.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity	p.G1282C(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CCAGAATCGCCTGTGTGTCCC	0.577000										HNSCC(7;0.00092)			18	33					1.96292e-10	4.99082e-09	0.000175454	1	0
ATP7B	540	broad.mit.edu	37	13	52548699	52548699	+	Silent	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr13:52548699C>G	ENST00000242839.4	-	2	813	c.657G>C	c.(655-657)ctG>ctC	p.L219L	ATP7B_ENST00000344297.5_Silent_p.L219L|ATP7B_ENST00000400370.3_Silent_p.L219L|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000400366.3_Silent_p.L219L|ATP7B_ENST00000418097.2_Silent_p.L219L|ATP7B_ENST00000448424.2_Silent_p.L219L|ATP7B_ENST00000542656.1_Silent_p.L187L	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	219					ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding	p.L219L(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		CAATTGGTCCCAGGCTTAAGG	0.448000									Wilson disease				6	219					0	0	3.59834e-05	0	0
GABRQ	55879	broad.mit.edu	37	X	151818273	151818273	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chrX:151818273G>A	ENST00000370306.2	+	6	699	c.679G>A	c.(679-681)Gag>Aag	p.E227K		NM_018558.2	NP_061028.2	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	227						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity	p.E227K(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)					CATGACTGAGGAGCTGCATAT	0.483000													64	13					0	0	0.000147903	0	0
SENP7	57337	broad.mit.edu	37	3	101231956	101231956	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr3:101231956C>G	ENST00000394095.2	-	1	72	c.19G>C	c.(19-21)Ggg>Cgg	p.G7R	SENP7_ENST00000358203.3_5'UTR|SENP7_ENST00000348610.3_5'UTR|SENP7_ENST00000314261.7_Missense_Mutation_p.G7R|SENP7_ENST00000394094.2_Missense_Mutation_p.G7R|SENP7_ENST00000394091.1_5'UTR	NM_020654.3	NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	7					proteolysis	nucleus	cysteine-type peptidase activity	p.G7R(2)		breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GGCCGTCGCCCGAGCTTTCTC	0.607000													4	150					0	0	0.00024832	0	0
POLE	5426	broad.mit.edu	37	12	133245001	133245001	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr12:133245001C>G	ENST00000320574.5	-	19	2157	c.2114G>C	c.(2113-2115)cGg>cCg	p.R705P	POLE_ENST00000535270.1_Missense_Mutation_p.R678P	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	705					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	p.R705P(2)		NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		ATGAAAGGCCCGAGCTGGCCC	0.607000								DNA polymerases (catalytic subunits)					4	113					0	0	0.00024832	0	0
PTH2R	5746	broad.mit.edu	37	2	209353827	209353827	+	Silent	SNP	C	C	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr2:209353827C>T	ENST00000272847.2	+	11	1380	c.1167C>T	c.(1165-1167)ctC>ctT	p.L389L	AC019185.4_ENST00000424628.1_RNA|PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	389						integral to plasma membrane	parathyroid hormone receptor activity	p.L389L(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		TCACTGGGCTCGGGTGGGAGA	0.488000													29	51					0	0	0.000227799	0	0
EIF2B3	8891	broad.mit.edu	37	1	45340362	45340362	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:45340362G>C	ENST00000360403.2	-	10	1316	c.1190C>G	c.(1189-1191)aCt>aGt	p.T397S	EIF2B3_ENST00000372183.3_Missense_Mutation_p.T397S	NM_001261418.1|NM_020365.4	NP_001248347.1|NP_065098.1	Q9NR50	EI2BG_HUMAN	eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa	397					negative regulation of translational initiation in response to stress|oligodendrocyte development|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	nucleotidyltransferase activity|protein binding|translation initiation factor activity	p.T397S(1)		endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	17	Acute lymphoblastic leukemia(166;0.155)					TTCCTCCACAGTGACTGAGTT	0.398000													50	74					0	0	0.000147903	0	0
GPATCH1	55094	broad.mit.edu	37	19	33602681	33602681	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr19:33602681G>T	ENST00000170564.2	+	12	1951	c.1637G>T	c.(1636-1638)cGt>cTt	p.R546L		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	546						catalytic step 2 spliceosome	nucleic acid binding	p.R546L(1)		breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					GAGCGAGGCCGTGAGCGGGAT	0.582000													30	11					1.30897e-18	3.61039e-17	0.000279167	1	0
NEUROD6	63974	broad.mit.edu	37	7	31378296	31378296	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr7:31378296G>T	ENST00000297142.3	-	2	909	c.587C>A	c.(586-588)gCt>gAt	p.A196D		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	196					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.A196D(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						GTGGTGTGCAGCCTCCCCACC	0.552000													38	49					2.05212e-20	5.72791e-19	0.000191422	1	0
MC5R	4161	broad.mit.edu	37	18	13826433	13826433	+	Silent	SNP	C	C	G	rs142471410		TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr18:13826433C>G	ENST00000324750.3	+	1	891	c.669C>G	c.(667-669)ccC>ccG	p.P223P		NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	223				ALPGASSARQRTSM -> LCPGPALRGRGPAW (in Ref. 1).	G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding	p.P223P(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						CGGCTCTGCCCGGGGCCAGCT	0.622000													5	182					0	0	1.23904e-05	0	0
PHACTR2	9749	broad.mit.edu	37	6	144033228	144033228	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr6:144033228G>A	ENST00000427704.2	+	2	219	c.89G>A	c.(88-90)aGa>aAa	p.R30K	PHACTR2_ENST00000367584.4_Missense_Mutation_p.R98K|PHACTR2_ENST00000305766.6_Missense_Mutation_p.R30K|PHACTR2_ENST00000397980.3_Missense_Mutation_p.R41K|PHACTR2_ENST00000440869.2_Missense_Mutation_p.R41K|PHACTR2_ENST00000367582.3_Missense_Mutation_p.R41K	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2	30							actin binding|protein phosphatase inhibitor activity	p.R41K(1)|p.R30K(1)		NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		CCCTTCAAAAGAAAGGGGAAA	0.428000													60	96					0	0	0.000147903	0	0
HEG1	57493	broad.mit.edu	37	3	124732073	124732073	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr3:124732073G>C	ENST00000311127.4	-	6	2417	c.2350C>G	c.(2350-2352)Cca>Gca	p.P784A		NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	784						extracellular region|integral to membrane	calcium ion binding	p.P784A(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						TCTTGGTGTGGGGTGCTCTGG	0.463000													5	264					0	0	3.59834e-05	0	0
DCC	1630	broad.mit.edu	37	18	50734108	50734108	+	Nonsense_Mutation	SNP	T	T	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr18:50734108T>A	ENST00000442544.2	+	11	2398	c.1782T>A	c.(1780-1782)taT>taA	p.Y594*	DCC_ENST00000581580.1_Nonsense_Mutation_p.Y249*|DCC_ENST00000412726.1_Nonsense_Mutation_p.Y442*	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	594	Fibronectin type-III 2.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		p.Y594*(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TCACCGAATATAGTCTTCGAT	0.378000													45	94					0	0	0.000125731	0	0
GPR128	84873	broad.mit.edu	37	3	100362125	100362125	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr3:100362125G>C	ENST00000273352.3	+	7	982	c.714G>C	c.(712-714)atG>atC	p.M238I	GPR128_ENST00000475887.1_Intron	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	238					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.M238I(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						TTGAGCAAATGGAGACTTATT	0.363000													6	193					0	0	0.000157383	0	0
RAB2A	5862	broad.mit.edu	37	8	61496839	61496839	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr8:61496839G>T	ENST00000262646.7	+	4	610	c.259G>T	c.(259-261)Gat>Tat	p.D87Y	RAB2A_ENST00000530071.1_3'UTR|RAB2A_ENST00000529579.1_Missense_Mutation_p.D87Y|RAB2A_ENST00000531289.1_Missense_Mutation_p.D63Y	NM_002865.2	NP_002856.1	P61019	RAB2A_HUMAN	RAB2A, member RAS oncogene family	87					ER to Golgi vesicle-mediated transport|protein transport|small GTPase mediated signal transduction	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|melanosome	GDP binding|GTP binding|GTPase activity	p.D87Y(1)		endometrium(1)|large_intestine(1)|lung(4)	6			BRCA - Breast invasive adenocarcinoma(89;0.0805)			ACTAGTTTACGATATTACACG	0.378000													62	94					1.34159e-35	3.97475e-34	0.000147903	1	0
GRB2	2885	broad.mit.edu	37	17	73316467	73316467	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr17:73316467G>C	ENST00000578961.1	-	4	641	c.467C>G	c.(466-468)cCg>cGg	p.P156R	GRB2_ENST00000392564.1_Silent_p.P212P|GRB2_ENST00000392563.1_Silent_p.P171P|GRB2_ENST00000316804.5_Silent_p.P212P|GRB2_ENST00000462266.1_5'UTR|GRB2_ENST00000392562.1_Silent_p.P212P|GRB2_ENST00000316615.5_Silent_p.P171P			P62993	GRB2_HUMAN	growth factor receptor-bound protein 2	0	SH3 2.				axon guidance|blood coagulation|cell junction assembly|cell-cell signaling|cellular response to ionizing radiation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|receptor internalization|signal transduction in response to DNA damage|T cell costimulation	cytosol|Golgi apparatus	epidermal growth factor receptor binding|insulin receptor substrate binding|SH3/SH2 adaptor activity	p.P212P(2)		breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	17	all_cancers(13;5.44e-09)|all_epithelial(9;1.1e-09)|Breast(9;1.85e-09)|all_lung(278;0.222)		all cancers(21;1.09e-07)|Epithelial(20;1.23e-06)|Lung(188;0.185)		Pegademase bovine(DB00061)	TCCGGTTCACGGGGGTGACAT	0.453000													5	216					0	0	3.59834e-05	0	0
ANAPC10	10393	broad.mit.edu	37	4	145916629	145916629	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr4:145916629G>C	ENST00000507656.1	-	5	547	c.454C>G	c.(454-456)Cat>Gat	p.H152D	ANAPC10_ENST00000309439.5_Missense_Mutation_p.H152D|ANAPC10_ENST00000510270.1_5'UTR|ANAPC10_ENST00000451299.2_Missense_Mutation_p.H152D	NM_001256706.1	NP_001243635.1	Q9UM13	APC10_HUMAN	anaphase promoting complex subunit 10	152	DOC.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin-protein ligase activity	p.H152D(1)		endometrium(1)|large_intestine(3)|lung(1)|skin(1)	6	all_hematologic(180;0.151)					TGTCTCATATGGGTGTCTCTT	0.368000													5	216					0	0	3.59834e-05	0	0
VANGL1	81839	broad.mit.edu	37	1	116206619	116206619	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:116206619G>C	ENST00000355485.2	+	4	813	c.542G>C	c.(541-543)cGg>cCg	p.R181P	VANGL1_ENST00000369509.1_Missense_Mutation_p.R181P|VANGL1_ENST00000310260.3_Missense_Mutation_p.R181P|VANGL1_ENST00000369510.3_Missense_Mutation_p.R179P	NM_001172411.1|NM_138959.2	NP_001165882.1|NP_620409.1	Q8TAA9	VANG1_HUMAN	VANGL planar cell polarity protein 1	181			R -> Q (in NTD; uncertain pathogenicity).		multicellular organismal development	integral to membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(13)|urinary_tract(1)	27	Lung SC(450;0.211)	all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		GACATGCCACGGGTGTTTGTG	0.498000													10	477					0	0	0.000219431	0	0
EVI5	7813	broad.mit.edu	37	1	93202138	93202138	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:93202138C>G	ENST00000370331.1	-	2	107	c.98G>C	c.(97-99)tGg>tCg	p.W33S	EVI5_ENST00000543509.1_Missense_Mutation_p.W33S|EVI5_ENST00000540033.1_Missense_Mutation_p.W33S	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5	33	Interaction with alpha-tubulin, gamma- tubulin, BIRC5 and FBXO5.|Ser-rich.				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	protein binding|Rab GTPase activator activity	p.W33S(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		GTTCTTCACCCATGAGAGAGT	0.423000													5	168					0	0	0.000157383	0	0
DHX38	9785	broad.mit.edu	37	16	72142725	72142725	+	Silent	SNP	C	C	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr16:72142725C>T	ENST00000268482.3	+	24	3791	c.3282C>T	c.(3280-3282)cgC>cgT	p.R1094R	DHX38_ENST00000536867.1_Silent_p.R406R	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	1094					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	p.R1094L(1)		endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				TGAACATCCGCACAGGGATGC	0.547000													10	23					0	0	3.86212e-05	0	0
CHRM4	1132	broad.mit.edu	37	11	46407116	46407116	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr11:46407116C>G	ENST00000433765.2	-	1	991	c.992G>C	c.(991-993)cGg>cCg	p.R331P		NM_000741.2	NP_000732.2	P08173	ACM4_HUMAN	cholinergic receptor, muscarinic 4	331					cell proliferation	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity	p.R331P(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	20				GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809)	GTTGAGGGCCCGCGGCTGCAG	0.637000													6	317					0	0	0.000274275	0	0
AE000661.37	0	broad.mit.edu	37	14	22919113	22919113	+	RNA	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr14:22919113C>A	ENST00000514473.2	-	0	225				TRDJ1_ENST00000390473.1_RNA																							AAAAGGAACCCGTGTGACTGT	0.443000													38	12					2.9001e-28	8.41391e-27	0.000147903	1	0
RPTN	126638	broad.mit.edu	37	1	152128582	152128582	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:152128582G>T	ENST00000316073.3	-	3	1057	c.993C>A	c.(991-993)taC>taA	p.Y331*		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	331	Gln-rich.					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						CTGGCTGACTGTAGTGGGAAC	0.488000													10	888					0.00010058	0.0023481	0.00010058	1	0
ABHD1	84696	broad.mit.edu	37	2	27353581	27353581	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr2:27353581C>A	ENST00000316470.4	+	9	1301	c.1187C>A	c.(1186-1188)gCt>gAt	p.A396D		NM_032604.3	NP_115993.3	Q96SE0	ABHD1_HUMAN	abhydrolase domain containing 1	396						integral to membrane	carboxylesterase activity	p.A396D(1)		endometrium(1)|kidney(1)|lung(3)	5	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GACCTCAGGGCTCTCTTACCT	0.512000													23	40					3.7963e-18	1.03889e-16	0.00047179	1	0
CFAP221	200373	broad.mit.edu	37	2	120395970	120395970	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr2:120395970C>G	ENST00000602047.1	+	21	2364	c.1252C>G	c.(1252-1254)Caa>Gaa	p.Q418E	PCDP1_ENST00000413369.3_Missense_Mutation_p.Q704E			Q4G0U5	PCDP1_HUMAN		704						cilium	calmodulin binding	p.Q418E(1)				Colorectal(110;0.196)					TCCTGTCACCCAAAAGCAGTT	0.537000													4	74					0	0	0.00024832	0	0
CSMD3	114788	broad.mit.edu	37	8	113253965	113253965	+	Silent	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr8:113253965G>C	ENST00000297405.5	-	66	10696	c.10452C>G	c.(10450-10452)ccC>ccG	p.P3484P	CSMD3_ENST00000352409.3_Silent_p.P3414P|CSMD3_ENST00000343508.3_Silent_p.P3444P|CSMD3_ENST00000455883.2_Silent_p.P3315P	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3484						integral to membrane|plasma membrane		p.P3444P(2)|p.P3484P(2)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GCTTTGGGCTGGGTGTTCCCA	0.323000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			5	221					0	0	0.000157383	0	0
COQ3	51805	broad.mit.edu	37	6	99823932	99823932	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr6:99823932G>C	ENST00000254759.3	-	5	637	c.613C>G	c.(613-615)Ctg>Gtg	p.L205V	COQ3_ENST00000369242.1_Intron|COQ3_ENST00000369240.1_Intron	NM_017421.3	NP_059117.3	Q9NZJ6	COQ3_HUMAN	coenzyme Q3 methyltransferase	205					glycerol metabolic process|ubiquinone biosynthetic process	mitochondrial matrix	2-polyprenyl-6-methoxy-1,4-benzoquinone methyltransferase activity|3-demethylubiquinone-9 3-O-methyltransferase activity|hexaprenyldihydroxybenzoate methyltransferase activity	p.L205V(1)		cervix(1)|lung(5)|upper_aerodigestive_tract(2)	8		all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0625)		ATCTCTTCCAGGGAACACACT	0.393000													5	172					0	0	3.59834e-05	0	0
KDM5C	8242	broad.mit.edu	37	X	53227964	53227964	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chrX:53227964C>A	ENST00000452825.3	-	14	2681	c.2149G>T	c.(2149-2151)Gag>Tag	p.E717*	KDM5C_ENST00000404049.3_Nonsense_Mutation_p.E783*|KDM5C_ENST00000375379.3_Nonsense_Mutation_p.E784*|KDM5C_ENST00000375383.3_Nonsense_Mutation_p.E743*|KDM5C_ENST00000375401.3_Nonsense_Mutation_p.E784*	NM_001146702.1	NP_001140174.1	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	784					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	p.E717*(1)|p.E784*(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						CGCCCATCCTCCACCTCCAGG	0.572000			"""N, F, S"""		clear cell renal carcinoma								43	14					1.23713e-20	3.46694e-19	0.000147903	1	0
MYOM2	9172	broad.mit.edu	37	8	2092878	2092878	+	Silent	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr8:2092878C>A	ENST00000262113.4	+	37	4512	c.4371C>A	c.(4369-4371)ccC>ccA	p.P1457P	MYOM2_ENST00000520298.1_3'UTR|MYOM2_ENST00000523438.1_Silent_p.P882P	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	1457					muscle contraction	myosin filament	structural constituent of muscle	p.P1457P(1)		autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		AGCTCATCCCCGCGTCTGCCT	0.582000													16	22					6.31663e-08	1.56895e-06	0.000308642	1	0
KCNK18	338567	broad.mit.edu	37	10	118957090	118957090	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr10:118957090G>C	ENST00000334549.1	+	1	91	c.91G>C	c.(91-93)Gtg>Ctg	p.V31L		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	31						integral to membrane|plasma membrane		p.V31L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		CTGCTTTCTGGTGACCTACGC	0.607000													18	27					0	0	9.7654e-05	0	0
ZNF804A	91752	broad.mit.edu	37	2	185801408	185801408	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr2:185801408C>T	ENST00000302277.6	+	4	1879	c.1285C>T	c.(1285-1287)Ctt>Ttt	p.L429F		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	429						intracellular	zinc ion binding	p.L429F(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TGTACCTGTCCTTAACAAACA	0.373000													107	150					0	0	0.000147903	0	0
B4GALT5	9334	broad.mit.edu	37	20	48252857	48252857	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr20:48252857C>A	ENST00000371711.4	-	9	1346	c.1159G>T	c.(1159-1161)Gag>Tag	p.E387*		NM_004776.3	NP_004767.1	O43286	B4GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5	387					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	galactosyltransferase activity|metal ion binding	p.E387*(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20			BRCA - Breast invasive adenocarcinoma(9;2.51e-06)			TCTCAGTACTCGTTCACCTGA	0.483000													53	96					3.40165e-17	9.23665e-16	0.000147903	1	0
GUCY1B3	2983	broad.mit.edu	37	4	156715060	156715060	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr4:156715060A>T	ENST00000264424.8	+	6	630	c.548A>T	c.(547-549)gAa>gTa	p.E183V	GUCY1B3_ENST00000502959.1_Missense_Mutation_p.E205V|GUCY1B3_ENST00000503520.1_Missense_Mutation_p.E183V|GUCY1B3_ENST00000505154.1_Missense_Mutation_p.E115V|GUCY1B3_ENST00000513437.1_Missense_Mutation_p.E115V|GUCY1B3_ENST00000507146.1_Missense_Mutation_p.E115V|GUCY1B3_ENST00000505764.1_Missense_Mutation_p.E163V	NM_000857.2	NP_000848.1	Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3	183					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble|intracellular membrane-bounded organelle	GTP binding|guanylate cyclase activity|receptor activity	p.E183V(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		TTAATTGAAGAAAAAGAGTCA	0.343000													47	91					0	0	0.000147903	0	0
GLUD1	2746	broad.mit.edu	37	10	88827869	88827869	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr10:88827869C>G	ENST00000277865.4	-	5	788	c.692G>C	c.(691-693)cGg>cCg	p.R231P	GLUD1_ENST00000537649.1_Missense_Mutation_p.R64P|GLUD1_ENST00000544149.1_Missense_Mutation_p.R98P	NM_005271.3	NP_005262.1	P00367	DHE3_HUMAN	glutamate dehydrogenase 1	231					glutamate biosynthetic process|glutamate catabolic process|positive regulation of insulin secretion	mitochondrial matrix	ADP binding|ATP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|identical protein binding|leucine binding|NAD+ binding	p.R231Q(1)|p.R231P(1)		endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(11)|prostate(1)	22					L-Glutamic Acid(DB00142)|NADH(DB00157)	GGACATCTCCCGCTCACCTGT	0.532000													4	48					0	0	3.59834e-05	0	0
KIAA1109	84162	broad.mit.edu	37	4	123239424	123239424	+	Splice_Site	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr4:123239424G>C	ENST00000264501.4	+	63	11166	c.10794_splice	c.e63+1	p.R3598_splice	KIAA1109_ENST00000388738.3_Splice_Site_p.R3598_splice|KIAA1109_ENST00000455637.1_Splice_Site_p.R3598_splice			Q2LD37	K1109_HUMAN	KIAA1109	3598					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		p.R3598P(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TCCAGTATGCGGGTGAGTTCT	0.403000													4	117					0	0	1.23904e-05	0	0
ANK3	288	broad.mit.edu	37	10	61941095	61941095	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr10:61941095G>C	ENST00000280772.1	-	18	2367	c.2176C>G	c.(2176-2178)Cag>Gag	p.Q726E	ANK3_ENST00000373827.2_Missense_Mutation_p.Q720E|ANK3_ENST00000503366.1_Missense_Mutation_p.Q709E	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	726					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	p.Q726E(1)|p.Q387E(1)		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						ACCTTTGTCTGGGCGTCCACA	0.498000													6	214					0	0	3.59834e-05	0	0
SYBU	55638	broad.mit.edu	37	8	110592123	110592123	+	Silent	SNP	C	C	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr8:110592123C>T	ENST00000399066.3	-	4	1357	c.630G>A	c.(628-630)ctG>ctA	p.L210L	SYBU_ENST00000533065.1_Silent_p.L94L|SYBU_ENST00000529175.1_Silent_p.L7L|SYBU_ENST00000440310.1_Silent_p.L213L|SYBU_ENST00000533895.1_Silent_p.L212L|SYBU_ENST00000533171.1_Silent_p.L213L|SYBU_ENST00000446070.2_Silent_p.L212L|SYBU_ENST00000528331.1_Silent_p.L94L|SYBU_ENST00000422135.1_Silent_p.L213L|SYBU_ENST00000408908.2_Silent_p.L213L|SYBU_ENST00000529690.1_Silent_p.L83L|SYBU_ENST00000528647.1_Silent_p.L212L|SYBU_ENST00000408889.3_Silent_p.L94L|SYBU_ENST00000532779.1_Silent_p.L145L|SYBU_ENST00000433638.1_Silent_p.L213L|SYBU_ENST00000424158.2_Silent_p.L218L|SYBU_ENST00000419099.1_Silent_p.L212L|SYBU_ENST00000527707.1_5'UTR|SYBU_ENST00000276646.9_Silent_p.L213L	NM_001099756.1	NP_001093226.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	213	Ser-rich.|Sufficient for interaction with KIF5B.					cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane		p.L210L(1)		NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						TGACAGGGCTCAGCTGATTCC	0.552000													72	120					0	0	0.000147903	0	0
PAN2	9924	broad.mit.edu	37	12	56713245	56713245	+	Silent	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr12:56713245C>G	ENST00000425394.2	-	23	3505	c.3129G>C	c.(3127-3129)tcG>tcC	p.S1043S	PAN2_ENST00000440411.3_Silent_p.S1039S|PAN2_ENST00000548043.1_Silent_p.S1043S|PAN2_ENST00000257931.5_Silent_p.S1042S|PAN2_ENST00000549090.1_5'UTR	NM_001127460.2	NP_001120932.1	Q504Q3	PAN2_HUMAN	PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	1043	Exonuclease.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity	p.S1039S(1)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						GCTTTATACCCGAGTATTGAG	0.443000													4	122					0	0	3.59834e-05	0	0
NLRP4	147945	broad.mit.edu	37	19	56379135	56379135	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr19:56379135C>A	ENST00000301295.6	+	6	2669	c.2247C>A	c.(2245-2247)aaC>aaA	p.N749K	NLRP4_ENST00000587891.1_Missense_Mutation_p.N674K|NLRP4_ENST00000346986.5_Intron	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	749							ATP binding	p.N749K(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TTCTAACCAACAACAAGAAGC	0.488000													50	33					1.86633e-21	5.24073e-20	0.000147903	1	0
COL11A1	1301	broad.mit.edu	37	1	103483430	103483430	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:103483430C>G	ENST00000358392.2	-	11	1712	c.1395G>C	c.(1393-1395)atG>atC	p.M465I	COL11A1_ENST00000512756.1_Missense_Mutation_p.M337I|COL11A1_ENST00000353414.4_Missense_Mutation_p.M414I|COL11A1_ENST00000370096.3_Missense_Mutation_p.M453I	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	453	Triple-helical region (interrupted).				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	p.M465I(2)|p.M453I(2)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CTGGAGGACCCATAATACCCT	0.413000													5	156					0	0	3.59834e-05	0	0
INPP4A	3631	broad.mit.edu	37	2	99182490	99182490	+	Splice_Site	SNP	A	A	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr2:99182490A>C	ENST00000074304.5	+	22	2687		c.e22-1		INPP4A_ENST00000409016.3_Splice_Site|INPP4A_ENST00000467042.1_Intron|INPP4A_ENST00000523221.1_Splice_Site|INPP4A_ENST00000409463.1_Splice_Site|INPP4A_ENST00000545415.1_Splice_Site|INPP4A_ENST00000409540.3_Splice_Site|INPP4A_ENST00000409851.3_Splice_Site	NM_001134224.1	NP_001127696.1	Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa						signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	p.?(2)		breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						ACCTTTCTCCAGCGACGGGTT	0.657000													3	9					0	0	0.00024832	0	0
THBS2	7058	broad.mit.edu	37	6	169637803	169637803	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr6:169637803C>A	ENST00000366787.3	-	9	1466	c.1217G>T	c.(1216-1218)cGg>cTg	p.R406L	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	406	TSP type-1 1.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	p.R406L(1)		NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		GTCACAGGACCGGCCTCTCTG	0.652000													16	24					3.41278e-10	8.64572e-09	5.01169e-05	1	0
PCDHGA10	56106	broad.mit.edu	37	5	140794435	140794435	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr5:140794435G>T	ENST00000398610.2	+	1	1693	c.1693G>T	c.(1693-1695)Gag>Tag	p.E565*	PCDHGB6_ENST00000520790.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1												p.E565*(1)		breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAATGCGCCCGAGATCCTGTA	0.652000													64	34					7.05995e-25	2.02308e-23	0.000147903	1	0
ACACB	32	broad.mit.edu	37	12	109690858	109690858	+	Silent	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr12:109690858G>C	ENST00000338432.7	+	43	6059	c.5940G>C	c.(5938-5940)ctG>ctC	p.L1980L	ACACB_ENST00000543201.1_Silent_p.L646L|ACACB_ENST00000377848.3_Silent_p.L1980L|ACACB_ENST00000377854.5_Silent_p.L1910L			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1980	Carboxyltransferase.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	p.L646L(1)|p.L1980L(1)		NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	ACAACCAGCTGGGTGGCGTTC	0.522000													6	180					0	0	0.000157383	0	0
GRIN3A	116443	broad.mit.edu	37	9	104433278	104433278	+	Silent	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr9:104433278G>C	ENST00000361820.3	-	3	2016	c.1416C>G	c.(1414-1416)ccC>ccG	p.P472P		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	472					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding	p.P472P(1)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	GCTTTCCCATGGGGTCATGTT	0.502000													6	249					0	0	0.000274275	0	0
EPPK1	83481	broad.mit.edu	37	8	144940387	144940387	+	Silent	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr8:144940387C>G	ENST00000525985.1	-	2	7106	c.7035G>C	c.(7033-7035)acG>acC	p.T2345T				P58107	EPIPL_HUMAN	epiplakin 1	2345						cytoplasm|cytoskeleton	protein binding|structural molecule activity	p.T2345T(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGACGCCGCCCGTGGCGATCT	0.692000													6	275					0	0	8.12818e-05	0	0
USP9X	8239	broad.mit.edu	37	X	41025463	41025463	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chrX:41025463G>T	ENST00000324545.7	+	16	2957	c.2324G>T	c.(2323-2325)tGg>tTg	p.W775L	USP9X_ENST00000378308.2_Missense_Mutation_p.W775L	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	775					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	p.W775L(1)|p.W768L(1)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						GATTACCTTTGGAGGGTAAGT	0.348000													17	4					7.05477e-17	1.9119e-15	5.01169e-05	1	0
ASXL2	55252	broad.mit.edu	37	2	25973143	25973143	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr2:25973143G>C	ENST00000435504.4	-	12	1575	c.1282C>G	c.(1282-1284)Cag>Gag	p.Q428E	ASXL2_ENST00000404843.1_Missense_Mutation_p.Q168E|ASXL2_ENST00000336112.4_Missense_Mutation_p.Q400E|ASXL2_ENST00000272341.4_Missense_Mutation_p.Q168E			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	428					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding	p.Q168E(1)|p.Q428E(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACTCTGACTGGGAGACTACT	0.458000													9	447					0	0	3.86212e-05	0	0
HTR3E	285242	broad.mit.edu	37	3	183818191	183818191	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr3:183818191C>A	ENST00000335304.2	+	1	225	c.31C>A	c.(31-33)Cca>Aca	p.P11T	HTR3E-AS1_ENST00000431427.1_RNA|HTR3E_ENST00000425359.2_Intron|HTR3E_ENST00000440596.2_Missense_Mutation_p.P11T|HTR3E_ENST00000436361.2_Missense_Mutation_p.P11T|HTR3E_ENST00000415389.2_Intron	NM_182589.2|NM_198314.2	NP_872395.2|NP_938056.1	A5X5Y0	5HT3E_HUMAN	5-hydroxytryptamine (serotonin) receptor 3E, ionotropic	0						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	p.P11T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			ACGGGCGACCCCACGCCCTGC	0.483000													62	98					5.89852e-23	1.66973e-21	0.000147903	1	0
SPEN	23013	broad.mit.edu	37	1	16257949	16257949	+	Silent	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:16257949C>G	ENST00000375759.3	+	11	5418	c.5214C>G	c.(5212-5214)ccC>ccG	p.P1738P		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1738					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	p.P1738P(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CTCCAACTCCCGGGGCCTCGT	0.562000													4	176					0	0	1.23904e-05	0	0
ME2	4200	broad.mit.edu	37	18	48450553	48450553	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr18:48450553T>C	ENST00000321341.5	+	11	1414	c.1142T>C	c.(1141-1143)gTg>gCg	p.V381A	ME2_ENST00000382927.3_Missense_Mutation_p.V381A	NM_002396.4	NP_002387.1	P23368	MAOM_HUMAN	malic enzyme 2, NAD(+)-dependent, mitochondrial	381					malate metabolic process	mitochondrial matrix	electron carrier activity|malate dehydrogenase (decarboxylating) activity|malate dehydrogenase (oxaloacetate-decarboxylating) activity|metal ion binding|NAD binding	p.V381A(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3)	23		Colorectal(6;0.0273)|all_epithelial(6;0.118)		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)	NADH(DB00157)	GAAGATGCAGTGAATATACTG	0.358000													24	63					0	0	0.000117367	0	0
STAC3	246329	broad.mit.edu	37	12	57642836	57642836	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr12:57642836G>C	ENST00000332782.2	-	3	523	c.322C>G	c.(322-324)Cgg>Ggg	p.R108G	STAC3_ENST00000546246.2_Intron|STAC3_ENST00000554578.1_Missense_Mutation_p.R69G	NM_145064.1	NP_659501.1	Q96MF2	STAC3_HUMAN	SH3 and cysteine rich domain 3	108					intracellular signal transduction		identical protein binding|metal ion binding	p.R108G(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(2)|skin(1)	18						ACAATCATCCGGGCACAGACA	0.483000													5	100					0	0	1.23904e-05	0	0
CD1C	911	broad.mit.edu	37	1	158261152	158261152	+	Missense_Mutation	SNP	G	G	C	rs114534381	byFrequency	TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:158261152G>C	ENST00000368170.3	+	2	569	c.290G>C	c.(289-291)cGg>cCg	p.R97P		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	97					antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					GGATTAACTCGGGAGATTCAA	0.363000													5	136					0	0	3.59834e-05	0	0
AOC1	26	broad.mit.edu	37	7	150555928	150555928	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr7:150555928G>A	ENST00000493429.1	+	5	2232	c.1648G>A	c.(1648-1650)Gtc>Atc	p.V550I	AOC1_ENST00000360937.4_Missense_Mutation_p.V550I|AOC1_ENST00000416793.2_Missense_Mutation_p.V550I|AOC1_ENST00000480582.1_3'UTR|AOC1_ENST00000467291.1_Missense_Mutation_p.V550I					amine oxidase, copper containing 1									p.V550I(1)									ACACCGCGTGGTCCAGCCAAC	0.577000													19	31					0	0	0.000229342	0	0
CST9L	128821	broad.mit.edu	37	20	23549030	23549030	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr20:23549030C>A	ENST00000376979.3	-	1	356	c.58G>T	c.(58-60)Ggc>Tgc	p.G20C		NM_080610.2	NP_542177.1	Q9H4G1	CST9L_HUMAN	cystatin 9-like	20						extracellular region	cysteine-type endopeptidase inhibitor activity	p.G20C(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8	Colorectal(13;0.0431)|Lung NSC(19;0.235)					ATCTGGGAGCCTAAGAGAAGC	0.582000													10	18					3.86212e-05	0.000913839	3.86212e-05	1	0
EVC	2121	broad.mit.edu	37	4	5803796	5803796	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr4:5803796A>C	ENST00000382674.2	+	16	2608	c.2424A>C	c.(2422-2424)aaA>aaC	p.K808N	EVC_ENST00000264956.6_Missense_Mutation_p.K808N			P57679	EVC_HUMAN	Ellis van Creveld syndrome	808					muscle organ development	integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				AGGAGAGAAAACTGCAGCACC	0.577000													6	84					0	0	0.000274275	0	0
CBX8	57332	broad.mit.edu	37	17	77768512	77768512	+	Silent	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr17:77768512C>G	ENST00000269385.4	-	5	1209	c.1092G>C	c.(1090-1092)acG>acC	p.T364T		NM_020649.2	NP_065700.1	Q9HC52	CBX8_HUMAN	chromobox homolog 8	364					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear chromatin|PcG protein complex	methylated histone residue binding	p.T364T(1)		breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)	14			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			AGGTCACGTCCGTGACCACCA	0.547000													4	127					0	0	1.23904e-05	0	0
CNTN1	1272	broad.mit.edu	37	12	41316191	41316191	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr12:41316191G>C	ENST00000551295.2	+	5	478	c.361G>C	c.(361-363)Ggg>Cgg	p.G121R	CNTN1_ENST00000547849.1_Missense_Mutation_p.G121R|CNTN1_ENST00000547702.1_Missense_Mutation_p.G121R|CNTN1_ENST00000347616.1_Missense_Mutation_p.G121R|CNTN1_ENST00000360099.3_Missense_Mutation_p.G121R|CNTN1_ENST00000348761.2_Missense_Mutation_p.G110R	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	121	Ig-like C2-type 1.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane		p.G121R(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				TAATAACTACGGGATGGTCAG	0.398000													4	66					0	0	1.23904e-05	0	0
SUCNR1	56670	broad.mit.edu	37	3	151599205	151599205	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr3:151599205C>A	ENST00000362032.4	+	3	979	c.874C>A	c.(874-876)Cct>Act	p.P292T	RP11-454C18.2_ENST00000475855.1_RNA|RP11-454C18.2_ENST00000483843.2_RNA	NM_033050.4	NP_149039.2	Q9BXA5	SUCR1_HUMAN	succinate receptor 1	292						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.P292T(1)		endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		Succinic acid(DB00139)	TGTCATCAACCCTGTCTTCTA	0.463000													43	100					1.7489e-18	4.81431e-17	0.000106405	1	0
TCF23	150921	broad.mit.edu	37	2	27375691	27375691	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr2:27375691C>A	ENST00000296096.5	+	3	731	c.601C>A	c.(601-603)Ctc>Atc	p.L201I		NM_175769.2	NP_786951.1	Q7RTU1	TCF23_HUMAN	transcription factor 23	201					cell differentiation|muscle organ development|regulation of transcription, DNA-dependent	nucleus		p.L201I(1)		large_intestine(2)|lung(11)|prostate(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCAGATGCTCTCCTTTCCAC	0.537000													64	81					2.165e-29	6.34703e-28	0.000147903	1	0
AASS	10157	broad.mit.edu	37	7	121717923	121717923	+	Silent	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr7:121717923G>C	ENST00000393376.1	-	22	2726	c.2631C>G	c.(2629-2631)ccC>ccG	p.P877P	AASS_ENST00000473553.1_5'UTR|AASS_ENST00000417368.2_Silent_p.P877P			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	877	Saccharopine dehydrogenase.				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity	p.P877P(1)		autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54					L-Glutamic Acid(DB00142)|NADH(DB00157)	CCATGGCGGTGGGTAACCCCA	0.463000													6	276					0	0	8.12818e-05	0	0
ATG13	9776	broad.mit.edu	37	11	46686437	46686437	+	Silent	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr11:46686437G>C	ENST00000434074.1	+	11	1517	c.828G>C	c.(826-828)ctG>ctC	p.L276L	ATG13_ENST00000359513.4_Silent_p.L276L|ATG13_ENST00000451945.1_Intron|ATG13_ENST00000312040.4_Silent_p.L276L|ATG13_ENST00000526508.1_Silent_p.L276L|ATG13_ENST00000524625.1_Intron|ATG13_ENST00000528494.1_Silent_p.L309L|ATG13_ENST00000530500.1_Intron|ATG13_ENST00000529655.1_Intron	NM_001205120.1	NP_001192049.1	O75143	ATG13_HUMAN	autophagy related 13	276					autophagic vacuole assembly	cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding	p.L309L(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	15						CTGCTGCCCTGGGCGTTGGAT	0.483000													6	241					0	0	0.000157383	0	0
GSTA5	221357	broad.mit.edu	37	6	52705574	52705574	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr6:52705574C>G	ENST00000370989.1	-	2	196	c.38G>C	c.(37-39)cGg>cCg	p.R13P	GSTA5_ENST00000475052.1_5'UTR|GSTA5_ENST00000284562.2_Missense_Mutation_p.R13P			Q7RTV2	GSTA5_HUMAN	glutathione S-transferase alpha 5	13	GST N-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity	p.R13P(1)		endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Lung NSC(77;0.0912)				Glutathione(DB00143)	CATACTGCCCCGTGCATTGGA	0.463000													4	102					0	0	1.23904e-05	0	0
PNPLA1	285848	broad.mit.edu	37	6	36259267	36259267	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr6:36259267C>G	ENST00000394571.2	+	2	376	c.376C>G	c.(376-378)Cgc>Ggc	p.R126G	PNPLA1_ENST00000388715.3_Missense_Mutation_p.R31G|PNPLA1_ENST00000312917.5_Missense_Mutation_p.R31G	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN	patatin-like phospholipase domain containing 1	126	Patatin.				lipid catabolic process		hydrolase activity	p.R31G(1)|p.R126G(1)		breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						GAGCCTCACCCGCTTAACGGA	0.602000													3	16					0	0	6.4e-05	0	0
PCDHB5	26167	broad.mit.edu	37	5	140516259	140516259	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr5:140516259G>T	ENST00000231134.5	+	1	1460	c.1243G>T	c.(1243-1245)Gag>Tag	p.E415*		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		415	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.E415*(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGCCAAGCCGAGTACAACAT	0.502000													31	21					6.84511e-11	1.7596e-09	8.91981e-05	1	0
TTN	7273	broad.mit.edu	37	2	179539774	179539774	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr2:179539774G>C	ENST00000589042.1	-	150	34828	c.34604C>G	c.(34603-34605)cCa>cGa	p.P11535R	TTN_ENST00000591111.1_Missense_Mutation_p.P11161R|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P10234R|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11298	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.P10234R(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACCTTCAACTGGTAGAACTTC	0.323000													4	57					0	0	0.00024832	0	0
PRSS1	5644	broad.mit.edu	37	7	142459785	142459785	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr7:142459785G>A	ENST00000486171.1	+	4	420	c.403G>A	c.(403-405)Gcc>Acc	p.A135T	PRSS1_ENST00000311737.7_Missense_Mutation_p.A121T			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	121	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity	p.A121T(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			AGTAATCAACGCCCGCGTGTC	0.572000													55	67					0	0	0.000147903	0	0
RBM6	10180	broad.mit.edu	37	3	50091820	50091820	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr3:50091820C>A	ENST00000443081.1	+	8	2208	c.1289C>A	c.(1288-1290)cCa>cAa	p.P430Q	RBM6_ENST00000441115.1_3'UTR|RBM6_ENST00000539992.1_5'UTR|RBM6_ENST00000266022.4_Missense_Mutation_p.P562Q|RBM6_ENST00000422955.1_Missense_Mutation_p.P40Q|RBM6_ENST00000442092.1_Missense_Mutation_p.P40Q			P78332	RBM6_HUMAN	RNA binding motif protein 6	562					RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding	p.P562Q(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		TGCAAGAACCCAAGAGAAGGT	0.383000													11	271					3.07112e-06	7.48197e-05	6.40141e-05	1	0
ELF3	1999	broad.mit.edu	37	1	201981142	201981142	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:201981142A>T	ENST00000359651.3	+	2	3413	c.221A>T	c.(220-222)gAc>gTc	p.D74V	RP11-510N19.5_ENST00000504773.1_RNA|ELF3_ENST00000495848.1_3'UTR|ELF3_ENST00000367284.5_Missense_Mutation_p.D74V|ELF3_ENST00000367283.3_Missense_Mutation_p.D74V			P78545	ELF3_HUMAN	E74-like factor 3 (ets domain transcription factor, epithelial-specific )	74	PNT.				epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.D74V(2)		breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						CAGGTTCTGGACTGGATCAGC	0.582000													99	47					0	0	0.000147903	0	0
BOD1L1	259282	broad.mit.edu	37	4	13605302	13605302	+	Silent	SNP	C	C	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr4:13605302C>T	ENST00000040738.5	-	10	3357	c.3222G>A	c.(3220-3222)cgG>cgA	p.R1074R		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	1074							DNA binding	p.R1074R(1)									AGCTTCCTCTCCGATTTTCGC	0.418000													27	50					0	0	7.16444e-05	0	0
HAT1	8520	broad.mit.edu	37	2	172823010	172823010	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr2:172823010C>G	ENST00000264108.4	+	7	728	c.692C>G	c.(691-693)cCa>cGa	p.P231R	HAT1_ENST00000392584.1_Missense_Mutation_p.P146R|SLC25A12_ENST00000472748.1_Intron	NM_003642.3	NP_003633.1	O14929	HAT1_HUMAN	histone acetyltransferase 1	231					chromatin silencing at telomere|DNA packaging	cytoplasm|nuclear matrix|nucleoplasm	histone acetyltransferase activity|protein binding	p.P231R(1)		breast(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|prostate(1)	19			OV - Ovarian serous cystadenocarcinoma(117;0.216)			TATGTGTACCCAGACAAAACC	0.403000													4	90					0	0	1.23904e-05	0	0
RIC8A	60626	broad.mit.edu	37	11	209514	209514	+	Silent	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr11:209514G>C	ENST00000526104.1	+	3	1584	c.240G>C	c.(238-240)ctG>ctC	p.L80L	RIC8A_ENST00000325207.5_Silent_p.L80L|RIC8A_ENST00000527696.1_Silent_p.L74L			Q9NPQ8	RIC8A_HUMAN	RIC8 guanine nucleotide exchange factor A	80						cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity	p.L80L(1)		endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)	13		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		GCAACTGCCTGGACCCGTTCA	0.632000													4	53					0	0	1.23904e-05	0	0
CNTLN	54875	broad.mit.edu	37	9	17464545	17464545	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr9:17464545A>G	ENST00000380647.3	+	21	3539	c.3455A>G	c.(3454-3456)gAc>gGc	p.D1152G	CNTLN_ENST00000262360.5_Missense_Mutation_p.D1152G|CNTLN_ENST00000425824.1_Missense_Mutation_p.D1152G			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	1152						centriole|membrane	two-component sensor activity	p.D1152G(1)		breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		TTGATAGAGGACTTGAAATTT	0.299000													107	62					0	0	0.000147903	0	0
TENM1	10178	broad.mit.edu	37	X	123554306	123554306	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chrX:123554306G>C	ENST00000422452.2	-	25	4900	c.4837C>G	c.(4837-4839)Caa>Gaa	p.Q1613E	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000371130.3_Missense_Mutation_p.Q1606E	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1									p.Q1608E(1)									CAGTATACTTGTCCGCCAGGC	0.522000													21	3					0	0	0.000175454	0	0
OR2T4	127074	broad.mit.edu	37	1	248525551	248525551	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:248525551C>A	ENST00000366475.1	+	1	669	c.669C>A	c.(667-669)gaC>gaA	p.D223E		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	223					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D223E(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	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)			CCTGCTCAGACACCTCACTCT	0.473000													126	58					1.41866e-75	4.30338e-74	0.000147903	1	0
AMER1	139285	broad.mit.edu	37	X	63411863	63411863	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chrX:63411863C>A	ENST00000330258.3	-	2	1576	c.1304G>T	c.(1303-1305)gGc>gTc	p.G435V	AMER1_ENST00000403336.1_Missense_Mutation_p.G435V|AMER1_ENST00000374869.3_Missense_Mutation_p.G435V	NM_152424.3	NP_689637.3			APC membrane recruitment protein 1									p.0?(67)|p.G435V(2)									GAGCATGTAGCCGTGGTGGCC	0.527000													50	16					2.23322e-12	5.80471e-11	0.000147903	1	0
PITPNM2	57605	broad.mit.edu	37	12	123481914	123481914	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr12:123481914G>C	ENST00000280562.5	-	10	1635	c.1430C>G	c.(1429-1431)cCc>cGc	p.P477R	PITPNM2_ENST00000392428.1_Missense_Mutation_p.P198R|PITPNM2_ENST00000320201.4_Missense_Mutation_p.P477R|PITPNM2_ENST00000542749.1_Missense_Mutation_p.P477R			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	477					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding	p.P477R(1)		NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		GGGCGGGCAGGGCACCAGGCG	0.647000													21	54					0	0	9.22233e-05	0	0
PARP6	56965	broad.mit.edu	37	15	72549734	72549734	+	Silent	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr15:72549734C>G	ENST00000569795.1	-	13	1641	c.954G>C	c.(952-954)ctG>ctC	p.L318L	PARP6_ENST00000260376.7_Silent_p.L318L|PARP6_ENST00000287196.9_Silent_p.L318L|PARP6_ENST00000413097.2_5'UTR			Q2NL67	PARP6_HUMAN	poly (ADP-ribose) polymerase family, member 6	318							NAD+ ADP-ribosyltransferase activity	p.L318L(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	18						ACATGACGCCCAGTGTGTAGA	0.522000													5	146					0	0	8.12818e-05	0	0
RNF216	54476	broad.mit.edu	37	7	5662579	5662579	+	Missense_Mutation	SNP	C	C	G	rs150725128		TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr7:5662579C>G	ENST00000425013.2	-	17	2737	c.2513G>C	c.(2512-2514)cGg>cCg	p.R838P	RNF216_ENST00000469375.1_5'UTR|RNF216_ENST00000389902.3_Missense_Mutation_p.R895P	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	838	Pro-rich.				apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding	p.R895P(1)	FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		ATAGTTGACCCGCACGTTGGG	0.642000													5	108					0	0	1.23904e-05	0	0
GAN	8139	broad.mit.edu	37	16	81388139	81388139	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr16:81388139C>G	ENST00000248272.3	+	3	574	c.412C>G	c.(412-414)Cgt>Ggt	p.R138G		NM_022041.3	NP_071324.1	Q9H2C0	GAN_HUMAN	gigaxonin	138	BACK.		R -> H (in GAN).		cell death	cytoplasm|neurofilament	protein binding	p.R138G(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)	25		Colorectal(91;0.153)				TATTGGTATCCGTGACTTTGC	0.483000													4	186					0	0	0.00024832	0	0
MUC16	94025	broad.mit.edu	37	19	9065289	9065289	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr19:9065289A>G	ENST00000397910.4	-	3	22360	c.22157T>C	c.(22156-22158)gTg>gCg	p.V7386A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7388	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.V7386A(2)|p.V3019A(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGTTTCTTCCACAGGGAGAGA	0.502000													14	9					0	0	0.000151284	0	0
ATP8B2	57198	broad.mit.edu	37	1	154317908	154317908	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:154317908G>C	ENST00000368489.3	+	23	2680	c.2680G>C	c.(2680-2682)Ggg>Cgg	p.G894R		NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	880					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.G894R(1)	IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GCTGGTGCATGGGCGCTGGTC	0.527000											OREG0013835	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	417					0	0	0.000157383	0	0
KLHL6	89857	broad.mit.edu	37	3	183211960	183211960	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr3:183211960C>A	ENST00000341319.3	-	5	1292	c.1257G>T	c.(1255-1257)ttG>ttT	p.L419F		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	419								p.L419F(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			CCTTGCCACCCAACACCACCA	0.448000													9	218					0.000274275	0.0062264	0.000274275	1	0
FLNC	2318	broad.mit.edu	37	7	128478663	128478663	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr7:128478663G>A	ENST00000325888.8	+	8	1478	c.1217G>A	c.(1216-1218)gGc>gAc	p.G406D	FLNC_ENST00000346177.6_Missense_Mutation_p.G406D	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	406					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	p.G406D(1)		biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GCAGGGGCCGGCACTGGCGAT	0.667000													36	62					0	0	0.000374591	0	0
MMP20	9313	broad.mit.edu	37	11	102477386	102477386	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr11:102477386C>T	ENST00000260228.2	-	6	845	c.833G>A	c.(832-834)gGg>gAg	p.G278E	MMP20_ENST00000544938.1_5'UTR	NM_004771.3	NP_004762.2	O60882	MMP20_HUMAN	matrix metallopeptidase 20	278					proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding	p.G278E(1)		endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)		AGTGGGCTTCCCCAGGAATAC	0.537000													36	63					0	0	0.000319135	0	0
WDR19	57728	broad.mit.edu	37	4	39219646	39219646	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr4:39219646G>C	ENST00000399820.3	+	14	1554	c.1400G>C	c.(1399-1401)cGg>cCg	p.R467P	WDR19_ENST00000506503.1_Missense_Mutation_p.G466R|WDR19_ENST00000288634.7_Missense_Mutation_p.R307P	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	467					cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding	p.R467P(2)		large_intestine(1)	1						CGTGAGACTCGGCTTTTCCCA	0.373000													4	285					0	0	0.00024832	0	0
PLXNA4	91584	broad.mit.edu	37	7	131864552	131864552	+	Silent	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr7:131864552C>A	ENST00000359827.3	-	20	4730	c.3768G>T	c.(3766-3768)gtG>gtT	p.V1256V	PLXNA4_ENST00000321063.4_Silent_p.V1256V			Q9HCM2	PLXA4_HUMAN	plexin A4	1256						integral to membrane|intracellular|plasma membrane		p.V1256V(2)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						AGGCAATGAGCACGGCCACGA	0.617000													10	19					5.50884e-06	0.000133742	0.00010058	1	0
FAM186B	84070	broad.mit.edu	37	12	49981528	49981528	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr12:49981528C>T	ENST00000257894.2	-	7	2703	c.2542G>A	c.(2542-2544)Ggg>Agg	p.G848R	FAM186B_ENST00000544141.1_Intron|FAM186B_ENST00000551047.1_Intron	NM_032130.2	NP_115506.1	Q8IYM0	F186B_HUMAN	family with sequence similarity 186, member B	848						protein complex		p.G848R(1)		breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						ATCTGCTTCCCCTGTTGGCTG	0.557000													17	22					0	0	9.7654e-05	0	0
SSX3	10214	broad.mit.edu	37	X	48211539	48211539	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chrX:48211539G>T	ENST00000298396.2	-	5	378	c.326C>A	c.(325-327)cCg>cAg	p.P109Q	SSX3_ENST00000376893.3_Missense_Mutation_p.P109Q|SSX3_ENST00000376895.1_Missense_Mutation_p.P21Q	NM_021014.2	NP_066294.1	Q99909	SSX3_HUMAN	synovial sarcoma, X breakpoint 3	109					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	p.P109Q(2)		endometrium(3)|large_intestine(1)|lung(9)	13						ACTCACCTTCGGGAAGATTCC	0.443000													8	113					3.86212e-05	0.000913839	3.86212e-05	1	0
PIGM	93183	broad.mit.edu	37	1	160000712	160000712	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:160000712G>C	ENST00000368090.2	-	1	1071	c.818C>G	c.(817-819)cCg>cGg	p.P273R		NM_145167.2	NP_660150.1	Q9H3S5	PIGM_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class M	273					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane		p.P273R(1)		kidney(1)|large_intestine(4)|lung(9)|ovary(2)|skin(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GTAGAAGTACGGAGAAAAGTT	0.463000													5	205					0	0	1.23904e-05	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117375073	117375073	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr7:117375073G>C	ENST00000160373.3	-	16	3861	c.3770C>G	c.(3769-3771)tCc>tGc	p.S1257C		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1257								p.S1257C(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		CAGCAAGTCGGAGCCCTGGAG	0.527000													15	20					0	0	5.01169e-05	0	0
RYR2	6262	broad.mit.edu	37	1	237791344	237791344	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:237791344G>T	ENST00000366574.2	+	41	6721	c.6404G>T	c.(6403-6405)gGc>gTc	p.G2135V	RYR2_ENST00000542537.1_Missense_Mutation_p.G2119V|RYR2_ENST00000360064.6_Missense_Mutation_p.G2133V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2135	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.G2133V(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GTGAGAATGGGCAAAGAAGAA	0.433000													43	20					1.11015e-26	3.20751e-25	0.000147903	1	0
BRD8	10902	broad.mit.edu	37	5	137488277	137488277	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr5:137488277G>C	ENST00000254900.5	-	21	3121	c.2750C>G	c.(2749-2751)cCg>cGg	p.P917R		NM_139199.1	NP_631938.1	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	917					cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TTCTCTCTCCGGGCTGCTTTC	0.552000													6	191					0	0	0.000157383	0	0
NLRP3	114548	broad.mit.edu	37	1	247588607	247588607	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:247588607T>A	ENST00000366497.2	+	4	2642	c.1862T>A	c.(1861-1863)cTg>cAg	p.L621Q	NLRP3_ENST00000391828.3_Missense_Mutation_p.L621Q|NLRP3_ENST00000336119.3_Missense_Mutation_p.L621Q|NLRP3_ENST00000391827.2_Missense_Mutation_p.L621Q|NLRP3_ENST00000348069.2_Missense_Mutation_p.L621Q|NLRP3_ENST00000366496.2_Missense_Mutation_p.L621Q|NLRP3_ENST00000474792.1_3'UTR	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	621					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	p.L621Q(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GCTAAAAAGCTGCAGATCCAG	0.473000													38	15					0	0	0.000191422	0	0
MTR	4548	broad.mit.edu	37	1	237024423	237024423	+	Splice_Site	SNP	A	A	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:237024423A>T	ENST00000366577.5	+	20	2437		c.e20-1		MTR_ENST00000535889.1_Intron	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase						nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding	p.?(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	tgtcttttttAGGGCATTGAA	0.323000													7	24					0	0	3.86212e-05	0	0
POLR2C	5432	broad.mit.edu	37	16	57504902	57504902	+	Silent	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr16:57504902G>T	ENST00000219252.5	+	9	1037	c.699G>T	c.(697-699)gtG>gtT	p.V233V		NM_032940.2	NP_116558.1	P19387	RPB3_HUMAN	polymerase (RNA) II (DNA directed) polypeptide C, 33kDa	233					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity	p.V233V(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	10						ACTACAATGTGGAGTCCTGTG	0.532000													7	116					0.000274275	0.0062264	0.000274275	1	0
POM121C	100101267	broad.mit.edu	37	7	75053400	75053400	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr7:75053400G>T	ENST00000453279.2	-	12	1844	c.980C>A	c.(979-981)cCa>cAa	p.P327Q	POM121C_ENST00000473168.1_5'UTR|POM121C_ENST00000257665.5_Missense_Mutation_p.P569Q	NM_001099415.1	NP_001092885.1	A8CG34	P121C_HUMAN	POM121 transmembrane nucleoporin C	569	Pore side (Potential).|Required for targeting to the nucleus and nuclear pore complex.|Ser-rich.				mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding	p.P327Q(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						GTTGGTGCTTGGGGCCAGGAG	0.607000													9	168					1.58986e-06	3.88683e-05	3.86212e-05	1	0
KIAA2026	158358	broad.mit.edu	37	9	5924840	5924840	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr9:5924840C>A	ENST00000399933.3	-	7	2503	c.2504G>T	c.(2503-2505)cGc>cTc	p.R835L	KIAA2026_ENST00000381461.2_Missense_Mutation_p.R805L	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	835								p.R10L(1)|p.R835L(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		TTTCTTCAGGCGGCTCCTGAA	0.308000													37	25					8.73648e-17	2.36307e-15	0.000132358	1	0
RRAD	6236	broad.mit.edu	37	16	66957790	66957790	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr16:66957790C>G	ENST00000299759.6	-	3	653	c.403G>C	c.(403-405)Gga>Cga	p.G135R	RRAD_ENST00000420652.1_Missense_Mutation_p.G135R			P55042	RAD_HUMAN	Ras-related associated with diabetes	135					small GTPase mediated signal transduction	plasma membrane	calmodulin binding|GTP binding|GTPase activity	p.G135*(1)|p.G135R(1)		endometrium(2)|kidney(4)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198)		GCCTCTTCTCCGTCCACTACA	0.562000													4	151					0	0	1.23904e-05	0	0
EXOSC1	51013	broad.mit.edu	37	10	99203015	99203015	+	Silent	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr10:99203015C>G	ENST00000370902.3	-	3	232	c.201G>C	c.(199-201)gtG>gtC	p.V67V	EXOSC1_ENST00000485122.2_Silent_p.V67V|EXOSC1_ENST00000370885.4_Intron|EXOSC1_ENST00000471049.1_5'UTR|EXOSC1_ENST00000370886.5_Silent_p.V67V	NM_016046.3	NP_057130.1	Q9Y3B2	EXOS1_HUMAN	exosome component 1	67	S1 motif.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus	protein binding|RNA binding	p.V67V(1)		breast(1)|endometrium(1)|lung(5)	7		Renal(717;0.000147)|Colorectal(252;0.00205)|Ovarian(717;0.00965)		all cancers(201;8.29e-42)|Epithelial(162;5.7e-33)|BRCA - Breast invasive adenocarcinoma(275;0.000315)|Kidney(138;0.000832)|KIRC - Kidney renal clear cell carcinoma(50;0.00269)|STAD - Stomach adenocarcinoma(243;0.202)		CAATAGCTCCCACATCTGGCA	0.458000													6	266					0	0	8.12818e-05	0	0
SPATA19	219938	broad.mit.edu	37	11	133715330	133715330	+	Silent	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr11:133715330C>A	ENST00000299140.3	-	1	66	c.12G>T	c.(10-12)acG>acT	p.T4T	SPATA19_ENST00000532889.1_Silent_p.T4T	NM_174927.1	NP_777587.1	Q7Z5L4	SPT19_HUMAN	spermatogenesis associated 19	4					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrial outer membrane		p.T4T(1)		cervix(1)|endometrium(2)|large_intestine(2)|lung(5)|prostate(1)	11	all_hematologic(175;0.127)	all_cancers(12;5.59e-17)|all_epithelial(12;2.65e-12)|all_lung(97;0.00045)|Lung NSC(97;0.000861)|Breast(109;0.000873)|Medulloblastoma(222;0.0425)|Esophageal squamous(93;0.0844)|all_neural(223;0.117)		Epithelial(10;4.36e-10)|all cancers(11;7.1e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00286)|Lung(977;0.207)		CAATCCATGTCGTAATTATCA	0.463000													23	55					9.86323e-18	2.68341e-16	7.16444e-05	1	0
ZNF134	7693	broad.mit.edu	37	19	58132703	58132703	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr19:58132703G>C	ENST00000396161.5	+	3	1526	c.1216G>C	c.(1216-1218)Ggg>Cgg	p.G406R		NM_003435.3	NP_003426.3	P52741	ZN134_HUMAN	zinc finger protein 134	406						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G406R(1)|p.G406W(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(3)|prostate(1)	11		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		CAGTGAATGTGGGAAGGCCTA	0.478000													4	94					0	0	0.00024832	0	0
IRS2	8660	broad.mit.edu	37	13	110437749	110437749	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr13:110437749G>C	ENST00000375856.3	-	1	1166	c.652C>G	c.(652-654)Cgt>Ggt	p.R218G		NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	218	IRS-type PTB.				fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus	cytosol|plasma membrane	insulin receptor binding|signal transducer activity	p.R218G(1)		kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			AGGCACAGACGGTACACCCCC	0.667000													3	21					0	0	6.4e-05	0	0
OR2J2	26707	broad.mit.edu	37	6	29141763	29141763	+	Silent	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr6:29141763G>C	ENST00000377167.2	+	1	453	c.351G>C	c.(349-351)gtG>gtC	p.V117V		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	117					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V117V(1)		endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						TCCTACTGGTGGTGATGTCAT	0.488000													6	320					0	0	3.59834e-05	0	0
GPHN	10243	broad.mit.edu	37	14	67589024	67589024	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr14:67589024C>T	ENST00000478722.1	+	17	2799	c.1678C>T	c.(1678-1680)Cgt>Tgt	p.R560C	GPHN_ENST00000305960.9_Missense_Mutation_p.R496C|GPHN_ENST00000544752.2_3'UTR|GPHN_ENST00000543237.1_Missense_Mutation_p.R573C|GPHN_ENST00000315266.5_Missense_Mutation_p.R527C	NM_020806.4	NP_065857.1	Q9NQX3	GEPH_HUMAN	gephyrin	527	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	p.R560C(1)		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)		AGACAGCAATCGTTCAACTCT	0.388000			T	MLL	AL								29	16					0	0	0.000339439	0	0
TBC1D9	23158	broad.mit.edu	37	4	141543675	141543675	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr4:141543675C>G	ENST00000442267.2	-	21	3549	c.3475G>C	c.(3475-3477)Gac>Cac	p.D1159H		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	1159						intracellular	calcium ion binding|Rab GTPase activator activity	p.D1159H(2)		endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				ATGGAGCTGTCGTCCTTGGTG	0.622000													36	49					0	0	0.000270559	0	0
AARS	16	broad.mit.edu	37	16	70305819	70305819	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr16:70305819C>T	ENST00000261772.8	-	5	679	c.536G>A	c.(535-537)gGt>gAt	p.G179D		NM_001605.2	NP_001596.2	P49588	SYAC_HUMAN	alanyl-tRNA synthetase	179					alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding	p.G179D(1)		breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)	L-Alanine(DB00160)	GCCCGTGTCACCCATCTCCCA	0.542000													29	53					0	0	0.000279167	0	0
KIF26B	55083	broad.mit.edu	37	1	245850296	245850296	+	Silent	SNP	C	C	G	rs114792430	by1000genomes	TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:245850296C>G	ENST00000366518.4	+	9	2972	c.2868C>G	c.(2866-2868)ccC>ccG	p.P956P	KIF26B_ENST00000407071.2_Silent_p.P1337P			Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1337					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.P1337P(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			AGGCCAGCCCCGACAACTTGC	0.562000													3	20					0	0	6.4e-05	0	0
HIBCH	26275	broad.mit.edu	37	2	191109623	191109623	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr2:191109623T>A	ENST00000392332.3	-	11	1020	c.881A>T	c.(880-882)gAg>gTg	p.E294V	HIBCH_ENST00000410045.1_Missense_Mutation_p.E71V|HIBCH_ENST00000359678.5_Missense_Mutation_p.E294V			Q6NVY1	HIBCH_HUMAN	3-hydroxyisobutyryl-CoA hydrolase	294					branched chain family amino acid catabolic process	mitochondrial matrix	3-hydroxyisobutyryl-CoA hydrolase activity|protein binding	p.E294V(1)		NS(1)|breast(2)|endometrium(1)|large_intestine(1)|lung(5)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(117;0.000586)|Epithelial(96;0.0286)|all cancers(119;0.0814)			CTTCAATTGCTCTAGGGCAAA	0.398000													64	114					0	0	0.000147903	0	0
ZNF652	22834	broad.mit.edu	37	17	47390144	47390144	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr17:47390144G>C	ENST00000362063.2	-	3	1282	c.964C>G	c.(964-966)Cat>Gat	p.H322D	ZNF652_ENST00000430262.2_Missense_Mutation_p.H322D	NM_014897.2	NP_055712.1	Q9Y2D9	ZN652_HUMAN	zinc finger protein 652	322					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.H322D(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)			GCATATCCATGGACGATCTTG	0.368000													4	66					0	0	1.23904e-05	0	0
SYT1	6857	broad.mit.edu	37	12	79689968	79689968	+	Silent	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr12:79689968C>A	ENST00000261205.4	+	7	1251	c.594C>A	c.(592-594)gtC>gtA	p.V198V	SYT1_ENST00000393240.3_Silent_p.V198V|SYT1_ENST00000457153.2_Silent_p.V195V|SYT1_ENST00000552744.1_Silent_p.V198V	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	198	C2 1.|Phospholipid binding (Probable).				detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity	p.V198V(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						AGACAAAAGTCCACCGAAAAA	0.388000													27	55					1.12875e-08	2.83893e-07	0.000147802	1	0
HSPA4L	22824	broad.mit.edu	37	4	128753935	128753935	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr4:128753935C>A	ENST00000296464.3	+	19	2837	c.2426C>A	c.(2425-2427)cCa>cAa	p.P809Q	HSPA4L_ENST00000508776.1_Missense_Mutation_p.P809Q|HSPA4L_ENST00000439123.2_Missense_Mutation_p.P840Q|HSPA4L_ENST00000505726.1_Missense_Mutation_p.P783Q	NM_014278.2	NP_055093.2	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like	809					protein folding|response to unfolded protein	cytoplasm|nucleus	ATP binding|protein binding	p.P809Q(1)		central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						CACAATGGCCCAATGGATGGA	0.403000													8	113					0.000157383	0.00364379	0.000157383	1	0
EFCAB2	84288	broad.mit.edu	37	1	245250572	245250572	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:245250572G>C	ENST00000366523.1	+	8	664	c.399G>C	c.(397-399)atG>atC	p.M133I	EFCAB2_ENST00000487845.1_Intron|EFCAB2_ENST00000366522.2_Intron|EFCAB2_ENST00000447569.2_Intron	NM_032328.3	NP_115704.1	Q5VUJ9	EFCB2_HUMAN	EF-hand calcium binding domain 2	0							calcium ion binding	p.M133I(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|stomach(2)	13	all_cancers(71;2.93e-06)|all_epithelial(71;2.13e-05)|all_lung(81;0.0337)|Lung NSC(105;0.0472)|Ovarian(71;0.0584)|Breast(184;0.0716)|all_neural(11;0.0982)		OV - Ovarian serous cystadenocarcinoma(106;0.015)			AAGAGGAAATGGAAGAAATGT	0.313000													4	78					0	0	3.59834e-05	0	0
IGHV3-13	28449	broad.mit.edu	37	14	106586578	106586578	+	RNA	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr14:106586578C>G	ENST00000390602.2	-	0	89																											CAGCTCAGCCCCAACTCCATG	0.488000													5	133					0	0	3.59834e-05	0	0
TARDBP	23435	broad.mit.edu	37	1	11080565	11080565	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:11080565G>C	ENST00000240185.3	+	5	737	c.623G>C	c.(622-624)cGg>cCg	p.R208P	TARDBP_ENST00000315091.3_Missense_Mutation_p.R208P|TARDBP_ENST00000439080.2_Missense_Mutation_p.R92P	NM_007375.3	NP_031401.1	Q13148	TADBP_HUMAN	TAR DNA binding protein	208	RRM 2.				3'-UTR-mediated mRNA stabilization|cell death|mRNA processing|negative regulation by host of viral transcription|RNA splicing|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|sequence-specific DNA binding transcription factor activity	p.R208P(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)	11	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0578)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.37e-07)|COAD - Colon adenocarcinoma(227;7.38e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)		GATGAGCTGCGGGAGTTCTTC	0.468000													4	101					0	0	0.00024832	0	0
NUMA1	4926	broad.mit.edu	37	11	71733410	71733410	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr11:71733410C>G	ENST00000393695.3	-	7	678	c.347G>C	c.(346-348)tGg>tCg	p.W116S	NUMA1_ENST00000351960.6_Missense_Mutation_p.W116S|NUMA1_ENST00000358965.6_Missense_Mutation_p.W116S	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	116					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity	p.W116S(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						AAACTGTTCCCAGTCCCTGGG	0.493000			T	RARA	APL								6	210					0	0	0.000274275	0	0
CSGALNACT2	55454	broad.mit.edu	37	10	43678849	43678849	+	Silent	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr10:43678849C>G	ENST00000374466.3	+	8	1823	c.1488C>G	c.(1486-1488)ccC>ccG	p.P496P		NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	496					chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	Golgi cisterna membrane|integral to Golgi membrane	glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding	p.P496P(1)		endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						AGCTGACCCCCGAGCAGTACC	0.517000													4	170					0	0	3.59834e-05	0	0
ZXDB	158586	broad.mit.edu	37	X	57620752	57620752	+	Silent	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chrX:57620752G>C	ENST00000374888.1	+	1	2484	c.2271G>C	c.(2269-2271)gcG>gcC	p.A757A		NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	757					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	p.A757A(1)		NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						CAACCAAAGCGGAGTGGAACG	0.488000													3	34					0	0	6.4e-05	0	0
ASTN1	460	broad.mit.edu	37	1	177030282	177030282	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:177030282C>A	ENST00000367654.2	-	2	416	c.403G>T	c.(403-405)Gac>Tac	p.D135Y	ASTN1_ENST00000424564.2_Missense_Mutation_p.D135Y|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Missense_Mutation_p.D135Y|ASTN1_ENST00000361833.2_Missense_Mutation_p.D135Y			O14525	ASTN1_HUMAN	astrotactin 1	135					cell migration|neuron cell-cell adhesion	integral to membrane		p.D135Y(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TCAGTGGGGTCTTGTCCAGGA	0.542000													164	67					6.32397e-60	1.91417e-58	0.000147903	1	0
DLAT	1737	broad.mit.edu	37	11	111909992	111909992	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr11:111909992C>G	ENST00000280346.6	+	7	1659	c.1000C>G	c.(1000-1002)Cag>Gag	p.Q334E	DLAT_ENST00000393051.1_Missense_Mutation_p.Q229E|DLAT_ENST00000537636.1_Missense_Mutation_p.Q105E	NM_001931.4	NP_001922.2	P10515	ODP2_HUMAN	dihydrolipoamide S-acetyltransferase	334					glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial pyruvate dehydrogenase complex	dihydrolipoyllysine-residue acetyltransferase activity|protein binding	p.Q334E(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)	22		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)	NADH(DB00157)	TCCAACTCCCCAGCCTTTAGC	0.443000													6	339					0	0	3.59834e-05	0	0
ACTR3C	653857	broad.mit.edu	37	7	149983460	149983460	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr7:149983460G>C	ENST00000539352.1	-	5	718	c.467C>G	c.(466-468)cCg>cGg	p.P156R	ACTR3C_ENST00000252071.4_Missense_Mutation_p.P156R	NM_001164458.1	NP_001157930.1	Q9C0K3	ARP3C_HUMAN	ARP3 actin-related protein 3 homolog C (yeast)	156					regulation of actin filament polymerization	cytoskeleton	actin binding|ATP binding	p.P156R(1)									CCTTACCTCCGGGTGAAAGAA	0.468000													4	160					0	0	1.23904e-05	0	0
S100A10	6281	broad.mit.edu	37	1	151955702	151955702	+	Silent	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:151955702C>G	ENST00000368811.3	-	3	890	c.231G>C	c.(229-231)gcG>gcC	p.A77A	S100A10_ENST00000368809.1_Silent_p.A77A	NM_002966.2	NP_002957.1	P60903	S10AA_HUMAN	S100 calcium binding protein A10	77					signal transduction		calcium ion binding|receptor binding	p.A77A(1)		breast(1)|kidney(1)|lung(2)|ovary(2)	6	Melanoma(130;0.0648)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			TGGTGAGGCCCGCAATTAGGG	0.458000													6	185					0	0	8.12818e-05	0	0
CEP97	79598	broad.mit.edu	37	3	101477064	101477064	+	Silent	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr3:101477064C>G	ENST00000341893.3	+	9	2366	c.1614C>G	c.(1612-1614)ccC>ccG	p.P538P	CEP97_ENST00000327230.4_Silent_p.P538P|CEP97_ENST00000494050.1_Silent_p.P479P			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	538	CEP110 binding.					centrosome|nucleus	protein binding	p.P538P(2)		cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						AGAAACTTCCCATGATTTTAA	0.413000													5	207					0	0	1.23904e-05	0	0
ATP8A2	51761	broad.mit.edu	37	13	26138096	26138096	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr13:26138096G>T	ENST00000381655.2	+	16	1542	c.1400G>T	c.(1399-1401)cGg>cTg	p.R467L	ATP8A2_ENST00000255283.8_Missense_Mutation_p.R427L	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	427					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.R467L(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		TCTTACAGTCGGATGCCTCCT	0.413000													6	93					8.12818e-05	0.00190393	8.12818e-05	1	0
HOMER2	9455	broad.mit.edu	37	15	83544130	83544130	+	Silent	SNP	C	C	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr15:83544130C>T	ENST00000304231.8	-	3	381	c.189G>A	c.(187-189)ccG>ccA	p.P63P	HOMER2_ENST00000450735.2_Silent_p.P63P|HOMER2_ENST00000426485.1_Silent_p.P63P|HOMER2_ENST00000399166.2_Silent_p.P63P	NM_199330.2	NP_955362.1	Q9NSB8	HOME2_HUMAN	homer homolog 2 (Drosophila)	63	WH1.				metabotropic glutamate receptor signaling pathway	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane		p.P126P(1)|p.P63P(1)		cervix(1)|endometrium(2)|lung(6)	9						AGGTCATATTCGGTGTGATTG	0.438000													24	36					0	0	0.00047179	0	0
AGAP6	414189	broad.mit.edu	37	10	51749117	51749117	+	Silent	SNP	G	G	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr10:51749117G>A	ENST00000412531.3	+	2	345	c.273G>A	c.(271-273)caG>caA	p.Q91Q	AGAP6_ENST00000374056.4_Intron	NM_001077665.2	NP_001071133.2	C9IYN2	C9IYN2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 6	91					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	p.Q91Q(1)		NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						CAATATTCCAGAGGAACTCTC	0.358000													8	122					0	0	3.86212e-05	0	0
ZNF454	285676	broad.mit.edu	37	5	178392340	178392340	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr5:178392340G>A	ENST00000320129.3	+	5	1238	c.935G>A	c.(934-936)aGg>aAg	p.R312K	ZNF454_ENST00000519564.1_Missense_Mutation_p.R312K	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	312					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R312K(1)		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)		TTTGTGTGCAGGGCACACCTT	0.378000													49	16					0	0	0.000147903	0	0
WDR34	89891	broad.mit.edu	37	9	131403138	131403138	+	Silent	SNP	C	C	T	rs137886760		TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr9:131403138C>T	ENST00000372715.2	-	2	327	c.267G>A	c.(265-267)acG>acA	p.T89T		NM_052844.3	NP_443076.2	Q96EX3	WDR34_HUMAN	WD repeat domain 34	89						cytoplasm		p.T89T(1)		central_nervous_system(2)|lung(5)|skin(1)|urinary_tract(1)	9						CGGGGGCCTCCGTCTGCACCT	0.632000													17	28					0	0	7.07596e-05	0	0
F3	2152	broad.mit.edu	37	1	95005860	95005861	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:95005860_95005861delCA	ENST00000334047.7	-	2	327_328	c.164_165delTG	c.(163-165)tfs	p.L55fs	F3_ENST00000480356.1_5'UTR|F3_ENST00000370207.4_Frame_Shift_Del_p.L55fs	NM_001993.4	NP_001984.1	P13726	TF_HUMAN	coagulation factor III (thromboplastin, tissue factor)	55					activation of caspase activity|activation of plasma proteins involved in acute inflammatory response|anti-apoptosis|blood coagulation, extrinsic pathway|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of protein kinase B signaling cascade	extracellular matrix|extracellular space|integral to membrane	cell surface binding|phospholipid binding|protease binding			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)	14		all_lung(203;0.00106)|Lung NSC(277;0.00475)		all cancers(265;0.0232)|Epithelial(280;0.121)	Coagulation factor VIIa(DB00036)	GTTCCCACTCCAAAATTGTCTT	0.356													41	272	---	---	---	---					
LRP1B	53353	broad.mit.edu	37	2	140992354	140992354	+	Splice_Site	DEL	C	C	-			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr2:140992354delC	ENST00000389484.3	-	90	14631		c.e90+1			NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B						protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		tcttctctcaccccagcagtt	0.438										TSP Lung(27;0.18)			29	57	---	---	---	---					
SSPO	23145	broad.mit.edu	37	7	149474054	149474054	+	RNA	DEL	C	C	-			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr7:149474054delC	ENST00000378016.2	+	0	264							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCAAGTGGAACCGGACAGTGA	0.642													20	66	---	---	---	---					
SPATA31A6	389730	broad.mit.edu	37	9	43625677	43625677	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr9:43625677delC	ENST00000332857.6	-	4	3038	c.3010delG	c.(3010-3012)agfs	p.E1004fs		NM_001145196.1	NP_001138668.1			SPATA31 subfamily A, member 6																		CTAACAACCTCCTCCATAAGA	0.512													4	6	---	---	---	---					
ARID2	196528	broad.mit.edu	37	12	46205235	46205235	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr12:46205235delG	ENST00000334344.6	+	4	491	c.319delG	c.(319-321)ggfs	p.G107fs	ARID2_ENST00000422737.1_5'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	107					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)		TCATCATTTTGGGGAGGATGA	0.393			"""N, S, F"""		hepatocellular carcinoma								35	46	---	---	---	---					
SNAP23	8773	broad.mit.edu	37	15	42820530	42820530	+	Frame_Shift_Del	DEL	A	A	-			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr15:42820530delA	ENST00000249647.3	+	6	805	c.337delA	c.(337-339)atfs	p.N113fs	SNAP23_ENST00000564153.1_Intron|SNAP23_ENST00000397138.1_Intron|SNAP23_ENST00000349777.1_Intron	NM_003825.3	NP_003816.2	O00161	SNP23_HUMAN	synaptosomal-associated protein, 23kDa	113					cellular membrane fusion|post-Golgi vesicle-mediated transport|protein transport|vesicle targeting	azurophil granule|cell junction|Golgi apparatus|nucleus|plasma membrane enriched fraction|specific granule|synapse|synaptosome	protein binding			large_intestine(1)|lung(1)	2		all_cancers(109;7.14e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;1.18e-08)|all_lung(180;4.2e-08)|Melanoma(134;0.0179)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;2.62e-06)		CTCACCTTGCAATGTAGTATC	0.463													43	69	---	---	---	---					
SQRDL	58472	broad.mit.edu	37	15	45965969	45965969	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr15:45965969delC	ENST00000260324.7	+	5	1010	c.624delC	c.(622-624)atfs	p.I208fs	RP11-96O20.4_ENST00000564080.1_Frame_Shift_Del_p.I208fs|SQRDL_ENST00000568606.1_Frame_Shift_Del_p.I208fs	NM_021199.2	NP_067022.1	Q9Y6N5	SQRD_HUMAN	sulfide quinone reductase-like (yeast)	208							oxidoreductase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	11		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)		CTCAGAAGATCATGTACTTAT	0.478													30	51	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7578514	7578514	+	Frame_Shift_Del	DEL	T	T	-			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr17:7578514delT	ENST00000420246.2	-	5	548	c.416delA	c.(415-417)agfs	p.K139fs	TP53_ENST00000359597.4_Frame_Shift_Del_p.K139fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.K139fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.K139fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.K139fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.K139fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	139	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		K -> E (in sporadic cancers; somatic mutation).|K -> N (in sporadic cancers; somatic mutation).|K -> Q (in sporadic cancers; somatic mutation).|K -> R (in sporadic cancers; somatic mutation).|K -> T (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.A138_P142delAKTCP(4)|p.C135fs*9(3)|p.K139_T140delKT(3)|p.K139fs*9(2)|p.K139R(2)|p.K139fs*31(2)|p.N131fs*27(2)|p.K139T(1)|p.L137_W146del10(1)|p.K46_T47delKT(1)|p.F134_T140>S(1)|p.A45_P49delAKTCP(1)|p.K7_T8delKT(1)|p.C3fs*9(1)|p.A6_P10delAKTCP(1)|p.A138_V143delAKTCPV(1)|p.K139fs*10(1)|p.K139fs*4(1)|p.C42fs*9(1)|p.Q136_K139delQLAK(1)|p.C135_T140delCQLAKT(1)|p.K139fs*29(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		AGGGCAGGTCTTGGCCAGTTG	0.562		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			30	11	---	---	---	---					
ARHGAP6	395	broad.mit.edu	37	X	11157265	11157265	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chrX:11157265delC	ENST00000337414.4	-	13	3515	c.2643delG	c.(2641-2643)ccfs	p.P883fs	ARHGAP6_ENST00000534860.1_Intron|ARHGAP6_ENST00000303025.6_Frame_Shift_Del_p.P680fs|ARHGAP6_ENST00000380736.1_Frame_Shift_Del_p.P680fs	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	883					actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						GGTATGGAGGCGGGGGCCGCT	0.706													2	4	---	---	---	---					
SHROOM4	57477	broad.mit.edu	37	X	50350711	50350713	+	In_Frame_Del	DEL	TCC	TCC	-	rs6614551		TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chrX:50350711_50350713delTCC	ENST00000376020.2	-	6	3454_3456	c.3429_3431delGGA	c.(3427-3432)gaa>ga	p.EE1149del	SHROOM4_ENST00000460112.3_In_Frame_Del_p.EE1033del|SHROOM4_ENST00000289292.7_In_Frame_Del_p.EE1149del	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	1149	Glu-rich.				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					ctcttcctcttcctcttcttctt	0.547													4	5	---	---	---	---					
