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
SLCO1C1	53919	broad.mit.edu	37	12	20890206	20890206	+	Splice_Site	SNP	T	T	C			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr12:20890206T>C	ENST00000381552.1	+	11	1916	c.1548_splice	c.e11+1	p.I516_splice	SLCO1C1_ENST00000540354.1_Splice_Site_p.I467_splice|SLCO1C1_ENST00000266509.2_Splice_Site_p.I516_splice|SLCO1C1_ENST00000545102.1_Splice_Site_p.I398_splice|SLCO1C1_ENST00000545604.1_Splice_Site_p.I516_splice			Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	516	Kazal-like.				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	p.I516I(2)		NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					GAAAAAATATTGTAAGAAATC	0.423000													20	52					0	0	0.007413	0	0
MDN1	23195	broad.mit.edu	37	6	90499592	90499592	+	Silent	SNP	T	T	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr6:90499592T>A	ENST00000369393.3	-	7	1252	c.1137A>T	c.(1135-1137)ggA>ggT	p.G379G	MDN1_ENST00000428876.1_Silent_p.G379G			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	379					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	p.G379G(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		ACACAAACTCTCCAGGAACAT	0.488000													16	64					0	0	0.003163	0	0
NR1H3	10062	broad.mit.edu	37	11	47282902	47282902	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr11:47282902C>T	ENST00000467728.1	+	4	1848	c.610C>T	c.(610-612)Ccc>Tcc	p.P204S	NR1H3_ENST00000527949.1_Missense_Mutation_p.P113S|NR1H3_ENST00000529540.1_3'UTR|NR1H3_ENST00000405576.1_Missense_Mutation_p.P159S|NR1H3_ENST00000441012.2_Missense_Mutation_p.P204S|NR1H3_ENST00000481889.2_Missense_Mutation_p.P159S|NR1H3_ENST00000405853.3_Missense_Mutation_p.P204S|NR1H3_ENST00000395397.3_Missense_Mutation_p.P159S|NR1H3_ENST00000407404.1_Missense_Mutation_p.P204S			Q13133	NR1H3_HUMAN	nuclear receptor subfamily 1, group H, member 3	204					apoptotic cell clearance|cellular response to lipopolysaccharide|cholesterol homeostasis|negative regulation of cholesterol storage|negative regulation of inflammatory response|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage activation|negative regulation of pancreatic juice secretion|negative regulation of pinocytosis|negative regulation of secretion of lysosomal enzymes|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of cholesterol homeostasis|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor biosynthetic process|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of circadian rhythm|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to progesterone stimulus|triglyceride homeostasis	nuclear chromatin|nucleoplasm	cholesterol binding|steroid hormone receptor activity|sterol response element binding|transcription coactivator activity|zinc ion binding	p.P204S(1)		endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						CCAAATCCTGCCCCAGCTCAG	0.597000													14	13					0	0	0.004990	0	0
EPM2A	7957	broad.mit.edu	37	6	145948691	145948691	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr6:145948691C>T	ENST00000367519.3	-	4	1382	c.857G>A	c.(856-858)gGc>gAc	p.G286D		NM_005670.3	NP_005661.1	O95278	EPM2A_HUMAN	epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)	286	Tyrosine-protein phosphatase.				glycogen metabolic process	cytosol|endoplasmic reticulum|nucleus|plasma membrane|polysome	carbohydrate binding|identical protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.G286D(1)		kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1)	7		Ovarian(120;0.162)		OV - Ovarian serous cystadenocarcinoma(155;3.38e-07)|GBM - Glioblastoma multiforme(68;0.0203)		CAGATTCCAGCCCATCACATA	0.592000													12	50					0	0	0.013537	0	0
KRTAP11-1	337880	broad.mit.edu	37	21	32253560	32253560	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr21:32253560G>T	ENST00000332378.4	-	1	314	c.284C>A	c.(283-285)cCc>cAc	p.P95H		NM_175858.2	NP_787054.1	Q8IUC1	KR111_HUMAN	keratin associated protein 11-1	95						keratin filament	structural molecule activity	p.P95H(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1)	18						AGTTGAGCAGGGGTTGGAAAT	0.572000													10	58					0.00621372	0.00670222	0.006214	1	0
TBCK	93627	broad.mit.edu	37	4	107156448	107156448	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr4:107156448C>A	ENST00000273980.4	-	16	1874	c.1427G>T	c.(1426-1428)tGg>tTg	p.W476L	TBCK_ENST00000394706.3_Missense_Mutation_p.W437L|TBCK_ENST00000361687.4_Missense_Mutation_p.W413L|TBCK_ENST00000432496.2_Missense_Mutation_p.W476L|TBCK_ENST00000394708.2_Missense_Mutation_p.W476L			Q8TEA7	TBCK_HUMAN	TBC1 domain containing kinase	476	Rab-GAP TBC.					intracellular	Rab GTPase activator activity	p.W476L(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						AAGAGCAGCCCAGGTTAAACC	0.358000													11	28					0.00316338	0.00345004	0.003163	1	0
KRT85	3891	broad.mit.edu	37	12	52758891	52758891	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr12:52758891G>T	ENST00000257901.3	-	2	559	c.484C>A	c.(484-486)Cgc>Agc	p.R162S		NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	162	Linker 1.|Rod.				epidermis development	keratin filament	protein binding|structural molecule activity	p.R162S(1)		NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TCGCAGCAGCGCTGGTTCTGG	0.622000													35	76					3.86903e-22	6.63538e-22	0.013726	1	0
PHKA1	5255	broad.mit.edu	37	X	71855067	71855067	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chrX:71855067C>T	ENST00000373545.3	-	16	2090	c.1652G>A	c.(1651-1653)tGt>tAt	p.C551Y	PHKA1_ENST00000541944.1_Missense_Mutation_p.C551Y|PHKA1_ENST00000373539.3_Missense_Mutation_p.C551Y|PHKA1_ENST00000373542.4_Missense_Mutation_p.C551Y|PHKA1_ENST00000339490.3_Missense_Mutation_p.C551Y			P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	551					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	p.C551Y(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					CCAGCGGCTACAGAGGTAGGA	0.483000													11	59					0	0	0.008291	0	0
GPR37	2861	broad.mit.edu	37	7	124387384	124387384	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr7:124387384C>A	ENST00000303921.2	-	2	1687	c.1037G>T	c.(1036-1038)gGa>gTa	p.G346V		NM_005302.2	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	346						endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity	p.G346V(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						AGTGGTGACTCCCAGAGAAGC	0.468000													12	67					1.5739e-10	2.23077e-10	0.004007	1	0
ZNF445	353274	broad.mit.edu	37	3	44496980	44496980	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr3:44496980C>A	ENST00000425708.2	-	2	403	c.62G>T	c.(61-63)gGg>gTg	p.G21V	ZNF445_ENST00000396077.2_Missense_Mutation_p.G21V			P59923	ZN445_HUMAN	zinc finger protein 445	21					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G21V(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		CTGAAGCCGCCCTCGCTCCCT	0.577000													35	34					2.09667e-21	3.57789e-21	0.003755	1	0
RNF17	56163	broad.mit.edu	37	13	25352513	25352513	+	Missense_Mutation	SNP	A	A	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr13:25352513A>T	ENST00000255324.5	+	4	450	c.398A>T	c.(397-399)aAg>aTg	p.K133M	RNF17_ENST00000381921.1_Missense_Mutation_p.K133M|RNF17_ENST00000255325.5_Missense_Mutation_p.K133M|RNF17_ENST00000255326.4_3'UTR	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	133					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding	p.K133M(2)		NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TCCACAGACAAGACTCTTTTG	0.378000													19	58					0	0	0.007413	0	0
SLC20A1	6574	broad.mit.edu	37	2	113417307	113417307	+	Silent	SNP	T	T	C			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr2:113417307T>C	ENST00000272542.3	+	8	2114	c.1575T>C	c.(1573-1575)ttT>ttC	p.F525F		NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate transporter), member 1	525					phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity	p.F525F(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						CAGCCTGCTTTGGGTCATTCG	0.448000													55	92					0	0	0.014410	0	0
DOCK4	9732	broad.mit.edu	37	7	111580244	111580244	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr7:111580244G>C	ENST00000428084.1	-	11	1170	c.898C>G	c.(898-900)Ccc>Gcc	p.P300A	DOCK4_ENST00000437633.1_Missense_Mutation_p.P300A|DOCK4_ENST00000476846.1_5'UTR			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	300					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.P300A(1)|p.P288A(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)				CAGCCAAAGGGTCGTCGGTAC	0.448000													129	301					0	0	0.014410	0	0
ZNF34	80778	broad.mit.edu	37	8	145998963	145998963	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr8:145998963G>C	ENST00000429371.2	-	6	1461	c.1308C>G	c.(1306-1308)agC>agG	p.S436R	ZNF34_ENST00000343459.4_Missense_Mutation_p.S457R	NM_030580.3	NP_085057.3	Q8IZ26	ZNF34_HUMAN	zinc finger protein 34	457					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S457R(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.221)	OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;5.18e-38)|all cancers(56;4.41e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.0179)		GTGTGCTTTGGCTGAAAACTT	0.488000													15	45					0	0	0.004007	0	0
EDAR	10913	broad.mit.edu	37	2	109527343	109527343	+	Nonsense_Mutation	SNP	C	C	A	rs114808659	by1000genomes	TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr2:109527343C>A	ENST00000409271.1	-	8	1158	c.715G>T	c.(715-717)Gga>Tga	p.G239*	EDAR_ENST00000258443.2_Intron|EDAR_ENST00000376651.1_Nonsense_Mutation_p.G239*			Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	217					apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						CCAGGCTCTCCGACAGGGGGA	0.632000													20	35					0.000175454	0.000199274	0.010504	1	0
TGIF2LX	90316	broad.mit.edu	37	X	89177192	89177192	+	Missense_Mutation	SNP	T	T	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chrX:89177192T>A	ENST00000561129.2	+	1	238	c.108T>A	c.(106-108)aaT>aaA	p.N36K	TGIF2LX_ENST00000283891.5_Missense_Mutation_p.N36K			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	36						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.N36K(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						TGTCGAGAAATAACGCAGATA	0.572000													18	26					0	0	0.004289	0	0
HSPB7	27129	broad.mit.edu	37	1	16343586	16343586	+	Nonsense_Mutation	SNP	C	C	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr1:16343586C>A	ENST00000311890.9	-	2	1142	c.316G>T	c.(316-318)Gag>Tag	p.E106*	HSPB7_ENST00000487046.1_Nonsense_Mutation_p.E111*|HSPB7_ENST00000411503.1_Nonsense_Mutation_p.E106*|HSPB7_ENST00000406363.2_Nonsense_Mutation_p.E110*|HSPB7_ENST00000375718.4_Nonsense_Mutation_p.E181*	NM_014424.4	NP_055239.1	Q9UBY9	HSPB7_HUMAN	heat shock 27kDa protein family, member 7 (cardiovascular)	106					regulation of heart contraction|response to heat|response to unfolded protein	Cajal body	protein C-terminus binding	p.E106*(1)		breast(1)|large_intestine(1)|liver(1)|lung(6)|skin(1)	10		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.21e-08)|COAD - Colon adenocarcinoma(227;5.5e-06)|BRCA - Breast invasive adenocarcinoma(304;9.08e-05)|Kidney(64;0.000162)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		GCCCGCACCTCGATGTGGTTG	0.562000													40	62					1.03484e-13	1.59528e-13	0.005524	1	0
OR51D1	390038	broad.mit.edu	37	11	4661968	4661968	+	Silent	SNP	C	C	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr11:4661968C>A	ENST00000357605.2	+	1	1024	c.948C>A	c.(946-948)ctC>ctA	p.L316L		NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D, member 1	316					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L316L(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAAGGGTCCTCTGTATGTTCT	0.463000													32	43					1.62565e-12	2.40863e-12	0.012213	1	0
TYR	7299	broad.mit.edu	37	11	88911910	88911910	+	Silent	SNP	C	C	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr11:88911910C>A	ENST00000263321.5	+	1	1291	c.789C>A	c.(787-789)ctC>ctA	p.L263L	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	263					eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity	p.L263L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	CTAACTTACTCAGCCCAGCAT	0.458000													21	54					3.83957e-06	4.63723e-06	0.002780	1	0
NPAS4	266743	broad.mit.edu	37	11	66189949	66189949	+	Missense_Mutation	SNP	A	A	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr11:66189949A>T	ENST00000311034.2	+	3	531	c.355A>T	c.(355-357)Atc>Ttc	p.I119F		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	119	PAS 1.				transcription, DNA-dependent		DNA binding|signal transducer activity	p.I119F(1)		breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						GGGTGACAGCATCTACGACAT	0.547000													28	76					0	0	0.009535	0	0
DENND1B	163486	broad.mit.edu	37	1	197522226	197522226	+	Missense_Mutation	SNP	A	A	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr1:197522226A>T	ENST00000235453.4	-	16	1353	c.1076T>A	c.(1075-1077)cTg>cAg	p.L359Q	DENND1B_ENST00000400967.2_Missense_Mutation_p.L359Q|DENND1B_ENST00000367396.3_Missense_Mutation_p.L389Q			Q6P3S1	DEN1B_HUMAN	DENN/MADD domain containing 1B	389	dDENN.					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity	p.L29Q(1)|p.L389Q(1)|p.L359Q(1)		NS(2)|breast(2)|kidney(2)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	22						TAGTTTTGCCAGTCGACCATC	0.299000													25	47					0	0	0.002780	0	0
RAP1GAP	5909	broad.mit.edu	37	1	21936680	21936680	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr1:21936680G>A	ENST00000542643.2	-	15	1234	c.932C>T	c.(931-933)tCc>tTc	p.S311F	RAP1GAP_ENST00000374761.2_Missense_Mutation_p.S342F|RAP1GAP_ENST00000374765.4_Missense_Mutation_p.S311F|RAP1GAP_ENST00000290101.4_Missense_Mutation_p.S375F|RAP1GAP_ENST00000374763.2_Missense_Mutation_p.S311F	NM_001145657.1	NP_001139129.1	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein	311	Rap-GAP.				regulation of Ras GTPase activity|signal transduction	cytosol|Golgi membrane|membrane fraction	GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding	p.S342F(1)|p.S311F(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		CAGGAAGTTGGACGCGATCAT	0.622000													10	49					0	0	0.008291	0	0
OR4L1	122742	broad.mit.edu	37	14	20528375	20528375	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr14:20528375C>A	ENST00000315683.1	+	1	172	c.172C>A	c.(172-174)Ccc>Acc	p.P58T		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	58					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P58T(1)		central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		CCTTCATTCTCCCTTGTACTT	0.423000													65	139					1.1794e-34	2.17492e-34	0.014410	1	0
ZFHX4	79776	broad.mit.edu	37	8	77763493	77763493	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr8:77763493G>A	ENST00000521891.2	+	10	4784	c.4336G>A	c.(4336-4338)Gca>Aca	p.A1446T	ZFHX4_ENST00000455469.2_Missense_Mutation_p.A1401T|ZFHX4_ENST00000050961.6_Missense_Mutation_p.A1401T|ZFHX4_ENST00000518282.1_Missense_Mutation_p.A1420T	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1401						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A1446T(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ACACTTGGAAGCAGGCCACCC	0.493000										HNSCC(33;0.089)			16	28					0	0	0.004007	0	0
DALRD3	55152	broad.mit.edu	37	3	49055934	49055934	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr3:49055934C>G	ENST00000341949.4	-	1	70	c.64G>C	c.(64-66)Ggc>Cgc	p.G22R	DALRD3_ENST00000496568.1_Intron|DALRD3_ENST00000395462.4_5'UTR|DALRD3_ENST00000440857.1_5'UTR|DALRD3_ENST00000313778.5_Intron|DALRD3_ENST00000441576.2_Missense_Mutation_p.G22R	NM_001009996.1	NP_001009996.1	Q5D0E6	DALD3_HUMAN	DALR anticodon binding domain containing 3	22					arginyl-tRNA aminoacylation	cytoplasm	arginine-tRNA ligase activity|ATP binding	p.G22R(1)		breast(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		ACCGGACCGCCTGGCCCCAGG	0.682000													3	6					0	0	0.004672	0	0
CCL15	6359	broad.mit.edu	37	17	34328476	34328476	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr17:34328476G>T	ENST00000354059.4	-	1	608	c.56C>A	c.(55-57)tCc>tAc	p.S19Y	CCL14_ENST00000536149.1_5'UTR|CCL15-CCL14_ENST00000481427.2_Missense_Mutation_p.S19Y|RP11-104J23.1_ENST00000590192.1_RNA	NM_032965.4	NP_116741.1	Q16663	CCL15_HUMAN	chemokine (C-C motif) ligand 15	19					cell-cell signaling|cellular calcium ion homeostasis|immune response	extracellular space	chemoattractant activity|chemokine activity|heparin binding|signal transducer activity	p.S19Y(1)		large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CTGGGCCTGGGATCCAAGGAC	0.587000													4	30					0.00909568	0.00976469	0.009096	1	0
ZSWIM2	151112	broad.mit.edu	37	2	187692918	187692918	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr2:187692918C>A	ENST00000295131.2	-	9	1734	c.1695G>T	c.(1693-1695)gaG>gaT	p.E565D		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	565					apoptosis		zinc ion binding	p.E565D(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			TCTTGTTGTCCTCTCTTATTT	0.378000													12	36					1.5842e-08	2.11844e-08	0.001855	1	0
ARAP2	116984	broad.mit.edu	37	4	36149351	36149351	+	Missense_Mutation	SNP	A	A	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr4:36149351A>T	ENST00000303965.4	-	18	3507	c.3018T>A	c.(3016-3018)ttT>ttA	p.F1006L		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1006			F -> L (in dbSNP:rs35218548).		regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding	p.F1006L(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						AGTTTTCAGCAAATAAGGGAA	0.373000													13	20					0	0	0.001855	0	0
TCEB1	6921	broad.mit.edu	37	8	74868148	74868148	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr8:74868148G>T	ENST00000602840.1	-	3	340	c.146C>A	c.(145-147)cCa>cAa	p.P49Q	TCEB1_ENST00000522337.1_Missense_Mutation_p.P49Q|TCEB1_ENST00000520210.1_Missense_Mutation_p.P33Q|TCEB1_ENST00000523815.1_Missense_Mutation_p.P49Q|TCEB1_ENST00000518127.1_Missense_Mutation_p.P49Q|TCEB1_ENST00000520242.1_Missense_Mutation_p.P49Q|TCEB1_ENST00000519487.1_Missense_Mutation_p.P49Q|TCEB1_ENST00000284811.8_Missense_Mutation_p.P49Q			Q15369	ELOC_HUMAN	transcription elongation factor B (SIII), polypeptide 1 (15kDa, elongin C)	49					interspecies interaction between organisms|positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|ubiquitin-dependent protein catabolic process|viral reproduction	cytosol|nucleoplasm	protein binding	p.P49Q(1)		endometrium(2)|kidney(3)|lung(1)|prostate(1)	7	Breast(64;0.0311)		Epithelial(68;0.0136)|all cancers(69;0.0431)|BRCA - Breast invasive adenocarcinoma(89;0.0499)			GTGCTTACCTGGGCCACTCAA	0.323000													26	56					1.75199e-13	2.66488e-13	0.007291	1	0
BAGE2	85319	broad.mit.edu	37	21	11047544	11047544	+	RNA	SNP	C	C	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr21:11047544C>A	ENST00000470054.1	-	0	710									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)		AAGTATGATACCCTTTGTCAC	0.333000													13	341					1.05317e-09	1.45955e-09	0.002450	1	0
SLC25A45	283130	broad.mit.edu	37	11	65146858	65146858	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr11:65146858C>A	ENST00000417511.2	-	8	1336	c.202G>T	c.(202-204)Ggg>Tgg	p.G68W	SLC25A45_ENST00000294187.6_Missense_Mutation_p.G68W|SLC25A45_ENST00000534028.1_Missense_Mutation_p.G86W|SLC25A45_ENST00000526432.1_Intron|SLC25A45_ENST00000360662.3_Missense_Mutation_p.G86W|SLC25A45_ENST00000377152.2_Intron|SLC25A45_ENST00000398802.1_Missense_Mutation_p.G110W|SLC25A45_ENST00000527174.1_Missense_Mutation_p.G110W	NM_001278251.1	NP_001265180.1	Q8N413	S2545_HUMAN	solute carrier family 25, member 45	110					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	p.G110W(1)		endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	14						TGCAGGAACCCCCCGGTGCAG	0.657000													12	52					1.5842e-08	2.11844e-08	0.001855	1	0
BHLHB9	80823	broad.mit.edu	37	X	102004609	102004609	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chrX:102004609C>G	ENST00000372735.1	+	4	1271	c.686C>G	c.(685-687)gCt>gGt	p.A229G	BHLHB9_ENST00000361229.4_Missense_Mutation_p.A229G|BHLHB9_ENST00000457056.1_Missense_Mutation_p.A229G|BHLHB9_ENST00000448867.1_Missense_Mutation_p.A229G|BHLHB9_ENST00000447531.1_Missense_Mutation_p.A229G			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	229						cytoplasm|nucleus	binding	p.A229G(1)		cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GTAACTCCAGCTGTGTTAGGA	0.473000													36	167					0	0	0.004878	0	0
KLRK1	22914	broad.mit.edu	37	12	10531201	10531201	+	Nonsense_Mutation	SNP	A	A	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr12:10531201A>T	ENST00000240618.6	-	6	521	c.381T>A	c.(379-381)tgT>tgA	p.C127*	KLRK1_ENST00000540818.1_Nonsense_Mutation_p.C127*|RP11-277P12.20_ENST00000500682.1_RNA|KLRC4-KLRK1_ENST00000539300.1_3'UTR	NM_001199805.1|NM_007360.3	NP_001186734.1|NP_031386.2	P26718	NKG2D_HUMAN	killer cell lectin-like receptor subfamily K, member 1	127	C-type lectin.				natural killer cell activation|T cell costimulation	integral to plasma membrane	sugar binding	p.C127*(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)	9						TTTGAGACATACAAGAAGCCT	0.368000													26	63					0	0	0.005443	0	0
MAGEC2	51438	broad.mit.edu	37	X	141291679	141291679	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chrX:141291679G>T	ENST00000247452.3	-	3	442	c.95C>A	c.(94-96)aCa>aAa	p.T32K		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	32						cytoplasm|nucleus		p.T32K(1)		NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					TTCCTCATCTGTGGGATGCTG	0.522000										HNSCC(46;0.14)			107	139					5.67068e-62	1.08058e-61	0.014410	1	0
LINC01317	104355287	broad.mit.edu	37	2	33952176	33952176	+	RNA	SNP	T	T	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr2:33952176T>A	ENST00000366209.2	+	0	68				MYADML_ENST00000474610.1_RNA														p.T223S(1)									TTGACGGCCGTCAGGTTGGTC	0.587000													5	5					0	0	0.001168	0	0
GFRAL	389400	broad.mit.edu	37	6	55216299	55216299	+	Missense_Mutation	SNP	A	A	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr6:55216299A>T	ENST00000340465.2	+	5	705	c.619A>T	c.(619-621)Agc>Tgc	p.S207C		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	207						integral to membrane	receptor activity	p.S207C(1)		NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			AGCTCTTCACAGCAAGACATG	0.423000													30	97					0	0	0.008361	0	0
SMARCA4	6597	broad.mit.edu	37	19	11105642	11105642	+	Nonsense_Mutation	SNP	G	G	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr19:11105642G>T	ENST00000358026.2	+	9	1842	c.1558G>T	c.(1558-1560)Gag>Tag	p.E520*	SMARCA4_ENST00000444061.3_Nonsense_Mutation_p.E520*|SMARCA4_ENST00000344626.4_Nonsense_Mutation_p.E520*|SMARCA4_ENST00000450717.3_Nonsense_Mutation_p.E520*|SMARCA4_ENST00000429416.3_Nonsense_Mutation_p.E520*|SMARCA4_ENST00000541122.2_Nonsense_Mutation_p.E520*|SMARCA4_ENST00000590574.1_Nonsense_Mutation_p.E520*|SMARCA4_ENST00000589677.1_Nonsense_Mutation_p.E520*|SMARCA4_ENST00000413806.3_Nonsense_Mutation_p.E520*	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	520	HSA.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.E520*(2)|p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GAAAGAGAACGAGCGGATCGA	0.567000			"""F, N, Mis"""		NSCLC								9	13					1.12685e-05	1.32821e-05	0.004482	1	0
LINC00207	388910	broad.mit.edu	37	22	44967363	44967363	+	RNA	SNP	G	G	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr22:44967363G>A	ENST00000605505.1	+	0	354					NR_028409.1													p.R78K(2)		lung(3)	3						CAGCAGAGCAGGCTGGACTGG	0.557000													5	29					0	0	0.000602	0	0
ARHGAP10	79658	broad.mit.edu	37	4	148744109	148744109	+	Splice_Site	SNP	G	G	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr4:148744109G>T	ENST00000336498.3	+	3	551		c.e3+1			NM_024605.3	NP_078881.3	A1A4S6	RHG10_HUMAN	Rho GTPase activating protein 10						apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	cytoskeletal adaptor activity|SH3 domain binding	p.?(1)		autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		AGAAATTATGGTGAGTTGAGA	0.383000													15	36					1.37285e-15	2.22117e-15	0.004007	1	0
ATP5SL	55101	broad.mit.edu	37	19	41939238	41939238	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr19:41939238G>C	ENST00000221943.9	-	5	540	c.535C>G	c.(535-537)Ctc>Gtc	p.L179V	ATP5SL_ENST00000438807.3_Intron|ATP5SL_ENST00000417807.3_Missense_Mutation_p.L185V|ATP5SL_ENST00000590641.2_Missense_Mutation_p.L158V|ATP5SL_ENST00000589970.1_Intron|ATP5SL_ENST00000301183.11_Intron|ATP5SL_ENST00000597457.1_Intron|ATP5SL_ENST00000592922.2_Missense_Mutation_p.L152V|ATP5SL_ENST00000595425.1_Missense_Mutation_p.L152V	NM_018035.2	NP_060505.2	Q9NW81	AT5SL_HUMAN	ATP5S-like	179								p.L179V(1)		breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	11						GCCAGCGAGAGCTCCTGCAAC	0.682000													7	31					0	0	0.001984	0	0
ERBB4	2066	broad.mit.edu	37	2	212522492	212522492	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr2:212522492G>T	ENST00000342788.4	-	16	2243	c.1933C>A	c.(1933-1935)Cca>Aca	p.P645T	ERBB4_ENST00000402597.1_Intron|ERBB4_ENST00000436443.1_Missense_Mutation_p.P645T	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	645					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.P645T(1)		NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		GCATGTTGTGGTAAAGTGGAA	0.408000										TSP Lung(8;0.080)			13	110					1.52009e-12	2.25711e-12	0.003163	1	0
PIWIL3	440822	broad.mit.edu	37	22	25115791	25115791	+	Missense_Mutation	SNP	T	T	C			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr22:25115791T>C	ENST00000332271.5	-	20	2872	c.2456A>G	c.(2455-2457)tAt>tGt	p.Y819C	PIWIL3_ENST00000533313.1_Missense_Mutation_p.Y701C|PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000527701.1_Missense_Mutation_p.Y701C	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	819	Piwi.				cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding	p.Y819C(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						AATCGTGTCATAGATGACGTT	0.383000													5	68					0	0	0.001984	0	0
GPATCH2L	55668	broad.mit.edu	37	14	76633041	76633041	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr14:76633041G>T	ENST00000261530.7	+	3	764	c.698G>T	c.(697-699)gGg>gTg	p.G233V	GPATCH2L_ENST00000312858.5_Missense_Mutation_p.G233V|GPATCH2L_ENST00000557263.1_Missense_Mutation_p.G233V|GPATCH2L_ENST00000556663.1_Missense_Mutation_p.G233V	NM_017926.2	NP_060396.2			G patch domain containing 2-like									p.G233V(2)									AGTGACACTGGGCTCTTTACC	0.428000													6	43					0.00116845	0.00129283	0.001168	1	0
OR51F2	119694	broad.mit.edu	37	11	4842747	4842747	+	Silent	SNP	T	T	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr11:4842747T>A	ENST00000322110.5	+	1	197	c.132T>A	c.(130-132)ccT>ccA	p.P44P	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F, member 2	44					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P44P(1)		breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCTCCATCCCTTTTTGTCTCC	0.483000													101	143					0	0	0.014410	0	0
IL7R	3575	broad.mit.edu	37	5	35876570	35876570	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr5:35876570C>A	ENST00000303115.3	+	8	1491	c.1362C>A	c.(1360-1362)agC>agA	p.S454R	IL7R_ENST00000343305.4_3'UTR	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	454					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity	p.S454R(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			CCATGTCCAGCTTCTACCAAA	0.453000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency						7	21					0.00198382	0.00218093	0.001984	1	0
VPS13B	157680	broad.mit.edu	37	8	100182372	100182372	+	Silent	SNP	C	C	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr8:100182372C>T	ENST00000395996.1	+	16	2425	c.2314C>T	c.(2314-2316)Ctg>Ttg	p.L772L	VPS13B_ENST00000357162.2_Silent_p.L772L|VPS13B_ENST00000355155.1_Silent_p.L772L|VPS13B_ENST00000358544.2_Silent_p.L772L|VPS13B_ENST00000521932.1_3'UTR			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	772					protein transport			p.L772L(2)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TGGGAAACTTCTGAAACTCCC	0.403000													10	51					0	0	0.008291	0	0
CSMD3	114788	broad.mit.edu	37	8	113484937	113484937	+	Splice_Site	SNP	C	C	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr8:113484937C>A	ENST00000297405.5	-	32	5523		c.e32-1		CSMD3_ENST00000352409.3_Splice_Site|CSMD3_ENST00000455883.2_Splice_Site|CSMD3_ENST00000343508.3_Splice_Site	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3							integral to membrane|plasma membrane		p.?(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						CCACAGGGCGCTAGGAAAAAA	0.313000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			21	43					1.87028e-06	2.29931e-06	0.012319	1	0
GML	2765	broad.mit.edu	37	8	143928046	143928046	+	Silent	SNP	G	G	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr8:143928046G>T	ENST00000220940.1	+	4	507	c.417G>T	c.(415-417)ctG>ctT	p.L139L		NM_002066.2	NP_002057.1	Q99445	GML_HUMAN	glycosylphosphatidylinositol anchored molecule like	139					apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|negative regulation of cell proliferation	anchored to membrane|extrinsic to membrane|plasma membrane		p.L139L(1)		NS(1)|central_nervous_system(2)|endometrium(1)|large_intestine(6)|lung(8)	18	all_cancers(97;4.26e-11)|all_epithelial(106;1.85e-08)|Lung NSC(106;0.000274)|all_lung(105;0.000755)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					CTGTGAGGCTGGGGGTATCAA	0.478000													37	55					1.60099e-16	2.61494e-16	0.004878	1	0
NPAP1	23742	broad.mit.edu	37	15	24921596	24921596	+	Silent	SNP	C	C	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr15:24921596C>A	ENST00000329468.2	+	1	1056	c.582C>A	c.(580-582)acC>acA	p.T194T		NM_018958.2	NP_061831.2			nuclear pore associated protein 1									p.T194T(1)									CCCAGGGCACCCAGGGAGACG	0.582000													8	16					0.00307968	0.00336947	0.003080	1	0
ASIC5	51802	broad.mit.edu	37	4	156787352	156787352	+	Silent	SNP	T	T	C			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr4:156787352T>C	ENST00000537611.2	-	1	73	c.27A>G	c.(25-27)gtA>gtG	p.V9V		NM_017419.2	NP_059115.1	Q9NY37	ACCN5_HUMAN	acid-sensing (proton-gated) ion channel family member 5	9						integral to membrane|plasma membrane		p.V9V(1)									TCTCAGCATATACTTTTGATT	0.353000													35	90					0	0	0.004289	0	0
SCARF2	91179	broad.mit.edu	37	22	20781790	20781790	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr22:20781790G>A	ENST00000405555.3	-	10	1658	c.1588C>T	c.(1588-1590)Cca>Tca	p.P530S	SCARF2_ENST00000266214.5_Missense_Mutation_p.P535S	NM_182895.2	NP_878315.1	Q96GP6	SREC2_HUMAN	scavenger receptor class F, member 2	530					cell adhesion	integral to membrane	protein binding|receptor activity	p.P535S(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	10	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			CCTGAGGGTGGCTCCAGGAAG	0.627000													17	138					0	0	0.004990	0	0
ZBTB44	29068	broad.mit.edu	37	11	130131495	130131495	+	Missense_Mutation	SNP	C	C	T	rs140002196	by1000genomes	TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr11:130131495C>T	ENST00000525842.1	-	2	641	c.274G>A	c.(274-276)Gcc>Acc	p.A92T	ZBTB44_ENST00000357899.4_Missense_Mutation_p.A92T|ZBTB44_ENST00000397753.1_Missense_Mutation_p.A92T|ZBTB44_ENST00000530205.1_Missense_Mutation_p.A92T	NM_014155.4	NP_054874.3	Q8NCP5	ZBT44_HUMAN	zinc finger and BTB domain containing 44	92	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A92T(1)		autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0192)|Lung(977;0.235)		GATAGAGTGGCTGTGTAAGCA	0.408000													19	50					0	0	0.006122	0	0
TUBA3C	7278	broad.mit.edu	37	13	19751104	19751104	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr13:19751104G>T	ENST00000400113.3	-	4	1123	c.1019C>A	c.(1018-1020)aCc>aAc	p.T340N		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	340					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	p.T340N(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		AAACTGGATGGTGCGCTTGGT	0.527000													13	64					7.93312e-07	9.91279e-07	0.002450	1	0
OR51E1	143503	broad.mit.edu	37	11	4674283	4674283	+	Missense_Mutation	SNP	T	T	C			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr11:4674283T>C	ENST00000396952.5	+	2	1177	c.527T>C	c.(526-528)aTc>aCc	p.I176T	OR51E1_ENST00000530215.1_Intron	NM_152430.3	NP_689643.2	Q8TCB6	O51E1_HUMAN	olfactory receptor, family 51, subfamily E, member 1	175					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I175T(1)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		CGCTCCAATATCCTTTCCCAT	0.547000													58	72					0	0	0.014410	0	0
ABHD10	55347	broad.mit.edu	37	3	111700675	111700675	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr3:111700675C>G	ENST00000273359.3	+	2	214	c.187C>G	c.(187-189)Ctt>Gtt	p.L63V	ABHD10_ENST00000494817.1_Missense_Mutation_p.L63V|ABHD10_ENST00000534857.1_Intron	NM_018394.2	NP_060864.1	Q9NUJ1	ABHDA_HUMAN	abhydrolase domain containing 10	63						mitochondrion	serine-type peptidase activity	p.L63V(1)		large_intestine(2)|lung(7)|skin(1)	10						TCGACCAGACCTTCCAAACCT	0.378000													63	68					0	0	0.014410	0	0
IQCF3	401067	broad.mit.edu	37	3	51864584	51864584	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr3:51864584C>A	ENST00000444293.1	+	3	162	c.122C>A	c.(121-123)gCg>gAg	p.A41E	IQCF3_ENST00000440739.2_Silent_p.R78R|IQCF3_ENST00000437810.2_Silent_p.R78R|IQCF3_ENST00000446775.1_Silent_p.R78R|IQCF3_ENST00000456080.1_Silent_p.R78R|IQCF3_ENST00000462079.1_3'UTR			P0C7M6	IQCF3_HUMAN	IQ motif containing F3	0								p.R78R(2)		endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GATCCGTCAGCGGCGGCAGGC	0.647000													38	36					2.04263e-09	2.81375e-09	0.004289	1	0
AMFR	267	broad.mit.edu	37	16	56438863	56438863	+	Silent	SNP	G	G	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr16:56438863G>A	ENST00000290649.5	-	6	1008	c.798C>T	c.(796-798)ctC>ctT	p.L266L		NM_001144.5	NP_001135.3	Q9UKV5	AMFR2_HUMAN	autocrine motility factor receptor, E3 ubiquitin protein ligase	266					endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein oligomerization|protein polyubiquitination	integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding	p.L266L(1)		NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						ACAGGAGAGTGAGCTCCATGA	0.478000													7	37					0	0	0.001984	0	0
OR6T1	219874	broad.mit.edu	37	11	123814283	123814283	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr11:123814283C>A	ENST00000321252.2	-	1	297	c.263G>T	c.(262-264)gGg>gTg	p.G88V		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	88					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G88V(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		GGTGTGATCCCCCGTGAGGAT	0.498000													30	79					3.99451e-17	6.5713e-17	0.009535	1	0
ZC3H6	376940	broad.mit.edu	37	2	113089652	113089652	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr2:113089652G>T	ENST00000409871.1	+	12	3558	c.3157G>T	c.(3157-3159)Gat>Tat	p.D1053Y	ZC3H6_ENST00000343936.4_Missense_Mutation_p.D1053Y	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	1053							nucleic acid binding|zinc ion binding	p.D1053Y(1)		central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						TGACCCTAGGGATCACGGTTC	0.453000													11	31					0.000673444	0.000752415	0.008291	1	0
PYHIN1	149628	broad.mit.edu	37	1	158911940	158911940	+	Missense_Mutation	SNP	T	T	G			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr1:158911940T>G	ENST00000368140.1	+	5	998	c.753T>G	c.(751-753)caT>caG	p.H251Q	PYHIN1_ENST00000368138.3_Missense_Mutation_p.H242Q|PYHIN1_ENST00000485134.1_3'UTR|PYHIN1_ENST00000392252.3_Missense_Mutation_p.H242Q|PYHIN1_ENST00000392254.2_Missense_Mutation_p.H251Q	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	251	HIN-200.				cell cycle	nuclear speck		p.H251Q(1)		breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					AGTTCTTTCATGTGAAGGTTT	0.323000													11	18					0	0	0.013537	0	0
THSD7B	80731	broad.mit.edu	37	2	138169390	138169390	+	Silent	SNP	C	C	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr2:138169390C>A	ENST00000409968.1	+	14	3085	c.2907C>A	c.(2905-2907)gcC>gcA	p.A969A	THSD7B_ENST00000272643.3_Silent_p.A969A|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Silent_p.A938A					thrombospondin, type I, domain containing 7B									p.A938A(1)|p.A969A(1)		NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GAGCAGTAGCCTGTTCTGATA	0.512000													22	46					7.41877e-09	1.00978e-08	0.012319	1	0
ANKRD34B	340120	broad.mit.edu	37	5	79855837	79855837	+	Translation_Start_Site	SNP	A	A	G			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr5:79855837A>G	ENST00000338682.3	-	5	674	c.2T>C	c.(1-3)aTg>aCg	p.M1T		NM_001004441.2	NP_001004441.2	A5PLL1	AN34B_HUMAN	ankyrin repeat domain 34B	1						cytoplasm|nucleus		p.M1T(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		ACCTTCATCCATCTTCGGAGG	0.423000													7	13					0	0	0.001984	0	0
IGKV1-17	28937	broad.mit.edu	37	2	89417281	89417281	+	RNA	SNP	G	G	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr2:89417281G>A	ENST00000490686.1	-	0	54																											AGGAGCCCCAGGAGCTGAGCG	0.537000													6	234					0	0	0.008291	0	0
HOXA1	3198	broad.mit.edu	37	7	27134888	27134888	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr7:27134888G>T	ENST00000343060.4	-	1	705	c.644C>A	c.(643-645)cCc>cAc	p.P215H	HOXA1_ENST00000355633.5_3'UTR	NM_005522.4	NP_005513.1	P49639	HXA1_HUMAN	homeobox A1	215						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P215H(1)		endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						ACCTGTTTTGGGAGGGTTTCT	0.473000													22	39					1.96292e-10	2.75935e-10	0.010504	1	0
TSHZ3	57616	broad.mit.edu	37	19	31769817	31769817	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr19:31769817C>A	ENST00000240587.4	-	2	1209	c.882G>T	c.(880-882)atG>atT	p.M294I		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	294					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.M111I(1)|p.M294I(1)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TTGTTTTGATCATATGGACAC	0.517000													36	71					2.20474e-14	3.47689e-14	0.003755	1	0
ZDHHC3	51304	broad.mit.edu	37	3	44986781	44986781	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr3:44986781C>T	ENST00000296127.3	-	3	583	c.310G>A	c.(310-312)Gca>Aca	p.A104T	ZDHHC3_ENST00000424952.2_Missense_Mutation_p.A104T|ZDHHC3_ENST00000342790.4_Missense_Mutation_p.A138T	NM_016598.2	NP_057682.1	Q9NYG2	ZDHC3_HUMAN	zinc finger, DHHC-type containing 3	104						Golgi membrane|integral to membrane	zinc ion binding	p.A104T(1)		endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(193;0.00943)|KIRC - Kidney renal clear cell carcinoma(197;0.053)|Kidney(197;0.0665)		TTGGGCACTGCCCCCTGTAGG	0.488000													5	152					0	0	0.000602	0	0
LAMA4	3910	broad.mit.edu	37	6	112460960	112460960	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr6:112460960C>T	ENST00000230538.7	-	23	3501	c.3104G>A	c.(3103-3105)tGt>tAt	p.C1035Y	LAMA4_ENST00000424408.2_Missense_Mutation_p.C1028Y|LAMA4_ENST00000389463.4_Missense_Mutation_p.C1028Y|LAMA4_ENST00000522006.1_Missense_Mutation_p.C1028Y	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	1035	Laminin G-like 1.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	p.C1028Y(1)		NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TTACCGGGCACATGGCACTGA	0.408000													22	85					0	0	0.014323	0	0
NRCAM	4897	broad.mit.edu	37	7	107790398	107790398	+	Nonsense_Mutation	SNP	G	G	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr7:107790398G>T	ENST00000379028.3	-	33	4342	c.3872C>A	c.(3871-3873)tCa>tAa	p.S1291*	NRCAM_ENST00000425651.2_Nonsense_Mutation_p.S1291*|NRCAM_ENST00000413765.2_Nonsense_Mutation_p.S1167*|NRCAM_ENST00000379024.4_Nonsense_Mutation_p.S1179*|NRCAM_ENST00000351718.4_Nonsense_Mutation_p.S1170*|NRCAM_ENST00000522550.2_5'UTR			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	1291					angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding	p.S1170*(1)|p.S1291*(1)		breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						AGGTGCCTCTGAGCTTTCGTT	0.413000													300	116					1.66838e-123	3.18805e-123	0.014410	1	0
UROC1	131669	broad.mit.edu	37	3	126211293	126211293	+	Missense_Mutation	SNP	T	T	C			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr3:126211293T>C	ENST00000290868.2	-	16	1629	c.1576A>G	c.(1576-1578)Att>Gtt	p.I526V	UROC1_ENST00000383579.3_Missense_Mutation_p.I586V	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	526					histidine catabolic process	cytosol	urocanate hydratase activity	p.I526V(1)|p.I586V(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		GCCTGGTTAATGGCCACAGCG	0.617000													11	8					0	0	0.008291	0	0
OR5H15	403274	broad.mit.edu	37	3	97888150	97888150	+	Missense_Mutation	SNP	T	T	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr3:97888150T>A	ENST00000356526.2	+	1	607	c.607T>A	c.(607-609)Tca>Aca	p.S203T		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	203					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S203T(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						TTTTATTTTCTCAGGTTCAAT	0.313000													7	34					0	0	0.003080	0	0
JAKMIP3	282973	broad.mit.edu	37	10	133930853	133930853	+	Silent	SNP	G	G	C			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr10:133930853G>C	ENST00000298622.4	+	2	546	c.408G>C	c.(406-408)ctG>ctC	p.L136L		NM_001105521.2	NP_001098991.1			Janus kinase and microtubule interacting protein 3									p.L136L(1)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		CCGTGCTGCTGTCCGAGGCCA	0.607000													11	77					0	0	0.002450	0	0
ZP4	57829	broad.mit.edu	37	1	238048492	238048492	+	Silent	SNP	T	T	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr1:238048492T>A	ENST00000366570.4	-	9	1442	c.1284A>T	c.(1282-1284)acA>acT	p.T428T	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	428	ZP.				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity	p.T428T(1)		breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			GTTTCTCCACTGTAGGGTTCA	0.532000													24	29					0	0	0.014323	0	0
SLC17A4	10050	broad.mit.edu	37	6	25777188	25777188	+	Splice_Site	SNP	G	G	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr6:25777188G>T	ENST00000377905.4	+	10	1387		c.e10+1		SLC17A4_ENST00000439485.2_Splice_Site|SLC17A4_ENST00000397076.2_Silent_p.R221R	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN	solute carrier family 17, member 4						phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity	p.?(1)		breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TTGCTCCTCGGTAGGGACCTC	0.473000													23	86					1.85244e-09	2.55689e-09	0.003330	1	0
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	A	G			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr9:20414343A>G	ENST00000380338.4	-	5	787	c.501T>C	c.(499-501)agT>agC	p.S167S	MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	167	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S167S(19)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgc	0.532000			T	MLL	ALL								3	34					0	0	0.004672	0	0
OR4A16	81327	broad.mit.edu	37	11	55110712	55110712	+	Silent	SNP	C	C	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr11:55110712C>A	ENST00000314721.2	+	1	86	c.36C>A	c.(34-36)ctC>ctA	p.L12L		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	12					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L12L(1)		NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						AATTTGTCCTCCTGGGCCTCA	0.388000													11	46					1.58986e-06	1.95807e-06	0.008291	1	0
SCN7A	6332	broad.mit.edu	37	2	167322326	167322326	+	Missense_Mutation	SNP	A	A	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr2:167322326A>T	ENST00000409855.1	-	7	962	c.836T>A	c.(835-837)cTg>cAg	p.L279Q		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	279					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.L279Q(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						TCTGTTGTGCAGGGTTTCATT	0.383000													16	93					0	0	0.004007	0	0
ATP7A	538	broad.mit.edu	37	X	77266706	77266706	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chrX:77266706G>T	ENST00000341514.6	+	8	2058	c.1903G>T	c.(1903-1905)Gat>Tat	p.D635Y	ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Missense_Mutation_p.D635Y	NM_000052.5	NP_000043.3	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	635					ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity	p.D635Y(2)		breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						GGTCAAGAAGGATCGGTCAGC	0.303000													7	121					0.00198382	0.00218093	0.001984	1	0
GPR112	139378	broad.mit.edu	37	X	135428834	135428834	+	Missense_Mutation	SNP	T	T	C			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chrX:135428834T>C	ENST00000394143.1	+	6	3260	c.2969T>C	c.(2968-2970)tTg>tCg	p.L990S	GPR112_ENST00000370652.1_Missense_Mutation_p.L990S|GPR112_ENST00000412101.1_Missense_Mutation_p.L785S|GPR112_ENST00000287534.4_Missense_Mutation_p.L927S|GPR112_ENST00000394141.1_Missense_Mutation_p.L785S	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	990					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.L990S(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GCTACGTCCTTGTCTGATGGT	0.493000													20	256					0	0	0.008871	0	0
NEK1	4750	broad.mit.edu	37	4	170345816	170345816	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr4:170345816G>A	ENST00000439128.2	-	29	3666	c.3026C>T	c.(3025-3027)cCa>cTa	p.P1009L	NEK1_ENST00000512193.1_Missense_Mutation_p.P940L|NEK1_ENST00000510533.1_Missense_Mutation_p.P965L|NEK1_ENST00000507142.1_Missense_Mutation_p.P1037L|NEK1_ENST00000511633.1_Missense_Mutation_p.P993L	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	1009					cell division|cilium assembly|mitosis	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.P1037L(2)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		GGATTCTTCTGGTGAACACTG	0.393000													22	60					0	0	0.003330	0	0
TNS1	7145	broad.mit.edu	37	2	218713343	218713343	+	Nonsense_Mutation	SNP	G	G	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr2:218713343G>A	ENST00000171887.4	-	17	1974	c.1522C>T	c.(1522-1524)Cag>Tag	p.Q508*	TNS1_ENST00000430930.1_Nonsense_Mutation_p.Q508*|TNS1_ENST00000480665.1_5'UTR|TNS1_ENST00000419504.1_Nonsense_Mutation_p.Q508*	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	508						cytoplasm|cytoskeleton|focal adhesion	actin binding	p.Q508*(1)|p.Q633*(1)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		TGACCATCCTGGTTTGGCAAT	0.607000													17	60					0	0	0.004990	0	0
BCKDHB	594	broad.mit.edu	37	6	80878601	80878601	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr6:80878601G>A	ENST00000545529.1	+	5	515	c.487G>A	c.(487-489)Gaa>Aaa	p.E163K	BCKDHB_ENST00000356489.5_Missense_Mutation_p.E163K|BCKDHB_ENST00000369760.4_Missense_Mutation_p.E163K|BCKDHB_ENST00000320393.6_Missense_Mutation_p.E163K			P21953	ODBB_HUMAN	branched chain keto acid dehydrogenase E1, beta polypeptide	163					branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|carboxy-lyase activity|protein binding	p.E163K(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(1)	15		all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149)		BRCA - Breast invasive adenocarcinoma(397;0.0291)		GATTGTTAATGAAGCTGCCAA	0.522000													12	62					0	0	0.013537	0	0
PLXNB2	23654	broad.mit.edu	37	22	50724601	50724601	+	Splice_Site	SNP	C	C	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr22:50724601C>T	ENST00000449103.1	-	9	2018		c.e9+1		PLXNB2_ENST00000496720.1_Splice_Site|PLXNB2_ENST00000359337.4_Splice_Site			O15031	PLXB2_HUMAN	plexin B2						regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity	p.?(1)		breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		AAGACACTCACGGCAGGTTCT	0.627000													10	86					0	0	0.008291	0	0
SP100	6672	broad.mit.edu	37	2	231311581	231311581	+	Nonsense_Mutation	SNP	G	G	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr2:231311581G>T	ENST00000264052.5	+	5	842	c.487G>T	c.(487-489)Gag>Tag	p.E163*	SP100_ENST00000409824.1_Nonsense_Mutation_p.E138*|SP100_ENST00000409897.1_Nonsense_Mutation_p.E128*|SP100_ENST00000341950.4_Nonsense_Mutation_p.E163*|SP100_ENST00000427101.2_Nonsense_Mutation_p.E138*|SP100_ENST00000409112.1_Nonsense_Mutation_p.E163*|SP100_ENST00000409341.1_Nonsense_Mutation_p.E163*|SP100_ENST00000340126.4_Nonsense_Mutation_p.E163*	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	163	Poly-Glu.				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding	p.E163*(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		AGAAGAGAGGGAGGAGAGGTC	0.438000													3	14					0.00024832	0.000280638	0.009096	1	0
DOT1L	84444	broad.mit.edu	37	19	2216346	2216346	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr19:2216346C>G	ENST00000398665.3	+	20	2026	c.1990C>G	c.(1990-1992)Ccg>Gcg	p.P664A		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	664						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding	p.P664A(2)		NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTCCTGTGTGCCGCCTGACGA	0.677000													12	27					0	0	0.013537	0	0
SLC26A2	1836	broad.mit.edu	37	5	149357616	149357616	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr5:149357616G>T	ENST00000286298.4	+	2	669	c.401G>T	c.(400-402)gGc>gTc	p.G134V		NM_000112.3	NP_000103.2	P50443	S26A2_HUMAN	solute carrier family 26 (anion exchanger), member 2	134						integral to plasma membrane|membrane fraction	secondary active sulfate transmembrane transporter activity	p.G134V(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CTGCTGGCTGGCCAAGAACCT	0.438000													35	54					1.56738e-10	2.23077e-10	0.004289	1	0
RBFOX1	54715	broad.mit.edu	37	16	7760649	7760649	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr16:7760649G>A	ENST00000340209.4	+	13	1408	c.1111G>A	c.(1111-1113)Gcc>Acc	p.A371T	RBFOX1_ENST00000553186.1_Missense_Mutation_p.A339T|RBFOX1_ENST00000436368.2_Intron|RBFOX1_ENST00000550418.1_Missense_Mutation_p.A366T|RBFOX1_ENST00000552089.1_3'UTR|RBFOX1_ENST00000355637.4_3'UTR|RBFOX1_ENST00000311745.5_Missense_Mutation_p.A387T|RBFOX1_ENST00000547338.1_Missense_Mutation_p.A366T|RBFOX1_ENST00000547372.1_3'UTR			Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	366					mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding	p.A366T(1)|p.A387T(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						TTTGACTGATGCCAAGACTAG	0.408000													44	61					0	0	0.011902	0	0
SEC31B	25956	broad.mit.edu	37	10	102256170	102256170	+	Missense_Mutation	SNP	T	T	C			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr10:102256170T>C	ENST00000370345.3	-	18	2252	c.2155A>G	c.(2155-2157)Atg>Gtg	p.M719V		NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	719					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane		p.M719V(1)		NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		TTAAGAACCATCACCTTCTCC	0.557000													9	67					0	0	0.006214	0	0
OR13C9	286362	broad.mit.edu	37	9	107380045	107380045	+	Silent	SNP	C	C	G			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr9:107380045C>G	ENST00000259362.1	-	1	440	c.441G>C	c.(439-441)ggG>ggC	p.G147G		NM_001001956.1	NP_001001956.1	Q8NGT0	O13C9_HUMAN	olfactory receptor, family 13, subfamily C, member 9	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G147G(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4)	22						CAAACCAGGACCCAACAGCCA	0.448000													30	69					0	0	0.006320	0	0
ENPP6	133121	broad.mit.edu	37	4	185045347	185045347	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr4:185045347G>A	ENST00000296741.2	-	3	641	c.500C>T	c.(499-501)gCc>gTc	p.A167V		NM_153343.3	NP_699174.1	Q6UWR7	ENPP6_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 6	167					lipid catabolic process	extracellular region|integral to membrane|plasma membrane		p.A167V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		GACTGCATTGGCAAAATTGAT	0.443000													4	230					0	0	0.000602	0	0
SAFB2	9667	broad.mit.edu	37	19	5587938	5587938	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr19:5587938C>A	ENST00000252542.4	-	19	2843	c.2579G>T	c.(2578-2580)cGc>cTc	p.R860L		NM_014649.2	NP_055464.1	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	860	Gly-rich.|Interacts with SAFB1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding	p.R860L(1)		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)		CTGCCAGGCGCGTGCCTGGTG	0.667000													7	9					1.12685e-05	1.32821e-05	0.004482	1	0
OR2T33	391195	broad.mit.edu	37	1	248436317	248436317	+	Missense_Mutation	SNP	T	T	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr1:248436317T>A	ENST00000318021.2	-	1	821	c.800A>T	c.(799-801)aAc>aTc	p.N267I		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.N267I(1)		NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|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;0.0245)			CTTGTCATGGTTAGTGGACCT	0.473000													33	198					0	0	0.003755	0	0
RYR3	6263	broad.mit.edu	37	15	33822838	33822838	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr15:33822838G>C	ENST00000389232.4	+	4	395	c.325G>C	c.(325-327)Gtt>Ctt	p.V109L	RYR3_ENST00000415757.3_Missense_Mutation_p.V109L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	109	MIR 1.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.V109L(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CGGCCATGCAGTTCTCCTGAG	0.527000													7	18					0	0	0.004482	0	0
P2RX2	22953	broad.mit.edu	37	12	133196643	133196643	+	Missense_Mutation	SNP	T	T	G			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr12:133196643T>G	ENST00000389110.3	+	5	552	c.515T>G	c.(514-516)gTg>gGg	p.V172G	P2RX2_ENST00000352418.4_Missense_Mutation_p.V100G|P2RX2_ENST00000343948.4_Missense_Mutation_p.V172G|P2RX2_ENST00000348800.5_Missense_Mutation_p.V172G|P2RX2_ENST00000351222.4_Missense_Mutation_p.V80G|P2RX2_ENST00000449132.2_Silent_p.G136G|P2RX2_ENST00000350048.5_Missense_Mutation_p.V148G	NM_170682.2|NM_170683.2|NM_174873.1	NP_733782.1|NP_733783.1|NP_777362.1	Q9UBL9	P2RX2_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 2	172					positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|protein homooligomerization	integral to membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity	p.V172G(1)		NS(1)|breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(8)|ovary(1)|prostate(3)	20	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0767)		OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06)		ACCTGCGAGGTGTTCGGCTGG	0.677000													4	4					0	0	0.009096	0	0
ACE2	59272	broad.mit.edu	37	X	15603664	15603664	+	Silent	SNP	C	C	G			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chrX:15603664C>G	ENST00000427411.1	-	8	1050	c.834G>C	c.(832-834)ctG>ctC	p.L278L	ACE2_ENST00000252519.3_Silent_p.L278L	NM_021804.2	NP_068576.1	Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2	278					angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding	p.L278L(1)		endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Moexipril(DB00691)	TCAAAGAGTACAGATTTGTCC	0.328000													11	169					0	0	0.010729	0	0
LUZP2	338645	broad.mit.edu	37	11	25004827	25004827	+	Silent	SNP	G	G	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr11:25004827G>T	ENST00000533227.1	+	9	782	c.495G>T	c.(493-495)gcG>gcT	p.A165A	LUZP2_ENST00000336930.6_Silent_p.A251A	NM_001009909.3|NM_001252008.1	NP_001009909.2|NP_001238937.1	Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	251	Leucine-zipper.					extracellular region		p.A251A(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						CAGATGCAGCGGCCAAAAGCA	0.433000													24	33					2.21704e-12	3.2637e-12	0.002780	1	0
CHORDC1	26973	broad.mit.edu	37	11	89947237	89947237	+	Missense_Mutation	SNP	T	T	C			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr11:89947237T>C	ENST00000320585.6	-	4	687	c.278A>G	c.(277-279)cAg>cGg	p.Q93R	CHORDC1_ENST00000530765.1_Missense_Mutation_p.Q93R|CHORDC1_ENST00000457199.2_Missense_Mutation_p.Q74R	NM_012124.2	NP_036256.2	Q9UHD1	CHRD1_HUMAN	cysteine and histidine-rich domain (CHORD) containing 1	93	Interaction with HSP90AA1 and HSP90AB1 (By similarity).				chaperone-mediated protein folding|regulation of response to stress|response to stress		Hsp90 protein binding|identical protein binding	p.Q93R(1)		endometrium(2)|large_intestine(2)|liver(1)|lung(6)	11		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.00915)				GATGTGTTCCTGAAATTTGGG	0.378000													45	143					0	0	0.014410	0	0
CD99L2	83692	broad.mit.edu	37	X	149945946	149945946	+	Missense_Mutation	SNP	C	C	G	rs143706982		TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chrX:149945946C>G	ENST00000370377.3	-	8	623	c.506G>C	c.(505-507)cGg>cCg	p.R169P	CD99L2_ENST00000466436.1_Missense_Mutation_p.R120P|CD99L2_ENST00000437787.2_Missense_Mutation_p.R96P|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000355149.3_Missense_Mutation_p.R97P	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2	169					cell adhesion	cell junction|integral to membrane		p.R169P(1)		endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GCTGCCGTACCGGCCATCACC	0.567000													11	92					0	0	0.001855	0	0
OR5T1	390155	broad.mit.edu	37	11	56043707	56043707	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr11:56043707C>A	ENST00000313033.2	+	1	679	c.593C>A	c.(592-594)gCt>gAt	p.A198D		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	198					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A198D(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					CCTCTGCTTGCTATTTCTTGT	0.398000													130	173					1.19401e-59	2.26268e-59	0.014410	1	0
AKAP6	9472	broad.mit.edu	37	14	33291371	33291371	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr14:33291371C>T	ENST00000280979.4	+	13	4522	c.4352C>T	c.(4351-4353)cCt>cTt	p.P1451L	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1451					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	p.P1451L(1)		NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		AAACATACCCCTGACTGTTTG	0.363000													10	44					0	0	0.008291	0	0
MICU3	286097	broad.mit.edu	37	8	16956024	16956024	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr8:16956024C>G	ENST00000318063.5	+	9	988	c.946C>G	c.(946-948)Cgt>Ggt	p.R316G		NM_181723.2	NP_859074.1			mitochondrial calcium uptake family, member 3									p.R316G(1)									TACACTGAGACGTAACACAAG	0.388000													59	94					0	0	0.014410	0	0
OR8J3	81168	broad.mit.edu	37	11	55904620	55904620	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr11:55904620G>C	ENST00000301529.1	-	1	574	c.575C>G	c.(574-576)aCt>aGt	p.T192S		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	192					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T192S(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					TGGTATGTAAGTATCAGAGCA	0.303000													22	120					0	0	0.010504	0	0
NAV3	89795	broad.mit.edu	37	12	78591054	78591054	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr12:78591054G>T	ENST00000397909.2	+	35	6492	c.6319G>T	c.(6319-6321)Gct>Tct	p.A2107S	NAV3_ENST00000266692.7_Missense_Mutation_p.A1908S|NAV3_ENST00000536525.2_Missense_Mutation_p.A2085S|NAV3_ENST00000228327.6_Missense_Mutation_p.A2085S			Q8IVL0	NAV3_HUMAN	neuron navigator 3	2107						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	p.A2085S(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AGCTAACCTGGCTGAACAGTG	0.348000										HNSCC(70;0.22)			21	24					4.4004e-07	5.57981e-07	0.003330	1	0
GRIA2	2891	broad.mit.edu	37	4	158262431	158262431	+	Silent	SNP	C	C	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr4:158262431C>A	ENST00000296526.7	+	12	2185	c.1860C>A	c.(1858-1860)cgC>cgA	p.R620R	GRIA2_ENST00000449365.1_Silent_p.R573R|GRIA2_ENST00000393815.2_Silent_p.R573R|GRIA2_ENST00000264426.9_Silent_p.R620R|GRIA2_ENST00000507898.1_Silent_p.R573R	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	620					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.R620R(2)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	TCTCTGGGCGCATTGTTGGAG	0.408000													25	142					6.32553e-13	9.51604e-13	0.004656	1	0
GPR158	57512	broad.mit.edu	37	10	25887427	25887427	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr10:25887427C>A	ENST00000376351.3	+	11	3231	c.2872C>A	c.(2872-2874)Ccc>Acc	p.P958T	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	958						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.P958T(1)		breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						AGATCCTGCCCCCCAAAACTC	0.438000													29	66					1.26454e-06	1.57437e-06	0.005443	1	0
TM7SF2	7108	broad.mit.edu	37	11	64882402	64882402	+	Silent	SNP	C	C	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr11:64882402C>T	ENST00000279263.7	+	7	903	c.741C>T	c.(739-741)acC>acT	p.T247T	TM7SF2_ENST00000540748.1_Silent_p.T131T|TM7SF2_ENST00000345348.5_Silent_p.T247T|TM7SF2_ENST00000531029.1_3'UTR	NM_003273.2	NP_003264.2	O76062	ERG24_HUMAN	transmembrane 7 superfamily member 2	247					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane	delta14-sterol reductase activity	p.T247T(1)		lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TCCTCACCACCATGGATATCA	0.617000													70	158					0	0	0.014410	0	0
USP29	57663	broad.mit.edu	37	19	57640280	57640280	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr19:57640280C>A	ENST00000254181.4	+	4	691	c.237C>A	c.(235-237)aaC>aaA	p.N79K	USP29_ENST00000598197.1_Missense_Mutation_p.N79K	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	79					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	p.N79K(1)		breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TGAAAAACAACGTGTTCTTGT	0.333000													10	18					0.000673444	0.000752415	0.008291	1	0
UGT2B28	54490	broad.mit.edu	37	4	70146539	70146539	+	Missense_Mutation	SNP	A	A	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr4:70146539A>T	ENST00000335568.5	+	1	323	c.321A>T	c.(319-321)ttA>ttT	p.L107F	UGT2B28_ENST00000511240.1_Missense_Mutation_p.L107F	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	107					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.L107_Y108>FH(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	GCTTTTGGTTATATTTTTCAC	0.294000													37	123					0	0	0.007835	0	0
NEUROD1	4760	broad.mit.edu	37	2	182543486	182543486	+	Silent	SNP	G	G	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr2:182543486G>A	ENST00000295108.3	-	2	559	c.102C>T	c.(100-102)caC>caT	p.H34H	CERKL_ENST00000479558.1_Intron|NEUROD1_ENST00000496876.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	34					amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding	p.H34H(1)		endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			TGTCTGCCTCGTGCTCCTCGT	0.587000													5	16					0	0	0.000602	0	0
PLEKHB2	55041	broad.mit.edu	37	2	131883346	131883346	+	Nonsense_Mutation	SNP	A	A	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr2:131883346A>T	ENST00000403716.1	+	3	618	c.58A>T	c.(58-60)Aag>Tag	p.K20*	PLEKHB2_ENST00000404460.1_Nonsense_Mutation_p.K20*|PLEKHB2_ENST00000438882.2_Nonsense_Mutation_p.K20*|PLEKHB2_ENST00000538982.1_De_novo_Start_InFrame|PLEKHB2_ENST00000409279.1_Nonsense_Mutation_p.K20*|PLEKHB2_ENST00000234115.6_Nonsense_Mutation_p.K20*|PLEKHB2_ENST00000303908.3_Nonsense_Mutation_p.K20*|PLEKHB2_ENST00000409612.1_Nonsense_Mutation_p.K20*|PLEKHB2_ENST00000439822.2_Nonsense_Mutation_p.K20*|PLEKHB2_ENST00000409158.1_Nonsense_Mutation_p.K20*	NM_001100623.1|NM_001267062.1|NM_001267063.1|NM_001267064.1|NM_001267065.1|NM_001267066.1|NM_017958.2	NP_001094093.1|NP_001253991.1|NP_001253992.1|NP_001253993.1|NP_001253994.1|NP_001253995.1|NP_060428.2	Q96CS7	PKHB2_HUMAN	pleckstrin homology domain containing, family B (evectins) member 2	20	PH.					membrane	protein binding	p.K20*(2)		large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				BRCA - Breast invasive adenocarcinoma(221;0.0828)		GAAGCGCTGGAAGAAGAACTG	0.418000													9	31					0	0	0.004482	0	0
TLR4	7099	broad.mit.edu	37	9	120476015	120476015	+	Missense_Mutation	SNP	A	A	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr9:120476015A>T	ENST00000355622.6	+	3	1710	c.1609A>T	c.(1609-1611)Acg>Tcg	p.T537S	TLR4_ENST00000394487.4_Missense_Mutation_p.T497S|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	537					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.T537S(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						TTCATTGGATACGTTTCCTTA	0.403000													19	33					0	0	0.012319	0	0
KIAA0195	9772	broad.mit.edu	37	17	73488697	73488697	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr17:73488697C>T	ENST00000314256.7	+	15	2133	c.1739C>T	c.(1738-1740)aCc>aTc	p.T580I	KIAA0195_ENST00000579208.1_Missense_Mutation_p.T231I|KIAA0195_ENST00000375248.5_Missense_Mutation_p.T590I	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	580					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism	p.T580I(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CTGCACCTCACCTCCCTCAAA	0.592000													13	62					0	0	0.013537	0	0
GATAD2A	54815	broad.mit.edu	37	19	19611940	19611940	+	Silent	SNP	G	G	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr19:19611940G>A	ENST00000404158.1	+	11	1636	c.1218G>A	c.(1216-1218)tcG>tcA	p.S406S	GATAD2A_ENST00000537887.1_Silent_p.S34S|GATAD2A_ENST00000358713.3_Silent_p.S405S|GATAD2A_ENST00000360315.3_Silent_p.S405S|GATAD2A_ENST00000429563.2_Silent_p.S233S|GATAD2A_ENST00000252577.5_Silent_p.S405S			Q86YP4	P66A_HUMAN	GATA zinc finger domain containing 2A	405					DNA methylation|negative regulation of transcription, DNA-dependent	nuclear speck|NuRD complex	protein binding, bridging|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S405S(1)|p.S262S(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13						GCAGGATGTCGGCCGCCACTG	0.657000													4	42					0	0	0.009096	0	0
NLGN1	22871	broad.mit.edu	37	3	173322580	173322580	+	Silent	SNP	G	G	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr3:173322580G>T	ENST00000457714.1	+	3	621	c.192G>T	c.(190-192)ggG>ggT	p.G64G	NLGN1_ENST00000401917.3_Silent_p.G64G|NLGN1_ENST00000361589.4_Silent_p.G64G|NLGN1_ENST00000545397.1_Silent_p.G64G	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	64					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity	p.G64G(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			AGATAAGAGGGATTAAGAAGG	0.453000													91	68					5.66823e-36	1.04809e-35	0.014410	1	0
PTPN2	5771	broad.mit.edu	37	18	12814257	12814257	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr18:12814257G>A	ENST00000309660.5	-	7	896	c.803C>T	c.(802-804)tCa>tTa	p.S268L	PTPN2_ENST00000591115.1_Missense_Mutation_p.S291L|PTPN2_ENST00000353319.4_Missense_Mutation_p.S268L|PTPN2_ENST00000327283.3_Missense_Mutation_p.S268L|PTPN2_ENST00000591497.1_Missense_Mutation_p.S239L	NM_002828.3	NP_002819.2	P17706	PTN2_HUMAN	protein tyrosine phosphatase, non-receptor type 2	268	Tyrosine-protein phosphatase.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway	endoplasmic reticulum|nucleoplasm	protein binding	p.S268L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1)|skin(3)	13		Lung NSC(161;8.94e-06)				AGCCATGTATGAGAATCTCAG	0.323000													9	25					0	0	0.006214	0	0
GGTLC1	92086	broad.mit.edu	37	20	23967157	23967157	+	Missense_Mutation	SNP	A	A	G			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr20:23967157A>G	ENST00000335694.4	-	2	296	c.92T>C	c.(91-93)aTg>aCg	p.M31T	GGTLC1_ENST00000286890.4_Missense_Mutation_p.M31T|GGTLC1_ENST00000278765.4_Missense_Mutation_p.M31T	NM_178311.2	NP_842563.1	Q9BX51	GGTL1_HUMAN	gamma-glutamyltransferase light chain 1	31							gamma-glutamyltransferase activity	p.M31T(6)		NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						GTCATCCGGCATGTAGAACTC	0.622000													4	78					0	0	0.000602	0	0
RIMS2	9699	broad.mit.edu	37	8	105001577	105001577	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr8:105001577G>A	ENST00000507740.1	+	14	2584	c.2348G>A	c.(2347-2349)gGa>gAa	p.G783E	RIMS2_ENST00000262231.10_Missense_Mutation_p.G830E|RIMS2_ENST00000406091.3_Missense_Mutation_p.G991E|RIMS2_ENST00000436393.2_Missense_Mutation_p.G769E	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1053					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	p.G783E(2)|p.G991E(1)|p.G769E(1)|p.G1058E(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			ACTATGACCGGACATTATAAT	0.383000										HNSCC(12;0.0054)			23	72					0	0	0.002780	0	0
OR52L1	338751	broad.mit.edu	37	11	6007894	6007894	+	Silent	SNP	C	C	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr11:6007894C>A	ENST00000332249.4	-	1	321	c.267G>T	c.(265-267)ctG>ctT	p.L89L		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, member 1	89					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L74L(1)|p.L89L(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGCCAGAACCAGGTCGATGG	0.522000													9	11					7.48243e-07	9.401e-07	0.006214	1	0
ZFHX3	463	broad.mit.edu	37	16	72821618	72821618	+	Silent	SNP	A	A	G	rs112443847		TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr16:72821618A>G	ENST00000268489.5	-	10	11229	c.10557T>C	c.(10555-10557)ggT>ggC	p.G3519G	ZFHX3_ENST00000397992.5_Silent_p.G2605G|AC004943.1_ENST00000584072.1_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3519	Poly-Gly.				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.G3519G(3)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				cgccgccgccaccgccgccgc	0.716000													3	23					0	0	0.000602	0	0
KIF2B	84643	broad.mit.edu	37	17	51900967	51900967	+	Silent	SNP	C	C	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr17:51900967C>A	ENST00000268919.4	+	1	729	c.573C>A	c.(571-573)atC>atA	p.I191I		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	191					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	p.I191I(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TGCACATGATCGAAGAGTATC	0.582000													12	54					2.27111e-07	2.91757e-07	0.013537	1	0
SNTB1	6641	broad.mit.edu	37	8	121706136	121706136	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr8:121706136C>G	ENST00000395601.3	-	3	998	c.584G>C	c.(583-585)cGa>cCa	p.R195P	SNTB1_ENST00000517992.1_Missense_Mutation_p.R195P|SNTB1_ENST00000519177.1_5'UTR	NM_021021.3	NP_066301.1	Q13884	SNTB1_HUMAN	syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)	195	PDZ.|PH 1.				muscle contraction	cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|calmodulin binding	p.R195L(1)|p.R195P(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)			CGTGGCTTCTCGCATGTACTT	0.483000													49	65					0	0	0.014410	0	0
LYST	1130	broad.mit.edu	37	1	235969162	235969162	+	Missense_Mutation	SNP	T	T	C			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr1:235969162T>C	ENST00000389794.3	-	6	3448	c.3274A>G	c.(3274-3276)Aca>Gca	p.T1092A	LYST_ENST00000536965.1_Missense_Mutation_p.T1092A|LYST_ENST00000389793.2_Missense_Mutation_p.T1092A			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1092					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	p.T1092A(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TCTTGACTTGTAAATAGCTTT	0.418000													10	73					0	0	0.006214	0	0
EFCAB3	146779	broad.mit.edu	37	17	60484501	60484501	+	Silent	SNP	G	G	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr17:60484501G>A	ENST00000450662.2	+	10	1022	c.951G>A	c.(949-951)gaG>gaA	p.E317E	EFCAB3_ENST00000305286.3_Silent_p.E265E	NM_001144933.1	NP_001138405.1	Q8N7B9	EFCB3_HUMAN	EF-hand calcium binding domain 3	265							calcium ion binding	p.E265E(1)		cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)	17			BRCA - Breast invasive adenocarcinoma(2;2.27e-11)			AGAAATTAGAGATGCTAAGAA	0.368000													26	66					0	0	0.003954	0	0
MYOM3	127294	broad.mit.edu	37	1	24383886	24383886	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr1:24383886C>A	ENST00000330966.7	-	37	4453	c.4291G>T	c.(4291-4293)Ggg>Tgg	p.G1431W	RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000374434.3_Missense_Mutation_p.G1428W|MYOM3_ENST00000338909.5_Missense_Mutation_p.G321W			Q5VTT5	MYOM3_HUMAN	myomesin 3	1428								p.G1428W(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		GGCTCGTCCCCGTGCTTGAAC	0.567000													17	26					3.32936e-07	4.25315e-07	0.006122	1	0
AMER1	139285	broad.mit.edu	37	X	63412380	63412380	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chrX:63412380C>G	ENST00000330258.3	-	2	1059	c.787G>C	c.(787-789)Gag>Cag	p.E263Q	AMER1_ENST00000403336.1_Missense_Mutation_p.E263Q|AMER1_ENST00000374869.3_Missense_Mutation_p.E263Q	NM_152424.3	NP_689637.3			APC membrane recruitment protein 1									p.0?(67)|p.E263Q(2)									GCACAGGCCTCCATGGGTTTT	0.547000													16	215					0	0	0.004990	0	0
ZNF462	58499	broad.mit.edu	37	9	109687218	109687218	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr9:109687218C>G	ENST00000277225.5	+	3	1314	c.1025C>G	c.(1024-1026)tCt>tGt	p.S342C	ZNF462_ENST00000457913.1_Missense_Mutation_p.S342C			Q96JM2	ZN462_HUMAN	zinc finger protein 462	342					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S342C(1)		NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						TCGCCCATGTCTTACCCTCAG	0.483000													15	40					0	0	0.002450	0	0
COL25A1	84570	broad.mit.edu	37	4	109745304	109745304	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr4:109745304G>A	ENST00000399126.1	-	35	2401	c.1871C>T	c.(1870-1872)cCt>cTt	p.P624L	COL25A1_ENST00000399132.1_Intron|COL25A1_ENST00000399127.1_Missense_Mutation_p.P627L	NM_032518.2	NP_115907.2	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1	0	Collagen-like 7.					collagen|extracellular space	beta-amyloid binding|heparin binding	p.P624L(1)		NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		AATCAAACAAGGTACATGCTG	0.458000													15	57					0	0	0.003163	0	0
MAGED1	9500	broad.mit.edu	37	X	51639760	51639760	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chrX:51639760G>A	ENST00000375695.2	+	5	1330	c.1177G>A	c.(1177-1179)Gct>Act	p.A393T	MAGED1_ENST00000494718.1_3'UTR|MAGED1_ENST00000375772.3_Missense_Mutation_p.A337T|MAGED1_ENST00000375722.1_Missense_Mutation_p.A337T|MAGED1_ENST00000326587.7_Missense_Mutation_p.A337T	NM_001005333.1	NP_001005333.1	Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1	337	22 X 6 AA tandem repeats of W-[PQ]-X-P-X- X.|Pro-rich.				apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|plasma membrane|protein complex	protein binding	p.A393T(1)		breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					GAACCCAGTCGCTTGGCAGAA	0.612000										Multiple Myeloma(10;0.10)			14	53					0	0	0.006122	0	0
C1GALT1C1	29071	broad.mit.edu	37	X	119760065	119760065	+	Nonstop_Mutation	SNP	T	T	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chrX:119760065T>A	ENST00000304661.5	-	2	1195	c.957A>T	c.(955-957)tgA>tgT	p.*319C	C1GALT1C1_ENST00000371313.2_Nonstop_Mutation_p.*319C	NM_001011551.2	NP_001011551.1	Q96EU7	C1GLC_HUMAN	C1GALT1-specific chaperone 1	0						integral to membrane		p.*319C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	11						CTACCACTTCTCAGTCATTGT	0.373000													39	44					0	0	0.008740	0	0
NLRP3	114548	broad.mit.edu	37	1	247607377	247607377	+	Nonsense_Mutation	SNP	G	G	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr1:247607377G>T	ENST00000366497.2	+	7	3382	c.2602G>T	c.(2602-2604)Gga>Tga	p.G868*	NLRP3_ENST00000348069.2_Nonsense_Mutation_p.G811*|NLRP3_ENST00000366496.2_Nonsense_Mutation_p.G868*|NLRP3_ENST00000391827.2_Nonsense_Mutation_p.G868*|NLRP3_ENST00000336119.3_Nonsense_Mutation_p.G925*|NLRP3_ENST00000391828.3_Nonsense_Mutation_p.G925*	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	925					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.G925*(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)			CAACACTCTCGGAGACAAGGG	0.493000													36	59					6.90743e-12	1.0018e-11	0.003755	1	0
TMEM121	80757	broad.mit.edu	37	14	105995420	105995420	+	Silent	SNP	C	C	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr14:105995420C>T	ENST00000392519.2	+	2	413	c.249C>T	c.(247-249)atC>atT	p.I83I	TMEM121_ENST00000431372.1_Silent_p.I83I	NM_025268.2	NP_079544.1	Q9BTD3	TM121_HUMAN	transmembrane protein 121	83						integral to membrane		p.I83I(1)		endometrium(2)|lung(1)	3		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)	Epithelial(152;0.0959)|all cancers(159;0.235)		TCCTTTACATCTTCGTGCTGG	0.662000													4	17					0	0	0.000602	0	0
CHRNA4	1137	broad.mit.edu	37	20	61982063	61982063	+	Missense_Mutation	SNP	T	T	C			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr20:61982063T>C	ENST00000370263.4	-	5	921	c.700A>G	c.(700-702)Acc>Gcc	p.T234A	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	234					B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	p.T234A(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	AAGGCATAGGTGATGTCCGGG	0.592000													24	50					0	0	0.006320	0	0
LRP2	4036	broad.mit.edu	37	2	170063626	170063626	+	Missense_Mutation	SNP	T	T	C			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr2:170063626T>C	ENST00000263816.3	-	39	6889	c.6604A>G	c.(6604-6606)Aga>Gga	p.R2202G		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2202					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	p.R2202G(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AAGAGGTATCTGTTCTTGGGA	0.458000													27	127					0	0	0.009535	0	0
COL3A1	1281	broad.mit.edu	37	2	189856407	189856407	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr2:189856407G>C	ENST00000304636.3	+	13	1080	c.910G>C	c.(910-912)Gct>Cct	p.A304P	COL3A1_ENST00000317840.5_Missense_Mutation_p.A304P	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	304	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	p.A304_G309delAPGERG(1)|p.A304P(1)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TCCAAGAGGGGCTCCTGGTGA	0.463000													21	166					0	0	0.003330	0	0
HIST1H4I	8294	broad.mit.edu	37	6	27107390	27107390	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr6:27107390C>G	ENST00000354348.2	+	1	315	c.303C>G	c.(301-303)ttC>ttG	p.F101L	HIST1H2BK_ENST00000396891.4_Intron	NM_003495.2	NP_003486.1	P62805	H4_HUMAN	histone cluster 1, H4i	101					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	p.F101L(1)		lung(1)	1						TCTATGGCTTCGGCGGCTAAA	0.557000			T	BCL6	NHL								18	60					0	0	0.006122	0	0
KCNA6	3742	broad.mit.edu	37	12	4920341	4920341	+	Silent	SNP	G	G	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr12:4920341G>T	ENST00000433855.1	+	1	2000	c.1134G>T	c.(1132-1134)ctG>ctT	p.L378L	KCNA6_ENST00000280684.3_Silent_p.L378L	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	378						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.L378L(1)		NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						AGCTGGGGCTGCTCATCTTCT	0.597000										HNSCC(72;0.22)			8	71					0.000274275	0.000308954	0.004482	1	0
DST	667	broad.mit.edu	37	6	56328453	56328453	+	Silent	SNP	T	T	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr6:56328453T>A	ENST00000370754.5	-	100	22775	c.22776A>T	c.(22774-22776)tcA>tcT	p.S7592S	DST_ENST00000370769.4_Silent_p.S7414S|DST_ENST00000244364.6_Silent_p.S4976S|DST_ENST00000361203.3_Silent_p.S7303S|DST_ENST00000446842.2_Silent_p.S7088S|DST_ENST00000421834.2_Silent_p.S5299S|DST_ENST00000370788.2_Silent_p.S5217S|DST_ENST00000312431.6_3'UTR			Q03001	DYST_HUMAN	dystonin	7412					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.S7387S(1)|p.S4976S(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)			AAGCGCCTCGTGATGATGGCC	0.592000													32	82					0	0	0.012213	0	0
ALAS2	212	broad.mit.edu	37	X	55040070	55040070	+	Silent	SNP	T	T	G			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chrX:55040070T>G	ENST00000330807.5	-	10	1586	c.1449A>C	c.(1447-1449)gcA>gcC	p.A483A	ALAS2_ENST00000335854.4_Silent_p.A446A|ALAS2_ENST00000498636.1_Intron|ALAS2_ENST00000396198.3_Silent_p.A470A	NM_000032.4	NP_000023.2	P22557	HEM0_HUMAN	aminolevulinate, delta-, synthase 2	483					cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia	mitochondrial inner membrane|mitochondrial matrix	5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	p.A483A(1)|p.A470A(1)		central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	TGTTGAGTGCTGCATTGCCCA	0.547000													5	37					0	0	0.000602	0	0
MYH6	4624	broad.mit.edu	37	14	23855735	23855735	+	Missense_Mutation	SNP	T	T	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr14:23855735T>A	ENST00000405093.3	-	33	4818	c.4748A>T	c.(4747-4749)gAg>gTg	p.E1583V	MYH6_ENST00000356287.3_Missense_Mutation_p.E1583V	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1583					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	p.E1583V(1)		breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TTCCATCTCCTCGTCCTTCTC	0.632000													74	203					0	0	0.014410	0	0
LPIN2	9663	broad.mit.edu	37	18	2931392	2931392	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr18:2931392C>A	ENST00000261596.4	-	9	1556	c.1318G>T	c.(1318-1320)Ggc>Tgc	p.G440C		NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2	440					fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity	p.G440C(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		GACTGGGAGCCAGAGAGTGTG	0.572000													5	5					5.9392e-07	7.5033e-07	0.001168	1	0
TXLNB	167838	broad.mit.edu	37	6	139564044	139564044	+	Silent	SNP	G	G	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr6:139564044G>T	ENST00000358430.3	-	10	1906	c.1674C>A	c.(1672-1674)ccC>ccA	p.P558P	RP1-225E12.3_ENST00000585874.1_RNA	NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	558						cytoplasm		p.P558P(1)		breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		GAGGAGTTAGGGGAGGCAGGG	0.592000													27	49					1.66031e-10	2.33875e-10	0.003954	1	0
TRBV20-1	28567	broad.mit.edu	37	7	142334729	142334729	+	RNA	SNP	C	C	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr7:142334729C>T	ENST00000390394.3	+	0	229																											GTTTTGGTATCGTCAGTTCCC	0.502000											OREG0018395	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	111					0	0	0.009096	0	0
KIAA0319L	79932	broad.mit.edu	37	1	35940490	35940490	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr1:35940490C>A	ENST00000325722.3	-	5	1165	c.931G>T	c.(931-933)Gta>Tta	p.V311L		NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	311						cytoplasmic vesicle part|integral to membrane	protein binding	p.V311L(2)		breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CCAGCAGATACCACCAGTTCC	0.373000													13	64					5.50884e-06	6.59522e-06	0.013537	1	0
ROS1	6098	broad.mit.edu	37	6	117686772	117686772	+	Missense_Mutation	SNP	T	T	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr6:117686772T>A	ENST00000368508.3	-	19	3143	c.2945A>T	c.(2944-2946)tAc>tTc	p.Y982F	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.Y977F	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	982	Fibronectin type-III 4.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.Y982F(2)	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TTCTACACTGTAGAAAACTAC	0.428000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								13	39					0	0	0.001855	0	0
DLGAP3	58512	broad.mit.edu	37	1	35365842	35365842	+	Silent	SNP	G	G	T	rs149715442		TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr1:35365842G>T	ENST00000373347.1	-	4	1408	c.1140C>A	c.(1138-1140)acC>acA	p.T380T	DLGAP3_ENST00000235180.4_Silent_p.T380T			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	380					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane		p.T380T(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				CCTTGCCACCGGTGGGGTAAC	0.612000													14	87					4.14922e-12	6.04323e-12	0.004007	1	0
KRTAP19-2	337969	broad.mit.edu	37	21	31859528	31859528	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr21:31859528C>A	ENST00000334055.3	-	1	227	c.140G>T	c.(139-141)aGa>aTa	p.R47I		NM_181608.1	NP_853639.1	Q3LHN2	KR192_HUMAN	keratin associated protein 19-2	47						intermediate filament		p.R47I(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						GCCAGTGAATCTATATCTTCT	0.458000													40	100					4.07013e-28	7.40613e-28	0.008740	1	0
ZNF804A	91752	broad.mit.edu	37	2	185802769	185802769	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr2:185802769C>A	ENST00000302277.6	+	4	3240	c.2646C>A	c.(2644-2646)caC>caA	p.H882Q		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	882						intracellular	zinc ion binding	p.H882Q(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						TGTCTTTCCACCCTAACAATC	0.373000													28	58					3.1745e-13	4.79671e-13	0.008361	1	0
NTF3	4908	broad.mit.edu	37	12	5603344	5603344	+	Translation_Start_Site	SNP	T	T	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr12:5603344T>A	ENST00000331010.6	+	0	47				NTF3_ENST00000535299.1_Intron|NTF3_ENST00000423158.3_Intron	NM_002527.4	NP_002518.1	P20783	NTF3_HUMAN	neurotrophin 3						signal transduction	extracellular region	growth factor activity|neurotrophin receptor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						TCTTAACACCTGTGTTTCCTT	0.502000													17	40					0	0	0.006122	0	0
COL17A1	1308	broad.mit.edu	37	10	105794523	105794523	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr10:105794523C>A	ENST00000353479.5	-	51	3912	c.3622G>T	c.(3622-3624)Gcc>Tcc	p.A1208S	COL17A1_ENST00000369733.3_Missense_Mutation_p.A1126S	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	1208	Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding	p.A1208F(1)		NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GACAAGCCGGCAGCTGGGCAG	0.647000													9	37					1.58986e-06	1.95807e-06	0.008291	1	0
ZNFX1	57169	broad.mit.edu	37	20	47886771	47886771	+	Silent	SNP	C	C	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr20:47886771C>T	ENST00000396105.1	-	3	1824	c.1578G>A	c.(1576-1578)caG>caA	p.Q526Q	ZNFX1_ENST00000371752.1_Silent_p.Q526Q|ZNFX1_ENST00000371754.4_Silent_p.Q526Q	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	526							metal ion binding	p.Q526Q(2)|p.Q330Q(1)		cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CATCTTCCTCCTGGACCTCCT	0.527000													12	107					0	0	0.013537	0	0
FREM2	341640	broad.mit.edu	37	13	39262601	39262601	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr13:39262601G>C	ENST00000280481.7	+	1	1336	c.1120G>C	c.(1120-1122)Gat>Cat	p.D374H		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	374					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.D374H(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GGTGAGCACCGATGATCGCAG	0.577000													29	81					0	0	0.009535	0	0
LOC494141	494141	broad.mit.edu	37	11	18231373	18231373	+	Silent	SNP	C	C	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr11:18231373C>T	ENST00000527059.1	+	1	619	c.159C>T	c.(157-159)gtC>gtT	p.V53V	RP11-113D6.10_ENST00000534640.1_Silent_p.V53V|RP11-113D6.10_ENST00000340135.3_Silent_p.V53V														p.V53V(1)									TCAACAACGTCGCAATCACAT	0.423000													4	76					0	0	0.009096	0	0
FRG1B	284802	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr20:29628243T>C	ENST00000278882.3	+	6	625	c.245T>C	c.(244-246)tTg>tCg	p.L82S	FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S|FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S														p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363000													3	69					0	0	0.001168	0	0
TINAG	27283	broad.mit.edu	37	6	54219385	54219385	+	Nonsense_Mutation	SNP	G	G	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr6:54219385G>T	ENST00000259782.4	+	9	1297	c.1201G>T	c.(1201-1203)Gaa>Taa	p.E401*		NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	401					cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity	p.E401*(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			CACAAATAAAGAATCAGAAAA	0.323000													15	57					1.3612e-06	1.6825e-06	0.003163	1	0
PDE4DIP	9659	broad.mit.edu	37	1	144882775	144882775	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr1:144882775C>A	ENST00000369359.4	-	27	3693	c.3655G>T	c.(3655-3657)Gtg>Ttg	p.V1219L	PDE4DIP_ENST00000369354.3_Missense_Mutation_p.V1082L|PDE4DIP_ENST00000313382.9_Splice_Site|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.V1219L|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.V1082L|PDE4DIP_ENST00000524974.1_5'UTR			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1082					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	p.V1082L(2)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TCAACCATCACCTCGCCCTTC	0.502000			T	PDGFRB	MPD								75	534					1.14856e-27	2.08443e-27	0.014410	1	0
SPATA31D5P	347127	broad.mit.edu	37	9	84534412	84534412	+	RNA	SNP	C	C	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr9:84534412C>A	ENST00000527857.1	+	0	4434					NR_026851.1																						CAGGTCAGAGCAGAGCCTTTC	0.517000													12	35					0.00136819	0.0015114	0.013537	1	0
FAM149A	25854	broad.mit.edu	37	4	187077278	187077278	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr4:187077278G>A	ENST00000356371.5	+	7	1381	c.1381G>A	c.(1381-1383)Gtc>Atc	p.V461I	FAM149A_ENST00000227065.4_Missense_Mutation_p.V170I|FAM149A_ENST00000514829.1_3'UTR|FAM149A_ENST00000389354.5_Missense_Mutation_p.V170I|FAM149A_ENST00000503432.1_Missense_Mutation_p.V170I|FAM149A_ENST00000514153.1_Missense_Mutation_p.V170I|FAM149A_ENST00000502970.1_Missense_Mutation_p.V170I			A5PLN7	F149A_HUMAN	family with sequence similarity 149, member A	461								p.V170I(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2)	25		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)		GTTTGATCACGTCTGGACAAA	0.463000													17	62					0	0	0.004007	0	0
UGT2B4	7363	broad.mit.edu	37	4	70352326	70352326	+	Splice_Site	SNP	C	C	G			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr4:70352326C>G	ENST00000305107.6	-	4	1137		c.e4+1		UGT2B4_ENST00000381096.3_Splice_Site|UGT2B4_ENST00000512583.1_Splice_Site|UGT2B4_ENST00000506580.1_Splice_Site	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4						estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.?(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						CAGAGACTTACCAAGAAGATC	0.338000													13	96					0	0	0.013537	0	0
SYNE1	23345	broad.mit.edu	37	6	152623136	152623136	+	Silent	SNP	C	C	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr6:152623136C>T	ENST00000367255.5	-	92	18010	c.17409G>A	c.(17407-17409)aaG>aaA	p.K5803K	SYNE1_ENST00000423061.1_Silent_p.K5732K|SYNE1_ENST00000356820.4_Silent_p.K327K|SYNE1_ENST00000341594.5_Silent_p.K5415K|SYNE1_ENST00000265368.4_Silent_p.K5803K|SYNE1_ENST00000448038.1_Silent_p.K5732K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5803					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	p.K5803K(2)|p.K5732K(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCGTCAGCATCTTGCACTTGG	0.587000										HNSCC(10;0.0054)			44	84					0	0	0.014410	0	0
ANKRD45	339416	broad.mit.edu	37	1	173616126	173616126	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr1:173616126C>A	ENST00000333279.2	-	3	415	c.355G>T	c.(355-357)Gcc>Tcc	p.A119S		NM_198493.2	NP_940895.1	Q5TZF3	ANR45_HUMAN	ankyrin repeat domain 45	135								p.A119S(1)		NS(2)|endometrium(2)|large_intestine(4)|lung(3)|skin(1)	12						CGACCCCAGGCTGCAGCACAA	0.423000													27	34					0.000147802	0.000169552	0.006320	1	0
BRDT	676	broad.mit.edu	37	1	92445140	92445140	+	Silent	SNP	G	G	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr1:92445140G>A	ENST00000370389.2	+	8	1818	c.894G>A	c.(892-894)acG>acA	p.T298T	BRDT_ENST00000484781.1_3'UTR|BRDT_ENST00000402388.1_Silent_p.T371T|BRDT_ENST00000399546.2_Silent_p.T371T|BRDT_ENST00000362005.3_Silent_p.T371T|BRDT_ENST00000394530.3_Silent_p.T325T	NM_001242810.1	NP_001229739.1	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	371	Bromo 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity	p.T371T(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		TTTTCGAAACGCATTTTTCAA	0.323000													14	37					0	0	0.002450	0	0
RHPN2	85415	broad.mit.edu	37	19	33490547	33490547	+	Silent	SNP	T	T	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr19:33490547T>A	ENST00000254260.3	-	10	1205	c.1170A>T	c.(1168-1170)ccA>ccT	p.P390P	RHPN2_ENST00000400226.4_Silent_p.P239P	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	390	BRO1.				signal transduction	perinuclear region of cytoplasm	protein binding	p.P390P(1)		NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					TCAGCCCCTCTGGCATGTGGT	0.602000													3	18					0	0	0.004672	0	0
NEK4	6787	broad.mit.edu	37	3	52802578	52802578	+	Nonsense_Mutation	SNP	C	C	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr3:52802578C>A	ENST00000233027.5	-	2	338	c.136G>T	c.(136-138)Gag>Tag	p.E46*	NEK4_ENST00000383721.4_Nonsense_Mutation_p.E46*|NEK4_ENST00000535191.1_Intron	NM_001193533.1|NM_003157.4	NP_001180462.1|NP_003148.2	P51957	NEK4_HUMAN	NIMA-related kinase 4	46	Protein kinase.				cell division|mitosis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity	p.E46*(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10)	26				BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)		GCTCGCCGCTCTCGGCTAGAG	0.453000													77	75					8.70839e-23	1.51623e-22	0.014410	1	0
TRHR	7201	broad.mit.edu	37	8	110131489	110131489	+	Silent	SNP	C	C	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr8:110131489C>T	ENST00000518632.1	+	3	1353	c.1002C>T	c.(1000-1002)ctC>ctT	p.L334L	TRHR_ENST00000311762.2_Silent_p.L334L			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	334						integral to plasma membrane	thyrotropin-releasing hormone receptor activity	p.L334L(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			TCAGAAAGCTCTGCAACTGCA	0.453000													68	153					0	0	0.014410	0	0
OR51G2	81282	broad.mit.edu	37	11	4936493	4936493	+	Missense_Mutation	SNP	G	G	T	rs148695983		TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr11:4936493G>T	ENST00000322013.3	-	1	429	c.401C>A	c.(400-402)cCc>cAc	p.P134H	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005238.1	NP_001005238.1	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G, member 2	134					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P134H(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATAGTGCAAGGGGTGGCAGAT	0.488000													12	10					2.27111e-07	2.91757e-07	0.013537	1	0
MEIS3	56917	broad.mit.edu	37	19	47912735	47912735	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr19:47912735C>T	ENST00000331559.5	-	7	1057	c.616G>A	c.(616-618)Ggg>Agg	p.G206R	MEIS3_ENST00000561293.1_Missense_Mutation_p.G223R|MEIS3_ENST00000561096.1_Missense_Mutation_p.G311R|MEIS3_ENST00000559524.1_Missense_Mutation_p.G223R|MEIS3_ENST00000558555.1_Missense_Mutation_p.G223R|MEIS3_ENST00000441740.2_Missense_Mutation_p.G206R|MEIS3_ENST00000560253.1_5'UTR	NM_020160.2	NP_064545.1	Q99687	MEIS3_HUMAN	Meis homeobox 3	223						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.G223R(1)		breast(1)|large_intestine(5)|lung(11)|prostate(1)|skin(2)	20		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223)		GCCAGGCCCCCACTGGATGGA	0.502000													23	37					0	0	0.003954	0	0
ADAMTSL4	54507	broad.mit.edu	37	1	150531542	150531542	+	Silent	SNP	G	G	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr1:150531542G>A	ENST00000271643.4	+	16	2900	c.2664G>A	c.(2662-2664)ggG>ggA	p.G888G	ADAMTSL4_ENST00000369038.2_Silent_p.G888G|ADAMTSL4_ENST00000369039.5_Silent_p.G911G	NM_019032.4	NP_061905.2	Q6UY14	ATL4_HUMAN	ADAMTS-like 4	888	TSP type-1 4.				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding	p.G888G(1)		breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CAGGAACTGGGCAGAGCTGTC	0.692000													6	52					0	0	0.001984	0	0
TRAV8-2	28684	broad.mit.edu	37	14	22314934	22314934	+	RNA	SNP	C	C	G			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr14:22314934C>G	ENST00000390434.3	+	0	216																											AGCGTTGCCTCTGCTCAGCCA	0.557000											OREG0022570	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	74					0	0	0.001168	0	0
CSMD3	114788	broad.mit.edu	37	8	113348921	113348921	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr8:113348921C>G	ENST00000297405.5	-	44	7223	c.6979G>C	c.(6979-6981)Gtc>Ctc	p.V2327L	CSMD3_ENST00000352409.3_Missense_Mutation_p.V2257L|CSMD3_ENST00000455883.2_Missense_Mutation_p.V2223L|CSMD3_ENST00000343508.3_Missense_Mutation_p.V2287L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2327	CUB 13.					integral to membrane|plasma membrane		p.V2327L(1)|p.V2287L(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GTTTGAAGGACAGTAAAATTG	0.338000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			48	132					0	0	0.014410	0	0
DUSP22	56940	broad.mit.edu	37	6	348120	348120	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr6:348120G>T	ENST00000419235.2	+	6	359	c.281G>T	c.(280-282)aGg>aTg	p.R94M	DUSP22_ENST00000605315.1_5'UTR|DUSP22_ENST00000604971.1_5'UTR|DUSP22_ENST00000603453.1_5'UTR|DUSP22_ENST00000344450.5_Missense_Mutation_p.R94M|DUSP22_ENST00000605035.1_5'UTR|DUSP22_ENST00000605863.1_5'UTR			Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	94	Tyrosine-protein phosphatase.				apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R94M(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		GGGGTCTCCAGGAGCGTGACA	0.617000													13	157					9.05144e-12	1.30447e-11	0.001855	1	0
CD163L1	283316	broad.mit.edu	37	12	7531657	7531657	+	Missense_Mutation	SNP	T	T	C			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr12:7531657T>C	ENST00000313599.3	-	9	2345	c.2288A>G	c.(2287-2289)gAa>gGa	p.E763G	CD163L1_ENST00000396630.1_Missense_Mutation_p.E763G|CD163L1_ENST00000416109.2_Missense_Mutation_p.E773G|CD163L1_ENST00000544331.1_5'UTR			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	763	SRCR 7.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	p.E763*(1)		breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						GAGAGAGGCTTCCCCTCCAGT	0.448000													34	79					0	0	0.013726	0	0
SLITRK3	22865	broad.mit.edu	37	3	164906575	164906575	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr3:164906575G>T	ENST00000475390.1	-	2	2487	c.2044C>A	c.(2044-2046)Cgt>Agt	p.R682S	SLITRK3_ENST00000241274.3_Missense_Mutation_p.R682S			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	682						integral to membrane		p.R682S(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						TTCTTTCGACGCCTTCGGAGC	0.542000										HNSCC(40;0.11)			24	22					1.17739e-12	1.75585e-12	0.005443	1	0
CHRNA4	1137	broad.mit.edu	37	20	61981902	61981902	+	Silent	SNP	G	G	C			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr20:61981902G>C	ENST00000370263.4	-	5	1082	c.861C>G	c.(859-861)gtC>gtG	p.V287V	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	287					B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	p.V287V(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	GCAGCAGGAAGACGGTGAGCG	0.592000													15	51					0	0	0.003163	0	0
WISP1	8840	broad.mit.edu	37	8	134225219	134225219	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr8:134225219G>A	ENST00000250160.6	+	2	288	c.182G>A	c.(181-183)cGc>cAc	p.R61H	WISP1_ENST00000519433.1_Intron|WISP1_ENST00000517423.1_Missense_Mutation_p.R61H|WISP1_ENST00000377863.2_Intron|WISP1_ENST00000220856.6_Missense_Mutation_p.R61H	NM_003882.3	NP_003873.1	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	61	IGFBP N-terminal.				cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway	extracellular region|soluble fraction	insulin-like growth factor binding	p.R61H(3)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			TCCCCACCCCGCTGCCCGCTG	0.627000													13	28					0	0	0.003163	0	0
OR6C1	390321	broad.mit.edu	37	12	55715043	55715043	+	Silent	SNP	C	C	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr12:55715043C>A	ENST00000379668.2	+	1	698	c.660C>A	c.(658-660)atC>atA	p.I220I		NM_001005182.1	NP_001005182.1	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C, member 1	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I220I(1)		endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						TATACATTATCAGAACAATTT	0.388000													27	36					2.79863e-10	3.91809e-10	0.004656	1	0
CDH12	1010	broad.mit.edu	37	5	21783506	21783506	+	Missense_Mutation	SNP	T	T	G			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr5:21783506T>G	ENST00000382254.1	-	11	2440	c.1354A>C	c.(1354-1356)Act>Cct	p.T452P	CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000504376.2_Missense_Mutation_p.T452P|CDH12_ENST00000522262.1_Missense_Mutation_p.T412P	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	452	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.T452P(1)		NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TACTGCGCAGTGCTTTCTCTG	0.378000										HNSCC(59;0.17)			22	130					0	0	0.002780	0	0
KRBA1	84626	broad.mit.edu	37	7	149421940	149421940	+	Splice_Site	SNP	G	G	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr7:149421940G>A	ENST00000255992.10	+	9	1525	c.1126_splice	c.e9+1	p.A376_splice	KRBA1_ENST00000485033.2_Splice_Site_p.A376_splice|KRBA1_ENST00000479560.1_3'UTR|KRBA1_ENST00000319551.8_Splice_Site_p.A376_splice	NM_032534.2	NP_115923.2	A5PL33	KRBA1_HUMAN	KRAB-A domain containing 1	376								p.A376T(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TGAGGCTCAAGGTGAGGCCTG	0.642000													8	7					0	0	0.003080	0	0
KIAA1109	84162	broad.mit.edu	37	4	123184651	123184651	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr4:123184651C>T	ENST00000264501.4	+	44	7410	c.7037C>T	c.(7036-7038)tCa>tTa	p.S2346L	KIAA1109_ENST00000388738.3_Missense_Mutation_p.S2346L|KIAA1109_ENST00000455637.1_Missense_Mutation_p.S2346L			Q2LD37	K1109_HUMAN	KIAA1109	2346					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				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						TCTGAGCCATCATCTGTGAGT	0.353000													13	40					0	0	0.002450	0	0
CPXCR1	53336	broad.mit.edu	37	X	88009014	88009014	+	Nonsense_Mutation	SNP	C	C	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chrX:88009014C>A	ENST00000276127.4	+	3	858	c.599C>A	c.(598-600)tCg>tAg	p.S200*	CPXCR1_ENST00000373111.1_Nonsense_Mutation_p.S200*	NM_033048.5	NP_149037.4	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	200						intracellular	zinc ion binding	p.S200*(1)		NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						AGAAGGCCTTCGAGGGTGCAC	0.418000													16	26					6.31663e-08	8.25373e-08	0.003163	1	0
ZNF235	9310	broad.mit.edu	37	19	44792248	44792248	+	Missense_Mutation	SNP	T	T	C			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr19:44792248T>C	ENST00000291182.4	-	5	1442	c.1340A>G	c.(1339-1341)cAt>cGt	p.H447R	ZNF235_ENST00000589799.1_Intron|ZNF235_ENST00000589248.1_Intron	NM_004234.4	NP_004225.3	Q14590	ZN235_HUMAN	zinc finger protein 235	447					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H447R(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29		Prostate(69;0.0352)|all_neural(266;0.116)				CTGATGGGTATGAAGATTTGA	0.398000													37	47					0	0	0.005524	0	0
AGL	178	broad.mit.edu	37	1	100382210	100382210	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr1:100382210G>T	ENST00000294724.4	+	33	4882	c.4404G>T	c.(4402-4404)ttG>ttT	p.L1468F	AGL_ENST00000361522.4_Missense_Mutation_p.L1451F|AGL_ENST00000361302.3_Missense_Mutation_p.L1452F|AGL_ENST00000370165.3_Missense_Mutation_p.L1468F|AGL_ENST00000361915.3_Missense_Mutation_p.L1468F|AGL_ENST00000370161.2_Missense_Mutation_p.L1452F|AGL_ENST00000370163.3_Missense_Mutation_p.L1468F	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	1468					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding	p.L1468F(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		TTTCCAGATTGATGGGCCCGG	0.348000													12	45					0.000978159	0.00109108	0.010729	1	0
FAM47B	170062	broad.mit.edu	37	X	34961736	34961736	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chrX:34961736C>A	ENST00000329357.5	+	1	824	c.788C>A	c.(787-789)cCt>cAt	p.P263H		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	263	Pro-rich.							p.P263H(1)		breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						TGCCCAGAGCCTCCCAAGACT	0.622000													37	61					1.07121e-22	1.86038e-22	0.006999	1	0
IGKV1D-17	28900	broad.mit.edu	37	2	90121955	90121955	+	RNA	SNP	T	T	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr2:90121955T>A	ENST00000483379.1	+	0	354																											TTAGCCTGGTTTCAGCAGAAA	0.522000													47	315					0	0	0.011902	0	0
PTPRN	5798	broad.mit.edu	37	2	220164027	220164027	+	Splice_Site	SNP	C	C	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr2:220164027C>A	ENST00000295718.2	-	11	1843	c.1603_splice	c.e11+1	p.G535_splice	AC114803.3_ENST00000417355.1_RNA|PTPRN_ENST00000423636.2_Splice_Site_p.G445_splice|PTPRN_ENST00000409251.3_Splice_Site_p.G506_splice	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	535					response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	p.G535W(1)		breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		AGATATTTACCTGCTTGTTGG	0.547000											OREG0015221	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	94					2.23348e-06	2.73114e-06	0.004007	1	0
CNTNAP4	85445	broad.mit.edu	37	16	76513434	76513434	+	Splice_Site	SNP	C	C	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr16:76513434C>A	ENST00000307431.8	+	13	2263	c.1879_splice	c.e13+1	p.T626_splice	CNTNAP4_ENST00000478060.1_Splice_Site_p.T554_splice|CNTNAP4_ENST00000377504.4_Splice_Site_p.T578_splice|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000476707.1_Splice_Site_p.T630_splice	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	627	Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.T602T(1)|p.T554T(1)|p.T626T(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						GCAATATGACCGGTGAGTTAA	0.338000													22	105					7.45023e-12	1.07824e-11	0.010504	1	0
TP53	7157	broad.mit.edu	37	17	7576855	7576855	+	Nonsense_Mutation	SNP	G	G	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr17:7576855G>A	ENST00000420246.2	-	9	1123	c.991C>T	c.(991-993)Cag>Tag	p.Q331*	TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q331*|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q331*|TP53_ENST00000269305.4_Nonsense_Mutation_p.Q331*|TP53_ENST00000359597.4_Nonsense_Mutation_p.Q331*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	331	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		Q -> H (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Q331*(23)|p.0?(8)|p.Q331fs*6(2)|p.?(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)		CTTAGTACCTGAAGGGTGAAA	0.448000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			20	35					0	0	0.012319	0	0
IRS1	3667	broad.mit.edu	37	2	227662710	227662710	+	Missense_Mutation	SNP	T	T	G			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr2:227662710T>G	ENST00000305123.4	-	1	1765	c.745A>C	c.(745-747)Atg>Ctg	p.M249L		NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	249	IRS-type PTB.				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.M249L(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)		GTCTCGTGCATGTTCTGGGCC	0.607000											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	70					0	0	0.004990	0	0
NBEAP1	606	broad.mit.edu	37	15	20874950	20874950	+	RNA	SNP	T	T	C			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr15:20874950T>C	ENST00000556948.1	-	0	298																											CAAATATGTATATAGGGAAAG	0.279000													10	45					0	0	0.006214	0	0
TRBV5-5	28610	broad.mit.edu	37	7	142149188	142149188	+	RNA	SNP	G	G	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr7:142149188G>T	ENST00000390372.3	-	0	89																											GATCAGGTGTGTGGGACTTTG	0.557000													57	69					1.12612e-26	2.02229e-26	0.014410	1	0
SGIP1	84251	broad.mit.edu	37	1	67206396	67206396	+	Missense_Mutation	SNP	G	G	A	rs34469055		TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr1:67206396G>A	ENST00000371037.4	+	23	2367	c.2290G>A	c.(2290-2292)Gaa>Aaa	p.E764K	SGIP1_ENST00000371035.3_Missense_Mutation_p.E554K|SGIP1_ENST00000371039.1_Missense_Mutation_p.E567K|SGIP1_ENST00000435165.2_Missense_Mutation_p.E269K|SGIP1_ENST00000371036.3_Missense_Mutation_p.E566K|SGIP1_ENST00000237247.6_Missense_Mutation_p.E795K	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	764					positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding	p.E764K(1)|p.E567K(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						TCAGAAGTCAGAAAATGGAGG	0.308000													6	30					0	0	0.003080	0	0
GAB4	128954	broad.mit.edu	37	22	17447089	17447089	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr22:17447089C>A	ENST00000400588.1	-	6	1296	c.1189G>T	c.(1189-1191)Ggc>Tgc	p.G397C		NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	397								p.G397C(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				AGTGGGGAGCCAAGCAGGTCA	0.602000													12	53					3.07112e-06	3.72883e-06	0.010729	1	0
CIT	11113	broad.mit.edu	37	12	120208591	120208591	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr12:120208591G>C	ENST00000392521.2	-	18	2261	c.2206C>G	c.(2206-2208)Ctg>Gtg	p.L736V	CIT_ENST00000261833.7_Intron|CIT_ENST00000537607.1_5'UTR	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	694					intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity	p.L736V(1)		breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CTGCTCACCAGAATTTTATCA	0.433000													18	99					0	0	0.007413	0	0
ELSPBP1	64100	broad.mit.edu	37	19	48519179	48519179	+	Missense_Mutation	SNP	T	T	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr19:48519179T>A	ENST00000339841.2	+	4	416	c.238T>A	c.(238-240)Tat>Aat	p.Y80N	ELSPBP1_ENST00000597519.1_Intron	NM_022142.4	NP_071425.3	Q96BH3	ESPB1_HUMAN	epididymal sperm binding protein 1	80	Fibronectin type-II 2.				single fertilization	extracellular region		p.Y80N(1)		NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(6)	10		all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606)		CCCTTTCATCTATCGAGGAAA	0.468000													26	29					0	0	0.004656	0	0
PSME4	23198	broad.mit.edu	37	2	54114547	54114547	+	Silent	SNP	T	T	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr2:54114547T>A	ENST00000404125.1	-	40	4633	c.4578A>T	c.(4576-4578)atA>atT	p.I1526I	PSME4_ENST00000421748.2_Silent_p.I670I	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1526					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding	p.I1526I(1)|p.I1412I(1)		breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			CATGAGGCGATATGGTTGGTG	0.378000													9	35					0	0	0.004482	0	0
TUBB8	347688	broad.mit.edu	37	10	93890	93890	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr10:93890C>A	ENST00000447903.2	-	4	541	c.226G>T	c.(226-228)Ggt>Tgt	p.G76C	TUBB8_ENST00000332708.5_3'UTR|TUBB8_ENST00000413237.3_5'UTR|TUBB8_ENST00000309812.4_Missense_Mutation_p.G148C			Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII	148					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	p.G148C(1)		NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		AGAAGGGTACCCATCCCAGAC	0.587000													27	153					2.12542e-12	3.14232e-12	0.006320	1	0
SDPR	8436	broad.mit.edu	37	2	192701129	192701129	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr2:192701129C>G	ENST00000304141.4	-	2	1127	c.798G>C	c.(796-798)gaG>gaC	p.E266D		NM_004657.5	NP_004648.1	O95810	SDPR_HUMAN	serum deprivation response	266						caveola|cytosol	phosphatidylserine binding|protein binding	p.E266D(1)		NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	TCTCTCTCCTCTCTACAGATA	0.453000													111	207					0	0	0.014410	0	0
RAD17	5884	broad.mit.edu	37	5	68670537	68670537	+	Translation_Start_Site	SNP	A	A	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr5:68670537A>T	ENST00000358030.2	+	0	478				RAD17_ENST00000380774.3_Splice_Site_p.Q128_splice|RAD17_ENST00000361732.2_Splice_Site_p.Q117_splice|RAD17_ENST00000354868.5_Splice_Site_p.Q117_splice|RAD17_ENST00000354312.3_Splice_Site_p.Q117_splice|RAD17_ENST00000509734.1_Splice_Site_p.Q128_splice|RAD17_ENST00000305138.4_Splice_Site_p.Q117_splice|RAD17_ENST00000282891.6_Splice_Site_p.Q31_splice|RAD17_ENST00000521422.1_De_novo_Start_OutOfFrame|RAD17_ENST00000504177.1_Intron|RAD17_ENST00000345306.6_Splice_Site_p.Q117_splice	NM_133340.1	NP_579918.1	O75943	RAD17_HUMAN	RAD17 homolog (S. pombe)						cell cycle|DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation	nucleoplasm	ATP binding|nucleoside-triphosphatase activity|protein binding	p.Q117L(1)					Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)		CAACCAAAACAGGTAACTAAG	0.279000								Other conserved DNA damage response genes					20	25					0	0	0.008871	0	0
SLC17A4	10050	broad.mit.edu	37	6	25777157	25777157	+	Missense_Mutation	SNP	C	C	G	rs142556117		TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr6:25777157C>G	ENST00000377905.4	+	10	1357	c.1238C>G	c.(1237-1239)gCc>gGc	p.A413G	SLC17A4_ENST00000439485.2_Missense_Mutation_p.A183G|SLC17A4_ENST00000397076.2_Missense_Mutation_p.A211G	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN	solute carrier family 17, member 4	413					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity	p.A413G(1)		breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GAATCAGGAGCCCTTGTTAAC	0.502000													36	105					0	0	0.004289	0	0
SLC26A7	115111	broad.mit.edu	37	8	92406044	92406044	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr8:92406044G>T	ENST00000276609.3	+	17	2035	c.1796G>T	c.(1795-1797)gGc>gTc	p.G599V	SLC26A7_ENST00000520249.1_3'UTR|SLC26A7_ENST00000523719.1_Missense_Mutation_p.G599V|SLC26A7_ENST00000309536.2_Missense_Mutation_p.G599V	NM_052832.2	NP_439897.1	Q8TE54	S26A7_HUMAN	solute carrier family 26 (anion exchanger), member 7	599	STAS.					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity	p.G599V(2)		breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			GACTGTAAAGGCAGGAGTGTG	0.383000													38	94					2.66277e-13	4.03236e-13	0.006999	1	0
CSMD3	114788	broad.mit.edu	37	8	113364763	113364763	+	Splice_Site	SNP	G	G	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr8:113364763G>T	ENST00000297405.5	-	39	6381	c.6136_splice	c.e39-1	p.A2046_splice	CSMD3_ENST00000352409.3_Splice_Site_p.A1976_splice|CSMD3_ENST00000455883.2_Splice_Site_p.A1942_splice|CSMD3_ENST00000343508.3_Splice_Site_p.A2006_splice	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2046	CUB 11.					integral to membrane|plasma membrane		p.A2006E(1)|p.A2046E(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CAAACCAATTGCTAAGAATAT	0.318000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			48	79					8.30282e-39	1.54356e-38	0.014410	1	0
SIM1	6492	broad.mit.edu	37	6	100838294	100838294	+	Missense_Mutation	SNP	T	T	G			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr6:100838294T>G	ENST00000369208.3	-	12	3026	c.2244A>C	c.(2242-2244)caA>caC	p.Q748H	SIM1_ENST00000262901.4_Missense_Mutation_p.Q748H			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	748	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.Q748H(1)		breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		CTGGGTCTGGTTGCATCCTCA	0.413000													41	80					0	0	0.010771	0	0
ALCAM	214	broad.mit.edu	37	3	105266233	105266233	+	Splice_Site	SNP	G	G	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr3:105266233G>T	ENST00000306107.5	+	11	1740		c.e11-1		ALCAM_ENST00000486979.2_Splice_Site|ALCAM_ENST00000472644.2_Splice_Site|ALCAM_ENST00000389927.4_Splice_Site	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule						cell adhesion|signal transduction	integral to membrane	receptor binding	p.?(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						TAATATTTCAGGCAAACCTCA	0.318000													13	13					9.31168e-06	1.10707e-05	0.001855	1	0
RGS9	8787	broad.mit.edu	37	17	63200369	63200369	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr17:63200369C>G	ENST00000449996.3	+	15	1216	c.1144C>G	c.(1144-1146)Cgc>Ggc	p.R382G	RGS9_ENST00000443584.3_Missense_Mutation_p.R382G|RGS9_ENST00000262406.9_Missense_Mutation_p.R385G	NM_001081955.2	NP_001075424.1	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	385	RGS.				intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity	p.R385G(1)|p.R385C(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						GCACCCCCACCGCTATGTGCT	0.587000													4	38					0	0	0.000602	0	0
PCNT	5116	broad.mit.edu	37	21	47783764	47783764	+	Nonsense_Mutation	SNP	G	G	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr21:47783764G>T	ENST00000359568.5	+	14	2631	c.2524G>T	c.(2524-2526)Gag>Tag	p.E842*	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	842					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	p.E842*(1)|p.E842K(1)|p.E842Q(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GTGTGGGCGGGAGCCGCCCAC	0.662000													15	142					4.75885e-15	7.6275e-15	0.004990	1	0
SEZ6	124925	broad.mit.edu	37	17	27306716	27306716	+	Silent	SNP	G	G	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr17:27306716G>A	ENST00000317338.12	-	3	1268	c.840C>T	c.(838-840)ggC>ggT	p.G280G	SEZ6_ENST00000442608.3_Silent_p.G280G|SEZ6_ENST00000360295.9_Silent_p.G280G|SEZ6_ENST00000335960.6_Silent_p.G280G|PIPOX_ENST00000583215.1_Intron			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	280						integral to membrane|plasma membrane		p.G280G(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			CCACGCCATAGCCAGGGTAGA	0.542000													4	21					0	0	0.009096	0	0
CLK1	1195	broad.mit.edu	37	2	201726036	201726036	+	Silent	SNP	A	A	G			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr2:201726036A>G	ENST00000434813.2	-	3	775	c.441T>C	c.(439-441)tcT>tcC	p.S147S	CLK1_ENST00000492793.1_5'UTR|CLK1_ENST00000321356.4_Silent_p.S105S	NM_001162407.1	NP_001155879.1	P49759	CLK1_HUMAN	CDC-like kinase 1	105					cell proliferation	nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity	p.S105S(2)|p.S147S(1)		NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						CACTTCTACCAGAAGACTTGC	0.408000													52	120					0	0	0.014410	0	0
KIF21A	55605	broad.mit.edu	37	12	39756909	39756909	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr12:39756909C>A	ENST00000395670.3	-	7	1429	c.1010G>T	c.(1009-1011)gGg>gTg	p.G337V	KIF21A_ENST00000544797.2_Missense_Mutation_p.G337V|KIF21A_ENST00000361418.5_Missense_Mutation_p.G337V|KIF21A_ENST00000361961.3_Missense_Mutation_p.G337V|KIF21A_ENST00000541463.2_Missense_Mutation_p.G337V			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	337					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.G337V(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				CCTATTACCCCCGAGGGAATC	0.383000													14	102					1.3612e-06	1.6825e-06	0.003163	1	0
ZIC4	84107	broad.mit.edu	37	3	147114033	147114033	+	Nonsense_Mutation	SNP	G	G	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr3:147114033G>T	ENST00000383075.3	-	3	806	c.294C>A	c.(292-294)taC>taA	p.Y98*	ZIC4_ENST00000473123.1_Nonsense_Mutation_p.Y98*|ZIC4_ENST00000484399.1_Nonsense_Mutation_p.Y98*|ZIC4_ENST00000425731.3_Nonsense_Mutation_p.Y136*|ZIC4_ENST00000491672.1_Intron|ZIC4_ENST00000525172.2_Nonsense_Mutation_p.Y148*	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	98						nucleus	DNA binding|zinc ion binding	p.Y98*(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						TCATGCCCCCGTAGCCATGCA	0.687000													20	17					3.51602e-12	5.14283e-12	0.008871	1	0
ABCB5	340273	broad.mit.edu	37	7	20685744	20685744	+	Missense_Mutation	SNP	A	A	G			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr7:20685744A>G	ENST00000404938.2	+	9	1616	c.964A>G	c.(964-966)Atc>Gtc	p.I322V		NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	506	ABC transmembrane type-1.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	p.I322V(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						TGGATATACCATCGGGACTGT	0.403000													12	47					0	0	0.013537	0	0
OXA1L	5018	broad.mit.edu	37	14	23237370	23237370	+	Silent	SNP	C	C	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr14:23237370C>T	ENST00000358043.5	+	3	699	c.381C>T	c.(379-381)gcC>gcT	p.A127A	OXA1L_ENST00000412791.1_Silent_p.A143A|OXA1L_ENST00000604262.1_Silent_p.A143A|OXA1L_ENST00000285848.5_Silent_p.A203A			Q15070	OXA1L_HUMAN	oxidase (cytochrome c) assembly 1-like	143					aerobic respiration|mitochondrial proton-transporting ATP synthase complex assembly|mitochondrial respiratory chain complex I assembly|negative regulation of ATPase activity|negative regulation of oxidoreductase activity|protein insertion into membrane|protein tetramerization	integral to mitochondrial membrane|mitochondrial respiratory chain|protein complex	protein homodimerization activity|ribosome binding	p.A203A(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|skin(2)	19	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.0096)		GGTGGGGGGCCATTGCTGCAT	0.488000													20	41					0	0	0.008871	0	0
PSG6	5675	broad.mit.edu	37	19	43420611	43420611	+	Silent	SNP	G	G	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr19:43420611G>A	ENST00000187910.2	-	2	158	c.93C>T	c.(91-93)ccC>ccT	p.P31P	PSG6_ENST00000601833.1_5'UTR|PSG6_ENST00000292125.2_Silent_p.P31P|PSG6_ENST00000402603.4_Silent_p.P31P	NM_001031850.3	NP_001027020.1			pregnancy specific beta-1-glycoprotein 6									p.P31P(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				GGGCAGTGGTGGGCAGGTTCC	0.468000													82	102					0	0	0.014410	0	0
HAS2	3037	broad.mit.edu	37	8	122626567	122626567	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr8:122626567C>A	ENST00000303924.4	-	4	1978	c.1441G>T	c.(1441-1443)Gta>Tta	p.V481L		NM_005328.2	NP_005319.1	Q92819	HAS2_HUMAN	hyaluronan synthase 2	481						integral to plasma membrane	hyaluronan synthase activity	p.V481L(1)	HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			CAAACTGATACTGGAATGAGT	0.398000													41	89					5.73237e-09	7.84911e-09	0.006230	1	0
GALNT8	26290	broad.mit.edu	37	12	4829883	4829883	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr12:4829883G>T	ENST00000252318.2	+	1	377	c.40G>T	c.(40-42)Ggg>Tgg	p.G14W	RP11-234B24.6_ENST00000544741.2_Intron	NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)	14						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.G14W(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						CCTCTTCATTGGGCTGACTCT	0.512000													23	83					3.5997e-14	5.62504e-14	0.014323	1	0
SYTL2	54843	broad.mit.edu	37	11	85445402	85445402	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr11:85445402G>A	ENST00000316356.4	-	7	1534	c.970C>T	c.(970-972)Cca>Tca	p.P324S	SYTL2_ENST00000528231.1_Missense_Mutation_p.P323S|SYTL2_ENST00000527523.1_Missense_Mutation_p.P275S|SYTL2_ENST00000524452.1_Missense_Mutation_p.P323S|SYTL2_ENST00000389960.4_Missense_Mutation_p.P323S			Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	323					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding	p.P324S(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		AGGGAGTTTGGGGAAGAGTTG	0.448000													50	102					0	0	0.014410	0	0
HIST1H4B	8366	broad.mit.edu	37	6	26027319	26027319	+	Missense_Mutation	SNP	C	C	G	rs147907725		TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr6:26027319C>G	ENST00000377364.3	-	1	161	c.162G>C	c.(160-162)gaG>gaC	p.E54D		NM_003544.2	NP_003535.1	P62805	H4_HUMAN	histone cluster 1, H4b	54					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	p.E54D(1)		large_intestine(4)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	13						CGCCACGAGTCTCCTCATAAA	0.562000											OREG0017238	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	78					0	0	0.004672	0	0
AP2B1	163	broad.mit.edu	37	17	34044368	34044368	+	Splice_Site	SNP	G	G	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr17:34044368G>T	ENST00000262325.7	+	20	3292	c.2739_splice	c.e20+1	p.T913_splice	AP2B1_ENST00000592545.1_Splice_Site_p.T889_splice|AP2B1_ENST00000589344.1_Splice_Site_p.T927_splice|AP2B1_ENST00000538556.1_Splice_Site_p.T856_splice|AP2B1_ENST00000537622.2_Splice_Site_p.T927_splice|AP2B1_ENST00000312678.8_Splice_Site_p.T927_splice|AP2B1_ENST00000545922.2_3'UTR	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	913	Interaction with ARRB1.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity	p.T927T(1)		NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		CCAATTACACGGTAAGGCCTT	0.493000													14	90					1.5739e-10	2.23077e-10	0.004007	1	0
NLRP14	338323	broad.mit.edu	37	11	7083644	7083644	+	Missense_Mutation	SNP	T	T	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr11:7083644T>A	ENST00000299481.4	+	10	3231	c.2885T>A	c.(2884-2886)cTg>cAg	p.L962Q		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	962					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	p.L962Q(1)		breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		CTGAGGAGCCTGGACCTTGGG	0.423000													36	48					0	0	0.004289	0	0
REM1	28954	broad.mit.edu	37	20	30064325	30064325	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr20:30064325G>T	ENST00000201979.2	+	2	370	c.77G>T	c.(76-78)cGg>cTg	p.R26L	DEFB124_ENST00000481595.1_Intron	NM_014012.4	NP_054731.2	O75628	REM1_HUMAN	RAS (RAD and GEM)-like GTP-binding 1	26					small GTPase mediated signal transduction	membrane	calmodulin binding|GTP binding|GTPase activity	p.R26L(1)		kidney(3)|large_intestine(3)|lung(14)|pancreas(2)|upper_aerodigestive_tract(1)	23	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			CTGTCCCCACGGGGCCACCAG	0.647000													9	49					9.05144e-12	1.30447e-11	0.001855	1	0
MYCN	4613	broad.mit.edu	37	2	16082194	16082194	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr2:16082194G>T	ENST00000281043.3	+	2	305	c.8G>T	c.(7-9)aGc>aTc	p.S3I	MYCNOS_ENST00000448719.1_RNA	NM_005378.4	NP_005369.2	P04198	MYCN_HUMAN	v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog	3					regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.S3I(1)		NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	31	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(3;0.000332)			CCGATGCCGAGCTGCTCCACG	0.632000			A		neuroblastoma								5	25					3.59834e-05	4.16969e-05	0.001168	1	0
AHNAK	79026	broad.mit.edu	37	11	62298829	62298829	+	Silent	SNP	C	C	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr11:62298829C>A	ENST00000378024.4	-	5	3334	c.3060G>T	c.(3058-3060)gtG>gtT	p.V1020V	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1020					nervous system development	nucleus	protein binding	p.V1020V(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TGGACAGGTTCACATCAAATT	0.463000													61	62					1.4709e-25	2.6277e-25	0.014410	1	0
ANK1	286	broad.mit.edu	37	8	41519012	41519012	+	Missense_Mutation	SNP	C	C	A	rs139762174	byFrequency	TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr8:41519012C>A	ENST00000396942.1	-	42	5773	c.5690G>T	c.(5689-5691)cGg>cTg	p.R1897L	ANK1_ENST00000457297.1_Intron|ANK1_ENST00000396945.1_Intron|RP11-930P14.1_ENST00000585088.1_RNA|ANK1_ENST00000347528.4_Intron|ANK1_ENST00000314214.8_Missense_Mutation_p.R147L|ANK1_ENST00000352337.4_Missense_Mutation_p.R1850L|ANK1_ENST00000379758.2_Intron|RP11-930P14.1_ENST00000522388.1_RNA|ANK1_ENST00000265709.8_Intron|ANK1_ENST00000522231.1_Intron|RP11-930P14.1_ENST00000520418.1_RNA|ANK1_ENST00000522543.1_Intron|ANK1_ENST00000289734.7_Missense_Mutation_p.R1872L			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	0					axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	p.R147L(1)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CAGGCTGGCCCGCTTCACTAT	0.622000													21	100					1.22574e-08	1.65849e-08	0.014323	1	0
KIAA0100	9703	broad.mit.edu	37	17	26965369	26965369	+	Silent	SNP	G	G	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr17:26965369G>A	ENST00000528896.2	-	13	1487	c.1413C>T	c.(1411-1413)tgC>tgT	p.C471C	KIAA0100_ENST00000389003.3_Silent_p.C328C|KIAA0100_ENST00000544884.1_Silent_p.C328C	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	471						extracellular region		p.C471C(1)		breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					CCACACGCCAGCAGAGGTGGT	0.567000													14	29					0	0	0.001855	0	0
ALCAM	214	broad.mit.edu	37	3	105266234	105266234	+	Splice_Site	SNP	G	G	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr3:105266234G>T	ENST00000306107.5	+	11	1741	c.1240_splice	c.e11-1	p.G414_splice	ALCAM_ENST00000486979.2_Splice_Site_p.G363_splice|ALCAM_ENST00000472644.2_Splice_Site_p.G414_splice|ALCAM_ENST00000389927.4_Splice_Site_p.G136_splice	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	414					cell adhesion|signal transduction	integral to membrane	receptor binding	p.?(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						AATATTTCAGGCAAACCTCAA	0.323000													13	13					9.31168e-06	1.10707e-05	0.001855	1	0
RBM12B	389677	broad.mit.edu	37	8	94747803	94747803	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr8:94747803C>A	ENST00000399300.2	-	3	1049	c.836G>T	c.(835-837)cGt>cTt	p.R279L	RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_Missense_Mutation_p.R279L	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	279							nucleotide binding|RNA binding	p.R279L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			AAGAGGGGAACGAGAACGTGT	0.368000													36	67					2.42023e-17	4.00067e-17	0.003271	1	0
QSER1	79832	broad.mit.edu	37	11	32956353	32956353	+	Silent	SNP	A	A	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr11:32956353A>T	ENST00000399302.2	+	4	3497	c.3162A>T	c.(3160-3162)gcA>gcT	p.A1054A	QSER1_ENST00000527788.1_Silent_p.A815A	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	1054								p.A1054A(1)		breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					CTGGGGATGCAGTCAGTGTCA	0.438000													26	26					0	0	0.004656	0	0
LAMA1	284217	broad.mit.edu	37	18	6943237	6943237	+	Silent	SNP	T	T	C			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr18:6943237T>C	ENST00000389658.3	-	62	9102	c.9009A>G	c.(9007-9009)ccA>ccG	p.P3003P		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	3003	Laminin G-like 5.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	p.P3003P(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACTGGGTGTGTGGACTTTCAG	0.493000													36	50					0	0	0.004289	0	0
PREX2	80243	broad.mit.edu	37	8	69046421	69046421	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr8:69046421G>T	ENST00000288368.4	+	32	4171	c.3894G>T	c.(3892-3894)atG>atT	p.M1298I		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1298					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	p.M1298I(1)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						AAAATGAGATGGAAACTTGGG	0.488000													33	67					5.91797e-21	1.00488e-20	0.012213	1	0
KEL	3792	broad.mit.edu	37	7	142658913	142658913	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr7:142658913G>T	ENST00000355265.2	-	2	524	c.50C>A	c.(49-51)gCa>gAa	p.A17E	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	17					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	p.A17V(1)|p.A17E(1)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					CATTCCACCTGCCTGGCTGCG	0.547000													73	398					1.25089e-41	2.33817e-41	0.014410	1	0
RSPO1	284654	broad.mit.edu	37	1	38082184	38082184	+	Silent	SNP	G	G	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr1:38082184G>T	ENST00000356545.2	-	5	1045	c.258C>A	c.(256-258)gcC>gcA	p.A86A	RSPO1_ENST00000401069.1_Silent_p.A86A|RSPO1_ENST00000401071.2_Silent_p.A86A|RSPO1_ENST00000401070.1_Silent_p.A86A|RSPO1_ENST00000401068.1_Silent_p.A86A|RSPO1_ENST00000373059.1_Silent_p.A59A	NM_001038633.3	NP_001033722.1	Q2MKA7	RSPO1_HUMAN	R-spondin 1	86					positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization		heparin binding	p.A86A(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CGGGGTTGCGGGCGTCGAAGT	0.612000													21	32					3.51602e-12	5.14283e-12	0.008871	1	0
RADIL	55698	broad.mit.edu	37	7	4917441	4917441	+	Nonsense_Mutation	SNP	G	G	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr7:4917441G>T	ENST00000399583.3	-	2	517	c.330C>A	c.(328-330)taC>taA	p.Y110*	RADIL_ENST00000536091.1_Nonsense_Mutation_p.Y110*	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	110	Ras-associating.				cell adhesion|multicellular organismal development|signal transduction		protein binding	p.Y110*(1)		NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		CACACAGCACGTACTGGCCGG	0.682000													33	47					3.99451e-17	6.5713e-17	0.009535	1	0
PLXNA1	5361	broad.mit.edu	37	3	126707544	126707544	+	Silent	SNP	T	T	G			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr3:126707544T>G	ENST00000251772.4	+	1	108	c.39T>G	c.(37-39)ggT>ggG	p.G13G	PLXNA1_ENST00000393409.2_Silent_p.G36G			Q9UIW2	PLXA1_HUMAN	plexin A1	36					axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	p.G13G(4)		breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CAGGCGGGGGTTCACAGCCCC	0.682000													7	19					0	0	0.004007	0	0
OR51F2	119694	broad.mit.edu	37	11	4843386	4843386	+	Silent	SNP	C	C	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr11:4843386C>A	ENST00000322110.5	+	1	836	c.771C>A	c.(769-771)tcC>tcA	p.S257S	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F, member 2	257					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S257S(1)		breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCTGCACATCCCACATCAGTG	0.498000													20	30					8.34094e-07	1.04034e-06	0.008871	1	0
NLRP3	114548	broad.mit.edu	37	1	247588623	247588623	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr1:247588623C>A	ENST00000366497.2	+	4	2658	c.1878C>A	c.(1876-1878)agC>agA	p.S626R	NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000348069.2_Missense_Mutation_p.S626R|NLRP3_ENST00000366496.2_Missense_Mutation_p.S626R|NLRP3_ENST00000391827.2_Missense_Mutation_p.S626R|NLRP3_ENST00000336119.3_Missense_Mutation_p.S626R|NLRP3_ENST00000391828.3_Missense_Mutation_p.S626R	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	626					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.S626R(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)			TCCAGCCCAGCCAGCTGGAAT	0.463000													20	34					0.000175454	0.000199274	0.010504	1	0
ADAM2	2515	broad.mit.edu	37	8	39613420	39613420	+	Missense_Mutation	SNP	A	A	G			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr8:39613420A>G	ENST00000265708.4	-	16	1727	c.1624T>C	c.(1624-1626)Tgc>Cgc	p.C542R	ADAM2_ENST00000379853.2_Intron|ADAM2_ENST00000347580.4_Missense_Mutation_p.C523R|ADAM2_ENST00000521880.1_Intron	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	542	Cys-rich.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	p.C542R(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		AATTTTCCGCACTGCAGATTG	0.239000													14	215					0	0	0.002450	0	0
OR5L1	219437	broad.mit.edu	37	11	55579446	55579446	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr11:55579446C>A	ENST00000333973.2	+	1	593	c.504C>A	c.(502-504)ttC>ttA	p.F168L		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	168					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F168L(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				GGATCCCCTTCTATAGATCTA	0.458000													46	247					6.21074e-16	1.00961e-15	0.011902	1	0
CD99L2	83692	broad.mit.edu	37	X	149962192	149962192	+	Silent	SNP	A	A	G			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chrX:149962192A>G	ENST00000370377.3	-	7	585	c.468T>C	c.(466-468)ggT>ggC	p.G156G	CD99L2_ENST00000437787.2_Intron|CD99L2_ENST00000355149.3_Silent_p.G84G|CD99L2_ENST00000466436.1_Silent_p.G107G|CD99L2_ENST00000346693.4_5'UTR	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2	156					cell adhesion	cell junction|integral to membrane		p.G156G(1)		endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					TGTATTCTCCACCCCCTACTA	0.373000													3	51					0	0	0.009096	0	0
POM121L12	285877	broad.mit.edu	37	7	53103916	53103916	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr7:53103916G>T	ENST00000408890.4	+	1	568	c.552G>T	c.(550-552)caG>caT	p.Q184H		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	184								p.Q184H(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CGCTCAGCCAGTGCCCCAAGG	0.711000													28	31					1.13719e-10	1.62523e-10	0.008361	1	0
ESRRG	2104	broad.mit.edu	37	1	216737622	216737622	+	Silent	SNP	T	T	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr1:216737622T>A	ENST00000391890.3	-	7	1270	c.753A>T	c.(751-753)acA>acT	p.T251T	ESRRG_ENST00000366937.1_Silent_p.T279T|ESRRG_ENST00000463665.1_Silent_p.T205T|ESRRG_ENST00000493748.1_Silent_p.T244T|ESRRG_ENST00000361395.2_Silent_p.T244T|ESRRG_ENST00000493603.1_Silent_p.T244T|ESRRG_ENST00000487276.1_Silent_p.T244T|ESRRG_ENST00000366940.2_Silent_p.T244T|ESRRG_ENST00000359162.2_Silent_p.T244T|ESRRG_ENST00000408911.3_Silent_p.T267T|ESRRG_ENST00000361525.3_Silent_p.T244T|ESRRG_ENST00000360012.3_Silent_p.T244T|ESRRG_ENST00000366938.2_Silent_p.T244T	NM_001243515.1|NM_001243519.1	NP_001230444.1|NP_001230448.1	P62508	ERR3_HUMAN	estrogen-related receptor gamma	267					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.T267T(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)	AGTCACACAGTGTAGTGAGGG	0.458000													7	59					0	0	0.001984	0	0
GNAO1	2775	broad.mit.edu	37	16	56377844	56377844	+	Silent	SNP	G	G	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr16:56377844G>T	ENST00000262494.7	+	8	1307	c.1047G>T	c.(1045-1047)cgG>cgT	p.R349R	GNAO1_ENST00000262493.6_Intron	NM_138736.2	NP_620073.2	P09471	GNAO_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O	349					dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|muscle contraction	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity	p.R349R(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)	17		all_neural(199;0.159)				AAAACCTGCGGGGCTGTGGAC	0.622000													18	33					5.26018e-13	7.93073e-13	0.012319	1	0
GPR4	2828	broad.mit.edu	37	19	46094361	46094361	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr19:46094361G>T	ENST00000323040.4	-	2	1708	c.764C>A	c.(763-765)cCc>cAc	p.P255H	OPA3_ENST00000544371.1_Intron	NM_005282.2	NP_005273.1	P46093	GPR4_HUMAN	G protein-coupled receptor 4	255				P -> L (in Ref. 5; BAF83387).		integral to plasma membrane	G-protein coupled receptor activity	p.P255H(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		GCAGTCCCAGGGGCGGCCCAG	0.627000													14	32					1.5842e-08	2.11844e-08	0.001855	1	0
F9	2158	broad.mit.edu	37	X	138643882	138643882	+	Silent	SNP	C	C	G			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chrX:138643882C>G	ENST00000218099.2	+	8	1045	c.1038C>G	c.(1036-1038)ctC>ctG	p.L346L	F9_ENST00000394090.2_Silent_p.L308L	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	346	Peptidase S1.				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity	p.L346L(1)		breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	ACATCTTCCTCAAATTTGGAT	0.453000													65	154					0	0	0.014410	0	0
ZNF774	342132	broad.mit.edu	37	15	90903397	90903397	+	Nonsense_Mutation	SNP	G	G	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr15:90903397G>T	ENST00000354377.3	+	4	520	c.334G>T	c.(334-336)Gag>Tag	p.E112*	ZNF774_ENST00000558115.1_3'UTR|ZNF774_ENST00000379090.5_Intron	NM_001004309.2	NP_001004309.2	Q6NX45	ZN774_HUMAN	zinc finger protein 774	112					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E112*(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|stomach(1)	14	Melanoma(11;0.00551)|Lung NSC(78;0.0158)|all_lung(78;0.0331)		BRCA - Breast invasive adenocarcinoma(143;0.0224)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			AGGAAACTGGGAGCAAGGCCT	0.473000													16	25					2.23348e-06	2.73114e-06	0.004007	1	0
PLCG1	5335	broad.mit.edu	37	20	39792419	39792419	+	Missense_Mutation	SNP	C	C	G	rs150381500		TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr20:39792419C>G	ENST00000373272.2	+	10	1361	c.956C>G	c.(955-957)cCg>cGg	p.P319R	PLCG1_ENST00000373271.1_Missense_Mutation_p.P319R|PLCG1_ENST00000244007.3_Missense_Mutation_p.P319R	NM_002660.2	NP_002651.2	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	319					activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity	p.P319R(1)		breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				GCAGTATGCCCGGACACCATG	0.547000													18	85					0	0	0.006122	0	0
DMD	1756	broad.mit.edu	37	X	31462673	31462673	+	Silent	SNP	G	G	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chrX:31462673G>T	ENST00000357033.4	-	60	9215	c.9009C>A	c.(9007-9009)acC>acA	p.T3003T	DMD_ENST00000343523.2_Silent_p.T543T|DMD_ENST00000541735.1_Silent_p.T543T|DMD_ENST00000359836.1_Silent_p.T543T|DMD_ENST00000378707.3_Silent_p.T543T|DMD_ENST00000474231.1_Silent_p.T543T|DMD_ENST00000378677.2_Silent_p.T2999T	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	3003					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TGCCCAAAGTGGTAAGCTGGC	0.478000													6	63					2.7689e-08	3.67401e-08	0.001984	1	0
HTR2A	3356	broad.mit.edu	37	13	47409356	47409356	+	Silent	SNP	G	G	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr13:47409356G>T	ENST00000378688.4	-	3	1163	c.1032C>A	c.(1030-1032)atC>atA	p.I344I	HTR2A_ENST00000542664.1_Silent_p.I344I|HTR2A_ENST00000543956.1_Silent_p.I260I			P28223	5HT2A_HUMAN	5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	344					ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	integral to plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity	p.I344I(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	TGACGGCCATGATGTTTGTGA	0.493000													6	80					0.00116845	0.00129283	0.001168	1	0
TET2	54790	broad.mit.edu	37	4	106158576	106158576	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr4:106158576G>T	ENST00000305737.2	+	3	3881	c.3477G>T	c.(3475-3477)atG>atT	p.M1159I	TET2_ENST00000380013.4_Intron|TET2_ENST00000545826.1_Intron|TET2_ENST00000513237.1_Intron|TET2_ENST00000540549.1_Intron|TET2_ENST00000394764.1_Missense_Mutation_p.M1159I|TET2_ENST00000413648.2_Intron	NM_017628.4	NP_060098.3	Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	0					cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.M1159I(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		CTTCAGATATGGGATTTTCCT	0.358000			"""Mis N, F"""		MDS								5	42					1.23904e-05	1.45296e-05	0.000602	1	0
SYT8	90019	broad.mit.edu	37	11	1857722	1857722	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr11:1857722G>T	ENST00000341958.3	+	5	886	c.584G>T	c.(583-585)gGg>gTg	p.G195V	SYT8_ENST00000535046.1_3'UTR|SYT8_ENST00000381968.3_Missense_Mutation_p.G209V			Q8NBV8	SYT8_HUMAN	synaptotagmin VIII	209	C2 1.					acrosomal vesicle|integral to membrane|plasma membrane|synaptic vesicle	transporter activity	p.G209V(1)		breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CGCTTCTCGGGGCATGAGCCC	0.677000													9	9					7.93312e-07	9.91279e-07	0.002450	1	0
C2orf80	389073	broad.mit.edu	37	2	209045986	209045986	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr2:209045986C>G	ENST00000341287.4	-	5	445	c.250G>C	c.(250-252)Gaa>Caa	p.E84Q	C2orf80_ENST00000451346.1_Missense_Mutation_p.E65Q|C2orf80_ENST00000453017.1_Missense_Mutation_p.E84Q	NM_001099334.2	NP_001092804.1	Q0P641	CB080_HUMAN	chromosome 2 open reading frame 80	84								p.E84Q(1)		endometrium(2)|large_intestine(3)|lung(6)|skin(2)	13						GCTTCTCGTTCTCTACGATTT	0.348000													24	40					0	0	0.002780	0	0
ZNF641	121274	broad.mit.edu	37	12	48737288	48737288	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr12:48737288C>A	ENST00000544117.2	-	6	1493	c.785G>T	c.(784-786)aGa>aTa	p.R262I	ZNF641_ENST00000301042.3_Missense_Mutation_p.R262I|ZNF641_ENST00000448928.3_Missense_Mutation_p.R239I|ZNF641_ENST00000547026.1_Missense_Mutation_p.R248I			Q96N77	ZN641_HUMAN	zinc finger protein 641	262	Transactivation.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	p.R262I(1)		breast(1)|endometrium(2)|kidney(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	12						TGTGTGGGGTCTTAACAGGGA	0.542000													31	44					1.56442e-22	2.70325e-22	0.012213	1	0
AHNAK2	113146	broad.mit.edu	37	14	105420648	105420648	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr14:105420648C>A	ENST00000333244.5	-	7	1259	c.1140G>T	c.(1138-1140)agG>agT	p.R380S		NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	380						nucleus		p.R380S(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCTGTTCTGCCCTCTCCTCTC	0.632000													30	86					1.06801e-11	1.53275e-11	0.009535	1	0
OGDHL	55753	broad.mit.edu	37	10	50953477	50953477	+	Nonsense_Mutation	SNP	G	G	C			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr10:50953477G>C	ENST00000374103.4	-	12	1627	c.1542C>G	c.(1540-1542)taC>taG	p.Y514*	OGDHL_ENST00000432695.1_Nonsense_Mutation_p.Y305*|OGDHL_ENST00000419399.1_Nonsense_Mutation_p.Y457*	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	514					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	p.Y514*(1)		central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						GGATCTGCTTGTACATGAGCG	0.612000													8	52					0	0	0.008291	0	0
ARHGAP36	158763	broad.mit.edu	37	X	130217848	130217848	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chrX:130217848G>A	ENST00000276211.5	+	4	805	c.460G>A	c.(460-462)Gtg>Atg	p.V154M	ARHGAP36_ENST00000370921.1_Missense_Mutation_p.V18M|ARHGAP36_ENST00000370922.1_Missense_Mutation_p.V142M	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	154	Arg-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.V154M(1)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						TCGGGGAAACGTGGTGCGAAG	0.632000													9	128					0	0	0.008291	0	0
TYRO3	7301	broad.mit.edu	37	15	41864678	41864678	+	Silent	SNP	C	C	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr15:41864678C>T	ENST00000263798.3	+	15	2015	c.1791C>T	c.(1789-1791)ccC>ccT	p.P597P	TYRO3_ENST00000559066.1_Silent_p.P552P	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase	597	Protein kinase.					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.P589P(2)|p.P597P(2)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		GCCGTCTCCCCATCCCCATGG	0.597000													8	62					0	0	0.003080	0	0
EPHB4	2050	broad.mit.edu	37	7	100421830	100421830	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr7:100421830C>T	ENST00000358173.3	-	2	586	c.118G>A	c.(118-120)Ggg>Agg	p.G40R	EPHB4_ENST00000477446.1_5'UTR|EPHB4_ENST00000360620.3_Missense_Mutation_p.G40R	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	40					cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity	p.G40R(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)					CTCACCTGCCCGTCCACCTGA	0.592000													10	339					0	0	0.013537	0	0
PTPRT	11122	broad.mit.edu	37	20	40748600	40748600	+	Silent	SNP	T	T	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr20:40748600T>A	ENST00000373198.3	-	21	3160	c.2925A>T	c.(2923-2925)cgA>cgT	p.R975R	PTPRT_ENST00000373190.1_Silent_p.R952R|PTPRT_ENST00000356100.2_Silent_p.R962R|PTPRT_ENST00000373193.3_Silent_p.R956R|PTPRT_ENST00000373201.1_Silent_p.R943R|PTPRT_ENST00000373184.1_Silent_p.R943R|PTPRT_ENST00000373187.1_Silent_p.R953R	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	953	Tyrosine-protein phosphatase 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	p.R975R(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				AGTGCCGAGGTCGATGGTATC	0.493000													38	86					0	0	0.011902	0	0
SEMA3D	223117	broad.mit.edu	37	7	84636143	84636143	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr7:84636143C>A	ENST00000284136.6	-	16	1926	c.1883G>T	c.(1882-1884)aGg>aTg	p.R628M	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	628	Ig-like C2-type.				cell differentiation|nervous system development	extracellular region|membrane	receptor activity	p.R628M(1)		NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						ATCCCCTGACCTCTGGATATA	0.378000													132	156					2.32137e-38	4.30395e-38	0.014410	1	0
CPSF1	29894	broad.mit.edu	37	8	145622835	145622835	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr8:145622835G>A	ENST00000349769.3	-	22	2346	c.2252C>T	c.(2251-2253)tCg>tTg	p.S751L		NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	751					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding	p.S751L(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			GAGGGAGCCCGAATCCCCATA	0.677000													17	75					0	0	0.004990	0	0
GRIN3A	116443	broad.mit.edu	37	9	104432627	104432627	+	Silent	SNP	G	G	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr9:104432627G>A	ENST00000361820.3	-	3	2667	c.2067C>T	c.(2065-2067)gcC>gcT	p.A689A		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	689					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.A689A(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)	TGAGGAAGACGGCAGTGATGT	0.493000													63	64					0	0	0.014410	0	0
ZKSCAN5	23660	broad.mit.edu	37	7	99129089	99129089	+	Nonsense_Mutation	SNP	T	T	A	rs28411998		TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr7:99129089T>A	ENST00000394170.2	+	7	1988	c.1737T>A	c.(1735-1737)tgT>tgA	p.C579*	ZKSCAN5_ENST00000326775.5_Nonsense_Mutation_p.C579*|ZKSCAN5_ENST00000451158.1_Nonsense_Mutation_p.C579*	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	579					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.C579*(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					CATTCAGGTGTGAGGAATGTG	0.473000													33	74					0	0	0.009535	0	0
GIMAP8	155038	broad.mit.edu	37	7	150163991	150163991	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr7:150163991C>A	ENST00000307271.3	+	2	779	c.205C>A	c.(205-207)Ctt>Att	p.L69I		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	69						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding	p.L69I(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		CACCCCTGACCTTTTCTCCTC	0.488000													15	237					1.49906e-05	1.75188e-05	0.002450	1	0
CD93	22918	broad.mit.edu	37	20	23066072	23066072	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr20:23066072G>A	ENST00000246006.4	-	1	905	c.758C>T	c.(757-759)tCg>tTg	p.S253L		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	253					cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding	p.S253L(3)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GAGGGGGCCCGAGCTGCCCCA	0.602000													15	106					0	0	0.003163	0	0
AFF2	2334	broad.mit.edu	37	X	147743758	147743758	+	Silent	SNP	G	G	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chrX:147743758G>T	ENST00000370460.2	+	3	989	c.510G>T	c.(508-510)ctG>ctT	p.L170L	AFF2_ENST00000342251.3_Silent_p.L166L|AFF2_ENST00000370457.5_Silent_p.L166L|AFF2_ENST00000370458.1_Silent_p.L166L	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	170					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	p.L170L(2)		breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					GCACTGTACTGGCAAGCCAGG	0.468000													17	188					4.75885e-15	7.6275e-15	0.004990	1	0
SMARCD2	6603	broad.mit.edu	37	17	61914849	61914849	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr17:61914849C>T	ENST00000448276.2	-	2	618	c.353G>A	c.(352-354)cGc>cAc	p.R118H	SMARCD2_ENST00000225742.9_Missense_Mutation_p.R43H|SMARCD2_ENST00000323347.10_Missense_Mutation_p.R70H	NM_001098426.1	NP_001091896.1	Q92925	SMRD2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2	118	Pro-rich.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex	protein binding|transcription coactivator activity	p.R62H(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)	8						CACAAGCAGGCGTTTTCGGAA	0.632000													38	79					0	0	0.011902	0	0
CDX4	1046	broad.mit.edu	37	X	72667527	72667527	+	Silent	SNP	C	C	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chrX:72667527C>A	ENST00000373514.2	+	1	438	c.438C>A	c.(436-438)gcC>gcA	p.A146A		NM_005193.1	NP_005184.1	O14627	CDX4_HUMAN	caudal type homeobox 4	146						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.A146A(1)		endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18	Renal(35;0.156)					CCGCCAAGGCCAGTTCCCCCA	0.642000													15	28					1.52009e-12	2.25711e-12	0.003163	1	0
PRTG	283659	broad.mit.edu	37	15	55916678	55916678	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr15:55916678C>G	ENST00000389286.4	-	18	3002	c.2955G>C	c.(2953-2955)caG>caC	p.Q985H		NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN	protogenin	985					multicellular organismal development	integral to membrane		p.Q985H(1)		breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		GAGTTCCATTCTGTGCCGTCT	0.433000													7	33					0	0	0.003080	0	0
FMN2	56776	broad.mit.edu	37	1	240497408	240497408	+	Splice_Site	SNP	G	G	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr1:240497408G>T	ENST00000319653.9	+	13	4874		c.e13-1		FMN2_ENST00000545751.1_Splice_Site	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2						actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	p.?(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TTGTTCATTAGGATGCTGGAA	0.348000													58	89					1.39924e-13	2.15219e-13	0.014410	1	0
KLK3	354	broad.mit.edu	37	19	51363278	51363278	+	Silent	SNP	G	G	A	rs61736309	byFrequency	TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr19:51363278G>A	ENST00000326003.2	+	5	722	c.681G>A	c.(679-681)acG>acA	p.T227T	KLK3_ENST00000595952.1_Silent_p.T184T|KLK3_ENST00000360617.3_3'UTR	NM_001030047.1|NM_001030048.1|NM_001648.2	NP_001025218.1|NP_001025219.1|NP_001639.1	P07288	KLK3_HUMAN	kallikrein-related peptidase 3	227	Peptidase S1.				negative regulation of angiogenesis|proteolysis	extracellular region	serine-type endopeptidase activity	p.T227T(1)		breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)		AAGGTATCACGTCATGGGGCA	0.547000													4	76					0	0	0.000602	0	0
ZNF638	27332	broad.mit.edu	37	2	71577285	71577285	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr2:71577285G>T	ENST00000409544.1	+	2	1831	c.1201G>T	c.(1201-1203)Gcc>Tcc	p.A401S	ZNF638_ENST00000377802.2_Missense_Mutation_p.A401S|ZNF638_ENST00000355812.3_Missense_Mutation_p.A401S|ZNF638_ENST00000264447.4_Missense_Mutation_p.A401S|ZNF638_ENST00000410075.1_3'UTR	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	401					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding	p.A401S(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						ACATGCTGATGCCCAGAAGAT	0.408000													20	120					1.00905e-13	1.55902e-13	0.008871	1	0
SSH1	54434	broad.mit.edu	37	12	109186491	109186491	+	Silent	SNP	C	C	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr12:109186491C>A	ENST00000326495.5	-	14	1557	c.1464G>T	c.(1462-1464)ccG>ccT	p.P488P	SSH1_ENST00000551165.1_Silent_p.P488P|SSH1_ENST00000360239.3_Silent_p.P176P|SSH1_ENST00000326470.5_Silent_p.P499P	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	488					actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.P488P(1)|p.P499P(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GCTGGCTTTCCGGGGTGCCAT	0.652000													26	23					2.79863e-10	3.91809e-10	0.004656	1	0
DNAH10	196385	broad.mit.edu	37	12	124393958	124393958	+	Silent	SNP	G	G	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr12:124393958G>T	ENST00000409039.3	+	57	9637	c.9612G>T	c.(9610-9612)tcG>tcT	p.S3204S		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3204	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.S3204S(1)|p.S1796S(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		ATTTTGATTCGATTACCCAGA	0.512000													4	14					0.00024832	0.000280638	0.009096	1	0
TMPRSS9	360200	broad.mit.edu	37	19	2396584	2396584	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr19:2396584C>T	ENST00000332578.3	+	2	190	c.190C>T	c.(190-192)Cgg>Tgg	p.R64W	TMPRSS9_ENST00000592650.1_3'UTR	NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	64					proteolysis	integral to plasma membrane	serine-type endopeptidase activity	p.R64W(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCCGAGCTGCGGGGAATCCG	0.662000													6	4					0	0	0.001168	0	0
PIK3R6	146850	broad.mit.edu	37	17	8770949	8770949	+	Translation_Start_Site	SNP	C	C	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr17:8770949C>A	ENST00000311434.9	-	0	45					NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6						platelet activation	cytosol		p.G17C(1)									TTGGGGGAGCCTCCACGGGTG	0.587000													11	19					2.80697e-09	3.85117e-09	0.010729	1	0
TROAP	10024	broad.mit.edu	37	12	49724266	49724266	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr12:49724266G>T	ENST00000551245.1	+	13	1749	c.1638G>T	c.(1636-1638)gaG>gaT	p.E546D	TROAP_ENST00000257909.3_Missense_Mutation_p.E546D|TROAP_ENST00000547923.1_Missense_Mutation_p.E254D			Q12815	TROAP_HUMAN	trophinin associated protein	546	4 X 33 AA approximate tandem repeats.|Cys-rich.				cell adhesion	cytoplasm		p.E546D(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						AAGTACCAGAGCCCTACCCTC	0.622000													25	60					2.41591e-17	4.00067e-17	0.004656	1	0
HOXC12	3228	broad.mit.edu	37	12	54348814	54348814	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr12:54348814C>T	ENST00000243103.3	+	1	197	c.101C>T	c.(100-102)gCg>gTg	p.A34V		NM_173860.1	NP_776272.1	P31275	HXC12_HUMAN	homeobox C12	34					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.A34V(1)		large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	12						GCGTCCGGGGCGCAGCTTCCC	0.657000													11	24					0	0	0.010729	0	0
CD6	923	broad.mit.edu	37	11	60783254	60783254	+	Missense_Mutation	SNP	A	A	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr11:60783254A>T	ENST00000313421.7	+	9	1643	c.1457A>T	c.(1456-1458)tAt>tTt	p.Y486F	CD6_ENST00000452451.2_Intron|CD6_ENST00000346437.4_Intron|CD6_ENST00000344028.5_Missense_Mutation_p.Y454F|CD6_ENST00000352009.5_Missense_Mutation_p.Y454F	NM_006725.4	NP_006716.3	P30203	CD6_HUMAN	CD6 molecule	486					cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity	p.Y486F(2)		endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						GACTCAGACTATGAGCACTAT	0.627000													119	70					0	0	0.014410	0	0
G6PC2	57818	broad.mit.edu	37	2	169763212	169763212	+	Missense_Mutation	SNP	T	T	G			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr2:169763212T>G	ENST00000375363.3	+	4	571	c.479T>G	c.(478-480)aTt>aGt	p.I160S	G6PC2_ENST00000421979.1_Intron|SPC25_ENST00000472216.2_Intron|G6PC2_ENST00000429379.2_Intron|G6PC2_ENST00000461586.1_Intron	NM_021176.2	NP_066999.1	Q9NQR9	G6PC2_HUMAN	glucose-6-phosphatase, catalytic, 2	160					gluconeogenesis|glucose homeostasis|glucose transport|regulation of insulin secretion|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphatase activity	p.I160S(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	13						TTTTGGTTGATTCAAATCAGT	0.353000													38	65					0	0	0.006230	0	0
TYR	7299	broad.mit.edu	37	11	89028412	89028412	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr11:89028412G>C	ENST00000263321.5	+	5	1970	c.1468G>C	c.(1468-1470)Gcc>Ccc	p.A490P		NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	490					eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity	p.A490P(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	CGTCCTCACTGCCCTGCTGGC	0.537000													25	84					0	0	0.009535	0	0
SPECC1	92521	broad.mit.edu	37	17	20107987	20107987	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr17:20107987G>T	ENST00000395530.2	+	2	590	c.382G>T	c.(382-384)Ggc>Tgc	p.G128C	SPECC1_ENST00000395527.4_Missense_Mutation_p.G209C|SPECC1_ENST00000395525.3_Missense_Mutation_p.G128C|SPECC1_ENST00000536879.1_Intron|SPECC1_ENST00000395522.2_Missense_Mutation_p.G128C|SPECC1_ENST00000472876.1_Intron|SPECC1_ENST00000395529.3_Missense_Mutation_p.G209C|AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000261503.5_Missense_Mutation_p.G209C	NM_001033555.2	NP_001028727.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	209						nucleus		p.G209C(1)		breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		TGATGCTTTGGGCCCAAATGT	0.438000													48	94					9.22156e-22	1.57755e-21	0.014410	1	0
ABCA10	10349	broad.mit.edu	37	17	67212137	67212137	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr17:67212137G>T	ENST00000269081.4	-	9	1586	c.677C>A	c.(676-678)gCa>gAa	p.A226E	ABCA10_ENST00000432313.2_Missense_Mutation_p.A226E|ABCA10_ENST00000416101.2_Missense_Mutation_p.A226E	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	226					transport	integral to membrane	ATP binding|ATPase activity	p.A226E(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					GAAAGCCAATGCTATCTGAAG	0.368000													6	55					0.00116845	0.00129283	0.001168	1	0
UNC13B	10497	broad.mit.edu	37	9	35376131	35376131	+	Missense_Mutation	SNP	A	A	G			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr9:35376131A>G	ENST00000378495.3	+	14	1697	c.1475A>G	c.(1474-1476)tAt>tGt	p.Y492C	UNC13B_ENST00000396787.1_Missense_Mutation_p.Y504C|UNC13B_ENST00000378496.4_Missense_Mutation_p.Y492C	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	492					excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity	p.Y492C(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			ACCTACTGCTATGAGTGTGAA	0.547000													41	60					0	0	0.011902	0	0
ANKRD20A11P	391267	broad.mit.edu	37	21	15352034	15352034	+	RNA	SNP	G	G	C			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr21:15352034G>C	ENST00000344693.5	-	0	724					NR_027270.1													p.D64E(1)									TGTGCTGCTTGTCCAGGGCGT	0.711000													17	22					0	0	0.004990	0	0
OTOP2	92736	broad.mit.edu	37	17	72926892	72926892	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr17:72926892G>C	ENST00000331427.4	+	6	1254	c.1162G>C	c.(1162-1164)Gtg>Ctg	p.V388L	OTOP2_ENST00000580223.1_Missense_Mutation_p.V388L	NM_178160.2	NP_835454.1	Q7RTS6	OTOP2_HUMAN	otopetrin 2	388						integral to membrane		p.V388L(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39	all_lung(278;0.172)|Lung NSC(278;0.207)					CTACTCCATCGTGGCTGTGGT	0.617000													7	27					0	0	0.001984	0	0
ARHGAP6	395	broad.mit.edu	37	X	11204553	11204553	+	Splice_Site	SNP	T	T	C			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chrX:11204553T>C	ENST00000337414.4	-	5	1950		c.e5-2		ARHGAP6_ENST00000413512.3_Splice_Site|ARHGAP6_ENST00000380718.1_Splice_Site|ARHGAP6_ENST00000534860.1_Splice_Site|ARHGAP6_ENST00000380732.3_Splice_Site|ARHGAP6_ENST00000303025.6_Splice_Site|ARHGAP6_ENST00000380736.1_Splice_Site	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6						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	p.?(1)		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						CATGGCACCCTGCAAGTGACA	0.443000													9	117					0	0	0.004482	0	0
TCEAL5	340543	broad.mit.edu	37	X	102529194	102529194	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chrX:102529194G>T	ENST00000372680.1	-	3	592	c.298C>A	c.(298-300)Ccg>Acg	p.P100T		NM_001012979.2	NP_001012997.1	Q5H9L2	TCAL5_HUMAN	transcription elongation factor A (SII)-like 5	100					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.P100T(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						GCGGCCCGCGGCTGGCTCTCT	0.592000													17	139					3.52763e-06	4.27554e-06	0.004990	1	0
PIK3C2A	5286	broad.mit.edu	37	11	17190358	17190358	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr11:17190358C>G	ENST00000265970.7	-	1	930	c.931G>C	c.(931-933)Gag>Cag	p.E311Q	PIK3C2A_ENST00000540361.1_Intron|PIK3C2A_ENST00000531428.1_Intron	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	311					cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	p.E311Q(1)		central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	GTCGATCTCTCTTCAAGAAGA	0.393000													6	77					0	0	0.001984	0	0
SDPR	8436	broad.mit.edu	37	2	192700895	192700895	+	Silent	SNP	G	G	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr2:192700895G>A	ENST00000304141.4	-	2	1361	c.1032C>T	c.(1030-1032)agC>agT	p.S344S		NM_004657.5	NP_004648.1	O95810	SDPR_HUMAN	serum deprivation response	344						caveola|cytosol	phosphatidylserine binding|protein binding	p.S344S(1)		NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	CCACCAGAGCGCTGGCGAGGG	0.562000													52	98					0	0	0.014410	0	0
AKNA	80709	broad.mit.edu	37	9	117138926	117138926	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr9:117138926C>A	ENST00000307564.4	-	3	1322	c.1161G>T	c.(1159-1161)aaG>aaT	p.K387N	AKNA_ENST00000374075.5_Missense_Mutation_p.K306N|AKNA_ENST00000312033.3_Missense_Mutation_p.K387N|AKNA_ENST00000374088.3_Missense_Mutation_p.K387N|AKNA_ENST00000223791.3_5'UTR	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	387					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.K387N(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						GGGCCTGAGGCTTCCTGTTGT	0.587000													22	58					1.85244e-09	2.55689e-09	0.003330	1	0
BSND	7809	broad.mit.edu	37	1	55474247	55474247	+	Silent	SNP	C	C	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr1:55474247C>A	ENST00000371265.4	+	4	1163	c.909C>A	c.(907-909)gcC>gcA	p.A303A		NM_057176.2	NP_476517.1	Q8WZ55	BSND_HUMAN	Bartter syndrome, infantile, with sensorineural deafness (Barttin)	303						basolateral plasma membrane|cytoplasm|integral to plasma membrane|protein complex		p.A303A(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17						CAGATGGAGCCGGGGACCTCC	0.582000													18	60					1.28384e-07	1.65859e-07	0.012319	1	0
TPR	7175	broad.mit.edu	37	1	186344160	186344160	+	Translation_Start_Site	SNP	T	T	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr1:186344160T>A	ENST00000367478.3	-	1	297	c.1A>T	c.(1-3)Atg>Ttg	p.M1L	TPR_ENST00000474852.1_5'UTR	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	1					carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity	p.M1L(2)		autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		ACCGCCGCCATGTCGGTGGGG	0.622000			T	NTRK1	papillary thyroid								6	34					0	0	0.001168	0	0
GALC	2581	broad.mit.edu	37	14	88431915	88431915	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr14:88431915C>G	ENST00000261304.2	-	9	1073	c.967G>C	c.(967-969)Ggg>Cgg	p.G323R	GALC_ENST00000393568.4_Missense_Mutation_p.G300R|GALC_ENST00000544807.2_Missense_Mutation_p.G267R|GALC_ENST00000393569.2_Missense_Mutation_p.G297R	NM_000153.3|NM_001201401.1	NP_000144.2|NP_001188330.1	P54803	GALC_HUMAN	galactosylceramidase	323			G -> R (in GLD).		carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity	p.G323W(1)|p.G323R(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GTCATCAACCCGCATCTCCCA	0.448000													20	54					0	0	0.008871	0	0
PLCH2	9651	broad.mit.edu	37	1	2430207	2430207	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr1:2430207G>A	ENST00000449969.1	+	18	2454	c.2293G>A	c.(2293-2295)Gag>Aag	p.E765K	PLCH2_ENST00000378483.2_3'UTR|PLCH2_ENST00000419816.2_Missense_Mutation_p.E792K|PLCH2_ENST00000288766.5_Missense_Mutation_p.E80K|PLCH2_ENST00000378488.3_Missense_Mutation_p.E756K|PLCH2_ENST00000378486.3_Missense_Mutation_p.E792K			O75038	PLCH2_HUMAN	phospholipase C, eta 2	792	C2.				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.E639K(1)|p.E792K(1)		central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		TGTGGAGGTGGAGATCATTGG	0.672000													4	10					0	0	0.000602	0	0
OR4P4	81300	broad.mit.edu	37	11	55406106	55406106	+	Silent	SNP	C	C	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr11:55406106C>A	ENST00000314612.2	+	1	273	c.273C>A	c.(271-273)tcC>tcA	p.S91S		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S91S(1)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						AGACCATTTCCTATAATAACT	0.418000													103	125					1.85837e-24	3.28568e-24	0.014410	1	0
PLIN4	729359	broad.mit.edu	37	19	4512005	4512005	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr19:4512005G>T	ENST00000301286.3	-	3	1924	c.1925C>A	c.(1924-1926)aCc>aAc	p.T642N		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	642	27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane		p.T570N(1)|p.T642N(1)		NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						GATATTTTGGGTCGTTTTCAG	0.562000													48	86					1.89013e-27	3.42118e-27	0.014410	1	0
BMP7	655	broad.mit.edu	37	20	55758937	55758937	+	Silent	SNP	G	G	T	rs148287752		TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr20:55758937G>T	ENST00000395863.3	-	4	1304	c.799C>A	c.(799-801)Cgg>Agg	p.R267R	BMP7_ENST00000395864.3_Intron|BMP7_ENST00000450594.2_Silent_p.R267R|BMP7_ENST00000460817.1_5'UTR	NM_001719.2	NP_001710.1	P18075	BMP7_HUMAN	bone morphogenetic protein 7	267					BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development	extracellular space	cytokine activity|growth factor activity	p.R267R(1)		endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)			GGCCCGTGCCGCCCAATCAGG	0.627000													9	26					7.48243e-07	9.401e-07	0.006214	1	0
PITX2	5308	broad.mit.edu	37	4	111539486	111539486	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr4:111539486C>T	ENST00000354925.2	-	7	2454	c.749G>A	c.(748-750)aGc>aAc	p.S250N	PITX2_ENST00000394595.3_3'UTR|PITX2_ENST00000355080.5_Missense_Mutation_p.S204N|PITX2_ENST00000394598.2_Missense_Mutation_p.S250N|PITX2_ENST00000306732.3_Missense_Mutation_p.S257N	NM_001204397.1	NP_001191326.1	Q99697	PITX2_HUMAN	paired-like homeodomain 2	250					determination of left/right symmetry|organ morphogenesis	transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.S257N(1)|p.S250N(1)		breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		CAGCGACGGGCTACTCAGGTT	0.597000													19	30					0	0	0.006122	0	0
LTBP1	4052	broad.mit.edu	37	2	33246225	33246225	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr2:33246225C>A	ENST00000404816.2	+	3	1168	c.815C>A	c.(814-816)aCc>aAc	p.T272N	LTBP1_ENST00000354476.3_Missense_Mutation_p.T272N			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	272					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	p.T272N(1)		breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				ATGACCTTAACCCTCAAGCCG	0.498000													16	88					6.49762e-13	9.71104e-13	0.006122	1	0
C7	730	broad.mit.edu	37	5	40945338	40945338	+	Silent	SNP	T	T	C			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr5:40945338T>C	ENST00000313164.9	+	7	965	c.606T>C	c.(604-606)aaT>aaC	p.N202N		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	202	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex		p.N202N(1)					Ovarian(839;0.0112)				AATTTTACAATAGTACTTGGT	0.303000													6	9					0	0	0.001168	0	0
FGF23	8074	broad.mit.edu	37	12	4479814	4479814	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr12:4479814G>T	ENST00000237837.1	-	3	596	c.451C>A	c.(451-453)Cca>Aca	p.P151T		NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23	151					cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process	extracellular space	growth factor activity	p.P151T(1)		NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			TACGGGGGTGGGTTCATGCCT	0.617000													38	92					3.33393e-15	5.36873e-15	0.004878	1	0
CD1D	912	broad.mit.edu	37	1	158152695	158152695	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr1:158152695G>T	ENST00000368171.3	+	5	1134	c.635G>T	c.(634-636)gGc>gTc	p.G212V		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	212	Ig-like.				antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding	p.G212V(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					CTGTCCCGTGGCCCCAGTCCT	0.572000													37	77					3.62531e-18	6.06576e-18	0.004289	1	0
ETV1	2115	broad.mit.edu	37	7	13935690	13935690	+	Missense_Mutation	SNP	T	T	C			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr7:13935690T>C	ENST00000343495.5	-	13	1919	c.1181A>G	c.(1180-1182)tAc>tGc	p.Y394C	ETV1_ENST00000405218.2_Missense_Mutation_p.Y412C|ETV1_ENST00000430479.1_Missense_Mutation_p.Y412C|ETV1_ENST00000405358.4_Missense_Mutation_p.Y426C|ETV1_ENST00000403527.1_Missense_Mutation_p.Y372C|ETV1_ENST00000242066.5_Missense_Mutation_p.Y394C|ETV1_ENST00000399357.3_Missense_Mutation_p.Y309C|ETV1_ENST00000420159.2_Missense_Mutation_p.Y354C|ETV1_ENST00000403685.1_Missense_Mutation_p.Y394C|ETV1_ENST00000405192.2_Missense_Mutation_p.Y389C			P50549	ETV1_HUMAN	ets variant 1	412					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.Y412C(1)|p.Y372C(1)	TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						CACAAACTTGTAGACATATCT	0.478000			T	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""	"""Ewing sarcoma, prostate"""								7	18					0	0	0.003080	0	0
GPR83	10888	broad.mit.edu	37	11	94126755	94126755	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr11:94126755G>C	ENST00000243673.2	-	3	714	c.543C>G	c.(541-543)atC>atG	p.I181M	GPR83_ENST00000539203.2_Missense_Mutation_p.I139M	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	181						integral to membrane|plasma membrane	neuropeptide Y receptor activity	p.I181M(1)		NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TTGTGATTGAGATCCGGGGTT	0.453000													23	73					0	0	0.003954	0	0
PRTG	283659	broad.mit.edu	37	15	55964743	55964743	+	Silent	SNP	A	A	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr15:55964743A>T	ENST00000389286.4	-	11	1988	c.1941T>A	c.(1939-1941)gcT>gcA	p.A647A		NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN	protogenin	647	Fibronectin type-III 3.				multicellular organismal development	integral to membrane		p.A647A(1)		breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		AGCCCTGAATAGCAGCTGTGT	0.488000													31	38					0	0	0.008361	0	0
DSC3	1825	broad.mit.edu	37	18	28602364	28602364	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr18:28602364G>C	ENST00000434452.1	-	7	1034	c.880C>G	c.(880-882)Ctc>Gtc	p.L294V	DSC3_ENST00000360428.4_Missense_Mutation_p.L294V	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3	294	Cadherin 2.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding	p.L294V(2)		endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			ACAGAAAAGAGCCCAGGTGAC	0.498000													26	48					0	0	0.003954	0	0
ABCB7	22	broad.mit.edu	37	X	74290242	74290242	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chrX:74290242C>T	ENST00000253577.3	-	10	1350	c.1326G>A	c.(1324-1326)atG>atA	p.M442I	ABCB7_ENST00000339447.4_Missense_Mutation_p.M401I|ABCB7_ENST00000534570.1_5'UTR|ABCB7_ENST00000373394.3_Missense_Mutation_p.M441I	NM_001271696.1|NM_004299.3	NP_001258625.1|NP_004290.2	O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 7	441					cellular iron ion homeostasis	integral to membrane|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity	p.M442I(1)		breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						ACAAGGTGTTCATATCTATGA	0.358000													17	224					0	0	0.004990	0	0
BRWD3	254065	broad.mit.edu	37	X	79980529	79980529	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chrX:79980529G>A	ENST00000373275.4	-	15	1640	c.1424C>T	c.(1423-1425)cCa>cTa	p.P475L		NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	475								p.P475L(1)		breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						TTGATCAAATGGATGGGCTTC	0.358000													3	46					0	0	0.004672	0	0
TMEM131	23505	broad.mit.edu	37	2	98392318	98392318	+	Silent	SNP	C	C	T	rs61745536	by1000genomes	TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr2:98392318C>T	ENST00000186436.5	-	32	4536	c.4308G>A	c.(4306-4308)ccG>ccA	p.P1436P		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	1436	Lys-rich.					integral to membrane		p.P1323P(1)|p.P1436P(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						CCTTGAGGAGCGGTTCTGTGT	0.517000													4	28					0	0	0.009096	0	0
PAX6	5080	broad.mit.edu	37	11	31811563	31811563	+	Silent	SNP	G	G	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr11:31811563G>T	ENST00000419022.1	-	14	1698	c.1230C>A	c.(1228-1230)ctC>ctA	p.L410L	PAX6_ENST00000379123.5_Silent_p.L396L|PAX6_ENST00000379132.3_Silent_p.L396L|PAX6_ENST00000379107.2_Silent_p.L410L|PAX6_ENST00000379111.2_Silent_p.L396L|PAX6_ENST00000379115.4_Silent_p.L410L|PAX6_ENST00000379129.2_Silent_p.L410L|PAX6_ENST00000241001.8_Silent_p.L396L	NM_001127612.1|NM_001258462.1|NM_001258463.1	NP_001121084.1|NP_001245391.1|NP_001245392.1	P26367	PAX6_HUMAN	paired box 6	396	Pro/Ser/Thr-rich.				blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity	p.L410L(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	Lung SC(675;0.225)					CAGGGGAAATGAGTCCTAGAA	0.323000									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation				12	18					9.31168e-06	1.10707e-05	0.001855	1	0
SPEF2	79925	broad.mit.edu	37	5	35779385	35779385	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr5:35779385G>T	ENST00000440995.2	+	30	4369	c.4369G>T	c.(4369-4371)Ggt>Tgt	p.G1457C	CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Missense_Mutation_p.G1462C|SPEF2_ENST00000303129.4_5'UTR			Q9C093	SPEF2_HUMAN	sperm flagellar 2	1462					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	p.G1462C(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)			GGAAGAAGATGGTACCCTGAC	0.383000													13	72					7.93312e-07	9.91279e-07	0.002450	1	0
ALKBH4	54784	broad.mit.edu	37	7	102097955	102097955	+	Silent	SNP	G	G	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr7:102097955G>A	ENST00000292566.3	-	3	834	c.795C>T	c.(793-795)cgC>cgT	p.R265R		NM_017621.3	NP_060091.1	Q9NXW9	ALKB4_HUMAN	alkB, alkylation repair homolog 4 (E. coli)	265						cytoplasm|nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.R265R(1)		kidney(1)|lung(5)|skin(2)	8						TGACGCAGACGCGGCGGGCCT	0.682000													6	85					0	0	0.001168	0	0
UBC	7316	broad.mit.edu	37	12	125397907	125397907	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr12:125397907G>C	ENST00000536769.1	-	1	1987	c.411C>G	c.(409-411)atC>atG	p.I137M	UBC_ENST00000538617.1_Missense_Mutation_p.I137M|UBC_ENST00000546120.1_Intron|UBC_ENST00000339647.5_Missense_Mutation_p.I137M			P0CG48	UBC_HUMAN	ubiquitin C	137	Ubiquitin-like 2.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	p.I137M(1)		breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		ACTCTTTCTGGATGTTGTAGT	0.552000													29	175					0	0	0.010771	0	0
HIBCH	26275	broad.mit.edu	37	2	191159310	191159310	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr2:191159310G>A	ENST00000392332.3	-	4	405	c.266C>T	c.(265-267)gCa>gTa	p.A89V	HIBCH_ENST00000359678.5_Missense_Mutation_p.A89V			Q6NVY1	HIBCH_HUMAN	3-hydroxyisobutyryl-CoA hydrolase	89					branched chain family amino acid catabolic process	mitochondrial matrix	3-hydroxyisobutyryl-CoA hydrolase activity|protein binding	p.A89V(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)			CTTTCCTCCTGCTCCCTTTAT	0.398000													21	41					0	0	0.004656	0	0
GABRG1	2565	broad.mit.edu	37	4	46099303	46099303	+	Silent	SNP	G	G	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr4:46099303G>T	ENST00000295452.4	-	2	335	c.168C>A	c.(166-168)gcC>gcA	p.A56A		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	56					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	p.A56A(1)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		GAATTTTTGGGGCCAAGACCC	0.368000													60	155					7.55815e-43	1.42052e-42	0.014410	1	0
BCLAF1	9774	broad.mit.edu	37	6	136599694	136599694	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr6:136599694G>T	ENST00000531224.1	-	4	577	c.325C>A	c.(325-327)Cgt>Agt	p.R109S	BCLAF1_ENST00000527759.1_Missense_Mutation_p.R107S|BCLAF1_ENST00000530767.1_Missense_Mutation_p.R109S|BCLAF1_ENST00000527536.1_Missense_Mutation_p.R109S|BCLAF1_ENST00000353331.4_Missense_Mutation_p.R107S|BCLAF1_ENST00000392348.2_Missense_Mutation_p.R107S	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	109					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	p.R109S(1)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		GAACGTGAACGACCTCGTCTA	0.468000													49	209					6.81593e-30	1.24686e-29	0.014410	1	0
FOLH1B	219595	broad.mit.edu	37	11	89421795	89421795	+	RNA	SNP	C	C	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr11:89421795C>A	ENST00000532352.1	+	0	1465							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity	p.Q218K(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						GGTGTTCTTCCAACGACTTGG	0.313000													62	137					1.21526e-53	2.2903e-53	0.014410	1	0
FAM47C	442444	broad.mit.edu	37	X	37029346	37029346	+	Nonsense_Mutation	SNP	G	G	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chrX:37029346G>T	ENST00000358047.3	+	1	2915	c.2863G>T	c.(2863-2865)Gaa>Taa	p.E955*		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	955								p.E955*(2)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						AAGAAGTGATGAACCTTTGAT	0.438000													51	122					8.5822e-43	1.60858e-42	0.014410	1	0
FAM90A1	55138	broad.mit.edu	37	12	8377324	8377324	+	Silent	SNP	G	G	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr12:8377324G>T	ENST00000538603.1	-	4	663	c.105C>A	c.(103-105)ccC>ccA	p.P35P	FAM90A1_ENST00000307435.6_Silent_p.P35P	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN	family with sequence similarity 90, member A1	35							nucleic acid binding|zinc ion binding	p.P35P(1)		endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		CTTCTTCATCGGGCGGGGGAG	0.652000													8	10					5.18039e-06	6.22373e-06	0.003080	1	0
OTOGL	283310	broad.mit.edu	37	12	80762012	80762012	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr12:80762012G>A	ENST00000458043.2	+	54	6517	c.6511G>A	c.(6511-6513)Gat>Aat	p.D2171N	OTOGL_ENST00000547103.1_Missense_Mutation_p.D2159N|OTOGL_ENST00000546620.1_Missense_Mutation_p.D190N	NM_173591.3	NP_775862.3			otogelin-like									p.D2171N(1)|p.D536N(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						ATCCCCAAGTGATTATGGTTG	0.358000													4	6					0	0	0.009096	0	0
COL11A1	1301	broad.mit.edu	37	1	103474073	103474073	+	Splice_Site	SNP	C	C	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr1:103474073C>A	ENST00000358392.2	-	15	1983		c.e15-1		COL11A1_ENST00000353414.4_Splice_Site|COL11A1_ENST00000512756.1_Splice_Site|COL11A1_ENST00000370096.3_Splice_Site	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1						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.?(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)		CAGGCCCCCCCTATAGAGAAA	0.353000													8	52					0.00448238	0.00487308	0.004482	1	0
ROCK2	9475	broad.mit.edu	37	2	11484250	11484250	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr2:11484250G>A	ENST00000315872.6	-	1	461	c.13C>T	c.(13-15)Ccg>Tcg	p.P5S	ROCK2_ENST00000462366.1_Intron	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	5					axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity	p.P5S(2)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		CCCGTCGGCGGGGGCCGGCTC	0.766000													3	5					0	0	0.009096	0	0
PGK2	5232	broad.mit.edu	37	6	49754640	49754640	+	Silent	SNP	G	G	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr6:49754640G>A	ENST00000304801.3	-	1	413	c.261C>T	c.(259-261)tcC>tcT	p.S87S		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	87					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity	p.S87S(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)					TGCCCAGCAAGGATTTGAGCT	0.517000													36	109					0	0	0.003271	0	0
SLC16A1	6566	broad.mit.edu	37	1	113471717	113471717	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr1:113471717C>T	ENST00000538576.1	-	2	1045	c.214G>A	c.(214-216)Gga>Aga	p.G72R	SLC16A1_ENST00000433570.4_Missense_Mutation_p.G72R|SLC16A1_ENST00000369626.3_Missense_Mutation_p.G72R|SLC16A1_ENST00000478835.1_5'UTR	NM_001166496.1	NP_001159968.1	P53985	MOT1_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 1	72					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.G72R(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)	TACTTACCTCCACCATACATG	0.378000													4	25					0	0	0.009096	0	0
MTUS2	23281	broad.mit.edu	37	13	29599271	29599271	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr13:29599271G>T	ENST00000431530.3	+	1	524	c.466G>T	c.(466-468)Gtt>Ttt	p.V156F		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	146						cytoplasm|microtubule	microtubule binding|protein homodimerization activity	p.V156F(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						CAGTCTAGACGTTTTGGCTAA	0.507000													11	86					2.68362e-12	3.94211e-12	0.013537	1	0
FSIP2	401024	broad.mit.edu	37	2	186671625	186671625	+	Silent	SNP	T	T	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr2:186671625T>A	ENST00000343098.5	+	17	17859	c.17859T>A	c.(17857-17859)ccT>ccA	p.P5953P	FSIP2_ENST00000424728.1_Silent_p.P5864P	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2									p.P562P(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						CTTCAGTTCCTAAAGTACCTC	0.393000													5	49					0	0	0.000602	0	0
JPH3	57338	broad.mit.edu	37	16	87678336	87678336	+	Silent	SNP	C	C	A	rs112449440		TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr16:87678336C>A	ENST00000284262.2	+	2	1097	c.855C>A	c.(853-855)acC>acA	p.T285T		NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	285					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding	p.T285T(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		CCACCACCACCGAGACCTACG	0.672000													15	41					0.000422831	0.000475512	0.004007	1	0
C2orf78	388960	broad.mit.edu	37	2	74043796	74043796	+	Missense_Mutation	SNP	A	A	G			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr2:74043796A>G	ENST00000409561.1	+	3	2567	c.2446A>G	c.(2446-2448)Aaa>Gaa	p.K816E		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	816								p.K816E(1)|p.K786E(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						ATCAGCCTACAAAACATCATC	0.512000													6	32					0	0	0.001168	0	0
IBSP	3381	broad.mit.edu	37	4	88731895	88731895	+	Silent	SNP	T	T	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr4:88731895T>A	ENST00000226284.5	+	6	451	c.384T>A	c.(382-384)gcT>gcA	p.A128A		NM_004967.3	NP_004958.2	P21815	SIAL_HUMAN	integrin-binding sialoprotein	128	Asp/Glu-rich (acidic).				biomineral tissue development|cell adhesion|ossification			p.A128A(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)	21		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)		CAGGGTTAGCTGCAATCCAGC	0.398000													21	68					0	0	0.008871	0	0
GYS2	2998	broad.mit.edu	37	12	21721852	21721852	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr12:21721852G>T	ENST00000261195.2	-	5	1024	c.770C>A	c.(769-771)aCg>aAg	p.T257K		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	257					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity	p.T257K(1)		NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TTCAGAAACCGTGGTGAACAC	0.438000													26	85					1.64293e-13	2.52137e-13	0.003330	1	0
TNR	7143	broad.mit.edu	37	1	175365812	175365812	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr1:175365812G>C	ENST00000367674.1	-	5	1816	c.1108C>G	c.(1108-1110)Cag>Gag	p.Q370E	TNR_ENST00000263525.2_Missense_Mutation_p.Q370E	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	370	Fibronectin type-III 1.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.Q370E(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					ACCCGCTGCTGGAGCTGGAGG	0.587000													7	60					0	0	0.003080	0	0
SPTA1	6708	broad.mit.edu	37	1	158650416	158650416	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr1:158650416C>A	ENST00000368148.3	-	5	815	c.635G>T	c.(634-636)gGg>gTg	p.G212V	SPTA1_ENST00000368147.3_Missense_Mutation_p.G212V	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	212					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.G212V(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AACAACTCTCCCTTCTTTAGC	0.463000													48	85					2.01872e-29	3.68308e-29	0.014410	1	0
ZER1	10444	broad.mit.edu	37	9	131502332	131502332	+	Silent	SNP	G	G	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr9:131502332G>A	ENST00000291900.2	-	13	2326	c.1920C>T	c.(1918-1920)caC>caT	p.H640H		NM_006336.2	NP_006327.2	Q7Z7L7	ZER1_HUMAN	zyg-11 related, cell cycle regulator	640					ATP hydrolysis coupled proton transport|regulation of ubiquitin-protein ligase activity	Cul2-RING ubiquitin ligase complex|vacuolar proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism|ubiquitin-protein ligase activity	p.H640H(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	15						CAAACATGATGTGGGAGAGGA	0.582000													9	36					0	0	0.006214	0	0
CCDC61	729440	broad.mit.edu	37	19	46509878	46509878	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr19:46509878G>T	ENST00000263284.2	+	5	464	c.464G>T	c.(463-465)cGc>cTc	p.R155L	CCDC61_ENST00000595358.1_Missense_Mutation_p.R98L|CCDC61_ENST00000594087.1_Missense_Mutation_p.R98L|CCDC61_ENST00000536603.1_Missense_Mutation_p.R98L					coiled-coil domain containing 61									p.R155L(1)		endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00221)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.164)		CTGCGGAACCGCAAGATGGGG	0.632000													17	18					9.16793e-09	1.24292e-08	0.004990	1	0
DGKD	8527	broad.mit.edu	37	2	234365975	234365975	+	Splice_Site	SNP	G	G	C			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr2:234365975G>C	ENST00000264057.2	+	21	2592		c.e21+1		DGKD_ENST00000409813.3_Splice_Site	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity	p.?(1)		central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	GGAAGATGATGTATGTATGGG	0.582000													11	59					0	0	0.008291	0	0
RRP9	9136	broad.mit.edu	37	3	51968721	51968721	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr3:51968721C>G	ENST00000232888.6	-	12	1179	c.1106G>C	c.(1105-1107)gGa>gCa	p.G369A		NM_004704.3	NP_004695.1	O43818	U3IP2_HUMAN	ribosomal RNA processing 9, small subunit (SSU) processome component, homolog (yeast)	369					rRNA processing	nucleolus|small nuclear ribonucleoprotein complex|small nucleolar ribonucleoprotein complex	RNA binding	p.G369A(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|skin(1)	21				BRCA - Breast invasive adenocarcinoma(193;8.04e-05)|Kidney(197;0.000553)|KIRC - Kidney renal clear cell carcinoma(197;0.000724)		GCCTGGCTCTCCCCGCAGCCC	0.617000													41	25					0	0	0.008740	0	0
NCKAP5	344148	broad.mit.edu	37	2	133541592	133541592	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr2:133541592G>T	ENST00000409261.1	-	14	3165	c.2792C>A	c.(2791-2793)cCc>cAc	p.P931H	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.P931H|NCKAP5_ENST00000405974.3_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	931	Poly-Pro.			PP -> QS (in Ref. 5; BAA22433).			protein binding	p.P931H(1)		NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GCCTGGAGGGGGCGGAGGGGA	0.622000													8	30					0.00307968	0.00336947	0.003080	1	0
RAB9B	51209	broad.mit.edu	37	X	103080375	103080375	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chrX:103080375G>A	ENST00000243298.2	-	3	624	c.340C>T	c.(340-342)Cct>Tct	p.P114S		NM_016370.2	NP_057454.1	Q9NP90	RAB9B_HUMAN	RAB9B, member RAS oncogene family	114					Golgi to endosome transport|protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|protein binding	p.P114S(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(11)	14						AAATGCTCAGGGTCCTTCACA	0.483000													165	179					0	0	0.014410	0	0
RYR2	6262	broad.mit.edu	37	1	237944870	237944870	+	Silent	SNP	C	C	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr1:237944870C>A	ENST00000366574.2	+	89	12203	c.11886C>A	c.(11884-11886)tcC>tcA	p.S3962S	RYR2_ENST00000360064.6_Silent_p.S3968S|RYR2_ENST00000542537.1_Silent_p.S3946S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3962					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.S3960S(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)			TTCAGGATTCCAGTCAAATTG	0.338000													6	9					3.59834e-05	4.16969e-05	0.001168	1	0
SOGA2	23255	broad.mit.edu	37	18	8783547	8783547	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr18:8783547G>T	ENST00000359865.3	+	6	579	c.437G>T	c.(436-438)aGg>aTg	p.R146M	SOGA2_ENST00000517570.1_Missense_Mutation_p.R146M|SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000306329.11_Missense_Mutation_p.R506M|SOGA2_ENST00000400050.3_Missense_Mutation_p.R146M	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN	SOGA family member 2	497								p.R146M(1)									GCCGATTTGAGGTGCCAGCTC	0.517000													8	11					3.09899e-07	3.96624e-07	0.004482	1	0
OLR1	4973	broad.mit.edu	37	12	10312555	10312555	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr12:10312555C>G	ENST00000309539.3	-	6	806	c.746G>C	c.(745-747)gGa>gCa	p.G249A	OLR1_ENST00000545927.1_3'UTR|OLR1_ENST00000543993.1_3'UTR|OLR1_ENST00000544577.1_Intron|OLR1_ENST00000432556.2_3'UTR	NM_002543.3	NP_002534.1	P78380	OLR1_HUMAN	oxidized low density lipoprotein (lectin-like) receptor 1	249	C-type lectin.				blood circulation|blood coagulation|inflammatory response|leukocyte migration|proteolysis	extracellular region|integral to plasma membrane|membrane fraction	sugar binding	p.G249A(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	10						ATAAACAGCTCCTCGTTGTAT	0.428000													37	128					0	0	0.004289	0	0
BTNL8	79908	broad.mit.edu	37	5	180338550	180338550	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr5:180338550C>A	ENST00000231229.4	+	3	843	c.609C>A	c.(607-609)agC>agA	p.S203R	BTNL8_ENST00000533815.2_Missense_Mutation_p.S19R|BTNL8_ENST00000340184.4_Missense_Mutation_p.S203R|BTNL8_ENST00000511704.1_Missense_Mutation_p.S87R|BTNL8_ENST00000505126.1_5'UTR|BTNL8_ENST00000508408.1_Missense_Mutation_p.S203R|BTNL8_ENST00000400707.3_Missense_Mutation_p.S78R	NM_001159708.1|NM_024850.2	NP_001153180.1|NP_079126.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	203	Ig-like V-type 2.					integral to membrane		p.S203R(2)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-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)			ACGCCGGGAGCATATCCTGTT	0.547000													26	47					4.87955e-14	7.59042e-14	0.005443	1	0
DOPEY1	23033	broad.mit.edu	37	6	83829489	83829489	+	Silent	SNP	C	C	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr6:83829489C>T	ENST00000349129.2	+	9	1163	c.903C>T	c.(901-903)atC>atT	p.I301I	DOPEY1_ENST00000369739.3_Intron|DOPEY1_ENST00000536812.1_3'UTR|DOPEY1_ENST00000237163.5_Intron	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	301					protein transport			p.I301I(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)		ACGGTGCTATCATAGGACCCA	0.338000													9	94					0	0	0.010729	0	0
EYA4	2070	broad.mit.edu	37	6	133849873	133849873	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr6:133849873C>A	ENST00000367895.5	+	20	2314	c.1850C>A	c.(1849-1851)cCc>cAc	p.P617H	EYA4_ENST00000355286.6_Missense_Mutation_p.P594H|EYA4_ENST00000431403.2_Missense_Mutation_p.P617H|RP3-323P13.2_ENST00000607033.1_RNA|EYA4_ENST00000430974.2_Intron|EYA4_ENST00000525849.1_Missense_Mutation_p.P594H|EYA4_ENST00000355167.3_Missense_Mutation_p.P617H|EYA4_ENST00000531901.1_Missense_Mutation_p.P623H|EYA4_ENST00000452339.2_Missense_Mutation_p.P563H	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	eyes absent homolog 4 (Drosophila)	617					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	p.P617H(2)		breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		CACAACATGCCCTTCTGGAGG	0.483000													49	185					2.81731e-22	4.84379e-22	0.014410	1	0
ADAMTS15	170689	broad.mit.edu	37	11	130343194	130343194	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr11:130343194G>T	ENST00000299164.2	+	8	2331	c.2331G>T	c.(2329-2331)gaG>gaT	p.E777D		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	777	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.E777D(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		CCATCCTGGAGCCGCTGACCG	0.677000													31	75					7.26314e-15	1.15336e-14	0.007291	1	0
ZNF518B	85460	broad.mit.edu	37	4	10445318	10445318	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr4:10445318G>C	ENST00000326756.3	-	3	3073	c.2635C>G	c.(2635-2637)Ctg>Gtg	p.L879V		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	879					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L879V(1)		breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						CTGGAAAGCAGTCTCCCTTGC	0.393000													10	85					0	0	0.006214	0	0
SYNE1	23345	broad.mit.edu	37	6	152542080	152542080	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr6:152542080G>A	ENST00000367255.5	-	119	22359	c.21758C>T	c.(21757-21759)tCg>tTg	p.S7253L	SYNE1_ENST00000423061.1_Missense_Mutation_p.S7182L|SYNE1_ENST00000356820.4_Missense_Mutation_p.S1777L|SYNE1_ENST00000341594.5_Missense_Mutation_p.S6865L|SYNE1_ENST00000265368.4_Missense_Mutation_p.S7253L|SYNE1_ENST00000448038.1_Missense_Mutation_p.S7182L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7253					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	p.S7253L(2)|p.S7182L(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTGAACTGTCGAAGCACACTG	0.488000										HNSCC(10;0.0054)			10	176					0	0	0.006214	0	0
MUC5B	727897	broad.mit.edu	37	11	1269244	1269244	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr11:1269244C>G	ENST00000447027.1	+	31	11201	c.11143C>G	c.(11143-11145)Ccg>Gcg	p.P3715A	MUC5B_ENST00000529681.1_Missense_Mutation_p.P3712A|RP11-532E4.2_ENST00000532061.2_RNA			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3712	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	p.P3712A(1)|p.P3691A(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CACGGCCACCCCGTCCTCCAC	0.657000													41	42					0	0	0.014410	0	0
OLFML2B	25903	broad.mit.edu	37	1	161953798	161953798	+	Silent	SNP	G	G	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr1:161953798G>T	ENST00000294794.3	-	8	2343	c.1920C>A	c.(1918-1920)ggC>ggA	p.G640G	OLFML2B_ENST00000367938.1_Silent_p.G123G|OLFML2B_ENST00000367940.2_Silent_p.G641G	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	640	Olfactomedin-like.							p.G640G(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			CCTGGCTGAAGCCCTCATCGT	0.617000													5	39					8.12818e-05	9.33992e-05	0.001984	1	0
PKD1L2	114780	broad.mit.edu	37	16	81181898	81181898	+	RNA	SNP	G	G	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr16:81181898G>A	ENST00000533478.1	-	0	2873				PKD1L2_ENST00000525539.1_RNA	NM_001278425.1	NP_001265354.1	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	p.P1606P(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GGAGGTTGATGGGGAACATGA	0.552000													11	45					0	0	0.008291	0	0
SASH1	23328	broad.mit.edu	37	6	148840928	148840928	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr6:148840928G>T	ENST00000367467.3	+	10	1583	c.1108G>T	c.(1108-1110)Ggg>Tgg	p.G370W		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	370							protein binding	p.G370W(1)		breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		CAAGAAGATGGGGACATTCTT	0.592000													20	26					1.00905e-13	1.55902e-13	0.008871	1	0
NAA38	51691	broad.mit.edu	37	7	117828412	117828412	+	Silent	SNP	G	G	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr7:117828412G>T	ENST00000424702.1	+	3	233	c.153G>T	c.(151-153)ggG>ggT	p.G51G	NAA38_ENST00000249299.2_Silent_p.G51G|NAA38_ENST00000422760.1_Silent_p.G30G			O95777	NAA38_HUMAN	N(alpha)-acetyltransferase 38, NatC auxiliary subunit	51					nuclear mRNA splicing, via spliceosome	nucleus|ribonucleoprotein complex	protein binding|U6 snRNA binding	p.G51G(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	8						CTTCACAGGGGGTAGAACAAG	0.348000													56	50					1.00798e-23	1.76848e-23	0.014410	1	0
TRBV2	28620	broad.mit.edu	37	7	142001010	142001010	+	RNA	SNP	G	G	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr7:142001010G>A	ENST00000455382.2	+	0	176																											TCACACAGATGGGACAGGAAG	0.443000													25	21					0	0	0.002780	0	0
FBN3	84467	broad.mit.edu	37	19	8131064	8131064	+	Silent	SNP	G	G	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr19:8131064G>A	ENST00000600128.1	-	64	8583	c.8169C>T	c.(8167-8169)atC>atT	p.I2723I	FBN3_ENST00000270509.2_Silent_p.I2723I|FBN3_ENST00000601739.1_Silent_p.I2723I			Q75N90	FBN3_HUMAN	fibrillin 3	2723						proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	p.I2723I(1)		NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GGAGCTCCAGGATGCGCTCGG	0.652000													10	12					0	0	0.010729	0	0
GATA3	2625	broad.mit.edu	37	10	8100557	8100557	+	Silent	SNP	G	G	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr10:8100557G>A	ENST00000379328.3	+	3	1099	c.531G>A	c.(529-531)cgG>cgA	p.R177R	GATA3_ENST00000461472.1_3'UTR|GATA3_ENST00000346208.3_Silent_p.R177R	NM_001002295.1|NM_002051.2	NP_001002295.1|NP_002042.1	P23771	GATA3_HUMAN	GATA binding protein 3	177					aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding	p.R177R(1)		NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						GCTCGGCCCGGCAGGACGAGA	0.701000			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""						3	42					0	0	0.004672	0	0
MED14	9282	broad.mit.edu	37	X	40572200	40572200	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chrX:40572200C>A	ENST00000324817.1	-	6	865	c.747G>T	c.(745-747)aaG>aaT	p.K249N		NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	249	Interaction with STAT2.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	p.K249N(1)		NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GAATTTCTAGCTTGAGAAGAC	0.358000													7	17					5.18039e-06	6.22373e-06	0.003080	1	0
LY9	4063	broad.mit.edu	37	1	160784336	160784336	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr1:160784336C>A	ENST00000263285.5	+	4	887	c.857C>A	c.(856-858)aCa>aAa	p.T286K	LY9_ENST00000471816.1_3'UTR|LY9_ENST00000368035.1_5'UTR|LY9_ENST00000368041.2_Missense_Mutation_p.T246K|LY9_ENST00000368040.1_5'UTR|LY9_ENST00000341032.4_Missense_Mutation_p.T286K	NM_001261456.1|NM_002348.3	NP_001248385.1|NP_002339.2	Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	286	Ig-like V-type 2.				cell adhesion|immunoglobulin mediated immune response	integral to membrane		p.T286K(1)		autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			TTGTTTAACACATCCATCATT	0.552000													28	56					3.73148e-12	5.44637e-12	0.007291	1	0
ALK	238	broad.mit.edu	37	2	29498359	29498359	+	Silent	SNP	G	G	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr2:29498359G>A	ENST00000389048.3	-	10	2727	c.1821C>T	c.(1819-1821)ttC>ttT	p.F607F	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	607	MAM 2.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.F607F(1)	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	TCTGCAGCCAGAACCTGTACA	0.527000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				26	47					0	0	0.006320	0	0
ST8SIA5	29906	broad.mit.edu	37	18	44266155	44266155	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr18:44266155C>G	ENST00000315087.7	-	5	1211	c.551G>C	c.(550-552)aGc>aCc	p.S184T	ST8SIA5_ENST00000536490.1_Missense_Mutation_p.S153T|ST8SIA5_ENST00000590497.1_5'UTR|ST8SIA5_ENST00000538168.1_Missense_Mutation_p.S220T	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	184					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane		p.S184T(1)		kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						GAAGTCGGCGCTGTTGATCTC	0.577000													11	20					0	0	0.013537	0	0
ARMCX5	64860	broad.mit.edu	37	X	101857749	101857749	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chrX:101857749C>A	ENST00000604957.1	+	1	3302	c.680C>A	c.(679-681)gCc>gAc	p.A227D	ARMCX5_ENST00000536530.1_Missense_Mutation_p.A227D|RP4-769N13.6_ENST00000476910.1_RNA|ARMCX5_ENST00000246174.2_Missense_Mutation_p.A227D|ARMCX5_ENST00000541409.1_Missense_Mutation_p.A227D|RP4-769N13.7_ENST00000602441.1_RNA|ARMCX5_ENST00000537008.1_Missense_Mutation_p.A227D|ARMCX5_ENST00000372742.1_Missense_Mutation_p.A227D	NM_001168478.1	NP_001161950.1	Q6P1M9	ARMX5_HUMAN	armadillo repeat containing, X-linked 5	227							binding	p.A227D(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	22						TGGTCAAGGGCCAGGTATATT	0.473000													9	120					2.17888e-05	2.54202e-05	0.006214	1	0
ESYT1	23344	broad.mit.edu	37	12	56531347	56531347	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr12:56531347G>A	ENST00000394048.5	+	18	2267	c.2003G>A	c.(2002-2004)gGa>gAa	p.G668E	ESYT1_ENST00000267113.4_Missense_Mutation_p.G678E|ESYT1_ENST00000541590.1_Missense_Mutation_p.G678E	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	668	C2 3.					integral to membrane		p.G668E(1)		breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						TTCTTGGGGGGACTGGTGAAG	0.547000													24	194					0	0	0.003330	0	0
FUNDC2	65991	broad.mit.edu	37	X	154261737	154261737	+	Missense_Mutation	SNP	T	T	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chrX:154261737T>A	ENST00000369498.3	+	2	447	c.193T>A	c.(193-195)Tgg>Agg	p.W65R	FUNDC2_ENST00000484175.1_3'UTR	NM_023934.3	NP_076423.2	Q9BWH2	FUND2_HUMAN	FUN14 domain containing 2	65						mitochondrion		p.W65R(1)		breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	13	all_cancers(53;3.51e-17)|all_epithelial(53;5.13e-11)|all_lung(58;3.84e-07)|Lung NSC(58;1.2e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GAAGCAGCCATGGTGGCGTAA	0.428000													6	165					0	0	0.001984	0	0
VPS13D	55187	broad.mit.edu	37	1	12337880	12337880	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr1:12337880C>A	ENST00000358136.3	+	19	4365	c.4235C>A	c.(4234-4236)gCg>gAg	p.A1412E	VPS13D_ENST00000356315.4_Missense_Mutation_p.A1412E	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	1412					protein localization			p.A1412E(1)		NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		AATTTTGTGGCGGGAGATGAT	0.458000													3	80					0.00909568	0.00976469	0.009096	1	0
OR2T3	343173	broad.mit.edu	37	1	248636972	248636972	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr1:248636972C>G	ENST00000359594.2	+	1	346	c.321C>G	c.(319-321)ttC>ttG	p.F107L		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	107					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F107L(1)		breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	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)			TCCAGATGTTCTTCTACCTGA	0.542000													45	63					0	0	0.014410	0	0
STAG2	10735	broad.mit.edu	37	X	123210221	123210221	+	Missense_Mutation	SNP	T	T	C			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chrX:123210221T>C	ENST00000371160.1	+	26	2863	c.2573T>C	c.(2572-2574)cTg>cCg	p.L858P	STAG2_ENST00000371144.3_Missense_Mutation_p.L858P|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000354548.5_Missense_Mutation_p.L789P|STAG2_ENST00000371157.3_Missense_Mutation_p.L858P|STAG2_ENST00000218089.9_Missense_Mutation_p.L858P|STAG2_ENST00000371145.3_Missense_Mutation_p.L858P			Q8N3U4	STAG2_HUMAN	stromal antigen 2	858					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.L858P(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						ATTGAAGCTCTGCACAAGAGA	0.343000													12	152					0	0	0.013537	0	0
KCNT2	343450	broad.mit.edu	37	1	196274434	196274434	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr1:196274434G>T	ENST00000367433.5	-	21	2554	c.2453C>A	c.(2452-2454)cCc>cAc	p.P818H	KCNT2_ENST00000294725.8_Missense_Mutation_p.P842H|KCNT2_ENST00000451324.2_Intron|KCNT2_ENST00000367431.4_Missense_Mutation_p.P768H|KCNT2_ENST00000498426.1_5'UTR			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	842						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	p.P842H(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						CATGTTGGCGGGGTGAGTTAG	0.358000													26	35					1.2476e-16	2.04749e-16	0.006320	1	0
FAT4	79633	broad.mit.edu	37	4	126336245	126336245	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr4:126336245G>T	ENST00000394329.3	+	5	6140	c.6127G>T	c.(6127-6129)Gat>Tat	p.D2043Y	FAT4_ENST00000335110.5_Missense_Mutation_p.D341Y	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2043	Cadherin 19.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D2043Y(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TATTTTGTTGGATGTAAATGA	0.403000													41	139					2.26627e-22	3.90619e-22	0.007835	1	0
TM9SF4	9777	broad.mit.edu	37	20	30730905	30730905	+	Nonsense_Mutation	SNP	G	G	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr20:30730905G>T	ENST00000217315.5	+	6	938	c.598G>T	c.(598-600)Gag>Tag	p.E200*	TM9SF4_ENST00000398022.2_Nonsense_Mutation_p.E217*			Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	217						integral to membrane		p.E200*(1)		central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CATCAGGCTGGAGGGTGAGTG	0.617000													11	44					3.07112e-06	3.72883e-06	0.010729	1	0
POU3F4	5456	broad.mit.edu	37	X	82763897	82763897	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chrX:82763897C>A	ENST00000373200.2	+	1	629	c.565C>A	c.(565-567)Cca>Aca	p.P189T	RP3-326L13.2_ENST00000607095.1_RNA	NM_000307.3	NP_000298.2	P49335	PO3F4_HUMAN	POU class 3 homeobox 4	189	POU-specific.				sensory perception of sound	nucleus	sequence-specific DNA binding transcription factor activity	p.P189T(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	37						CGAGGAGACGCCAACCTCTGA	0.602000													22	13					3.62473e-10	5.04374e-10	0.012319	1	0
TIMMDC1	51300	broad.mit.edu	37	3	119236107	119236107	+	Nonsense_Mutation	SNP	C	C	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr3:119236107C>T	ENST00000494664.1	+	6	854	c.652C>T	c.(652-654)Cag>Tag	p.Q218*	TIMMDC1_ENST00000493694.1_Nonsense_Mutation_p.Q84*	NM_016589.3	NP_057673.2	Q9NPL8	TIDC1_HUMAN	translocase of inner mitochondrial membrane domain containing 1	218						integral to membrane|mitochondrial inner membrane	protein transporter activity	p.Q218*(1)		autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	15						TGAGACTGTTCAGGAAAGAAA	0.478000													81	58					0	0	0.014410	0	0
SRPK3	26576	broad.mit.edu	37	X	153048509	153048509	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chrX:153048509G>T	ENST00000489426.1	+	13	3251	c.885G>T	c.(883-885)agG>agT	p.R295S	SRPK3_ENST00000393786.3_Missense_Mutation_p.R228S|SRPK3_ENST00000370108.3_Missense_Mutation_p.R228S|SRPK3_ENST00000370104.1_Missense_Mutation_p.R228S|SRPK3_ENST00000370101.3_Missense_Mutation_p.R228S|SRPK3_ENST00000370100.1_Missense_Mutation_p.R186S			Q9UPE1	SRPK3_HUMAN	SRSF protein kinase 3	228	Protein kinase.				cell differentiation|muscle organ development|muscle tissue development		ATP binding|protein serine/threonine kinase activity	p.R228S(1)|p.R295S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(2)|pancreas(2)|urinary_tract(1)	13	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CTTACATCAGGCGCCTGGCTG	0.657000													4	127					8.12818e-05	9.33992e-05	0.001984	1	0
FOSL1	8061	broad.mit.edu	37	11	65664372	65664372	+	Missense_Mutation	SNP	T	T	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr11:65664372T>A	ENST00000312562.2	-	2	391	c.205A>T	c.(205-207)Acc>Tcc	p.T69S	FOSL1_ENST00000531493.1_Missense_Mutation_p.T69S|FOSL1_ENST00000532401.1_Missense_Mutation_p.T69S|FOSL1_ENST00000448083.2_Intron	NM_005438.3	NP_005429.1	P15407	FOSL1_HUMAN	FOS-like antigen 1	69					cellular defense response|chemotaxis|positive regulation of cell proliferation|response to virus|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.T69S(1)		breast(1)|endometrium(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	10				READ - Rectum adenocarcinoma(159;0.168)		TGAGGGTAGGTCAGAGGCCTG	0.632000													24	50					0	0	0.014323	0	0
PMFBP1	83449	broad.mit.edu	37	16	72163128	72163128	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr16:72163128C>A	ENST00000537465.1	-	13	1960	c.1802G>T	c.(1801-1803)aGg>aTg	p.R601M	PMFBP1_ENST00000237353.10_Missense_Mutation_p.R596M|PMFBP1_ENST00000355636.6_Missense_Mutation_p.R451M			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	601								p.R596M(1)		NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				GCCTTGCTCCCTGTGCTGAAA	0.433000													39	239					1.67305e-13	2.55615e-13	0.006230	1	0
NCAPD3	23310	broad.mit.edu	37	11	134086941	134086941	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr11:134086941C>A	ENST00000534548.2	-	3	335	c.271G>T	c.(271-273)Gca>Tca	p.A91S		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	91					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding	p.A91S(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		TAGAACAATGCCACCAGTGTA	0.403000													13	39					4.36969e-10	6.06803e-10	0.001855	1	0
RSAD2	91543	broad.mit.edu	37	2	7035912	7035912	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr2:7035912C>A	ENST00000382040.3	+	6	1061	c.925C>A	c.(925-927)Cgc>Agc	p.R309S	RSAD2_ENST00000541728.1_Missense_Mutation_p.R202S	NM_080657.4	NP_542388.2	Q8WXG1	RSAD2_HUMAN	radical S-adenosyl methionine domain containing 2	309					defense response to virus	endoplasmic reticulum membrane|Golgi apparatus	catalytic activity|iron-sulfur cluster binding|metal ion binding	p.R309S(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)	20	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			OV - Ovarian serous cystadenocarcinoma(76;0.191)		TTTCTAGATGCGCTTTCTGAA	0.368000													8	41					0.00307968	0.00336947	0.003080	1	0
ANK1	286	broad.mit.edu	37	8	41526069	41526069	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr8:41526069C>A	ENST00000396942.1	-	39	5193	c.5110G>T	c.(5110-5112)Gat>Tat	p.D1704Y	ANK1_ENST00000396945.1_Missense_Mutation_p.D1704Y|ANK1_ENST00000347528.4_Missense_Mutation_p.D1704Y|ANK1_ENST00000352337.4_Missense_Mutation_p.D1704Y|ANK1_ENST00000379758.2_Missense_Mutation_p.D1704Y|ANK1_ENST00000265709.8_Missense_Mutation_p.D1745Y|ANK1_ENST00000289734.7_Missense_Mutation_p.D1704Y			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1704	55 kDa regulatory domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	p.D1745Y(1)|p.D1704Y(1)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CCGTCTGCATCCCAGTCCTGC	0.547000													16	60					1.15088e-07	1.48963e-07	0.004007	1	0
POU3F4	5456	broad.mit.edu	37	X	82763626	82763626	+	Silent	SNP	G	G	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chrX:82763626G>A	ENST00000373200.2	+	1	358	c.294G>A	c.(292-294)tcG>tcA	p.S98S	RP3-326L13.2_ENST00000607095.1_RNA	NM_000307.3	NP_000298.2	P49335	PO3F4_HUMAN	POU class 3 homeobox 4	98					sensory perception of sound	nucleus	sequence-specific DNA binding transcription factor activity	p.S98S(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	37						ATCACCGCTCGCCACACGTAG	0.672000													7	11					0	0	0.001984	0	0
PLXNA3	55558	broad.mit.edu	37	X	153694838	153694838	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chrX:153694838C>A	ENST00000369682.3	+	16	3094	c.2919C>A	c.(2917-2919)agC>agA	p.S973R		NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN	plexin A3	973	IPT/TIG 2.				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	p.S973R(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGAGGGACAGCGAGTGCCAGT	0.692000													10	119					0.000442599	0.000496928	0.006214	1	0
HERC5	51191	broad.mit.edu	37	4	89414161	89414161	+	Splice_Site	SNP	A	A	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr4:89414161A>T	ENST00000264350.3	+	17	2286		c.e17-1		HERC5_ENST00000508159.1_Splice_Site	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5						innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity	p.?(1)		NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		CTGTTTCCTCAGGTTTCATTT	0.388000													13	86					0	0	0.002450	0	0
HOXA3	3200	broad.mit.edu	37	7	27147727	27147727	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr7:27147727G>T	ENST00000396352.4	-	3	1338	c.1139C>A	c.(1138-1140)cCa>cAa	p.P380Q	HOXA3_ENST00000317201.2_Missense_Mutation_p.P380Q|HOXA-AS2_ENST00000518088.1_RNA	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3	380					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P380Q(1)		breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						AAAGAGGGCTGGCCCGGAGTT	0.692000													9	17					0.000274275	0.000308954	0.004482	1	0
CAPZA3	93661	broad.mit.edu	37	12	18891415	18891415	+	Silent	SNP	C	C	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr12:18891415C>A	ENST00000317658.3	+	1	371	c.213C>A	c.(211-213)ctC>ctA	p.L71L		NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3	71					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding	p.L71L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				ATCCAGTACTCTTGTCTCACC	0.428000													49	92					4.18559e-23	7.32478e-23	0.014410	1	0
PPEF1	5475	broad.mit.edu	37	X	18822086	18822086	+	Missense_Mutation	SNP	A	A	G			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chrX:18822086A>G	ENST00000361511.4	+	14	1636	c.1142A>G	c.(1141-1143)tAt>tGt	p.Y381C	PPEF1_ENST00000544635.1_Missense_Mutation_p.Y316C|PPEF1_ENST00000543630.1_Intron|PPEF1_ENST00000359763.6_Missense_Mutation_p.Y328C|PPEF1_ENST00000349874.5_Intron	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN	protein phosphatase, EF-hand calcium binding domain 1	381	Catalytic.				detection of stimulus involved in sensory perception|protein dephosphorylation		calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity	p.Y381C(1)		breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					GGGGGCTGCTATTTTGGACCA	0.418000													39	68					0	0	0.006999	0	0
RPE65	6121	broad.mit.edu	37	1	68910296	68910296	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr1:68910296G>T	ENST00000262340.5	-	5	466	c.413C>A	c.(412-414)cCa>cAa	p.P138Q		NM_000329.2	NP_000320.1	Q16518	RPE65_HUMAN	retinal pigment epithelium-specific protein 65kDa	138					visual perception	cytoplasm|plasma membrane	all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity	p.P138Q(1)		central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						TTCCCCCACTGGGTAGACATT	0.403000													25	57					5.45024e-15	8.7153e-15	0.003330	1	0
IGKV1D-17	28900	broad.mit.edu	37	2	90121685	90121685	+	RNA	SNP	C	C	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr2:90121685C>T	ENST00000483379.1	+	0	209																											TGCTCAGCTCCTGGGGCTCCT	0.527000													11	89					0	0	0.004007	0	0
DCAF12L2	340578	broad.mit.edu	37	X	125299761	125299761	+	Silent	SNP	G	G	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chrX:125299761G>A	ENST00000538699.1	-	2	227	c.147C>T	c.(145-147)cgC>cgT	p.R49R	DCAF12L2_ENST00000360028.2_Silent_p.R49R	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	49								p.R49R(2)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						GCACCAGCCTGCGACGCGTCG	0.726000													26	27					0	0	0.006320	0	0
GRIK2	2898	broad.mit.edu	37	6	102074265	102074265	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr6:102074265G>T	ENST00000369138.1	+	3	784	c.294G>T	c.(292-294)caG>caT	p.Q98H	GRIK2_ENST00000413795.1_Missense_Mutation_p.Q98H|GRIK2_ENST00000369134.4_Missense_Mutation_p.Q49H|GRIK2_ENST00000358361.3_Missense_Mutation_p.Q98H|GRIK2_ENST00000369137.3_Missense_Mutation_p.Q98H|GRIK2_ENST00000421544.1_Missense_Mutation_p.Q98H|GRIK2_ENST00000318991.6_Missense_Mutation_p.Q98H	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	98					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.Q98H(2)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	CCTGTGATCAGCTGTCTCTTG	0.488000													106	250					3.29639e-60	6.26405e-60	0.014410	1	0
GBP4	115361	broad.mit.edu	37	1	89651052	89651052	+	Missense_Mutation	SNP	T	T	C			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr1:89651052T>C	ENST00000355754.6	-	11	1905	c.1808A>G	c.(1807-1809)gAa>gGa	p.E603G	GBP4_ENST00000471938.1_5'UTR	NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	603						cytoplasm	GTP binding|GTPase activity	p.E603G(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33				all cancers(265;0.00723)|Epithelial(280;0.0291)		CCTTAACTGTTCATTTTTAGT	0.343000													13	47					0	0	0.013537	0	0
KIAA1324L	222223	broad.mit.edu	37	7	86544146	86544146	+	Nonsense_Mutation	SNP	C	C	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr7:86544146C>A	ENST00000450689.2	-	13	1809	c.1624G>T	c.(1624-1626)Gaa>Taa	p.E542*	KIAA1324L_ENST00000297222.6_Nonsense_Mutation_p.E302*|KIAA1324L_ENST00000490995.1_5'UTR|KIAA1324L_ENST00000416314.1_Nonsense_Mutation_p.E375*|KIAA1324L_ENST00000444627.1_Nonsense_Mutation_p.E542*	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	542						integral to membrane		p.E302*(1)|p.E542*(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					CCCCACGATTCTACCACATTT	0.323000													7	58					0.00198382	0.00218093	0.001984	1	0
CALN1	83698	broad.mit.edu	37	7	71743772	71743772	+	Missense_Mutation	SNP	A	A	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr7:71743772A>T	ENST00000395275.2	-	3	531	c.143T>A	c.(142-144)gTg>gAg	p.V48E	CALN1_ENST00000405452.2_Missense_Mutation_p.V6E|CALN1_ENST00000395276.2_Missense_Mutation_p.V6E|CALN1_ENST00000412588.1_Missense_Mutation_p.V48E|CALN1_ENST00000329008.5_Missense_Mutation_p.V6E|CALN1_ENST00000431984.1_Missense_Mutation_p.V6E	NM_031468.3	NP_113656.2	Q9BXU9	CABP8_HUMAN	calneuron 1	6	EF-hand 1.					Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding	p.V48E(1)|p.V6E(1)		biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				GCCGGCGGTCACATGGTGGAA	0.507000													22	17					0	0	0.010504	0	0
CLNK	116449	broad.mit.edu	37	4	10566338	10566338	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr4:10566338G>C	ENST00000226951.6	-	7	595	c.356C>G	c.(355-357)tCc>tGc	p.S119C	CLNK_ENST00000507719.1_Missense_Mutation_p.S77C|CLNK_ENST00000442825.2_Missense_Mutation_p.S77C	NM_052964.2	NP_443196.2	Q7Z7G1	CLNK_HUMAN	cytokine-dependent hematopoietic cell linker	119					immune response|intracellular signal transduction	intracellular	SH3/SH2 adaptor activity	p.S119C(2)		NS(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)	17						CTGTCCAATGGAGATAGAGGT	0.453000													6	21					0	0	0.001168	0	0
XPNPEP2	7512	broad.mit.edu	37	X	128881584	128881584	+	Splice_Site	SNP	C	C	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chrX:128881584C>A	ENST00000371106.3	+	7	684	c.490_splice	c.e7-1	p.D164_splice		NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound	164					cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity	p.D164E(1)		endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						TCTCTGCAGACACCTGGGAGA	0.512000													47	47					7.88023e-25	1.40411e-24	0.014410	1	0
GABRE	2564	broad.mit.edu	37	X	151123293	151123293	+	Silent	SNP	G	G	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chrX:151123293G>A	ENST00000370328.3	-	9	1454	c.1401C>T	c.(1399-1401)acC>acT	p.T467T	GABRE_ENST00000483564.1_5'UTR|GABRE_ENST00000370325.1_3'UTR	NM_004961.3	NP_004952.2	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	467					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.T354T(1)|p.T467T(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					CCTGCTGCCAGGTACTGCCCT	0.552000													6	67					0	0	0.001984	0	0
MS4A14	84689	broad.mit.edu	37	11	60183058	60183058	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr11:60183058C>A	ENST00000300187.6	+	5	894	c.617C>A	c.(616-618)gCt>gAt	p.A206D	MS4A14_ENST00000395001.1_3'UTR|MS4A14_ENST00000531783.1_Missense_Mutation_p.A239D|MS4A14_ENST00000531787.1_Missense_Mutation_p.A94D|MS4A14_ENST00000395005.2_Missense_Mutation_p.A189D	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	206						integral to membrane	receptor activity	p.A206D(1)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						GGAGGCTATGCTTTCTTCAAG	0.383000													23	38					2.32416e-17	3.86046e-17	0.014323	1	0
NLRP3	114548	broad.mit.edu	37	1	247588625	247588625	+	Missense_Mutation	SNP	A	A	G	rs104895385		TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr1:247588625A>G	ENST00000366497.2	+	4	2660	c.1880A>G	c.(1879-1881)cAg>cGg	p.Q627R	NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000348069.2_Missense_Mutation_p.Q627R|NLRP3_ENST00000366496.2_Missense_Mutation_p.Q627R|NLRP3_ENST00000391827.2_Missense_Mutation_p.Q627R|NLRP3_ENST00000336119.3_Missense_Mutation_p.Q627R|NLRP3_ENST00000391828.3_Missense_Mutation_p.Q627R	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	627					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.Q627R(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)			CAGCCCAGCCAGCTGGAATTG	0.463000													21	35					0	0	0.012319	0	0
C16orf11	146325	broad.mit.edu	37	16	613968	613968	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr16:613968C>A	ENST00000409413.3	+	2	953	c.674C>A	c.(673-675)cCc>cAc	p.P225H		NM_145270.2	NP_660313.1	P0CG20	CP011_HUMAN	chromosome 16 open reading frame 11	225	Pro-rich.							p.P225H(1)		central_nervous_system(1)|endometrium(1)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10						TACTTGGGGCCCTCACTGGCC	0.731000													3	3					0.004672	0.00506318	0.004672	1	0
FAM183A	440585	broad.mit.edu	37	1	43616454	43616454	+	Silent	SNP	C	C	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr1:43616454C>T	ENST00000410048.1	+	2	168	c.72C>T	c.(70-72)ccC>ccT	p.P24P	FAM183A_ENST00000409337.1_3'UTR|FAM183A_ENST00000335282.4_Silent_p.P52P			A6NL82	F183A_HUMAN	family with sequence similarity 183, member A	52								p.P52P(3)		kidney(1)|large_intestine(1)|lung(2)|ovary(3)	7						CCAGGAAGCCCATGTCTTGGC	0.468000													6	16					0	0	0.001168	0	0
AIM1	202	broad.mit.edu	37	6	106968029	106968029	+	Missense_Mutation	SNP	A	A	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr6:106968029A>T	ENST00000369066.3	+	2	2209	c.1722A>T	c.(1720-1722)agA>agT	p.R574S		NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	574							sugar binding	p.R574S(1)		breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		CTGAAGTTAGAGAAGTGCAGT	0.542000													20	42					0	0	0.007413	0	0
AKR1CL1	340811	broad.mit.edu	37	10	5203880	5203880	+	Missense_Mutation	SNP	A	A	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr10:5203880A>T	ENST00000334314.3	-	3	393	c.317T>A	c.(316-318)cTg>cAg	p.L106Q						aldo-keto reductase family 1, member C-like 1									p.L106Q(1)		cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6						AAGTTTCTTCAGTGACCTTTC	0.403000													10	16					0	0	0.006214	0	0
MUC17	140453	broad.mit.edu	37	7	100683533	100683533	+	Missense_Mutation	SNP	A	A	G			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr7:100683533A>G	ENST00000306151.4	+	3	8900	c.8836A>G	c.(8836-8838)Agc>Ggc	p.S2946G		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2946	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.S2946G(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TTCTGAGGCTAGCACCCTTTC	0.493000													73	1224					0	0	0.011902	0	0
UNC13A	23025	broad.mit.edu	37	19	17752261	17752261	+	Silent	SNP	C	C	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr19:17752261C>T	ENST00000428389.2	-	22	2840	c.2841G>A	c.(2839-2841)caG>caA	p.Q947Q	UNC13A_ENST00000252773.7_Silent_p.Q859Q|UNC13A_ENST00000550896.1_Silent_p.Q857Q|UNC13A_ENST00000519716.2_Silent_p.Q859Q|UNC13A_ENST00000552293.1_Silent_p.Q859Q|UNC13A_ENST00000551649.1_Silent_p.Q859Q			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	859					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	p.Q859Q(1)|p.Q947Q(1)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						CCACAATCTCCTGGGCTGTCT	0.562000													19	20					0	0	0.007413	0	0
COL12A1	1303	broad.mit.edu	37	6	75875291	75875291	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr6:75875291C>A	ENST00000322507.8	-	14	3224	c.2915G>T	c.(2914-2916)aGa>aTa	p.R972I	COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000483888.2_Missense_Mutation_p.R972I|COL12A1_ENST00000416123.2_Missense_Mutation_p.R972I	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	972	Fibronectin type-III 6.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	p.R972I(1)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TACTGAAATTCTGTATTTGGT	0.408000													44	119					1.23713e-20	2.09548e-20	0.014410	1	0
OR13F1	138805	broad.mit.edu	37	9	107266855	107266855	+	Silent	SNP	C	C	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr9:107266855C>T	ENST00000334726.2	+	1	401	c.312C>T	c.(310-312)tcC>tcT	p.S104S		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	104					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S104S(1)		endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						TGTACCTCTCCCTTGCCATGG	0.517000													24	52					0	0	0.014323	0	0
LAMB1	3912	broad.mit.edu	37	7	107596050	107596050	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr7:107596050G>T	ENST00000393561.1	-	19	2972	c.2788C>A	c.(2788-2790)Ccc>Acc	p.P930T	LAMB1_ENST00000222399.6_Missense_Mutation_p.P906T			P07942	LAMB1_HUMAN	laminin, beta 1	906	Laminin EGF-like 9.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	p.P906T(1)		NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCAATGATGGGGTCGCCATAG	0.537000													30	50					5.45727e-16	8.89237e-16	0.008361	1	0
SASH1	23328	broad.mit.edu	37	6	148761494	148761494	+	Splice_Site	SNP	G	G	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr6:148761494G>T	ENST00000367467.3	+	4	812	c.336_splice	c.e4-1	p.E113_splice	SASH1_ENST00000470750.1_3'UTR|SASH1_ENST00000367469.1_Splice_Site_p.E68_splice	NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	113							protein binding	p.E113K(1)|p.E113*(1)		breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		TCTCTCGTAGGAGTCGCTTGG	0.463000													25	77					5.77227e-19	9.68161e-19	0.008361	1	0
IGSF1	3547	broad.mit.edu	37	X	130416645	130416645	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chrX:130416645C>A	ENST00000370904.1	-	13	1902	c.992G>T	c.(991-993)aGc>aTc	p.S331I	IGSF1_ENST00000361420.3_Missense_Mutation_p.S340I|IGSF1_ENST00000370903.3_Missense_Mutation_p.S340I|IGSF1_ENST00000370910.1_Missense_Mutation_p.S331I			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	340	Ig-like C2-type 4.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding	p.S340I(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						ACACCGTAGGCTCACATTCTG	0.498000													8	109					5.18039e-06	6.22373e-06	0.003080	1	0
MMP9	4318	broad.mit.edu	37	20	44639949	44639949	+	Missense_Mutation	SNP	A	A	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr20:44639949A>T	ENST00000372330.3	+	5	836	c.817A>T	c.(817-819)Agc>Tgc	p.S273C		NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	273	Fibronectin type-II 1.				collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding	p.S273C(1)		breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	CTTCTGCCCCAGCGAGAGTGA	0.652000													22	57					0	0	0.002780	0	0
NLGN4X	57502	broad.mit.edu	37	X	5811275	5811275	+	Silent	SNP	G	G	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chrX:5811275G>T	ENST00000381095.3	-	6	2661	c.2034C>A	c.(2032-2034)acC>acA	p.T678T	NLGN4X_ENST00000538097.1_Silent_p.T678T|NLGN4X_ENST00000381093.2_Silent_p.T698T|NLGN4X_ENST00000275857.6_Silent_p.T678T|NLGN4X_ENST00000381092.1_Silent_p.T678T	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	678					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.T678T(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						CGACGGCAATGGTGACACTTA	0.512000													46	119					1.81118e-26	3.24405e-26	0.014410	1	0
SDK1	221935	broad.mit.edu	37	7	4169723	4169723	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr7:4169723G>A	ENST00000404826.2	+	27	4262	c.4123G>A	c.(4123-4125)Gac>Aac	p.D1375N	SDK1_ENST00000389531.3_Missense_Mutation_p.D1375N	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1375					cell adhesion	integral to membrane		p.D1375N(1)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GCGCACCAAAGACGATGGTAG	0.587000													6	36					0	0	0.001168	0	0
TRAM1	23471	broad.mit.edu	37	8	71495976	71495976	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr8:71495976G>A	ENST00000521425.1	-	9	1577	c.541C>T	c.(541-543)Ctt>Ttt	p.L181F	TRAM1_ENST00000262213.2_Missense_Mutation_p.L267F|TRAM1_ENST00000521049.1_5'UTR|TRAM1_ENST00000536748.1_Missense_Mutation_p.L236F			Q15629	TRAM1_HUMAN	translocation associated membrane protein 1	267	TLC.				cotranslational protein targeting to membrane|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity	p.L267F(1)		endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	17			Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)			AGTACTGAAAGAATTAAAGTC	0.388000													46	104					0	0	0.014410	0	0
MYH13	8735	broad.mit.edu	37	17	10222405	10222405	+	Missense_Mutation	SNP	A	A	G			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr17:10222405A>G	ENST00000418404.3	-	26	3603	c.3440T>C	c.(3439-3441)cTg>cCg	p.L1147P	MYH13_ENST00000252172.4_Missense_Mutation_p.L1147P|MYH13_ENST00000570743.1_Missense_Mutation_p.L1147P			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1147					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	p.L1147P(2)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GATCTCCTCCAGTTCCCTGGC	0.552000													54	80					0	0	0.014410	0	0
LEPR	3953	broad.mit.edu	37	1	66070859	66070859	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr1:66070859G>T	ENST00000349533.6	+	11	1727	c.1542G>T	c.(1540-1542)agG>agT	p.R514S	LEPR_ENST00000371059.3_Missense_Mutation_p.R514S|LEPR_ENST00000371058.1_Missense_Mutation_p.R514S|LEPR_ENST00000371060.3_Missense_Mutation_p.R514S|LEPR_ENST00000462765.1_3'UTR|LEPR_ENST00000344610.8_Missense_Mutation_p.R514S|LEPR_ENST00000406510.3_Intron	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	514					energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity	p.R514S(3)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		TGTGGATTAGGATCAATCACT	0.423000													37	99					9.45814e-24	1.66366e-23	0.004878	1	0
KDM5B	10765	broad.mit.edu	37	1	202702652	202702652	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr1:202702652C>A	ENST00000367265.3	-	23	4950	c.3786G>T	c.(3784-3786)tgG>tgT	p.W1262C	KDM5B_ENST00000367264.2_Missense_Mutation_p.W1298C	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	1262					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	p.W1262C(1)		breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						CTCTGTGCTGCCAGTTCACGG	0.502000													18	107					4.96729e-08	6.50298e-08	0.008871	1	0
IGLJ2	28832	broad.mit.edu	37	22	23241833	23241833	+	RNA	SNP	T	T	C			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr22:23241833T>C	ENST00000390322.2	+	0	173																											CTGACCGTCCTAGGTGAGTCT	0.547000													10	144					0	0	0.003163	0	0
ACTL7B	10880	broad.mit.edu	37	9	111617550	111617550	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr9:111617550G>T	ENST00000374667.3	-	1	1689	c.661C>A	c.(661-663)Cgc>Agc	p.R221S		NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN	actin-like 7B	221						actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton	p.R221S(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						TAGTCGGCGCGGCTGGTCAGG	0.662000													14	43					4.3838e-07	5.56905e-07	0.001855	1	0
BCLAF1	9774	broad.mit.edu	37	6	136599790	136599790	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr6:136599790C>A	ENST00000531224.1	-	4	481	c.229G>T	c.(229-231)Ggt>Tgt	p.G77C	BCLAF1_ENST00000527759.1_Missense_Mutation_p.G75C|BCLAF1_ENST00000530767.1_Missense_Mutation_p.G77C|BCLAF1_ENST00000527536.1_Missense_Mutation_p.G77C|BCLAF1_ENST00000353331.4_Missense_Mutation_p.G75C|BCLAF1_ENST00000392348.2_Missense_Mutation_p.G75C	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	77					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	p.G77C(1)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TACCCTCTACCCCTTCCTCTG	0.448000													15	130					7.41877e-09	1.00978e-08	0.012319	1	0
TSSC2	650368	broad.mit.edu	37	11	3427765	3427765	+	RNA	SNP	G	G	C			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr11:3427765G>C	ENST00000529482.1	+	0	882																											CACACGTCCTGCAGTGGCCTG	0.602000													3	46					0	0	0.009096	0	0
PTPRC	5788	broad.mit.edu	37	1	198668779	198668779	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr1:198668779G>T	ENST00000367376.2	+	5	550	c.379G>T	c.(379-381)Ggc>Tgc	p.G127C	PTPRC_ENST00000348564.6_Intron|PTPRC_ENST00000352140.3_Missense_Mutation_p.G127C|PTPRC_ENST00000594404.1_Intron|PTPRC_ENST00000391970.3_3'UTR|PTPRC_ENST00000442510.2_Missense_Mutation_p.G129C	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	127					axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	p.G127C(1)		breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						GACATTCAGCGGCTCCGCCGC	0.532000											OREG0014061	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	134					1.3612e-06	1.6825e-06	0.003163	1	0
STK32B	55351	broad.mit.edu	37	4	5170126	5170126	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr4:5170126G>T	ENST00000282908.5	+	3	631	c.209G>T	c.(208-210)cGg>cTg	p.R70L	STK32B_ENST00000512636.1_Missense_Mutation_p.R23L|STK32B_ENST00000510398.1_Missense_Mutation_p.R23L	NM_018401.1	NP_060871.1	Q9NY57	ST32B_HUMAN	serine/threonine kinase 32B	70	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity	p.R70L(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	39						AATGTTTTCCGGGAGCTGCAG	0.537000													10	31					1.08611e-07	1.41112e-07	0.010729	1	0
ZNF133	7692	broad.mit.edu	37	20	18286371	18286371	+	Missense_Mutation	SNP	A	A	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr20:18286371A>T	ENST00000377671.3	+	5	600	c.41A>T	c.(40-42)gAg>gTg	p.E14V	ZNF133_ENST00000316358.4_Missense_Mutation_p.E14V|ZNF133_ENST00000402618.2_5'UTR|ZNF133_ENST00000396026.3_Missense_Mutation_p.E17V|ZNF133_ENST00000535822.1_Intron|ZNF133_ENST00000538547.1_Intron|ZNF133_ENST00000401790.1_Missense_Mutation_p.E14V	NM_001083330.1|NM_003434.4	NP_001076799.1|NP_003425.2	P52736	ZN133_HUMAN	zinc finger protein 133	14	KRAB.					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E14V(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						ACCCAGGATGAGTGGAGGCTG	0.537000													16	64					0	0	0.004007	0	0
PCLO	27445	broad.mit.edu	37	7	82538323	82538323	+	Missense_Mutation	SNP	T	T	C			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr7:82538323T>C	ENST00000423517.2	-	8	13644	c.13307A>G	c.(13306-13308)cAt>cGt	p.H4436R	PCLO_ENST00000333891.8_Missense_Mutation_p.H4436R	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4367	PDZ.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.H4436R(2)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ACGACGCAGATGATAGGCTTT	0.463000													10	91					0	0	0.008291	0	0
KIF2B	84643	broad.mit.edu	37	17	51901301	51901301	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr17:51901301G>T	ENST00000268919.4	+	1	1063	c.907G>T	c.(907-909)Ggg>Tgg	p.G303W		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	303	Kinesin-motor.				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	p.G303W(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CTTTGCCTATGGGCAGACGGG	0.552000													23	55					3.83957e-06	4.63723e-06	0.002780	1	0
SALL1	6299	broad.mit.edu	37	16	51176050	51176050	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr16:51176050G>T	ENST00000251020.4	-	2	116	c.83C>A	c.(82-84)aCa>aAa	p.T28K	SALL1_ENST00000440970.1_5'UTR|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	28					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.T28K(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			ACCCTTTTCTGTGTCTCCTAC	0.463000													40	94					6.45866e-13	9.69505e-13	0.008740	1	0
TPTE	7179	broad.mit.edu	37	21	10910328	10910328	+	Silent	SNP	C	C	G			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr21:10910328C>G	ENST00000298232.7	-	21	1741	c.1374G>C	c.(1372-1374)gtG>gtC	p.V458V	TPTE_ENST00000342420.5_Silent_p.V438V|TPTE_ENST00000361285.4_Silent_p.V476V|TPTE_ENST00000415664.2_5'UTR	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	476	C2 tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.V476V(1)|p.V458V(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ACTGCACTTTCACATCATCAT	0.343000													17	104					0	0	0.008871	0	0
GPR142	350383	broad.mit.edu	37	17	72368430	72368430	+	Silent	SNP	G	G	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr17:72368430G>T	ENST00000335666.4	+	4	1128	c.1080G>T	c.(1078-1080)ctG>ctT	p.L360L		NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	360						cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity	p.L360L(1)		central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						CCATCCTCCTGGGCATCACCA	0.667000													20	58					1.15919e-05	1.36398e-05	0.008871	1	0
CSMD2	114784	broad.mit.edu	37	1	34238194	34238194	+	Missense_Mutation	SNP	A	A	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr1:34238194A>T	ENST00000373381.4	-	13	1998	c.1822T>A	c.(1822-1824)Tcg>Acg	p.S608T	CSMD2_ENST00000338325.1_Missense_Mutation_p.S216T	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	568	CUB 4.					integral to membrane|plasma membrane	protein binding	p.S568T(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TTCTTAGCCGACCATTGGTTA	0.577000													44	67					0	0	0.014410	0	0
C8A	731	broad.mit.edu	37	1	57372457	57372457	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr1:57372457G>T	ENST00000361249.3	+	8	1310	c.1214G>T	c.(1213-1215)gGc>gTc	p.G405V		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	405	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex		p.G405V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						TTTGGAGGTGGCAAAACTGGC	0.408000													25	48					4.47668e-21	7.62035e-21	0.003954	1	0
TAF1	6872	broad.mit.edu	37	X	70627911	70627911	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chrX:70627911C>A	ENST00000449580.1	+	28	4342	c.4291C>A	c.(4291-4293)Cgc>Agc	p.R1431S	TAF1_ENST00000276072.3_Missense_Mutation_p.R1452S|TAF1_ENST00000423759.1_Missense_Mutation_p.R1452S|TAF1_ENST00000373790.4_Missense_Mutation_p.R1431S			P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1431	Bromo 1.|Interaction with ASF1A and ASF1B.|Protein kinase 2.				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity	p.R1431S(1)|p.R1452S(1)		breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				ACAAACACTCCGCGAAAACGT	0.453000													9	152					0.00621372	0.00670222	0.006214	1	0
CARNS1	57571	broad.mit.edu	37	11	67186368	67186368	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr11:67186368C>G	ENST00000445895.2	+	4	620	c.506C>G	c.(505-507)cCg>cGg	p.P169R	CARNS1_ENST00000423745.2_Missense_Mutation_p.P46R|CARNS1_ENST00000531040.1_Missense_Mutation_p.P169R|CARNS1_ENST00000307823.3_Missense_Mutation_p.P46R			A5YM72	CRNS1_HUMAN	carnosine synthase 1	46					carnosine biosynthetic process		ATP binding|carnosine synthase activity|metal ion binding	p.P169R(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)	11						TTTGTCCCCCCGCGCCGTGCC	0.687000													3	16					0	0	0.004672	0	0
C1orf109	54955	broad.mit.edu	37	1	38155361	38155361	+	Silent	SNP	C	C	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr1:38155361C>A	ENST00000358011.4	-	2	381	c.192G>T	c.(190-192)cgG>cgT	p.R64R	C1orf109_ENST00000494120.1_5'UTR	NM_017850.1	NP_060320.1	Q9NX04	CA109_HUMAN	chromosome 1 open reading frame 109	64								p.R64R(1)		lung(2)|prostate(2)	4		Myeloproliferative disorder(586;0.0393)				CTGGGAAGGCCCGAAGCGCCG	0.622000													18	75					0.006122	0.00662413	0.006122	1	0
GLI2	2736	broad.mit.edu	37	2	121554950	121554950	+	Silent	SNP	G	G	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr2:121554950G>T	ENST00000452319.1	+	2	114	c.54G>T	c.(52-54)ggG>ggT	p.G18G	GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000314490.11_5'UTR|GLI2_ENST00000361492.4_Silent_p.G18G			P10070	GLI2_HUMAN	GLI family zinc finger 2	18					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G18G(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CCAAAAGTGGGATCCTGGAGG	0.592000													55	100					3.76525e-18	6.28457e-18	0.014410	1	0
DRD3	1814	broad.mit.edu	37	3	113866281	113866281	+	Silent	SNP	C	C	G			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr3:113866281C>G	ENST00000383673.2	-	4	937	c.507G>C	c.(505-507)ctG>ctC	p.L169L	DRD3_ENST00000295881.7_Silent_p.L169L|DRD3_ENST00000467632.1_Silent_p.L169L|DRD3_ENST00000460779.1_Silent_p.L169L	NM_000796.3	NP_000787.2	P35462	DRD3_HUMAN	dopamine receptor D3	169					activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding	p.L169L(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)	TAAAGCCAAACAGAAGAGGGC	0.542000													50	63					0	0	0.014410	0	0
BTN3A1	11119	broad.mit.edu	37	6	26413835	26413835	+	Missense_Mutation	SNP	T	T	C			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr6:26413835T>C	ENST00000289361.6	+	10	1825	c.1457T>C	c.(1456-1458)cTg>cCg	p.L486P	BTN3A1_ENST00000414912.2_Missense_Mutation_p.L434P	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1	486	B30.2/SPRY.				lipid metabolic process	integral to membrane		p.L486P(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						CATACTTTCCTGGACGTCTCC	0.468000													34	131					0	0	0.004289	0	0
C3orf55	152078	broad.mit.edu	37	3	157271098	157271098	+	Missense_Mutation	SNP	A	A	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr3:157271098A>T	ENST00000449199.2	+	2	193	c.52A>T	c.(52-54)Acg>Tcg	p.T18S	C3orf55_ENST00000312275.5_Missense_Mutation_p.T18S|C3orf55_ENST00000426338.2_Missense_Mutation_p.T18S|C3orf55_ENST00000468043.1_Missense_Mutation_p.T18S|C3orf55_ENST00000498159.1_Intron|C3orf55_ENST00000459838.1_Missense_Mutation_p.T18S|C3orf55_ENST00000461040.1_Missense_Mutation_p.T18S	NM_001130002.2	NP_001123474.1	A1A4F0	CC055_HUMAN	chromosome 3 open reading frame 55	18								p.T18S(2)		breast(1)|lung(1)	2			Lung(72;0.0215)|LUSC - Lung squamous cell carcinoma(72;0.037)			AAGCACTGATACGTCCGGAGA	0.403000													15	3					0	0	0.008871	0	0
NF1	4763	broad.mit.edu	37	17	29661882	29661882	+	Nonsense_Mutation	SNP	G	G	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr17:29661882G>T	ENST00000358273.4	+	40	6222	c.5839G>T	c.(5839-5841)Gaa>Taa	p.E1947*	NF1_ENST00000356175.3_Nonsense_Mutation_p.E1926*|NF1_ENST00000581113.2_3'UTR	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1947					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)|p.E1947*(2)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CCTTTGTTTGGAATACATGAC	0.333000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			8	35					4.68919e-08	6.16242e-08	0.008291	1	0
RPGRIP1L	23322	broad.mit.edu	37	16	53672256	53672256	+	Missense_Mutation	SNP	T	T	G			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr16:53672256T>G	ENST00000379925.3	-	20	3076	c.3026A>C	c.(3025-3027)gAa>gCa	p.E1009A	RPGRIP1L_ENST00000568009.1_5'UTR|RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.E1009A|RPGRIP1L_ENST00000563746.1_Intron|RPGRIP1L_ENST00000262135.4_Intron	NM_015272.2	NP_056087.2	Q68CZ1	FTM_HUMAN	RPGRIP1-like	1009					negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding	p.E1009A(1)		endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				CATATTAATTTCTATTTCTGG	0.338000													7	51					0	0	0.001984	0	0
TMEM145	284339	broad.mit.edu	37	19	42827820	42827820	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr19:42827820C>A	ENST00000301204.3	+	14	1321	c.1280C>A	c.(1279-1281)cCc>cAc	p.P427H		NM_173633.2	NP_775904.2	Q8NBT3	TM145_HUMAN	transmembrane protein 145	427						integral to membrane		p.P427H(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				GTCCCTGGACCCGGAGGGAGC	0.622000													19	25					4.96729e-08	6.50298e-08	0.008871	1	0
SPHKAP	80309	broad.mit.edu	37	2	229046284	229046284	+	Splice_Site	SNP	T	T	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr2:229046284T>A	ENST00000392056.3	-	1	77	c.32_splice	c.e1+1	p.S11_splice	SPHKAP_ENST00000344657.5_Splice_Site_p.S11_splice	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	11						cytoplasm	protein binding	p.S11C(2)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GGGTCTTACCTTGGTACCGAG	0.547000													29	135					0	0	0.007291	0	0
FAM193A	8603	broad.mit.edu	37	4	2698298	2698298	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr4:2698298G>A	ENST00000324666.5	+	16	2963	c.2612G>A	c.(2611-2613)cGa>cAa	p.R871Q	FAM193A_ENST00000502458.1_Missense_Mutation_p.R893Q|FAM193A_ENST00000545951.1_Missense_Mutation_p.R871Q|FAM193A_ENST00000382839.3_Missense_Mutation_p.R871Q|FAM193A_ENST00000505311.1_Missense_Mutation_p.R871Q	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	871								p.R871Q(1)		NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						GCAGCGAAGCGAGCAAGGCAT	0.552000													4	30					0	0	0.009096	0	0
HOXC10	3226	broad.mit.edu	37	12	54379592	54379592	+	Silent	SNP	C	C	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr12:54379592C>A	ENST00000303460.4	+	1	623	c.549C>A	c.(547-549)cgC>cgA	p.R183R		NM_017409.3	NP_059105.2	Q9NYD6	HXC10_HUMAN	homeobox C10	183					positive regulation of cell proliferation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R183R(1)		endometrium(2)|large_intestine(3)|lung(14)|pancreas(1)	20						TCAACCCGCGCGCCGAACATC	0.642000													11	31					4.3838e-07	5.56905e-07	0.001855	1	0
PDE2A	5138	broad.mit.edu	37	11	72292014	72292014	+	Silent	SNP	G	G	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr11:72292014G>A	ENST00000334456.5	-	24	2294	c.2049C>T	c.(2047-2049)gaC>gaT	p.D683D	PDE2A_ENST00000540345.1_Silent_p.D674D|PDE2A_ENST00000544570.1_Silent_p.D676D|PDE2A_ENST00000376450.3_Silent_p.D427D|PDE2A_ENST00000444035.2_Silent_p.D674D|PDE2A_ENST00000418754.2_Silent_p.D568D	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	683	Catalytic (By similarity).				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.D683D(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	AGATCTCGATGTCCCTGGTTG	0.522000													17	36					0	0	0.007413	0	0
LINC00969	440993	broad.mit.edu	37	3	195400822	195400822	+	RNA	SNP	G	G	A	rs56170658	by1000genomes	TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr3:195400822G>A	ENST00000445430.1	+	0	1418																											GTCTGGTCAGGCATGTGCCCT	0.572000													3	9					0	0	0.000602	0	0
DOCK4	9732	broad.mit.edu	37	7	111368565	111368565	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr7:111368565C>A	ENST00000428084.1	-	53	5965	c.5693G>T	c.(5692-5694)gGg>gTg	p.G1898V	DOCK4_ENST00000437633.1_Missense_Mutation_p.G1889V|DOCK4_ENST00000494651.2_Missense_Mutation_p.G772V			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1889	Pro-rich.				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.G1848V(1)|p.G1889V(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)				TGGCTCCTCCCCGCCGTAGCT	0.667000													22	184					6.33239e-15	1.00789e-14	0.010504	1	0
CNTNAP4	85445	broad.mit.edu	37	16	76486440	76486440	+	Silent	SNP	T	T	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr16:76486440T>A	ENST00000307431.8	+	9	1489	c.1104T>A	c.(1102-1104)tcT>tcA	p.S368S	CNTNAP4_ENST00000478060.1_Silent_p.S296S|CNTNAP4_ENST00000377504.4_Silent_p.S320S|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000476707.1_Silent_p.S372S	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	369					cell adhesion|signal transduction	integral to membrane	receptor binding	p.S296S(1)|p.S368S(1)|p.S344S(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						AACCACAATCTATGCCCGTGA	0.383000													19	100					0	0	0.012319	0	0
TBK1	29110	broad.mit.edu	37	12	64875778	64875778	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr12:64875778G>C	ENST00000331710.5	+	8	1308	c.969G>C	c.(967-969)aaG>aaC	p.K323N		NM_013254.3	NP_037386.1	Q9UHD2	TBK1_HUMAN	TANK-binding kinase 1	323	Ubiquitin-like.				I-kappaB kinase/NF-kappaB cascade|innate immune response|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	p.K323N(2)		breast(2)|central_nervous_system(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)	20				GBM - Glioblastoma multiforme(28;0.0386)		CAGCTCATAAGATTTATATTC	0.294000													3	42					0	0	0.004672	0	0
IRS4	8471	broad.mit.edu	37	X	107978507	107978507	+	Silent	SNP	G	G	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chrX:107978507G>T	ENST00000372129.2	-	1	1144	c.1068C>A	c.(1066-1068)tcC>tcA	p.S356S		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	356						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	p.S356S(1)		NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						GCCTCCTAGCGGACAGCAGGG	0.622000													16	199					2.31682e-05	2.6938e-05	0.003163	1	0
MC3R	4159	broad.mit.edu	37	20	54824480	54824480	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr20:54824480C>T	ENST00000243911.2	+	1	693	c.581C>T	c.(580-582)aCc>aTc	p.T194I		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	231					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding	p.T231I(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			TGCCTCATCACCATGTTCTTC	0.582000													27	84					0	0	0.004656	0	0
AHRR	57491	broad.mit.edu	37	5	434671	434671	+	Missense_Mutation	SNP	A	A	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr5:434671A>T	ENST00000316418.5	+	12	1926	c.1882A>T	c.(1882-1884)Agg>Tgg	p.R628W	AHRR_ENST00000506456.1_Missense_Mutation_p.R466W|AHRR_ENST00000512529.1_Missense_Mutation_p.R456W|AHRR_ENST00000505113.1_Missense_Mutation_p.R610W	NM_020731.4	NP_065782.2	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	610	Needed for transcriptional repression (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	p.R624W(1)		breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			TGGGCGCAGCAGGGAGCTGAC	0.687000													5	15					0	0	0.000602	0	0
C8B	732	broad.mit.edu	37	1	57417726	57417726	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr1:57417726G>T	ENST00000543257.1	-	6	1071	c.505C>A	c.(505-507)Cca>Aca	p.P169T	C8B_ENST00000535057.1_Missense_Mutation_p.P159T|C8B_ENST00000371237.4_Missense_Mutation_p.P221T	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	221	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex		p.P221T(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						ctTACCTGTGGCGTGTAGCTT	0.562000													25	44					1.55469e-16	2.54539e-16	0.003330	1	0
CNTN2	6900	broad.mit.edu	37	1	205036281	205036281	+	Silent	SNP	C	C	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr1:205036281C>T	ENST00000331830.4	+	16	2312	c.2028C>T	c.(2026-2028)acC>acT	p.T676T		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	676	Fibronectin type-III 1.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding	p.T676N(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			TGGGCCTCACCCCCTGGATGG	0.577000													5	64					0	0	0.000602	0	0
SERPINC1	462	broad.mit.edu	37	1	173878765	173878765	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr1:173878765C>T	ENST00000367698.3	-	5	1196	c.1078G>A	c.(1078-1080)Ggc>Agc	p.G360S		NM_000488.3	NP_000479.1	P01008	ANT3_HUMAN	serpin peptidase inhibitor, clade C (antithrombin), member 1	360					blood coagulation|regulation of proteolysis	extracellular space|plasma membrane	heparin binding|protease binding|serine-type endopeptidase inhibitor activity	p.G360S(1)		NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1)	25					Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)	AAACTGAAGCCGTCCTCAATG	0.542000													26	138					0	0	0.006320	0	0
MDC1	9656	broad.mit.edu	37	6	30675788	30675788	+	Missense_Mutation	SNP	T	T	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr6:30675788T>A	ENST00000376406.3	-	8	3215	c.2568A>T	c.(2566-2568)aaA>aaT	p.K856N	MDC1_ENST00000376405.2_Intron|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	856				Missing (in Ref. 2; CAH18685).	cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding	p.K856N(1)		breast(2)|kidney(1)|ovary(1)	4						CTCTGTCCTGTTTCCCCTTGG	0.468000								Other conserved DNA damage response genes					110	284					0	0	0.014410	0	0
SYNE1	23345	broad.mit.edu	37	6	152658015	152658015	+	Silent	SNP	C	C	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr6:152658015C>T	ENST00000367255.5	-	76	13090	c.12489G>A	c.(12487-12489)ctG>ctA	p.L4163L	SYNE1_ENST00000423061.1_Silent_p.L4092L|SYNE1_ENST00000341594.5_Silent_p.L4028L|SYNE1_ENST00000265368.4_Silent_p.L4163L|SYNE1_ENST00000448038.1_Silent_p.L4092L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4163					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	p.L4163L(2)|p.L4092L(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGTTCAGCTCCAGCTCAGAGT	0.468000										HNSCC(10;0.0054)			31	93					0	0	0.003755	0	0
CYP11B1	1584	broad.mit.edu	37	8	143957731	143957731	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr8:143957731G>T	ENST00000292427.4	-	5	912	c.880C>A	c.(880-882)Ctg>Atg	p.L294M	CYP11B1_ENST00000377675.3_Missense_Mutation_p.L365M|CYP11B1_ENST00000517471.1_Missense_Mutation_p.L294M	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	294					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity	p.L294M(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	GCATTCAACAGGAGCTCCGCC	0.597000									Familial Hyperaldosteronism type I				15	27					0.00316338	0.00345004	0.003163	1	0
GPR101	83550	broad.mit.edu	37	X	136112696	136112696	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chrX:136112696G>T	ENST00000298110.1	-	1	1137	c.1138C>A	c.(1138-1140)Cgt>Agt	p.R380S		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	380						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R380S(1)		autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					CTGTTACGACGACTGGGTGGG	0.512000													6	161					0.00116845	0.00129283	0.001168	1	0
HRNR	388697	broad.mit.edu	37	1	152187706	152187706	+	Silent	SNP	G	G	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr1:152187706G>A	ENST00000368801.2	-	3	6474	c.6399C>T	c.(6397-6399)taC>taT	p.Y2133Y	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2133					keratinization		calcium ion binding|protein binding	p.Y2133*(1)|p.Y2133Y(1)		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)			CGTGTTGTCCGTAGCCAGAGG	0.567000													105	2020					0	0	0.014410	0	0
EIF3A	8661	broad.mit.edu	37	10	120810820	120810820	+	Missense_Mutation	SNP	T	T	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr10:120810820T>A	ENST00000369144.3	-	15	2337	c.2210A>T	c.(2209-2211)cAg>cTg	p.Q737L	EIF3A_ENST00000478852.1_Intron|EIF3A_ENST00000541549.1_Missense_Mutation_p.Q703L	NM_003750.2	NP_003741.1	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3, subunit A	737	Glu-rich.|Interaction with EIF3B.				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity	p.Q737L(1)		endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		ACGTTCTAGCTGCATTGTAGT	0.348000													30	66					0	0	0.010818	0	0
UGT2B28	54490	broad.mit.edu	37	4	70146540	70146540	+	Missense_Mutation	SNP	T	T	C			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr4:70146540T>C	ENST00000335568.5	+	1	324	c.322T>C	c.(322-324)Tat>Cat	p.Y108H	UGT2B28_ENST00000511240.1_Missense_Mutation_p.Y108H	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	108					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.L107_Y108>FH(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	CTTTTGGTTATATTTTTCACA	0.294000													35	122					0	0	0.006230	0	0
NOX3	50508	broad.mit.edu	37	6	155764448	155764448	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr6:155764448G>T	ENST00000159060.2	-	5	547	c.445C>A	c.(445-447)Cct>Act	p.P149T		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	149	Ferric oxidoreductase.						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding	p.P149T(1)		cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		CTCTCGTTAGGGGTGTTGCCC	0.572000													17	34					5.35267e-07	6.77478e-07	0.007413	1	0
LPPR4	9890	broad.mit.edu	37	1	99771956	99771956	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr1:99771956C>T	ENST00000370185.3	+	7	2179	c.1682C>T	c.(1681-1683)gCt>gTt	p.A561V	LPPR4_ENST00000370184.1_Missense_Mutation_p.A403V|LPPR4_ENST00000457765.1_Missense_Mutation_p.A503V	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		561							phosphatidate phosphatase activity	p.A561V(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		TTAAAAGCTGCTGAAAAGACT	0.547000													14	66					0	0	0.002450	0	0
MC3R	4159	broad.mit.edu	37	20	54824808	54824808	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr20:54824808C>A	ENST00000243911.2	+	1	1021	c.909C>A	c.(907-909)agC>agA	p.S303R		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	340					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding	p.S340R(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			CTTTCCGGAGCCTGGAATTGC	0.537000													49	143					3.50607e-19	5.895e-19	0.014410	1	0
IGLJ3	28831	broad.mit.edu	37	22	23247203	23247203	+	RNA	SNP	T	T	C			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr22:23247203T>C	ENST00000390324.2	+	0	174																											CTGACCGTCCTAGGTGAGTCT	0.547000													6	75					0	0	0.001984	0	0
OR2T4	127074	broad.mit.edu	37	1	248525781	248525781	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr1:248525781C>A	ENST00000366475.1	+	1	899	c.899C>A	c.(898-900)cCt>cAt	p.P300H		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	300					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P300H(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)			TACCACACCCCTGAGAAGGAC	0.507000													70	130					1.43675e-24	2.54681e-24	0.014410	1	0
SLC15A3	51296	broad.mit.edu	37	11	60714150	60714150	+	Silent	SNP	C	C	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr11:60714150C>A	ENST00000227880.3	-	2	935	c.702G>T	c.(700-702)gtG>gtT	p.V234V		NM_016582.2	NP_057666.1	Q8IY34	S15A3_HUMAN	solute carrier family 15 (oligopeptide transporter), member 3	234					oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity	p.V234V(1)		central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)	17						CCACACAGCCCACAGGGATGC	0.562000													31	199					4.15321e-07	5.29573e-07	0.009535	1	0
OTOA	146183	broad.mit.edu	37	16	21739679	21739679	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr16:21739679G>T	ENST00000388958.3	+	19	2135	c.2134G>T	c.(2134-2136)Ggc>Tgc	p.G712C	OTOA_ENST00000388957.3_Missense_Mutation_p.G388C|OTOA_ENST00000388956.4_Missense_Mutation_p.G633C|OTOA_ENST00000286149.4_Missense_Mutation_p.G726C	NM_144672.3	NP_653273.3	Q7RTW8	OTOAN_HUMAN	otoancorin	726					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix		p.G712S(1)|p.G712C(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		TGCTCTACACGGCCTCAGAGA	0.597000													13	17					2.31682e-05	2.6938e-05	0.003163	1	0
SLC2A10	81031	broad.mit.edu	37	20	45354645	45354645	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr20:45354645G>T	ENST00000359271.2	+	2	1220	c.970G>T	c.(970-972)Gac>Tac	p.D324Y		NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 10	324						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity	p.D324Y(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				CGTGCCCATGGACTCAGGCCC	0.652000													17	42					1.5739e-10	2.23077e-10	0.004007	1	0
PARPBP	55010	broad.mit.edu	37	12	102589845	102589845	+	Nonsense_Mutation	SNP	A	A	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr12:102589845A>T	ENST00000327680.2	+	12	1736	c.1273A>T	c.(1273-1275)Aaa>Taa	p.K425*	PARPBP_ENST00000541394.1_Nonsense_Mutation_p.K583*|PARPBP_ENST00000535811.1_3'UTR|PARPBP_ENST00000392911.2_Nonsense_Mutation_p.K425*|PARPBP_ENST00000378128.3_3'UTR|PARPBP_ENST00000358383.5_Nonsense_Mutation_p.K506*|PARPBP_ENST00000543784.1_3'UTR	NM_017915.3	NP_060385.3	Q9NWS1	PR1BP_HUMAN	PARP1 binding protein	506					response to DNA damage stimulus	cytoplasm|nucleus	DNA binding	p.K425*(1)|p.K506*(1)		endometrium(1)|lung(8)|urinary_tract(2)	11						GACAGGAAATAAAAGCTCAAA	0.328000													29	12					0	0	0.007291	0	0
RAD51AP2	729475	broad.mit.edu	37	2	17696481	17696481	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr2:17696481G>T	ENST00000399080.2	-	1	3225	c.3202C>A	c.(3202-3204)Cca>Aca	p.P1068T		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	1068								p.P1068T(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GATCTACTTGGATAACAACTC	0.323000													4	20					0.00909568	0.00976469	0.009096	1	0
HOXA3	3200	broad.mit.edu	37	7	27148137	27148137	+	Silent	SNP	G	G	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr7:27148137G>T	ENST00000396352.4	-	3	928	c.729C>A	c.(727-729)cgC>cgA	p.R243R	HOXA3_ENST00000317201.2_Silent_p.R243R|HOXA-AS2_ENST00000518088.1_RNA	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3	243					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R243R(1)		breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						TGTACTTCATGCGGCGATTCT	0.612000													27	87					2.44723e-14	3.84165e-14	0.004656	1	0
SLC17A1	6568	broad.mit.edu	37	6	25813412	25813412	+	Missense_Mutation	SNP	A	A	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr6:25813412A>T	ENST00000244527.4	-	7	761	c.646T>A	c.(646-648)Tgg>Agg	p.W216R	SLC17A1_ENST00000476801.1_Missense_Mutation_p.W216R|SLC17A1_ENST00000468082.1_Missense_Mutation_p.W216R|SLC17A1_ENST00000427328.1_Missense_Mutation_p.W216R	NM_005074.3	NP_005065.2	Q14916	NPT1_HUMAN	solute carrier family 17 (organic anion transporter), member 1	216					sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity	p.W216R(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						AGAACGAACCAGAGAAGACAT	0.448000													21	64					0	0	0.010504	0	0
KNSTRN	90417	broad.mit.edu	37	15	40675518	40675518	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr15:40675518C>T	ENST00000416151.2	+	2	414	c.299C>T	c.(298-300)cCg>cTg	p.P100L	KNSTRN_ENST00000448395.2_Missense_Mutation_p.P100L|KNSTRN_ENST00000249776.8_Missense_Mutation_p.P100L	NM_001142761.1	NP_001136233.1			kinetochore-localized astrin/SPAG5 binding protein									p.P100L(1)									GGCGGCCAGCCGGCAGGTGAG	0.682000													7	10					0	0	0.003080	0	0
CLEC9A	283420	broad.mit.edu	37	12	10218183	10218183	+	Silent	SNP	G	G	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr12:10218183G>T	ENST00000355819.1	+	9	1291	c.678G>T	c.(676-678)acG>acT	p.T226T		NM_207345.2	NP_997228.1	Q6UXN8	CLC9A_HUMAN	C-type lectin domain family 9, member A	226	C-type lectin.				positive regulation of cytokine secretion|receptor-mediated endocytosis	cell surface|integral to membrane	receptor activity|sugar binding	p.T226T(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	22						ACTGCAGCACGTGGAAGTATT	0.423000													52	93					1.46357e-32	2.69172e-32	0.014410	1	0
MYO16	23026	broad.mit.edu	37	13	109459025	109459025	+	Splice_Site	SNP	A	A	G			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr13:109459025A>G	ENST00000356711.2	+	7	801		c.e7-1		MYO16_ENST00000251041.5_Splice_Site|MYO16_ENST00000357550.2_Splice_Site	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI						cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	p.?(1)		NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TCTTCGCTGCAGTTACACATG	0.423000													14	38					0	0	0.001855	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84706570	84706570	+	Missense_Mutation	SNP	G	G	T	rs146074595		TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr15:84706570G>T	ENST00000567476.1	+	30	5264	c.5042G>T	c.(5041-5043)gGg>gTg	p.G1681V	ADAMTSL3_ENST00000286744.5_3'UTR			P82987	ATL3_HUMAN	ADAMTS-like 3	0	PLAC.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			CCTTTGGAGGGGTCATGATGC	0.378000													27	20					1.77063e-15	2.85801e-15	0.005443	1	0
LSG1	55341	broad.mit.edu	37	3	194366963	194366963	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr3:194366963C>A	ENST00000265245.5	-	12	1867	c.1553G>T	c.(1552-1554)gGa>gTa	p.G518V		NM_018385.2	NP_060855.2	Q9H089	LSG1_HUMAN	large 60S subunit nuclear export GTPase 1	518					nuclear export|protein transport	Cajal body|endoplasmic reticulum	GTP binding|hydrolase activity	p.G518V(1)		breast(2)|endometrium(3)|large_intestine(2)|lung(9)	16	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)		TGTCATGAATCCTCGCATGTC	0.453000													18	126					1.67942e-08	2.2414e-08	0.006122	1	0
ITSN2	50618	broad.mit.edu	37	2	24443819	24443819	+	Missense_Mutation	SNP	C	C	A	rs150580767		TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr2:24443819C>A	ENST00000355123.4	-	30	4137	c.3694G>T	c.(3694-3696)Gtc>Ttc	p.V1232F	AC009228.1_ENST00000430105.1_RNA|ITSN2_ENST00000406921.3_Missense_Mutation_p.V1232F|ITSN2_ENST00000361999.3_Missense_Mutation_p.V1205F|AC009228.1_ENST00000413989.1_RNA	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	1232	DH.				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	p.V1231F(1)|p.V1232F(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTCACCTCGACGACGAGCTGA	0.552000													18	137					6.49762e-13	9.71104e-13	0.006122	1	0
FARP1	10160	broad.mit.edu	37	13	99042284	99042284	+	Missense_Mutation	SNP	T	T	G			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr13:99042284T>G	ENST00000376586.2	+	10	1265	c.929T>G	c.(928-930)gTt>gGt	p.V310G	FARP1_ENST00000595437.1_Missense_Mutation_p.V310G|FARP1_ENST00000319562.6_Missense_Mutation_p.V310G			Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	310	FERM.				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	p.V310G(2)		breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			AAAATCTGTGTTGAACATCAT	0.483000													30	125					0	0	0.008361	0	0
KHDC3L	154288	broad.mit.edu	37	6	74072525	74072525	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr6:74072525G>C	ENST00000370367.3	+	1	126	c.73G>C	c.(73-75)Ggt>Cgt	p.G25R		NM_001017361.2	NP_001017361.1			KH domain containing 3-like, subcortical maternal complex member									p.G25S(2)|p.G25R(1)									GGAGGTGCTCGGTCACCTCCC	0.577000													23	48					0	0	0.014323	0	0
MAGED1	9500	broad.mit.edu	37	X	51640681	51640681	+	Missense_Mutation	SNP	T	T	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chrX:51640681T>A	ENST00000375695.2	+	7	1846	c.1693T>A	c.(1693-1695)Tat>Aat	p.Y565N	MAGED1_ENST00000494718.1_3'UTR|MAGED1_ENST00000375772.3_Missense_Mutation_p.Y509N|MAGED1_ENST00000375722.1_Missense_Mutation_p.Y509N|MAGED1_ENST00000326587.7_Missense_Mutation_p.Y509N	NM_001005333.1	NP_001005333.1	Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1	509	MAGE.				apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|plasma membrane|protein complex	protein binding	p.Y565N(1)		breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					CACTGATGTTTATCCAGAAAT	0.488000										Multiple Myeloma(10;0.10)			5	77					0	0	0.001168	0	0
LRP1B	53353	broad.mit.edu	37	2	141625343	141625343	+	Silent	SNP	A	A	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr2:141625343A>T	ENST00000389484.3	-	27	5366	c.4395T>A	c.(4393-4395)ggT>ggA	p.G1465G		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1465					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.G1465G(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)		GGTATTCATGACCTCGGATGA	0.408000										TSP Lung(27;0.18)			40	57					0	0	0.008740	0	0
FLT3	2322	broad.mit.edu	37	13	28599082	28599082	+	Splice_Site	SNP	T	T	C			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr13:28599082T>C	ENST00000380982.4	-	18	2289		c.e18-2		FLT3_ENST00000537084.1_Splice_Site|FLT3_ENST00000241453.7_Splice_Site			P36888	FLT3_HUMAN	fms-related tyrosine kinase 3						positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	p.?(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)	CCAGGCATGCTATTAAAAAAT	0.299000			"""Mis, O"""		"""AML, ALL"""								3	96					0	0	0.004672	0	0
FMN2	56776	broad.mit.edu	37	1	240497409	240497409	+	Splice_Site	SNP	G	G	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr1:240497409G>T	ENST00000319653.9	+	13	4875	c.4644_splice	c.e13-1	p.D1549_splice	FMN2_ENST00000545751.1_Splice_Site_p.D145_splice	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1549	FH2.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	p.?(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TGTTCATTAGGATGCTGGAAA	0.343000													59	92					2.37494e-14	3.73672e-14	0.014410	1	0
OR2J2	26707	broad.mit.edu	37	6	29142112	29142112	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr6:29142112G>T	ENST00000377167.2	+	1	802	c.700G>T	c.(700-702)Ggg>Tgg	p.G234W		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G234W(2)		endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						ATCAACCACTGGGCTTCAGAA	0.453000													33	108					5.20006e-24	9.17029e-24	0.011902	1	0
CANT1	124583	broad.mit.edu	37	17	76993507	76993507	+	Silent	SNP	G	G	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr17:76993507G>A	ENST00000302345.2	-	2	692	c.198C>T	c.(196-198)ccC>ccT	p.P66P	CANT1_ENST00000591773.1_Silent_p.P66P|CANT1_ENST00000392446.5_Silent_p.P66P	NM_001159773.1|NM_138793.3	NP_001153245.1|NP_620148.1	Q8WVQ1	CANT1_HUMAN	calcium activated nucleotidase 1	66					positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to membrane	calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity	p.P66P(1)	CANT1/ETV4(3)	cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			GGGGCCTGCCGGGGGCCGGGC	0.682000			T	ETV4	prostate								8	33					0	0	0.003080	0	0
PTCHD4	442213	broad.mit.edu	37	6	47846147	47846147	+	Silent	SNP	G	G	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr6:47846147G>A	ENST00000339488.4	-	3	2466	c.2433C>T	c.(2431-2433)ccC>ccT	p.P811P		NM_001013732.3	NP_001013754.3	Q6ZW05	CF138_HUMAN	patched domain containing 4	811						integral to membrane	hedgehog receptor activity	p.P811P(1)									TTTTGGAAGGGGGGAAAAACG	0.453000													37	77					0	0	0.003755	0	0
ZNF461	92283	broad.mit.edu	37	19	37130585	37130585	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr19:37130585C>A	ENST00000588268.1	-	6	889	c.662G>T	c.(661-663)tGt>tTt	p.C221F	ZNF461_ENST00000360357.4_Missense_Mutation_p.C198F|ZNF461_ENST00000540605.2_5'UTR	NM_153257.2	NP_694989.2	Q8TAF7	ZN461_HUMAN	zinc finger protein 461	221					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.C94F(1)|p.C221F(1)		endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|prostate(1)|urinary_tract(2)	29	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GCATTCTTTACATTCAGAAAG	0.313000													21	29					6.33239e-15	1.00789e-14	0.010504	1	0
MYO7B	4648	broad.mit.edu	37	2	128346070	128346070	+	Silent	SNP	A	A	G			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr2:128346070A>G	ENST00000389524.4	+	15	1847	c.1794A>G	c.(1792-1794)gcA>gcG	p.A598A	MYO7B_ENST00000409816.2_Silent_p.A598A|MYO7B_ENST00000428314.1_Silent_p.A598A			Q6PIF6	MYO7B_HUMAN	myosin VIIB	598	Myosin head-like.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	p.A598A(2)		breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		TGGAGTTAGCAGAGACCAAGC	0.542000													12	71					0	0	0.001855	0	0
PNLIPRP1	5407	broad.mit.edu	37	10	118355819	118355819	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr10:118355819C>A	ENST00000528052.1	+	6	630	c.559C>A	c.(559-561)Ctg>Atg	p.L187M	PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.L187M|PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.L187M			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	187					lipid metabolic process		calcium ion binding|triglyceride lipase activity	p.L187M(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		GACTCCAGGCCTGAGCAGGAT	0.582000													32	129					2.81731e-10	3.93621e-10	0.010818	1	0
OGT	8473	broad.mit.edu	37	X	70787503	70787503	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chrX:70787503G>T	ENST00000373719.3	+	20	2960	c.2743G>T	c.(2743-2745)Ggc>Tgc	p.G915C	OGT_ENST00000373701.3_Missense_Mutation_p.G905C	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	915					cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity	p.G915C(1)|p.G905C(1)		breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					CGTCAGGAGAGGCCAGCTGGC	0.527000													6	49					2.0095e-06	2.46604e-06	0.001984	1	0
SPTAN1	6709	broad.mit.edu	37	9	131356466	131356466	+	Silent	SNP	G	G	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr9:131356466G>T	ENST00000372739.3	+	24	3338	c.3228G>T	c.(3226-3228)ctG>ctT	p.L1076L	SPTAN1_ENST00000372731.4_Silent_p.L1076L|SPTAN1_ENST00000475367.1_3'UTR|SPTAN1_ENST00000358161.5_Silent_p.L1076L	NM_001130438.2	NP_001123910.1	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1076					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton	p.L1076L(1)		NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						ATCATTCTCTGCTGGAACTGG	0.448000													24	64					2.27525e-19	3.84439e-19	0.003954	1	0
PTPN4	5775	broad.mit.edu	37	2	120725423	120725423	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr2:120725423G>A	ENST00000263708.2	+	26	3340	c.2569G>A	c.(2569-2571)Gga>Aga	p.G857R	PTPN4_ENST00000544261.1_Missense_Mutation_p.G490R	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	857	Substrate binding (By similarity).|Tyrosine-protein phosphatase.					cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity	p.G857R(1)		endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	TGCTGGAATCGGAAGAACTGG	0.358000													38	90					0	0	0.006999	0	0
SYT15	83849	broad.mit.edu	37	10	46967663	46967663	+	Silent	SNP	T	T	C			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr10:46967663T>C	ENST00000374323.3	-	3	1160	c.573A>G	c.(571-573)aaA>aaG	p.K191K	SYT15_ENST00000374325.3_Silent_p.K138K|SYT15_ENST00000503753.1_Silent_p.K138K|SYT15_ENST00000374321.4_Silent_p.K138K			Q9BQS2	SYT15_HUMAN	synaptotagmin XV	138	C2 1.					integral to membrane|plasma membrane		p.K138K(2)|p.K190K(1)		cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						CGGTCTCACTTTTGTCCTCCG	0.612000													16	175					0	0	0.007413	0	0
DUSP15	128853	broad.mit.edu	37	20	30436290	30436290	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr20:30436290G>C	ENST00000278979.3	-	10	881	c.805C>G	c.(805-807)Cct>Gct	p.P269A				Q9H1R2	DUS15_HUMAN	dual specificity phosphatase 15	269						cytoplasm|plasma membrane	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.P269A(1)		large_intestine(1)|lung(4)|pancreas(1)|stomach(1)	7			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GGGTTGCCAGGGGTTGAGGAC	0.642000													15	19					0	0	0.003163	0	0
GRID1	2894	broad.mit.edu	37	10	87379647	87379647	+	Silent	SNP	G	G	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr10:87379647G>T	ENST00000327946.7	-	14	2422	c.2337C>A	c.(2335-2337)ccC>ccA	p.P779P	GRID1_ENST00000536331.1_Silent_p.P350P	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	779						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	p.P779P(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)	GGTCCCTGTAGGGGCTGCCAT	0.567000										Multiple Myeloma(13;0.14)			13	26					1.5842e-08	2.11844e-08	0.001855	1	0
MXRA5	25878	broad.mit.edu	37	X	3228872	3228872	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chrX:3228872C>A	ENST00000217939.6	-	7	7526	c.7372G>T	c.(7372-7374)Ggg>Tgg	p.G2458W		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2458	Ig-like C2-type 9.					extracellular region		p.G2458W(2)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CGACTGCCCCCGGCTGCTATC	0.577000													14	33					1.5842e-08	2.11844e-08	0.001855	1	0
AHNAK2	113146	broad.mit.edu	37	14	105420366	105420366	+	Silent	SNP	G	G	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr14:105420366G>T	ENST00000333244.5	-	7	1541	c.1422C>A	c.(1420-1422)ggC>ggA	p.G474G		NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	474						nucleus		p.G474G(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CAATCTGTGTGCCTCCTTCGG	0.522000													27	55					2.61193e-14	4.09083e-14	0.009535	1	0
PLA2G4D	283748	broad.mit.edu	37	15	42379517	42379517	+	Missense_Mutation	SNP	A	A	C			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr15:42379517A>C	ENST00000290472.3	-	3	330	c.236T>G	c.(235-237)cTt>cGt	p.L79R		NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD (cytosolic)	79	C2.				phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity	p.L79R(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		ACTTTGGATAAGGAAACGGAA	0.562000													3	114					0	0	0.004672	0	0
SPHKAP	80309	broad.mit.edu	37	2	228883814	228883814	+	Missense_Mutation	SNP	T	T	G			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr2:228883814T>G	ENST00000392056.3	-	7	1802	c.1756A>C	c.(1756-1758)Agt>Cgt	p.S586R	SPHKAP_ENST00000344657.5_Missense_Mutation_p.S586R	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	586						cytoplasm	protein binding	p.S586R(2)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		AGGCTACCACTTGGAGCCACT	0.562000													11	41					0	0	0.008291	0	0
NPAS4	266743	broad.mit.edu	37	11	66189700	66189700	+	Silent	SNP	C	C	G			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr11:66189700C>G	ENST00000311034.2	+	2	461	c.285C>G	c.(283-285)ctC>ctG	p.L95L		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	95	PAS 1.				transcription, DNA-dependent		DNA binding|signal transducer activity	p.L95L(1)		breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						GGAAATTGCTCTACCTGTCTG	0.597000													37	70					0	0	0.011902	0	0
NPHP1	4867	broad.mit.edu	37	2	110917777	110917777	+	Missense_Mutation	SNP	A	A	C			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr2:110917777A>C	ENST00000316534.4	-	11	1251	c.1178T>G	c.(1177-1179)aTg>aGg	p.M393R	NPHP1_ENST00000445609.2_Missense_Mutation_p.M337R|NPHP1_ENST00000355301.4_Missense_Mutation_p.M274R|NPHP1_ENST00000393272.3_Missense_Mutation_p.M392R|NPHP1_ENST00000417665.1_Missense_Mutation_p.M336R			O15259	NPHP1_HUMAN	nephronophthisis 1 (juvenile)	392					actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior	adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium	protein binding|structural molecule activity	p.M393R(1)		autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						AAGAGGAATCATTTTACAGCT	0.333000													5	108					0	0	0.001168	0	0
ACSL1	2180	broad.mit.edu	37	4	185679038	185679038	+	Missense_Mutation	SNP	T	T	C			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr4:185679038T>C	ENST00000515030.1	-	19	2144	c.1819A>G	c.(1819-1821)Aca>Gca	p.T607A	ACSL1_ENST00000281455.2_Missense_Mutation_p.T607A|ACSL1_ENST00000507295.1_Missense_Mutation_p.T573A|ACSL1_ENST00000437665.3_Missense_Mutation_p.T436A|ACSL1_ENST00000504342.1_Missense_Mutation_p.T607A|ACSL1_ENST00000454703.2_Missense_Mutation_p.T436A|ACSL1_ENST00000513317.1_Missense_Mutation_p.T607A			P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1	607					digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity	p.T607A(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GAACATAATGTCTCAACATCT	0.403000													10	95					0	0	0.008291	0	0
DNAH10	196385	broad.mit.edu	37	12	124409644	124409644	+	Silent	SNP	C	C	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr12:124409644C>T	ENST00000409039.3	+	67	11485	c.11460C>T	c.(11458-11460)taC>taT	p.Y3820Y	CCDC92_ENST00000544798.1_Intron	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3820					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.Y3820Y(1)|p.Y2412Y(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CCTTGGGTTACGATAACAACA	0.473000													4	74					0	0	0.000602	0	0
DTL	51514	broad.mit.edu	37	1	212245479	212245479	+	Missense_Mutation	SNP	A	A	C			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr1:212245479A>C	ENST00000366991.4	+	11	1273	c.959A>C	c.(958-960)tAt>tCt	p.Y320S	DTL_ENST00000475419.1_3'UTR|DTL_ENST00000542077.1_Missense_Mutation_p.Y278S	NM_016448.2	NP_057532.2	Q9NZJ0	DTL_HUMAN	denticleless E3 ubiquitin protein ligase homolog (Drosophila)	320					DNA replication|G2/M transition DNA damage checkpoint|protein monoubiquitination|protein polyubiquitination|response to UV|translesion synthesis|ubiquitin-dependent protein catabolic process	centrosome|Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|nuclear membrane	protein binding	p.Y320S(1)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102)		TCTACCTTTTATGTAAAATCC	0.398000													6	85					0	0	0.001984	0	0
COL17A1	1308	broad.mit.edu	37	10	105794522	105794522	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr10:105794522G>A	ENST00000353479.5	-	51	3913	c.3623C>T	c.(3622-3624)gCc>gTc	p.A1208V	COL17A1_ENST00000369733.3_Missense_Mutation_p.A1126V	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	1208	Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding	p.A1208F(1)		NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TGACAAGCCGGCAGCTGGGCA	0.647000													10	36					0	0	0.010729	0	0
TGIF2LX	90316	broad.mit.edu	37	X	89177194	89177194	+	Missense_Mutation	SNP	A	A	G			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chrX:89177194A>G	ENST00000561129.2	+	1	240	c.110A>G	c.(109-111)aAc>aGc	p.N37S	TGIF2LX_ENST00000283891.5_Missense_Mutation_p.N37S			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	37						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.N37S(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						TCGAGAAATAACGCAGATACA	0.562000													17	25					0	0	0.003755	0	0
REM1	28954	broad.mit.edu	37	20	30064326	30064326	+	Silent	SNP	G	G	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr20:30064326G>T	ENST00000201979.2	+	2	371	c.78G>T	c.(76-78)cgG>cgT	p.R26R	DEFB124_ENST00000481595.1_Intron	NM_014012.4	NP_054731.2	O75628	REM1_HUMAN	RAS (RAD and GEM)-like GTP-binding 1	26					small GTPase mediated signal transduction	membrane	calmodulin binding|GTP binding|GTPase activity	p.R26L(1)		kidney(3)|large_intestine(3)|lung(14)|pancreas(2)|upper_aerodigestive_tract(1)	23	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			TGTCCCCACGGGGCCACCAGC	0.642000													7	48					2.80697e-09	3.85117e-09	0.010729	1	0
ATRX	546	broad.mit.edu	37	X	76937081	76937081	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chrX:76937081C>G	ENST00000373344.5	-	9	3881	c.3667G>C	c.(3667-3669)Gaa>Caa	p.E1223Q	ATRX_ENST00000395603.3_Missense_Mutation_p.E1185Q|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1223					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.E1223Q(2)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	ATTTTCTGTTCATCGCTGCTT	0.343000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						14	182					0	0	0.002450	0	0
ANKRD13B	124930	broad.mit.edu	37	17	27935036	27935036	+	Nonsense_Mutation	SNP	G	G	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr17:27935036G>T	ENST00000394859.3	+	3	437	c.283G>T	c.(283-285)Gag>Tag	p.E95*	RP11-68I3.2_ENST00000581474.1_RNA	NM_152345.4	NP_689558.4	Q86YJ7	AN13B_HUMAN	ankyrin repeat domain 13B	95								p.E95*(1)		cervix(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	16						CCGGGACCTGGAGCTGGTGCA	0.662000													18	22					1.02788e-11	1.47826e-11	0.004990	1	0
STARD3NL	83930	broad.mit.edu	37	7	38247244	38247244	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr7:38247244G>A	ENST00000009041.7	+	2	396	c.139G>A	c.(139-141)Ggc>Agc	p.G47S	STARD3NL_ENST00000396013.1_Missense_Mutation_p.G47S|STARD3NL_ENST00000544203.1_Missense_Mutation_p.G40S|STARD3NL_ENST00000434197.1_Missense_Mutation_p.G47S	NM_032016.3	NP_114405.1	O95772	MENTO_HUMAN	STARD3 N-terminal like	47						integral to membrane|late endosome membrane		p.G47S(1)		endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10						GGAAAAGAAAGGCATATCTGA	0.443000													33	91					0	0	0.012213	0	0
OR52B4	143496	broad.mit.edu	37	11	4389409	4389409	+	Silent	SNP	G	G	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr11:4389409G>A	ENST00000408920.2	-	1	207	c.117C>T	c.(115-117)acC>acT	p.T39T		NM_001005161.3	NP_001005161.2	Q8NGK2	O52B4_HUMAN	olfactory receptor, family 52, subfamily B, member 4	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T39T(1)		NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAAGAAGGGCGGTGACATAGG	0.527000													4	33					0	0	0.009096	0	0
SLK	9748	broad.mit.edu	37	10	105750539	105750539	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr10:105750539G>C	ENST00000369755.3	+	2	802	c.257G>C	c.(256-258)tGt>tCt	p.C86S	SLK_ENST00000335753.4_Missense_Mutation_p.C86S	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	86	Protein kinase.				apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity	p.C86S(1)		kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TTAGCATCTTGTGATCACCCA	0.348000													9	57					0	0	0.006214	0	0
RAD52	5893	broad.mit.edu	37	12	1025913	1025913	+	Missense_Mutation	SNP	T	T	G			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr12:1025913T>G	ENST00000358495.3	-	8	755	c.617A>C	c.(616-618)aAc>aCc	p.N206T	RAD52_ENST00000539046.1_Missense_Mutation_p.N129T|RAD52_ENST00000536177.1_Missense_Mutation_p.N206T|RAD52_ENST00000430095.2_Missense_Mutation_p.N206T	NM_134424.2	NP_602296.2	P43351	RAD52_HUMAN	RAD52 homolog (S. cerevisiae)	206					DNA recombinase assembly|mitotic recombination|reciprocal meiotic recombination	nucleoplasm	DNA binding|protein binding	p.N206T(1)		central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323)			TCGGCAGCTGTTGTATCTTGC	0.527000								Homologous recombination					33	75					0	0	0.012213	0	0
GPR153	387509	broad.mit.edu	37	1	6313832	6313832	+	Silent	SNP	G	G	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr1:6313832G>A	ENST00000377893.2	-	3	991	c.732C>T	c.(730-732)ggC>ggT	p.G244G		NM_207370.2	NP_997253.2	Q6NV75	GP153_HUMAN	G protein-coupled receptor 153	244						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.G244G(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|liver(1)|lung(7)|skin(1)	14	Ovarian(185;0.0634)	all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246)		TGGTCACGAGGCCCGTGGTCT	0.652000													9	30					0	0	0.006214	0	0
SALL4	57167	broad.mit.edu	37	20	50408856	50408856	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr20:50408856C>A	ENST00000217086.4	-	2	277	c.166G>T	c.(166-168)Gcg>Tcg	p.A56S	SALL4_ENST00000483130.1_5'UTR|SALL4_ENST00000371539.3_Intron|SALL4_ENST00000395997.3_Missense_Mutation_p.A56S	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	56					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A56S(1)		endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TCCTCACTCGCCACCTCGTCA	0.552000													23	61					2.98393e-07	3.82613e-07	0.002780	1	0
LILRB2	10288	broad.mit.edu	37	19	54780746	54780746	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr19:54780746C>A	ENST00000391748.1	-	10	1522	c.1395G>T	c.(1393-1395)ttG>ttT	p.L465F	LILRB2_ENST00000314446.5_Missense_Mutation_p.L465F|LILRB2_ENST00000391749.4_Missense_Mutation_p.L466F|LILRB2_ENST00000434421.1_Missense_Mutation_p.L350F|LILRB2_ENST00000391746.1_Missense_Mutation_p.L466F	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	466					cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity	p.L466F(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CGACGGCCACCAAGATGCCGA	0.577000													19	32					1.45105e-14	2.2936e-14	0.006122	1	0
CBLL1	79872	broad.mit.edu	37	7	107399544	107399544	+	Missense_Mutation	SNP	T	T	C			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr7:107399544T>C	ENST00000440859.2	+	6	1864	c.1397T>C	c.(1396-1398)tTg>tCg	p.L466S	CBLL1_ENST00000222597.2_Missense_Mutation_p.L465S	NM_024814.2	NP_079090.2	Q75N03	HAKAI_HUMAN	Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase	466	Pro-rich.				cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis		protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.L466S(1)		endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						CCTCCACGATTGCAGGGTCCG	0.488000													95	247					0	0	0.014410	0	0
ZNF266	10781	broad.mit.edu	37	19	9524200	9524200	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr19:9524200C>A	ENST00000592904.1	-	5	3477	c.1401G>T	c.(1399-1401)atG>atT	p.M467I	ZNF266_ENST00000590306.1_Missense_Mutation_p.M467I|ZNF266_ENST00000588933.1_Missense_Mutation_p.M467I|ZNF266_ENST00000361451.2_Missense_Mutation_p.M467I|ZNF266_ENST00000588221.1_Missense_Mutation_p.M467I|ZNF266_ENST00000361151.1_Missense_Mutation_p.M467I|ZNF266_ENST00000592292.1_Missense_Mutation_p.M467I			Q14584	ZN266_HUMAN	zinc finger protein 266	467					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.M467I(1)		NS(1)|breast(2)|endometrium(2)|large_intestine(11)|lung(8)|ovary(1)|skin(2)|stomach(1)	28						TGCCACATTCCATACACGTGA	0.448000													8	29					0.00448238	0.00487308	0.004482	1	0
PDGFRA	5156	broad.mit.edu	37	4	55131107	55131107	+	Missense_Mutation	SNP	A	A	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr4:55131107A>T	ENST00000257290.5	+	5	981	c.650A>T	c.(649-651)gAa>gTa	p.E217V	FIP1L1_ENST00000507166.1_Intron|PDGFRA_ENST00000508170.1_3'UTR	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	217	Ig-like C2-type 3.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	p.E217V(1)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	CTGGATCTAGAAATGGAAGCT	0.383000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			5	67					0	0	0.000602	0	0
ATP6V0A4	50617	broad.mit.edu	37	7	138455936	138455936	+	Silent	SNP	C	C	G			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr7:138455936C>G	ENST00000310018.2	-	3	339	c.57G>C	c.(55-57)gtG>gtC	p.V19V	ATP6V0A4_ENST00000483139.1_5'UTR|ATP6V0A4_ENST00000353492.4_Silent_p.V19V|ATP6V0A4_ENST00000393054.1_Silent_p.V19V	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	19					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity	p.V19V(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						ATGCAGCTTCCACCTGGAGAA	0.478000													45	263					0	0	0.013114	0	0
DNAH11	8701	broad.mit.edu	37	7	21646324	21646324	+	Silent	SNP	A	A	C			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr7:21646324A>C	ENST00000328843.6	+	20	3856	c.3825A>C	c.(3823-3825)gcA>gcC	p.A1275A	DNAH11_ENST00000409508.3_Silent_p.A1275A			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1275	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.A1275A(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GATTTAATGCAGAAAATCCAT	0.328000									Kartagener syndrome				12	21					0	0	0.002450	0	0
ITGB1BP2	26548	broad.mit.edu	37	X	70521703	70521703	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chrX:70521703C>G	ENST00000373829.3	+	1	120	c.47C>G	c.(46-48)cCt>cGt	p.P16R	ITGB1BP2_ENST00000538820.1_5'UTR	NM_012278.1	NP_036410.1	Q9UKP3	ITBP2_HUMAN	integrin beta 1 binding protein (melusin) 2	16	CHORD 1.|Cys-rich.				muscle organ development|signal transduction		SH3 domain binding	p.P16R(1)		breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)	14	Renal(35;0.156)					CACTTTGACCCTAATACCAAC	0.532000													3	82					0	0	0.004672	0	0
RP11-24M17.5	0	broad.mit.edu	37	15	76074505	76074505	+	RNA	SNP	G	G	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr15:76074505G>T	ENST00000395215.3	+	0	684																		p.V215L(1)									GAACGCACACGTGACACAGGT	0.577000													9	18					1.12685e-05	1.32821e-05	0.004482	1	0
ZNF831	128611	broad.mit.edu	37	20	57829644	57829644	+	Missense_Mutation	SNP	T	T	C			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr20:57829644T>C	ENST00000371030.2	+	5	4880	c.4880T>C	c.(4879-4881)gTg>gCg	p.V1627A		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1627						intracellular	nucleic acid binding|zinc ion binding	p.V1627A(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)					AAAGATTCTGTGGTTCCTTCT	0.488000													31	62					0	0	0.009535	0	0
SYCE1	93426	broad.mit.edu	37	10	135369500	135369500	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr10:135369500G>T	ENST00000368517.3	-	9	610	c.472C>A	c.(472-474)Cag>Aag	p.Q158K	SYCE1_ENST00000343131.5_Missense_Mutation_p.Q194K|SYCE1_ENST00000432597.2_Missense_Mutation_p.Q158K|SPRN_ENST00000541506.1_Intron	NM_130784.2	NP_570140.1	Q8N0S2	SYCE1_HUMAN	synaptonemal complex central element protein 1	194					cell division	central element		p.Q158K(1)|p.Q194K(1)		breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1)	19		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		TTGAGCAGCTGCTCCTTGCTG	0.582000													35	64					1.42033e-22	2.46047e-22	0.004289	1	0
OTC	5009	broad.mit.edu	37	X	38226663	38226663	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chrX:38226663G>C	ENST00000039007.4	+	2	349	c.197G>C	c.(196-198)aGg>aCg	p.R66T	OTC_ENST00000488812.1_3'UTR|TM4SF2_ENST00000465127.1_Intron	NM_000531.5	NP_000522.3	P00480	OTC_HUMAN	ornithine carbamoyltransferase	66					arginine biosynthetic process|urea cycle	mitochondrial matrix|ornithine carbamoyltransferase complex	ornithine carbamoyltransferase activity	p.R66T(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22					L-Citrulline(DB00155)|L-Ornithine(DB00129)	CTGAAATTTAGGATAAAACAG	0.373000													27	56					0	0	0.013726	0	0
MAP6	4135	broad.mit.edu	37	11	75298562	75298562	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr11:75298562C>G	ENST00000304771.3	-	4	2734	c.1984G>C	c.(1984-1986)Ggt>Cgt	p.G662R	CTD-2530H12.4_ENST00000527803.1_RNA|MAP6_ENST00000526740.1_Missense_Mutation_p.G333R	NM_033063.1	NP_149052.1	Q96JE9	MAP6_HUMAN	microtubule-associated protein 6	662	Pro-rich.					Golgi apparatus|microtubule|perinuclear region of cytoplasm	calmodulin binding	p.G662R(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19	Ovarian(111;0.11)					ACCATGGAACCTTGATTCTTT	0.498000													18	187					0	0	0.004990	0	0
MDGA1	266727	broad.mit.edu	37	6	37623622	37623622	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr6:37623622C>T	ENST00000434837.2	-	4	1611	c.433G>A	c.(433-435)Ggc>Agc	p.G145S	MDGA1_ENST00000297153.7_Missense_Mutation_p.G145S|MDGA1_ENST00000505425.1_Missense_Mutation_p.G145S	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	145	Ig-like 2.				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane		p.G145S(1)		central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						TAGAAGTTGCCTCGCACATCG	0.602000													12	20					0	0	0.003163	0	0
MYO9B	4650	broad.mit.edu	37	19	17296811	17296811	+	Splice_Site	SNP	G	G	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr19:17296811G>T	ENST00000595618.1	+	18	2729		c.e18+1		MYO9B_ENST00000594824.1_Splice_Site|MYO9B_ENST00000397274.2_Splice_Site	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN	myosin IXB						actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity	p.?(2)		breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						TGCTGAAAAGGTGAGTTTCTC	0.552000													25	47					1.08971e-26	1.96206e-26	0.006320	1	0
CDH2	1000	broad.mit.edu	37	18	25573585	25573585	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr18:25573585G>A	ENST00000269141.3	-	8	1460	c.1037C>T	c.(1036-1038)aCg>aTg	p.T346M	CDH2_ENST00000399380.3_Missense_Mutation_p.T315M	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	346	Cadherin 2.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding	p.T346M(1)		NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						AATTATTAACGTATACTGTTG	0.373000													55	68					0	0	0.014410	0	0
RHOBTB1	9886	broad.mit.edu	37	10	62648365	62648365	+	Missense_Mutation	SNP	A	A	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr10:62648365A>T	ENST00000337910.5	-	6	1398	c.1061T>A	c.(1060-1062)gTg>gAg	p.V354E	RHOBTB1_ENST00000357917.4_Missense_Mutation_p.V354E	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	354	BTB 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding	p.V354E(1)		endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					CAGAGCCTCCACCAGGCTCTT	0.577000													58	84					0	0	0.014410	0	0
FANCM	57697	broad.mit.edu	37	14	45645710	45645710	+	Silent	SNP	T	T	C			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr14:45645710T>C	ENST00000267430.5	+	14	3838	c.3753T>C	c.(3751-3753)gaT>gaC	p.D1251D	FANCM_ENST00000542564.2_Silent_p.D1225D	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1251					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding	p.D1251D(1)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						ATACATCAGATAGCAATAGAC	0.328000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				24	52					0	0	0.002780	0	0
LAX1	54900	broad.mit.edu	37	1	203743121	203743121	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr1:203743121C>T	ENST00000442561.2	+	5	899	c.509C>T	c.(508-510)tCg>tTg	p.S170L	LAX1_ENST00000367215.1_3'UTR|LAX1_ENST00000367217.5_Missense_Mutation_p.S154L	NM_017773.3	NP_060243.2	Q8IWV1	LAX1_HUMAN	lymphocyte transmembrane adaptor 1	170					B cell activation|immune response|inactivation of MAPK activity|intracellular signal transduction|negative regulation of T cell activation	Golgi apparatus|integral to membrane|plasma membrane	protein kinase binding|SH2 domain binding	p.S170L(1)		central_nervous_system(2)|endometrium(3)|large_intestine(2)|lung(13)|prostate(1)|stomach(1)|urinary_tract(2)	24	all_cancers(21;0.0915)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CTCACTCCCTCGGCACACTGC	0.532000													38	45					0	0	0.004878	0	0
RTP2	344892	broad.mit.edu	37	3	187416656	187416656	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr3:187416656C>A	ENST00000358241.1	-	2	736	c.308G>T	c.(307-309)cGg>cTg	p.R103L		NM_001004312.2	NP_001004312.2	Q5QGT7	RTP2_HUMAN	receptor (chemosensory) transporter protein 2	103					protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding	p.R103L(1)		large_intestine(3)|lung(14)|skin(1)	18	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0515)		CTCGTCCAGCCGCGCCGTGCC	0.652000													14	7					3.27435e-08	4.31963e-08	0.002450	1	0
OR5T1	390155	broad.mit.edu	37	11	56043777	56043777	+	Silent	SNP	C	C	G			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr11:56043777C>G	ENST00000313033.2	+	1	749	c.663C>G	c.(661-663)gtC>gtG	p.V221V		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	221					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V221V(2)		NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					TTGAGATAGTCACTATCCTGA	0.418000													61	216					0	0	0.014410	0	0
ADAM23	8745	broad.mit.edu	37	2	207436511	207436511	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr2:207436511G>T	ENST00000264377.3	+	17	1955	c.1627G>T	c.(1627-1629)Ggg>Tgg	p.G543W	ADAM23_ENST00000374415.3_Missense_Mutation_p.G543W|ADAM23_ENST00000374416.1_Missense_Mutation_p.G543W	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	543	Disintegrin.				cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	p.G543W(2)		NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		CTGCAGCGACGGGCCCTGCTG	0.443000													23	37					2.21704e-12	3.2637e-12	0.002780	1	0
EPHB6	2051	broad.mit.edu	37	7	142566876	142566876	+	Silent	SNP	G	G	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr7:142566876G>T	ENST00000392957.2	+	16	3220	c.2433G>T	c.(2431-2433)gtG>gtT	p.V811V	EPHB6_ENST00000411471.2_Silent_p.V534V|EPHB6_ENST00000442129.1_Silent_p.V811V	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	811	Protein kinase.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	p.V796V(1)		NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					TGTGCAAGGTGGCCCGTCTTG	0.637000													41	22					2.00842e-17	3.34412e-17	0.010771	1	0
SDCCAG8	10806	broad.mit.edu	37	1	243652408	243652408	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr1:243652408G>T	ENST00000366541.3	+	17	2196	c.2078G>T	c.(2077-2079)aGc>aTc	p.S693I	SDCCAG8_ENST00000343783.6_Missense_Mutation_p.S548I|AKT3_ENST00000336199.5_Intron|SDCCAG8_ENST00000355875.4_Missense_Mutation_p.S650I	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	693	Mediates interaction with OFD1.|Sufficient for homodimerization (By similarity).				establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation	cell-cell junction|centriole|cytosol	protein binding	p.S693I(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		GAGAGGCAGAGCCTGTCGGAA	0.622000													8	15					1.12685e-05	1.32821e-05	0.004482	1	0
IKZF2	22807	broad.mit.edu	37	2	213886733	213886733	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr2:213886733C>G	ENST00000457361.1	-	6	864	c.696G>C	c.(694-696)caG>caC	p.Q232H	IKZF2_ENST00000342002.2_Missense_Mutation_p.Q238H|IKZF2_ENST00000451136.2_Intron|IKZF2_ENST00000421754.2_Missense_Mutation_p.Q206H|IKZF2_ENST00000374327.4_Missense_Mutation_p.Q87H|IKZF2_ENST00000434687.1_Missense_Mutation_p.Q232H|IKZF2_ENST00000374319.4_Missense_Mutation_p.Q206H|IKZF2_ENST00000413091.3_Missense_Mutation_p.Q232H	NM_016260.2	NP_057344.2	Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	232					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q232H(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		GACTCATGACCTGCCCAGCAG	0.458000													31	60					0	0	0.009535	0	0
SLC22A7	10864	broad.mit.edu	37	6	43267478	43267478	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr6:43267478G>T	ENST00000372585.5	+	4	712	c.617G>T	c.(616-618)gGc>gTc	p.G206V	SLC22A7_ENST00000372574.3_Missense_Mutation_p.G204V|SLC22A7_ENST00000372589.3_Missense_Mutation_p.G204V|SLC22A7_ENST00000487175.1_3'UTR	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	206						basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity	p.G206V(1)		NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			ACCCTTACTGGCTCAGCCCTG	0.577000													25	44					1.1804e-14	1.8701e-14	0.003954	1	0
ELTD1	64123	broad.mit.edu	37	1	79470904	79470904	+	Splice_Site	SNP	A	A	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr1:79470904A>T	ENST00000370742.3	-	2	86	c.22_splice	c.e2-1	p.V8_splice		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	8					neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.V8E(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)		GGAAAAAACCACTAAATAAAA	0.318000													3	15					0	0	0.004672	0	0
SLFN12L	100506736	broad.mit.edu	37	17	33849347	33849347	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr17:33849347G>A	ENST00000361112.4	-	2	930	c.52C>T	c.(52-54)Cac>Tac	p.H18Y				Q6IEE8	SN12L_HUMAN	schlafen family member 12-like	0						integral to membrane	ATP binding	p.H18Y(1)		breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1)	16						AGAATTCTGTGTGCCTCACAG	0.393000													7	42					0	0	0.001984	0	0
OR5M3	219482	broad.mit.edu	37	11	56237320	56237320	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr11:56237320G>C	ENST00000312240.2	-	1	694	c.654C>G	c.(652-654)ttC>ttG	p.F218L		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	218					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F218L(1)		NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					CAATGAGGATGAATAAGTAAG	0.428000													10	67					0	0	0.010729	0	0
BAG6	7917	broad.mit.edu	37	6	31616977	31616977	+	Splice_Site	SNP	G	G	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr6:31616977G>T	ENST00000404765.2	-	4	711	c.423_splice	c.e4+1	p.P141_splice	BAG6_ENST00000439687.2_Splice_Site_p.P141_splice|BAG6_ENST00000362049.6_Splice_Site_p.P141_splice|BAG6_ENST00000375976.4_Splice_Site_p.P141_splice|BAG6_ENST00000211379.5_Splice_Site_p.P141_splice|BAG6_ENST00000375964.6_Splice_Site_p.P141_splice			P46379	BAG6_HUMAN	BCL2-associated athanogene 6	141					apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding	p.P141H(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						TAAGCTTACAGGAAGATTGAA	0.512000													6	151					8.12818e-05	9.33992e-05	0.001984	1	0
SNAP25	6616	broad.mit.edu	37	20	10280043	10280043	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr20:10280043G>T	ENST00000254976.2	+	7	746	c.535G>T	c.(535-537)Gac>Tac	p.D179Y	SNAP25-AS1_ENST00000421143.2_RNA|SNAP25_ENST00000304886.2_Missense_Mutation_p.D179Y|SNAP25_ENST00000495883.1_3'UTR|SNAP25-AS1_ENST00000453544.1_RNA	NM_130811.2	NP_570824.1	P60880	SNP25_HUMAN	synaptosomal-associated protein, 25kDa	179	t-SNARE coiled-coil homology 2.				energy reserve metabolic process|glutamate secretion|neurotransmitter uptake|synaptic vesicle docking involved in exocytosis	cell junction|growth cone|perinuclear region of cytoplasm|synapse|synaptosome		p.D179Y(2)		endometrium(1)|large_intestine(2)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	18					Botulinum Toxin Type A(DB00083)	TCGCCAGATCGACAGGATCAT	0.512000													20	29					3.99206e-14	6.22398e-14	0.007413	1	0
HIST1H2AH	85235	broad.mit.edu	37	6	27115267	27115267	+	Silent	SNP	G	G	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr6:27115267G>A	ENST00000377459.1	+	1	407	c.360G>A	c.(358-360)aaG>aaA	p.K120K		NM_080596.1	NP_542163.1	Q96KK5	H2A1H_HUMAN	histone cluster 1, H2ah	120					nucleosome assembly	nucleosome|nucleus	DNA binding	p.K120K(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|prostate(1)|skin(1)	12						TGCCTAAGAAGACTGAGAGCC	0.522000													15	67					0	0	0.003163	0	0
ABCA13	154664	broad.mit.edu	37	7	48443428	48443428	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr7:48443428C>A	ENST00000435803.1	+	39	12046	c.12022C>A	c.(12022-12024)Cct>Act	p.P4008T		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4008	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity	p.P4008T(1)|p.P3953T(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TGGGGTGGACCCTTGCTCCCG	0.567000													11	36					4.68919e-08	6.16242e-08	0.008291	1	0
N4BP2	55728	broad.mit.edu	37	4	40115128	40115128	+	Splice_Site	SNP	G	G	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr4:40115128G>T	ENST00000261435.6	+	7	2080	c.1664_splice	c.e7+1	p.R555_splice		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	555						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding	p.R555M(1)		breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						GAACTTGCAAGGTAAAACTTG	0.363000													63	134					2.92391e-54	5.52562e-54	0.014410	1	0
PRMT1	3276	broad.mit.edu	37	19	50189881	50189881	+	Silent	SNP	G	G	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr19:50189881G>T	ENST00000532489.1	+	10	1298	c.792G>T	c.(790-792)acG>acT	p.T264T	PRMT1_ENST00000454376.2_Silent_p.T310T|PRMT1_ENST00000391851.4_Silent_p.T292T			Q8WUW5	Q8WUW5_HUMAN	protein arginine methyltransferase 1	291						cytoplasm	protein methyltransferase activity	p.T286T(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(2)	12		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00103)|GBM - Glioblastoma multiforme(134;0.012)		CCCCGTACACGCACTGGAAGC	0.677000													16	18					1.15088e-07	1.48963e-07	0.004007	1	0
KRTAP19-3	337970	broad.mit.edu	37	21	31864067	31864067	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr21:31864067G>A	ENST00000334063.4	-	1	208	c.209C>T	c.(208-210)tCa>tTa	p.S70L		NM_181609.3	NP_853640.1	Q7Z4W3	KR193_HUMAN	keratin associated protein 19-3	70						intermediate filament		p.S70L(1)		large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	9						TCCATAGTATGATGGGCGGTA	0.483000													96	130					0	0	0.014410	0	0
FERD3L	222894	broad.mit.edu	37	7	19184872	19184872	+	Silent	SNP	G	G	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr7:19184872G>T	ENST00000275461.3	-	1	172	c.114C>A	c.(112-114)tcC>tcA	p.S38S	AC003986.5_ENST00000452700.1_RNA	NM_152898.2	NP_690862.1	Q96RJ6	FER3L_HUMAN	Fer3-like bHLH transcription factor	38					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.S38S(1)		breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	35						GGTCCCCCAAGGAGACCCCGG	0.662000													14	35					2.48551e-13	3.77225e-13	0.004990	1	0
SSTR1	6751	broad.mit.edu	37	14	38679167	38679167	+	Silent	SNP	C	C	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr14:38679167C>A	ENST00000267377.2	+	3	1190	c.573C>A	c.(571-573)ccC>ccA	p.P191P		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	191					digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity	p.P191P(1)		breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)	TCATCCTGCCCATCGTGGTCT	0.657000													11	40					7.03913e-09	9.6192e-09	0.013537	1	0
ACSL4	2182	broad.mit.edu	37	X	108911376	108911376	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chrX:108911376C>A	ENST00000340800.2	-	12	1896	c.1392G>T	c.(1390-1392)caG>caT	p.Q464H	ACSL4_ENST00000469796.2_Missense_Mutation_p.Q464H|ACSL4_ENST00000348502.6_Missense_Mutation_p.Q423H	NM_022977.2	NP_075266.1	O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	464					fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity	p.Q464H(1)		breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Troglitazone(DB00197)	GTCCATAACCCTGGCCAATTG	0.473000													6	114					8.12818e-05	9.33992e-05	0.001984	1	0
OPN5	221391	broad.mit.edu	37	6	47754282	47754282	+	Silent	SNP	C	C	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr6:47754282C>T	ENST00000489301.2	+	2	247	c.162C>T	c.(160-162)gtC>gtT	p.V54V	OPN5_ENST00000371211.2_Silent_p.V54V|OPN5_ENST00000393699.2_Silent_p.V54V			Q6U736	OPN5_HUMAN	opsin 5	54					phototransduction|protein-chromophore linkage|visual perception	integral to membrane	G-protein coupled receptor activity|photoreceptor activity	p.V54V(1)		endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						ATGGATATGTCCTTTACATGT	0.368000													24	66					0	0	0.003330	0	0
GLI2	2736	broad.mit.edu	37	2	121708821	121708821	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr2:121708821C>A	ENST00000452319.1	+	4	317	c.257C>A	c.(256-258)cCc>cAc	p.P86H	GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000314490.11_5'UTR|GLI2_ENST00000361492.4_Missense_Mutation_p.P86H			P10070	GLI2_HUMAN	GLI family zinc finger 2	86					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P86H(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CTCTGCAGGCCCCCTGCCCTC	0.622000													47	116					3.76343e-11	5.38979e-11	0.014410	1	0
XKRX	402415	broad.mit.edu	37	X	100183084	100183084	+	Silent	SNP	G	G	C			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chrX:100183084G>C	ENST00000328526.5	-	1	814	c.249C>G	c.(247-249)acC>acG	p.T83T	XKRX_ENST00000372956.2_Silent_p.T70T|XKRX_ENST00000468904.1_Silent_p.T70T	NM_212559.2	NP_997724.2	Q6PP77	XKR2_HUMAN	XK, Kell blood group complex subunit-related, X-linked	70						integral to membrane|plasma membrane		p.T83T(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(3)	22						AGAAAGAAAAGGTGTATGTCA	0.383000													52	66					0	0	0.014410	0	0
ZFC3H1	196441	broad.mit.edu	37	12	72026208	72026208	+	Silent	SNP	C	C	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr12:72026208C>A	ENST00000378743.3	-	15	3262	c.2904G>T	c.(2902-2904)cgG>cgT	p.R968R		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	968					RNA processing	intracellular	metal ion binding	p.R968R(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GCTTTTGTAACCGTCTTTTCT	0.378000													55	43					3.50607e-19	5.895e-19	0.014410	1	0
PLXNA4	91584	broad.mit.edu	37	7	131913210	131913210	+	Silent	SNP	C	C	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr7:131913210C>A	ENST00000359827.3	-	6	2585	c.1623G>T	c.(1621-1623)cgG>cgT	p.R541R	PLXNA4_ENST00000321063.4_Silent_p.R541R			Q9HCM2	PLXA4_HUMAN	plexin A4	541	PSI 1.					integral to membrane|intracellular|plasma membrane		p.R541R(2)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						ACCGCTCACACCGCTCCTTCC	0.597000													17	32					8.00594e-06	9.56807e-06	0.007413	1	0
NAALADL2	254827	broad.mit.edu	37	3	175520882	175520882	+	Missense_Mutation	SNP	A	A	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr3:175520882A>T	ENST00000454872.1	+	14	2407	c.2279A>T	c.(2278-2280)gAg>gTg	p.E760V		NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	760					proteolysis	integral to membrane	peptidase activity	p.E760V(1)		central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		GCATCAAATGAGACCCTTCAA	0.433000													26	24					0	0	0.003954	0	0
ABHD13	84945	broad.mit.edu	37	13	108881888	108881888	+	Nonsense_Mutation	SNP	G	G	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr13:108881888G>T	ENST00000375898.3	+	2	623	c.322G>T	c.(322-324)Gga>Tga	p.G108*		NM_032859.2	NP_116248.2	Q7L211	ABHDD_HUMAN	abhydrolase domain containing 13	108						integral to membrane	hydrolase activity	p.G108*(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					ACGATACACTGGAGACAATTC	0.388000													10	41					1.76689e-08	2.35357e-08	0.006214	1	0
OR51V1	283111	broad.mit.edu	37	11	5221548	5221548	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr11:5221548G>T	ENST00000321255.1	-	1	382	c.383C>A	c.(382-384)gCc>gAc	p.A128D		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	128					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A128D(1)		endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCGGTCAAAGGCCATAGTGAG	0.453000													11	24					0.000673444	0.000752415	0.008291	1	0
VAX1	11023	broad.mit.edu	37	10	118897512	118897512	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr10:118897512G>C	ENST00000277905.2	-	1	300	c.56C>G	c.(55-57)gCc>gGc	p.A19G	VAX1_ENST00000369206.5_Missense_Mutation_p.A19G	NM_199131.2	NP_954582.1	Q5SQQ9	VAX1_HUMAN	ventral anterior homeobox 1	19						nucleus	sequence-specific DNA binding	p.A19G(2)		endometrium(1)|large_intestine(1)|lung(8)|ovary(2)	12				all cancers(201;0.0108)		CGAGACCCGGGCAGCCTCGGC	0.562000													9	39					0	0	0.004482	0	0
MMP13	4322	broad.mit.edu	37	11	102822815	102822815	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr11:102822815G>C	ENST00000260302.3	-	5	753	c.725C>G	c.(724-726)cCt>cGt	p.P242R	MMP13_ENST00000340273.4_Missense_Mutation_p.P242R	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	242					collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding	p.P242R(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)		GGTGTAGATAGGAAACATGAG	0.453000													63	174					0	0	0.014410	0	0
AHNAK2	113146	broad.mit.edu	37	14	105413167	105413167	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr14:105413167G>T	ENST00000333244.5	-	7	8740	c.8621C>A	c.(8620-8622)gCt>gAt	p.A2874D	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2874						nucleus		p.A2874D(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CACCTGGCCAGCCTGGACCTC	0.627000													63	303					4.17052e-40	7.77439e-40	0.014410	1	0
SIM1	6492	broad.mit.edu	37	6	100838543	100838543	+	Silent	SNP	G	G	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr6:100838543G>T	ENST00000369208.3	-	12	2777	c.1995C>A	c.(1993-1995)cgC>cgA	p.R665R	SIM1_ENST00000262901.4_Silent_p.R665R			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	665	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.R665R(1)		breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		ATTTTGAAATGCGATCCGAAT	0.453000													71	173					3.25985e-27	5.88489e-27	0.014410	1	0
GRIN2B	2904	broad.mit.edu	37	12	13716296	13716296	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr12:13716296C>A	ENST00000279593.3	-	13	4085	c.3876G>T	c.(3874-3876)aaG>aaT	p.K1292N		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1292					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.K1292N(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TCCGGTTCTTCTTCTGGGCCT	0.622000													41	83					1.15183e-24	2.04704e-24	0.009718	1	0
FAM114A2	10827	broad.mit.edu	37	5	153390880	153390880	+	Splice_Site	SNP	C	C	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr5:153390880C>A	ENST00000351797.4	-	9	990	c.913_splice	c.e9-1	p.G305_splice	FAM114A2_ENST00000520667.1_Splice_Site_p.G305_splice|FAM114A2_ENST00000520313.1_Splice_Site_p.G235_splice|FAM114A2_ENST00000522858.1_Splice_Site_p.G305_splice	NM_018691.2	NP_061161.2	Q9NRY5	F1142_HUMAN	family with sequence similarity 114, member A2	305							purine nucleotide binding	p.G305V(1)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)|urinary_tract(1)	18						ATCTTCATCCCCTAAAAAACC	0.468000													20	19					2.94398e-08	3.89879e-08	0.007413	1	0
GRM1	2911	broad.mit.edu	37	6	146747740	146747740	+	Silent	SNP	A	A	G			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr6:146747740A>G	ENST00000392299.2	+	9	3176	c.2706A>G	c.(2704-2706)gcA>gcG	p.A902A	GRM1_ENST00000282753.1_Intron|GRM1_ENST00000492807.2_Silent_p.A902A|GRM1_ENST00000355289.4_Intron|GRM1_ENST00000361719.2_Intron|GRM1_ENST00000507907.1_Silent_p.A902A			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	0					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	p.A902A(1)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	GTCCGTCGGCACATGTGCAGC	0.488000													6	9					0	0	0.001984	0	0
CD248	57124	broad.mit.edu	37	11	66084155	66084155	+	Missense_Mutation	SNP	G	G	T	rs140616335	byFrequency	TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr11:66084155G>T	ENST00000311330.3	-	1	360	c.344C>A	c.(343-345)aCc>aAc	p.T115N	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	115	C-type lectin.					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding	p.T115N(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26					Cefalotin(DB00456)	GGCCCAGTTGGTGAAAGCCGT	0.716000													13	28					1.49906e-05	1.75188e-05	0.002450	1	0
DST	667	broad.mit.edu	37	6	56371508	56371508	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr6:56371508C>A	ENST00000370754.5	-	76	19225	c.19226G>T	c.(19225-19227)tGt>tTt	p.C6409F	DST_ENST00000370769.4_Missense_Mutation_p.C6231F|DST_ENST00000244364.6_Missense_Mutation_p.C3817F|DST_ENST00000361203.3_Missense_Mutation_p.C6120F|DST_ENST00000340834.4_5'UTR|DST_ENST00000446842.2_Missense_Mutation_p.C5905F|DST_ENST00000421834.2_Missense_Mutation_p.C4143F|DST_ENST00000370788.2_Missense_Mutation_p.C4034F|DST_ENST00000312431.6_3'UTR			Q03001	DYST_HUMAN	dystonin	6229					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.C6231F(1)|p.C3817F(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)			AGGCTCCCCACATGCCGCAAT	0.373000													34	73					8.4185e-14	1.30658e-13	0.012213	1	0
AMICA1	120425	broad.mit.edu	37	11	118081381	118081381	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr11:118081381C>A	ENST00000292067.7	-	3	656	c.215G>T	c.(214-216)gGg>gTg	p.G72V	AMICA1_ENST00000526620.1_Missense_Mutation_p.G43V|AMICA1_ENST00000533261.1_Missense_Mutation_p.G82V|AMICA1_ENST00000356289.5_Missense_Mutation_p.G82V	NM_153206.2	NP_694938.2	Q86YT9	JAML1_HUMAN	adhesion molecule, interacts with CXADR antigen 1	82	Ig-like V-type 1.				blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	cell junction|integral to membrane		p.G72V(1)		central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2)	20	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		CTGGAAGCGCCCAATAGGCAC	0.498000													34	93					1.06647e-15	1.72955e-15	0.003755	1	0
ANKK1	255239	broad.mit.edu	37	11	113266829	113266829	+	Silent	SNP	C	C	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr11:113266829C>T	ENST00000303941.3	+	5	817	c.723C>T	c.(721-723)ggC>ggT	p.G241G		NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	241	Protein kinase.						ATP binding|protein serine/threonine kinase activity	p.G241G(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		TGGCGGCAGGCATGCGGCCCT	0.597000													14	57					0	0	0.001855	0	0
TENM1	10178	broad.mit.edu	37	X	123515010	123515010	+	Silent	SNP	G	G	C			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chrX:123515010G>C	ENST00000422452.2	-	32	7638	c.7575C>G	c.(7573-7575)gtC>gtG	p.V2525V	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000371130.3_Silent_p.V2518V	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1									p.V2520V(1)									AAACAGAAGGGACAGCAGCAA	0.458000													15	146					0	0	0.003163	0	0
ALK	238	broad.mit.edu	37	2	29498008	29498008	+	Silent	SNP	G	G	C			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr2:29498008G>C	ENST00000389048.3	-	11	2904	c.1998C>G	c.(1996-1998)ccC>ccG	p.P666P	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	666					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.P666P(2)	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	AATTTTCCCCGGGTTTCAGCT	0.463000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				13	54					0	0	0.003163	0	0
STARD13	90627	broad.mit.edu	37	13	33686964	33686964	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr13:33686964C>T	ENST00000336934.5	-	9	2502	c.2386G>A	c.(2386-2388)Gtc>Atc	p.V796I	STARD13_ENST00000399365.3_Missense_Mutation_p.V678I|STARD13_ENST00000255486.4_Missense_Mutation_p.V788I	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	796	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding	p.V796I(2)		breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		AAGTTGACGACGTCGTTCAGG	0.542000													58	74					0	0	0.014410	0	0
HOXB4	3214	broad.mit.edu	37	17	46654118	46654118	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr17:46654118G>T	ENST00000332503.5	-	2	2513	c.722C>A	c.(721-723)cCt>cAt	p.P241H	HOXB3_ENST00000552000.2_Intron|HOXB3_ENST00000498678.1_Intron|HOXB3_ENST00000476342.1_Intron|HOXB3_ENST00000472863.1_Intron|HOXB3_ENST00000460160.1_Intron|HOXB3_ENST00000489475.1_Intron|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000465120.3_Intron	NM_024015.4	NP_076920.1	P17483	HXB4_HUMAN	homeobox B4	241						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P241H(1)		central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2)	9						GGGCCGGCCAGGGGGCCCTCC	0.682000													10	39					7.48243e-07	9.401e-07	0.006214	1	0
SCRN3	79634	broad.mit.edu	37	2	175268882	175268882	+	Missense_Mutation	SNP	G	G	A	rs140532560		TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr2:175268882G>A	ENST00000272732.6	+	5	675	c.593G>A	c.(592-594)cGg>cAg	p.R198Q	SCRN3_ENST00000409673.3_Missense_Mutation_p.R191Q	NM_001193528.1|NM_024583.4	NP_001180457.1|NP_078859.2	Q0VDG4	SCRN3_HUMAN	secernin 3	198					proteolysis		dipeptidase activity	p.R191Q(1)|p.R198Q(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|urinary_tract(3)	13			OV - Ovarian serous cystadenocarcinoma(117;0.229)			AAGATTGCCCGGGAACACCCA	0.398000													4	39					0	0	0.000602	0	0
ZNF560	147741	broad.mit.edu	37	19	9578911	9578911	+	Nonsense_Mutation	SNP	T	T	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr19:9578911T>A	ENST00000301480.4	-	10	925	c.712A>T	c.(712-714)Aga>Tga	p.R238*		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	238					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R238*(1)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						GTGTTGCCTCTATTTTGAGTA	0.388000													41	38					0	0	0.006999	0	0
CCDC120	90060	broad.mit.edu	37	X	48921447	48921447	+	Missense_Mutation	SNP	A	A	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chrX:48921447A>T	ENST00000376396.3	+	5	458	c.239A>T	c.(238-240)cAg>cTg	p.Q80L	CCDC120_ENST00000603986.1_Missense_Mutation_p.Q115L|CCDC120_ENST00000597275.1_Missense_Mutation_p.Q80L|CCDC120_ENST00000496529.2_Missense_Mutation_p.Q80L|CCDC120_ENST00000536628.2_Missense_Mutation_p.Q68L|CCDC120_ENST00000422185.2_Missense_Mutation_p.Q80L	NM_001271835.1|NM_001271836.1|NM_033626.2	NP_001258764.1|NP_001258765.1|NP_296375.1	Q96HB5	CC120_HUMAN	coiled-coil domain containing 120	80							protein binding	p.Q80L(1)		breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14						GAACGGCCCCAGTTGGTCCGC	0.667000													4	11					0	0	0.009096	0	0
DDX26B	203522	broad.mit.edu	37	X	134680668	134680668	+	Silent	SNP	A	A	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chrX:134680668A>T	ENST00000370752.4	+	5	805	c.471A>T	c.(469-471)ctA>ctT	p.L157L	DDX26B_ENST00000493637.1_3'UTR	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	157	VWFA.							p.L157L(2)		large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					GAAGTGAACTAACCAAAGAAC	0.433000													90	96					0	0	0.014410	0	0
EVC	2121	broad.mit.edu	37	4	5750028	5750028	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr4:5750028G>T	ENST00000382674.2	+	8	1277	c.1093G>T	c.(1093-1095)Gct>Tct	p.A365S	EVC_ENST00000509451.1_Missense_Mutation_p.A365S|EVC_ENST00000264956.6_Missense_Mutation_p.A365S			P57679	EVC_HUMAN	Ellis van Creveld syndrome	365					muscle organ development	integral to membrane		p.A365S(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				GGAGCTGCAGGCTCTGGTAAT	0.478000													12	32					0.000151284	0.000172681	0.001855	1	0
TMEM161B	153396	broad.mit.edu	37	5	87502892	87502892	+	Silent	SNP	T	T	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr5:87502892T>A	ENST00000296595.6	-	6	676	c.552A>T	c.(550-552)gcA>gcT	p.A184A	TMEM161B_ENST00000512429.1_Silent_p.A173A|TMEM161B_ENST00000511218.1_Silent_p.A2A|TMEM161B_ENST00000509387.1_Silent_p.A57A|TMEM161B_ENST00000506536.1_Silent_p.A2A|TMEM161B_ENST00000514135.1_Silent_p.A184A	NM_153354.3	NP_699185.1	Q8NDZ6	T161B_HUMAN	transmembrane protein 161B	184						integral to membrane		p.A184A(1)		endometrium(4)|large_intestine(3)|lung(9)|skin(3)|upper_aerodigestive_tract(1)	20		all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26)		CAATCAACACTGCCATTGCTT	0.289000													9	23					0	0	0.010729	0	0
STIP1	10963	broad.mit.edu	37	11	63965045	63965045	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr11:63965045G>C	ENST00000358794.5	+	7	1574	c.1021G>C	c.(1021-1023)Gaa>Caa	p.E341Q	STIP1_ENST00000538945.1_Missense_Mutation_p.E270Q|STIP1_ENST00000305218.4_Missense_Mutation_p.E294Q			P31948	STIP1_HUMAN	stress-induced-phosphoprotein 1	294					axon guidance|response to stress	Golgi apparatus|nucleus		p.E294Q(1)		endometrium(4)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(1)|skin(1)	27						AGAAAACCGAGAAGACTATCG	0.498000													7	25					0	0	0.001984	0	0
OR2AK2	391191	broad.mit.edu	37	1	248128777	248128777	+	Silent	SNP	C	C	A			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr1:248128777C>A	ENST00000366480.3	+	1	243	c.144C>A	c.(142-144)acC>acA	p.T48T	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	48					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T48T(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			TCATTGCCACCCTCTTTACAG	0.428000													24	247					4.26978e-12	6.20565e-12	0.003330	1	0
HRNR	388697	broad.mit.edu	37	1	152187509	152187509	+	Frame_Shift_Del	DEL	C	C	-			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr1:152187509delC	ENST00000368801.2	-	3	6671	c.6596delG	c.(6595-6597)gcfs	p.G2199fs	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2199					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)			CCCATGTTGGCCGTGGCTGGA	0.627													22	1146	---	---	---	---					
OTOP1	133060	broad.mit.edu	37	4	4204225	4204229	+	Frame_Shift_Del	DEL	TTGAG	TTGAG	-			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr4:4204225_4204229delTTGAG	ENST00000296358.4	-	4	700_704	c.676_680delCTCAA	c.(676-681)tfs	p.LN226fs		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	226					biomineral tissue development	extracellular space|integral to membrane		p.L226fs*1(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CTTGTGCTCATTGAGTTGGTGCTTT	0.502													7	170	---	---	---	---					
UNC5C	8633	broad.mit.edu	37	4	96090406	96090407	+	Frame_Shift_Ins	INS	-	-	CC			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr4:96090406_96090407insCC	ENST00000453304.1	-	16	3122_3123	c.2774_2775insGG	c.(2773-2775)tgcfs	p.C925fs		NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	925	Death.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		CTTCTGCTGCTAAGGACACCAC	0.510													42	122	---	---	---	---					
DST	667	broad.mit.edu	37	6	56510720	56510720	+	Frame_Shift_Del	DEL	C	C	-			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr6:56510720delC	ENST00000370754.5	-	14	1622	c.1623delG	c.(1621-1623)ggfs	p.G541fs	DST_ENST00000361203.3_Frame_Shift_Del_p.G363fs|DST_ENST00000370769.4_Frame_Shift_Del_p.G363fs|DST_ENST00000421834.2_Frame_Shift_Del_p.G363fs|DST_ENST00000312431.6_Frame_Shift_Del_p.G363fs|DST_ENST00000370788.2_Frame_Shift_Del_p.G363fs			Q03001	DYST_HUMAN	dystonin	363					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			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)			TAATGAGTTTCCCCCACTCTT	0.418													37	121	---	---	---	---					
STEAP2	261729	broad.mit.edu	37	7	89859319	89859319	+	Frame_Shift_Del	DEL	C	C	-			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr7:89859319delC	ENST00000287908.3	+	4	1547	c.1154delC	c.(1153-1155)gtfs	p.A385fs	STEAP2_ENST00000394622.2_Frame_Shift_Del_p.A385fs|STEAP2_ENST00000394626.1_Frame_Shift_Del_p.A385fs|STEAP2_ENST00000394621.2_Frame_Shift_Del_p.A385fs|STEAP2_ENST00000402625.2_Frame_Shift_Del_p.A385fs|STEAP2_ENST00000394632.1_Frame_Shift_Del_p.A385fs|STEAP2_ENST00000394629.2_Frame_Shift_Del_p.A385fs	NM_001244944.1|NM_152999.3	NP_001231873.1|NP_694544.2	Q8NFT2	STEA2_HUMAN	STEAP family member 2, metalloreductase	385	Ferric oxidoreductase.				electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus	cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15	all_hematologic(106;0.112)					GTGAGCAATGCTTTAAACTGG	0.398													53	331	---	---	---	---					
ZAN	7455	broad.mit.edu	37	7	100384030	100384033	+	RNA	DEL	TTGT	TTGT	-	rs71973809		TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr7:100384030_100384033delTTGT	ENST00000542585.1	+	0	7124				ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ttttcttttcttgtttgtttgttt	0.505													5	9	---	---	---	---					
COL26A1	136227	broad.mit.edu	37	7	101054783	101054783	+	RNA	DEL	A	A	-			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr7:101054783delA	ENST00000313669.7	+	0	350				COL26A1_ENST00000528707.1_RNA|COL26A1_ENST00000397927.3_RNA	NM_133457.2	NP_597714.2			collagen, type XXVI, alpha 1																		CACGGTGCCTAATTGGCCGTA	0.612											OREG0018222	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2	4	---	---	---	---					
PRSS3P2	154754	broad.mit.edu	37	7	142481923	142481925	+	RNA	DEL	CAA	CAA	-			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr7:142481923_142481925delCAA	ENST00000603901.1	+	0	591					NR_001296.3																						GTGATTAGACCAACCCTTCCCAT	0.537													7	96	---	---	---	---					
CEL	1056	broad.mit.edu	37	9	135947097	135947098	+	Frame_Shift_Ins	INS	-	-	C			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr9:135947097_135947098insC	ENST00000372080.4	+	11	2233_2234	c.2217_2218insC	c.(2215-2220)gtccccfs	p.VP739fs	CEL_ENST00000351304.7_Frame_Shift_Ins_p.VP670fs	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	736	17 X 11 AA tandem repeats, glycodomain, O-linked (mucin type).				cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		CTGCCCCTGTGCCCCCCACAGA	0.658													8	20	---	---	---	---					
LOC101928823	101928823	broad.mit.edu	37	11	112332121	112332121	+	RNA	DEL	T	T	-			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr11:112332121delT	ENST00000528496.1	+	0	231																											TGATTTTATGTTTTTTTTTTT	0.378													2	4	---	---	---	---					
B4GALNT1	2583	broad.mit.edu	37	12	58020563	58020563	+	Frame_Shift_Del	DEL	G	G	-			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr12:58020563delG	ENST00000341156.4	-	11	2150	c.1566delC	c.(1564-1566)ttfs	p.F523fs	B4GALNT1_ENST00000418555.2_Frame_Shift_Del_p.F468fs	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	523					lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			GGTGTTTGAAGAAGAGCAGCC	0.597													53	145	---	---	---	---					
NEK3	4752	broad.mit.edu	37	13	52728029	52728029	+	Splice_Site	DEL	C	C	-			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr13:52728029delC	ENST00000400357.2	-	3	1603		c.e3+1		NEK3_ENST00000339406.3_Splice_Site|NEK3_ENST00000378101.2_Splice_Site|NEK3_ENST00000452082.2_Splice_Site			P51956	NEK3_HUMAN	NIMA-related kinase 3						cell division|mitosis	nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|stomach(2)	18		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.034)|Hepatocellular(98;0.065)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.81e-08)		CAATCTCTTACCATGTCTTCA	0.333													13	111	---	---	---	---					
LOC100130950	100130950	broad.mit.edu	37	17	5096766	5096766	+	RNA	DEL	A	A	-			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr17:5096766delA	ENST00000571689.1	+	0	60				RP11-333E1.1_ENST00000575601.1_RNA	NR_034082.1																						tcaaaaaaataaaaaaaaaaa	0.507													2	4	---	---	---	---					
MYO15A	51168	broad.mit.edu	37	17	18044107	18044107	+	Frame_Shift_Del	DEL	C	C	-			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr17:18044107delC	ENST00000205890.5	+	21	5705	c.5367delC	c.(5365-5367)aafs	p.N1789fs	MYO15A_ENST00000412324.1_3'UTR	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1789	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CCAGGTGCAACCCCTTGTTCA	0.562											OREG0024223	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	66	---	---	---	---					
NF1	4763	broad.mit.edu	37	17	29654741	29654742	+	Frame_Shift_Ins	INS	-	-	T			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr17:29654741_29654742insT	ENST00000358273.4	+	38	5876_5877	c.5493_5494insT	c.(5491-5496)tgaactfs	p.*T1831fs	NF1_ENST00000356175.3_Frame_Shift_Ins_p.*T1810fs|NF1_ENST00000581113.2_3'UTR	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1831					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GGACCCGCTGGGAACTGTCACA	0.510			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			29	123	---	---	---	---					
EHD2	30846	broad.mit.edu	37	19	48239761	48239761	+	Frame_Shift_Del	DEL	G	G	-			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr19:48239761delG	ENST00000263277.3	+	5	1302	c.1051delG	c.(1051-1053)ggfs	p.G351fs	EHD2_ENST00000540884.1_3'UTR|EHD2_ENST00000538399.1_Frame_Shift_Del_p.G215fs	NM_014601.3	NP_055416.2	Q9NZN4	EHD2_HUMAN	EH-domain containing 2	351					blood coagulation|endocytic recycling	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding			endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	19		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)		CATCTCCCCTGGGGACTTTCC	0.527													27	41	---	---	---	---					
MROH8	140699	broad.mit.edu	37	20	35766357	35766357	+	Frame_Shift_Del	DEL	C	C	-			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr20:35766357delC	ENST00000400441.3	-	13	1504	c.1505delG	c.(1504-1506)gafs	p.G502fs	MROH8_ENST00000217333.8_Frame_Shift_Del_p.G331fs|MROH8_ENST00000441008.2_Frame_Shift_Del_p.G488fs					maestro heat-like repeat family member 8																		ACAGATAACTCCCATAATTTC	0.408													12	16	---	---	---	---					
GNAZ	2781	broad.mit.edu	37	22	23438319	23438319	+	Frame_Shift_Del	DEL	A	A	-			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr22:23438319delA	ENST00000248996.4	+	2	1103	c.437delA	c.(436-438)ggfs	p.E146fs	RTDR1_ENST00000216036.4_Intron	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN	guanine nucleotide binding protein (G protein), alpha z polypeptide	146						endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		CGCTCCAGCGAGTACCACCTG	0.662													7	54	---	---	---	---					
AP1B1	162	broad.mit.edu	37	22	29745310	29745311	+	Frame_Shift_Ins	INS	-	-	G			TCGA-49-6767-01A-11D-1855-08	TCGA-49-6767-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f82f494-042a-4f00-954c-4761fa25b298	25c0da49-0dd3-4eac-a262-756b8e3870dc	g.chr22:29745310_29745311insG	ENST00000357586.2	-	11	1519_1520	c.1333_1334insC	c.(1333-1335)ggcfs	p.G445fs	AP1B1_ENST00000317368.7_Frame_Shift_Ins_p.G445fs|AP1B1_ENST00000402502.1_Frame_Shift_Ins_p.G445fs|AP1B1_ENST00000432560.2_Frame_Shift_Ins_p.G445fs|AP1B1_ENST00000356015.2_Frame_Shift_Ins_p.G445fs|AP1B1_ENST00000415447.1_Frame_Shift_Ins_p.G445fs|AP1B1_ENST00000405198.1_Frame_Shift_Ins_p.G445fs	NM_001127.3	NP_001118.3	Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	445					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CATGGCAGCCCGGGCCTCAGGC	0.584													52	68	---	---	---	---					
