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
TNFRSF11B	4982	broad.mit.edu	37	8	119938838	119938838	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr8:119938838C>G	ENST00000297350.4	-	4	1090	c.712G>C	c.(712-714)Gag>Cag	p.E238Q		NM_002546.3	NP_002537.3	O00300	TR11B_HUMAN	tumor necrosis factor receptor superfamily, member 11b	238	Death 1.				apoptosis|skeletal system development		cytokine activity|receptor activity			breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			TTTATCCTCTCTACACTCTCT	0.423000													34	52					0	0	1	0	0
MBLAC1	255374	broad.mit.edu	37	7	99725689	99725689	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr7:99725689C>T	ENST00000398075.2	+	2	1070	c.671C>T	c.(670-672)gCc>gTc	p.A224V		NM_203397.1	NP_981942.1	A4D2B0	MBLC1_HUMAN	metallo-beta-lactamase domain containing 1	224							hydrolase activity|metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|skin(1)	7						CTGGTCGTTGCCGACGTGGTC	0.652000													15	15					0	0	1	0	0
VKORC1	79001	broad.mit.edu	37	16	31102566	31102566	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr16:31102566C>T	ENST00000319788.7	-	4	673	c.463G>A	c.(463-465)Gct>Act	p.A155T	VKORC1_ENST00000354895.4_Missense_Mutation_p.A91T|VKORC1_ENST00000394971.3_Missense_Mutation_p.A159T|VKORC1_ENST00000498155.1_Missense_Mutation_p.A160T|VKORC1_ENST00000300851.6_Missense_Mutation_p.A148T|RP11-196G11.1_ENST00000529564.1_Intron|VKORC1_ENST00000394975.2_Silent_p.V127V			Q9BQB6	VKOR1_HUMAN	vitamin K epoxide reductase complex, subunit 1	0					peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane	vitamin-K-epoxide reductase (warfarin-sensitive) activity			lung(3)|urinary_tract(1)	4					Acenocoumarol(DB01418)|Dicumarol(DB00266)|Menadione(DB00170)|Phenindione(DB00498)|Phenprocoumon(DB00946)|Warfarin(DB00682)	AATCATAGAGCACGAAGAACA	0.552000													16	11					0	0	1	0	0
BMS1	9790	broad.mit.edu	37	10	43292396	43292396	+	Silent	SNP	G	G	A			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr10:43292396G>A	ENST00000374518.5	+	10	1767	c.1704G>A	c.(1702-1704)ctG>ctA	p.L568L		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor						ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						AGTCTTTGCTGATGAAGAAAG	0.488000													25	16					0	0	1	0	0
PIK3C2B	5287	broad.mit.edu	37	1	204438515	204438515	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr1:204438515G>C	ENST00000367187.3	-	3	972	c.416C>G	c.(415-417)tCt>tGt	p.S139C	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.S139C	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	139	Interaction with GRB2.				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			TGGGGACGAAGAGACTCCCCC	0.577000													20	14					0	0	1	0	0
ARCN1	372	broad.mit.edu	37	11	118461075	118461075	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr11:118461075G>C	ENST00000359415.4	+	7	1126	c.961G>C	c.(961-963)Gaa>Caa	p.E321Q	ARCN1_ENST00000392859.3_Missense_Mutation_p.E192Q|ARCN1_ENST00000264028.4_Missense_Mutation_p.E280Q|ARCN1_ENST00000534182.2_Intron			P48444	COPD_HUMAN	archain 1	280	MHD.				COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	clathrin adaptor complex|COPI vesicle coat|cytosol				endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|urinary_tract(1)	13	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		GAAGATTGAAGAAAAGATAAC	0.423000													25	10					0	0	1	0	0
ZNF592	9640	broad.mit.edu	37	15	85341886	85341886	+	Nonsense_Mutation	SNP	C	C	G			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr15:85341886C>G	ENST00000299927.3	+	5	2826	c.2804C>G	c.(2803-2805)tCa>tGa	p.S935*	ZNF592_ENST00000560079.2_Nonsense_Mutation_p.S935*			Q92610	ZN592_HUMAN	zinc finger protein 592	935					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GACACATCCTCAAGCCGCCCT	0.632000													4	16					0	0	1	0	0
CSNK2A1	1457	broad.mit.edu	37	20	469347	469347	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr20:469347G>C	ENST00000217244.3	-	11	1174	c.799C>G	c.(799-801)Cca>Gca	p.P267A	CSNK2A1_ENST00000400217.2_Missense_Mutation_p.P131A|CSNK2A1_ENST00000349736.5_Missense_Mutation_p.P267A|CSNK2A1_ENST00000400227.3_Missense_Mutation_p.P267A	NM_177559.2	NP_808227.1	P68400	CSK21_HUMAN	casein kinase 2, alpha 1 polypeptide	267	Protein kinase.				axon guidance|Wnt receptor signaling pathway	cytosol|NuRD complex|plasma membrane|Sin3 complex	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			TTGAAACGTGGATCTAATTCA	0.368000													34	42					0	0	1	0	0
INPP5E	56623	broad.mit.edu	37	9	139327496	139327496	+	Silent	SNP	G	G	A			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr9:139327496G>A	ENST00000371712.3	-	5	1593	c.1191C>T	c.(1189-1191)atC>atT	p.I397I		NM_019892.4	NP_063945.2	Q9NRR6	INP5E_HUMAN	inositol polyphosphate-5-phosphatase, 72 kDa	397						cilium axoneme|cytoskeleton|Golgi cisterna membrane	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			NS(1)|endometrium(1)|lung(4)|skin(3)	9		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05)		TCTGAGACACGATGCGTGTGG	0.602000													14	4					0	0	1	0	0
CYP27C1	339761	broad.mit.edu	37	2	127944943	127944943	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr2:127944943G>C	ENST00000335247.7	-	8	1153	c.1023C>G	c.(1021-1023)atC>atG	p.I341M	CYP27C1_ENST00000409327.1_Missense_Mutation_p.I341M	NM_001001665.3	NP_001001665.3	Q4G0S4	C27C1_HUMAN	cytochrome P450, family 27, subfamily C, polypeptide 1	341						membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	16	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.071)		AAGATGTTTTGATCTCAAAAT	0.458000													24	13					0	0	1	0	0
LRP12	29967	broad.mit.edu	37	8	105507362	105507362	+	Silent	SNP	C	C	T			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr8:105507362C>T	ENST00000276654.5	-	6	1764	c.1656G>A	c.(1654-1656)ttG>ttA	p.L552L	LRP12_ENST00000424843.2_Silent_p.L533L|LRP12_ENST00000518375.1_5'UTR	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	552					endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CCTGAGCAATCAATTGTCCAT	0.353000													28	54					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10470786	10470786	+	Silent	SNP	C	C	T			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr8:10470786C>T	ENST00000382483.3	-	4	1045	c.822G>A	c.(820-822)ctG>ctA	p.L274L		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	274					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GCCTTTCTGGCAGCCGTGGCG	0.662000													32	10					0	0	1	0	0
ADRA2C	152	broad.mit.edu	37	4	3768849	3768849	+	Silent	SNP	C	C	T			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr4:3768849C>T	ENST00000330055.5	+	1	725	c.516C>T	c.(514-516)atC>atT	p.I172I	ADRA2C_ENST00000509482.1_Silent_p.I172I	NM_000683.3	NP_000674.2	P18825	ADA2C_HUMAN	adrenoceptor alpha 2C	172					activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation|regulation of insulin secretion	endosome|integral to plasma membrane	alpha-2A adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|protein heterodimerization activity|protein homodimerization activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	AGGCCACCATCGTGGCCGTGT	0.677000													12	5					0	0	1	0	0
MYO5A	4644	broad.mit.edu	37	15	52708464	52708464	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr15:52708464C>G	ENST00000399231.3	-	5	733	c.490G>C	c.(490-492)Gag>Cag	p.E164Q	MYO5A_ENST00000358212.6_Missense_Mutation_p.E164Q|MYO5A_ENST00000399233.2_Missense_Mutation_p.E164Q|MYO5A_ENST00000553916.1_Missense_Mutation_p.E164Q|MYO5A_ENST00000356338.6_Missense_Mutation_p.E164Q	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	164	Myosin head-like.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		GCCCCAGACTCTCCACTTACG	0.418000													12	48					0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73062572	73062572	+	RNA	SNP	G	G	A			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chrX:73062572G>A	ENST00000429829.1	-	0	10016					NR_001564.2																						AAGTGCAACTGAGAATTGTTT	0.493000													15	21					0	0	1	0	0
NFE2L1	4779	broad.mit.edu	37	17	46135695	46135695	+	Silent	SNP	C	C	T			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr17:46135695C>T	ENST00000362042.3	+	6	1627	c.1011C>T	c.(1009-1011)taC>taT	p.Y337Y	NFE2L1_ENST00000357480.5_Silent_p.Y307Y|NFE2L1_ENST00000536222.1_Silent_p.Y181Y|NFE2L1_ENST00000361665.3_Silent_p.Y326Y|NFE2L1_ENST00000582155.1_Silent_p.Y149Y|NFE2L1_ENST00000585291.1_Silent_p.Y307Y|NFE2L1_ENST00000583378.1_Silent_p.Y138Y	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN	nuclear factor, erythroid 2-like 1	337					anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AAATCCTGTACAGTGCCCCTC	0.582000													19	27					0	0	1	0	0
SNX5	27131	broad.mit.edu	37	20	17937606	17937606	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr20:17937606C>T	ENST00000377768.3	-	3	439	c.127G>A	c.(127-129)Gac>Aac	p.D43N	SNX5_ENST00000483485.1_5'UTR|SNX5_ENST00000377759.4_Missense_Mutation_p.D43N	NM_152227.1	NP_689413.1	Q9Y5X3	SNX5_HUMAN	sorting nexin 5	43	PX.|Phosphatidylinositol bisphosphate binding (By similarity).				cell communication|pinocytosis|protein transport	cytoplasmic vesicle membrane|early endosome membrane|extrinsic to endosome membrane|extrinsic to internal side of plasma membrane|macropinocytic cup|phagocytic cup|ruffle	phosphatidylinositol binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	11						TTGACTTTGTCTCTCTCACTG	0.418000													20	35					0	0	1	0	0
SLC9A1	6548	broad.mit.edu	37	1	27480687	27480687	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr1:27480687G>A	ENST00000263980.3	-	1	714	c.139C>T	c.(139-141)Cga>Tga	p.R47*	SLC9A1_ENST00000374086.3_Nonsense_Mutation_p.R47*|SLC9A1_ENST00000545949.1_5'UTR	NM_003047.4	NP_003038.2	P19634	SL9A1_HUMAN	solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1	47					regulation of pH	integral to membrane	sodium:hydrogen antiporter activity			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	TCTGAGCTTCGAATGGTGCTG	0.597000													25	22					0	0	1	0	0
CCDC151	115948	broad.mit.edu	37	19	11531589	11531589	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr19:11531589C>T	ENST00000356392.4	-	13	1789	c.1702G>A	c.(1702-1704)Gag>Aag	p.E568K	CCDC151_ENST00000591179.1_Missense_Mutation_p.E508K|CCDC151_ENST00000545100.1_Missense_Mutation_p.E514K|CCDC151_ENST00000586836.1_Missense_Mutation_p.E377K	NM_145045.4	NP_659482.3	A5D8V7	CC151_HUMAN	coiled-coil domain containing 151	568										endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	12						GTCACTACCTCGTTGTCCTCC	0.577000													21	25					0	0	1	0	0
PTPN13	5783	broad.mit.edu	37	4	87593649	87593649	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr4:87593649G>C	ENST00000436978.1	+	3	727	c.247G>C	c.(247-249)Gag>Cag	p.E83Q	PTPN13_ENST00000502971.1_Missense_Mutation_p.E83Q|PTPN13_ENST00000427191.2_Missense_Mutation_p.E83Q|PTPN13_ENST00000316707.6_Missense_Mutation_p.E83Q|PTPN13_ENST00000411767.2_Missense_Mutation_p.E83Q|PTPN13_ENST00000511467.1_Missense_Mutation_p.E83Q	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	83	KIND.					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		CACTGCACCAGAGGTTCTTCA	0.378000													7	6					0	0	1	0	0
HSPG2	3339	broad.mit.edu	37	1	22159841	22159841	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr1:22159841G>C	ENST00000374695.3	-	80	11094	c.11015C>G	c.(11014-11016)tCc>tGc	p.S3672C		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3672	Laminin G-like 1.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CGGTAGGAAGGAGTAGGGGGT	0.592000													6	11					0	0	1	0	0
CXorf66	347487	broad.mit.edu	37	X	139038288	139038288	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chrX:139038288C>G	ENST00000370540.1	-	3	876	c.853G>C	c.(853-855)Gat>Cat	p.D285H		NM_001013403.2	NP_001013421.1	Q5JRM2	CX066_HUMAN	chromosome X open reading frame 66	285						integral to membrane				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1)	26						TCAGAAATATCATTGACCAAA	0.398000													51	100					0	0	1	0	0
NPAT	4863	broad.mit.edu	37	11	108062882	108062882	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr11:108062882G>C	ENST00000278612.8	-	4	358	c.253C>G	c.(253-255)Cta>Gta	p.L85V	NPAT_ENST00000610253.1_5'UTR	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	85	Interaction with MIZF.				positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		TTCTTCCATAGAGATGACATT	0.328000													3	51					0	0	1	0	0
TULP4	56995	broad.mit.edu	37	6	158902259	158902259	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr6:158902259G>A	ENST00000367097.3	+	8	2781	c.1424G>A	c.(1423-1425)cGg>cAg	p.R475Q	TULP4_ENST00000367094.2_Missense_Mutation_p.R475Q	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	475					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		CTCAAAGGGCGGCGCATCAGC	0.647000													22	9					0	0	1	0	0
TOE1	114034	broad.mit.edu	37	1	45808572	45808572	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr1:45808572C>G	ENST00000372090.5	+	7	1393	c.810C>G	c.(808-810)ttC>ttG	p.F270L	TOE1_ENST00000495703.1_3'UTR|TOE1_ENST00000539779.1_Missense_Mutation_p.F190L	NM_025077.3	NP_079353.3	Q96GM8	TOE1_HUMAN	target of EGR1, member 1 (nuclear)	270						nuclear speck|nucleolus	nucleic acid binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	11	Acute lymphoblastic leukemia(166;0.155)					CCCTGGAGTTCTGCAACTATC	0.552000													7	10					0	0	1	0	0
PRKAA2	5563	broad.mit.edu	37	1	57159458	57159458	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr1:57159458G>C	ENST00000371244.4	+	5	562	c.496G>C	c.(496-498)Gat>Cat	p.D166H		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	166	Protein kinase.				carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						TATGATGTCAGATGGTGAATT	0.308000													37	27					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29628283	29628283	+	Silent	SNP	G	G	C			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr20:29628283G>C	ENST00000278882.3	+	6	665	c.285G>C	c.(283-285)ggG>ggC	p.G95G	FRG1B_ENST00000439954.2_Silent_p.G100G|FRG1B_ENST00000358464.4_Silent_p.G95G														p.G95G(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGAAGCAGGGGACATAGAAG	0.378000													4	60					0	0	1	0	0
CORO1A	11151	broad.mit.edu	37	16	30199566	30199566	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr16:30199566G>A	ENST00000219150.5	+	9	1366	c.1061G>A	c.(1060-1062)cGa>cAa	p.R354Q	CORO1A_ENST00000570045.1_Missense_Mutation_p.R354Q|CORO1A_ENST00000565497.1_Missense_Mutation_p.R354Q	NM_001193333.2|NM_007074.3	NP_001180262.1|NP_009005.1	P31146	COR1A_HUMAN	coronin, actin binding protein, 1A	354					cell-substrate adhesion|innate immune response|leukocyte chemotaxis|negative regulation of actin nucleation|phagolysosome assembly|positive chemotaxis|regulation of cell shape|uropod organization	actin filament|cortical actin cytoskeleton|lamellipodium|phagocytic cup|phagocytic vesicle membrane	actin filament binding|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein homodimerization activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	9						ACAGTGCCTCGAAAGGTGATG	0.632000													14	30					0	0	1	0	0
MTMR11	10903	broad.mit.edu	37	1	149902432	149902432	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr1:149902432G>C	ENST00000439741.2	-	15	1722	c.1472C>G	c.(1471-1473)tCc>tGc	p.S491C	MTMR11_ENST00000361405.6_3'UTR|MTMR11_ENST00000369140.3_Missense_Mutation_p.S419C|MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000406732.3_3'UTR	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	491	Myotubularin phosphatase.						phosphatase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			TTGTGTATAGGAGTTTAACTG	0.448000													35	42					0	0	1	0	0
SLC17A2	10246	broad.mit.edu	37	6	25914794	25914794	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr6:25914794T>C	ENST00000265425.3	-	10	1336	c.1316A>G	c.(1315-1317)tAt>tGt	p.Y439C	SLC17A2_ENST00000377850.3_Intron|SLC17A2_ENST00000360488.3_Intron			O00624	NPT3_HUMAN	solute carrier family 17, member 2	439					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						agatgttcaataaaCTGGCCC	0.458000													6	18					0	0	1	0	0
GATAD2A	54815	broad.mit.edu	37	19	19603402	19603402	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr19:19603402G>A	ENST00000404158.1	+	6	833	c.415G>A	c.(415-417)Gaa>Aaa	p.E139K	GATAD2A_ENST00000252577.5_Missense_Mutation_p.E139K|GATAD2A_ENST00000358713.3_Missense_Mutation_p.E139K|GATAD2A_ENST00000537887.1_Intron|GATAD2A_ENST00000360315.3_Missense_Mutation_p.E139K|GATAD2A_ENST00000429563.2_5'UTR			Q86YP4	P66A_HUMAN	GATA zinc finger domain containing 2A	139					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			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13						AAGCAGTCCTGAAGAACGAGA	0.502000													11	31					0	0	1	0	0
RNF157	114804	broad.mit.edu	37	17	74162587	74162587	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr17:74162587C>T	ENST00000269391.6	-	6	715	c.583G>A	c.(583-585)Gaa>Aaa	p.E195K	RNF157_ENST00000319945.6_Missense_Mutation_p.E195K	NM_052916.2	NP_443148.1	Q96PX1	RN157_HUMAN	ring finger protein 157	195							zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	25			LUSC - Lung squamous cell carcinoma(166;0.187)			GGGTAAACTTCTCGGTCTAAA	0.453000													34	42					0	0	1	0	0
AGPS	8540	broad.mit.edu	37	2	178378611	178378611	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr2:178378611C>T	ENST00000264167.4	+	17	1818	c.1672C>T	c.(1672-1674)Cag>Tag	p.Q558*	AGPS_ENST00000409888.1_Intron	NM_003659.3	NP_003650.1	O00116	ADAS_HUMAN	alkylglycerone phosphate synthase	558					ether lipid biosynthetic process	peroxisomal matrix|peroxisomal membrane|plasma membrane	alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)			GAAGGGTGTTCAGTTTGCTCC	0.289000													41	10					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140439747	140439747	+	Splice_Site	SNP	C	C	A			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr7:140439747C>A	ENST00000288602.6	-	17	2053		c.e17-1			NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B						activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding		SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TAAAAATTATCTGGAGAGAGA	0.373000		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				14	22					1.05317e-09	1.12039e-09	1	1	0
TRIM67	440730	broad.mit.edu	37	1	231299634	231299634	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr1:231299634G>C	ENST00000444294.3	+	1	1777	c.919G>C	c.(919-921)Gaa>Caa	p.E307Q	TRIM67_ENST00000449018.3_Missense_Mutation_p.E245Q|TRIM67_ENST00000366653.5_Missense_Mutation_p.E307Q|TRIM67_ENST00000366652.2_Missense_Mutation_p.E307Q	NM_001004342.3	NP_001004342.3	Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	307						cytoplasm|cytoskeleton	zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				TCCCGAGCATGAAATGGAGAA	0.692000													4	5					0	0	1	0	0
SRPK3	26576	broad.mit.edu	37	X	153049757	153049757	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chrX:153049757G>A	ENST00000489426.1	+	17	3723	c.1357G>A	c.(1357-1359)Ggt>Agt	p.G453S	SRPK3_ENST00000370101.3_Missense_Mutation_p.G386S|SRPK3_ENST00000393786.3_Missense_Mutation_p.G352S|SRPK3_ENST00000370100.1_Missense_Mutation_p.G311S|SRPK3_ENST00000370104.1_Missense_Mutation_p.G385S|SRPK3_ENST00000370108.3_Missense_Mutation_p.G353S			Q9UPE1	SRPK3_HUMAN	SRSF protein kinase 3	386	Protein kinase.				cell differentiation|muscle organ development|muscle tissue development		ATP binding|protein serine/threonine kinase activity			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)					AGCACCATTCGGTGCCTCGAA	0.592000													6	28					0	0	1	0	0
SBNO1	55206	broad.mit.edu	37	12	123818691	123818691	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr12:123818691T>C	ENST00000420886.2	-	6	817	c.818A>G	c.(817-819)gAt>gGt	p.D273G	SBNO1_ENST00000602398.1_Missense_Mutation_p.D273G|SBNO1_ENST00000267176.4_Missense_Mutation_p.D272G|SBNO1_ENST00000602750.1_Missense_Mutation_p.D272G	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	273							ATP binding|DNA binding|hydrolase activity	p.D272G(1)		NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		GTACCAAACATCAGGAGGAGT	0.378000													9	30					0	0	1	0	0
PHC1	1911	broad.mit.edu	37	12	9087791	9087791	+	Silent	SNP	G	G	A			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr12:9087791G>A	ENST00000433083.2	+	10	2335	c.2190G>A	c.(2188-2190)gaG>gaA	p.E730E	PHC1_ENST00000536844.1_Silent_p.E381E|PHC1_ENST00000543824.1_Silent_p.E775E|PHC1_ENST00000544916.1_Silent_p.E775E			P78364	PHC1_HUMAN	polyhomeotic homolog 1 (Drosophila)	775					multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						GGCTGACTGAGAATCAGTCAG	0.498000													5	13					0	0	1	0	0
TNRC6A	27327	broad.mit.edu	37	16	24801369	24801369	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr16:24801369C>T	ENST00000395799.3	+	6	1535	c.1406C>T	c.(1405-1407)tCa>tTa	p.S469L	TNRC6A_ENST00000315183.7_Missense_Mutation_p.S469L	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	469	Sufficient for interaction with EIF2C1, EIF2C3 and EIF2C4.|Sufficient for interaction with EIF2C2.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		AACTCCGGTTCAGTGCAGAAT	0.438000													14	30					0	0	1	0	0
TSSC2	650368	broad.mit.edu	37	11	3427765	3427765	+	RNA	SNP	G	G	C			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr11:3427765G>C	ENST00000529482.1	+	0	882																											CACACGTCCTGCAGTGGCCTG	0.602000													3	24					0	0	1	0	0
LRRK2	120892	broad.mit.edu	37	12	40677749	40677749	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr12:40677749C>T	ENST00000298910.7	+	19	2372	c.2314C>T	c.(2314-2316)Cga>Tga	p.R772*	LRRK2_ENST00000343742.2_Nonsense_Mutation_p.R772*	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	772					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				ACAAGATGTACGAAAAGCGTT	0.418000													9	39					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164792339	164792339	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr3:164792339G>A	ENST00000264382.3	-	3	297	c.235C>T	c.(235-237)Cca>Tca	p.P79S		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	79	P-type 1.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	AATTGTTCTGGAATGCAGTTT	0.328000										HNSCC(35;0.089)			25	34					0	0	1	0	0
CDC45	8318	broad.mit.edu	37	22	19481852	19481852	+	Silent	SNP	G	G	A			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr22:19481852G>A	ENST00000407835.1	+	7	745	c.489G>A	c.(487-489)gaG>gaA	p.E163E	CDC45_ENST00000437685.2_Silent_p.E163E|CDC45_ENST00000404724.3_Silent_p.E117E|CDC45_ENST00000483431.1_3'UTR|CDC45_ENST00000263201.1_Silent_p.E163E			O75419	CDC45_HUMAN	cell division cycle 45	163					DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	centrosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						TGTATCAGGAGATAGTGGAGC	0.562000													9	15					0	0	1	0	0
CBX7	23492	broad.mit.edu	37	22	39534665	39534665	+	Silent	SNP	C	C	T	rs150449795		TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr22:39534665C>T	ENST00000216133.5	-	4	427	c.222G>A	c.(220-222)ccG>ccA	p.P74P	CBX7_ENST00000475962.1_Intron|CBX7_ENST00000401405.3_Silent_p.P74P	NM_175709.3	NP_783640.1	O95931	CBX7_HUMAN	chromobox homolog 7	74					chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear chromatin|PcG protein complex				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7	Melanoma(58;0.04)					GCTTGGGTTTCGGACCTCTCT	0.582000													8	43					0	0	1	0	0
SYT5	6861	broad.mit.edu	37	19	55687216	55687216	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr19:55687216C>G	ENST00000354308.3	-	5	770	c.401G>C	c.(400-402)gGa>gCa	p.G134A	SYT5_ENST00000590851.1_Missense_Mutation_p.G131A|CTD-2587H24.5_ENST00000591665.1_RNA|SYT5_ENST00000537500.1_Missense_Mutation_p.G134A	NM_003180.2	NP_003171.2	O00445	SYT5_HUMAN	synaptotagmin V	134	C2 1.				energy reserve metabolic process|regulation of insulin secretion|synaptic transmission	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane	metal ion binding|transporter activity			kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		GGCTGCCAATCCCATTGCTTG	0.612000													25	32					0	0	1	0	0
CHSY1	22856	broad.mit.edu	37	15	101718926	101718926	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr15:101718926G>T	ENST00000254190.3	-	3	1551	c.1076C>A	c.(1075-1077)cCt>cAt	p.P359H	CHSY1_ENST00000543813.1_5'UTR	NM_014918.4	NP_055733.2	Q86X52	CHSS1_HUMAN	chondroitin sulfate synthase 1	359			P -> S (in dbSNP:rs3743193).		chondroitin sulfate biosynthetic process	Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GAAGGAGGGAGGGATTCCCAG	0.522000													9	21					1.12685e-05	1.16571e-05	1	1	0
C8orf74	203076	broad.mit.edu	37	8	10557759	10557759	+	Silent	SNP	C	C	T			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr8:10557759C>T	ENST00000304519.5	+	4	692	c.663C>T	c.(661-663)ctC>ctT	p.L221L	RP1L1_ENST00000329335.3_Intron	NM_001040032.1	NP_001035121	Q6P047	CH074_HUMAN	chromosome 8 open reading frame 74	221										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13				COAD - Colon adenocarcinoma(149;0.0811)		TGGAGAGCCTCATCTGCCAGG	0.597000													15	7					0	0	1	0	0
PYGB	5834	broad.mit.edu	37	20	25249783	25249783	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr20:25249783G>T	ENST00000216962.4	+	3	474	c.364G>T	c.(364-366)Gaa>Taa	p.E122*		NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	122					glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31					Pyridoxal Phosphate(DB00114)	AGACTTGGAGGAACTCGAGGA	0.493000													11	12					3.86212e-05	3.96793e-05	1	1	0
TJP2	9414	broad.mit.edu	37	9	71833184	71833184	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr9:71833184G>C	ENST00000377245.4	+	4	459	c.251G>C	c.(250-252)aGa>aCa	p.R84T	TJP2_ENST00000535702.1_Missense_Mutation_p.R88T|TJP2_ENST00000377259.1_Missense_Mutation_p.R61T|TJP2_ENST00000453658.2_Missense_Mutation_p.R61T|TJP2_ENST00000265384.7_Missense_Mutation_p.R84T|TJP2_ENST00000348208.4_Missense_Mutation_p.R84T|TJP2_ENST00000539225.1_Missense_Mutation_p.R115T	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	84	PDZ 1.				cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						GAAAATGACAGAGTGGTCATG	0.383000													19	12					0	0	1	0	0
ARFGEF2	10564	broad.mit.edu	37	20	47630387	47630387	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr20:47630387G>C	ENST00000371917.4	+	30	4069	c.4069G>C	c.(4069-4071)Gag>Cag	p.E1357Q		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	1357					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity	p.E1357Q(1)		breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			AGTCATGTTTGAGATCATGAA	0.473000													27	38					0	0	1	0	0
FLNA	2316	broad.mit.edu	37	X	153585851	153585851	+	Silent	SNP	G	G	A			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chrX:153585851G>A	ENST00000422373.1	-	29	5144	c.4896C>T	c.(4894-4896)taC>taT	p.Y1632Y	FLNA_ENST00000344736.4_Silent_p.Y1632Y|FLNA_ENST00000369850.3_Silent_p.Y1632Y|FLNA_ENST00000369856.3_5'UTR|FLNA_ENST00000360319.4_Silent_p.Y1632Y	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	1632					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-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)					CACGCACGCGGTACGGGGAGA	0.657000													3	34					0	0	1	0	0
OPHN1	4983	broad.mit.edu	37	X	67431953	67431953	+	Silent	SNP	C	C	T			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chrX:67431953C>T	ENST00000355520.5	-	8	1340	c.699G>A	c.(697-699)caG>caA	p.Q233Q	OPHN1_ENST00000540071.1_Silent_p.Q233Q	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1	233					axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						AACTCACATTCTGTAAACTGA	0.438000													5	5					0	0	1	0	0
TTLL5	23093	broad.mit.edu	37	14	76149969	76149969	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr14:76149969C>T	ENST00000298832.9	+	5	546	c.341C>T	c.(340-342)tCt>tTt	p.S114F	TTLL5_ENST00000556977.1_Missense_Mutation_p.S114F|TTLL5_ENST00000557636.1_Missense_Mutation_p.S114F|TTLL5_ENST00000286650.5_Missense_Mutation_p.S114F	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	114	TTL.				protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		CGCACCCTCTCTGAAGCACAA	0.468000													25	42					0	0	1	0	0
OR6Y1	391112	broad.mit.edu	37	1	158517049	158517049	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr1:158517049A>G	ENST00000302617.3	-	1	846	c.847T>C	c.(847-849)Tac>Cac	p.Y283H		NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y, member 1	283					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					ATGACAGTGTAGAGAACAGAT	0.453000													61	59					0	0	1	0	0
TJAP1	93643	broad.mit.edu	37	6	43473402	43473402	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr6:43473402G>C	ENST00000372444.2	+	11	1886	c.1453G>C	c.(1453-1455)Gag>Cag	p.E485Q	TJAP1_ENST00000436109.2_Missense_Mutation_p.E485Q|TJAP1_ENST00000372452.1_Missense_Mutation_p.E485Q|TJAP1_ENST00000372449.1_Missense_Mutation_p.E495Q|TJAP1_ENST00000259751.1_Missense_Mutation_p.E485Q|TJAP1_ENST00000438588.2_Missense_Mutation_p.E495Q|TJAP1_ENST00000372445.5_Missense_Mutation_p.E495Q|TJAP1_ENST00000483640.1_3'UTR	NM_001146018.1	NP_001139490.1	Q5JTD0	TJAP1_HUMAN	tight junction associated protein 1 (peripheral)	495						Golgi apparatus|tight junction	protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|urinary_tract(2)	21	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			TCCTGAGGAAGAGCGCCAGAG	0.627000													37	4					0	0	1	0	0
ARAP1	116985	broad.mit.edu	37	11	72408394	72408394	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr11:72408394C>T	ENST00000359373.5	-	21	3778	c.2927G>A	c.(2926-2928)cGc>cAc	p.R976H	ARAP1_ENST00000429686.1_Missense_Mutation_p.R670H|ARAP1_ENST00000393609.3_Missense_Mutation_p.R976H|ARAP1_ENST00000426523.1_Missense_Mutation_p.R731H|ARAP1_ENST00000334211.8_Missense_Mutation_p.R731H|ARAP1_ENST00000495878.1_5'UTR|ARAP1_ENST00000393605.3_Missense_Mutation_p.R736H|ARAP1_ENST00000455638.2_Missense_Mutation_p.R976H			Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	976	Rho-GAP.				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						GTCCACACAGCGGTACACGAT	0.697000													2	0					0	0	1	0	0
SYT1	6857	broad.mit.edu	37	12	79837902	79837902	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr12:79837902G>T	ENST00000261205.4	+	10	1635	c.978G>T	c.(976-978)aaG>aaT	p.K326N	RP1-78O14.1_ENST00000550268.1_lincRNA|SYT1_ENST00000552744.1_Missense_Mutation_p.K326N|SYT1_ENST00000457153.2_Missense_Mutation_p.K323N|SYT1_ENST00000393240.3_Missense_Mutation_p.K326N	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	326	C2 2.|Phospholipid binding (Probable).				detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						GGCTGAAGAAGAAAAAGACAA	0.338000													7	33					0.0293803	0.0295775	1	1	0
ATHL1	80162	broad.mit.edu	37	11	294285	294285	+	Silent	SNP	G	G	A			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr11:294285G>A	ENST00000409548.2	+	13	1942	c.1827G>A	c.(1825-1827)gtG>gtA	p.V609V	ATHL1_ENST00000409479.1_Silent_p.V636V|ATHL1_ENST00000409655.1_Silent_p.V361V	NM_025092.4	NP_079368.3	Q32M88	ATHL1_HUMAN	ATH1, acid trehalase-like 1 (yeast)	609					carbohydrate metabolic process		hydrolase activity, acting on glycosyl bonds			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|skin(3)	17		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		GAGCGGGTGTGACCTTTGACC	0.612000													27	15					0	0	1	0	0
OR52E8	390079	broad.mit.edu	37	11	5878554	5878554	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr11:5878554C>T	ENST00000537935.1	-	1	410	c.379G>A	c.(379-381)Gac>Aac	p.D127N	TRIM5_ENST00000380027.1_Intron	NM_001005168.1	NP_001005168.1	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E, member 8	127					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATGTAGCGGTCAAAGGCCATG	0.468000													19	138					0	0	1	0	0
OR4M1	441670	broad.mit.edu	37	14	20249265	20249265	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr14:20249265C>T	ENST00000315957.4	+	1	865	c.784C>T	c.(784-786)Cgc>Tgc	p.R262C		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	262					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CATTTATGCTCGCCCATTTGA	0.413000													29	50					0	0	1	0	0
LRRC6	23639	broad.mit.edu	37	8	133650329	133650329	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr8:133650329T>C	ENST00000519595.1	-	4	379	c.281A>G	c.(280-282)gAc>gGc	p.D94G	LRRC6_ENST00000518642.1_Missense_Mutation_p.D94G|LRRC6_ENST00000520446.1_5'UTR|LRRC6_ENST00000250173.1_Missense_Mutation_p.D94G			Q86X45	LRRC6_HUMAN	leucine rich repeat containing 6	94						cytoplasm				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			CACAGTCAGGTCAAGTTTTGC	0.403000													16	39					0	0	1	0	0
WDR35	57539	broad.mit.edu	37	2	20114010	20114010	+	Silent	SNP	G	G	A			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr2:20114010G>A	ENST00000345530.3	-	27	3298	c.3183C>T	c.(3181-3183)atC>atT	p.I1061I	WDR35_ENST00000416055.2_Intron|WDR35_ENST00000281405.4_Silent_p.I1050I	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	1061										breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGGAGGGATGATGTCTTCAT	0.388000													53	13					0	0	1	0	0
OR4K1	79544	broad.mit.edu	37	14	20404692	20404692	+	Silent	SNP	G	G	C			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr14:20404692G>C	ENST00000285600.4	+	1	926	c.867G>C	c.(865-867)ctG>ctC	p.L289L		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	289					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		TCTACTCTCTGAGGAATGAAG	0.408000													29	25					0	0	1	0	0
UBTD2	92181	broad.mit.edu	37	5	171661228	171661228	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr5:171661228C>G	ENST00000393792.2	-	2	610	c.205G>C	c.(205-207)Gag>Cag	p.E69Q		NM_152277.2	NP_689490.2	Q8WUN7	UBTD2_HUMAN	ubiquitin domain containing 2	69						cytoplasm				cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)|skin(1)	10	Renal(175;0.000159)|Lung NSC(126;0.00976)|all_lung(126;0.0156)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TCCCAAATCTCTTTCCGGCCT	0.438000													39	30					0	0	1	0	0
OPCML	4978	broad.mit.edu	37	11	132399053	132399053	+	Nonsense_Mutation	SNP	G	G	C			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr11:132399053G>C	ENST00000331898.7	-	3	1006	c.428C>G	c.(427-429)tCa>tGa	p.S143*	OPCML_ENST00000524381.1_Nonsense_Mutation_p.S136*|OPCML_ENST00000374778.4_Nonsense_Mutation_p.S102*|OPCML_ENST00000541867.1_Nonsense_Mutation_p.S143*|OPCML_ENST00000529038.1_5'UTR	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	143	Ig-like C2-type 2.				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		AGTGATGTCTGAGGAGATATT	0.448000													5	22					0	0	1	0	0
BDP1	55814	broad.mit.edu	37	5	70819998	70819998	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr5:70819998G>A	ENST00000358731.4	+	25	5883	c.5620G>A	c.(5620-5622)Gaa>Aaa	p.E1874K	BDP1_ENST00000380675.2_Missense_Mutation_p.E11K	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	1874					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		TTCCCAGGAAGAAGATGATGA	0.478000													33	32					0	0	1	0	0
SPON1	10418	broad.mit.edu	37	11	14284333	14284333	+	RNA	SNP	G	G	A			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr11:14284333G>A	ENST00000310358.7	+	0	2607							Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding			NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		CACGTGATTCGAACCCGGATG	0.537000													20	7					0	0	1	0	0
DHRS3	9249	broad.mit.edu	37	1	12632781	12632781	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr1:12632781T>C	ENST00000376223.2	-	5	1182	c.799A>G	c.(799-801)Atg>Gtg	p.M267V		NM_004753.4	NP_004744.2	O75911	DHRS3_HUMAN	dehydrogenase/reductase (SDR family) member 3	267					retinol metabolic process|visual perception	integral to membrane	electron carrier activity|NADP-retinol dehydrogenase activity|nucleotide binding			cervix(1)|large_intestine(4)|lung(2)|prostate(1)|skin(1)	9	Ovarian(185;0.249)	Lung NSC(185;4.11e-05)|all_lung(284;4.58e-05)|Renal(390;0.000147)|Colorectal(325;0.000585)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;9.25e-07)|COAD - Colon adenocarcinoma(227;0.000326)|BRCA - Breast invasive adenocarcinoma(304;0.000344)|Kidney(185;0.00235)|KIRC - Kidney renal clear cell carcinoma(229;0.00656)|STAD - Stomach adenocarcinoma(313;0.00798)|READ - Rectum adenocarcinoma(331;0.0419)	Vitamin A(DB00162)	AGGGCATGCATTGTCCATGGG	0.567000													2	3					0	0	1	0	0
HAUS6	54801	broad.mit.edu	37	9	19058931	19058931	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr9:19058931G>C	ENST00000380502.3	-	16	2301	c.1834C>G	c.(1834-1836)Caa>Gaa	p.Q612E	HAUS6_ENST00000380496.1_Missense_Mutation_p.Q476E	NM_001270890.1|NM_017645.4	NP_001257819.1|NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	612					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleus|spindle				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GCATCCATTTGAATTGGTTCT	0.348000													11	6					0	0	1	0	0
RTN4	57142	broad.mit.edu	37	2	55252820	55252820	+	Silent	SNP	G	G	A			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr2:55252820G>A	ENST00000337526.6	-	3	2658	c.2415C>T	c.(2413-2415)ctC>ctT	p.L805L	RTN4_ENST00000404909.1_Silent_p.L599L|RTN4_ENST00000394611.2_Silent_p.L599L|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000405240.1_Silent_p.L599L|RTN4_ENST00000357732.4_Intron|RTN4_ENST00000354474.6_Silent_p.L573L|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000357376.3_Silent_p.L599L	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	805					apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						TATCTAAACTGAGCTTAAAAG	0.383000													53	22					0	0	1	0	0
ACAP3	116983	broad.mit.edu	37	1	1233313	1233313	+	Splice_Site	SNP	C	C	G			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr1:1233313C>G	ENST00000354700.5	-	14	1219	c.1017G>C	c.(1015-1017)aaG>aaC	p.K339N	ACAP3_ENST00000353662.3_Splice_Site_p.K297N|ACAP3_ENST00000379037.2_5'UTR	NM_030649.2	NP_085152.2	Q96P50	ACAP3_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 3	339	PH.				filopodium assembly|regulation of ARF GTPase activity|signal transduction		ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	14						GCATGCAGCTCCTGCAGGCAG	0.701000													5	10					0	0	1	0	0
HDAC1	3065	broad.mit.edu	37	1	32796275	32796275	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr1:32796275C>A	ENST00000373548.3	+	8	910	c.826C>A	c.(826-828)Cta>Ata	p.L276I	HDAC1_ENST00000490081.1_3'UTR|HDAC1_ENST00000373541.2_Missense_Mutation_p.L83I	NM_004964.2	NP_004955.2	Q13547	HDAC1_HUMAN	histone deacetylase 1	276	Histone deacetylase.				anti-apoptosis|blood coagulation|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|histone H3 deacetylation|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of androgen receptor signaling pathway|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytosol|NuRD complex|Sin3 complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|identical protein binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|RNA polymerase II transcription corepressor activity|sequence-specific DNA binding transcription factor activity			NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18		Breast(348;0.000523)|Lung NSC(340;0.000992)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Lung SC(1967;0.113)		KIRC - Kidney renal clear cell carcinoma(1967;0.138)	Vorinostat(DB02546)	TTGCTTCAATCTAACTATCAA	0.532000													28	29					2.65835e-16	2.86872e-16	1	1	0
TBX6	6911	broad.mit.edu	37	16	30097623	30097623	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr16:30097623G>A	ENST00000395224.2	-	9	1293	c.1234C>T	c.(1234-1236)Ctc>Ttc	p.L412F	TBX6_ENST00000279386.2_Missense_Mutation_p.L412F	NM_004608.3	NP_004599.2	O95947	TBX6_HUMAN	T-box 6	412					anatomical structure morphogenesis|mesoderm development|multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	9						CCCCCTTGGAGAAAGTGCGGG	0.662000													14	12					0	0	1	0	0
NODAL	4838	broad.mit.edu	37	10	72192795	72192795	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr10:72192795G>A	ENST00000287139.3	-	3	940	c.941C>T	c.(940-942)gCc>gTc	p.A314V		NM_018055.4	NP_060525.3	Q96S42	NODAL_HUMAN	nodal growth differentiation factor	314					growth	extracellular space	cytokine activity|growth factor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2)	15						CTTCACTGGGGCACAACAAGT	0.517000													26	36					0	0	1	0	0
GPSM2	29899	broad.mit.edu	37	1	109445852	109445852	+	Missense_Mutation	SNP	G	G	A	rs145339242		TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr1:109445852G>A	ENST00000406462.2	+	10	1831	c.1058G>A	c.(1057-1059)aGa>aAa	p.R353K	GPSM2_ENST00000264126.3_Missense_Mutation_p.R353K|AKNAD1_ENST00000357393.4_Intron			P81274	GPSM2_HUMAN	G-protein signaling modulator 2						G-protein coupled receptor protein signaling pathway	cell cortex|nucleus	GTPase activator activity|identical protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)	14		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209)		GAAATTTCAAGAGAGGTATGA	0.393000													7	11					0	0	1	0	0
LRRC4B	94030	broad.mit.edu	37	19	51022625	51022625	+	Silent	SNP	C	C	T			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr19:51022625C>T	ENST00000599957.1	-	3	542	c.345G>A	c.(343-345)ctG>ctA	p.L115L	LRRC4B_ENST00000389201.3_Silent_p.L115L			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	115						cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		TGCTCAGCTGCAGAATCTCCA	0.622000													20	15					0	0	1	0	0
CCDC155	147872	broad.mit.edu	37	19	49916240	49916240	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr19:49916240G>C	ENST00000447857.3	+	16	1490	c.1285G>C	c.(1285-1287)Gag>Cag	p.E429Q		NM_144688.4	NP_653289.3	Q8N6L0	CC155_HUMAN	coiled-coil domain containing 155	429						integral to membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	22						CTTCCAGGGAGAGCCAGCGCA	0.527000													9	23					0	0	1	0	0
CYP11B2	1585	broad.mit.edu	37	8	143995685	143995685	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr8:143995685C>T	ENST00000323110.2	-	5	951	c.949G>A	c.(949-951)Gac>Aac	p.D317N		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	317					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	CTGACCGTGTCCACGCTCCCT	0.607000									Familial Hyperaldosteronism type I				17	22					0	0	1	0	0
CNTROB	116840	broad.mit.edu	37	17	7847529	7847529	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr17:7847529G>C	ENST00000380262.3	+	11	2459	c.1534G>C	c.(1534-1536)Gaa>Caa	p.E512Q	CNTROB_ENST00000565740.1_Missense_Mutation_p.E512Q|CNTROB_ENST00000380255.3_Missense_Mutation_p.E512Q|CNTROB_ENST00000563694.1_Missense_Mutation_p.E512Q	NM_001037144.5	NP_001032221.1	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	512	Required for centrosome localization.				centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				AGAACGAGAGGAACGGCAACA	0.602000													18	9					0	0	1	0	0
TCF20	6942	broad.mit.edu	37	22	42609136	42609136	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr22:42609136G>A	ENST00000359486.3	-	1	2312	c.2176C>T	c.(2176-2178)Cag>Tag	p.Q726*	TCF20_ENST00000335626.4_Nonsense_Mutation_p.Q726*	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	726					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GTAGGATACTGAGGAAAGCCA	0.493000													54	87					0	0	1	0	0
ANKDD1A	348094	broad.mit.edu	37	15	65239658	65239658	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr15:65239658C>T	ENST00000380230.3	+	13	1225	c.1196C>T	c.(1195-1197)tCc>tTc	p.S399F	ANKDD1A_ENST00000395723.1_Missense_Mutation_p.S276F|ANKDD1A_ENST00000357698.3_Missense_Mutation_p.S367F|ANKDD1A_ENST00000395720.1_Missense_Mutation_p.S399F	NM_182703.3	NP_874362.3	Q495B1	AKD1A_HUMAN	ankyrin repeat and death domain containing 1A	399					signal transduction					NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2)	21						AAGAGCTTGTCCTTTAAGCAG	0.602000													3	21					0	0	1	0	0
NKX2-5	1482	broad.mit.edu	37	5	172659846	172659846	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr5:172659846G>T	ENST00000329198.4	-	2	974	c.701C>A	c.(700-702)tCg>tAg	p.S234*		NM_001166175.1|NM_001166176.1|NM_004387.3	NP_001159647.1|NP_001159648.1|NP_004378.1	P52952	NKX25_HUMAN	NK2 homeobox 5	234	Ala/Pro-rich.				adult heart development|atrial cardiac muscle cell development|atrial septum morphogenesis|heart looping|hemopoiesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell apoptosis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|outflow tract septum morphogenesis|pharyngeal system development|positive regulation of calcium ion transport via voltage-gated calcium channel activity|positive regulation of cardioblast differentiation|positive regulation of cell proliferation|positive regulation of heart contraction|positive regulation of neuron differentiation|positive regulation of sodium ion transport|positive regulation of survival gene product expression|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of cardiac muscle contraction|right ventricular cardiac muscle tissue morphogenesis|septum secundum development|spleen development|thyroid gland development|vasculogenesis|ventricular septum morphogenesis		chromatin binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)	12	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GTAGGGCGCCGAGTCCCCTAG	0.726000													6	6					5.9392e-07	6.20822e-07	1	1	0
SMC1A	8243	broad.mit.edu	37	X	53441781	53441781	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chrX:53441781G>A	ENST00000322213.4	-	3	464	c.337C>T	c.(337-339)Caa>Taa	p.Q113*	SMC1A_ENST00000375340.6_Nonsense_Mutation_p.Q113*	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	113					cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						TCATGTAGTTGGACCACTTTG	0.448000													18	49					0	0	1	0	0
CCDC24	149473	broad.mit.edu	37	1	44457917	44457917	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr1:44457917C>G	ENST00000372318.3	+	3	331	c.160C>G	c.(160-162)Cga>Gga	p.R54G	SLC6A9_ENST00000372306.3_Intron|SLC6A9_ENST00000372307.3_Intron|CCDC24_ENST00000479055.1_3'UTR	NM_152499.1	NP_689712.1	Q8N4L8	CCD24_HUMAN	coiled-coil domain containing 24	54										endometrium(3)|large_intestine(2)|lung(3)|stomach(1)	9	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				CCAAGAGGCTCGATCCTCTCA	0.642000													19	29					0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187524787	187524787	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr4:187524787G>C	ENST00000441802.2	-	19	11102	c.10893C>G	c.(10891-10893)atC>atG	p.I3631M		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3631	Cadherin 33.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TGACTTGTCTGATATGCACTG	0.502000										HNSCC(5;0.00058)			27	10					0	0	1	0	0
CDCP2	200008	broad.mit.edu	37	1	54605681	54605681	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr1:54605681G>A	ENST00000371330.1	-	4	1709	c.862C>T	c.(862-864)Cgc>Tgc	p.R288C		NM_201546.2	NP_963840.2	Q5VXM1	CDCP2_HUMAN	CUB domain containing protein 2	288	CUB 3.					extracellular region				kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						GGGGGCAGGCGGATGGTCCAG	0.612000													3	28					0	0	1	0	0
F7	2155	broad.mit.edu	37	13	113768192	113768192	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr13:113768192G>C	ENST00000375581.3	+	5	383	c.348G>C	c.(346-348)caG>caC	p.Q116H	F7_ENST00000473085.1_3'UTR|F7_ENST00000541084.1_Missense_Mutation_p.Q47H|F7_ENST00000346342.3_Missense_Mutation_p.Q94H	NM_000131.4	NP_000122.1	P08709	FA7_HUMAN	coagulation factor VII (serum prothrombin conversion accelerator)	116	EGF-like 1; calcium-binding (Potential).				anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity			large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	GTCCATGCCAGAATGGGGGCT	0.592000													10	39					0	0	1	0	0
TICRR	90381	broad.mit.edu	37	15	90152147	90152147	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr15:90152147G>C	ENST00000268138.7	+	15	2941	c.2836G>C	c.(2836-2838)Gag>Cag	p.E946Q	KIF7_ENST00000558928.1_5'UTR|TICRR_ENST00000560985.1_Missense_Mutation_p.E945Q					TOPBP1-interacting checkpoint and replication regulator																		GGATGGTCTAGAGGATAAACT	0.413000													18	15					0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33330336	33330336	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr20:33330336C>G	ENST00000374796.2	-	12	6294	c.3724G>C	c.(3724-3726)Gaa>Caa	p.E1242Q	NCOA6_ENST00000359003.2_Missense_Mutation_p.E1242Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1242	NCOA1-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						TTGAGTCTTTCTGGTGACAGA	0.493000													53	80					0	0	1	0	0
GRAMD1B	57476	broad.mit.edu	37	11	123477374	123477374	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr11:123477374G>C	ENST00000529750.1	+	10	1279	c.952G>C	c.(952-954)Gag>Cag	p.E318Q	GRAMD1B_ENST00000322282.7_Missense_Mutation_p.E318Q|GRAMD1B_ENST00000456860.2_Missense_Mutation_p.E325Q	NM_020716.1	NP_065767.1	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	318						integral to membrane				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		CCTGGAAAAGGAGCTCGCCAT	0.562000													12	8					0	0	1	0	0
MTX2	10651	broad.mit.edu	37	2	177135091	177135091	+	Translation_Start_Site	SNP	A	A	T			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr2:177135091A>T	ENST00000392529.2	+	0	359				MTX2_ENST00000443241.1_Intron|MTX2_ENST00000249442.6_Intron			O75431	MTX2_HUMAN	metaxin 2						protein targeting to mitochondrion	mitochondrial outer membrane				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.00365)|Epithelial(96;0.0654)|all cancers(119;0.181)			TTAAATCTGCATGTACTTTAA	0.418000													17	6					0	0	1	0	0
KIF12	113220	broad.mit.edu	37	9	116856718	116856718	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr9:116856718C>G	ENST00000374118.3	-	9	960	c.723G>C	c.(721-723)caG>caC	p.Q241H	KIF12_ENST00000473174.1_5'UTR	NM_138424.1	NP_612433.1	Q96FN5	KIF12_HUMAN	kinesin family member 12	374	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	17						AACGCTGGGGCTGCTTTGCCA	0.557000													24	9					0	0	1	0	0
FBXO11	80204	broad.mit.edu	37	2	48061940	48061940	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr2:48061940C>T	ENST00000403359.3	-	6	860	c.788G>A	c.(787-789)aGa>aAa	p.R263K	FBXO11_ENST00000316377.4_Missense_Mutation_p.R179K|FBXO11_ENST00000402508.1_Missense_Mutation_p.R179K	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	F-box protein 11	263					ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding	p.0?(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CATATTTTCTCTTCCTTTATA	0.284000			"""Mis, F, D"""		DLBCL								26	6					0	0	1	0	0
C8orf74	203076	broad.mit.edu	37	8	10557865	10557865	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr8:10557865C>G	ENST00000304519.5	+	4	798	c.769C>G	c.(769-771)Ctg>Gtg	p.L257V	RP1L1_ENST00000329335.3_Intron	NM_001040032.1	NP_001035121	Q6P047	CH074_HUMAN	chromosome 8 open reading frame 74	257										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13				COAD - Colon adenocarcinoma(149;0.0811)		GAAGAAGACTCTGAACCTCAA	0.602000													23	5					0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23908850	23908850	+	Silent	SNP	G	G	C			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr13:23908850G>C	ENST00000382298.3	-	10	9753	c.9165C>G	c.(9163-9165)gtC>gtG	p.V3055V	SACS_ENST00000402364.1_Silent_p.V2305V|SACS_ENST00000382292.3_Silent_p.V3055V	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	3055					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TCAGCCTATAGACATTCTCTG	0.328000													14	12					0	0	1	0	0
TH	7054	broad.mit.edu	37	11	2186500	2186500	+	Silent	SNP	G	G	A			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr11:2186500G>A	ENST00000381178.1	-	13	1407	c.1389C>T	c.(1387-1389)ttC>ttT	p.F463F	TH_ENST00000333684.5_Silent_p.F342F|TH_ENST00000352909.3_Silent_p.F432F|TH_ENST00000381175.1_Silent_p.F459F	NM_199292.2	NP_954986.2	P07101	TY3H_HUMAN	tyrosine hydroxylase	463					dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception	cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum	protein binding|tyrosine 3-monooxygenase activity			NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	TCTCAGACACGAAGTAGACTG	0.632000													8	46					0	0	1	0	0
EDC4	23644	broad.mit.edu	37	16	67915918	67915918	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr16:67915918G>C	ENST00000358933.5	+	23	3305	c.3066G>C	c.(3064-3066)caG>caC	p.Q1022H		NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	1022					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		TGCAGGAGCAGCTGACACAAC	0.627000													12	10					0	0	1	0	0
NXN	64359	broad.mit.edu	37	17	706928	706928	+	Silent	SNP	G	G	A			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr17:706928G>A	ENST00000336868.3	-	7	1210	c.1119C>T	c.(1117-1119)gcC>gcT	p.A373A	NXN_ENST00000575801.1_Silent_p.A265A|NXN_ENST00000537628.2_Silent_p.A124A|NXN_ENST00000538650.1_Silent_p.A64A	NM_022463.4	NP_071908.2	Q6DKJ4	NXN_HUMAN	nucleoredoxin	373					cell differentiation|cell redox homeostasis|multicellular organismal development|Wnt receptor signaling pathway	cytosol|nucleus	protein-disulfide reductase activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (25;0.0237)		TCACCTCCCCGGCTACGAAGA	0.602000													37	11					0	0	1	0	0
FOXQ1	94234	broad.mit.edu	37	6	1313520	1313520	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr6:1313520G>A	ENST00000296839.2	+	1	846	c.581G>A	c.(580-582)tGg>tAg	p.W194*		NM_033260.3	NP_150285.3	Q9C009	FOXQ1_HUMAN	forkhead box Q1	194					DNA fragmentation involved in apoptotic nuclear change|embryo development|hair follicle morphogenesis|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin conjugating enzyme binding			lung(1)|urinary_tract(1)	2	Ovarian(93;0.0733)	Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18)		GACAACTACTGGATGCTCAAC	0.701000													28	9					0	0	1	0	0
C1QL1	10882	broad.mit.edu	37	17	43037637	43037637	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr17:43037637G>C	ENST00000253407.3	-	2	718	c.696C>G	c.(694-696)atC>atG	p.I232M		NM_006688.3	NP_006679.1	O75973	C1QRF_HUMAN	complement component 1, q subcomponent-like 1	232	C1q.				locomotory behavior	collagen				lung(1)|prostate(1)	2		Prostate(33;0.155)				CATCCAGCTTGATGAAGACCT	0.597000													33	45					0	0	1	0	0
PRKD1	5587	broad.mit.edu	37	14	30105701	30105701	+	Splice_Site	SNP	C	C	G			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr14:30105701C>G	ENST00000331968.5	-	7	1215		c.e7-1		PRKD1_ENST00000415220.2_Splice_Site|PRKD1_ENST00000551644.1_Splice_Site	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1						cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		CTAAGCAAATCTAGAAAATTA	0.443000													12	18					0	0	1	0	0
PTPRN2	5799	broad.mit.edu	37	7	157931069	157931069	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr7:157931069C>T	ENST00000389413.3	-	7	1152	c.1049G>A	c.(1048-1050)gGc>gAc	p.G350D	PTPRN2_ENST00000389418.4_Missense_Mutation_p.G350D|PTPRN2_ENST00000409483.1_Missense_Mutation_p.G312D|PTPRN2_ENST00000389416.4_Missense_Mutation_p.G333D|PTPRN2_ENST00000404321.2_Missense_Mutation_p.G373D	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	350						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		CCCAGGGCTGCCTCGAGCTAC	0.667000													25	29					0	0	1	0	0
KSR2	283455	broad.mit.edu	37	12	117909020	117909020	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr12:117909020C>G	ENST00000425217.1	-	18	2655	c.2601G>C	c.(2599-2601)caG>caC	p.Q867H	KSR2_ENST00000339824.5_Missense_Mutation_p.Q896H|KSR2_ENST00000302438.5_3'UTR	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	896	Protein kinase.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCATGCCAATCTGGCTGAGGT	0.507000													11	10					0	0	1	0	0
ADH1C	126	broad.mit.edu	37	4	100273877	100273877	+	RNA	SNP	G	G	C			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr4:100273877G>C	ENST00000510055.1	-	0	10				ADH1C_ENST00000515683.1_RNA			P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	GTGAGTACTTGTGGATTTCTT	0.378000													34	6					0	0	1	0	0
KCNN3	3782	broad.mit.edu	37	1	154794616	154794616	+	Silent	SNP	G	G	A			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr1:154794616G>A	ENST00000271915.4	-	2	1293	c.978C>T	c.(976-978)tcC>tcT	p.S326S	KCNN3_ENST00000358505.2_Silent_p.S13S|KCNN3_ENST00000361147.4_Silent_p.S21S	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3							integral to membrane	calmodulin binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			GGATGATGGTGGACAGACTGA	0.542000													17	35					0	0	1	0	0
TSNAXIP1	55815	broad.mit.edu	37	16	67860138	67860138	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr16:67860138G>A	ENST00000388833.3	+	10	1443	c.1066G>A	c.(1066-1068)Gag>Aag	p.E356K	TSNAXIP1_ENST00000415766.3_Missense_Mutation_p.E341K|TSNAXIP1_ENST00000561639.1_Missense_Mutation_p.E410K	NM_018430.2	NP_060900.2	Q2TAA8	TXIP1_HUMAN	translin-associated factor X interacting protein 1	356					cell differentiation|multicellular organismal development|spermatogenesis	perinuclear region of cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|soft_tissue(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)		GCTCCTGGAAGAGATTGGTTC	0.642000													17	16					0	0	1	0	0
CADM2	253559	broad.mit.edu	37	3	85961687	85961687	+	Missense_Mutation	SNP	A	A	C			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr3:85961687A>C	ENST00000383699.3	+	6	1321	c.694A>C	c.(694-696)Ata>Cta	p.I232L	CADM2_ENST00000407528.2_Missense_Mutation_p.I223L|CADM2_ENST00000405615.2_Missense_Mutation_p.I225L	NM_001167675.1|NM_001256504.1|NM_001256505.1	NP_001161147.1|NP_001243433.1|NP_001243434.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	223	Ig-like C2-type 2.				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		GGTGCTAGAAATACACTGTAA	0.458000													16	12					0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36897843	36897843	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr3:36897843C>T	ENST00000301807.6	-	12	3485	c.1588G>A	c.(1588-1590)Gga>Aga	p.G530R	TRANK1_ENST00000428977.2_Missense_Mutation_p.G530R|TRANK1_ENST00000429976.2_Missense_Mutation_p.G1080R			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1080					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CTCTCTTTTCCGGGTTCCACT	0.502000													2	2					0	0	1	0	0
KRTAP19-7	337974	broad.mit.edu	37	21	31933535	31933535	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr21:31933535T>C	ENST00000334849.2	-	1	98	c.74A>G	c.(73-75)tAt>tGt	p.Y25C		NM_181614.1	NP_853645.1	Q3SYF9	KR197_HUMAN	keratin associated protein 19-7	25						intermediate filament				endometrium(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	11						TCCACAGCTATAGCCATAGCC	0.562000													3	63					0	0	1	0	0
ZNF800	168850	broad.mit.edu	37	7	127013783	127013783	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr7:127013783C>A	ENST00000393313.1	-	5	2198	c.1607G>T	c.(1606-1608)cGa>cTa	p.R536L	ZNF800_ENST00000393312.1_Missense_Mutation_p.R536L|ZNF800_ENST00000265827.3_Missense_Mutation_p.R536L			Q2TB10	ZN800_HUMAN	zinc finger protein 800	536					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						AGTTATATGTCGTATCACATC	0.348000													30	60					2.4375e-19	2.64945e-19	1	1	0
MYO1F	4542	broad.mit.edu	37	19	8615059	8615059	+	Silent	SNP	G	G	A			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr19:8615059G>A	ENST00000338257.8	-	10	1353	c.1086C>T	c.(1084-1086)ttC>ttT	p.F362F		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	362	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						CGAGGAAGTCGAAGAGGCGGG	0.632000													8	11					0	0	1	0	0
HHIPL2	79802	broad.mit.edu	37	1	222717232	222717232	+	Silent	SNP	G	G	C			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr1:222717232G>C	ENST00000343410.6	-	2	679	c.621C>G	c.(619-621)ctC>ctG	p.L207L		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	207					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		CGCTCAGGCAGAGCTGCAGGC	0.602000													11	28					0	0	1	0	0
ARSG	22901	broad.mit.edu	37	17	66352854	66352854	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr17:66352854G>A	ENST00000448504.2	+	6	1409	c.613G>A	c.(613-615)Gaa>Aaa	p.E205K	ARSG_ENST00000582154.1_3'UTR|ARSG_ENST00000452479.2_Missense_Mutation_p.E41K	NM_014960.4	NP_055775.2	Q96EG1	ARSG_HUMAN	arylsulfatase G	205					sulfur compound metabolic process	endoplasmic reticulum|extracellular space|lysosome	arylsulfatase activity|metal ion binding			NS(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	26			BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			CCCTCTTTATGAAAACCTCAA	0.498000													24	23					0	0	1	0	0
SLC45A1	50651	broad.mit.edu	37	1	8398033	8398033	+	Silent	SNP	C	C	T			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr1:8398033C>T	ENST00000471889.1	+	7	2140	c.1755C>T	c.(1753-1755)ttC>ttT	p.F585F	SLC45A1_ENST00000377479.2_Silent_p.F619F|SLC45A1_ENST00000289877.8_Silent_p.F585F			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	585					carbohydrate transport	integral to membrane	symporter activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		TCTACGCCTTCAGTGCTGCCT	0.587000													10	24					0	0	1	0	0
SNORD115-44	100033818	broad.mit.edu	37	15	25496072	25496072	+	RNA	SNP	G	G	C			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr15:25496072G>C	ENST00000365391.1	+	0	67					NR_003359.1																						TGCTCAATAGGATTACGCTGA	0.527000													50	164					0	0	1	0	0
ATP4A	495	broad.mit.edu	37	19	36045890	36045890	+	Silent	SNP	G	G	A			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr19:36045890G>A	ENST00000262623.3	-	16	2443	c.2415C>T	c.(2413-2415)atC>atT	p.I805I		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	805					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	CGCTGACGGTGATGTAGATGA	0.547000													17	34					0	0	1	0	0
MTCH2	23788	broad.mit.edu	37	11	47663976	47663976	+	Silent	SNP	G	G	A			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr11:47663976G>A	ENST00000302503.3	-	1	199	c.42C>T	c.(40-42)ctC>ctT	p.L14L	MTCH2_ENST00000542981.1_5'UTR	NM_014342.3	NP_055157.1	Q9Y6C9	MTCH2_HUMAN	mitochondrial carrier 2	14					transport	integral to membrane|mitochondrial inner membrane				endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	11						ACAGGATGGTGAGACCGGAGC	0.697000													8	3					0	0	1	0	0
OMA1	115209	broad.mit.edu	37	1	58946806	58946806	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr1:58946806G>C	ENST00000371226.3	-	9	1519	c.1406C>G	c.(1405-1407)tCt>tGt	p.S469C	OMA1_ENST00000358603.2_Intron|DAB1_ENST00000485760.1_Intron	NM_145243.3	NP_660286.1	Q96E52	OMA1_HUMAN	OMA1 zinc metallopeptidase	469					proteolysis	integral to membrane|mitochondrial membrane	metal ion binding|metalloendopeptidase activity			NS(1)|breast(1)|large_intestine(6)|liver(2)|lung(6)|prostate(1)|skin(1)	18	all_cancers(7;6.54e-05)					GTCTGGATTAGACAGTGGTGG	0.308000													27	21					0	0	1	0	0
TNKS2	80351	broad.mit.edu	37	10	93572922	93572922	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr10:93572922C>G	ENST00000371627.4	+	2	761	c.382C>G	c.(382-384)Ctc>Gtc	p.L128V		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	128					positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding			biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				TTATACTCCTCTCCATGAAGC	0.378000													13	51					0	0	1	0	0
PSPH	5723	broad.mit.edu	37	7	56082739	56082739	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr7:56082739C>T	ENST00000395471.3	-	7	1352	c.547G>A	c.(547-549)Gat>Aat	p.D183N	PSPH_ENST00000459834.1_5'UTR|PSPH_ENST00000275605.3_Missense_Mutation_p.D183N			P78330	SERB_HUMAN	phosphoserine phosphatase	183					L-serine biosynthetic process	cytoplasm	calcium ion binding|magnesium ion binding|phosphoserine phosphatase activity|protein homodimerization activity	p.D183N(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(1)|skin(1)	11	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GCTTCCATATCTGTGGCACCA	0.303000													26	33					0	0	1	0	0
GPAA1	8733	broad.mit.edu	37	8	145139643	145139643	+	Silent	SNP	C	C	T			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr8:145139643C>T	ENST00000355091.4	+	8	1150	c.1029C>T	c.(1027-1029)ttC>ttT	p.F343F	GPAA1_ENST00000361036.6_Silent_p.F283F|GPAA1_ENST00000527144.1_3'UTR	NM_003801.3	NP_003792.1	O43292	GPAA1_HUMAN	glycosylphosphatidylinositol anchor attachment 1	343					attachment of GPI anchor to protein|C-terminal protein lipidation|protein complex assembly|protein retention in ER lumen	GPI-anchor transamidase complex	tubulin binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(2)	19	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			AGGGCATGTTCCGCAAGCTCA	0.652000													10	27					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64421572	64421572	+	Silent	SNP	G	G	C			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr14:64421572G>C	ENST00000358025.3	+	8	956	c.726G>C	c.(724-726)ctG>ctC	p.L242L	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000341472.5_Silent_p.L242L|SYNE2_ENST00000554584.1_Silent_p.L242L|SYNE2_ENST00000356081.3_Silent_p.L242L|SYNE2_ENST00000344113.4_Silent_p.L242L	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	242	Actin-binding.|CH 2.				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AAGACAATCTGAGAGAGGCCT	0.403000													39	55					0	0	1	0	0
IGFBP1	3484	broad.mit.edu	37	7	45931585	45931585	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr7:45931585G>C	ENST00000275525.3	+	3	870	c.574G>C	c.(574-576)Gag>Cag	p.E192Q	IGFBP1_ENST00000457280.1_Missense_Mutation_p.E192Q|IGFBP1_ENST00000468955.1_Intron	NM_000596.2	NP_000587.1	P08833	IBP1_HUMAN	insulin-like growth factor binding protein 1	192	Thyroglobulin type-1.					extracellular space	insulin-like growth factor binding			large_intestine(2)|lung(4)	6						CAAGGCACAGGAGACATCAGG	0.443000											OREG0018048	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	27					0	0	1	0	0
BPIFB4	149954	broad.mit.edu	37	20	31685590	31685590	+	Silent	SNP	C	C	T	rs146042993		TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr20:31685590C>T	ENST00000375483.3	+	11	1566	c.1566C>T	c.(1564-1566)gaC>gaT	p.D522D		NM_182519.2	NP_872325.2	P59827	LPLC4_HUMAN	BPI fold containing family B, member 4	522						cytoplasm|extracellular region	lipid binding										GCCTCATTGACGTGGTGAGTG	0.572000													13	13					0	0	1	0	0
ITGA3	3675	broad.mit.edu	37	17	48166536	48166536	+	Silent	SNP	C	C	T			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr17:48166536C>T	ENST00000007722.7	+	25	3108	c.3108C>T	c.(3106-3108)atC>atT	p.I1036I	ITGA3_ENST00000320031.8_3'UTR			P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	1033					blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						CAGTGCGGATCCGGGAGGAGG	0.567000													22	78					0	0	1	0	0
CNGA3	1261	broad.mit.edu	37	2	99013494	99013494	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr2:99013494G>A	ENST00000393504.1	+	8	2278	c.1861G>A	c.(1861-1863)Gcg>Acg	p.A621T	CNGA3_ENST00000436404.2_Missense_Mutation_p.A603T|CNGA3_ENST00000272602.2_Missense_Mutation_p.A621T|CNGA3_ENST00000409937.1_Missense_Mutation_p.A625T	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	621					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						CAGGGCGGGCGCGGACCCCAA	0.622000													11	3					0	0	1	0	0
SSU72	29101	broad.mit.edu	37	1	1480340	1480340	+	Silent	SNP	C	C	T			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr1:1480340C>T	ENST00000291386.3	-	3	578	c.267G>A	c.(265-267)aaG>aaA	p.K89K		NM_014188.2	NP_054907.1	Q9NP77	SSU72_HUMAN	SSU72 RNA polymerase II CTD phosphatase homolog (S. cerevisiae)	89					mRNA processing	cytoplasm|nucleus	phosphoprotein phosphatase activity			large_intestine(2)|lung(5)	7	all_cancers(77;0.00125)|all_epithelial(69;0.000703)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.03e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;5.04e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.72e-23)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;0.000188)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|BRCA - Breast invasive adenocarcinoma(365;0.00837)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		GCTTGATTCTCTTATTTCTGT	0.458000													68	65					0	0	1	0	0
PNPLA2	57104	broad.mit.edu	37	11	823704	823704	+	Silent	SNP	C	C	T			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr11:823704C>T	ENST00000336615.4	+	7	970	c.768C>T	c.(766-768)aaC>aaT	p.N256N	AP006621.8_ENST00000532946.1_RNA|AP006621.8_ENST00000528982.1_RNA	NM_020376.3	NP_065109.1	Q96AD5	PLPL2_HUMAN	patatin-like phospholipase domain containing 2	256					negative regulation of sequestering of triglyceride|positive regulation of triglyceride catabolic process	integral to membrane|lipid particle|plasma membrane	triglyceride lipase activity			breast(1)|endometrium(2)|lung(4)|prostate(1)|urinary_tract(1)	9		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.63e-25)|Epithelial(43;1.28e-24)|OV - Ovarian serous cystadenocarcinoma(40;7.09e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCCTCCTGAACCGGCCCAACC	0.711000													2	1					0	0	1	0	0
C8orf34	116328	broad.mit.edu	37	8	69400281	69400281	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr8:69400281G>A	ENST00000337103.4	+	4	2019	c.427G>A	c.(427-429)Gat>Aat	p.D143N	C8orf34_ENST00000518698.1_Missense_Mutation_p.D254N|C8orf34_ENST00000539993.1_Missense_Mutation_p.D168N|C8orf34_ENST00000348340.2_Missense_Mutation_p.D168N|C8orf34_ENST00000349492.3_3'UTR			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	168					signal transduction		cAMP-dependent protein kinase regulator activity			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			AGATGAACTCGATAAGGTAAG	0.274000													17	31					0	0	1	0	0
GHRHR	2692	broad.mit.edu	37	7	31014093	31014093	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr7:31014093C>G	ENST00000409904.3	+	5	867	c.609C>G	c.(607-609)ttC>ttG	p.F203L	GHRHR_ENST00000326139.2_Missense_Mutation_p.F267L|GHRHR_ENST00000409316.1_Missense_Mutation_p.R34G|GHRHR_ENST00000461424.1_3'UTR			Q02643	GHRHR_HUMAN	growth hormone releasing hormone receptor	267					activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding	p.F267F(1)		biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35					Sermorelin(DB00010)	AACTGGCCTTCGAGGACATCG	0.607000													11	15					0	0	1	0	0
CKMT2	1160	broad.mit.edu	37	5	80548581	80548581	+	Missense_Mutation	SNP	G	G	A	rs1063543		TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr5:80548581G>A	ENST00000424301.2	+	4	458	c.220G>A	c.(220-222)Gcc>Acc	p.A74T	CKMT2-AS1_ENST00000501927.2_RNA|CKMT2-AS1_ENST00000500148.2_RNA|CKMT2-AS1_ENST00000511495.1_RNA|CKMT2-AS1_ENST00000502041.2_RNA|CKMT2-AS1_ENST00000505295.1_RNA|CKMT2_ENST00000437669.1_Missense_Mutation_p.A74T|CKMT2-AS1_ENST00000512287.1_RNA|CKMT2-AS1_ENST00000503483.2_RNA|CKMT2_ENST00000254035.4_Missense_Mutation_p.A74T	NM_001825.2	NP_001816.2	P17540	KCRS_HUMAN	creatine kinase, mitochondrial 2 (sarcomeric)	74	Phosphagen kinase N-terminal.			A -> S (in Ref. 1; AAA60561).	creatine metabolic process|muscle contraction	mitochondrial inner membrane	ATP binding|creatine kinase activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(4)|urinary_tract(1)	17		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	Creatine(DB00148)	CGCCATTTATGCCAAGCTTCG	0.607000													19	15					0	0	1	0	0
XPO6	23214	broad.mit.edu	37	16	28116007	28116007	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr16:28116007C>T	ENST00000304658.5	-	21	3306	c.2806G>A	c.(2806-2808)Gcc>Acc	p.A936T	XPO6_ENST00000565698.1_Missense_Mutation_p.A922T	NM_015171.3	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	936					protein export from nucleus		protein binding|protein transporter activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						AACAGCTCGGCCTTCACATCA	0.607000													6	20					0	0	1	0	0
CDK9	1025	broad.mit.edu	37	9	130549050	130549050	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr9:130549050G>C	ENST00000373265.2	+	2	514	c.514G>C	c.(514-516)Gag>Cag	p.E172Q	CDK9_ENST00000480353.1_3'UTR|CDK9_ENST00000373264.4_Missense_Mutation_p.E55Q			P50750	CDK9_HUMAN	cyclin-dependent kinase 9	55	Protein kinase.				cell proliferation|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	transcription elongation factor complex	ATP binding|cyclin-dependent protein kinase activity|DNA binding|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			lung(1)	1						GATGGAAAACGAGAAGGAGGG	0.647000											OREG0019510	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	2					0	0	1	0	0
C9orf172	389813	broad.mit.edu	37	9	139740301	139740301	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr9:139740301G>A	ENST00000436881.1	+	1	1435	c.1435G>A	c.(1435-1437)Gag>Aag	p.E479K		NM_001080482.2	NP_001073951.2	C9J069	CI172_HUMAN	chromosome 9 open reading frame 172	479										endometrium(2)|large_intestine(1)|lung(6)	9						CGAGGTGCGGGAGCCGCGAGG	0.731000													5	2					0	0	1	0	0
ZNFX1	57169	broad.mit.edu	37	20	47870308	47870308	+	Silent	SNP	C	C	T			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr20:47870308C>T	ENST00000396105.1	-	11	3246	c.3000G>A	c.(2998-3000)ccG>ccA	p.P1000P	ZNFX1_ENST00000371754.4_Silent_p.P1000P|ZNFX1_ENST00000371752.1_Silent_p.P1000P	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1000							metal ion binding			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)			TGACAATCCTCGGCTCCACCT	0.542000													82	114					0	0	1	0	0
ITLN1	55600	broad.mit.edu	37	1	160853266	160853266	+	Silent	SNP	G	G	A			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr1:160853266G>A	ENST00000326245.3	-	3	224	c.109C>T	c.(109-111)Ctg>Ttg	p.L37L		NM_017625.2	NP_060095.2	Q8WWA0	ITLN1_HUMAN	intelectin 1 (galactofuranose binding)	37	Fibrinogen C-terminal.				positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CTTCTGGGCAGAGATGGAGAC	0.438000													36	40					0	0	1	0	0
SLC7A7	9056	broad.mit.edu	37	14	23282233	23282233	+	Silent	SNP	G	G	A			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr14:23282233G>A	ENST00000397532.3	-	2	900	c.375C>T	c.(373-375)ctC>ctT	p.L125L	SLC7A7_ENST00000554517.1_Intron|SLC7A7_ENST00000285850.7_Silent_p.L125L|SLC7A7_ENST00000555702.1_Silent_p.L125L|SLC7A7_ENST00000397528.4_Silent_p.L125L|SLC7A7_ENST00000397529.2_Silent_p.L125L			Q9UM01	YLAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 7	125					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.00741)		GCTCAATGATGAGCAGGGAGG	0.547000													37	71					0	0	1	0	0
PHKA1	5255	broad.mit.edu	37	X	71895936	71895936	+	Nonsense_Mutation	SNP	G	G	C			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chrX:71895936G>C	ENST00000373545.3	-	6	1040	c.602C>G	c.(601-603)tCa>tGa	p.S201*	PHKA1_ENST00000339490.3_Nonsense_Mutation_p.S201*|PHKA1_ENST00000373542.4_Nonsense_Mutation_p.S201*|PHKA1_ENST00000541944.1_Nonsense_Mutation_p.S201*|PHKA1_ENST00000373539.3_Nonsense_Mutation_p.S201*			P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	201					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			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)					CATTCCAACTGAACTGGCATT	0.408000													21	34					0	0	1	0	0
KCNJ12	3768	broad.mit.edu	37	17	21319816	21319816	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr17:21319816G>A	ENST00000583088.1	+	3	2057	c.1162G>A	c.(1162-1164)Gag>Aag	p.E388K	KCNJ12_ENST00000331718.5_Missense_Mutation_p.E388K	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12											NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		GAGCCGTGACGAGGAGGATGA	0.657000										Prostate(3;0.18)			6	101					0	0	1	0	0
HELZ2	85441	broad.mit.edu	37	20	62193648	62193648	+	Silent	SNP	G	G	A			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr20:62193648G>A	ENST00000467148.1	-	9	6459	c.6390C>T	c.(6388-6390)ctC>ctT	p.L2130L	HELZ2_ENST00000427522.2_Silent_p.L1561L	NM_001037335.2	NP_001032412.2			helicase with zinc finger 2, transcriptional coactivator																		TACCTCTGCAGAGGGGCTGCG	0.697000													6	1					0	0	1	0	0
INTS2	57508	broad.mit.edu	37	17	59945048	59945048	+	Missense_Mutation	SNP	T	T	G			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr17:59945048T>G	ENST00000444766.3	-	25	3560	c.3485A>C	c.(3484-3486)cAa>cCa	p.Q1162P	INTS2_ENST00000251334.6_Missense_Mutation_p.Q1154P	NM_020748.2	NP_065799	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	1162					snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding			NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						TTTACAGATTTGAGACCATCC	0.363000													40	39					0	0	1	0	0
OR8I2	120586	broad.mit.edu	37	11	55861032	55861032	+	Silent	SNP	G	G	T	rs145057566	byFrequency	TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr11:55861032G>T	ENST00000302124.2	+	1	280	c.249G>T	c.(247-249)gtG>gtT	p.V83V		NM_001003750.1	NP_001003750.1	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	83					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					AGGCATTGGTGAATTTCCAAT	0.393000													8	85					0.0381472	0.0382748	1	1	0
PRKD1	5587	broad.mit.edu	37	14	30105674	30105674	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr14:30105674C>G	ENST00000331968.5	-	7	1241	c.1012G>C	c.(1012-1014)Gat>Cat	p.D338H	PRKD1_ENST00000415220.2_Missense_Mutation_p.D346H|PRKD1_ENST00000551644.1_5'UTR	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	338					cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		ATGACCACATCAGACTCTGCC	0.463000													17	21					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	145018829	145018829	+	Translation_Start_Site	SNP	C	C	A			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr8:145018829C>A	ENST00000398774.2	-	1	76	c.3G>T	c.(1-3)atG>atT	p.M1I	PLEC_ENST00000436759.2_Intron|PLEC_ENST00000356346.3_Intron|PLEC_ENST00000527096.1_Intron|PLEC_ENST00000322810.4_Intron|PLEC_ENST00000354958.2_Intron	NM_201381.1	NP_958783.1	Q15149	PLEC_HUMAN	plectin	0	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCACGATCTTCATCGGGGACG	0.701000													5	12					0.014758	0.0149574	1	1	0
MIR509-1	574514	broad.mit.edu	37	X	146342068	146342068	+	RNA	SNP	C	C	G			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chrX:146342068C>G	ENST00000385265.1	-	0	75					NR_030236.1|NR_030586.1																						ATGCAGTACTCTACCCACAGA	0.448000													65	111					0	0	1	0	0
PRDM15	63977	broad.mit.edu	37	21	43256709	43256709	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr21:43256709G>C	ENST00000422911.1	-	9	1263	c.1162C>G	c.(1162-1164)Ctc>Gtc	p.L388V	PRDM15_ENST00000447207.2_Missense_Mutation_p.L351V|PRDM15_ENST00000538201.1_Missense_Mutation_p.L351V|PRDM15_ENST00000398548.1_Missense_Mutation_p.L388V|PRDM15_ENST00000269844.3_Missense_Mutation_p.L717V	NM_001282934.1	NP_001269863.1	P57071	PRD15_HUMAN	PR domain containing 15	717					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						CTGCTTGAGAGAATTAAGCTC	0.502000													23	71					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48311894	48311894	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr7:48311894C>A	ENST00000435803.1	+	17	2655	c.2631C>A	c.(2629-2631)ttC>ttA	p.F877L		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	877					transport	integral to membrane	ATP binding|ATPase activity	p.F822F(1)|p.F877F(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						CCCAGTTGTTCCATTCAGATT	0.333000													22	113					7.87624e-14	8.46908e-14	1	1	0
CSMD3	114788	broad.mit.edu	37	8	113326233	113326233	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr8:113326233G>A	ENST00000297405.5	-	49	7842	c.7598C>T	c.(7597-7599)tCa>tTa	p.S2533L	CSMD3_ENST00000343508.3_Missense_Mutation_p.S2493L|CSMD3_ENST00000455883.2_Missense_Mutation_p.S2429L|CSMD3_ENST00000352409.3_Missense_Mutation_p.S2463L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2533	CUB 14.					integral to membrane|plasma membrane				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						AAAAGCAGATGAATAATCCCC	0.333000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			16	29					0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16914285	16914285	+	Silent	SNP	G	G	A			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr1:16914285G>A	ENST00000430580.2	-	10	1388	c.501C>T	c.(499-501)gaC>gaT	p.D167D		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	167	NBPF 1.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		CCTCATCTTCGTCATTTTCTG	0.433000													8	419					0	0	1	0	0
GOLGB1	2804	broad.mit.edu	37	3	121416969	121416969	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr3:121416969C>T	ENST00000393667.3	-	13	2511	c.2401G>A	c.(2401-2403)Gaa>Aaa	p.E801K	GOLGB1_ENST00000340645.5_Missense_Mutation_p.E796K	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	796					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	p.E796K(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TGGATCTGTTCAGTGAGCAGG	0.418000													49	74					0	0	1	0	0
CPT2	1376	broad.mit.edu	37	1	53679056	53679056	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr1:53679056C>T	ENST00000371486.3	+	5	2281	c.1766C>T	c.(1765-1767)aCg>aTg	p.T589M	RP5-1024G6.2_ENST00000452466.1_RNA	NM_000098.2	NP_000089.1	P23786	CPT2_HUMAN	carnitine palmitoyltransferase 2	589					carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	mitochondrial inner membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	15					L-Carnitine(DB00583)|Perhexiline(DB01074)	GTCCTGTCCACGAGCACACTG	0.552000													30	65					0	0	1	0	0
PRND	23627	broad.mit.edu	37	20	4705354	4705354	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr20:4705354G>A	ENST00000305817.2	+	2	228	c.157G>A	c.(157-159)Gag>Aag	p.E53K		NM_012409.2	NP_036541.2	Q9UKY0	PRND_HUMAN	prion protein 2 (dublet)	53	Globular.				protein homooligomerization	anchored to membrane|plasma membrane				breast(3)|endometrium(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	13						CCAGGTGGCTGAGAACCGCCC	0.617000													6	15					0	0	1	0	0
KRT38	8687	broad.mit.edu	37	17	39594867	39594867	+	Splice_Site	SNP	G	G	T			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr17:39594867G>T	ENST00000246646.3	-	5	895	c.896C>A	c.(895-897)tCt>tAt	p.S299Y		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	299	Coil 2.|Rod.					intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				GATGCCTTCAGACTGGAGCAC	0.617000													22	53					1.2644e-06	1.31253e-06	1	1	0
ZNF676	163223	broad.mit.edu	37	19	22375890	22375890	+	Silent	SNP	G	G	A			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr19:22375890G>A	ENST00000397121.2	-	2	375	c.58C>T	c.(58-60)Ctg>Ttg	p.L20L		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	20	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L20M(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				AAAATGATCAGGTCTGGCTTA	0.403000													31	37					0	0	1	0	0
KRTAP13-3	337960	broad.mit.edu	37	21	31797952	31797952	+	Silent	SNP	C	C	G			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr21:31797952C>G	ENST00000390690.2	-	1	334	c.279G>C	c.(277-279)ctG>ctC	p.L93L		NM_181622.1	NP_853653.1	Q3SY46	KR133_HUMAN	keratin associated protein 13-3	93	5 X 10 AA approximate repeats.					intermediate filament				endometrium(1)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	14						CATGCATAGTCAGGCAAGAAT	0.567000													13	6					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113349775	113349775	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr8:113349775C>T	ENST00000297405.5	-	43	7082	c.6838G>A	c.(6838-6840)Gaa>Aaa	p.E2280K	CSMD3_ENST00000343508.3_Missense_Mutation_p.E2240K|CSMD3_ENST00000455883.2_Missense_Mutation_p.E2176K|CSMD3_ENST00000352409.3_Missense_Mutation_p.E2210K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2280	Sushi 12.					integral to membrane|plasma membrane				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						AGCATACCTTCACACCTTGGA	0.378000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			23	36					0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6202292	6202292	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr1:6202292C>T	ENST00000262450.3	-	15	2431	c.2332G>A	c.(2332-2334)Gtc>Atc	p.V778I	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	778	Helicase ATP-binding.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GTGTAGGTGACCACGTAGAAG	0.582000													18	62					0	0	1	0	0
LRRC37A6P	387646	broad.mit.edu	37	10	27536897	27536897	+	RNA	SNP	G	G	A			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr10:27536897G>A	ENST00000574842.1	+	0	255				LRRC37A6P_ENST00000284414.4_RNA																							GATGCAGGTTGAAGAGAGGGG	0.348000													8	3					0	0	1	0	0
ALKBH5	54890	broad.mit.edu	37	17	18087900	18087900	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr17:18087900G>A	ENST00000399138.4	+	1	348	c.343G>A	c.(343-345)Gag>Aag	p.E115K	ALKBH5_ENST00000541285.1_Intron|RP11-258F1.1_ENST00000583062.1_RNA|RP11-258F1.1_ENST00000577847.1_RNA	NM_017758.3	NP_060228.3	Q6P6C2	ALKB5_HUMAN	alkB, alkylation repair homolog 5 (E. coli)	115						integral to membrane	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|skin(1)	10	all_neural(463;0.228)					GTCCCGCGCTGAGAAGGGCCT	0.647000													32	20					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)		GCACAAACACGCACCTCAAAG	0.542000	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)			10	7					0	0	1	0	0
PCID2	55795	broad.mit.edu	37	13	113834320	113834320	+	Silent	SNP	C	C	T	rs138849394	byFrequency	TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr13:113834320C>T	ENST00000375457.2	-	12	1487	c.891G>A	c.(889-891)gcG>gcA	p.A297A	PCID2_ENST00000375477.1_Silent_p.A299A|PCID2_ENST00000246505.5_Silent_p.A353A|PCID2_ENST00000375479.2_Silent_p.A299A|PCID2_ENST00000375459.1_Silent_p.A297A|PCID2_ENST00000337344.4_Silent_p.A299A|PCID2_ENST00000493650.1_5'UTR	NM_001258213.1	NP_001245142.1	Q5JVF3	PCID2_HUMAN	PCI domain containing 2	299	PCI.				negative regulation of apoptosis|negative regulation of cysteine-type endopeptidase activity|positive regulation of mitotic cell cycle spindle assembly checkpoint|positive regulation of transcription, DNA-dependent|regulation of mRNA stability|spleen development		protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)	20	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	all cancers(43;0.104)			CCTCGTGCTTCGCCAGCGCCT	0.557000													6	22					0	0	1	0	0
ADCY4	196883	broad.mit.edu	37	14	24787768	24787768	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr14:24787768C>T	ENST00000310677.4	-	26	3201	c.3088G>A	c.(3088-3090)Gag>Aag	p.E1030K	ADCY4_ENST00000418030.2_Missense_Mutation_p.E1030K|ADCY4_ENST00000554068.2_Missense_Mutation_p.E1030K	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	1030					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		GCTGTCTCCTCAGTCACCTAC	0.562000													13	27					0	0	1	0	0
ZNF711	7552	broad.mit.edu	37	X	84510742	84510742	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chrX:84510742T>C	ENST00000360700.4	+	4	1443	c.557T>C	c.(556-558)aTa>aCa	p.I186T	ZNF711_ENST00000542798.1_5'UTR|ZNF711_ENST00000395402.1_Missense_Mutation_p.I164T|ZNF711_ENST00000373165.3_Missense_Mutation_p.I186T|ZNF711_ENST00000276123.3_Missense_Mutation_p.I186T			Q9Y462	ZN711_HUMAN	zinc finger protein 711	186					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						ACAGTTACTATAAAAACCGAA	0.388000													23	41					0	0	1	0	0
SMEK1	55671	broad.mit.edu	37	14	91928522	91928522	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr14:91928522C>G	ENST00000554684.1	-	13	2492	c.1996G>C	c.(1996-1998)Gaa>Caa	p.E666Q	SMEK1_ENST00000555718.1_5'UTR|SMEK1_ENST00000555462.1_Missense_Mutation_p.E440Q|SMEK1_ENST00000428424.2_Missense_Mutation_p.E440Q|SMEK1_ENST00000337238.4_Missense_Mutation_p.E666Q|SMEK1_ENST00000554943.1_Missense_Mutation_p.E679Q	NM_001284280.1	NP_001271209.1	Q6IN85	P4R3A_HUMAN	SMEK homolog 1, suppressor of mek1 (Dictyostelium)	679						microtubule organizing center|nucleus	protein binding			NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1)	6		all_cancers(154;0.0691)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.221)		CACATCTCTTCTTCATCTTCT	0.368000													18	19					0	0	1	0	0
TMOD2	29767	broad.mit.edu	37	15	52069163	52069163	+	Silent	SNP	A	A	T			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr15:52069163A>T	ENST00000249700.4	+	5	662	c.441A>T	c.(439-441)ccA>ccT	p.P147P	TMOD2_ENST00000435126.2_Silent_p.P147P|TMOD2_ENST00000539962.2_Silent_p.P103P	NM_001142885.1|NM_014548.3	NP_001136357.1|NP_055363.1	Q9NZR1	TMOD2_HUMAN	tropomodulin 2 (neuronal)	147					nervous system development	cytoplasm|cytoskeleton	actin binding|tropomyosin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16				all cancers(107;0.00435)		TCAACAATCCAAAGTTCGATG	0.398000													13	36					0	0	1	0	0
GRID2	2895	broad.mit.edu	37	4	94436467	94436467	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr4:94436467G>C	ENST00000282020.4	+	13	2356	c.2098G>C	c.(2098-2100)Gag>Cag	p.E700Q	GRID2_ENST00000510992.1_Missense_Mutation_p.E605Q	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	700					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	GAATCCTTTTGAGAGGGACAG	0.483000													14	23					0	0	1	0	0
PML	5371	broad.mit.edu	37	15	74327616	74327616	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr15:74327616G>C	ENST00000268059.6	+	8	1910	c.1814G>C	c.(1813-1815)aGa>aCa	p.R605T	PML_ENST00000268058.3_Intron|PML_ENST00000565898.1_Intron|PML_ENST00000569477.1_Missense_Mutation_p.E618D|PML_ENST00000436891.3_3'UTR|PML_ENST00000569965.1_Intron|PML_ENST00000395135.3_Intron|PML_ENST00000395132.2_Intron|PML_ENST00000354026.6_Missense_Mutation_p.R557T|PML_ENST00000563500.1_3'UTR|PML_ENST00000359928.4_Intron|PML_ENST00000435786.2_3'UTR|PML_ENST00000564428.1_Intron	NM_033239.2|NM_033244.3	NP_150242.1|NP_150247.2	P29590	PML_HUMAN	promyelocytic leukemia	57					cell cycle arrest|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 resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						TCTCTGCTGAGAGCACAAGGA	0.687000			T	"""RARA, PAX5"""	"""APL, ALL"""								40	42					0	0	1	0	0
FNIP1	96459	broad.mit.edu	37	5	130987562	130987562	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr5:130987562G>A	ENST00000307968.7	-	15	3154	c.3155C>T	c.(3154-3156)tCc>tTc	p.S1052F	FNIP1_ENST00000307954.8_Missense_Mutation_p.S1035F|FNIP1_ENST00000510461.1_Missense_Mutation_p.S1080F|CTC-432M15.3_ENST00000514667.1_Intron	NM_001008738.2	NP_001008738			folliculin interacting protein 1											NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		AACAAGACTGGAAACCAATAC	0.383000													12	20					0	0	1	0	0
TMPRSS11F	389208	broad.mit.edu	37	4	68919738	68919738	+	Silent	SNP	G	G	A			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr4:68919738G>A	ENST00000356291.2	-	10	1265	c.1206C>T	c.(1204-1206)taC>taT	p.Y402Y	UBA6-AS1_ENST00000500538.2_RNA	NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	402	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						TACCTACAATGTACCAGATGT	0.373000													11	40					0	0	1	0	0
R3HDML	140902	broad.mit.edu	37	20	42972041	42972041	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr20:42972041G>A	ENST00000217043.2	+	3	577	c.405G>A	c.(403-405)atG>atA	p.M135I		NM_178491.2	NP_848586.1	Q9H3Y0	CRSPL_HUMAN	R3H domain containing-like	135						extracellular region	peptidase inhibitor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)	21		Myeloproliferative disorder(115;0.028)	COAD - Colon adenocarcinoma(18;0.00189)			TGGATCTCATGAAGTCCTGGT	0.612000													20	25					0	0	1	0	0
TAB1	10454	broad.mit.edu	37	22	39826219	39826219	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr22:39826219G>T	ENST00000216160.6	+	11	1569	c.1507G>T	c.(1507-1509)Gca>Tca	p.A503S	TAB1_ENST00000331454.3_Intron	NM_006116.2	NP_006107.1	Q15750	TAB1_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 1	503					activation of MAPK activity|activation of MAPKKK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane	catalytic activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						CGTGGTGACAGCACCGTAGGG	0.632000													17	32					3.45872e-05	3.56569e-05	1	1	0
JMY	133746	broad.mit.edu	37	5	78610324	78610324	+	Nonsense_Mutation	SNP	C	C	G			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr5:78610324C>G	ENST00000396137.4	+	9	2771	c.2309C>G	c.(2308-2310)tCa>tGa	p.S770*	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	770					'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		GAAGCCACCTCATTACCTCTC	0.458000													15	54					0	0	1	0	0
GABRR1	2569	broad.mit.edu	37	6	89888608	89888608	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr6:89888608G>C	ENST00000435811.1	-	9	1724	c.1270C>G	c.(1270-1272)Cag>Gag	p.Q424E	GABRR1_ENST00000369451.3_Missense_Mutation_p.Q354E|GABRR1_ENST00000454853.2_Missense_Mutation_p.Q441E	NM_001256703.1	NP_001243632.1	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	441					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Picrotoxin(DB00466)	CTGCTTCTCTGACTTTTCCTC	0.473000													44	8					0	0	1	0	0
TRIM33	51592	broad.mit.edu	37	1	114969902	114969902	+	Silent	SNP	C	C	T			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr1:114969902C>T	ENST00000358465.2	-	8	1400	c.1317G>A	c.(1315-1317)ttG>ttA	p.L439L	TRIM33_ENST00000450349.2_Silent_p.L47L|TRIM33_ENST00000369543.2_Silent_p.L439L	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	439					negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAATATGACGCAACTGGAAAG	0.358000			T	RET	papillary thyroid								30	37					0	0	1	0	0
C6orf211	79624	broad.mit.edu	37	6	151785644	151785644	+	Missense_Mutation	SNP	G	G	A	rs35734927		TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr6:151785644G>A	ENST00000367294.3	+	4	708	c.449G>A	c.(448-450)gGg>gAg	p.G150E	C6orf211_ENST00000545879.1_Missense_Mutation_p.G31E|C6orf211_ENST00000483931.1_3'UTR	NM_024573.1	NP_078849.1	Q9H993	CF211_HUMAN	chromosome 6 open reading frame 211	150			G -> E (in dbSNP:rs35734927).				protein binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(7)	15			BRCA - Breast invasive adenocarcinoma(37;0.183)	OV - Ovarian serous cystadenocarcinoma(155;5.27e-11)		AATTTCTATGGGTCACAGGAA	0.313000													44	11					0	0	1	0	0
MYH7B	57644	broad.mit.edu	37	20	33586200	33586200	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr20:33586200C>T	ENST00000262873.7	+	31	4068	c.3976C>T	c.(3976-3978)Cgt>Tgt	p.R1326C		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	1284						membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			AAGCACGCAGCGTGGGCGACT	0.652000													11	57					0	0	1	0	0
ZNF768	79724	broad.mit.edu	37	16	30537672	30537672	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr16:30537672C>G	ENST00000380412.5	-	1	238	c.63G>C	c.(61-63)atG>atC	p.M21I	ZNF768_ENST00000562803.1_Intron|ZNF747_ENST00000535210.1_Intron|ZNF747_ENST00000569360.1_Intron	NM_024671.3	NP_078947.3	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	21					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						CGGGGCTCCTCATTTCGTCAG	0.701000													6	14					0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2595329	2595329	+	Silent	SNP	C	C	T			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr12:2595329C>T	ENST00000399655.1	+	6	1082	c.817C>T	c.(817-819)Ctg>Ttg	p.L273L	CACNA1C_ENST00000347598.4_Silent_p.L273L|CACNA1C_ENST00000399617.1_Silent_p.L273L|CACNA1C_ENST00000480911.1_Silent_p.L273L|CACNA1C_ENST00000399641.1_Silent_p.L273L|CACNA1C_ENST00000406454.3_Silent_p.L273L|CACNA1C_ENST00000327702.7_Silent_p.L273L|CACNA1C_ENST00000399601.1_Silent_p.L273L|CACNA1C_ENST00000402845.3_Silent_p.L273L|CACNA1C_ENST00000399634.1_Silent_p.L273L|CACNA1C_ENST00000399595.1_Silent_p.L273L|CACNA1C_ENST00000335762.5_Silent_p.L273L|CACNA1C_ENST00000399597.1_Silent_p.L273L|CACNA1C_ENST00000399603.1_Silent_p.L273L|CACNA1C_ENST00000399637.1_Silent_p.L273L|CACNA1C_ENST00000399638.1_Silent_p.L273L|CACNA1C_ENST00000344100.3_Silent_p.L273L|CACNA1C_ENST00000399606.1_Silent_p.L273L|CACNA1C_ENST00000399644.1_Silent_p.L273L|CACNA1C_ENST00000399649.1_Silent_p.L273L|CACNA1C_ENST00000399629.1_Silent_p.L273L|CACNA1C_ENST00000399621.1_Silent_p.L273L|CACNA1C_ENST00000399591.1_Silent_p.L273L	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	273					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	GCACATCGCCCTGCTTGTGCT	0.567000													9	14					0	0	1	0	0
APEX1	328	broad.mit.edu	37	14	20925201	20925201	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr14:20925201C>T	ENST00000216714.3	+	5	759	c.491C>T	c.(490-492)tCg>tTg	p.S164L	APEX1_ENST00000557365.1_3'UTR|APEX1_ENST00000557054.1_Intron|APEX1_ENST00000398030.4_Missense_Mutation_p.S164L|APEX1_ENST00000555414.1_Missense_Mutation_p.S164L	NM_001244249.1|NM_001641.3	NP_001231178.1|NP_001632.2	P27695	APEX1_HUMAN	APEX nuclease (multifunctional DNA repair enzyme) 1	164					base-excision repair|DNA demethylation|DNA recombination|positive regulation of anti-apoptosis|positive regulation of DNA repair|regulation of mRNA stability|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|endoplasmic reticulum|mitochondrion|nuclear speck|nucleolus|perinuclear region of cytoplasm|ribosome	3'-5' exonuclease activity|chromatin DNA binding|damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|metal ion binding|oxidoreductase activity|phosphodiesterase I activity|protein binding|ribonuclease H activity|RNA binding|site-specific endodeoxyribonuclease activity, specific for altered base|transcription coactivator activity|transcription corepressor activity|uracil DNA N-glycosylase activity			breast(2)|endometrium(1)|large_intestine(4)|ovary(2)	9	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)	Lucanthone(DB04967)	GAATTTGACTCGTTTGTGCTG	0.468000								Other BER factors					11	18					0	0	1	0	0
DOCK8	81704	broad.mit.edu	37	9	340196	340196	+	Silent	SNP	C	C	T			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr9:340196C>T	ENST00000432829.2	+	14	1666	c.1350C>T	c.(1348-1350)atC>atT	p.I450I	DOCK8_ENST00000453981.1_Silent_p.I518I|DOCK8_ENST00000469391.1_Silent_p.I450I	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	518	DHR-1.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		CTCCAGAGATCATCAATTGCT	0.428000													31	10					0	0	1	0	0
TENM3	55714	broad.mit.edu	37	4	183676062	183676062	+	Silent	SNP	G	G	A			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr4:183676062G>A	ENST00000511685.1	+	22	4665	c.4542G>A	c.(4540-4542)gcG>gcA	p.A1514A	TENM3_ENST00000406950.2_Silent_p.A1514A|TENM3_ENST00000502950.1_3'UTR					teneurin transmembrane protein 3																		ATGAAGTTGCGTCTCCAACTG	0.383000													7	37					0	0	1	0	0
CENPF	1063	broad.mit.edu	37	1	214811246	214811246	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr1:214811246C>G	ENST00000366955.3	+	11	1652	c.1484C>G	c.(1483-1485)tCt>tGt	p.S495C		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	495					cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		AAGAGTCACTCTGAGCAAAAG	0.393000													27	39					0	0	1	0	0
PENK	5179	broad.mit.edu	37	8	57353950	57353950	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr8:57353950G>A	ENST00000314922.3	-	2	761	c.685C>T	c.(685-687)Cgg>Tgg	p.R229W	PENK_ENST00000451791.2_Missense_Mutation_p.R229W|PENK_ENST00000523274.1_Intron	NM_006211.3	NP_006202.1	P01210	PENK_HUMAN	proenkephalin	229					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity	p.R229W(1)		central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			CCTCCATACCGTTTCTGGTAG	0.517000													38	50					0	0	1	0	0
FAM153B	202134	broad.mit.edu	37	5	175528070	175528070	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr5:175528070G>A	ENST00000253490.4	+	11	640	c.583G>A	c.(583-585)Gag>Aag	p.E195K	FAM153B_ENST00000510151.1_Missense_Mutation_p.E118K|FAM153B_ENST00000515817.1_Missense_Mutation_p.E118K|FAM153B_ENST00000512862.1_Intron			P0C7A2	F153B_HUMAN	family with sequence similarity 153, member B	195										endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	16	all_cancers(89;0.00406)|Renal(175;0.000269)|Lung NSC(126;0.0103)|all_lung(126;0.0164)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Kidney(146;0.0965)		AGACCTGGAGGAGCATGGGCC	0.507000													32	90					0	0	1	0	0
RASSF3	283349	broad.mit.edu	37	12	65078617	65078617	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr12:65078617C>G	ENST00000542104.1	+	2	282	c.162C>G	c.(160-162)atC>atG	p.I54M	RASSF3_ENST00000336061.2_Missense_Mutation_p.I54M	NM_178169.3	NP_835463.1	Q86WH2	RASF3_HUMAN	Ras association (RalGDS/AF-6) domain family member 3	54					signal transduction	cytoplasm|microtubule	identical protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10			Lung(2;0.00133)|LUAD - Lung adenocarcinoma(6;0.0665)|LUSC - Lung squamous cell carcinoma(43;0.132)	GBM - Glioblastoma multiforme(28;0.0611)		AAGAGGAGATCAAAGAGAAAG	0.368000													12	42					0	0	1	0	0
DENND2A	27147	broad.mit.edu	37	7	140244441	140244441	+	Silent	SNP	G	G	A			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr7:140244441G>A	ENST00000275884.6	-	13	2721	c.2304C>T	c.(2302-2304)gtC>gtT	p.V768V	DENND2A_ENST00000492720.1_Silent_p.V768V|DENND2A_ENST00000496613.1_Silent_p.V768V|DENND2A_ENST00000537639.1_Silent_p.V768V			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	768	DENN.									breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					CAATGAAGATGACCCTCCTCT	0.557000													11	21					0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73679850	73679850	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr2:73679850G>C	ENST00000264448.6	+	8	6304	c.6193G>C	c.(6193-6195)Gat>Cat	p.D2065H	ALMS1_ENST00000377715.1_Missense_Mutation_p.D2065H|ALMS1_ENST00000409009.1_Missense_Mutation_p.D2023H	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2065	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		p.D2065Y(1)		breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GCCAGATAGAGATCAAAGTAA	0.373000													27	13					0	0	1	0	0
ZKSCAN5	23660	broad.mit.edu	37	7	99123476	99123476	+	Silent	SNP	G	G	A			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr7:99123476G>A	ENST00000394170.2	+	6	1064	c.813G>A	c.(811-813)caG>caA	p.Q271Q	ZKSCAN5_ENST00000326775.5_Silent_p.Q271Q|ZKSCAN5_ENST00000451158.1_Silent_p.Q271Q	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	271	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			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)					TAGTGAAGCAGATTTCTGATG	0.423000													35	60					0	0	1	0	0
ZNF768	79724	broad.mit.edu	37	16	30537307	30537307	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr16:30537307C>A	ENST00000380412.5	-	2	329	c.154G>T	c.(154-156)Gaa>Taa	p.E52*	ZNF768_ENST00000562803.1_Nonsense_Mutation_p.E21*|ZNF747_ENST00000535210.1_3'UTR|ZNF747_ENST00000569360.1_3'UTR	NM_024671.3	NP_078947.3	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	52					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						GGTATCTCTTCgacttcatag	0.517000													15	46					6.94344e-10	7.41293e-10	1	1	0
SLC36A3	285641	broad.mit.edu	37	5	150657068	150657068	+	Silent	SNP	G	G	A			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr5:150657068G>A	ENST00000335230.3	-	10	1710	c.1299C>T	c.(1297-1299)atC>atT	p.I433I	SLC36A3_ENST00000377713.3_Silent_p.I474I	NM_181774.3	NP_861439.3	Q495N2	S36A3_HUMAN	solute carrier family 36, member 3	433						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	21		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGCTAATCATGATGTCCTTGG	0.532000													27	41					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170088242	170088242	+	Missense_Mutation	SNP	G	G	A	rs149469954	byFrequency	TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr2:170088242G>A	ENST00000263816.3	-	31	5494	c.5209C>T	c.(5209-5211)Ctc>Ttc	p.L1737F		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1737	EGF-like 7.				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			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)	CAATTCAGGAGATCAGGAGAC	0.478000													65	20					0	0	1	0	0
AGTR1	185	broad.mit.edu	37	3	148459841	148459841	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr3:148459841G>A	ENST00000542281.1	+	4	1465	c.1019G>A	c.(1018-1020)cGc>cAc	p.R340H	AGTR1_ENST00000402260.1_Missense_Mutation_p.R340H|AGTR1_ENST00000349243.3_Missense_Mutation_p.R340H|AGTR1_ENST00000474935.1_Missense_Mutation_p.R340H|AGTR1_ENST00000404754.2_Missense_Mutation_p.R340H|AGTR1_ENST00000418473.2_Missense_Mutation_p.R340H|AGTR1_ENST00000475347.1_Missense_Mutation_p.R340H|AGTR1_ENST00000461609.1_Missense_Mutation_p.R340H|AGTR1_ENST00000497524.1_Missense_Mutation_p.R340H	NM_031850.3	NP_114038.4	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	340					calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	CTTTCCTACCGCCCCTCAGAT	0.383000													39	49					0	0	1	0	0
ZNF572	137209	broad.mit.edu	37	8	125987911	125987911	+	Nonsense_Mutation	SNP	C	C	G			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr8:125987911C>G	ENST00000319286.5	+	2	183	c.29C>G	c.(28-30)tCa>tGa	p.S10*		NM_152412.2	NP_689625.2	Q7Z3I7	ZN572_HUMAN	zinc finger protein 572	10					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			CTGTTGGTCTCAGATTCTAAC	0.388000										HNSCC(60;0.17)			21	37					0	0	1	0	0
RASSF8	11228	broad.mit.edu	37	12	26217828	26217828	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr12:26217828G>C	ENST00000405154.2	+	3	700	c.501G>C	c.(499-501)aaG>aaC	p.K167N	RASSF8_ENST00000282884.9_Missense_Mutation_p.K167N|RASSF8_ENST00000542865.1_Missense_Mutation_p.K167N|RASSF8_ENST00000541490.1_Missense_Mutation_p.K167N|RASSF8_ENST00000381352.3_Missense_Mutation_p.K167N	NM_001164748.1	NP_001158220.1	Q8NHQ8	RASF8_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 8	167					signal transduction					cervix(2)|endometrium(1)|large_intestine(6)|lung(15)|urinary_tract(1)	25	Colorectal(261;0.0847)					ATGAGTTGAAGAAGCTAATCC	0.368000													21	38					0	0	1	0	0
C3orf55	152078	broad.mit.edu	37	3	157289761	157289761	+	Silent	SNP	C	C	T			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr3:157289761C>T	ENST00000449199.2	+	4	372	c.231C>T	c.(229-231)ttC>ttT	p.F77F	C3orf55_ENST00000459838.1_Intron|C3orf55_ENST00000312275.5_Silent_p.F77F|C3orf55_ENST00000461040.1_Intron|C3orf55_ENST00000426338.2_Intron	NM_001130002.2	NP_001123474.1	A1A4F0	CC055_HUMAN	chromosome 3 open reading frame 55	77										breast(1)|lung(1)	2			Lung(72;0.0215)|LUSC - Lung squamous cell carcinoma(72;0.037)			CAGCCATCTTCGACATGAACA	0.328000													3	5					0	0	1	0	0
SAFB2	9667	broad.mit.edu	37	19	5604849	5604849	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr19:5604849G>C	ENST00000252542.4	-	10	1659	c.1395C>G	c.(1393-1395)atC>atG	p.I465M	SAFB2_ENST00000591310.1_5'UTR	NM_014649.2	NP_055464.1	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	465	RRM.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding			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)		GGAGATGGCTGATGCACTTGG	0.547000													8	15					0	0	1	0	0
DHRS2	10202	broad.mit.edu	37	14	24109080	24109080	+	Silent	SNP	G	G	A			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr14:24109080G>A	ENST00000250383.6	+	4	872	c.396G>A	c.(394-396)ggG>ggA	p.G132G	DHRS2_ENST00000553896.1_3'UTR|DHRS2_ENST00000344777.7_Silent_p.G132G	NM_005794.3	NP_005785.1	Q13268	DHRS2_HUMAN	dehydrogenase/reductase (SDR family) member 2	110					C21-steroid hormone metabolic process|cellular response to oxidative stress|myeloid dendritic cell differentiation|negative regulation of apoptosis|negative regulation of cell proliferation|response to toxin	mitochondrion|nuclear envelope	binding|carbonyl reductase (NADPH) activity			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00659)		GCACTCTGGGGACCAGTGAGC	0.657000													12	20					0	0	1	0	0
BAIAP3	8938	broad.mit.edu	37	16	1398202	1398202	+	Silent	SNP	C	C	T	rs149562350		TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr16:1398202C>T	ENST00000324385.5	+	33	3518	c.3360C>T	c.(3358-3360)ctC>ctT	p.L1120L	BAIAP3_ENST00000568887.1_Silent_p.L1057L|BAIAP3_ENST00000397489.1_Silent_p.L1102L|BAIAP3_ENST00000397488.2_Silent_p.L1102L|BAIAP3_ENST00000421665.2_Silent_p.L1049L|BAIAP3_ENST00000426824.3_Silent_p.L1085L|BAIAP3_ENST00000562208.1_Silent_p.L1062L	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	1120					G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				AGGCGGCCCTCGGCCTAGGTG	0.726000													5	2					0	0	1	0	0
UBR4	23352	broad.mit.edu	37	1	19518727	19518727	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr1:19518727C>A	ENST00000375267.2	-	11	1352	c.1349G>T	c.(1348-1350)cGt>cTt	p.R450L	UBR4_ENST00000375217.2_Missense_Mutation_p.R450L|UBR4_ENST00000375254.3_Missense_Mutation_p.R450L|UBR4_ENST00000375226.2_Missense_Mutation_p.R450L			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	450					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CTCTTTAGTACGAGAAAGGAT	0.453000													21	35					3.62473e-10	3.88364e-10	1	1	0
ATRNL1	26033	broad.mit.edu	37	10	117061384	117061384	+	Silent	SNP	G	G	A	rs149670730		TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr10:117061384G>A	ENST00000355044.3	+	17	2775	c.2649G>A	c.(2647-2649)gcG>gcA	p.A883A	ATRNL1_ENST00000423111.2_5'UTR	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	883						integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		ATCAAAATGCGAGGCCGTGCA	0.383000													4	43					0	0	1	0	0
NIPBL	25836	broad.mit.edu	37	5	37061085	37061085	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr5:37061085G>A	ENST00000282516.8	+	45	8324	c.7825G>A	c.(7825-7827)Gag>Aag	p.E2609K	NIPBL_ENST00000448238.2_Missense_Mutation_p.E2609K	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2609					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			AATCACAGAAGAGGTGAAAAG	0.368000													11	27					0	0	1	0	0
GYS2	2998	broad.mit.edu	37	12	21727083	21727083	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr12:21727083C>G	ENST00000261195.2	-	4	927	c.673G>C	c.(673-675)Gat>Cat	p.D225H		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	225					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			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						TTTACCTTATCAAGATGGTTG	0.413000													7	2					0	0	1	0	0
C8orf74	203076	broad.mit.edu	37	8	10555224	10555224	+	Silent	SNP	C	C	T	rs138937646	by1000genomes	TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr8:10555224C>T	ENST00000304519.5	+	3	386	c.357C>T	c.(355-357)atC>atT	p.I119I	RP1L1_ENST00000329335.3_Intron	NM_001040032.1	NP_001035121	Q6P047	CH074_HUMAN	chromosome 8 open reading frame 74	119										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13				COAD - Colon adenocarcinoma(149;0.0811)		ACACCTTCATCCGCCACTACA	0.597000													73	25					0	0	1	0	0
CCDC40	55036	broad.mit.edu	37	17	78073554	78073554	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr17:78073554G>C	ENST00000397545.4	+	20	3436	c.3409G>C	c.(3409-3411)Gag>Cag	p.E1137Q		NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	1137					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			CAACAAGCTCGAGTCACCAGG	0.597000													12	10					0	0	1	0	0
C10orf68	79741	broad.mit.edu	37	10	33134532	33134532	+	Silent	SNP	G	G	A	rs144540202	by1000genomes	TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr10:33134532G>A	ENST00000375030.2	+	16	1722	c.1104G>A	c.(1102-1104)acG>acA	p.T368T	C10orf68_ENST00000375028.3_Silent_p.T413T|C10orf68_ENST00000375025.4_Silent_p.T473T			Q9H943	CJ068_HUMAN	chromosome 10 open reading frame 68	409										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						AGTCAACCACGACACAATTAA	0.308000													36	20					0	0	1	0	0
CAMK2B	816	broad.mit.edu	37	7	44268481	44268481	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr7:44268481G>A	ENST00000395749.2	-	19	1458	c.1382C>T	c.(1381-1383)tCa>tTa	p.S461L	CAMK2B_ENST00000440254.2_Intron|CAMK2B_ENST00000489429.1_5'UTR|CAMK2B_ENST00000350811.3_Intron|CAMK2B_ENST00000358707.3_Intron|CAMK2B_ENST00000347193.4_Intron|CAMK2B_ENST00000502837.2_Intron|CAMK2B_ENST00000258682.6_Intron|CAMK2B_ENST00000353625.4_Intron|CAMK2B_ENST00000395747.2_Intron|CAMK2B_ENST00000346990.4_Intron|CAMK2B_ENST00000457475.1_Intron	NM_001220.4	NP_001211.3	Q13554	KCC2B_HUMAN	calcium/calmodulin-dependent protein kinase II beta	461					interferon-gamma-mediated signaling pathway|synaptic transmission	cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						TGGGGTTCCTGAACCCCTTCT	0.652000													6	7					0	0	1	0	0
GOLGA4	2803	broad.mit.edu	37	3	37367049	37367049	+	Silent	SNP	C	C	A	rs149481691		TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr3:37367049C>A	ENST00000361924.2	+	14	4046	c.3672C>A	c.(3670-3672)acC>acA	p.T1224T	GOLGA4_ENST00000356847.4_Silent_p.T1246T|GOLGA4_ENST00000444882.1_Intron	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	1224	Glu-rich.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GTAAGAAAACCGAAGCCTTAT	0.353000													13	45					0.00136819	0.00140088	1	1	0
FAM111A	63901	broad.mit.edu	37	11	58920551	58920551	+	Silent	SNP	T	T	C			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr11:58920551T>C	ENST00000528737.1	+	5	4228	c.1410T>C	c.(1408-1410)caT>caC	p.H470H	FAM111A_ENST00000531147.1_Silent_p.H470H|FAM111A_ENST00000533703.1_Silent_p.H470H|FAM111A_ENST00000361723.3_Silent_p.H470H|FAM111A_ENST00000420244.1_Silent_p.H470H			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	470					proteolysis		serine-type endopeptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				GGTTGATACATATTATTGGCC	0.418000													7	52					0	0	1	0	0
LINC00482	284185	broad.mit.edu	37	17	79278799	79278799	+	RNA	SNP	C	C	T			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr17:79278799C>T	ENST00000332012.5	-	0	794					NR_038080.1																						ATCTCCCTCCCTGGCCTCCAC	0.637000													4	5					0	0	1	0	0
CLTCL1	8218	broad.mit.edu	37	22	19263159	19263159	+	Silent	SNP	C	C	G			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr22:19263159C>G	ENST00000263200.10	-	2	309	c.237G>C	c.(235-237)gtG>gtC	p.V79V	CLTCL1_ENST00000353891.5_Silent_p.V79V|CLTCL1_ENST00000427926.1_Silent_p.V79V	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	79	Globular terminal domain.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					TCAGAGCTATCACCTTAGAGG	0.453000			T	?	ALCL								10	4					0	0	1	0	0
AGL	178	broad.mit.edu	37	1	100340299	100340299	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr1:100340299C>A	ENST00000294724.4	+	8	1493	c.1015C>A	c.(1015-1017)Cct>Act	p.P339T	AGL_ENST00000361302.3_Missense_Mutation_p.P323T|AGL_ENST00000361522.4_Missense_Mutation_p.P322T|AGL_ENST00000477753.1_3'UTR|AGL_ENST00000361915.3_Missense_Mutation_p.P339T|AGL_ENST00000370163.3_Missense_Mutation_p.P339T|AGL_ENST00000370165.3_Missense_Mutation_p.P339T|AGL_ENST00000370161.2_Missense_Mutation_p.P323T	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	339					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			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)		TATTCAAGATCCTGAATACAG	0.338000													23	31					1.55469e-16	1.68378e-16	1	1	0
TTPAL	79183	broad.mit.edu	37	20	43118121	43118121	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr20:43118121C>T	ENST00000372904.3	+	6	1111	c.968C>T	c.(967-969)tCa>tTa	p.S323L	TTPAL_ENST00000262605.4_Missense_Mutation_p.S323L|TTPAL_ENST00000372906.2_3'UTR	NM_024331.4	NP_077307.2	Q9BTX7	TTPAL_HUMAN	tocopherol (alpha) transfer protein-like	323						intracellular	transporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|skin(5)	18						GGCCTGACCTCAGATGCACAG	0.552000													13	18					0	0	1	0	0
NLRP7	199713	broad.mit.edu	37	19	55449552	55449552	+	Silent	SNP	G	G	C			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr19:55449552G>C	ENST00000588756.1	-	7	2475	c.1989C>G	c.(1987-1989)ctC>ctG	p.L663L	NLRP7_ENST00000448121.2_Intron|NLRP7_ENST00000340844.2_Silent_p.L663L|NLRP7_ENST00000328092.5_Intron|NLRP7_ENST00000590030.1_Silent_p.L663L|NLRP7_ENST00000446217.1_Silent_p.L691L|NLRP7_ENST00000592784.1_Silent_p.L663L			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	663							ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		AATCTGTCCAGAGGCGAAGAG	0.493000													40	59					0	0	1	0	0
ZBP1	81030	broad.mit.edu	37	20	56188316	56188316	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr20:56188316C>G	ENST00000340462.4	-	4	784	c.504G>C	c.(502-504)caG>caC	p.Q168H	ZBP1_ENST00000395822.3_Missense_Mutation_p.Q116H|ZBP1_ENST00000541799.1_Missense_Mutation_p.Q191H|ZBP1_ENST00000371173.3_Missense_Mutation_p.Q191H|ZBP1_ENST00000343535.4_Missense_Mutation_p.Q191H			Q9H171	ZBP1_HUMAN	Z-DNA binding protein 1	191						cytoplasm|nucleus	double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding|RNA binding			large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			TGGGTCCATTCTGGCAGATCA	0.438000													18	50					0	0	1	0	0
PGM5	5239	broad.mit.edu	37	9	71080113	71080113	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr9:71080113G>C	ENST00000396396.1	+	7	1377	c.1148G>C	c.(1147-1149)aGc>aCc	p.S383T	PGM5_ENST00000396392.1_Missense_Mutation_p.S383T	NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	383					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						GGGGAAGAGAGCTTTGGCACT	0.478000													39	10					0	0	1	0	0
CLCN1	1180	broad.mit.edu	37	7	143020477	143020477	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr7:143020477G>A	ENST00000343257.2	+	6	859	c.772G>A	c.(772-774)Gag>Aag	p.E258K	CLCN1_ENST00000495612.1_Intron	NM_000083.2	NP_000074	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	258					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					CGGGGTATATGAGGTAAGGTT	0.607000													17	32					0	0	1	0	0
DOPEY2	9980	broad.mit.edu	37	21	37665759	37665759	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr21:37665759G>A	ENST00000399151.3	+	37	6872	c.6787G>A	c.(6787-6789)Gat>Aat	p.D2263N		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	2263					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GCTGCCTGCTGATAGCCCAGG	0.463000													18	51					0	0	1	0	0
SCLY	51540	broad.mit.edu	37	2	239002529	239002529	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr2:239002529G>C	ENST00000254663.6	+	9	1115	c.973G>C	c.(973-975)Gag>Cag	p.E325Q	SCLY_ENST00000422984.2_Missense_Mutation_p.E223Q|SCLY_ENST00000429612.2_Missense_Mutation_p.E111Q|SCLY_ENST00000555827.1_Missense_Mutation_p.E317Q	NM_016510.5	NP_057594.4	Q96I15	SCLY_HUMAN	selenocysteine lyase	317					cellular amino acid metabolic process	cytosol	pyridoxal phosphate binding|selenocysteine lyase activity|transferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	22		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;1.37e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.6e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.25e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000128)|Lung(119;0.0118)|LUSC - Lung squamous cell carcinoma(224;0.0285)		CCAGAACTGCGAGGCTTATGA	0.597000													8	3					0	0	1	0	0
KRT19P2	160313	broad.mit.edu	37	12	95228684	95228684	+	RNA	SNP	C	C	T			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr12:95228684C>T	ENST00000405395.2	+	0	455					NR_036685.1																						GAGCTGCACTCGCAGCTCAGC	0.557000													3	4					0	0	1	0	0
KRT19P2	160313	broad.mit.edu	37	12	95228691	95228691	+	RNA	SNP	C	C	T			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr12:95228691C>T	ENST00000405395.2	+	0	462					NR_036685.1																						ACTCGCAGCTCAGCGTGAAAG	0.562000													4	5					0	0	1	0	0
OR5M3	219482	broad.mit.edu	37	11	56237896	56237896	+	Silent	SNP	G	G	A			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr11:56237896G>A	ENST00000312240.2	-	1	118	c.78C>T	c.(76-78)ttC>ttT	p.F26F		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	26					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)					GAAAGATGATGAAGAAGAGAA	0.423000													6	30					0	0	1	0	0
ZNF816	125893	broad.mit.edu	37	19	53454270	53454270	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr19:53454270C>G	ENST00000357666.4	-	5	1058	c.758G>C	c.(757-759)aGa>aCa	p.R253T	ZNF321P_ENST00000391777.3_Intron|ZNF816_ENST00000434371.2_Intron|ZNF816_ENST00000444460.2_Missense_Mutation_p.R253T	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816	253					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						TTCTCTCTCTCTTGAATGGGT	0.363000													82	67					0	0	1	0	0
CHRNA5	1138	broad.mit.edu	37	15	78882861	78882861	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr15:78882861G>C	ENST00000299565.5	+	5	1328	c.1128G>C	c.(1126-1128)caG>caC	p.Q376H	CHRNA5_ENST00000559554.1_Intron|RP11-650L12.2_ENST00000567141.1_RNA	NM_000745.3	NP_000736.2	P30532	ACHA5_HUMAN	cholinergic receptor, nicotinic, alpha 5 (neuronal)	376					behavioral response to nicotine	cell junction|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)|skin(3)	15						ACTTCACTCAGAAAGAGGAAA	0.443000													14	50					0	0	1	0	0
OR8H1	219469	broad.mit.edu	37	11	56058154	56058154	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr11:56058154G>C	ENST00000313022.2	-	1	412	c.385C>G	c.(385-387)Cta>Gta	p.L129V		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	129					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					GGGTAACGTAGAGGACTGCAG	0.443000													10	51					0	0	1	0	0
KIAA0907	22889	broad.mit.edu	37	1	155891351	155891351	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr1:155891351G>A	ENST00000368320.3	-	10	1106	c.1081C>T	c.(1081-1083)Cag>Tag	p.Q361*	KIAA0907_ENST00000482337.1_Intron|KIAA0907_ENST00000368321.3_Nonsense_Mutation_p.Q361*|KIAA0907_ENST00000368319.3_Intron			Q7Z7F0	K0907_HUMAN	KIAA0907	361	Pro-rich.									breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			TAACCAGACTGATAGCCATTG	0.488000													25	47					0	0	1	0	0
SLC27A1	376497	broad.mit.edu	37	19	17615416	17615416	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr19:17615416C>G	ENST00000252595.7	+	12	2033	c.1936C>G	c.(1936-1938)Ctc>Gtc	p.L646V	SLC27A1_ENST00000442725.1_Missense_Mutation_p.L646V|SLC27A1_ENST00000598424.1_Missense_Mutation_p.L467V|CTD-3131K8.2_ENST00000596643.1_lincRNA	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN	solute carrier family 27 (fatty acid transporter), member 1	646					cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport	endomembrane system|integral to membrane	fatty acid transporter activity|nucleotide binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						CGCCTTCGCCCTCTGAAGCTG	0.622000													6	26					0	0	1	0	0
ZSCAN29	146050	broad.mit.edu	37	15	43658368	43658368	+	Silent	SNP	G	G	A			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr15:43658368G>A	ENST00000396976.2	-	3	1296	c.1162C>T	c.(1162-1164)Cta>Tta	p.L388L	ZSCAN29_ENST00000562072.1_Silent_p.L387L|ZSCAN29_ENST00000396972.1_Intron|ZSCAN29_ENST00000568898.1_Intron	NM_152455.3	NP_689668.3	Q8IWY8	ZSC29_HUMAN	zinc finger and SCAN domain containing 29	388					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.97e-07)		GTCGCCTCTAGATCCATGTCA	0.552000													12	36					0	0	1	0	0
FAM83H	286077	broad.mit.edu	37	8	144808837	144808837	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr8:144808837C>G	ENST00000388913.3	-	5	2919	c.2794G>C	c.(2794-2796)Gag>Cag	p.E932Q		NM_198488.3	NP_940890	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	932					biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CCCCTGCGCTCCGGCACGGGG	0.746000													7	7					0	0	1	0	0
CATSPERB	79820	broad.mit.edu	37	14	92150284	92150284	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr14:92150284C>T	ENST00000256343.3	-	11	1024	c.868G>A	c.(868-870)Gac>Aac	p.D290N		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	290					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				TTCACATAGTCAACCTACATA	0.264000													21	61					0	0	1	0	0
CHSY1	22856	broad.mit.edu	37	15	101718925	101718925	+	Silent	SNP	A	A	G			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr15:101718925A>G	ENST00000254190.3	-	3	1552	c.1077T>C	c.(1075-1077)ccT>ccC	p.P359P	CHSY1_ENST00000543813.1_5'UTR	NM_014918.4	NP_055733.2	Q86X52	CHSS1_HUMAN	chondroitin sulfate synthase 1	359			P -> S (in dbSNP:rs3743193).		chondroitin sulfate biosynthetic process	Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TGAAGGAGGGAGGGATTCCCA	0.522000													9	21					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38783857	38783857	+	Silent	SNP	C	C	T			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr3:38783857C>T	ENST00000449082.2	-	13	2030	c.2031G>A	c.(2029-2031)gtG>gtA	p.V677V		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	677					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	AGATGGTGTTCACCACGATGC	0.547000													21	31					0	0	1	0	0
LONRF3	79836	broad.mit.edu	37	X	118148221	118148221	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chrX:118148221C>T	ENST00000304778.7	+	9	2066	c.1903C>T	c.(1903-1905)Cag>Tag	p.Q635*	LONRF3_ENST00000371628.3_Nonsense_Mutation_p.Q676*|LONRF3_ENST00000422289.2_Nonsense_Mutation_p.Q420*|LONRF3_ENST00000472173.1_3'UTR	NM_024778.4	NP_079054.3	Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger 3	676	Lon.				proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						CTGTGTCTATCAGCAAGCATC	0.443000													53	103					0	0	1	0	0
INTS2	57508	broad.mit.edu	37	17	59945029	59945029	+	Silent	SNP	A	A	C			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr17:59945029A>C	ENST00000444766.3	-	25	3579	c.3504T>G	c.(3502-3504)tcT>tcG	p.S1168S	INTS2_ENST00000251334.6_Silent_p.S1160S	NM_020748.2	NP_065799	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	1168					snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding			NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						CATTTTTATAAGATGAATCTT	0.343000													37	37					0	0	1	0	0
SH3PXD2B	285590	broad.mit.edu	37	5	171765850	171765850	+	Silent	SNP	C	C	T			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr5:171765850C>T	ENST00000311601.5	-	13	2429	c.2259G>A	c.(2257-2259)caG>caA	p.Q753Q	SH3PXD2B_ENST00000519643.1_Intron	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	753	Pro-rich.				adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CCACAGGTCTCTGCTGGGGAG	0.607000													14	30					0	0	1	0	0
OR6F1	343169	broad.mit.edu	37	1	247875139	247875139	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr1:247875139C>T	ENST00000302084.2	-	1	966	c.919G>A	c.(919-921)Gga>Aga	p.G307R	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	307					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			ATTTATTTTCCCTTCCATTTC	0.423000													27	45					0	0	1	0	0
TANC1	85461	broad.mit.edu	37	2	160086761	160086761	+	Silent	SNP	C	C	T			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr2:160086761C>T	ENST00000263635.6	+	27	5061	c.4824C>T	c.(4822-4824)cgC>cgT	p.R1608R	TANC1_ENST00000454300.1_Silent_p.R1502R	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	1608						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						AGAATGTCCGCCTGCAGTGTG	0.567000													22	5					0	0	1	0	0
ANO1	55107	broad.mit.edu	37	11	70007395	70007395	+	Silent	SNP	C	C	A			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr11:70007395C>A	ENST00000355303.5	+	17	2012	c.1707C>A	c.(1705-1707)gtC>gtA	p.V569V	ANO1_ENST00000316296.5_Silent_p.V511V|ANO1_ENST00000538023.1_Silent_p.V569V|ANO1_ENST00000530676.1_Silent_p.V423V|ANO1_ENST00000398543.2_Silent_p.V423V|ANO1_ENST00000531349.1_Silent_p.V278V	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	569					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						CCACCGCAGTCATCATCAACC	0.582000													646	51					0	0	1	1	0
FAM83H	286077	broad.mit.edu	37	8	144808838	144808838	+	Silent	SNP	C	C	T			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr8:144808838C>T	ENST00000388913.3	-	5	2918	c.2793G>A	c.(2791-2793)ccG>ccA	p.P931P		NM_198488.3	NP_940890	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	931					biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CCCTGCGCTCCGGCACGGGGG	0.741000													6	7					0	0	1	0	0
AK5	26289	broad.mit.edu	37	1	77806202	77806202	+	Silent	SNP	G	G	A			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr1:77806202G>A	ENST00000344720.5	+	6	1788	c.762G>A	c.(760-762)caG>caA	p.Q254Q	AK5_ENST00000354567.2_Silent_p.Q280Q	NM_012093.3	NP_036225.2	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	280					ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						ACTTCAAGCAGAATGCTGCTC	0.438000													25	37					0	0	1	0	0
FBF1	85302	broad.mit.edu	37	17	73909787	73909787	+	Silent	SNP	C	C	T			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr17:73909787C>T	ENST00000586717.1	-	27	3471	c.3198G>A	c.(3196-3198)caG>caA	p.Q1066Q	RP11-552F3.12_ENST00000587556.1_Silent_p.Q8Q|FBF1_ENST00000389570.4_Silent_p.Q1067Q|FBF1_ENST00000319129.5_Silent_p.Q1066Q			A6NLR5	A6NLR5_HUMAN	Fas (TNFRSF6) binding factor 1	1066										large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						ACTCACCACTCTGGCTGGAGG	0.692000													7	8					0	0	1	0	0
PHYHIPL	84457	broad.mit.edu	37	10	60996287	60996287	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr10:60996287G>C	ENST00000373880.4	+	3	612	c.348G>C	c.(346-348)atG>atC	p.M116I	PHYHIPL_ENST00000472199.1_3'UTR|PHYHIPL_ENST00000373878.3_Missense_Mutation_p.M90I	NM_032439.3	NP_115815.2	Q96FC7	PHIPL_HUMAN	phytanoyl-CoA 2-hydroxylase interacting protein-like	116	Fibronectin type-III.									NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(3)|skin(1)|urinary_tract(1)	18						CCTTGCCTATGACTGTCCGTG	0.443000													8	23					0	0	1	0	0
MCF2L2	23101	broad.mit.edu	37	3	182948777	182948777	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr3:182948777C>T	ENST00000328913.3	-	16	2188	c.1891G>A	c.(1891-1893)Gaa>Aaa	p.E631K	MCF2L2_ENST00000447025.2_Missense_Mutation_p.E631K|MCF2L2_ENST00000473233.1_Missense_Mutation_p.E631K	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	631	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			TAAATCTCTTCAGTCTCAAGC	0.398000													13	23					0	0	1	0	0
SLC27A3	11000	broad.mit.edu	37	1	153751618	153751618	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr1:153751618G>A	ENST00000271857.2	+	8	2819	c.2059G>A	c.(2059-2061)Gag>Aag	p.E687K	SLC27A3_ENST00000484014.1_3'UTR|SLC27A3_ENST00000368661.3_Missense_Mutation_p.E606K			Q5K4L6	S27A3_HUMAN	solute carrier family 27 (fatty acid transporter), member 3	606					fatty acid metabolic process	integral to membrane|mitochondrial membrane	ligase activity|nucleotide binding			NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GGCCACAACCGAGGTGGCAGA	0.582000													66	119					0	0	1	0	0
TJP3	27134	broad.mit.edu	37	19	3746560	3746560	+	Silent	SNP	C	C	G			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr19:3746560C>G	ENST00000541714.2	+	17	2550	c.2088C>G	c.(2086-2088)gtC>gtG	p.V696V	TJP3_ENST00000539908.2_Silent_p.V660V|TJP3_ENST00000382008.3_Silent_p.V710V|TJP3_ENST00000262968.9_Silent_p.V729V|TJP3_ENST00000589378.1_Silent_p.V705V|TJP3_ENST00000587686.1_Silent_p.V715V	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	710	Guanylate kinase-like.					tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		CCATTGTGGTCTTCTTCATCC	0.672000													5	16					0	0	1	0	0
LONRF3	79836	broad.mit.edu	37	X	118109165	118109165	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chrX:118109165C>T	ENST00000304778.7	+	1	585	c.422C>T	c.(421-423)aCg>aTg	p.T141M	LONRF3_ENST00000371628.3_Missense_Mutation_p.T141M	NM_024778.4	NP_079054.3	Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger 3	141					proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						GCGGAAGAGACGGGGGCCGCC	0.701000													3	6					0	0	1	0	0
ZNF329	79673	broad.mit.edu	37	19	58640462	58640462	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr19:58640462G>A	ENST00000598312.1	-	4	642	c.409C>T	c.(409-411)Cat>Tat	p.H137Y	ZNF329_ENST00000358067.4_Missense_Mutation_p.H137Y	NM_024620.3	NP_078896.3	Q86UD4	ZN329_HUMAN	zinc finger protein 329	137					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)		TTTCTTCCATGAATAACTTCC	0.403000													41	88					0	0	1	0	0
IQSEC3	440073	broad.mit.edu	37	12	250443	250443	+	Silent	SNP	C	C	T	rs139571026		TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr12:250443C>T	ENST00000538872.1	+	5	2263	c.2145C>T	c.(2143-2145)gaC>gaT	p.D715D	RP11-598F7.4_ENST00000505893.2_RNA|RP11-598F7.4_ENST00000508953.2_RNA|IQSEC3_ENST00000382841.2_Silent_p.D412D|IQSEC3_ENST00000326261.4_Silent_p.D715D			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	715	SEC7.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		TCAACCGCGACGTGCTGGAGT	0.617000													4	32					0	0	1	0	0
MTFR1L	56181	broad.mit.edu	37	1	26156128	26156128	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr1:26156128G>A	ENST00000374301.3	+	6	888	c.580G>A	c.(580-582)Gag>Aag	p.E194K	MTFR1L_ENST00000466284.1_Silent_p.Q157Q|MTFR1L_ENST00000524618.1_Missense_Mutation_p.E97K|MTFR1L_ENST00000374300.3_Missense_Mutation_p.E194K|MTFR1L_ENST00000526894.1_Intron|MTFR1L_ENST00000469815.1_3'UTR|MTFR1L_ENST00000474295.1_Silent_p.Q157Q|MTFR1L_ENST00000374307.5_Missense_Mutation_p.E182K|MTFR1L_ENST00000374303.2_Missense_Mutation_p.E194K	NM_019557.5	NP_062457.3			mitochondrial fission regulator 1-like																		CGAGGAGACAGAGGTGGAGGT	0.488000													21	72					0	0	1	0	0
MAD2L1BP	9587	broad.mit.edu	37	6	43604345	43604345	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr6:43604345G>A	ENST00000451025.2	+	3	580	c.370G>A	c.(370-372)Gaa>Aaa	p.E124K	MAD2L1BP_ENST00000372171.4_Missense_Mutation_p.E92K|MAD2L1BP_ENST00000508232.1_3'UTR	NM_001003690.1	NP_001003690.1	Q15013	MD2BP_HUMAN	MAD2L1 binding protein	92					mitotic cell cycle checkpoint|regulation of exit from mitosis	cytoplasm|nucleus|spindle	protein binding			breast(1)|large_intestine(1)|lung(3)	5	all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000351)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			TCTGCCCTATGAACAGCTTAA	0.512000													67	10					0	0	1	0	0
TSKU	25987	broad.mit.edu	37	11	76507494	76507494	+	Silent	SNP	G	G	A			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr11:76507494G>A	ENST00000527881.1	+	2	1860	c.834G>A	c.(832-834)ctG>ctA	p.L278L	TSKU_ENST00000333090.4_Silent_p.L278L			Q8WUA8	TSK_HUMAN	tsukushi, small leucine rich proteoglycan	278						extracellular region				NS(1)|large_intestine(4)|lung(6)|urinary_tract(1)	12	Ovarian(111;0.112)					TTTCAGGCCTGAGCTCCCTGC	0.672000													6	33					0	0	1	0	0
ESR1	2099	broad.mit.edu	37	6	152382165	152382165	+	Silent	SNP	C	C	T			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr6:152382165C>T	ENST00000440973.1	+	8	1645	c.1275C>T	c.(1273-1275)ttC>ttT	p.F425F	ESR1_ENST00000427531.2_Silent_p.F252F|ESR1_ENST00000338799.5_Silent_p.F425F|ESR1_ENST00000443427.1_Silent_p.F425F|ESR1_ENST00000456483.2_Silent_p.F313F|ESR1_ENST00000406599.1_Silent_p.F164F|ESR1_ENST00000206249.3_Silent_p.F425F	NM_001122742.1	NP_001116214.1	P03372	ESR1_HUMAN	estrogen receptor 1	425	Interaction with AKAP13.|Steroid-binding.				positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	chromatin remodeling complex|cytoplasm|nucleoplasm	beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)	TGGAGATCTTCGACATGCTGC	0.378000													22	5					0	0	1	0	0
KRT20	54474	broad.mit.edu	37	17	39038894	39038894	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr17:39038894G>C	ENST00000167588.3	-	2	444	c.403C>G	c.(403-405)Caa>Gaa	p.Q135E		NM_019010.2	NP_061883.1	P35900	K1C20_HUMAN	keratin 20	135	Coil 1B.|Rod.				apoptosis|intermediate filament organization	Golgi apparatus|intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	14		Breast(137;0.000301)|Ovarian(249;0.15)				TTTTGCAGTTGAGCATCCTTA	0.328000													22	44					0	0	1	0	0
PPARD	5467	broad.mit.edu	37	6	35391757	35391757	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr6:35391757G>C	ENST00000311565.4	+	7	808	c.459G>C	c.(457-459)aaG>aaC	p.K153N	PPARD_ENST00000448077.2_Missense_Mutation_p.K114N|PPARD_ENST00000418635.2_Missense_Mutation_p.K55N|PPARD_ENST00000337400.2_Missense_Mutation_p.K153N|PPARD_ENST00000444397.1_Missense_Mutation_p.K153N|PPARD_ENST00000360694.3_Missense_Mutation_p.K153N|PPARD_ENST00000540939.1_Missense_Mutation_p.K50N	NM_001171818.1	NP_001165289.1	Q03181	PPARD_HUMAN	peroxisome proliferator-activated receptor delta	153					apoptosis|axon ensheathment|cholesterol metabolic process|decidualization|embryo implantation|fatty acid beta-oxidation|fatty acid transport|generation of precursor metabolites and energy|glucose metabolic process|glucose transport|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fat cell differentiation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|linoleic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(4)|liver(2)|lung(9)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23					Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)	AGGCTGAGAAGAGGAAGCTGG	0.612000													34	7					0	0	1	0	0
ZNF845	91664	broad.mit.edu	37	19	53856730	53856730	+	Silent	SNP	G	G	A			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr19:53856730G>A	ENST00000458035.1	+	4	2919	c.2802G>A	c.(2800-2802)aaG>aaA	p.K934K	ZNF845_ENST00000595091.1_Silent_p.K934K	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	934					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K934K(3)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TAATTCATAAGACAATTCATA	0.368000													3	45					0	0	1	0	0
CDH2	1000	broad.mit.edu	37	18	25589753	25589753	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr18:25589753G>T	ENST00000269141.3	-	5	1053	c.630C>A	c.(628-630)ttC>ttA	p.F210L	CDH2_ENST00000399380.3_Missense_Mutation_p.F179L	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	210	Cadherin 1.				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			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						GGTTGATAATGAAGATACCAG	0.493000													14	20					2.32078e-09	2.45153e-09	1	1	0
IL22RA1	58985	broad.mit.edu	37	1	24447591	24447591	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr1:24447591C>T	ENST00000270800.1	-	7	1467	c.1429G>A	c.(1429-1431)Gac>Aac	p.D477N		NM_021258.3	NP_067081.2	Q8N6P7	I22R1_HUMAN	interleukin 22 receptor, alpha 1	477						integral to membrane	interferon receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)		ACATTTGGGTCAGATGTTCTG	0.562000													20	37					0	0	1	0	0
OR2T27	403239	broad.mit.edu	37	1	248813757	248813757	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr1:248813757C>A	ENST00000344889.3	-	1	428	c.429G>T	c.(427-429)ttG>ttT	p.L143F		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	143					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCGCCACAATCAACCAGCAGA	0.557000													16	25					1.10923e-09	1.17586e-09	1	1	0
KDELR3	11015	broad.mit.edu	37	22	38877252	38877252	+	Silent	SNP	G	G	A			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr22:38877252G>A	ENST00000216014.4	+	4	559	c.387G>A	c.(385-387)gtG>gtA	p.V129V	KDELR3_ENST00000409006.3_Silent_p.V129V|KDELR3_ENST00000471268.1_3'UTR	NM_006855.2	NP_006846.1	O43731	ERD23_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 3	129					protein retention in ER lumen|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane	ER retention sequence binding|receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)	13	Melanoma(58;0.0286)					TGGAATCAGTGGCTATCCTGC	0.488000													50	66					0	0	1	0	0
ATP1B2	482	broad.mit.edu	37	17	7556818	7556818	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr17:7556818C>T	ENST00000250111.4	+	2	646	c.239C>T	c.(238-240)cCg>cTg	p.P80L		NM_001678.3	NP_001669.3	P14415	AT1B2_HUMAN	ATPase, Na+/K+ transporting, beta 2 polypeptide	80					ATP biosynthetic process|blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|sodium:potassium-exchanging ATPase activity	p.0?(2)|p.?(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|pancreas(1)	10		all_cancers(10;0.000178)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;2.55e-06)|READ - Rectum adenocarcinoma(115;0.168)		CTGGCCACACCGGGTGAGTGT	0.552000													13	13					0	0	1	0	0
NAB1	4664	broad.mit.edu	37	2	191535076	191535076	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr2:191535076C>T	ENST00000337386.5	+	5	1305	c.844C>T	c.(844-846)Caa>Taa	p.Q282*	NAB1_ENST00000545490.1_Nonsense_Mutation_p.Q52*|NAB1_ENST00000357215.5_Nonsense_Mutation_p.Q282*|NAB1_ENST00000409641.1_Nonsense_Mutation_p.Q282*|NAB1_ENST00000484774.1_Intron|NAB1_ENST00000409581.1_Nonsense_Mutation_p.Q282*	NM_005966.3	NP_005957.2	Q13506	NAB1_HUMAN	NGFI-A binding protein 1 (EGR1 binding protein 1)	282	NCD2.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0405)|all cancers(119;0.109)			AGCGGCTGCTCAACTCTGTGT	0.368000													54	19					0	0	1	0	0
BMX	660	broad.mit.edu	37	X	15560204	15560204	+	Silent	SNP	G	G	A			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chrX:15560204G>A	ENST00000357607.2	+	15	1682	c.1494G>A	c.(1492-1494)ctG>ctA	p.L498L	BMX_ENST00000342014.6_Silent_p.L498L|BMX_ENST00000348343.6_Silent_p.L498L			P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	498	Protein kinase.				cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					GCTGCTTGCTGAATTACCTGA	0.443000													110	154					0	0	1	0	0
GRK1	6011	broad.mit.edu	37	13	114325926	114325926	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr13:114325926G>A	ENST00000335678.6	+	3	1172	c.940G>A	c.(940-942)Gtc>Atc	p.V314I		NM_002929.2	NP_002920.1	Q15835	RK_HUMAN	G protein-coupled receptor kinase 1	314	Protein kinase.				regulation of G-protein coupled receptor protein signaling pathway|rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|rhodopsin kinase activity|signal transducer activity			ovary(2)	2	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	all cancers(43;0.234)			GAGGCGGATCGTCTACCGCGA	0.542000													9	16					0	0	1	0	0
PDE4B	5142	broad.mit.edu	37	1	66723354	66723354	+	Frame_Shift_Del	DEL	T	T	-			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr1:66723354delT	ENST00000423207.2	+	3	941	c.456delT	c.(454-456)actfs	p.T152fs	PDE4B_ENST00000371048.3_3'UTR|PDE4B_ENST00000371049.3_Frame_Shift_Del_p.T167fs|PDE4B_ENST00000329654.4_Frame_Shift_Del_p.T167fs	NM_001037340.1	NP_001032417.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	167					signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)	TGATTGTAACTCCTTTTGCCC	0.383													73	113	---	---	---	---					
ZNF354B	117608	broad.mit.edu	37	5	178309997	178309998	+	Frame_Shift_Ins	INS	-	-	A			TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr5:178309997_178309998insA	ENST00000322434.3	+	5	770_771	c.544_545insA	c.(544-546)gaafs	p.E182fs		NM_058230.2	NP_478137.1	Q96LW1	Z354B_HUMAN	zinc finger protein 354B	182					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATTTGCTAAAGAAAAAACTCCA	0.297													7	67	---	---	---	---					
ROCK1P1	727758	broad.mit.edu	37	18	112320	112320	+	RNA	DEL	G	G	-	rs150869170	by1000genomes	TCGA-XF-AAMQ-01A-11D-A42E-08	TCGA-XF-AAMQ-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	037d53e7-d25a-4828-bca5-10b2beeb5c9c	a69f1694-b2da-47ca-937c-81bc9b8caa9a	g.chr18:112320delG	ENST00000608049.1	+	0	389					NR_033770.1																						CGGTCAGCCCGGTGGAGGGGG	0.692													2	4	---	---	---	---