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
SVEP1	79987	broad.mit.edu	37	9	113194251	113194251	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr9:113194251C>A	ENST00000401783.2	-	32	5633	c.5297G>T	c.(5296-5298)gGa>gTa	p.G1766V	SVEP1_ENST00000374469.1_Missense_Mutation_p.G1743V	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1766	EGF-like 7; calcium-binding (Potential).				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	p.G1769V(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TATGTAGGATCCATCTACGTT	0.378000													23	95					2.98393e-07	4.21866e-07	0.002780	1	0
NUP214	8021	broad.mit.edu	37	9	134073026	134073026	+	Missense_Mutation	SNP	A	A	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr9:134073026A>T	ENST00000359428.5	+	29	4289	c.4145A>T	c.(4144-4146)aAg>aTg	p.K1382M	NUP214_ENST00000483497.2_Missense_Mutation_p.K208M|NUP214_ENST00000451030.1_Missense_Mutation_p.K1383M|NUP214_ENST00000411637.2_Missense_Mutation_p.K1372M|NUP214_ENST00000465486.2_3'UTR			P35658	NU214_HUMAN	nucleoporin 214kDa	1382	11 X 5 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding	p.K1382M(1)		NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		GTGTTAGGGAAGCACACGGAG	0.562000			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""								15	72					0	0	0.004990	0	0
FLG2	388698	broad.mit.edu	37	1	152325867	152325867	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr1:152325867G>T	ENST00000388718.5	-	3	4467	c.4395C>A	c.(4393-4395)caC>caA	p.H1465Q	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1465							calcium ion binding|structural molecule activity	p.H1465Q(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGTAGTTCCGTGTCTCCCAT	0.502000													211	505					2.39235e-93	4.37328e-93	0.003610	1	0
MYO3A	53904	broad.mit.edu	37	10	26463396	26463396	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr10:26463396G>T	ENST00000265944.5	+	30	4369	c.4203G>T	c.(4201-4203)gaG>gaT	p.E1401D	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1401					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	p.E1401D(1)		NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						CAAAACATGAGGAAATCAATA	0.358000													21	92					1.55795e-14	2.66944e-14	0.001882	1	0
MBD3	53615	broad.mit.edu	37	19	1578464	1578464	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr19:1578464C>A	ENST00000590550.2	-	5	956	c.583G>T	c.(583-585)Gtg>Ttg	p.V195L	MBD3_ENST00000592012.1_Missense_Mutation_p.V219L|MBD3_ENST00000434436.3_Missense_Mutation_p.V251L|MBD3_ENST00000156825.1_Missense_Mutation_p.V251L			O95983	MBD3_HUMAN	methyl-CpG binding domain protein 3	251					transcription, DNA-dependent	NuRD complex	DNA binding|protein binding	p.V251L(1)		central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCTCCTCCACGTGCGCCAGC	0.677000													14	60					3.27435e-08	4.79459e-08	0.002450	1	0
FBN1	2200	broad.mit.edu	37	15	48755419	48755419	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr15:48755419C>A	ENST00000316623.5	-	42	5539	c.5084G>T	c.(5083-5085)tGc>tTc	p.C1695F		NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	1695	TB 7.		Missing (in ADWMS).		heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	p.C1695F(1)		NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GTTTCTGTAGCACAAACTTCT	0.423000													19	88					1.36565e-18	2.42687e-18	0.002780	1	0
CSMD3	114788	broad.mit.edu	37	8	113348905	113348905	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr8:113348905G>T	ENST00000297405.5	-	44	7239	c.6995C>A	c.(6994-6996)cCa>cAa	p.P2332Q	CSMD3_ENST00000352409.3_Missense_Mutation_p.P2262Q|CSMD3_ENST00000343508.3_Missense_Mutation_p.P2292Q|CSMD3_ENST00000455883.2_Missense_Mutation_p.P2228Q	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2332	CUB 13.					integral to membrane|plasma membrane		p.P2292Q(1)|p.P2332Q(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATCATATATTGGTTCTGTTTG	0.313000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			10	114					5.50884e-06	7.38802e-06	0.001368	1	0
ZFP14	57677	broad.mit.edu	37	19	36831713	36831713	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr19:36831713G>A	ENST00000270001.7	-	5	1130	c.1015C>T	c.(1015-1017)Ccc>Tcc	p.P339S		NM_020917.2	NP_065968.1	Q9HCL3	ZFP14_HUMAN	ZFP14 zinc finger protein	339					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P339S(1)		NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26	Esophageal squamous(110;0.162)					CATTCATAGGGTTTCTCACCA	0.393000													23	76					0	0	0.002780	0	0
DPY19L3	147991	broad.mit.edu	37	19	32902281	32902281	+	Silent	SNP	A	A	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr19:32902281A>G	ENST00000587077.1	+	3	397	c.240A>G	c.(238-240)gtA>gtG	p.V80V	DPY19L3_ENST00000586987.1_Intron|DPY19L3_ENST00000342179.5_Intron|DPY19L3_ENST00000392250.2_Intron			Q6ZPD9	D19L3_HUMAN	dpy-19-like 3 (C. elegans)	0						integral to membrane		p.?(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1)	32	Esophageal squamous(110;0.162)					ATATTAAGGTATGGAGTTTCT	0.393000													20	152					0	0	0.007413	0	0
CORO2A	7464	broad.mit.edu	37	9	100893276	100893276	+	Silent	SNP	G	G	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr9:100893276G>A	ENST00000343933.5	-	7	1088	c.831C>T	c.(829-831)ttC>ttT	p.F277F	CORO2A_ENST00000375077.4_Silent_p.F277F	NM_003389.3	NP_003380.3	Q92828	COR2A_HUMAN	coronin, actin binding protein, 2A	277					actin cytoskeleton organization|intracellular signal transduction	actin cytoskeleton|transcriptional repressor complex	actin filament binding	p.F277F(1)		endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				CCGCGTCATAGAAGGGAAACA	0.647000													3	23					0	0	0.000248	0	0
EMC4	51234	broad.mit.edu	37	15	34519984	34519984	+	Missense_Mutation	SNP	C	C	G	rs11544437		TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr15:34519984C>G	ENST00000267750.4	+	3	408	c.292C>G	c.(292-294)Cct>Gct	p.P98A	EMC4_ENST00000559078.1_Missense_Mutation_p.P98A|EMC4_ENST00000559421.1_Intron|EMC4_ENST00000557879.1_Intron|EMC4_ENST00000249209.4_Missense_Mutation_p.P98A	NM_016454.2	NP_057538.1			ER membrane protein complex subunit 4									p.P98A(1)									CTCCATCTTCCCTACTATGAT	0.453000													5	101					0	0	0.000602	0	0
SF3B3	23450	broad.mit.edu	37	16	70602365	70602365	+	Silent	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr16:70602365G>T	ENST00000302516.5	+	22	3343	c.3132G>T	c.(3130-3132)gtG>gtT	p.V1044V		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	1044					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding	p.V1044V(1)		breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				ATGACACTGTGGCTGGGGCAG	0.483000													5	34					0.00116845	0.00138002	0.001168	1	0
TMED9	54732	broad.mit.edu	37	5	177020659	177020659	+	Silent	SNP	G	G	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr5:177020659G>A	ENST00000332598.6	+	3	351	c.294G>A	c.(292-294)ctG>ctA	p.L98L	TMED9_ENST00000507578.1_3'UTR	NM_017510.4	NP_059980.2	Q9BVK6	TMED9_HUMAN	transmembrane emp24 protein transport domain containing 9	98	GOLD.				transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|integral to membrane		p.L98L(1)		endometrium(1)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(2)	10	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGGTCATCCTGGCCCGGCAGT	0.502000													13	147					0	0	0.002450	0	0
ITIH3	3699	broad.mit.edu	37	3	52836352	52836352	+	Silent	SNP	C	C	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr3:52836352C>T	ENST00000449956.2	+	12	1392	c.1386C>T	c.(1384-1386)ggC>ggT	p.G462G	ITIH3_ENST00000416872.2_Silent_p.G462G	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN	inter-alpha-trypsin inhibitor heavy chain 3	462	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.G462G(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		AACTTCAGGGCTTCTATGAGG	0.607000													3	32					0	0	0.004672	0	0
CEP350	9857	broad.mit.edu	37	1	179989875	179989875	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr1:179989875G>T	ENST00000367607.3	+	12	3384	c.2966G>T	c.(2965-2967)aGt>aTt	p.S989I		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	989						centrosome|nucleus|spindle		p.S989I(2)		central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						CCTCTTCTTAGTGAGGGGAGT	0.433000													13	202					1.52009e-12	2.52177e-12	0.003163	1	0
UBOX5	22888	broad.mit.edu	37	20	3102805	3102805	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr20:3102805C>A	ENST00000217173.2	-	3	951	c.480G>T	c.(478-480)tgG>tgT	p.W160C	UBOX5_ENST00000348031.2_Missense_Mutation_p.W160C|UBOX5-AS1_ENST00000446537.1_RNA	NM_001267584.1|NM_014948.3	NP_001254513.1|NP_055763.1	O94941	RNF37_HUMAN	U-box domain containing 5	160						nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding	p.W160C(1)		endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	20						CCCCTTTATTCCAGAGCTCCT	0.582000													13	62					1.61879e-10	2.54572e-10	0.001368	1	0
ASNSD1	54529	broad.mit.edu	37	2	190532188	190532188	+	Silent	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr2:190532188C>A	ENST00000260952.4	+	4	1743	c.1330C>A	c.(1330-1332)Cga>Aga	p.R444R	ASNSD1_ENST00000607062.1_Intron	NM_019048.2	NP_061921.1	Q9NWL6	ASND1_HUMAN	asparagine synthetase domain containing 1	444	Asparagine synthetase.				asparagine biosynthetic process|glutamine metabolic process		asparagine synthase (glutamine-hydrolyzing) activity	p.R444R(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)			AAGAAGAACTCGAATATGTCA	0.413000													5	99					3.59834e-05	4.64145e-05	0.001168	1	0
BCL2L11	10018	broad.mit.edu	37	2	111881467	111881467	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr2:111881467G>C	ENST00000393256.3	+	2	418	c.145G>C	c.(145-147)Gga>Cga	p.G49R	BCL2L11_ENST00000405953.1_Intron|BCL2L11_ENST00000337565.5_Intron|BCL2L11_ENST00000308659.8_Intron|BCL2L11_ENST00000393253.2_Intron|BCL2L11_ENST00000357757.2_Missense_Mutation_p.G49R	NM_001204106.1|NM_006538.4|NM_138621.4|NM_138627.3	NP_001191035.1|NP_006529.1|NP_619527.1|NP_619533.1	O43521	B2L11_HUMAN	BCL2-like 11 (apoptosis facilitator)	49					activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria	cytosol|endomembrane system|mitochondrial outer membrane|plasma membrane	protein binding	p.G49R(1)		endometrium(4)|large_intestine(3)|lung(2)|prostate(2)	11						AGGCAATCACGGAGGTGAAGG	0.632000													6	56					0	0	0.001168	0	0
FYCO1	79443	broad.mit.edu	37	3	46009082	46009082	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr3:46009082G>T	ENST00000296137.2	-	8	1949	c.1744C>A	c.(1744-1746)Caa>Aaa	p.Q582K	FYCO1_ENST00000535325.1_Missense_Mutation_p.Q582K	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	582					transport	integral to membrane	metal ion binding|protein binding	p.Q582K(1)		NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		CAGGCCTCTTGCAGACTGGAG	0.637000													10	96					7.48243e-07	1.04245e-06	0.006214	1	0
G6PC3	92579	broad.mit.edu	37	17	42153250	42153250	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr17:42153250C>A	ENST00000269097.4	+	6	1111	c.880C>A	c.(880-882)Ctg>Atg	p.L294M		NM_138387.3	NP_612396.1	Q9BUM1	G6PC3_HUMAN	glucose 6 phosphatase, catalytic, 3	294					gluconeogenesis|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphatase activity	p.L294M(1)		endometrium(2)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	11		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.113)		CATGGGGCTGCTGGGCCCCCT	0.612000													10	65					6.40141e-05	8.12923e-05	0.000978	1	0
PADI4	23569	broad.mit.edu	37	1	17664568	17664568	+	Silent	SNP	C	C	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr1:17664568C>T	ENST00000375448.4	+	5	470	c.444C>T	c.(442-444)gcC>gcT	p.A148A	AC004824.2_ENST00000602074.1_Intron	NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	148					chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity	p.A148A(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	GACAGGGTGCCATCCTGCTGG	0.532000													5	69					0	0	0.000602	0	0
SLITRK5	26050	broad.mit.edu	37	13	88328487	88328487	+	Nonsense_Mutation	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr13:88328487G>T	ENST00000325089.6	+	2	1063	c.844G>T	c.(844-846)Gaa>Taa	p.E282*	SLITRK5_ENST00000400028.3_Nonsense_Mutation_p.E41*	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	282	LRRCT 1.					integral to membrane		p.E282*(1)|p.E282K(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					ATCCAAGCAGGAACTTTGCCC	0.542000													15	108					1.99824e-07	2.84612e-07	0.004990	1	0
INPP5B	3633	broad.mit.edu	37	1	38341286	38341286	+	Nonsense_Mutation	SNP	T	T	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr1:38341286T>A	ENST00000373023.2	-	17	2113	c.2020A>T	c.(2020-2022)Aag>Tag	p.K674*	INPP5B_ENST00000373027.1_Nonsense_Mutation_p.K430*|INPP5B_ENST00000458109.2_3'UTR|INPP5B_ENST00000373024.3_Nonsense_Mutation_p.K594*|INPP5B_ENST00000373026.1_Nonsense_Mutation_p.K674*	NM_005540.2	NP_005531.2	P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	674					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to membrane|microtubule cytoskeleton	GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding	p.K674*(1)		breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				ACCTCTCGCTTGGACAGGGAC	0.517000													4	52					0	0	0.000248	0	0
ARAP2	116984	broad.mit.edu	37	4	36179481	36179481	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr4:36179481C>T	ENST00000303965.4	-	9	2314	c.1825G>A	c.(1825-1827)Gga>Aga	p.G609R		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	609	PH 2.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding	p.G609I(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						ACACTGTTTCCACTTAACACA	0.368000													9	82					0	0	0.004482	0	0
GEMIN4	50628	broad.mit.edu	37	17	650508	650508	+	Nonsense_Mutation	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr17:650508C>A	ENST00000576778.1	-	1	2083	c.742G>T	c.(742-744)Gag>Tag	p.E248*	GEMIN4_ENST00000319004.5_Nonsense_Mutation_p.E259*|GEMIN4_ENST00000437269.1_Missense_Mutation_p.R171S			P57678	GEMI4_HUMAN	gem (nuclear organelle) associated protein 4	259					rRNA processing|spliceosomal snRNP assembly	Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex	protein binding	p.E259*(2)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		GCAGACACCTCCTGGGGGTCG	0.607000													17	155					1.99824e-07	2.84612e-07	0.004990	1	0
CEL	1056	broad.mit.edu	37	9	135942538	135942538	+	Missense_Mutation	SNP	A	A	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr9:135942538A>T	ENST00000372080.4	+	7	866	c.850A>T	c.(850-852)Act>Tct	p.T284S	CEL_ENST00000351304.7_Missense_Mutation_p.T281S	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	281				RALTL -> AAVTV (in Ref. 5; AAB35488).	cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity	p.T284S(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		TCTGAAGGTTACTGATCCCCG	0.647000													8	33					0	0	0.004482	0	0
PRAMEF4	400735	broad.mit.edu	37	1	12939843	12939843	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr1:12939843G>T	ENST00000235349.5	-	4	1029	c.959C>A	c.(958-960)cCg>cAg	p.P320Q		NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN	PRAME family member 4	320								p.P320Q(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ACTGATACTCGGGCACTGGGA	0.468000													30	383					1.69901e-12	2.81047e-12	0.005524	1	0
ZFYVE26	23503	broad.mit.edu	37	14	68256100	68256100	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr14:68256100G>C	ENST00000347230.4	-	16	3109	c.2971C>G	c.(2971-2973)Ctt>Gtt	p.L991V	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.L991V	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	991					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	p.L991V(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		GTCTCCAAAAGCTGCTTGCAG	0.527000													7	90					0	0	0.001984	0	0
PCDHB8	56128	broad.mit.edu	37	5	140559195	140559195	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr5:140559195C>A	ENST00000239444.2	+	1	1825	c.1580C>A	c.(1579-1581)gCg>gAg	p.A527E		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		527	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.A527E(1)		NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCCTGCAGGCGTTCGAGTTC	0.687000													13	233					3.45872e-05	4.49164e-05	0.004007	1	0
NUPL2	11097	broad.mit.edu	37	7	23221741	23221741	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr7:23221741C>T	ENST00000258742.5	+	1	296	c.37C>T	c.(37-39)Cgc>Tgc	p.R13C	NUPL2_ENST00000410002.3_Missense_Mutation_p.R13C|AC005082.1_ENST00000366347.4_Intron|NUPL2_ENST00000487595.1_3'UTR	NM_007342.2	NP_031368.1	O15504	NUPL2_HUMAN	nucleoporin like 2	13					carbohydrate metabolic process|glucose transport|mRNA transport|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nuclear pore	nuclear export signal receptor activity|nucleic acid binding|zinc ion binding	p.R13C(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AGGCCGGTGCCGCTTTGGAGA	0.602000													7	33					0	0	0.001984	0	0
COL16A1	1307	broad.mit.edu	37	1	32155342	32155342	+	Splice_Site	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr1:32155342C>A	ENST00000373672.3	-	23	2136	c.1620_splice	c.e23+1	p.R540_splice	COL16A1_ENST00000373668.3_Splice_Site_p.R540_splice|COL16A1_ENST00000271069.6_Splice_Site_p.R540_splice	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	540	Triple-helical region 8 (COL8) with 1 imperfection.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity	p.R540S(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		GGGCACTCACCCTGGCTGGTA	0.567000													8	47					3.86212e-05	4.94834e-05	0.008291	1	0
MTTP	4547	broad.mit.edu	37	4	100532599	100532599	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr4:100532599C>T	ENST00000457717.1	+	15	2234	c.1978C>T	c.(1978-1980)Cac>Tac	p.H660Y	MTTP_ENST00000511045.1_Missense_Mutation_p.H687Y|MTTP_ENST00000265517.5_Missense_Mutation_p.H660Y|RP11-766F14.1_ENST00000508578.1_RNA	NM_000253.2	NP_000244.2	P55157	MTP_HUMAN	microsomal triglyceride transfer protein	660					lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity	p.H660Y(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	GGCTGGTCTTCACGGTAGCCA	0.413000													9	115					0	0	0.008291	0	0
DEF6	50619	broad.mit.edu	37	6	35280244	35280244	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr6:35280244G>T	ENST00000316637.5	+	4	594	c.589G>T	c.(589-591)Gtg>Ttg	p.V197L	DEF6_ENST00000542066.1_Intron	NM_022047.3	NP_071330.3	Q9H4E7	DEFI6_HUMAN	differentially expressed in FDCP 6 homolog (mouse)	197						cytoplasm|nucleus|plasma membrane		p.V197L(1)|p.V197M(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	15						CCTGCGGGGCGTGGGCCGGGA	0.657000													10	40					1.76689e-08	2.62066e-08	0.006214	1	0
FBXL13	222235	broad.mit.edu	37	7	102608486	102608486	+	Missense_Mutation	SNP	T	T	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr7:102608486T>A	ENST00000393772.2	-	7	1000	c.574A>T	c.(574-576)Aac>Tac	p.N192Y	FBXL13_ENST00000471074.1_5'UTR|FBXL13_ENST00000456695.1_Missense_Mutation_p.N192Y|FBXL13_ENST00000455112.2_Missense_Mutation_p.N192Y|FBXL13_ENST00000436908.1_Missense_Mutation_p.N192Y|FBXL13_ENST00000379305.3_Missense_Mutation_p.N192Y|FBXL13_ENST00000379306.3_Missense_Mutation_p.N192Y|FBXL13_ENST00000379308.3_Missense_Mutation_p.N192Y|FBXL13_ENST00000313221.4_Missense_Mutation_p.N192Y			Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	192	F-box.							p.N192Y(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						CACAGTGAGTTTAGTTGTGTC	0.373000													8	29					0	0	0.004482	0	0
MICAL3	57553	broad.mit.edu	37	22	18347536	18347536	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr22:18347536G>C	ENST00000429452.1	-	23	3458	c.3106C>G	c.(3106-3108)Ctg>Gtg	p.L1036V	MICAL3_ENST00000444520.1_Intron|MICAL3_ENST00000207726.7_Intron|MICAL3_ENST00000414725.2_Intron|MICAL3_ENST00000441493.2_Intron|MICAL3_ENST00000400561.2_Intron|MICAL3_ENST00000585038.1_Missense_Mutation_p.L1036V|MICAL3_ENST00000383094.3_Intron	NM_001136004.1	NP_001129476.1	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	0	Glu-rich.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	p.L1036V(1)		large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		AAGGAGTCCAGAGGGTTTTGG	0.572000													3	38					0	0	0.004672	0	0
LILRB1	10859	broad.mit.edu	37	19	55143933	55143933	+	Nonsense_Mutation	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr19:55143933C>A	ENST00000396331.1	+	7	1037	c.680C>A	c.(679-681)tCa>tAa	p.S227*	LILRB1_ENST00000324602.7_Nonsense_Mutation_p.S227*|LILRB1_ENST00000396321.2_Nonsense_Mutation_p.S227*|LILRB1_ENST00000418536.2_Nonsense_Mutation_p.S227*|LILRB1_ENST00000448689.1_Nonsense_Mutation_p.S227*|LILRB1_ENST00000396315.1_Nonsense_Mutation_p.S227*|LILRB1_ENST00000396332.4_Nonsense_Mutation_p.S227*|LILRB1_ENST00000396317.1_Nonsense_Mutation_p.S227*|LILRB1_ENST00000396327.3_Nonsense_Mutation_p.S227*|LILRB1_ENST00000434867.2_Nonsense_Mutation_p.S227*|LILRB1_ENST00000427581.2_Nonsense_Mutation_p.S263*	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	227	Ig-like C2-type 3.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	p.S227*(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		AAGAAGCCATCACTCTCAGTG	0.552000										HNSCC(37;0.09)			13	85					2.61681e-11	4.23113e-11	0.002450	1	0
RELN	5649	broad.mit.edu	37	7	103205757	103205757	+	Silent	SNP	C	C	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr7:103205757C>T	ENST00000424685.2	-	34	5337	c.5178G>A	c.(5176-5178)aaG>aaA	p.K1726K	RELN_ENST00000428762.1_Silent_p.K1726K|RELN_ENST00000343529.5_Silent_p.K1726K			P78509	RELN_HUMAN	reelin	1726					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	p.K1726K(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CAGTGATCCGCTTCCAATTCT	0.438000													9	91					0	0	0.006214	0	0
SMG1	23049	broad.mit.edu	37	16	18826800	18826800	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr16:18826800G>C	ENST00000446231.2	-	59	10888	c.10476C>G	c.(10474-10476)atC>atG	p.I3492M	SMG1_ENST00000389467.3_Missense_Mutation_p.I3493M			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	3492					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.I3492M(1)|p.I3488M(1)		NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						AGGTGGGAGTGATTTCCTGGA	0.373000													4	113					0	0	0.000248	0	0
FAT1	2195	broad.mit.edu	37	4	187522452	187522452	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr4:187522452C>T	ENST00000441802.2	-	21	11820	c.11611G>A	c.(11611-11613)Gct>Act	p.A3871T		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3871	Laminin G-like.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	p.A3874T(1)|p.A3871T(1)		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						GTTCCTCGAGCATACATGACA	0.398000										HNSCC(5;0.00058)			10	45					0	0	0.008291	0	0
GLB1L	79411	broad.mit.edu	37	2	220107620	220107620	+	Missense_Mutation	SNP	T	T	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr2:220107620T>A	ENST00000295759.7	-	4	573	c.260A>T	c.(259-261)cAc>cTc	p.H87L	GLB1L_ENST00000392089.2_Missense_Mutation_p.H87L|GLB1L_ENST00000356283.3_Missense_Mutation_p.H87L|GLB1L_ENST00000409640.1_Missense_Mutation_p.H87L			Q6UWU2	GLB1L_HUMAN	galactosidase, beta 1-like	87					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	p.H87L(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTGTGGCTCGTGGTAGTTCCA	0.527000													5	55					0	0	0.000602	0	0
FCRL1	115350	broad.mit.edu	37	1	157771368	157771368	+	Splice_Site	SNP	C	C	A	rs148618017	by1000genomes	TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr1:157771368C>A	ENST00000368176.3	-	6	954		c.e6-1		FCRL1_ENST00000358292.3_Intron|FCRL1_ENST00000489998.1_Intron|FCRL1_ENST00000491942.1_Splice_Site	NM_001159398.1|NM_052938.4	NP_001152870.1|NP_443170.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1							integral to membrane|plasma membrane	receptor activity	p.?(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CCAGTAGGCACTAGAGGGAGA	0.552000													9	69					7.03913e-09	1.06328e-08	0.001368	1	0
MYOM2	9172	broad.mit.edu	37	8	2088653	2088653	+	Nonsense_Mutation	SNP	A	A	T	rs76960308	by1000genomes	TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr8:2088653A>T	ENST00000262113.4	+	33	3949	c.3808A>T	c.(3808-3810)Aag>Tag	p.K1270*	MYOM2_ENST00000523438.1_Nonsense_Mutation_p.K695*	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	1270					muscle contraction	myosin filament	structural constituent of muscle	p.K1270*(1)		autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		AAGAGATGCTAAGATCTCATC	0.473000													7	54					0	0	0.003080	0	0
AMY2B	280	broad.mit.edu	37	1	104116939	104116939	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr1:104116939G>T	ENST00000361355.4	+	7	1418	c.802G>T	c.(802-804)Gtg>Ttg	p.V268L	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	268					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding	p.V268L(1)		breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		AAATGGCCGGGTGACAGAATT	0.383000													22	557					8.24728e-16	1.43019e-15	0.004656	1	0
ZIC1	7545	broad.mit.edu	37	3	147131311	147131311	+	Silent	SNP	T	T	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr3:147131311T>A	ENST00000282928.4	+	3	2046	c.1317T>A	c.(1315-1317)tcT>tcA	p.S439S		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	439	Ser-rich.				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S439S(1)		central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						GTGCGCTCTCTTCCAATTTTA	0.478000													11	58					0	0	0.000978	0	0
NCSTN	23385	broad.mit.edu	37	1	160313247	160313247	+	Silent	SNP	C	C	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr1:160313247C>T	ENST00000294785.5	+	1	186	c.61C>T	c.(61-63)Ctg>Ttg	p.L21L	NCSTN_ENST00000368063.1_5'UTR|NCSTN_ENST00000535857.1_Silent_p.L21L	NM_015331.2	NP_056146.1	Q92542	NICA_HUMAN	nicastrin	21					amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome	protein binding	p.L21L(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CCTTCGCCTTCTGTCTTTCTG	0.667000													6	47					0	0	0.001168	0	0
HERC2	8924	broad.mit.edu	37	15	28491134	28491134	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr15:28491134G>C	ENST00000261609.7	-	23	3578	c.3470C>G	c.(3469-3471)gCt>gGt	p.A1157G		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	1157					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.A1157G(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CAGAGGTACAGCTCCAGCCTC	0.473000													10	71					0	0	0.006214	0	0
PEG3	5178	broad.mit.edu	37	19	57327815	57327815	+	Silent	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr19:57327815G>T	ENST00000326441.9	-	10	2358	c.1995C>A	c.(1993-1995)acC>acA	p.T665T	PEG3_ENST00000598410.1_Silent_p.T541T|PEG3_ENST00000593695.1_Silent_p.T539T|PEG3_ENST00000423103.2_Silent_p.T665T|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000601070.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	665					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.T665T(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CAGGAATAAAGGTTTCCTCAC	0.443000													27	177					6.38683e-12	1.04744e-11	0.008361	1	0
RAPH1	65059	broad.mit.edu	37	2	204305195	204305195	+	Silent	SNP	G	G	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr2:204305195G>A	ENST00000319170.5	-	14	3017	c.2718C>T	c.(2716-2718)ccC>ccT	p.P906P	RAPH1_ENST00000374493.3_Silent_p.P958P|RAPH1_ENST00000457812.1_Intron	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	906					cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane		p.P906P(1)		breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GGATGGAGCTGGGCTGCCACT	0.602000													13	106					0	0	0.001368	0	0
ATP7B	540	broad.mit.edu	37	13	52539088	52539088	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr13:52539088C>A	ENST00000242839.4	-	5	1945	c.1789G>T	c.(1789-1791)Gtt>Ttt	p.V597F	ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000400370.3_Intron|ATP7B_ENST00000542656.1_Intron|ATP7B_ENST00000344297.5_Missense_Mutation_p.V597F|ATP7B_ENST00000400366.3_Missense_Mutation_p.V486F|ATP7B_ENST00000448424.2_Missense_Mutation_p.V597F|ATP7B_ENST00000418097.2_Missense_Mutation_p.V597F	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	597	HMA 6.				ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding	p.V597F(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		GCAAGGGCAACGGAGGCATAA	0.453000									Wilson disease				15	73					4.14922e-12	6.82421e-12	0.004007	1	0
CYP7A1	1581	broad.mit.edu	37	8	59409192	59409192	+	Silent	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr8:59409192C>A	ENST00000301645.3	-	3	1016	c.879G>T	c.(877-879)gcG>gcT	p.A293A		NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A, polypeptide 1	293					bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding	p.A293A(1)		breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				TCCAGAAAGTCGCTGGAATGG	0.388000									Neonatal Giant Cell Hepatitis				8	82					1.06961e-07	1.54649e-07	0.003080	1	0
ZNF260	339324	broad.mit.edu	37	19	37005662	37005662	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr19:37005662C>G	ENST00000523638.1	-	3	1600	c.479G>C	c.(478-480)gGa>gCa	p.G160A	ZNF260_ENST00000588993.1_Missense_Mutation_p.G160A|ZNF260_ENST00000592282.1_Missense_Mutation_p.G160A|ZNF260_ENST00000593142.1_Missense_Mutation_p.G160A	NM_001166036.1|NM_001166037.1|NM_001166038.1	NP_001159508.1|NP_001159509.1|NP_001159510.1	Q3ZCT1	ZN260_HUMAN	zinc finger protein 260	160					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G160A(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)	15	Esophageal squamous(110;0.162)					TGGTTTTTCTCCAGTATGAAT	0.393000													25	212					0	0	0.005443	0	0
LRRC37A11P	342666	broad.mit.edu	37	17	37188142	37188142	+	RNA	SNP	G	G	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr17:37188142G>A	ENST00000425901.2	+	0	1984					NR_033753.2																						CAGCCCTGATGACTACAGCTC	0.512000													5	135					0	0	0.000602	0	0
PLD1	5337	broad.mit.edu	37	3	171395446	171395446	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr3:171395446C>T	ENST00000356327.5	-	16	1862	c.1792G>A	c.(1792-1794)Gag>Aag	p.E598K	PLD1_ENST00000340989.4_Missense_Mutation_p.E636K|PLD1_ENST00000342215.6_Silent_p.E526E|PLD1_ENST00000351298.4_Missense_Mutation_p.E636K	NM_001130081.2	NP_001123553.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	636	Catalytic.				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	p.E636K(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	CCATGCAGCTCTCCCACACCT	0.498000													4	122					0	0	0.000248	0	0
SPTLC3	55304	broad.mit.edu	37	20	13145412	13145412	+	Silent	SNP	T	T	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr20:13145412T>G	ENST00000399002.2	+	12	1831	c.1557T>G	c.(1555-1557)gcT>gcG	p.A519A		NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3	519					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups	p.A519A(1)		breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25					Pyridoxal Phosphate(DB00114)	TTTTAGAAGCTCTTGATGAAA	0.438000													3	20					0	0	0.004672	0	0
HS3ST5	222537	broad.mit.edu	37	6	114378474	114378474	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr6:114378474G>C	ENST00000312719.5	-	5	2176	c.988C>G	c.(988-990)Cct>Gct	p.P330A	RP3-399L15.3_ENST00000519270.1_RNA|RP3-399L15.3_ENST00000523087.1_RNA|HS3ST5_ENST00000411826.1_Missense_Mutation_p.P330A|RP3-399L15.3_ENST00000519104.1_RNA			Q8IZT8	HS3S5_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 5	330					heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding	p.P330A(1)		breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	41		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		TGATTAAAAGGATGAAAGAAT	0.408000													7	72					0	0	0.003080	0	0
HCCS	3052	broad.mit.edu	37	X	11136729	11136729	+	Silent	SNP	C	C	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chrX:11136729C>T	ENST00000321143.4	+	5	712	c.510C>T	c.(508-510)gcC>gcT	p.A170A	ARHGAP6_ENST00000534860.1_Intron|HCCS_ENST00000380763.3_Silent_p.A170A|HCCS_ENST00000380762.4_Silent_p.A170A	NM_001122608.2|NM_001171991.2|NM_005333.4	NP_001116080.1|NP_001165462.1|NP_005324.3	P53701	CCHL_HUMAN	holocytochrome c synthase	170					organ morphogenesis|oxidation-reduction process	mitochondrial inner membrane	holocytochrome-c synthase activity|metal ion binding	p.A170A(1)		kidney(1)|large_intestine(3)|lung(3)	7						AGTGGGAAGCCCTTCATGCTG	0.348000													10	59					0	0	0.008291	0	0
CDC42BPA	8476	broad.mit.edu	37	1	227257519	227257519	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr1:227257519C>G	ENST00000366769.3	-	21	4154	c.2863G>C	c.(2863-2865)Gca>Cca	p.A955P	CDC42BPA_ENST00000366767.3_Missense_Mutation_p.A874P|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.A955P|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.A955P|CDC42BPA_ENST00000488131.1_5'UTR|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.A955P|CDC42BPA_ENST00000535525.1_Intron|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.A955P	NM_003607.3	NP_003598.2	Q5VT25	MRCKA_HUMAN	CDC42 binding protein kinase alpha (DMPK-like)	955					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.A955P(2)|p.A874P(1)		NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				TTCAAAAATGCCAAGAAAGAA	0.338000													3	48					0	0	0.000248	0	0
RNF183	138065	broad.mit.edu	37	9	116060272	116060272	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr9:116060272G>T	ENST00000478815.1	-	1	1773	c.193C>A	c.(193-195)Ctg>Atg	p.L65M	RNF183_ENST00000416588.2_Missense_Mutation_p.L65M|RNF183_ENST00000297894.5_Missense_Mutation_p.L65M|RNF183_ENST00000441031.3_Missense_Mutation_p.L65M			Q96D59	RN183_HUMAN	ring finger protein 183	65						integral to membrane	zinc ion binding	p.L65M(1)		lung(1)|prostate(1)|skin(1)	3						CCTGAGGCCAGCACTGTGGGC	0.657000													11	50					1.08611e-07	1.56247e-07	0.000978	1	0
HECW1	23072	broad.mit.edu	37	7	43508595	43508595	+	Missense_Mutation	SNP	T	T	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr7:43508595T>A	ENST00000395891.1	+	16	3595	c.2990T>A	c.(2989-2991)tTt>tAt	p.F997Y	HECW1_ENST00000453890.1_Missense_Mutation_p.F963Y	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	997					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	p.F997Y(1)|p.F976Y(1)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GCTCGCAATTTTGAACGCTAC	0.552000													9	61					0	0	0.004482	0	0
HSD3B7	80270	broad.mit.edu	37	16	30999168	30999168	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr16:30999168C>A	ENST00000297679.5	+	7	867	c.774C>A	c.(772-774)ttC>ttA	p.F258L	HSD3B7_ENST00000262520.6_3'UTR|HSD3B7_ENST00000353250.5_3'UTR	NM_025193.3	NP_079469.2	Q9H2F3	3BHS7_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7	258					bile acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity	p.F258L(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						AGGTATACTTCTGCTACGATG	0.647000													19	135					2.4624e-09	3.78932e-09	0.008871	1	0
RGS12	6002	broad.mit.edu	37	4	3429845	3429845	+	Silent	SNP	A	A	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr4:3429845A>T	ENST00000336727.3	+	15	4264	c.3360A>T	c.(3358-3360)ccA>ccT	p.P1120P	RGS12_ENST00000306648.7_Silent_p.P518P|RGS12_ENST00000338806.4_Silent_p.P472P|RGS12_ENST00000344733.5_Silent_p.P1120P|RGS12_ENST00000382788.3_Silent_p.P1120P|RGS12_ENST00000508158.1_3'UTR|RGS12_ENST00000538395.1_Silent_p.P462P	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	1120						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity	p.P1120P(1)		autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		AAGGTGTGCCAGTGAAACAGA	0.502000													10	163					0	0	0.008291	0	0
MYH3	4621	broad.mit.edu	37	17	10545805	10545805	+	Missense_Mutation	SNP	A	A	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr17:10545805A>T	ENST00000583535.1	-	16	1904	c.1817T>A	c.(1816-1818)gTg>gAg	p.V606E	MYH3_ENST00000226209.7_Missense_Mutation_p.V606E	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	606	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	p.V606E(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						CAGCCCAACCACAGTCTCGTT	0.557000													6	114					0	0	0.001168	0	0
IGHV3OR16-8	388255	broad.mit.edu	37	16	33020677	33020677	+	RNA	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr16:33020677G>T	ENST00000565407.2	+	0	85				RP11-19N8.2_ENST00000567619.1_RNA														p.G29C(1)									GTCTGGGGGAGGCTTGGTACA	0.562000													8	194					0.000157383	0.000195114	0.003080	1	0
EFCAB5	374786	broad.mit.edu	37	17	28417673	28417673	+	Missense_Mutation	SNP	A	A	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr17:28417673A>G	ENST00000394835.3	+	20	4110	c.3918A>G	c.(3916-3918)atA>atG	p.I1306M	EFCAB5_ENST00000394832.2_Intron|EFCAB5_ENST00000320856.5_Missense_Mutation_p.I1182M|RP11-1148O4.2_ENST00000582938.1_RNA	NM_198529.3	NP_940931.2	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	1306							calcium ion binding	p.K1308fs*4(1)|p.I1306M(1)		breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CTGGAGAGATAAAGAAAAAAT	0.368000													25	142					0	0	0.004656	0	0
TENM4	26011	broad.mit.edu	37	11	78381548	78381548	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr11:78381548C>T	ENST00000278550.7	-	32	6304	c.5842G>A	c.(5842-5844)Gac>Aac	p.D1948N		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4									p.D1948N(2)									TCATTCTTGTCGAACTCAAAG	0.537000													13	61					0	0	0.001855	0	0
VEPH1	79674	broad.mit.edu	37	3	156979109	156979109	+	Silent	SNP	C	C	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr3:156979109C>T	ENST00000362010.2	-	14	2623	c.2316G>A	c.(2314-2316)gtG>gtA	p.V772V	VEPH1_ENST00000543418.1_Silent_p.V727V|RP11-550I24.2_ENST00000487238.1_RNA|RP11-550I24.2_ENST00000488040.1_RNA|RP11-550I24.2_ENST00000475102.1_RNA|VEPH1_ENST00000392832.2_Silent_p.V772V|VEPH1_ENST00000392833.2_Silent_p.V727V	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	772	PH.					plasma membrane		p.V772V(1)		autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			CCACAGCCTTCACACTCTGTA	0.488000													4	67					0	0	0.000248	0	0
GDF2	2658	broad.mit.edu	37	10	48414410	48414410	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr10:48414410T>C	ENST00000249598.1	-	2	617	c.458A>G	c.(457-459)tAt>tGt	p.Y153C		NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN	growth differentiation factor 2	153					activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	p.Y153C(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						ACAGGAGACATAGAGTCGGAG	0.493000													9	56					0	0	0.004482	0	0
ZNF639	51193	broad.mit.edu	37	3	179051750	179051750	+	Missense_Mutation	SNP	A	A	C			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr3:179051750A>C	ENST00000326361.3	+	7	1443	c.998A>C	c.(997-999)cAt>cCt	p.H333P	ZNF639_ENST00000496856.1_Missense_Mutation_p.H333P|ZNF639_ENST00000484866.1_Missense_Mutation_p.H333P	NM_016331.1	NP_057415.1	Q9UID6	ZN639_HUMAN	zinc finger protein 639	333					initiation of viral infection|negative regulation by host of viral transcription|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of cell growth|positive regulation of transcription, DNA-dependent	nucleus	protein self-association|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.H333P(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(10)|urinary_tract(1)	16	all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			GAAGACTTGCATAGCCATGTG	0.383000													10	90					0	0	0.006214	0	0
C1orf173	127254	broad.mit.edu	37	1	75086563	75086563	+	Silent	SNP	A	A	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr1:75086563A>G	ENST00000326665.5	-	8	1073	c.855T>C	c.(853-855)agT>agC	p.S285S	RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Silent_p.S88S	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	285								p.S285S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TAGCTGCATTACTATGTAAGG	0.343000													5	59					0	0	0.000602	0	0
OSBPL3	26031	broad.mit.edu	37	7	24874132	24874132	+	Silent	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr7:24874132C>A	ENST00000313367.2	-	15	2170	c.1719G>T	c.(1717-1719)gcG>gcT	p.A573A	OSBPL3_ENST00000396429.1_Silent_p.A537A|OSBPL3_ENST00000353930.1_Silent_p.A537A|OSBPL3_ENST00000396431.1_Silent_p.A542A|OSBPL3_ENST00000431825.2_Silent_p.A506A|OSBPL3_ENST00000409069.1_Silent_p.A506A|OSBPL3_ENST00000352860.1_Silent_p.A542A	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	573					lipid transport		lipid binding|protein binding	p.A573A(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						TGGGAATCTGCGCGGCCTTGT	0.647000													7	68					8.12818e-05	0.000102315	0.001984	1	0
TACR1	6869	broad.mit.edu	37	2	75425737	75425737	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr2:75425737G>C	ENST00000305249.4	-	1	1089	c.324C>G	c.(322-324)caC>caG	p.H108Q	TACR1_ENST00000409848.3_Missense_Mutation_p.H108Q	NM_001058.3	NP_001049.1	P25103	NK1R_HUMAN	tachykinin receptor 1	108					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|detection of abiotic stimulus|mechanosensory behavior	integral to plasma membrane	protein binding	p.H108Q(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1)	24					Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)	GAAAGAAGTTGTGGAACTTGC	0.512000													12	56					0	0	0.000978	0	0
ZNF214	7761	broad.mit.edu	37	11	7022175	7022175	+	Missense_Mutation	SNP	A	A	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr11:7022175A>G	ENST00000278314.4	-	3	1054	c.739T>C	c.(739-741)Tgt>Cgt	p.C247R	ZNF214_ENST00000536068.1_Missense_Mutation_p.C247R	NM_013249.2	NP_037381.2	Q9UL59	ZN214_HUMAN	zinc finger protein 214	247					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.C247R(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		GAGCATTGACAGAGGTTTTCT	0.383000													11	113					0	0	0.001368	0	0
LST3	0	broad.mit.edu	37	12	21196363	21196363	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr12:21196363C>A	ENST00000381541.3	+	7	888	c.823C>A	c.(823-825)Cca>Aca	p.P275T	SLCO1B3_ENST00000553473.1_Intron|SLCO1B7_ENST00000554957.1_Missense_Mutation_p.P275T|SLCO1B7_ENST00000421593.2_Missense_Mutation_p.P228T|LST3_ENST00000540229.1_Intron														p.P228T(1)									TTCTTCTATACCATTCTTTTT	0.363000													6	114					5.18039e-06	6.98015e-06	0.003080	1	0
CAPRIN2	65981	broad.mit.edu	37	12	30881655	30881655	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr12:30881655C>A	ENST00000251071.5	-	8	2459	c.1709G>T	c.(1708-1710)tGg>tTg	p.W570L	CAPRIN2_ENST00000308433.5_Missense_Mutation_p.W237L|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.W570L|CAPRIN2_ENST00000538387.1_5'UTR|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.W570L|CAPRIN2_ENST00000395805.2_Missense_Mutation_p.W570L	NM_001002259.1|NM_032156.3	NP_001002259.1|NP_115532.3	Q6IMN6	CAPR2_HUMAN	caprin family member 2	570					negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding	p.W570F(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					AGCTACTCCCCAGGACTTTGG	0.443000													14	83					1.5842e-08	2.36805e-08	0.001855	1	0
C20orf166	128826	broad.mit.edu	37	20	61167750	61167750	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr20:61167750C>A	ENST00000370527.3	+	4	999	c.220C>A	c.(220-222)Ccc>Acc	p.P74T	C20orf166_ENST00000370524.2_Missense_Mutation_p.P56T|C20orf166_ENST00000370523.1_Missense_Mutation_p.P56T	NM_178463.3	NP_848558.1	Q9H1L0	CT166_HUMAN	chromosome 20 open reading frame 166	74								p.P74T(1)		endometrium(1)|kidney(1)|lung(2)	4	Breast(26;1.04e-08)		BRCA - Breast invasive adenocarcinoma(19;7.17e-06)			TCAGCCCCAGCCCCACAGTGC	0.522000													13	53					7.03913e-09	1.06328e-08	0.001368	1	0
BEND2	139105	broad.mit.edu	37	X	18234682	18234682	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chrX:18234682C>A	ENST00000380033.4	-	2	329	c.197G>T	c.(196-198)gGc>gTc	p.G66V	BEND2_ENST00000380030.3_Missense_Mutation_p.G66V	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	66								p.G66V(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						ATCATTGCCGCCTGGAAAATT	0.413000													8	72					5.18039e-06	6.98015e-06	0.003080	1	0
OR2T33	391195	broad.mit.edu	37	1	248436663	248436663	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr1:248436663C>G	ENST00000318021.2	-	1	475	c.454G>C	c.(454-456)Gct>Cct	p.A152P		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A152P(1)		NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			AGCCCGTCAGCTGCACCCAGG	0.587000													23	126					0	0	0.007291	0	0
CLEC4E	26253	broad.mit.edu	37	12	8688715	8688715	+	Silent	SNP	C	C	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr12:8688715C>T	ENST00000299663.3	-	5	624	c.459G>A	c.(457-459)gtG>gtA	p.V153V	CLEC4E_ENST00000446457.2_Intron|CLEC4E_ENST00000545274.1_Silent_p.V108V	NM_014358.2	NP_055173.1	Q9ULY5	CLC4E_HUMAN	C-type lectin domain family 4, member E	153	C-type lectin.					integral to membrane	sugar binding	p.V153V(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Lung SC(5;0.184)					GTGTGCCGTCCACCCATTGCC	0.433000													8	67					0	0	0.004482	0	0
SERPINB4	6318	broad.mit.edu	37	18	61305132	61305132	+	Missense_Mutation	SNP	C	C	A	rs144633926	byFrequency	TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr18:61305132C>A	ENST00000341074.5	-	8	1109	c.994G>T	c.(994-996)Gcc>Tcc	p.A332S	SERPINB4_ENST00000356424.6_Missense_Mutation_p.A280S	NM_002974.2	NP_002965.1			serpin peptidase inhibitor, clade B (ovalbumin), member 4									p.A332S(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						TCCACAAAGGCCTTGTGTAGG	0.493000													7	138					2.0095e-06	2.77272e-06	0.001984	1	0
SERINC3	10955	broad.mit.edu	37	20	43142613	43142613	+	Silent	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr20:43142613C>A	ENST00000342374.4	-	2	265	c.108G>T	c.(106-108)acG>acT	p.T36T	SERINC3_ENST00000468234.1_5'UTR|SERINC3_ENST00000255175.1_Silent_p.T36T|SERINC3_ENST00000541235.1_5'UTR	NM_006811.2	NP_006802.1	Q13530	SERC3_HUMAN	serine incorporator 3	36						integral to membrane|plasma membrane	protein binding	p.V37L(1)		endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)			GGCGAGTCACCGTGGAATTCT	0.468000													9	102					2.80697e-09	4.27375e-09	0.000978	1	0
TGFB2	7042	broad.mit.edu	37	1	218614594	218614594	+	Missense_Mutation	SNP	T	T	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr1:218614594T>A	ENST00000366929.4	+	8	1686	c.1219T>A	c.(1219-1221)Tgc>Agc	p.C407S	TGFB2_ENST00000366930.4_Missense_Mutation_p.C379S|TGFB2_ENST00000479322.1_3'UTR	NM_001135599.2	NP_001129071.1	P61812	TGFB2_HUMAN	transforming growth factor, beta 2	379					activation of protein kinase activity|angiogenesis|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cardioblast differentiation|catagen|cell cycle arrest|cell death|cell growth|cell-cell junction organization|cell-cell signaling|collagen fibril organization|dopamine biosynthetic process|embryonic digestive tract development|eye development|glial cell migration|hair follicle morphogenesis|hemopoiesis|menstrual cycle phase|negative regulation of alkaline phosphatase activity|negative regulation of cell growth|negative regulation of epithelial cell proliferation|negative regulation of immune response|negative regulation of macrophage cytokine production|neuron development|neutrophil chemotaxis|odontogenesis|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of cardioblast differentiation|positive regulation of catagen|positive regulation of cell adhesion mediated by integrin|positive regulation of cell cycle|positive regulation of cell division|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of epithelial cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of heart contraction|positive regulation of immune response|positive regulation of integrin biosynthetic process|positive regulation of neuron apoptosis|positive regulation of ossification|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein secretion|positive regulation of stress-activated MAPK cascade|regulation of transforming growth factor-beta2 production|response to hypoxia|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein import into nucleus|somatic stem cell division|transforming growth factor beta receptor signaling pathway	axon|extracellular matrix|extracellular space|neuronal cell body|platelet alpha granule lumen	beta-amyloid binding|cytokine activity|growth factor activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling protein serine/threonine kinase activity|type II transforming growth factor beta receptor binding	p.C379S(1)|p.C407S(1)		breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1)	31				all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)		TGCTTCTCCTTGCTGCGTGTC	0.408000													8	133					0	0	0.003080	0	0
EXOC4	60412	broad.mit.edu	37	7	133682312	133682312	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr7:133682312G>C	ENST00000253861.4	+	15	2303	c.2274G>C	c.(2272-2274)caG>caC	p.Q758H	EXOC4_ENST00000545148.1_Missense_Mutation_p.Q368H|EXOC4_ENST00000541309.1_Missense_Mutation_p.Q46H|EXOC4_ENST00000539845.1_Missense_Mutation_p.Q657H	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	758					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding	p.Q758H(1)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				AGATCATGCAGACTCTCAGTG	0.493000													5	58					0	0	0.001168	0	0
BTBD11	121551	broad.mit.edu	37	12	108042999	108042999	+	Missense_Mutation	SNP	T	T	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr12:108042999T>A	ENST00000280758.5	+	15	3467	c.2939T>A	c.(2938-2940)cTc>cAc	p.L980H	BTBD11_ENST00000357167.4_Missense_Mutation_p.L517H|BTBD11_ENST00000490090.2_Missense_Mutation_p.L980H|BTBD11_ENST00000494235.2_Missense_Mutation_p.L59H|BTBD11_ENST00000420571.2_Missense_Mutation_p.L861H	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	980	BTB.					integral to membrane	DNA binding	p.L980H(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						ATGCAGTATCTCTACTATGGT	0.473000													8	90					0	0	0.004482	0	0
TEX15	56154	broad.mit.edu	37	8	30705192	30705192	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr8:30705192C>T	ENST00000256246.2	-	1	1416	c.1342G>A	c.(1342-1344)Gaa>Aaa	p.E448K		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	448								p.E448K(1)		NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		CCCCTATCTTCAACATAAGCA	0.333000													27	194					0	0	0.006320	0	0
RHPN1	114822	broad.mit.edu	37	8	144464814	144464814	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr8:144464814G>T	ENST00000289013.6	+	15	2107	c.2006G>T	c.(2005-2007)tGg>tTg	p.W669L		NM_052924.2	NP_443156.2	Q8TCX5	RHPN1_HUMAN	rhophilin, Rho GTPase binding protein 1	694					signal transduction	intracellular		p.W669L(2)		endometrium(1)|large_intestine(1)|lung(7)	9	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156)			CACCCAGGGTGGCCGTGAGGG	0.682000													3	21					6.4e-05	8.12923e-05	0.004672	1	0
PTPRZ1	5803	broad.mit.edu	37	7	121651876	121651876	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr7:121651876C>G	ENST00000393386.2	+	12	3187	c.2776C>G	c.(2776-2778)Cct>Gct	p.P926A	PTPRZ1_ENST00000483028.1_Intron|PTPRZ1_ENST00000449182.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	926					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	p.P926A(2)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						AGGGCCTGAACCTTCTTATGC	0.433000													17	129					0	0	0.006122	0	0
RYK	6259	broad.mit.edu	37	3	133894484	133894484	+	Missense_Mutation	SNP	A	A	C			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr3:133894484A>C	ENST00000427044.2	-	14	1587	c.977T>G	c.(976-978)gTt>gGt	p.V326G	RYK_ENST00000296084.4_Missense_Mutation_p.V516G			P34925	RYK_HUMAN	receptor-like tyrosine kinase	512					corpus callosum development|positive regulation of MAPKKK cascade|Wnt receptor signaling pathway	cytoplasm|integral to plasma membrane|nucleus	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(1)|ovary(3)	4						CTCGTTATTAACCAGACTTTC	0.453000													5	253					0	0	0.000602	0	0
RYR1	6261	broad.mit.edu	37	19	39001357	39001357	+	Missense_Mutation	SNP	A	A	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr19:39001357A>G	ENST00000355481.4	+	60	9189	c.9058A>G	c.(9058-9060)Act>Gct	p.T3020A	RYR1_ENST00000359596.3_Missense_Mutation_p.T3020A|RYR1_ENST00000360985.3_Missense_Mutation_p.T3020A	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3020					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.T3020A(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TTTCTTGTCCACTCCGGCTAA	0.582000													32	175					0	0	0.004289	0	0
TACR3	6870	broad.mit.edu	37	4	104511146	104511146	+	Missense_Mutation	SNP	C	C	T	rs150288991		TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr4:104511146C>T	ENST00000304883.2	-	5	1231	c.1091G>A	c.(1090-1092)cGa>cAa	p.R364Q	RP11-297P16.3_ENST00000502936.1_RNA|RP11-297P16.3_ENST00000512401.1_RNA	NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	364						integral to plasma membrane	tachykinin receptor activity	p.R364Q(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		GAAGCCAGCTCGAAATCTGAG	0.428000													7	30					0	0	0.001984	0	0
GRIA1	2890	broad.mit.edu	37	5	153029928	153029928	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr5:153029928G>C	ENST00000285900.5	+	4	842	c.499G>C	c.(499-501)Gag>Cag	p.E167Q	GRIA1_ENST00000448073.4_Missense_Mutation_p.E177Q|GRIA1_ENST00000518862.1_3'UTR|GRIA1_ENST00000521843.2_Missense_Mutation_p.E98Q|GRIA1_ENST00000518783.1_Missense_Mutation_p.E177Q|GRIA1_ENST00000340592.5_Missense_Mutation_p.E167Q|GRIA1_ENST00000518142.1_Missense_Mutation_p.E87Q	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	167					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	p.E167Q(2)		NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TACAGCTGCTGAGAAGAACTG	0.498000													3	87					0	0	0.000248	0	0
ANKRD20A8P	729171	broad.mit.edu	37	2	95522772	95522772	+	RNA	SNP	T	T	C			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr2:95522772T>C	ENST00000432432.2	-	0	255					NR_040113.1													p.E49G(1)									GCGCTCCACCTCCGCGGCGTC	0.682000													4	64					0	0	0.000248	0	0
AHR	196	broad.mit.edu	37	7	17375401	17375401	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr7:17375401G>A	ENST00000242057.4	+	9	1794	c.1151G>A	c.(1150-1152)aGa>aAa	p.R384K	AHR_ENST00000492120.1_3'UTR	NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	384	PAC.				apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	p.R384K(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)					GTAACTCAGAGACCACTAACG	0.353000													6	33					0	0	0.004482	0	0
SIGLEC12	89858	broad.mit.edu	37	19	52000183	52000183	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr19:52000183C>T	ENST00000291707.3	-	7	1605	c.1550G>A	c.(1549-1551)gGg>gAg	p.G517E	SIGLEC12_ENST00000598614.1_Missense_Mutation_p.G399E	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	517					cell adhesion	integral to membrane	sugar binding	p.G517E(1)		NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		GCCTGTATCCCCCACGCCCAC	0.592000													6	83					0	0	0.006214	0	0
FAT4	79633	broad.mit.edu	37	4	126411064	126411064	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr4:126411064G>C	ENST00000394329.3	+	17	13100	c.13087G>C	c.(13087-13089)Gat>Cat	p.D4363H	FAT4_ENST00000335110.5_Missense_Mutation_p.D2604H	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4363	Laminin G-like 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D4363H(1)|p.D4306H(1)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AGCAGGTTTTGATGGCTGCAT	0.408000													18	178					0	0	0.006122	0	0
NCAPD3	23310	broad.mit.edu	37	11	134063941	134063941	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr11:134063941C>A	ENST00000534548.2	-	15	1858	c.1794G>T	c.(1792-1794)caG>caT	p.Q598H		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	598					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding	p.Q598_A599>HP(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		ACTGGAGGGCCTGCTTCCGGA	0.438000													11	46					4.68919e-08	6.84884e-08	0.008291	1	0
STK32B	55351	broad.mit.edu	37	4	5333033	5333033	+	Missense_Mutation	SNP	T	T	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr4:5333033T>A	ENST00000282908.5	+	4	769	c.347T>A	c.(346-348)gTg>gAg	p.V116E	STK32B_ENST00000512636.1_Missense_Mutation_p.V69E|STK32B_ENST00000510398.1_Missense_Mutation_p.V69E	NM_018401.1	NP_060871.1	Q9NY57	ST32B_HUMAN	serine/threonine kinase 32B	116	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity	p.V116E(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	39						CAGCAGAATGTGCATTTCACA	0.547000													5	48					0	0	0.000602	0	0
CTC1	80169	broad.mit.edu	37	17	8138501	8138501	+	Nonsense_Mutation	SNP	G	G	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr17:8138501G>A	ENST00000315684.8	-	8	1316	c.1309C>T	c.(1309-1311)Cag>Tag	p.Q437*		NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	437					positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding	p.Q437*(1)		NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						CCAGGCTTCTGACGAGAGAAG	0.627000													13	103					0	0	0.001368	0	0
AACS	65985	broad.mit.edu	37	12	125613889	125613889	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr12:125613889G>T	ENST00000316519.6	+	14	1638	c.1432G>T	c.(1432-1434)Gtc>Ttc	p.V478F	AACS_ENST00000261686.6_Missense_Mutation_p.V478F|AACS_ENST00000543665.1_5'UTR|AACS_ENST00000545511.1_Silent_p.R57R|AACS_ENST00000316543.10_Missense_Mutation_p.V76F	NM_023928.3	NP_076417.2	Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	478					fatty acid metabolic process	cytosol	acetoacetate-CoA ligase activity|ATP binding	p.V478F(1)		breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		AGGAAAGGCGGTCTGGGGAGA	0.507000													25	143					5.35047e-06	7.19244e-06	0.003330	1	0
THOC6	79228	broad.mit.edu	37	16	3074344	3074344	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr16:3074344C>T	ENST00000326266.8	+	1	313	c.17C>T	c.(16-18)cCg>cTg	p.P6L	THOC6_ENST00000574549.1_5'UTR|THOC6_ENST00000575576.1_5'UTR|THOC6_ENST00000253952.9_Missense_Mutation_p.P6L	NM_024339.3	NP_077315.2	Q86W42	THOC6_HUMAN	THO complex 6 homolog (Drosophila)	6					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	RNA binding	p.P6L(1)		central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	13						CGAGCTGTGCCGCTCGCGGTG	0.647000													5	36					0	0	0.001984	0	0
PSG4	5672	broad.mit.edu	37	19	43702175	43702175	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr19:43702175C>A	ENST00000405312.3	-	3	920	c.683G>T	c.(682-684)aGt>aTt	p.S228I	PSG4_ENST00000433626.2_Intron|PSG4_ENST00000244295.9_Missense_Mutation_p.S228I	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	228	Ig-like C2-type 1.				defense response|female pregnancy	extracellular region		p.S228I(2)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				GACTGGGTCACTGCGGCTGGC	0.517000													111	276					1.11784e-71	2.03695e-71	0.003610	1	0
SNCA	6622	broad.mit.edu	37	4	90743476	90743476	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr4:90743476G>C	ENST00000394989.2	-	3	447	c.185C>G	c.(184-186)gCa>gGa	p.A62G	SNCA_ENST00000394991.3_Missense_Mutation_p.A76G|SNCA_ENST00000420646.2_Missense_Mutation_p.A76G|SNCA_ENST00000508895.1_Missense_Mutation_p.A76G|SNCA_ENST00000505199.1_Missense_Mutation_p.A62G|SNCA_ENST00000502987.1_Missense_Mutation_p.A76G|SNCA_ENST00000506244.1_Missense_Mutation_p.A76G|SNCA_ENST00000394986.1_Missense_Mutation_p.A76G|SNCA_ENST00000345009.4_Missense_Mutation_p.A76G|SNCA_ENST00000336904.3_Missense_Mutation_p.A76G			P37840	SYUA_HUMAN	synuclein, alpha (non A4 component of amyloid precursor)	76	4 X 11 AA tandem repeats of [EGS]-K-T-K- [EQ]-[GQ]-V-X(4).				activation of caspase activity|anti-apoptosis|negative regulation of dopamine uptake|negative regulation of exocytosis|negative regulation of histone acetylation|negative regulation of microtubule polymerization|negative regulation of monooxygenase activity|negative regulation of norepinephrine uptake|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of serotonin uptake|negative regulation of thrombin receptor signaling pathway|negative regulation of transporter activity|positive regulation of endocytosis|positive regulation of inositol phosphate biosynthetic process|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein serine/threonine kinase activity|positive regulation of receptor recycling|positive regulation of release of sequestered calcium ion into cytosol|receptor internalization|regulation of phospholipase activity|response to interferon-gamma|response to interleukin-1|response to iron(II) ion|response to lipopolysaccharide|response to magnesium ion|synaptic vesicle endocytosis	actin cytoskeleton|axon|cell cortex|cell junction|cytosol|fibril|growth cone|nucleus|synapse	alpha-tubulin binding|calcium ion binding|caspase inhibitor activity|dynein binding|ferrous iron binding|histone binding|Hsp70 protein binding|kinesin binding|magnesium ion binding|phosphoprotein binding|tau protein binding|zinc ion binding	p.A76G(1)		kidney(1)|large_intestine(2)|lung(4)|ovary(1)	8		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.42e-05)	Melatonin(DB01065)	CTGGGCTACTGCTGTCACACC	0.502000													3	53					0	0	0.000248	0	0
EPHX4	253152	broad.mit.edu	37	1	92511124	92511124	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr1:92511124G>T	ENST00000370383.4	+	4	609	c.511G>T	c.(511-513)Ggg>Tgg	p.G171W		NM_173567.4	NP_775838.3	Q8IUS5	EPHX4_HUMAN	epoxide hydrolase 4	171						integral to membrane	hydrolase activity	p.G171L(1)		central_nervous_system(1)|large_intestine(3)|lung(8)	12						CCATGACTGGGGGGGCATGAT	0.388000													21	126					1.15919e-05	1.53312e-05	0.008871	1	0
RNF217-AS1	7955	broad.mit.edu	37	6	125233437	125233437	+	RNA	SNP	G	G	C			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr6:125233437G>C	ENST00000439075.1	-	0	1308					NR_026876.1																						GCAGAAGACAGAAGTGAATTG	0.398000													12	94					0	0	0.001855	0	0
COL5A1	1289	broad.mit.edu	37	9	137716554	137716554	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr9:137716554G>T	ENST00000371817.3	+	62	5221	c.4807G>T	c.(4807-4809)Gac>Tac	p.D1603Y		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1603	Nonhelical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	p.D1603Y(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GAACTACGTGGACTACGCGGA	0.622000													6	44					0.000157383	0.000195114	0.003080	1	0
CHD6	84181	broad.mit.edu	37	20	40161981	40161981	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr20:40161981C>T	ENST00000373233.3	-	3	439	c.262G>A	c.(262-264)Gga>Aga	p.G88R	CHD6_ENST00000309279.7_Missense_Mutation_p.G88R|CHD6_ENST00000373222.3_Missense_Mutation_p.G123R	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	88	Poly-Gly.				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	p.G88R(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CCAGTACCTCCTCCTCCACTG	0.507000													11	138					0	0	0.008291	0	0
WDFY3	23001	broad.mit.edu	37	4	85731418	85731418	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr4:85731418G>C	ENST00000322366.6	-	14	2374	c.1967C>G	c.(1966-1968)tCc>tGc	p.S656C	WDFY3-AS1_ENST00000510449.1_RNA|WDFY3_ENST00000295888.4_Missense_Mutation_p.S656C			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	656						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	p.S656C(1)		breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		AACGAGCAAGGATGTAATGTA	0.438000													5	50					0	0	0.000602	0	0
KRT37	8688	broad.mit.edu	37	17	39580631	39580631	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr17:39580631C>G	ENST00000225550.3	-	1	144	c.145G>C	c.(145-147)Gtg>Ctg	p.V49L	AC003958.2_ENST00000432258.1_RNA	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN	keratin 37	49	Head.					intermediate filament	structural molecule activity	p.V49L(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				GCGTGTGCCACGTTGGCCAAG	0.617000													12	63					0	0	0.001855	0	0
SIRPB1	10326	broad.mit.edu	37	20	1585397	1585397	+	Missense_Mutation	SNP	T	T	C	rs148754551	by1000genomes	TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr20:1585397T>C	ENST00000279477.7	-	3	806	c.742A>G	c.(742-744)Acc>Gcc	p.T248A	SIRPB1_ENST00000568365.1_Missense_Mutation_p.T248A|SIRPB1_ENST00000381605.4_Intron|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381603.3_Intron	NM_001135844.2	NP_001129316.1	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	248					cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding	p.T248A(5)		central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						CCTCGGATGGTCTCAGACAAG	0.627000													8	26					0	0	0.008291	0	0
ZNF804B	219578	broad.mit.edu	37	7	88847491	88847491	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr7:88847491C>G	ENST00000333190.4	+	2	740	c.131C>G	c.(130-132)aCa>aGa	p.T44R		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	44						intracellular	zinc ion binding	p.T44R(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			AAGAAGTCCACAGCAAAGGCC	0.343000										HNSCC(36;0.09)			8	66					0	0	0.004482	0	0
LRFN2	57497	broad.mit.edu	37	6	40400795	40400795	+	Missense_Mutation	SNP	C	C	A	rs149939756		TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr6:40400795C>A	ENST00000338305.6	-	2	600	c.58G>T	c.(58-60)Gcc>Tcc	p.A20S		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	20						cell junction|integral to membrane|postsynaptic membrane		p.A20S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					TTGGGGCAGGCGTCGACCACG	0.602000													9	48					7.48243e-07	1.04245e-06	0.006214	1	0
MYCBP2	23077	broad.mit.edu	37	13	77779653	77779653	+	Missense_Mutation	SNP	T	T	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr13:77779653T>G	ENST00000407578.2	-	25	3936	c.3670A>C	c.(3670-3672)Aag>Cag	p.K1224Q	MYCBP2_ENST00000544440.2_Missense_Mutation_p.K1186Q|MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Missense_Mutation_p.K1186Q	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	1186					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	p.K1186Q(2)|p.K1224Q(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GAATAAACCTTCATTACTGCT	0.348000													5	33					0	0	0.000602	0	0
SWI5	375757	broad.mit.edu	37	9	131050954	131050954	+	Missense_Mutation	SNP	A	A	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr9:131050954A>G	ENST00000320188.4	+	5	667	c.667A>G	c.(667-669)Aaa>Gaa	p.K223E		NM_001040011.1	NP_001035100.1	Q1ZZU3	SWI5_HUMAN	SWI5 recombination repair homolog (yeast)	223					double-strand break repair via homologous recombination	Swi5-Sfr1 complex	protein binding	p.K223E(1)									TGTCACCACCAAAGAGTTGTA	0.557000													16	172					0	0	0.008871	0	0
ACTBL2	345651	broad.mit.edu	37	5	56777979	56777979	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr5:56777979G>T	ENST00000423391.1	-	1	657	c.556C>A	c.(556-558)Ctg>Atg	p.L186M	CTD-2023N9.1_ENST00000506106.1_RNA	NM_001017992.3	NP_001017992.1	Q562R1	ACTBL_HUMAN	actin, beta-like 2	186						cytoplasm|cytoskeleton	ATP binding	p.L186M(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2)	28		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)		TAATCAGTCAGGTCTCTCCCT	0.527000													4	81					0.00024832	0.000305871	0.000248	1	0
MUC5B	727897	broad.mit.edu	37	11	1263496	1263496	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr11:1263496G>A	ENST00000447027.1	+	31	5453	c.5395G>A	c.(5395-5397)Gtg>Atg	p.V1799M	MUC5B_ENST00000529681.1_Missense_Mutation_p.V1796M|RP11-532E4.2_ENST00000532061.2_RNA			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1796	7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	p.V1796M(1)|p.V1799M(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GTGGTTTGACGTGGACTTCCC	0.572000													7	61					0	0	0.003080	0	0
SF3B1	23451	broad.mit.edu	37	2	198274523	198274523	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr2:198274523C>T	ENST00000335508.5	-	7	966	c.875G>A	c.(874-876)aGa>aAa	p.R292K		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	292	Interaction with PPP1R8.				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	p.R292K(1)		NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TTCATCCCATCTGTTTTTACG	0.512000			Mis		myelodysplastic syndrome								33	434					0	0	0.003271	0	0
PTCHD4	442213	broad.mit.edu	37	6	47847511	47847511	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr6:47847511G>T	ENST00000339488.4	-	3	1102	c.1069C>A	c.(1069-1071)Cca>Aca	p.P357T		NM_001013732.3	NP_001013754.3	Q6ZW05	CF138_HUMAN	patched domain containing 4	357	SSD.					integral to membrane	hedgehog receptor activity	p.P357T(2)									TTTGTGAATGGGCTGGCACCC	0.453000													8	33					0.00621372	0.00714764	0.006214	1	0
KIF5A	3798	broad.mit.edu	37	12	57974797	57974797	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr12:57974797G>T	ENST00000455537.2	+	24	2871	c.2597G>T	c.(2596-2598)aGg>aTg	p.R866M	KIF5A_ENST00000286452.5_Missense_Mutation_p.R777M	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	866					blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity	p.R866M(1)		breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						AAACGACTTAGGGCTACGGCT	0.562000													9	47					0.000442599	0.000540536	0.006214	1	0
PALD1	27143	broad.mit.edu	37	10	72292490	72292490	+	Silent	SNP	G	G	C			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr10:72292490G>C	ENST00000263563.6	+	6	1015	c.747G>C	c.(745-747)gtG>gtC	p.V249V		NM_014431.2	NP_055246.2			phosphatase domain containing, paladin 1									p.V249V(1)									ACTTGCATGTGACGGAGGAGG	0.627000													15	103					0	0	0.004990	0	0
EXTL1	2134	broad.mit.edu	37	1	26349661	26349661	+	Missense_Mutation	SNP	T	T	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr1:26349661T>A	ENST00000374280.3	+	1	1391	c.524T>A	c.(523-525)cTg>cAg	p.L175Q		NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1	175					skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding	p.L175Q(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		ACCTTCCAGCTGGGACAGGCT	0.642000													4	29					0	0	0.000248	0	0
APBB1	322	broad.mit.edu	37	11	6423818	6423818	+	Silent	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr11:6423818C>A	ENST00000389906.2	-	7	1341	c.1242G>T	c.(1240-1242)ggG>ggT	p.G414G	APBB1_ENST00000299402.6_Silent_p.G414G|APBB1_ENST00000524626.1_5'UTR|APBB1_ENST00000311051.3_Silent_p.G414G|APBB1_ENST00000530885.1_Silent_p.G194G|APBB1_ENST00000533407.1_Silent_p.G155G	NM_001257325.1	NP_001244254.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	414	PID 1.				apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding	p.G414G(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		CCCCCCAGCCCCCAGACATGG	0.582000													22	86					1.50039e-11	2.43284e-11	0.001882	1	0
DST	667	broad.mit.edu	37	6	56765373	56765373	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr6:56765373G>T	ENST00000370754.5	-	3	262	c.263C>A	c.(262-264)gCc>gAc	p.A88D				Q03001	DYST_HUMAN	dystonin	0	Actin-binding.|CH 1.				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	p.A88D(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GGCAGCTGCGGCCGCTGCAAC	0.502000													20	92					1.01871e-10	1.61978e-10	0.008871	1	0
PNLIP	5406	broad.mit.edu	37	10	118314905	118314905	+	Nonsense_Mutation	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr10:118314905G>T	ENST00000369221.2	+	8	725	c.697G>T	c.(697-699)Gga>Tga	p.G233*		NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase	233					lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity	p.G233*(2)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Bentiromide(DB00522)|Orlistat(DB01083)	TTCAGGGTTTGGAATGAGCCA	0.423000													6	73					0.00198382	0.00231917	0.001984	1	0
CSPG4	1464	broad.mit.edu	37	15	75983101	75983101	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr15:75983101G>A	ENST00000308508.5	-	3	397	c.305C>T	c.(304-306)aCg>aTg	p.T102M		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	102	Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 1.|Neurite growth inhibition (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity	p.T102M(1)		breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						ACTCAGCAGCGTCTCTGCTGG	0.582000													6	79					0	0	0.003080	0	0
MXRA5	25878	broad.mit.edu	37	X	3240552	3240552	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chrX:3240552C>A	ENST00000217939.6	-	5	3328	c.3174G>T	c.(3172-3174)aaG>aaT	p.K1058N		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1058						extracellular region		p.K1058N(2)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CTTTCATACCCTTTTTAATCA	0.463000													9	110					1.12685e-05	1.49379e-05	0.004482	1	0
TRDV1	28518	broad.mit.edu	37	14	22564597	22564597	+	RNA	SNP	A	A	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr14:22564597A>T	ENST00000390452.2	+	0	67																											TTTTTCCCACAGGATCAAGTG	0.418000													91	169					0	0	0.003610	0	0
SERINC3	10955	broad.mit.edu	37	20	43142612	43142612	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr20:43142612C>A	ENST00000342374.4	-	2	266	c.109G>T	c.(109-111)Gtg>Ttg	p.V37L	SERINC3_ENST00000468234.1_5'UTR|SERINC3_ENST00000255175.1_Missense_Mutation_p.V37L|SERINC3_ENST00000541235.1_5'UTR	NM_006811.2	NP_006802.1	Q13530	SERC3_HUMAN	serine incorporator 3	37						integral to membrane|plasma membrane	protein binding	p.V37L(1)		endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)			AGGCGAGTCACCGTGGAATTC	0.468000													9	99					2.80697e-09	4.27375e-09	0.000978	1	0
PHC1	1911	broad.mit.edu	37	12	9089500	9089500	+	Missense_Mutation	SNP	A	A	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr12:9089500A>T	ENST00000433083.2	+	11	2427	c.2282A>T	c.(2281-2283)tAc>tTc	p.Y761F	PHC1_ENST00000536844.1_Missense_Mutation_p.Y412F|PHC1_ENST00000544916.1_Missense_Mutation_p.Y806F|PHC1_ENST00000543824.1_Missense_Mutation_p.Y806F			P78364	PHC1_HUMAN	polyhomeotic homolog 1 (Drosophila)	806					multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding	p.Y806F(1)		breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						TGTGGGAAGTACGCCCCCGCA	0.527000													4	33					0	0	0.000248	0	0
OR10H5	284433	broad.mit.edu	37	19	15905246	15905246	+	Silent	SNP	C	C	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr19:15905246C>T	ENST00000308940.8	+	1	486	c.388C>T	c.(388-390)Ctg>Ttg	p.L130L		NM_001004466.1	NP_001004466.1	Q8NGA6	O10H5_HUMAN	olfactory receptor, family 10, subfamily H, member 5	130					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L130L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1)	20						CTGCCACCCCCTGCGTTACAA	0.627000													6	62					0	0	0.001168	0	0
PDE4B	5142	broad.mit.edu	37	1	66384348	66384348	+	Silent	SNP	C	C	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr1:66384348C>T	ENST00000329654.4	+	3	298	c.111C>T	c.(109-111)atC>atT	p.I37I	PDE4B_ENST00000371049.3_Silent_p.I37I	NM_001037341.1	NP_001032418.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	37					signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	p.I37I(1)		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)	CACTTGGGATCGACCTCTGGA	0.438000													6	104					0	0	0.001168	0	0
ZNF280A	129025	broad.mit.edu	37	22	22869861	22869861	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr22:22869861G>C	ENST00000302097.3	-	2	346	c.94C>G	c.(94-96)Ctg>Gtg	p.L32V		NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	32					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L32V(1)		endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		ACATAGATCAGATCTGGATCT	0.378000													3	98					0	0	0.004672	0	0
PDE9A	5152	broad.mit.edu	37	21	44151935	44151935	+	Silent	SNP	G	G	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr21:44151935G>A	ENST00000291539.6	+	5	378	c.318G>A	c.(316-318)ctG>ctA	p.L106L	PDE9A_ENST00000398234.3_Intron|PDE9A_ENST00000380328.2_Intron|PDE9A_ENST00000470987.1_Intron|PDE9A_ENST00000328862.6_Silent_p.L80L|PDE9A_ENST00000398232.3_Silent_p.L39L|PDE9A_ENST00000398236.3_Intron|PDE9A_ENST00000539837.1_Intron|PDE9A_ENST00000349112.3_Intron|PDE9A_ENST00000335512.4_Intron|PDE9A_ENST00000398225.3_Silent_p.L65L|PDE9A_ENST00000398224.3_Intron|PDE9A_ENST00000398227.3_Intron|PDE9A_ENST00000335440.6_Intron|PDE9A_ENST00000398229.3_Intron	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN	phosphodiesterase 9A	106					platelet activation|signal transduction	cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding	p.L106L(1)		breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						AGAGACCACTGAGGGACAGAC	0.582000													11	89					0	0	0.001368	0	0
FAM153C	653316	broad.mit.edu	37	5	177468724	177468724	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr5:177468724C>T	ENST00000398106.2	+	6	617	c.164C>T	c.(163-165)cCa>cTa	p.P55L	FAM153C_ENST00000507848.1_Missense_Mutation_p.P55L|FAM153C_ENST00000511189.1_Missense_Mutation_p.P84L					family with sequence similarity 153, member C									p.P132L(1)|p.P55L(1)		kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4	all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAGCATCTGCCAGGGCAGACA	0.493000													28	286					0	0	0.007291	0	0
FLG	2312	broad.mit.edu	37	1	152276015	152276015	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr1:152276015G>A	ENST00000368799.1	-	3	11382	c.11347C>T	c.(11347-11349)Cac>Tac	p.H3783Y	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3783	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.H3783Y(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACCCTGAGTGTCCAGACCTA	0.567000									Ichthyosis				261	562					0	0	0.003610	0	0
RGL3	57139	broad.mit.edu	37	19	11527319	11527319	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr19:11527319C>A	ENST00000380456.3	-	4	457	c.394G>T	c.(394-396)Gta>Tta	p.V132L	RGL3_ENST00000393423.3_Missense_Mutation_p.V132L	NM_001035223.2|NM_001161616.1	NP_001030300.2|NP_001155088.1	Q3MIN7	RGL3_HUMAN	ral guanine nucleotide dissociation stimulator-like 3	132	N-terminal Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular		p.V132L(1)		breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1)	18						AGATCTTGTACCGCTGTCTTC	0.567000													28	95					8.16721e-17	1.42926e-16	0.002096	1	0
OSBPL2	9885	broad.mit.edu	37	20	60864347	60864347	+	Silent	SNP	C	C	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr20:60864347C>T	ENST00000313733.3	+	12	1412	c.1210C>T	c.(1210-1212)Ctg>Ttg	p.L404L	OSBPL2_ENST00000439951.2_Intron|OSBPL2_ENST00000358053.2_Silent_p.L392L	NM_144498.1	NP_653081.1	Q9H1P3	OSBL2_HUMAN	oxysterol binding protein-like 2	404					lipid transport		lipid binding	p.L404L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			GGACTGCCGCCTGCGCCCTGA	0.607000													3	19					0	0	0.000248	0	0
SENP2	59343	broad.mit.edu	37	3	185347571	185347571	+	Splice_Site	SNP	A	A	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr3:185347571A>G	ENST00000296257.5	+	17	1949	c.1707_splice	c.e17-1	p.H570_splice	SENP2_ENST00000427465.2_Splice_Site_p.H394_splice|SENP2_ENST00000545472.1_Splice_Site_p.H560_splice	NM_021627.2	NP_067640.2	Q9HC62	SENP2_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 2	570					mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport|Wnt receptor signaling pathway	cytoplasm|nuclear membrane|nuclear pore	protein binding|SUMO-specific protease activity	p.H570R(1)|p.Q570R(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			TCTTTGCAGCACCAGATGCCT	0.473000													4	92					0	0	0.000602	0	0
VPS13B	157680	broad.mit.edu	37	8	100479783	100479783	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr8:100479783G>A	ENST00000395996.1	+	24	3698	c.3587G>A	c.(3586-3588)gGa>gAa	p.G1196E	VPS13B_ENST00000358544.2_Missense_Mutation_p.G1196E|VPS13B_ENST00000357162.2_Missense_Mutation_p.G1196E			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1196					protein transport			p.G1196E(2)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CTTGCTACGGGACCTGATACA	0.428000													17	152					0	0	0.004990	0	0
OBSCN	84033	broad.mit.edu	37	1	228479799	228479799	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr1:228479799G>T	ENST00000570156.2	+	44	11901	c.11827G>T	c.(11827-11829)Gac>Tac	p.D3943Y	OBSCN_ENST00000284548.11_Missense_Mutation_p.D3514Y|OBSCN_ENST00000422127.1_Missense_Mutation_p.D3514Y|OBSCN_ENST00000359599.6_Missense_Mutation_p.D2361Y|OBSCN_ENST00000366709.4_Missense_Mutation_p.D633Y|OBSCN_ENST00000366707.4_Missense_Mutation_p.D633Y	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2981	Ig-like 40.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	p.D3797Y(1)|p.D3568Y(1)|p.D3514Y(1)|p.D3698Y(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGCCATGGCGGACGCCGGGGA	0.622000													22	92					2.89027e-11	4.66015e-11	0.002299	1	0
CLDN8	9073	broad.mit.edu	37	21	31587816	31587816	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr21:31587816G>T	ENST00000399899.1	-	1	575	c.428C>A	c.(427-429)gCc>gAc	p.A143D	CLDN8_ENST00000286809.1_Missense_Mutation_p.A143D	NM_199328.2	NP_955360.1	P56748	CLD8_HUMAN	claudin 8	143					calcium-independent cell-cell adhesion	endoplasmic reticulum|integral to membrane|tight junction	identical protein binding|structural molecule activity	p.A143D(1)		NS(1)|endometrium(2)|large_intestine(6)|lung(6)	15						TCTGATGATGGCATTGGCAAC	0.488000													5	22					1.26484e-09	1.95167e-09	0.003080	1	0
ZNF516	9658	broad.mit.edu	37	18	74154561	74154561	+	Missense_Mutation	SNP	T	T	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr18:74154561T>G	ENST00000443185.2	-	3	767	c.450A>C	c.(448-450)agA>agC	p.R150S	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	150					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R150S(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		GCAGCAGGACTCTGCCGCTGT	0.716000													4	17					0	0	0.000248	0	0
PSMA7	5688	broad.mit.edu	37	20	60715998	60715998	+	Silent	SNP	A	A	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr20:60715998A>T	ENST00000370873.4	-	2	225	c.99T>A	c.(97-99)gtT>gtA	p.V33V	PSMA7_ENST00000370858.3_Silent_p.V33V|PSMA7_ENST00000484488.1_5'UTR|PSMA7_ENST00000370861.1_5'UTR	NM_002792.3	NP_002783.1	O14818	PSA7_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 7	33					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	identical protein binding|threonine-type endopeptidase activity	p.V33V(1)		large_intestine(1)|lung(2)	3	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.28e-07)			CTCGAACACCAACCTTTAATT	0.473000													5	90					0	0	0.001168	0	0
MRPL55	128308	broad.mit.edu	37	1	228294558	228294558	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr1:228294558T>C	ENST00000366731.5	-	6	1191	c.398A>G	c.(397-399)gAg>gGg	p.E133G	MRPL55_ENST00000366740.1_Missense_Mutation_p.E97G|MRPL55_ENST00000366744.1_Missense_Mutation_p.E97G|MRPL55_ENST00000336300.5_Missense_Mutation_p.E97G|MRPL55_ENST00000366746.3_Missense_Mutation_p.E97G|MRPL55_ENST00000295008.4_Missense_Mutation_p.E97G|MRPL55_ENST00000411464.2_Missense_Mutation_p.E97G|MRPL55_ENST00000336520.3_Missense_Mutation_p.E97G|MRPL55_ENST00000366735.1_Missense_Mutation_p.E97G|MRPL55_ENST00000366742.1_Missense_Mutation_p.E97G|MRPL55_ENST00000366738.1_Missense_Mutation_p.E133G|MRPL55_ENST00000366733.1_Missense_Mutation_p.E97G|MRPL55_ENST00000366739.1_Missense_Mutation_p.E97G|MRPL55_ENST00000465397.1_5'UTR|MRPL55_ENST00000366734.1_Missense_Mutation_p.E97G|MRPL55_ENST00000348259.5_Missense_Mutation_p.E97G|MRPL55_ENST00000391867.3_Missense_Mutation_p.E97G|MRPL55_ENST00000366747.3_Missense_Mutation_p.E97G|MRPL55_ENST00000430433.1_Missense_Mutation_p.E133G|MRPL55_ENST00000366741.1_Missense_Mutation_p.E97G|MRPL55_ENST00000366732.1_Missense_Mutation_p.E94G|MRPL55_ENST00000366736.1_Missense_Mutation_p.E97G			Q7Z7F7	RM55_HUMAN	mitochondrial ribosomal protein L55	97					translation	mitochondrial large ribosomal subunit	structural constituent of ribosome	p.E97G(1)|p.E133G(1)		central_nervous_system(1)|lung(4)	5		Prostate(94;0.0405)				GAGCTGAGCCTCACGCTTCCG	0.597000													6	64					0	0	0.001168	0	0
CD163L1	283316	broad.mit.edu	37	12	7528081	7528081	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr12:7528081C>T	ENST00000313599.3	-	11	2854	c.2797G>A	c.(2797-2799)Gat>Aat	p.D933N	CD163L1_ENST00000416109.2_Missense_Mutation_p.D943N|CD163L1_ENST00000396630.1_Missense_Mutation_p.D933N			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	933	SRCR 9.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	p.D933N(1)		breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						ACACGGGCATCTTCTGGGTCC	0.532000													8	39					0	0	0.004482	0	0
EPHB1	2047	broad.mit.edu	37	3	134920438	134920438	+	Silent	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr3:134920438G>T	ENST00000398015.3	+	12	2623	c.2253G>T	c.(2251-2253)ctG>ctT	p.L751L	EPHB1_ENST00000493838.1_Silent_p.L312L	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	751	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	p.L751L(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						GGAACATTCTGGTCAACAGTA	0.552000													29	139					2.12542e-12	3.50571e-12	0.006320	1	0
ZNF335	63925	broad.mit.edu	37	20	44590736	44590736	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr20:44590736C>A	ENST00000322927.2	-	10	1719	c.1619G>T	c.(1618-1620)cGg>cTg	p.R540L	ZNF335_ENST00000426788.1_Missense_Mutation_p.R385L	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	540					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R540L(1)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				AGCGGCGTGCCGAATGACGTC	0.627000													13	65					9.31168e-06	1.24012e-05	0.001855	1	0
THADA	63892	broad.mit.edu	37	2	43819156	43819156	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr2:43819156C>A	ENST00000403856.1	-	4	253	c.106G>T	c.(106-108)Gct>Tct	p.A36S	THADA_ENST00000402360.2_Missense_Mutation_p.A36S|THADA_ENST00000405006.4_Missense_Mutation_p.A36S|THADA_ENST00000415080.2_5'UTR|THADA_ENST00000404790.1_Missense_Mutation_p.A36S|THADA_ENST00000405975.2_Missense_Mutation_p.A36S			Q6YHU6	THADA_HUMAN	thyroid adenoma associated	36							binding	p.A36S(1)		breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				AGCAAAGAAGCTAGATTTTTC	0.328000													3	5					0.00024832	0.000305871	0.000248	1	0
DISP1	84976	broad.mit.edu	37	1	223178676	223178676	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr1:223178676G>T	ENST00000284476.6	+	8	4101	c.3937G>T	c.(3937-3939)Gca>Tca	p.A1313S		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	1313					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity	p.A1313S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		AAACGGCGTGGCACCTCTGAA	0.592000													18	80					6.49762e-13	1.0842e-12	0.006122	1	0
ASIC2	40	broad.mit.edu	37	17	31439050	31439050	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr17:31439050G>T	ENST00000225823.2	-	2	1616	c.744C>A	c.(742-744)aaC>aaA	p.N248K	RP11-40A13.1_ENST00000584688.1_RNA|ASIC2_ENST00000448983.1_5'UTR|ASIC2_ENST00000359872.6_Missense_Mutation_p.N197K	NM_183377.1	NP_899233.1	Q16515	ACCN1_HUMAN	acid-sensing (proton-gated) ion channel 2	197					central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding	p.N248K(1)|p.N197K(1)								Amiloride(DB00594)	CCTCGCCTGAGTTAAACATGT	0.517000													7	27					0.00198382	0.00231917	0.001984	1	0
COLGALT2	23127	broad.mit.edu	37	1	183909713	183909713	+	Splice_Site	SNP	A	A	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr1:183909713A>T	ENST00000361927.4	-	11	1976		c.e11+1		COLGALT2_ENST00000367521.1_Splice_Site|COLGALT2_ENST00000367520.3_Splice_Site|COLGALT2_ENST00000486375.1_Splice_Site|COLGALT2_ENST00000546159.1_Splice_Site	NM_015101.2	NP_055916.1			collagen beta(1-O)galactosyltransferase 2									p.?(1)									AGGGAGACTCACACGGGATGC	0.483000													8	87					0	0	0.004482	0	0
DEFB127	140850	broad.mit.edu	37	20	138186	138186	+	Translation_Start_Site	SNP	A	A	C			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr20:138186A>C	ENST00000382388.3	+	1	76	c.1A>C	c.(1-3)Atg>Ctg	p.M1L		NM_139074.3	NP_620713.1	Q9H1M4	DB127_HUMAN	defensin, beta 127	1					defense response to bacterium|innate immune response	extracellular region		p.M1L(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)	9		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.122)			AAGCCTGGCCATGGGGCTCTT	0.468000													3	89					0	0	0.004672	0	0
DNAH2	146754	broad.mit.edu	37	17	7662780	7662780	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr17:7662780G>T	ENST00000572933.1	+	16	3949	c.2489G>T	c.(2488-2490)cGc>cTc	p.R830L	DNAH2_ENST00000389173.2_Missense_Mutation_p.R830L			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	830	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R830L(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CGGCTGGACCGCATGATGGAG	0.527000													14	55					1.02788e-11	1.67615e-11	0.004990	1	0
MSX1	4487	broad.mit.edu	37	4	4864535	4864535	+	Missense_Mutation	SNP	C	C	A	rs104893850		TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr4:4864535C>A	ENST00000382723.4	+	2	811	c.577C>A	c.(577-579)Cag>Aag	p.Q193K	MSX1_ENST00000468421.1_3'UTR	NM_002448.3	NP_002439.2	P28360	MSX1_HUMAN	msh homeobox 1	187					apoptotic nuclear change|face morphogenesis|negative regulation of cell growth|odontogenesis of dentine-containing tooth|positive regulation of apoptosis|protein localization to nucleus|protein stabilization	nucleus	p53 binding|sequence-specific DNA binding transcription factor activity	p.Q193K(1)		endometrium(3)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	11				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CAAGTTCCGCCAGAAGCAGTA	0.652000													7	70					8.12818e-05	0.000102315	0.001984	1	0
GPNMB	10457	broad.mit.edu	37	7	23299726	23299726	+	Silent	SNP	C	C	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr7:23299726C>T	ENST00000258733.4	+	5	964	c.669C>T	c.(667-669)atC>atT	p.I223I	GPNMB_ENST00000453162.2_Silent_p.I165I|GPNMB_ENST00000539136.1_Silent_p.I124I|GPNMB_ENST00000381990.2_Silent_p.I223I			Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	223					negative regulation of cell proliferation	melanosome		p.I223I(2)		breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			ATGTTCCCATCGCACAAGTGA	0.463000													14	124					0	0	0.003163	0	0
RELN	5649	broad.mit.edu	37	7	103338439	103338439	+	Missense_Mutation	SNP	A	A	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr7:103338439A>T	ENST00000424685.2	-	10	1163	c.1004T>A	c.(1003-1005)gTa>gAa	p.V335E	RELN_ENST00000428762.1_Missense_Mutation_p.V335E|RELN_ENST00000343529.5_Missense_Mutation_p.V335E			P78509	RELN_HUMAN	reelin	335					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	p.V335E(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CACTTCACCTACACGAAGATT	0.468000													12	141					0	0	0.001368	0	0
CPEB1	64506	broad.mit.edu	37	15	83221230	83221230	+	Splice_Site	SNP	C	C	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr15:83221230C>G	ENST00000563800.1	-	8	3006	c.1281_splice	c.e8+1	p.E427_splice	CPEB1_ENST00000568757.1_Splice_Site_p.E325_splice|CPEB1_ENST00000564522.1_Splice_Site_p.E325_splice|CPEB1_ENST00000450751.2_Splice_Site_p.E325_splice|CPEB1_ENST00000398592.2_Splice_Site_p.E174_splice|CPEB1_ENST00000261723.6_Splice_Site_p.E403_splice|CPEB1_ENST00000562019.1_Splice_Site_p.E405_splice|RP11-152F13.10_ENST00000562833.1_Splice_Site_p.R135_splice|CPEB1_ENST00000423133.2_Splice_Site_p.E325_splice|RP11-379H8.1_ENST00000568285.1_Intron|CPEB1_ENST00000398591.2_Splice_Site_p.E330_splice|CPEB1_ENST00000568128.1_Splice_Site_p.E400_splice			Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding protein 1	405	Necessary for stress granule assembly and correct localization in dcp1 bodies.				mRNA processing|regulation of translation	cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane	nucleotide binding|RNA binding	p.E400D(1)|p.E330D(1)		breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28			BRCA - Breast invasive adenocarcinoma(143;0.229)			GCTAACTCACCTCCTTGCAGC	0.517000													6	33					0	0	0.001168	0	0
SLC29A4	222962	broad.mit.edu	37	7	5340083	5340083	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr7:5340083G>A	ENST00000396872.2	+	10	1401	c.1240G>A	c.(1240-1242)Ggc>Agc	p.G414S	SLC29A4_ENST00000297195.4_Missense_Mutation_p.G414S|SLC29A4_ENST00000406453.3_Missense_Mutation_p.G400S|SLC29A4_ENST00000439491.2_3'UTR	NM_001040661.1|NM_153247.2	NP_001035751.1|NP_694979.2	Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4	414					nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity	p.G414S(1)		breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)		GGACTGGCGGGGCACCCACCT	0.711000													13	58					0	0	0.002450	0	0
EPHX4	253152	broad.mit.edu	37	1	92511125	92511125	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr1:92511125G>T	ENST00000370383.4	+	4	610	c.512G>T	c.(511-513)gGg>gTg	p.G171V		NM_173567.4	NP_775838.3	Q8IUS5	EPHX4_HUMAN	epoxide hydrolase 4	171						integral to membrane	hydrolase activity	p.G171L(1)		central_nervous_system(1)|large_intestine(3)|lung(8)	12						CATGACTGGGGGGGCATGATT	0.393000													20	125					8.00594e-06	1.07119e-05	0.007413	1	0
NUP188	23511	broad.mit.edu	37	9	131735483	131735483	+	Silent	SNP	T	T	C			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr9:131735483T>C	ENST00000372577.2	+	12	1179	c.1158T>C	c.(1156-1158)tcT>tcC	p.S386S		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	386					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	p.S386S(1)		breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						GACTGCTCTCTTTCGTTCTGA	0.502000													4	63					0	0	0.000602	0	0
PRSS1	5644	broad.mit.edu	37	7	142458475	142458475	+	Missense_Mutation	SNP	A	A	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr7:142458475A>G	ENST00000486171.1	+	2	127	c.110A>G	c.(109-111)tAc>tGc	p.Y37C	PRSS1_ENST00000311737.7_Missense_Mutation_p.Y37C			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	37	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity	p.Y37C(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			TCTGTCCCCTACCAGGTGTCC	0.537000													16	135					0	0	0.003163	0	0
AXDND1	126859	broad.mit.edu	37	1	179497545	179497545	+	Missense_Mutation	SNP	A	A	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr1:179497545A>T	ENST00000367618.3	+	23	3081	c.2694A>T	c.(2692-2694)gaA>gaT	p.E898D		NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	898	Glu-rich.							p.E898D(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						CTCTATTTGAAACAGATGTGT	0.348000													16	26					0	0	0.004990	0	0
OR5J2	282775	broad.mit.edu	37	11	55944982	55944982	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr11:55944982G>T	ENST00000312298.1	+	1	889	c.889G>T	c.(889-891)Gta>Tta	p.V297L		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	297					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V297L(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					AAACAAGGACGTAAAGGAGGC	0.383000													10	34					3.86212e-05	4.94834e-05	0.008291	1	0
OR8U1	219417	broad.mit.edu	37	11	56143178	56143178	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr11:56143178C>A	ENST00000302270.1	+	1	79	c.79C>A	c.(79-81)Ctc>Atc	p.L27I		NM_001005204.1	NP_001005204.1			olfactory receptor, family 8, subfamily U, member 1									p.L27I(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1)	39	Esophageal squamous(21;0.00448)					GAAGATGCCCCTCTTTGTGCT	0.453000													25	126					7.01153e-11	1.11795e-10	0.007291	1	0
MGEA5	10724	broad.mit.edu	37	10	103547259	103547259	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr10:103547259C>T	ENST00000361464.3	-	15	2871	c.2476G>A	c.(2476-2478)Gaa>Aaa	p.E826K	MGEA5_ENST00000482611.1_5'UTR|MGEA5_ENST00000357797.5_Missense_Mutation_p.E759K|MGEA5_ENST00000439817.1_Missense_Mutation_p.E773K	NM_012215.3	NP_036347.1	O60502	NCOAT_HUMAN	meningioma expressed antigen 5 (hyaluronidase)	826	Histone acetyltransferase activity (By similarity).				glycoprotein catabolic process	cytoplasm|nucleus	histone acetyltransferase activity|hyalurononglucosaminidase activity	p.E826K(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		TCCTGTTCTTCATGGAAACTC	0.363000													6	90					0	0	0.001168	0	0
CRNN	49860	broad.mit.edu	37	1	152382335	152382335	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr1:152382335G>T	ENST00000271835.3	-	3	1285	c.1223C>A	c.(1222-1224)gCa>gAa	p.A408E	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	408					cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding	p.A408E(1)		breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCAGTGCTTGCCCCAGTCTG	0.607000													37	92					9.17885e-22	1.64646e-21	0.003271	1	0
BPTF	2186	broad.mit.edu	37	17	65882262	65882262	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr17:65882262G>A	ENST00000321892.4	+	6	2133	c.2072G>A	c.(2071-2073)tGt>tAt	p.C691Y	BPTF_ENST00000306378.6_Intron|BPTF_ENST00000424123.3_Missense_Mutation_p.C552Y|BPTF_ENST00000335221.5_Missense_Mutation_p.C691Y			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	691	Interaction with KEAP1.				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding	p.C691Y(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			AACAAGACATGTGAGAGCAGT	0.363000													14	116					0	0	0.002450	0	0
DNA2	1763	broad.mit.edu	37	10	70231550	70231550	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr10:70231550C>G	ENST00000399180.2	-	1	329	c.330G>C	c.(328-330)gaG>gaC	p.E110D	DNA2_ENST00000399179.2_Missense_Mutation_p.E24D|DNA2_ENST00000358410.3_Missense_Mutation_p.E24D			P51530	DNA2L_HUMAN	DNA replication helicase/nuclease 2	24					base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrial nucleoid|nucleoplasm	5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base	p.E24D(1)|p.E110D(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						CCGCTCACAGCTCCGCCGGCA	0.632000													4	29					0	0	0.000248	0	0
ITGB3	3690	broad.mit.edu	37	17	45363775	45363775	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr17:45363775C>A	ENST00000559488.1	+	5	780	c.764C>A	c.(763-765)gCt>gAt	p.A255D	ITGB3_ENST00000435993.2_Missense_Mutation_p.A208D|ITGB3_ENST00000560629.1_Silent_p.G243G|ITGB3_ENST00000571680.1_Missense_Mutation_p.A255D	NM_000212.2	NP_000203.2	P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	255	VWFA.				activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding	p.A255D(1)|p.A208D(1)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Tirofiban(DB00775)	aTCATGCAGGCTACAGTCTGT	0.522000													12	54					2.80697e-09	4.27375e-09	0.000978	1	0
MYLIP	29116	broad.mit.edu	37	6	16145361	16145361	+	Nonsense_Mutation	SNP	C	C	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr6:16145361C>G	ENST00000349606.4	+	5	1022	c.518C>G	c.(517-519)tCa>tGa	p.S173*	MYLIP_ENST00000356840.3_Nonsense_Mutation_p.S354*			Q8WY64	MYLIP_HUMAN	myosin regulatory light chain interacting protein	354	FERM.				cellular component movement|nervous system development	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.S354*(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.241)			CTGAAGTCCTCAGAAAGCAGC	0.577000													17	95					0	0	0.004990	0	0
PCLO	27445	broad.mit.edu	37	7	82538271	82538271	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr7:82538271C>A	ENST00000423517.2	-	8	13696	c.13359G>T	c.(13357-13359)ttG>ttT	p.L4453F	PCLO_ENST00000333891.8_Missense_Mutation_p.L4453F	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4384	PDZ.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.L4453F(2)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GTCCATTTTCCAAACGAGACT	0.443000													13	75					1.36491e-13	2.31109e-13	0.001855	1	0
LUC7L	55692	broad.mit.edu	37	16	239215	239215	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr16:239215C>G	ENST00000293872.8	-	10	1208	c.1098G>C	c.(1096-1098)aaG>aaC	p.K366N	LUC7L_ENST00000397783.1_3'UTR|LUC7L_ENST00000337351.4_3'UTR	NM_201412.1	NP_958815.1	Q9NQ29	LUC7L_HUMAN	LUC7-like (S. cerevisiae)	366							metal ion binding	p.K366N(1)		NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	11		all_cancers(16;1.1e-06)|all_epithelial(16;2.71e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.0138)|all_lung(18;0.0306)				CGCCGGCCTCCTTCTCTTCTG	0.552000													14	199					0	0	0.006122	0	0
TMEM132D	121256	broad.mit.edu	37	12	129559047	129559047	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr12:129559047C>A	ENST00000422113.2	-	9	2999	c.2673G>T	c.(2671-2673)caG>caT	p.Q891H	TMEM132D_ENST00000389441.4_Missense_Mutation_p.Q429H	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	891						integral to membrane		p.Q891H(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GGAGGTCCACCTGGGCTGGGA	0.527000													9	62					0.00621372	0.00714764	0.006214	1	0
HEG1	57493	broad.mit.edu	37	3	124739887	124739887	+	Missense_Mutation	SNP	A	A	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr3:124739887A>T	ENST00000311127.4	-	4	1068	c.1001T>A	c.(1000-1002)gTg>gAg	p.V334E		NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	334						extracellular region|integral to membrane	calcium ion binding	p.V334E(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						ATCAGTGAACACGGTGGCAAC	0.512000													4	18					0	0	0.000248	0	0
KCNS2	3788	broad.mit.edu	37	8	99440470	99440470	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr8:99440470G>A	ENST00000287042.4	+	2	613	c.263G>A	c.(262-264)gGc>gAc	p.G88D	KCNS2_ENST00000521839.1_Missense_Mutation_p.G88D	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	88						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.G88D(1)		autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			TATCACACCGGCAAGCTTCAC	0.542000													4	105					0	0	0.000248	0	0
IGHV1-8	28472	broad.mit.edu	37	14	106539483	106539483	+	RNA	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr14:106539483C>A	ENST00000390599.2	-	0	94																											TAGCTGCTGCCACCAAGAAGA	0.512000													31	89					6.70999e-13	1.11639e-12	0.004289	1	0
PKD1	5310	broad.mit.edu	37	16	2147731	2147731	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr16:2147731C>G	ENST00000262304.4	-	32	10426	c.10218G>C	c.(10216-10218)aaG>aaC	p.K3406N	PKD1_ENST00000423118.1_Missense_Mutation_p.K3405N	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	3406					calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	p.K3406N(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GAACCCACCTCTTAGAATCAT	0.587000													6	128					0	0	0.001984	0	0
ADAMTS1	9510	broad.mit.edu	37	21	28212681	28212681	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr21:28212681G>C	ENST00000284984.2	-	5	2033	c.1579C>G	c.(1579-1581)Ccg>Gcg	p.P527A		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	527	Disintegrin.				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding	p.P527A(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		TCCGCCCACGGGAAGTGTTTG	0.532000													4	45					0	0	0.000248	0	0
PGLYRP3	114771	broad.mit.edu	37	1	153270495	153270495	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr1:153270495G>T	ENST00000290722.1	-	7	1015	c.963C>A	c.(961-963)aaC>aaA	p.N321K		NM_052891.1	NP_443123.1	Q96LB9	PGRP3_HUMAN	peptidoglycan recognition protein 3	321					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	p.N321K(1)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	28	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGGACAGGATGTTGACCACGT	0.597000													57	237					4.96213e-28	8.98506e-28	0.003610	1	0
OR3A4P	390756	broad.mit.edu	37	17	3214440	3214440	+	RNA	SNP	T	T	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr17:3214440T>G	ENST00000573491.1	-	0	359				OR3A4P_ENST00000323164.4_RNA														p.I279S(1)									GGCATTGGCATCCTCAACACT	0.567000													4	147					0	0	0.000248	0	0
ADAM23	8745	broad.mit.edu	37	2	207435496	207435496	+	Nonsense_Mutation	SNP	C	C	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr2:207435496C>G	ENST00000264377.3	+	16	1855	c.1527C>G	c.(1525-1527)taC>taG	p.Y509*	ADAM23_ENST00000374415.3_Nonsense_Mutation_p.Y509*|ADAM23_ENST00000374416.1_Nonsense_Mutation_p.Y509*	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	509	Disintegrin.				cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	p.Y509*(2)		NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		GAAATGGATACGTGGAAGCTG	0.413000													8	54					0	0	0.006214	0	0
HRNR	388697	broad.mit.edu	37	1	152193051	152193051	+	Nonsense_Mutation	SNP	C	C	A	rs140445785		TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr1:152193051C>A	ENST00000368801.2	-	3	1129	c.1054G>T	c.(1054-1056)Gag>Tag	p.E352*	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	352					keratinization		calcium ion binding|protein binding	p.E352*(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGCCAGACTCATGTTGCCCA	0.562000													37	180					1.96642e-18	3.48372e-18	0.006999	1	0
PRKRIR	5612	broad.mit.edu	37	11	76062549	76062549	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr11:76062549G>C	ENST00000260045.3	-	5	1750	c.1645C>G	c.(1645-1647)Caa>Gaa	p.Q549E		NM_004705.2	NP_004696.2	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)	549					negative regulation of cell proliferation|response to stress|signal transduction		DNA binding|metal ion binding|protein dimerization activity	p.Q549E(1)		cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						AGTTTCATTTGAATATCAAGT	0.403000													3	42					0	0	0.000248	0	0
COL5A1	1289	broad.mit.edu	37	9	137716553	137716553	+	Silent	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr9:137716553G>T	ENST00000371817.3	+	62	5220	c.4806G>T	c.(4804-4806)gtG>gtT	p.V1602V		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1602	Nonhelical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	p.D1603Y(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		AGAACTACGTGGACTACGCGG	0.622000													6	44					0.000157383	0.000195114	0.003080	1	0
RANBP2	5903	broad.mit.edu	37	2	109381205	109381205	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr2:109381205G>T	ENST00000283195.6	+	20	4336	c.4210G>T	c.(4210-4212)Gtt>Ttt	p.V1404F		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1404					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	p.V1404F(2)	RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						CCCAGAGAATGTTCAAGATCG	0.398000													9	76					0.000978159	0.00116972	0.000978	1	0
PSMG1	8624	broad.mit.edu	37	21	40550484	40550484	+	Silent	SNP	G	G	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr21:40550484G>A	ENST00000331573.3	-	5	1011	c.546C>T	c.(544-546)ggC>ggT	p.G182G	PSMG1_ENST00000380900.2_Silent_p.G161G	NM_001261824.1|NM_003720.3	NP_001248753.1|NP_003711.1	O95456	PSMG1_HUMAN	proteasome (prosome, macropain) assembly chaperone 1	182					proteasome assembly	endoplasmic reticulum	protein binding	p.G182G(1)		autonomic_ganglia(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	8		Prostate(19;8.44e-08)				AAGGAAGGCTGCCGGTGGATT	0.423000													13	116					0	0	0.002450	0	0
IGFN1	91156	broad.mit.edu	37	1	201182572	201182572	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr1:201182572G>T	ENST00000335211.4	+	12	8681	c.8551G>T	c.(8551-8553)Ggg>Tgg	p.G2851W	IGFN1_ENST00000295591.8_Missense_Mutation_p.G11W|IGFN1_ENST00000451870.2_Intron	NM_001164586.1	NP_001158058.1			immunoglobulin-like and fibronectin type III domain containing 1									p.G11W(1)|p.G2851W(1)		autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						AGAGAACTGGGGGTGCCTGGA	0.597000													5	45					0.000602214	0.000729264	0.000602	1	0
OR4C13	283092	broad.mit.edu	37	11	49974366	49974366	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr11:49974366C>A	ENST00000555099.1	+	1	424	c.392C>A	c.(391-393)aCc>aAc	p.T131N		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T131N(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						TTGCACTATACCACCGTCATG	0.458000													13	83					0.00010058	0.00012633	0.001368	1	0
NKD1	85407	broad.mit.edu	37	16	50667195	50667195	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr16:50667195C>G	ENST00000268459.3	+	10	1140	c.916C>G	c.(916-918)Cca>Gca	p.P306A		NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)	306					Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding	p.P306A(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		CATCCACATCCCACACCGAAA	0.642000													5	118					0	0	0.001168	0	0
OR52E2	119678	broad.mit.edu	37	11	5080148	5080148	+	Missense_Mutation	SNP	T	T	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr11:5080148T>A	ENST00000321522.2	-	1	709	c.710A>T	c.(709-711)aAg>aTg	p.K237M		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	237					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K237M(1)		endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		GCTGAGGGACTTGAGTCGGGC	0.453000													16	47					0	0	0.004007	0	0
CPA1	1357	broad.mit.edu	37	7	130027667	130027667	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr7:130027667C>G	ENST00000011292.3	+	10	1225	c.1075C>G	c.(1075-1077)Caa>Gaa	p.Q359E	CPA1_ENST00000484324.1_Missense_Mutation_p.Q271E	NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN	carboxypeptidase A1 (pancreatic)	359					proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	p.Q359E(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					TGCCCCAGATCAAGCCAGTGG	0.527000													26	397					0	0	0.004656	0	0
ESF1	51575	broad.mit.edu	37	20	13756763	13756763	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr20:13756763C>A	ENST00000202816.1	-	3	898	c.791G>T	c.(790-792)aGa>aTa	p.R264I		NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	264					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm		p.R264I(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						aCCTGAAGCTCTACCAACACT	0.408000													18	114					2.48551e-13	4.19612e-13	0.004990	1	0
CXorf27	25763	broad.mit.edu	37	X	37850387	37850387	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chrX:37850387G>A	ENST00000341016.3	+	1	318	c.295G>A	c.(295-297)Gag>Aag	p.E99K	TM4SF2_ENST00000465127.1_Intron	NM_012274.1	NP_036406.1	O75409	HYPM_HUMAN	chromosome X open reading frame 27	99							DNA binding	p.E99K(1)		central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)	8						CCACAGCGCTGAGAGTGATGT	0.527000													6	29					0	0	0.001168	0	0
CAPSL	133690	broad.mit.edu	37	5	35910605	35910605	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr5:35910605C>A	ENST00000397367.2	-	3	304	c.178G>T	c.(178-180)Gat>Tat	p.D60Y	CAPSL_ENST00000397366.1_Missense_Mutation_p.D60Y|CAPSL_ENST00000514524.1_Missense_Mutation_p.D60Y	NM_144647.3	NP_653248.3	Q8WWF8	CAPSL_HUMAN	calcyphosine-like	60	EF-hand 1.					cytoplasm	calcium ion binding	p.D60Y(2)		central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			TCTTTAAAATCAAGGGTTCGA	0.323000													6	61					2.7689e-08	4.07525e-08	0.001984	1	0
ZNF658	26149	broad.mit.edu	37	9	40774879	40774879	+	Silent	SNP	T	T	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr9:40774879T>A	ENST00000602553.1	-	5	690	c.396A>T	c.(394-396)tcA>tcT	p.S132S	ZNF658_ENST00000377626.3_Silent_p.S132S|ZNF658_ENST00000441795.1_Silent_p.S130S			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	132					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S132S(1)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		ATATTTTTTCTGAAAGCTCTG	0.318000													3	56					0	0	0.000602	0	0
TGFB1	7040	broad.mit.edu	37	19	41854260	41854260	+	Silent	SNP	C	C	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr19:41854260C>T	ENST00000221930.5	-	2	1322	c.456G>A	c.(454-456)cgG>cgA	p.R152R		NM_000660.4	NP_000651.3	P01137	TGFB1_HUMAN	transforming growth factor, beta 1	152					active induction of host immune response by virus|ATP biosynthetic process|cell cycle arrest|cell growth|cell-cell junction organization|chondrocyte differentiation|connective tissue replacement involved in inflammatory response wound healing|epidermal growth factor receptor signaling pathway|evasion of host defenses by virus|hemopoietic progenitor cell differentiation|induction of apoptosis|lymph node development|mitotic cell cycle G1/S transition checkpoint|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of cell-cell adhesion|negative regulation of DNA replication|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|negative regulation of macrophage cytokine production|negative regulation of mitotic cell cycle|negative regulation of protein phosphorylation|ossification involved in bone remodeling|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of blood vessel endothelial cell migration|positive regulation of bone mineralization|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of collagen biosynthetic process|positive regulation of epithelial to mesenchymal transition|positive regulation of fibroblast migration|positive regulation of interleukin-17 production|positive regulation of isotype switching to IgA isotypes|positive regulation of MAP kinase activity|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of protein dephosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein secretion|positive regulation of SMAD protein import into nucleus|protein export from nucleus|protein import into nucleus, translocation|receptor catabolic process|regulation of DNA binding|regulation of striated muscle tissue development|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|response to estradiol stimulus|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway|viral infectious cycle	extracellular space|Golgi lumen|nucleus|platelet alpha granule lumen|proteinaceous extracellular matrix	growth factor activity|type II transforming growth factor beta receptor binding	p.R152R(1)		endometrium(1)|large_intestine(2)|lung(4)|skin(1)	8					Hyaluronidase(DB00070)	GCAGCTCTGCCCGGGAGAGCA	0.522000													15	169					0	0	0.003163	0	0
KSR1	8844	broad.mit.edu	37	17	25924462	25924462	+	Splice_Site	SNP	G	G	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr17:25924462G>A	ENST00000398988.3	+	11	1502	c.1057_splice	c.e11+1	p.A353_splice	KSR1_ENST00000319524.6_Splice_Site_p.A490_splice|KSR1_ENST00000509603.2_Splice_Site_p.A490_splice|KSR1_ENST00000581975.1_3'UTR|KSR1_ENST00000268763.6_Splice_Site_p.A353_splice	NM_014238.1	NP_055053.1	Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	488					Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.A490T(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		CAACTTCCCAGGTACCACATC	0.597000													3	13					0	0	0.004672	0	0
PCDH11X	27328	broad.mit.edu	37	X	91873602	91873602	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chrX:91873602C>A	ENST00000373094.1	+	7	4552	c.3707C>A	c.(3706-3708)cCa>cAa	p.P1236Q	PCDH11X_ENST00000373097.1_Missense_Mutation_p.P1226Q|PCDH11X_ENST00000373088.1_Missense_Mutation_p.P1199Q|PCDH11X_ENST00000406881.1_Missense_Mutation_p.P1228Q|PCDH11X_ENST00000298274.8_Missense_Mutation_p.P1199Q|PCDH11X_ENST00000361655.2_Missense_Mutation_p.P1218Q|PCDH11X_ENST00000504220.1_3'UTR	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1236					homophilic cell adhesion	integral to plasma membrane	calcium ion binding	p.P1236Q(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CACAGCCCACCATCAGCACAG	0.587000													22	129					7.41877e-09	1.11768e-08	0.001882	1	0
PDE6B	5158	broad.mit.edu	37	4	619540	619540	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr4:619540C>A	ENST00000255622.6	+	1	168	c.125C>A	c.(124-126)cCg>cAg	p.P42Q	PDE6B_ENST00000496514.1_Missense_Mutation_p.P42Q	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763.1	P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	42					cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	p.P42Q(1)		NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						GGGTGCCCGCCGGACTGCGAC	0.642000													6	53					0.00116845	0.00138002	0.001168	1	0
ENKUR	219670	broad.mit.edu	37	10	25284575	25284575	+	Splice_Site	SNP	C	C	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr10:25284575C>G	ENST00000331161.4	-	3	666	c.447_splice	c.e3+1	p.K149_splice	ENKUR_ENST00000376363.1_Splice_Site_p.K149_splice	NM_145010.3	NP_659447.1	Q8TC29	ENKUR_HUMAN	enkurin, TRPC channel interacting protein	149						cilium|flagellum	calmodulin binding|SH3 domain binding	p.K149N(1)		endometrium(2)|large_intestine(4)|lung(3)|skin(1)	10						ACAAGGCTACCTTTTTATTGA	0.338000													33	155					0	0	0.002096	0	0
RPGRIP1	57096	broad.mit.edu	37	14	21795868	21795868	+	Nonsense_Mutation	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr14:21795868G>T	ENST00000206660.6	+	17	2797	c.2797G>T	c.(2797-2799)Gag>Tag	p.E933*	RPGRIP1_ENST00000556336.1_Nonsense_Mutation_p.E590*|RPGRIP1_ENST00000557771.1_Nonsense_Mutation_p.E895*|RPGRIP1_ENST00000400017.2_Nonsense_Mutation_p.E933*|RPGRIP1_ENST00000382933.4_Nonsense_Mutation_p.E259*|RPGRIP1_ENST00000307974.4_Nonsense_Mutation_p.E292*			Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	933					response to stimulus|visual perception	cilium		p.E549*(1)|p.E933*(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		CATACCCCCTGAGAGCTTCCT	0.458000													6	57					3.59834e-05	4.64145e-05	0.001168	1	0
CAPRIN2	65981	broad.mit.edu	37	12	30881654	30881654	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr12:30881654C>A	ENST00000251071.5	-	8	2460	c.1710G>T	c.(1708-1710)tgG>tgT	p.W570C	CAPRIN2_ENST00000308433.5_Missense_Mutation_p.W237C|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.W570C|CAPRIN2_ENST00000538387.1_5'UTR|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.W570C|CAPRIN2_ENST00000395805.2_Missense_Mutation_p.W570C	NM_001002259.1|NM_032156.3	NP_001002259.1|NP_115532.3	Q6IMN6	CAPR2_HUMAN	caprin family member 2	570					negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding	p.W570F(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					TAGCTACTCCCCAGGACTTTG	0.438000													13	85					2.27111e-07	3.22678e-07	0.001368	1	0
SETD2	29072	broad.mit.edu	37	3	47162939	47162939	+	Nonsense_Mutation	SNP	T	T	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr3:47162939T>A	ENST00000409792.3	-	3	3229	c.3187A>T	c.(3187-3189)Aga>Tga	p.R1063*		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1063					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	p.R1063*(1)|p.R560*(1)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		AGACGGTTTCTTGGAATACTG	0.393000			"""N, F, S, Mis"""		clear cell renal carcinoma								12	84					0	0	0.001368	0	0
GRIN2B	2904	broad.mit.edu	37	12	13720066	13720066	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr12:13720066G>T	ENST00000279593.3	-	12	2700	c.2491C>A	c.(2491-2493)Ctc>Atc	p.L831I		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	831					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.L831I(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	ATGAGGCTGAGAGCCATGGCC	0.512000													21	66					1.55795e-14	2.66944e-14	0.001882	1	0
GCG	2641	broad.mit.edu	37	2	163004009	163004009	+	Silent	SNP	G	G	C			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr2:163004009G>C	ENST00000418842.2	-	3	362	c.108C>G	c.(106-108)tcC>tcG	p.S36S	GCG_ENST00000375497.3_Silent_p.S36S	NM_002054.4	NP_002045.1	P01275	GLUC_HUMAN	glucagon	36					cell proliferation|cellular response to glucagon stimulus|energy reserve metabolic process|feeding behavior|regulation of insulin secretion	plasma membrane|soluble fraction	hormone activity	p.S36S(2)		breast(1)|central_nervous_system(1)|large_intestine(3)|lung(9)	14					Exenatide(DB01276)|Phentolamine(DB00692)	GGTCTGCCTGGGAAGCTGAGA	0.463000													19	246					0	0	0.008871	0	0
OR2A2	442361	broad.mit.edu	37	7	143807463	143807463	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr7:143807463C>G	ENST00000408979.2	+	1	857	c.788C>G	c.(787-789)tCt>tGt	p.S263C		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	263					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S263C(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					GTCCCAGACTCTAATCAACGA	0.507000													26	192					0	0	0.002096	0	0
KIAA0319	9856	broad.mit.edu	37	6	24582479	24582479	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr6:24582479G>C	ENST00000535378.1	-	7	1804	c.1162C>G	c.(1162-1164)Caa>Gaa	p.Q388E	KIAA0319_ENST00000378214.3_Missense_Mutation_p.Q397E|KIAA0319_ENST00000543707.1_Missense_Mutation_p.Q397E|KIAA0319_ENST00000537886.1_Missense_Mutation_p.Q397E|KIAA0319_ENST00000430948.2_Missense_Mutation_p.Q352E	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN	KIAA0319	397	PKD 1.				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding	p.Q397E(1)		breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						TTACTTACTTGAGAGAGGTTA	0.413000													9	158					0	0	0.004482	0	0
WNK4	65266	broad.mit.edu	37	17	40939540	40939540	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr17:40939540C>G	ENST00000246914.5	+	7	1742	c.1721C>G	c.(1720-1722)gCc>gGc	p.A574G	WNK4_ENST00000587705.1_3'UTR	NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	574					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity	p.A562G(1)|p.A574G(1)		NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		TTCCGCCACGCCAGCTACTCA	0.622000													18	142					0	0	0.008871	0	0
NEK10	152110	broad.mit.edu	37	3	27204002	27204002	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr3:27204002C>A	ENST00000429845.2	-	32	3322	c.2960G>T	c.(2959-2961)tGg>tTg	p.W987L	NEK10_ENST00000498182.1_Intron|NEK10_ENST00000383771.4_Missense_Mutation_p.W299L|NEK10_ENST00000295720.6_Missense_Mutation_p.W299L|NEK10_ENST00000357467.2_Missense_Mutation_p.W384L|NEK10_ENST00000383770.3_Intron			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	987							ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.W987L(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						ATGGGACTGCCACCCTGTCAC	0.463000													5	74					1.23904e-05	1.63121e-05	0.000602	1	0
MYO18B	84700	broad.mit.edu	37	22	26423257	26423257	+	Silent	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr22:26423257G>T	ENST00000335473.7	+	43	7567	c.7317G>T	c.(7315-7317)gtG>gtT	p.V2439V	MYO18B_ENST00000536101.1_Silent_p.V2439V|MYO18B_ENST00000407587.2_Silent_p.V2440V	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2439						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	p.V2440V(1)		NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						AGACCAAAGTGGACTTCGATG	0.562000													13	95					3.41278e-10	5.3232e-10	0.004990	1	0
CDH23	64072	broad.mit.edu	37	10	73548714	73548714	+	Silent	SNP	G	G	C			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr10:73548714G>C	ENST00000224721.6	+	44	5858	c.5853G>C	c.(5851-5853)ctG>ctC	p.L1951L		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1946	Cadherin 18.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	p.L1951L(1)		NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						ACTTGCTTCTGATCTTCCTTT	0.557000													9	40					0	0	0.004482	0	0
SNCA	6622	broad.mit.edu	37	4	90743475	90743475	+	Silent	SNP	T	T	C			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr4:90743475T>C	ENST00000394989.2	-	3	448	c.186A>G	c.(184-186)gcA>gcG	p.A62A	SNCA_ENST00000394991.3_Silent_p.A76A|SNCA_ENST00000420646.2_Silent_p.A76A|SNCA_ENST00000508895.1_Silent_p.A76A|SNCA_ENST00000505199.1_Silent_p.A62A|SNCA_ENST00000502987.1_Silent_p.A76A|SNCA_ENST00000506244.1_Silent_p.A76A|SNCA_ENST00000394986.1_Silent_p.A76A|SNCA_ENST00000345009.4_Silent_p.A76A|SNCA_ENST00000336904.3_Silent_p.A76A			P37840	SYUA_HUMAN	synuclein, alpha (non A4 component of amyloid precursor)	76	4 X 11 AA tandem repeats of [EGS]-K-T-K- [EQ]-[GQ]-V-X(4).				activation of caspase activity|anti-apoptosis|negative regulation of dopamine uptake|negative regulation of exocytosis|negative regulation of histone acetylation|negative regulation of microtubule polymerization|negative regulation of monooxygenase activity|negative regulation of norepinephrine uptake|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of serotonin uptake|negative regulation of thrombin receptor signaling pathway|negative regulation of transporter activity|positive regulation of endocytosis|positive regulation of inositol phosphate biosynthetic process|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein serine/threonine kinase activity|positive regulation of receptor recycling|positive regulation of release of sequestered calcium ion into cytosol|receptor internalization|regulation of phospholipase activity|response to interferon-gamma|response to interleukin-1|response to iron(II) ion|response to lipopolysaccharide|response to magnesium ion|synaptic vesicle endocytosis	actin cytoskeleton|axon|cell cortex|cell junction|cytosol|fibril|growth cone|nucleus|synapse	alpha-tubulin binding|calcium ion binding|caspase inhibitor activity|dynein binding|ferrous iron binding|histone binding|Hsp70 protein binding|kinesin binding|magnesium ion binding|phosphoprotein binding|tau protein binding|zinc ion binding	p.A76G(1)		kidney(1)|large_intestine(2)|lung(4)|ovary(1)	8		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.42e-05)	Melatonin(DB01065)	TCTGGGCTACTGCTGTCACAC	0.502000													3	53					0	0	0.000248	0	0
ARMC3	219681	broad.mit.edu	37	10	23270395	23270395	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr10:23270395G>T	ENST00000298032.5	+	9	1127	c.1043G>T	c.(1042-1044)gGc>gTc	p.G348V	ARMC3_ENST00000409983.3_Missense_Mutation_p.G348V|ARMC3_ENST00000409049.3_Missense_Mutation_p.G348V|ARMC3_ENST00000376528.4_Missense_Mutation_p.G85V	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	348							binding	p.G348V(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GAGAATTCAGGCAGCAAAGAT	0.373000													11	64					9.31168e-06	1.24012e-05	0.001855	1	0
PLEKHA7	144100	broad.mit.edu	37	11	16838765	16838765	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr11:16838765C>A	ENST00000355661.3	-	11	1458	c.1448G>T	c.(1447-1449)gGc>gTc	p.G483V	PLEKHA7_ENST00000448080.2_Missense_Mutation_p.G483V|PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Missense_Mutation_p.G483V			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	483					epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding	p.G483V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						TGGCGAGGAGCCCCCCGAGGG	0.637000													24	104					3.6726e-16	6.40752e-16	0.003954	1	0
ZFPM2	23414	broad.mit.edu	37	8	106811100	106811100	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr8:106811100C>A	ENST00000407775.2	+	7	1138	c.888C>A	c.(886-888)agC>agA	p.S296R	RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.S27R|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.S164R|ZFPM2_ENST00000517361.1_Missense_Mutation_p.S164R|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	296					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	p.S296R(1)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			AGATTTCCAGCCTGTGCCCCT	0.493000													9	120					5.4927e-09	8.34077e-09	0.004482	1	0
EIF4G1	1981	broad.mit.edu	37	3	184043360	184043360	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr3:184043360C>G	ENST00000342981.4	+	19	3471	c.3057C>G	c.(3055-3057)atC>atG	p.I1019M	EIF4G1_ENST00000424196.1_Missense_Mutation_p.I1025M|EIF4G1_ENST00000435046.2_Missense_Mutation_p.I822M|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000392537.2_Missense_Mutation_p.I931M|EIF4G1_ENST00000382330.3_Missense_Mutation_p.I1025M|EIF4G1_ENST00000346169.2_Missense_Mutation_p.I1018M|EIF4G1_ENST00000352767.3_Missense_Mutation_p.I1025M|EIF4G1_ENST00000434061.2_Missense_Mutation_p.I823M|EIF4G1_ENST00000319274.6_Missense_Mutation_p.I1018M|EIF4G1_ENST00000414031.1_Missense_Mutation_p.I978M|EIF4G1_ENST00000350481.5_Missense_Mutation_p.I854M|EIF4G1_ENST00000411531.1_Missense_Mutation_p.I979M|EIF4G1_ENST00000441154.1_Missense_Mutation_p.I855M|EIF4G1_ENST00000427845.1_Missense_Mutation_p.I932M	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	1018	eIF3/EIF4A-binding.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	p.I1018M(1)		central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GAGAGCACATCAAAGTGCAGC	0.582000													16	95					0	0	0.003163	0	0
CARD14	79092	broad.mit.edu	37	17	78175572	78175572	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr17:78175572C>G	ENST00000573882.1	+	16	2417	c.1881C>G	c.(1879-1881)ttC>ttG	p.F627L	CARD14_ENST00000344227.2_Missense_Mutation_p.F627L|RP11-334C17.5_ENST00000576824.1_RNA|RP11-334C17.5_ENST00000573346.1_RNA|CARD14_ENST00000392434.2_Intron|CARD14_ENST00000570421.1_Missense_Mutation_p.F627L			Q9BXL6	CAR14_HUMAN	caspase recruitment domain family, member 14	627	PDZ.			DYEASEPLFKAVLEDTTLEEAVGLLRRVDGFCCLSVKVNTD GYKRLLQDLEAK -> SRARPLLSPGLLMGTVAAGGVTQAD FTSPRRCRSTLGWASALSWADVKRSAHL (in Ref. 4; AAH01326).	activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding	p.F627L(1)		NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			AGCCCTTGTTCAAGGCAGTCC	0.592000													5	74					0	0	0.003080	0	0
NDUFS1	4719	broad.mit.edu	37	2	206994878	206994878	+	Silent	SNP	G	G	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr2:206994878G>A	ENST00000233190.5	-	15	1908	c.1642C>T	c.(1642-1644)Ctg>Ttg	p.L548L	NDUFS1_ENST00000440274.1_Silent_p.L512L|NDUFS1_ENST00000432169.1_Silent_p.L437L|NDUFS1_ENST00000423725.1_Silent_p.L491L|NDUFS1_ENST00000457011.1_Silent_p.L432L|NDUFS1_ENST00000455934.2_Silent_p.L562L|NDUFS1_ENST00000449699.1_Silent_p.L548L	NM_005006.6	NP_004997.4	P28331	NDUS1_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)	548					apoptosis|ATP metabolic process|mitochondrial electron transport, NADH to ubiquinone|reactive oxygen species metabolic process|regulation of mitochondrial membrane potential|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding	p.L548L(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					NADH(DB00157)	TCTGCTCCCAGGAGAAACAGC	0.458000													7	68					0	0	0.001984	0	0
IGHV3-23	28442	broad.mit.edu	37	14	106725498	106725498	+	RNA	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr14:106725498C>A	ENST00000390609.2	-	0	132																											GCACCTCACACTGGACACCTG	0.502000													23	105					1.22574e-08	1.84182e-08	0.002299	1	0
KCNA5	3741	broad.mit.edu	37	12	5153913	5153913	+	Missense_Mutation	SNP	A	A	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr12:5153913A>G	ENST00000252321.3	+	1	829	c.600A>G	c.(598-600)atA>atG	p.I200M		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	200						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	p.I200M(1)		NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						CGGACGAGATACGCTTCTACC	0.637000													4	46					0	0	0.000248	0	0
PAQR8	85315	broad.mit.edu	37	6	52268474	52268474	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr6:52268474C>G	ENST00000442253.2	+	2	637	c.463C>G	c.(463-465)Caa>Gaa	p.Q155E	PAQR8_ENST00000360726.3_Missense_Mutation_p.Q155E	NM_133367.4	NP_588608.1	Q8TEZ7	MPRB_HUMAN	progestin and adipoQ receptor family member VIII	155					cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding	p.Q155E(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2)	17	Lung NSC(77;0.0875)					GAGCGTTTACCAATATGGCAG	0.532000													11	188					0	0	0.008291	0	0
RGN	9104	broad.mit.edu	37	X	46949284	46949284	+	Missense_Mutation	SNP	T	T	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chrX:46949284T>G	ENST00000397180.1	+	5	1425	c.456T>G	c.(454-456)atT>atG	p.I152M	RGN_ENST00000352078.4_Missense_Mutation_p.I152M|RGN_ENST00000457380.1_Intron|RGN_ENST00000336169.3_Missense_Mutation_p.I152M	NM_152869.2	NP_690608.1	Q15493	RGN_HUMAN	regucalcin	152					cellular calcium ion homeostasis|positive regulation of ATPase activity|regulation of calcium-mediated signaling	cytoplasm|nucleus	calcium ion binding|enzyme regulator activity|gluconolactonase activity|zinc ion binding	p.I152M(1)		breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	9						AGGTGGACATTTCCAATGGTT	0.502000													11	71					0	0	0.008291	0	0
NCAPD3	23310	broad.mit.edu	37	11	134063940	134063940	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr11:134063940C>G	ENST00000534548.2	-	15	1859	c.1795G>C	c.(1795-1797)Gcc>Ccc	p.A599P		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	599					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding	p.Q598_A599>HP(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		GACTGGAGGGCCTGCTTCCGG	0.443000													11	46					0	0	0.008291	0	0
GOLGA2	2801	broad.mit.edu	37	9	131019541	131019541	+	Silent	SNP	G	G	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr9:131019541G>A	ENST00000421699.2	-	26	2826	c.2814C>T	c.(2812-2814)ctC>ctT	p.L938L		NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	938						Golgi cisterna membrane	protein binding	p.L926L(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						CACTGCCGGCGAGGCTCACCT	0.637000													6	47					0	0	0.001168	0	0
PREX2	80243	broad.mit.edu	37	8	68992817	68992817	+	Silent	SNP	A	A	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr8:68992817A>G	ENST00000288368.4	+	16	2059	c.1782A>G	c.(1780-1782)ttA>ttG	p.L594L	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	594	PDZ 1.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	p.L594L(2)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						CTAAGTCATTATTGGTAAGTT	0.328000													4	38					0	0	0.000248	0	0
NXF5	55998	broad.mit.edu	37	X	101096645	101096645	+	Splice_Site	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chrX:101096645C>A	ENST00000537026.1	-	5	600		c.e5+1		NXF5_ENST00000361708.2_Splice_Site|NXF5_ENST00000473265.2_Splice_Site	NM_032946.2	NP_116564.2	Q9H1B4	NXF5_HUMAN	nuclear RNA export factor 5						mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nucleus	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding	p.?(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						TCAGCACACACCTTTTGGTTC	0.493000													25	116					2.98393e-07	4.21866e-07	0.002780	1	0
SPDYC	387778	broad.mit.edu	37	11	64939753	64939753	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr11:64939753G>A	ENST00000377185.2	+	4	377	c.295G>A	c.(295-297)Gcc>Acc	p.A99T		NM_001008778.1	NP_001008778.1	Q5MJ68	SPDYC_HUMAN	speedy/RINGO cell cycle regulator family member C	99	Speedy/Ringo box; Required for CDK- binding (By similarity).				cell cycle	nucleus	protein kinase binding	p.A99T(2)		breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)	16						CTTCCAGCGCGCCCACCTGAA	0.602000													4	76					0	0	0.000248	0	0
ATL2	64225	broad.mit.edu	37	2	38536571	38536571	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr2:38536571C>G	ENST00000378954.4	-	9	1022	c.1021G>C	c.(1021-1023)Gag>Cag	p.E341Q	ATL2_ENST00000406122.1_Missense_Mutation_p.E170Q|ATL2_ENST00000452935.2_Missense_Mutation_p.E323Q|ATL2_ENST00000419554.2_Missense_Mutation_p.E341Q|ATL2_ENST00000332337.4_Missense_Mutation_p.E323Q|ATL2_ENST00000402054.1_Missense_Mutation_p.E170Q|ATL2_ENST00000539122.1_Missense_Mutation_p.E170Q|ATL2_ENST00000546051.1_Missense_Mutation_p.E170Q	NM_001135673.1|NM_022374.2	NP_001129145.1|NP_071769.2	Q8NHH9	ATLA2_HUMAN	atlastin GTPase 2	341					endoplasmic reticulum organization|Golgi organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding	p.E341Q(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22						CCACTTATCTCTTTTTCTACC	0.338000													4	76					0	0	0.000248	0	0
IGFBP1	3484	broad.mit.edu	37	7	45930284	45930284	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr7:45930284G>C	ENST00000275525.3	+	2	783	c.487G>C	c.(487-489)Gct>Cct	p.A163P	IGFBP1_ENST00000468955.1_Missense_Mutation_p.A163P|IGFBP1_ENST00000457280.1_Missense_Mutation_p.A163P	NM_000596.2	NP_000587.1	P08833	IBP1_HUMAN	insulin-like growth factor binding protein 1	163						extracellular space	insulin-like growth factor binding	p.A163P(1)		large_intestine(2)|lung(4)	6						TGGCTCGAAGGCTCTCCATGT	0.517000											OREG0018048	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	94					0	0	0.004656	0	0
TRIM43	129868	broad.mit.edu	37	2	96259801	96259801	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr2:96259801G>C	ENST00000272395.2	+	2	166	c.30G>C	c.(28-30)caG>caC	p.Q10H		NM_001164464.1|NM_138800.1	NP_001157936.1|NP_620155.1	Q96BQ3	TRI43_HUMAN	tripartite motif containing 43	10						intracellular	zinc ion binding	p.Q10H(2)		breast(1)|large_intestine(3)|lung(7)|ovary(1)	12						ATGCCTTCCAGAAGGAACTCA	0.483000													21	173					0	0	0.004656	0	0
PLEKHA4	57664	broad.mit.edu	37	19	49351253	49351253	+	Silent	SNP	C	C	A	rs148488396		TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr19:49351253C>A	ENST00000263265.6	-	14	2025	c.1470G>T	c.(1468-1470)acG>acT	p.T490T	PLEKHA4_ENST00000355496.5_Silent_p.T465T	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	490						cytoplasm|membrane	1-phosphatidylinositol binding	p.T490T(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		GACCTGCCAGCGTGTCTTCCA	0.587000													5	28					0.000602214	0.000729264	0.000602	1	0
CTSF	8722	broad.mit.edu	37	11	66335003	66335003	+	Missense_Mutation	SNP	A	A	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr11:66335003A>G	ENST00000310325.5	-	3	552	c.443T>C	c.(442-444)aTt>aCt	p.I148T	CTSF_ENST00000533168.1_5'UTR	NM_003793.3	NP_003784.2	Q9UBX1	CATF_HUMAN	cathepsin F	148					proteolysis	lysosome	cysteine-type endopeptidase activity	p.I148T(1)		endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						CAGAGAAGAAATCATGGCTGA	0.557000													12	99					0	0	0.001368	0	0
MKI67	4288	broad.mit.edu	37	10	129905011	129905011	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr10:129905011C>G	ENST00000368654.3	-	13	5468	c.5093G>C	c.(5092-5094)aGa>aCa	p.R1698T	MKI67_ENST00000368653.3_Missense_Mutation_p.R1338T	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1698	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	p.R1698T(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CTTAGGAGTTCTCAGCTGCCT	0.478000													9	76					0	0	0.004482	0	0
JAK2	3717	broad.mit.edu	37	9	5029787	5029787	+	Silent	SNP	C	C	T	rs139093384	by1000genomes	TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr9:5029787C>T	ENST00000381652.3	+	4	725	c.231C>T	c.(229-231)atC>atT	p.I77I	JAK2_ENST00000539801.1_Silent_p.I77I	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	77	FERM.|Interaction with cytokine/interferon/growth hormone receptors (By similarity).				actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding	p.I77I(1)	BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)		TTCTAGGTATCACACCTGTGT	0.343000		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial				5	114					0	0	0.000602	0	0
SLC14A2	8170	broad.mit.edu	37	18	43249369	43249369	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr18:43249369C>G	ENST00000255226.6	+	16	2951	c.2135C>G	c.(2134-2136)gCc>gGc	p.A712G	RP11-116O18.3_ENST00000589510.1_RNA|SLC14A2_ENST00000589658.1_Missense_Mutation_p.A189G|SLC14A2_ENST00000586448.1_Missense_Mutation_p.A712G	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	712						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity	p.A712G(1)		NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TACCTGGCAGCCACGGGCCAC	0.572000													25	114					0	0	0.004656	0	0
OR10S1	219873	broad.mit.edu	37	11	123847504	123847504	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr11:123847504G>C	ENST00000531945.1	-	1	984	c.895C>G	c.(895-897)Cca>Gca	p.P299A		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	299					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P299A(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TAAATGAATGGGTTGAGCATT	0.547000													13	83					0	0	0.001368	0	0
TOP1	7150	broad.mit.edu	37	20	39746848	39746848	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr20:39746848G>A	ENST00000361337.2	+	18	2112	c.1862G>A	c.(1861-1863)cGt>cAt	p.R621H	RP1-1J6.2_ENST00000454626.1_RNA	NM_003286.2	NP_003277.1	P11387	TOP1_HUMAN	topoisomerase (DNA) I	621					DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug	chromosome|nucleolus|nucleoplasm	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|protein binding	p.R621H(1)		breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030)	TCTTATAACCGTGCCAATCGA	0.423000			T	NUP98	AML*								9	41					0	0	0.004482	0	0
NAV1	89796	broad.mit.edu	37	1	201757598	201757598	+	Missense_Mutation	SNP	A	A	C			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr1:201757598A>C	ENST00000367296.4	+	10	3418	c.2998A>C	c.(2998-3000)Agt>Cgt	p.S1000R	NAV1_ENST00000367297.4_Missense_Mutation_p.S1000R|NAV1_ENST00000367300.3_Intron|NAV1_ENST00000367302.1_Intron|NAV1_ENST00000295624.6_Missense_Mutation_p.S1000R|NAV1_ENST00000469130.1_3'UTR|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367295.1_Missense_Mutation_p.S609R	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1000					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding	p.S1000R(1)		breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						ccttccAGTGAGTCCCACTGC	0.652000													9	88					0	0	0.006214	0	0
CCDC61	729440	broad.mit.edu	37	19	46519634	46519634	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr19:46519634G>C	ENST00000263284.2	+	10	1131	c.1131G>C	c.(1129-1131)caG>caC	p.Q377H	CCDC61_ENST00000595358.1_Missense_Mutation_p.Q358H|CCDC61_ENST00000594087.1_Intron|CCDC61_ENST00000536603.1_Intron					coiled-coil domain containing 61									p.Q377H(1)		endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00221)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.164)		AAAGGAAGCAGAGAGAGATCC	0.657000													3	31					0	0	0.000248	0	0
PDE6C	5146	broad.mit.edu	37	10	95421882	95421882	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr10:95421882C>A	ENST00000371447.3	+	19	2413	c.2275C>A	c.(2275-2277)Caa>Aaa	p.Q759K	PDE6C_ENST00000475427.2_3'UTR	NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	759					visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding	p.Q759K(1)		breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				GTTGCAGCAACAACCCATTGT	0.438000													3	44					0.004672	0.00539583	0.004672	1	0
CTNND1	1500	broad.mit.edu	37	11	57564429	57564429	+	Silent	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr11:57564429G>T	ENST00000524630.1	+	6	1434	c.921G>T	c.(919-921)cgG>cgT	p.R307R	CTNND1_ENST00000532463.1_Silent_p.R206R|CTNND1_ENST00000532245.1_Silent_p.R206R|CTNND1_ENST00000361332.4_Silent_p.R307R|CTNND1_ENST00000534579.1_Silent_p.R253R|CTNND1_ENST00000399039.4_Silent_p.R307R|CTNND1_ENST00000426142.2_Silent_p.R206R|CTNND1_ENST00000530748.1_Silent_p.R253R|CTNND1_ENST00000525902.1_Intron|CTNND1_ENST00000526772.1_Intron|CTNND1_ENST00000528232.1_Silent_p.R206R|CTNND1_ENST00000531014.1_Intron|CTNND1_ENST00000529986.1_Silent_p.R206R|CTNND1_ENST00000526938.1_Silent_p.R307R|CTNND1_ENST00000529873.1_Silent_p.R253R|CTNND1_ENST00000532787.1_Silent_p.R206R|CTNND1_ENST00000358694.6_Silent_p.R307R|CTNND1_ENST00000399050.4_Silent_p.R307R|CTNND1_ENST00000529526.1_Silent_p.R253R|CTNND1_ENST00000529919.1_Silent_p.R307R|CTNND1_ENST00000415361.2_Silent_p.R206R|CTNND1_ENST00000528621.1_Silent_p.R253R|CTNND1_ENST00000533667.1_Intron|CTNND1_ENST00000526357.1_Silent_p.R253R|CTNND1_ENST00000532844.1_Silent_p.R253R|CTNND1_ENST00000532649.1_Silent_p.R253R|CTNND1_ENST00000361391.6_Silent_p.R307R|CTNND1_ENST00000361796.4_Silent_p.R307R|CTNND1_ENST00000530094.1_Silent_p.R206R|CTNND1_ENST00000428599.2_Silent_p.R307R|CTNND1_ENST00000360682.6_Silent_p.R307R|CTNND1_ENST00000527467.1_Intron			O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	307					adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding	p.R307R(2)		breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				CTGCCCGTCGGACTGGGACAC	0.532000													22	65					2.39556e-15	4.12929e-15	0.002780	1	0
TRPM8	79054	broad.mit.edu	37	2	234894455	234894455	+	Missense_Mutation	SNP	T	T	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr2:234894455T>G	ENST00000324695.4	+	21	2925	c.2885T>G	c.(2884-2886)aTc>aGc	p.I962S	TRPM8_ENST00000433712.2_Missense_Mutation_p.I540S	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	962						integral to membrane		p.I962S(1)		breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	CTGGTGTGCATCTACATGTTA	0.557000													4	63					0	0	0.000248	0	0
CORIN	10699	broad.mit.edu	37	4	47625744	47625744	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr4:47625744G>A	ENST00000273857.4	-	19	2383	c.2384C>T	c.(2383-2385)gCt>gTt	p.A795V	CORIN_ENST00000502252.1_Missense_Mutation_p.A728V|CORIN_ENST00000515827.1_5'UTR|CORIN_ENST00000508498.1_Missense_Mutation_p.A656V|CORIN_ENST00000505909.1_Missense_Mutation_p.A758V	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	795	SRCR.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity	p.A795V(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						CATTCGGGCAGCAGGGCGGCG	0.532000													4	64					0	0	0.000602	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117432097	117432097	+	Nonsense_Mutation	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr7:117432097C>A	ENST00000160373.3	-	4	1244	c.1153G>T	c.(1153-1155)Gga>Tga	p.G385*		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	385	Pro-rich.							p.G385L(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		GTGCTTGGTCCATTTTCCTCA	0.547000													11	125					0.000978159	0.00116972	0.000978	1	0
ZNF483	158399	broad.mit.edu	37	9	114289741	114289741	+	Silent	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr9:114289741G>T	ENST00000309235.5	+	2	224	c.66G>T	c.(64-66)tcG>tcT	p.S22S	ZNF483_ENST00000374374.3_Silent_p.S22S|ZNF483_ENST00000358151.4_Silent_p.S22S|ZNF483_ENST00000355824.3_Silent_p.S22S	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	22					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S22S(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						CTCTGGCCTCGACTGAACAAA	0.478000													7	87					2.7689e-08	4.07525e-08	0.001984	1	0
CSNK1A1L	122011	broad.mit.edu	37	13	37679325	37679325	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr13:37679325G>C	ENST00000379800.3	-	1	478	c.69C>G	c.(67-69)atC>atG	p.I23M		NM_145203.5	NP_660204.2	Q8N752	KC1AL_HUMAN	casein kinase 1, alpha 1-like	23	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity	p.I23M(1)		NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		AGCCAGACCCGATCTTCCGCA	0.557000													3	101					0	0	0.000602	0	0
ABCC11	85320	broad.mit.edu	37	16	48226557	48226557	+	Silent	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr16:48226557G>T	ENST00000394747.1	-	19	2929	c.2580C>A	c.(2578-2580)tcC>tcA	p.S860S	ABCC11_ENST00000356608.2_Silent_p.S860S|ABCC11_ENST00000537808.1_3'UTR|ABCC11_ENST00000353782.5_Silent_p.S860S|ABCC11_ENST00000394748.1_Silent_p.S860S	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	860	ABC transmembrane type-1 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.S860S(1)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				GCTGGTAGAAGGACAGTTGAG	0.557000													17	85					1.99824e-07	2.84612e-07	0.004990	1	0
RASGRP3	25780	broad.mit.edu	37	2	33783856	33783856	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr2:33783856C>A	ENST00000403687.3	+	17	2563	c.1823C>A	c.(1822-1824)gCc>gAc	p.A608D	RASGRP3_ENST00000402538.3_Missense_Mutation_p.A608D|AC020594.5_ENST00000437680.1_RNA|RASGRP3_ENST00000407811.1_Missense_Mutation_p.A607D	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	608					MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity	p.A608D(1)		large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					CTACAGAGGGCCACCACCAGC	0.567000													7	81					0.00198382	0.00231917	0.001984	1	0
HRNR	388697	broad.mit.edu	37	1	152193307	152193307	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr1:152193307C>G	ENST00000368801.2	-	3	873	c.798G>C	c.(796-798)caG>caC	p.Q266H	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	266					keratinization		calcium ion binding|protein binding	p.Q266H(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCTAGATGACTGTCCTGACC	0.557000													25	700					0	0	0.002780	0	0
NXF3	56000	broad.mit.edu	37	X	102339665	102339665	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chrX:102339665G>C	ENST00000395065.3	-	2	276	c.175C>G	c.(175-177)Cac>Gac	p.H59D	NXF3_ENST00000425463.2_Intron|NXF3_ENST00000425644.1_5'UTR	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	59						cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding	p.H59D(1)		NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						GAGTCCATGTGGGCACCATGC	0.453000													23	133					0	0	0.002299	0	0
DMRTA2	63950	broad.mit.edu	37	1	50885323	50885323	+	Missense_Mutation	SNP	T	T	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr1:50885323T>G	ENST00000404795.3	-	3	1035	c.643A>C	c.(643-645)Aag>Cag	p.K215Q	DMRTA2_ENST00000418121.1_Missense_Mutation_p.K215Q	NM_032110.2	NP_115486.1	Q96SC8	DMTA2_HUMAN	DMRT-like family A2	215	Gly-rich.				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	p.K215Q(1)		endometrium(1)|lung(4)|pancreas(1)	6						GATAAGGGCTTCACCGGCGGC	0.677000													2	6					0	0	0.004672	0	0
ARSK	153642	broad.mit.edu	37	5	94922387	94922387	+	Missense_Mutation	SNP	A	A	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr5:94922387A>G	ENST00000380009.4	+	5	1026	c.821A>G	c.(820-822)aAt>aGt	p.N274S		NM_198150.2	NP_937793.1	Q6UWY0	ARSK_HUMAN	arylsulfatase family, member K	274						extracellular region	arylsulfatase activity|metal ion binding	p.N274S(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1)	16		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)		all cancers(79;6.5e-16)		GAAATTAAGAATATTAGAGCA	0.308000													7	52					0	0	0.003080	0	0
NOS2	4843	broad.mit.edu	37	17	26087144	26087144	+	Missense_Mutation	SNP	A	A	C			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr17:26087144A>C	ENST00000313735.6	-	25	3304	c.3071T>G	c.(3070-3072)aTc>aGc	p.I1024S		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	1024					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding	p.I1024S(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	CTCCTGGTAGATGTGGTCCTC	0.627000											OREG0024268	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	67					0	0	0.000602	0	0
SAA2	6289	broad.mit.edu	37	11	18269519	18269519	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr11:18269519G>C	ENST00000414546.2	-	2	84	c.40C>G	c.(40-42)Ctg>Gtg	p.L14V	SAA2_ENST00000530400.1_Missense_Mutation_p.L14V|SAA2_ENST00000529528.1_Missense_Mutation_p.L14V|SAA2_ENST00000528349.1_Missense_Mutation_p.L14V|SAA2_ENST00000526900.1_Missense_Mutation_p.L14V|SAA2_ENST00000256733.4_Missense_Mutation_p.L14V|SAA2-SAA4_ENST00000524555.1_RNA	NM_001127380.2	NP_001120852.1			serum amyloid A2									p.L14V(1)		central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(1)	6						CTGACACTCAGGACCAAGGAG	0.522000													15	80					0	0	0.003163	0	0
CCDC141	285025	broad.mit.edu	37	2	179720986	179720986	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr2:179720986G>T	ENST00000420890.2	-	18	2980	c.2863C>A	c.(2863-2865)Cag>Aag	p.Q955K	CCDC141_ENST00000295723.5_Missense_Mutation_p.Q380K	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	380							protein binding	p.Q380K(1)|p.Q955K(1)		NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			CTTGTTACCTGCATTTTTTCA	0.299000													5	60					0.00116845	0.00138002	0.001168	1	0
RNF157	114804	broad.mit.edu	37	17	74150404	74150404	+	Silent	SNP	A	A	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr17:74150404A>G	ENST00000269391.6	-	17	1902	c.1770T>C	c.(1768-1770)aaT>aaC	p.N590N	RNF157-AS1_ENST00000586661.1_RNA|RNF157_ENST00000319945.6_Silent_p.N568N|RNF157-AS1_ENST00000592748.1_RNA	NM_052916.2	NP_443148.1	Q96PX1	RN157_HUMAN	ring finger protein 157	590							zinc ion binding	p.N1193N(1)		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)			CTATAACATCATTTCCCTAGG	0.423000													28	156					0	0	0.007291	0	0
ZNF649	65251	broad.mit.edu	37	19	52394602	52394602	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr19:52394602C>A	ENST00000354957.3	-	5	1071	c.787G>T	c.(787-789)Ggg>Tgg	p.G263W	ZNF649_ENST00000600738.1_Missense_Mutation_p.G235W|CTC-429C10.2_ENST00000600329.1_RNA	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN	zinc finger protein 649	263					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G263W(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		TCACTGCACCCGTATGGTTTC	0.502000													21	93					1.87028e-06	2.58685e-06	0.001882	1	0
TNFAIP2	7127	broad.mit.edu	37	14	103596404	103596404	+	Silent	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr14:103596404G>T	ENST00000560869.1	+	5	1680	c.1041G>T	c.(1039-1041)gtG>gtT	p.V347V	TNFAIP2_ENST00000451723.2_Silent_p.V16V|TNFAIP2_ENST00000333007.1_Silent_p.V347V			Q03169	TNAP2_HUMAN	tumor necrosis factor, alpha-induced protein 2	347					angiogenesis|cell differentiation	extracellular space		p.V347V(1)		NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	11		Melanoma(154;0.155)	Epithelial(46;0.191)			CTGAGGATGTGCCTCCCCAGA	0.647000													10	17					1.33987e-11	2.17871e-11	0.008291	1	0
SAFB2	9667	broad.mit.edu	37	19	5612565	5612565	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr19:5612565G>T	ENST00000252542.4	-	6	884	c.620C>A	c.(619-621)tCc>tAc	p.S207Y		NM_014649.2	NP_055464.1	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	207					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding	p.S207Y(1)		endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		CTCCAAAAGGGATTCTTCAAT	0.338000													9	44					1.76689e-08	2.62066e-08	0.006214	1	0
CNTN3	5067	broad.mit.edu	37	3	74350797	74350797	+	Splice_Site	SNP	C	C	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr3:74350797C>G	ENST00000263665.6	-	14	1973		c.e14+1			NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)						cell adhesion	anchored to membrane|plasma membrane	protein binding	p.?(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		TCCTGCTTTACCTGTTGTGAC	0.443000													3	57					0	0	0.004672	0	0
ADH6	130	broad.mit.edu	37	4	100131598	100131598	+	Silent	SNP	A	A	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr4:100131598A>G	ENST00000394897.1	-	4	406	c.324T>C	c.(322-324)tcT>tcC	p.S108S	RP11-696N14.1_ENST00000506160.1_RNA|RP11-696N14.1_ENST00000506454.1_RNA|ADH6_ENST00000407820.2_5'UTR|RP11-696N14.1_ENST00000500358.2_RNA|ADH6_ENST00000394899.2_Silent_p.S108S|ADH6_ENST00000237653.7_Silent_p.S108S			P28332	ADH6_HUMAN	alcohol dehydrogenase 6 (class V)	108					ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding	p.S108S(2)		breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)|NADH(DB00157)	AATTGCCCTCAGAATTCAGGC	0.303000													7	90					0	0	0.004482	0	0
FRG2B	441581	broad.mit.edu	37	10	135440223	135440223	+	Silent	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr10:135440223G>T	ENST00000443774.1	-	1	73	c.24C>A	c.(22-24)ccC>ccA	p.P8P	FRG2B_ENST00000425520.1_Silent_p.P8P			Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	8						nucleus		p.P8P(1)		endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		AGTGGAGATCGGGGTCTTCAT	0.507000													6	316					2.62699e-14	4.48777e-14	0.003163	1	0
DDX43	55510	broad.mit.edu	37	6	74123487	74123487	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr6:74123487T>C	ENST00000370336.4	+	12	1633	c.1475T>C	c.(1474-1476)gTc>gCc	p.V492A	MB21D1_ENST00000370318.1_3'UTR|DDX43_ENST00000479773.1_3'UTR	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43	492	Helicase C-terminal.					intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding	p.V492A(1)		NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						AAAGTCATTGTCTTCGTTTCT	0.323000													9	58					0	0	0.001368	0	0
GUCY2F	2986	broad.mit.edu	37	X	108628439	108628439	+	Missense_Mutation	SNP	G	G	T	rs55735218		TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chrX:108628439G>T	ENST00000218006.2	-	16	3320	c.3029C>A	c.(3028-3030)gCt>gAt	p.A1010D		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	1010	Guanylate cyclase.		A -> V (in dbSNP:rs55735218).		intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	p.A1010D(1)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						CATCCGAGAAGCTGTGTTCAC	0.493000													18	72					7.45023e-12	1.21836e-11	0.001523	1	0
MUC16	94025	broad.mit.edu	37	19	9013855	9013855	+	Silent	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr19:9013855G>T	ENST00000397910.4	-	33	38738	c.38535C>A	c.(38533-38535)ccC>ccA	p.P12845P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12847				Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.P12845P(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATGTAGGGCTGGGGAGGGAGG	0.478000													8	29					5.18039e-06	6.98015e-06	0.003080	1	0
GZMB	3002	broad.mit.edu	37	14	25103412	25103412	+	Translation_Start_Site	SNP	T	T	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr14:25103412T>A	ENST00000216341.4	-	0	61				GZMB_ENST00000415355.3_De_novo_Start_InFrame|GZMB_ENST00000382542.1_Missense_Mutation_p.Q19H|RP11-104E19.1_ENST00000557736.1_RNA|RP11-104E19.1_ENST00000555300.1_RNA|GZMB_ENST00000382540.1_De_novo_Start_OutOfFrame			P10144	GRAB_HUMAN	granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1)						activation of pro-apoptotic gene products|cleavage of lamin|cytolysis|induction of apoptosis by intracellular signals	cytosol|immunological synapse|nucleus	protein binding|serine-type endopeptidase activity	p.Q19H(1)		endometrium(2)|large_intestine(1)|lung(4)|stomach(4)|urinary_tract(2)	13				GBM - Glioblastoma multiforme(265;0.028)		TGTTTCCTCCTTGCTCTCTTT	0.527000													4	7					0	0	0.000248	0	0
DRC1	92749	broad.mit.edu	37	2	26663341	26663341	+	Silent	SNP	A	A	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr2:26663341A>G	ENST00000288710.2	+	8	1058	c.984A>G	c.(982-984)gaA>gaG	p.E328E	DRC1_ENST00000483675.1_3'UTR	NM_145038.2	NP_659475.2			dynein regulatory complex subunit 1 homolog (Chlamydomonas)									p.E328E(1)									AGAGAGATGAAGAAAGCACAG	0.428000													5	52					0	0	0.000602	0	0
CCDC102B	79839	broad.mit.edu	37	18	66721318	66721318	+	Nonsense_Mutation	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr18:66721318G>T	ENST00000360242.5	+	8	1603	c.1486G>T	c.(1486-1488)Gag>Tag	p.E496*	CCDC102B_ENST00000319445.6_Nonsense_Mutation_p.E496*	NM_024781.2	NP_079057.2	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	496								p.E496*(1)		breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				TCTGGATGAAGAGAAAGAAAG	0.368000													15	104					6.72482e-11	1.07823e-10	0.003163	1	0
CAMSAP2	23271	broad.mit.edu	37	1	200819110	200819110	+	Silent	SNP	A	A	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr1:200819110A>G	ENST00000358823.2	+	11	3483	c.3213A>G	c.(3211-3213)gaA>gaG	p.E1071E	CAMSAP2_ENST00000413307.2_Silent_p.E1055E|CAMSAP2_ENST00000236925.4_Silent_p.E1082E	NM_203459.1	NP_982284.1	Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	1082						cytoplasm|microtubule	protein binding	p.E1071E(1)									CAGTCTCTGAAGTCCTATCAC	0.443000													19	90					0	0	0.006122	0	0
HIST2H2AC	8338	broad.mit.edu	37	1	149858839	149858839	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr1:149858839G>C	ENST00000331380.2	+	1	315	c.315G>C	c.(313-315)caG>caC	p.Q105H		NM_003517.2	NP_003508.1	Q16777	H2A2C_HUMAN	histone cluster 2, H2ac	105					nucleosome assembly	nucleosome|nucleus	DNA binding	p.Q105H(1)		NS(1)|breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|ovary(1)|skin(1)	20	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			CCATCGCCCAGGGCGGCGTTT	0.522000													8	142					0	0	0.004482	0	0
PTPRN2	5799	broad.mit.edu	37	7	158334246	158334246	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr7:158334246G>A	ENST00000404321.2	-	1	52	c.53C>T	c.(52-54)aCt>aTt	p.T18I	PTPRN2_ENST00000409483.1_Intron|PTPRN2_ENST00000389418.4_Intron|PTPRN2_ENST00000389416.4_Intron|PTPRN2_ENST00000389413.3_Intron			Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	0						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)		CATCTTCATAGTAGGAAAGCT	0.498000													5	94					0	0	0.000602	0	0
EXOC2	55770	broad.mit.edu	37	6	633069	633069	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr6:633069G>C	ENST00000230449.4	-	3	302	c.167C>G	c.(166-168)tCt>tGt	p.S56C	EXOC2_ENST00000448181.3_Intron	NM_018303.4	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	56	IPT/TIG.				exocytosis|protein transport			p.S56C(1)		breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		TTTACTTGCAGACATCCATTC	0.413000													4	111					0	0	0.000248	0	0
KRTAP19-7	337974	broad.mit.edu	37	21	31933420	31933420	+	Silent	SNP	A	A	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr21:31933420A>G	ENST00000334849.2	-	1	213	c.189T>C	c.(187-189)taT>taC	p.Y63Y		NM_181614.1	NP_853645.1	Q3SYF9	KR197_HUMAN	keratin associated protein 19-7	63						intermediate filament		p.Y63Y(1)		endometrium(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	11						TATTTATTCAATAGAATCCAG	0.423000													10	179					0	0	0.008291	0	0
TRAK2	66008	broad.mit.edu	37	2	202264117	202264117	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr2:202264117C>T	ENST00000332624.3	-	5	891	c.463G>A	c.(463-465)Gga>Aga	p.G155R	TRAK2_ENST00000430254.1_Missense_Mutation_p.G155R	NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	155						early endosome|plasma membrane	GABA receptor binding	p.G155R(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						AAGGCTTGTCCCAATTGCTCC	0.418000													7	47					0	0	0.001984	0	0
ZCCHC6	79670	broad.mit.edu	37	9	88967669	88967669	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr9:88967669C>T	ENST00000375961.2	-	2	660	c.446G>A	c.(445-447)aGa>aAa	p.R149K	ZCCHC6_ENST00000375963.3_Missense_Mutation_p.R149K|ZCCHC6_ENST00000375960.2_Missense_Mutation_p.R149K|ZCCHC6_ENST00000277141.6_5'UTR			Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	149					RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding	p.R149K(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						TCTTACAGTTCTGCAGCCTCT	0.408000													15	169					0	0	0.002450	0	0
LAMB1	3912	broad.mit.edu	37	7	107572810	107572810	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr7:107572810G>T	ENST00000393561.1	-	26	4457	c.4273C>A	c.(4273-4275)Ccc>Acc	p.P1425T	LAMB1_ENST00000474380.1_5'UTR|LAMB1_ENST00000222399.6_Missense_Mutation_p.P1401T			P07942	LAMB1_HUMAN	laminin, beta 1	1401	Domain alpha.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	p.P1401T(1)		NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCCCCTGGGGGTGTTCCACAG	0.592000													8	64					0.000274275	0.000337118	0.004482	1	0
CCDC74A	90557	broad.mit.edu	37	2	132289308	132289308	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr2:132289308C>A	ENST00000467992.2	+	2	1236	c.922C>A	c.(922-924)Ctg>Atg	p.L308M	CCDC74A_ENST00000295171.6_Missense_Mutation_p.L206M|CCDC74A_ENST00000409856.3_Missense_Mutation_p.L140M			Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	206								p.L206M(1)		endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						GAAGGCGGACCTGGAAGAGGA	0.582000													8	105					1.08611e-07	1.56247e-07	0.000978	1	0
IGKV1-17	28937	broad.mit.edu	37	2	89417045	89417045	+	RNA	SNP	C	C	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr2:89417045C>T	ENST00000490686.1	-	0	165																											CCCTGACTTGCCCGGCAAGTG	0.512000													5	174					0	0	0.001168	0	0
APOC3	345	broad.mit.edu	37	11	116701581	116701581	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr11:116701581G>C	ENST00000375345.1	+	3	264	c.202G>C	c.(202-204)Gtg>Ctg	p.V68L	APOC3_ENST00000227667.3_Missense_Mutation_p.V50L|APOC3_ENST00000470144.1_3'UTR			P02656	APOC3_HUMAN	apolipoprotein C-III	50	Lipid-binding.				Cdc42 protein signal transduction|cholesterol efflux|cholesterol homeostasis|chylomicron remnant clearance|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle remodeling|lipoprotein metabolic process|negative regulation of cholesterol import|negative regulation of fatty acid biosynthetic process|negative regulation of high-density lipoprotein particle clearance|negative regulation of lipoprotein lipase activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor-mediated endocytosis|negative regulation of triglyceride catabolic process|negative regulation of very-low-density lipoprotein particle clearance|negative regulation of very-low-density lipoprotein particle remodeling|phospholipid efflux|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle assembly	chylomicron|intermediate-density lipoprotein particle|spherical high-density lipoprotein particle|very-low-density lipoprotein particle	high-density lipoprotein particle receptor binding|lipase inhibitor activity|phospholipid binding	p.V50M(1)|p.V50L(1)		endometrium(1)|lung(6)	7	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		ACTGAGCAGCGTGCAGGAGTC	0.657000													4	40					0	0	0.000248	0	0
BYSL	705	broad.mit.edu	37	6	41897940	41897940	+	Nonsense_Mutation	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr6:41897940G>T	ENST00000230340.4	+	3	877	c.502G>T	c.(502-504)Gag>Tag	p.E168*		NM_004053.3	NP_004044.3	Q13895	BYST_HUMAN	bystin-like	168					cell adhesion|female pregnancy|ribosome biogenesis	cytoplasm|nucleolus		p.E168*(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(5)|skin(1)	8	Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000473)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			AGTCATGTCAGAGGTGTCGGG	0.597000													8	68					0.00448238	0.00519775	0.004482	1	0
CPA3	1359	broad.mit.edu	37	3	148596504	148596504	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr3:148596504C>A	ENST00000296046.3	+	5	495	c.443C>A	c.(442-444)aCt>aAt	p.T148N	RP11-680B3.2_ENST00000488190.1_RNA	NM_001870.2	NP_001861.2	P15088	CBPA3_HUMAN	carboxypeptidase A3 (mast cell)	148					proteolysis	stored secretory granule|transport vesicle	metallocarboxypeptidase activity|zinc ion binding	p.T148N(1)		NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			ATTGGATCTACTGTTGAAGAT	0.294000													25	116					3.28513e-13	5.51363e-13	0.003954	1	0
HPX	3263	broad.mit.edu	37	11	6458780	6458780	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr11:6458780T>C	ENST00000265983.3	-	6	693	c.593A>G	c.(592-594)tAc>tGc	p.Y198C		NM_000613.2	NP_000604.1	P02790	HEMO_HUMAN	hemopexin	198	Hemopexin-like 3.				cellular iron ion homeostasis|interspecies interaction between organisms	extracellular space	heme transporter activity|metal ion binding|protein binding	p.Y198C(1)		endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)		GAAGCAGTAGTAGCGGCCCAG	0.617000													10	46					0	0	0.006214	0	0
OR10R2	343406	broad.mit.edu	37	1	158450078	158450078	+	Silent	SNP	G	G	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr1:158450078G>A	ENST00000368152.1	+	1	411	c.411G>A	c.(409-411)gtG>gtA	p.V137V	RP11-144L1.4_ENST00000419738.1_RNA|RP11-144L1.4_ENST00000426251.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	137					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V137V(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					TATTGGGTGTGATGGGTTATG	0.478000													17	455					0	0	0.008871	0	0
ZNF599	148103	broad.mit.edu	37	19	35258315	35258315	+	Splice_Site	SNP	C	C	T	rs147712651		TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr19:35258315C>T	ENST00000587354.1	-	3	534	c.145_splice	c.e3-1	p.G49_splice	ZNF599_ENST00000329285.7_Splice_Site_p.G49_splice|ZNF599_ENST00000588760.1_Splice_Site_p.G49_splice			Q96NL3	ZN599_HUMAN	zinc finger protein 599	49	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G49G(1)		endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			GAACAGGATGCCCTGTGCATG	0.453000													3	53					0	0	0.000248	0	0
CDHR2	54825	broad.mit.edu	37	5	176022636	176022636	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr5:176022636C>A	ENST00000510636.1	+	32	4170	c.3896C>A	c.(3895-3897)tCc>tAc	p.S1299Y	CDHR2_ENST00000506348.1_Missense_Mutation_p.S1299Y|CDHR2_ENST00000261944.5_Missense_Mutation_p.S1299Y	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	1299					homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding	p.S1299Y(1)		breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						GAGGGGCCATCCTACACCAAC	0.637000													24	97					7.01153e-11	1.11795e-10	0.007291	1	0
PTPN3	5774	broad.mit.edu	37	9	112166750	112166750	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr9:112166750C>A	ENST00000412145.1	-	14	4091	c.1538G>T	c.(1537-1539)gGg>gTg	p.G513V	PTPN3_ENST00000262539.3_Missense_Mutation_p.G490V|PTPN3_ENST00000446349.1_Missense_Mutation_p.G468V|PTPN3_ENST00000394827.3_Missense_Mutation_p.G112V|PTPN3_ENST00000374541.2_Missense_Mutation_p.G644V	NM_001145369.1|NM_001145371.1	NP_001138841.1|NP_001138843.1	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	644	PDZ.				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity	p.G644V(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						CAGCACCGTCCCGCTTTCGAG	0.577000													14	59					0.000151284	0.000189601	0.001855	1	0
HCAR2	338442	broad.mit.edu	37	12	123186931	123186931	+	Silent	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr12:123186931G>T	ENST00000328880.5	-	1	959	c.900C>A	c.(898-900)tcC>tcA	p.S300S	HCAR1_ENST00000356987.2_Intron|RP11-324E6.6_ENST00000543611.1_lincRNA	NM_177551.3	NP_808219.1	Q8TDS4	HCAR2_HUMAN	hydroxycarboxylic acid receptor 2	300					negative regulation of lipid catabolic process|neutrophil apoptosis|positive regulation of adiponectin secretion|positive regulation of neutrophil apoptosis	integral to membrane|plasma membrane	nicotinic acid receptor activity|purinergic nucleotide receptor activity, G-protein coupled	p.S300S(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	15					Mepenzolate(DB04843)|Niacin(DB00627)	AGTTGGGAAAGGATGGGCTGG	0.542000													11	75					0.000673444	0.000812094	0.008291	1	0
NGRN	51335	broad.mit.edu	37	15	90808965	90808965	+	Silent	SNP	C	C	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr15:90808965C>T	ENST00000379095.3	+	1	29	c.21C>T	c.(19-21)ctC>ctT	p.L7L	NGRN_ENST00000331497.3_3'UTR|RP11-697E2.6_ENST00000561573.1_Intron	NM_001033088.1	NP_001028260.2	Q9NPE2	NGRN_HUMAN	neugrin, neurite outgrowth associated	7					neuron differentiation	extracellular region|nucleus		p.L7L(1)		kidney(2)|large_intestine(4)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11	Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514)			CCCTGAGTCTCTTGCTGGGCG	0.677000													5	24					0	0	0.001168	0	0
DCDC1	341019	broad.mit.edu	37	11	31329387	31329387	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr11:31329387C>A	ENST00000597505.1	-	2	232	c.233G>T	c.(232-234)gGc>gTc	p.G78V	DCDC1_ENST00000452803.1_Missense_Mutation_p.G78V|RP1-296L11.1_ENST00000528872.1_RNA			P59894	DCDC1_HUMAN	doublecortin domain containing 1	78					intracellular signal transduction			p.G78V(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					TCTGTTGGGGCCAAACTGAGA	0.413000													33	155					1.56442e-22	2.81497e-22	0.002445	1	0
LIMA1	51474	broad.mit.edu	37	12	50589612	50589612	+	Splice_Site	SNP	C	C	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr12:50589612C>T	ENST00000547825.1	-	2	1394		c.e2+1		LIMA1_ENST00000394943.3_Splice_Site|LIMA1_ENST00000552008.1_Splice_Site|LIMA1_ENST00000552909.1_Splice_Site|LIMA1_ENST00000552823.1_Splice_Site|LIMA1_ENST00000341247.4_Splice_Site|LIMA1_ENST00000552491.1_Splice_Site|LIMA1_ENST00000552783.1_Splice_Site	NM_001243775.1	NP_001230704.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1						actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding	p.?(1)		NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						AGAATGCTTACGGGAGTCATC	0.398000													7	101					0	0	0.003080	0	0
KDM1A	23028	broad.mit.edu	37	1	23382500	23382500	+	Missense_Mutation	SNP	T	T	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr1:23382500T>G	ENST00000400181.4	+	7	1063	c.959T>G	c.(958-960)tTt>tGt	p.F320C	KDM1A_ENST00000356634.3_Missense_Mutation_p.F300C|RP1-184J9.2_ENST00000427154.1_RNA|KDM1A_ENST00000542151.1_Missense_Mutation_p.F320C	NM_001009999.2	NP_001009999.1	O60341	KDM1A_HUMAN	lysine (K)-specific demethylase 1A	300	Demethylase activity.				blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin	androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding	p.F300C(1)|p.F320C(1)		breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						TTACAAAGTTTTGGAATGGAT	0.373000													5	94					0	0	0.001168	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117432096	117432096	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr7:117432096C>A	ENST00000160373.3	-	4	1245	c.1154G>T	c.(1153-1155)gGa>gTa	p.G385V		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	385	Pro-rich.							p.G385L(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		AGTGCTTGGTCCATTTTCCTC	0.547000													11	126					0.000978159	0.00116972	0.000978	1	0
TNFAIP2	7127	broad.mit.edu	37	14	103596402	103596402	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr14:103596402G>T	ENST00000560869.1	+	5	1678	c.1039G>T	c.(1039-1041)Gtg>Ttg	p.V347L	TNFAIP2_ENST00000451723.2_Missense_Mutation_p.V16L|TNFAIP2_ENST00000333007.1_Missense_Mutation_p.V347L			Q03169	TNAP2_HUMAN	tumor necrosis factor, alpha-induced protein 2	347					angiogenesis|cell differentiation	extracellular space		p.V347L(1)		NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	11		Melanoma(154;0.155)	Epithelial(46;0.191)			GGCTGAGGATGTGCCTCCCCA	0.652000													12	17					1.61879e-10	2.54572e-10	0.001368	1	0
PCDHA7	56141	broad.mit.edu	37	5	140215061	140215061	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr5:140215061C>G	ENST00000525929.1	+	1	1093	c.1093C>G	c.(1093-1095)Cca>Gca	p.P365A	PCDHA7_ENST00000378125.3_Missense_Mutation_p.P365A|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018910.2	NP_061733.1												p.P365A(2)		NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGACGCCCAACCAGGTACCGT	0.502000													7	147					0	0	0.001984	0	0
FZD10	11211	broad.mit.edu	37	12	130648268	130648268	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr12:130648268C>T	ENST00000539839.1	+	1	1265	c.683C>T	c.(682-684)gCg>gTg	p.A228V	FZD10_ENST00000229030.4_Missense_Mutation_p.R261C	NM_007197.3	NP_009128.1	Q9ULW2	FZD10_HUMAN	frizzled family receptor 10	0					brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	p.R261C(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		CTACCCCGAGCGCCCCATCAT	0.657000													12	109					0	0	0.001855	0	0
TEX14	56155	broad.mit.edu	37	17	56650541	56650541	+	Splice_Site	SNP	C	C	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr17:56650541C>G	ENST00000389934.3	-	24	3749		c.e24+1		TEX14_ENST00000349033.5_Splice_Site|TEX14_ENST00000240361.8_Splice_Site	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN	testis expressed 14							cytoplasm	ATP binding|protein kinase activity	p.?(2)		breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCTGTGATTACCTGGGCTGAG	0.502000													15	155					0	0	0.002450	0	0
CEP164	22897	broad.mit.edu	37	11	117279605	117279605	+	Splice_Site	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr11:117279605G>T	ENST00000278935.3	+	29	3756		c.e29-1		CEP164_ENST00000533706.1_Splice_Site	NM_014956.4	NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa						cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus		p.?(1)		breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		TTACCCCACAGGCCTCAGATG	0.527000													6	34					2.7689e-08	4.07525e-08	0.001984	1	0
FAM131A	131408	broad.mit.edu	37	3	184060021	184060021	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr3:184060021G>C	ENST00000310585.4	+	1	1764	c.400G>C	c.(400-402)Gct>Cct	p.A134P	FAM131A_ENST00000418281.1_Missense_Mutation_p.A42P|EIF2B5_ENST00000444495.1_Intron|FAM131A_ENST00000383847.2_Missense_Mutation_p.A165P|FAM131A_ENST00000453072.1_Missense_Mutation_p.A80P|FAM131A_ENST00000450976.1_Missense_Mutation_p.A80P|FAM131A_ENST00000340957.5_Missense_Mutation_p.A80P			Q6UXB0	F131A_HUMAN	family with sequence similarity 131, member A	134						extracellular region		p.A134P(1)|p.A165P(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(9)|skin(1)	14	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CGAACAAGAGGCTCGCTTTGC	0.498000													3	106					0	0	0.004672	0	0
ZSCAN1	284312	broad.mit.edu	37	19	58551840	58551840	+	Silent	SNP	C	C	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr19:58551840C>T	ENST00000282326.1	+	4	640	c.393C>T	c.(391-393)gtC>gtT	p.V131V		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	131					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.V131V(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		TGGACTCGGTCGAACCCCAGG	0.612000													25	132					0	0	0.001786	0	0
FTCD	10841	broad.mit.edu	37	21	47571634	47571634	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr21:47571634C>A	ENST00000397748.1	-	5	517	c.474G>T	c.(472-474)tgG>tgT	p.W158C	FTCD_ENST00000359679.2_Missense_Mutation_p.W158C|FTCD_ENST00000397743.1_Missense_Mutation_p.W158C|FTCD_ENST00000355384.2_Missense_Mutation_p.W158C|FTCD_ENST00000291670.5_Missense_Mutation_p.W158C|FTCD_ENST00000397746.3_Missense_Mutation_p.W158C|FTCD-AS1_ENST00000446649.1_RNA|FTCD_ENST00000498355.2_5'UTR			O95954	FTCD_HUMAN	formimidoyltransferase cyclodeaminase	158	Formiminotransferase N-subdomain (By similarity).				folic acid-containing compound metabolic process|histidine catabolic process	centriole|cytosol|Golgi apparatus	folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity	p.W158C(1)		endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3)	19	Breast(49;0.214)			Colorectal(79;0.235)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	AGTCGGGCGCCCAGTCGGCCT	0.672000													10	35					2.17888e-05	2.85542e-05	0.006214	1	0
CYP2C19	1557	broad.mit.edu	37	10	96612523	96612523	+	Missense_Mutation	SNP	G	G	T	rs138112316		TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr10:96612523G>T	ENST00000371321.3	+	9	1407	c.1325G>T	c.(1324-1326)cGc>cTc	p.R442L	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760.1	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	442			R -> C (in allele CYP2C19*16; lowered catalytic activity).		exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity	p.R442H(2)|p.R442L(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	GGCCTGGCCCGCATGGAGCTG	0.433000													8	112					7.48243e-07	1.04245e-06	0.006214	1	0
SULT1C3	442038	broad.mit.edu	37	2	108875201	108875201	+	Missense_Mutation	SNP	T	T	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr2:108875201T>A	ENST00000329106.2	+	5	538	c.538T>A	c.(538-540)Tcc>Acc	p.S180T	SULT1C3_ENST00000376700.1_Missense_Mutation_p.S180T	NM_001008743.1	NP_001008743.1	Q6IMI6	ST1C3_HUMAN	sulfotransferase family, cytosolic, 1C, member 3	180						cytoplasm	alcohol sulfotransferase activity	p.S180T(1)		breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						TGTTGGCGGGTCCTGGTTTGA	0.453000													5	72					0	0	0.000602	0	0
OR5AN1	390195	broad.mit.edu	37	11	59132182	59132182	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr11:59132182C>A	ENST00000313940.2	+	1	298	c.251C>A	c.(250-252)tCc>tAc	p.S84Y		NM_001004729.1	NP_001004729.1	Q8NGI8	O5AN1_HUMAN	olfactory receptor, family 5, subfamily AN, member 1	84					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S84Y(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	21						AAGATGCTCTCCAACCTCTTA	0.428000													39	145					1.49673e-21	2.6764e-21	0.006230	1	0
PRF1	5551	broad.mit.edu	37	10	72360525	72360525	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr10:72360525C>A	ENST00000441259.1	-	2	294	c.134G>T	c.(133-135)gGg>gTg	p.G45V	PRF1_ENST00000373209.2_Missense_Mutation_p.G45V	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	45	MACPF.				apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity	p.G45V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						CACACCCTCCCCGGCCAGCCA	0.677000			M			"""various leukaemia, lymphoma"""	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis				7	58					0.00307968	0.00359296	0.003080	1	0
PCDH19	57526	broad.mit.edu	37	X	99663320	99663320	+	Silent	SNP	C	C	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chrX:99663320C>G	ENST00000373034.4	-	1	1951	c.276G>C	c.(274-276)ctG>ctC	p.L92L	PCDH19_ENST00000255531.7_Silent_p.L92L|PCDH19_ENST00000420881.2_Silent_p.L92L	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	92	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.L92L(1)		breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						TCTGGCGGCACAGCAGATCAC	0.552000													17	51					0	0	0.004007	0	0
ABL2	27	broad.mit.edu	37	1	179095584	179095584	+	Silent	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr1:179095584C>A	ENST00000502732.1	-	4	818	c.615G>T	c.(613-615)ggG>ggT	p.G205G	ABL2_ENST00000504405.1_Silent_p.G169G|ABL2_ENST00000344730.3_Silent_p.G190G|ABL2_ENST00000367623.4_Silent_p.G184G|ABL2_ENST00000392043.3_Silent_p.G184G|ABL2_ENST00000507173.1_Silent_p.G184G|ABL2_ENST00000512653.1_Silent_p.G190G|ABL2_ENST00000511413.1_Silent_p.G205G|ABL2_ENST00000408940.3_Silent_p.G169G	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	c-abl oncogene 2, non-receptor tyrosine kinase	205	SH2.				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.G205G(1)|p.G169G(1)		breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	TGGACAGCTGCCCAGGGCTAC	0.537000			T	ETV6	AML								27	84					2.79863e-10	4.37715e-10	0.004656	1	0
FANCM	57697	broad.mit.edu	37	14	45669130	45669130	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr14:45669130C>G	ENST00000267430.5	+	23	6151	c.6066C>G	c.(6064-6066)atC>atG	p.I2022M	FANCM_ENST00000542564.2_Missense_Mutation_p.I1996M	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	2022	Interaction with FAAP24 and EME1.				DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding	p.I2022M(1)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						CTGAGGAGATCTATAGATATA	0.338000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				8	128					0	0	0.003080	0	0
SLFN12	55106	broad.mit.edu	37	17	33749524	33749524	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr17:33749524T>C	ENST00000394562.1	-	4	1047	c.524A>G	c.(523-525)aAt>aGt	p.N175S	SLFN12_ENST00000304905.5_Missense_Mutation_p.N175S|SLFN12_ENST00000452764.3_Missense_Mutation_p.N175S			Q8IYM2	SLN12_HUMAN	schlafen family member 12	175							ATP binding	p.N175S(1)		breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CTTCATGTTATTTTCTTCTTG	0.383000													6	97					0	0	0.001168	0	0
ITSN1	6453	broad.mit.edu	37	21	35183319	35183319	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr21:35183319G>C	ENST00000381318.3	+	21	2648	c.2360G>C	c.(2359-2361)gGa>gCa	p.G787A	AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000437442.2_Missense_Mutation_p.G782A|ITSN1_ENST00000399353.1_Missense_Mutation_p.G745A|ITSN1_ENST00000399367.3_Missense_Mutation_p.G782A|ITSN1_ENST00000381291.4_Missense_Mutation_p.G787A|ITSN1_ENST00000399349.1_Missense_Mutation_p.G782A|ITSN1_ENST00000399326.3_Missense_Mutation_p.G782A|ITSN1_ENST00000399352.1_Missense_Mutation_p.G782A|ITSN1_ENST00000399355.2_Missense_Mutation_p.G787A|ITSN1_ENST00000399338.4_Missense_Mutation_p.G782A|ITSN1_ENST00000379960.5_Missense_Mutation_p.G782A|ITSN1_ENST00000381285.4_Missense_Mutation_p.G787A	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	787	SH3 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity	p.G787A(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						TGGCTTGGAGGAGAATTAAAA	0.463000													49	140					0	0	0.003610	0	0
ZNF208	7757	broad.mit.edu	37	19	22157095	22157095	+	Missense_Mutation	SNP	A	A	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr19:22157095A>T	ENST00000397126.4	-	4	889	c.741T>A	c.(739-741)caT>caA	p.H247Q	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208									p.H247Q(3)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				GAATTACCTTATGTTTAGTAA	0.353000													4	56					0	0	0.000248	0	0
CRISP3	10321	broad.mit.edu	37	6	49698963	49698963	+	Splice_Site	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr6:49698963C>A	ENST00000433368.2	-	7	661	c.590_splice	c.e7-1	p.G198_splice	CRISP3_ENST00000263045.4_Splice_Site_p.G188_splice|CRISP3_ENST00000371159.4_Splice_Site_p.G206_splice|CRISP3_ENST00000393666.1_Splice_Site_p.G175_splice|CRISP3_ENST00000423399.2_Splice_Site_p.G85_splice	NM_001190986.1	NP_001177915.1	P54108	CRIS3_HUMAN	cysteine-rich secretory protein 3	175					innate immune response	proteinaceous extracellular matrix|specific granule		p.G175C(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			GCCCAATTACCACTGAAATTT	0.333000													11	70					0.000673444	0.000812094	0.008291	1	0
DCAF8	50717	broad.mit.edu	37	1	160210023	160210023	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr1:160210023C>T	ENST00000368073.3	-	4	621	c.187G>A	c.(187-189)Gaa>Aaa	p.E63K	DCAF8_ENST00000368074.1_Missense_Mutation_p.E63K|DCAF8_ENST00000556710.1_Missense_Mutation_p.E217K|DCAF8_ENST00000461888.1_5'UTR|DCAF8_ENST00000326837.2_Missense_Mutation_p.E63K			Q5TAQ9	DCAF8_HUMAN	DDB1 and CUL4 associated factor 8	63						CUL4 RING ubiquitin ligase complex	protein binding	p.E63K(1)|p.E217K(1)		cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(16)|skin(3)|upper_aerodigestive_tract(1)	33						CCTCGACTTTCTGTGCTGGTG	0.522000													4	70					0	0	0.000602	0	0
CT47B1	643311	broad.mit.edu	37	X	120008751	120008751	+	Splice_Site	SNP	C	C	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chrX:120008751C>G	ENST00000371311.3	-	1	1028	c.775_splice	c.e1+1	p.E258_splice		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	258										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						CCCCCTTACCCTCGGGGGCCA	0.687000													34	151					0	0	0.003755	0	0
CTDP1	9150	broad.mit.edu	37	18	77455261	77455261	+	Silent	SNP	G	G	T	rs139441883		TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr18:77455261G>T	ENST00000299543.7	+	2	498	c.351G>T	c.(349-351)ccG>ccT	p.P117P	CTDP1_ENST00000075430.7_Silent_p.P117P	NM_001202504.1|NM_004715.4	NP_001189433.1|NP_004706.3	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1	117					positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity	p.P117P(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		GCAGCCACCCGGTTGTCATGA	0.522000													12	71					2.80697e-09	4.27375e-09	0.000978	1	0
TTF1	7270	broad.mit.edu	37	9	135266077	135266077	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr9:135266077G>A	ENST00000334270.2	-	7	2168	c.2129C>T	c.(2128-2130)tCa>tTa	p.S710L		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	710	Myb-like 2.				negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding	p.S710L(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		CCGAACAATTGATAGGCAACT	0.403000													8	244					0	0	0.004482	0	0
SPATA31A6	389730	broad.mit.edu	37	9	43625471	43625471	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr9:43625471C>T	ENST00000332857.6	-	4	3244	c.3216G>A	c.(3214-3216)atG>atA	p.M1072I		NM_001145196.1	NP_001138668.1			SPATA31 subfamily A, member 6									p.M1072I(1)									TTCTGGCTGCCATGAGGTCAT	0.542000													25	294					0	0	0.004656	0	0
SLC6A15	55117	broad.mit.edu	37	12	85285712	85285712	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr12:85285712G>C	ENST00000450363.3	-	2	646	c.188C>G	c.(187-189)gCt>gGt	p.A63G	SLC6A15_ENST00000551388.1_Intron|SLC6A15_ENST00000266682.5_Missense_Mutation_p.A63G|SLC6A15_ENST00000552192.1_Intron	NM_018057.6	NP_060527.2	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	63					cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	p.A63G(2)		kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						ACTGTTCCAAGCTGGTCTTTC	0.418000													13	131					0	0	0.001368	0	0
FOXP2	93986	broad.mit.edu	37	7	114304340	114304340	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr7:114304340G>C	ENST00000408937.3	+	17	2301	c.1927G>C	c.(1927-1929)Gag>Cag	p.E643Q	FOXP2_ENST00000393494.2_Missense_Mutation_p.E618Q|FOXP2_ENST00000393489.3_Missense_Mutation_p.E526Q|FOXP2_ENST00000350908.4_Missense_Mutation_p.E618Q|FOXP2_ENST00000393498.2_Missense_Mutation_p.E597Q|FOXP2_ENST00000393491.3_Missense_Mutation_p.E433Q|FOXP2_ENST00000403559.4_Missense_Mutation_p.E635Q|FOXP2_ENST00000393500.3_3'UTR	NM_001172766.2|NM_014491.3|NM_148898.3	NP_001166237.1|NP_055306.1|NP_683696.2	O15409	FOXP2_HUMAN	forkhead box P2	618					camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	p.E643*(1)|p.E643Q(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						TGCCTTGGCAGAGAGCAGTTT	0.388000													3	37					0	0	0.001168	0	0
FAM179A	165186	broad.mit.edu	37	2	29222107	29222107	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr2:29222107G>T	ENST00000379558.4	+	4	551	c.200G>T	c.(199-201)cGt>cTt	p.R67L	FAM179A_ENST00000403861.2_Missense_Mutation_p.R67L	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	67							binding	p.R67L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CAGCTCCTGCGTGGACTCGGA	0.617000													3	20					6.4e-05	8.12923e-05	0.004672	1	0
U2SURP	23350	broad.mit.edu	37	3	142741358	142741358	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr3:142741358G>T	ENST00000473835.2	+	11	962	c.872G>T	c.(871-873)tGc>tTc	p.C291F	U2SURP_ENST00000493598.2_Missense_Mutation_p.C290F|U2SURP_ENST00000397933.2_5'UTR	NM_001080415.1	NP_001073884.1	O15042	SR140_HUMAN	U2 snRNP-associated SURP domain containing	291	RRM.				RNA processing	nucleus	nucleotide binding|RNA binding	p.C291F(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						GAAATGCTGTGCCAAGAATTT	0.348000													5	151					8.12818e-05	0.000102315	0.001984	1	0
VEGFC	7424	broad.mit.edu	37	4	177649043	177649043	+	Silent	SNP	C	C	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr4:177649043C>T	ENST00000280193.2	-	3	856	c.441G>A	c.(439-441)gcG>gcA	p.A147A	VEGFC_ENST00000507638.1_5'UTR	NM_005429.2	NP_005420.1	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	147					angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity	p.A147A(1)		biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		AGGTGTTTGTCGCGACTCCAA	0.498000													15	69					0	0	0.004990	0	0
LCK	3932	broad.mit.edu	37	1	32745303	32745303	+	Silent	SNP	A	A	C			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr1:32745303A>C	ENST00000333070.4	+	10	1186	c.1086A>C	c.(1084-1086)tcA>tcC	p.S362S	LCK_ENST00000373564.3_Silent_p.S339S|LCK_ENST00000336890.5_Silent_p.S332S	NM_001042771.1	NP_001036236.1	P06239	LCK_HUMAN	lymphocyte-specific protein tyrosine kinase	332	Protein kinase.				activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|T cell costimulation|T cell differentiation|T cell receptor signaling pathway|viral reproduction	cytosol|Golgi apparatus|membrane raft|pericentriolar material|plasma membrane	ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity|SH2 domain binding	p.S339S(1)|p.S332S(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)	AGACCCCTTCAGGCATCAAGT	0.577000			T	TRB@	T-ALL								21	219					0	0	0.002299	0	0
ANTXR1	84168	broad.mit.edu	37	2	69271872	69271872	+	Splice_Site	SNP	A	A	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr2:69271872A>T	ENST00000303714.4	+	3	546		c.e3-1		ANTXR1_ENST00000409349.3_Splice_Site|ANTXR1_ENST00000409829.3_Splice_Site	NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1						actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity	p.?(2)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						TTTCCTTTCCAGCCCACAGTT	0.463000									Familial Infantile Hemangioma				4	67					0	0	0.001168	0	0
OR8S1	341568	broad.mit.edu	37	12	48919525	48919525	+	Silent	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr12:48919525G>T	ENST00000310194.1	+	1	111	c.111G>T	c.(109-111)ctG>ctT	p.L37L	OR8S1_ENST00000551654.1_Intron	NM_001005203.2	NP_001005203.2	Q8NH09	OR8S1_HUMAN	olfactory receptor, family 8, subfamily S, member 1	37					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L37L(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						TTTACCTCCTGACCATAATGG	0.512000													20	196					0.000175454	0.000217049	0.001523	1	0
RYR1	6261	broad.mit.edu	37	19	38997148	38997148	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr19:38997148C>G	ENST00000355481.4	+	56	8785	c.8654C>G	c.(8653-8655)aCg>aGg	p.T2885R	RYR1_ENST00000359596.3_Missense_Mutation_p.T2885R|RYR1_ENST00000360985.3_Missense_Mutation_p.T2885R	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2885	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.T2885R(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TACCACAACACGTGGGGACGG	0.582000													5	32					0	0	0.001168	0	0
SVOP	55530	broad.mit.edu	37	12	109306415	109306415	+	Silent	SNP	G	G	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr12:109306415G>A	ENST00000299134.5	-	14	1346	c.1347C>T	c.(1345-1347)gcC>gcT	p.A449A		NM_018711.2	NP_061181.1	Q8N4V2	SVOP_HUMAN	SV2 related protein homolog (rat)	0						cell junction|integral to membrane|synaptic vesicle membrane	ion transmembrane transporter activity	p.G449G(2)		breast(2)|lung(4)	6						TGCAGTCCTCGGCCTTTGGTC	0.607000													8	87					0	0	0.004482	0	0
ELAC2	60528	broad.mit.edu	37	17	12905609	12905609	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr17:12905609G>C	ENST00000338034.4	-	14	1525	c.1286C>G	c.(1285-1287)cCc>cGc	p.P429R	ELAC2_ENST00000426905.3_Missense_Mutation_p.P389R|ELAC2_ENST00000395962.2_Missense_Mutation_p.P410R	NM_018127.6|NM_173717.1	NP_060597.4|NP_776065.1	Q9BQ52	RNZ2_HUMAN	elaC ribonuclease Z 2	429					tRNA processing	nucleus	endonuclease activity|metal ion binding|protein binding	p.P429R(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						CTCCCTCCTGGGACGGAGCTG	0.493000													5	58					0	0	0.001984	0	0
CFTR	1080	broad.mit.edu	37	7	117149094	117149094	+	Missense_Mutation	SNP	G	G	T	rs121909025		TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr7:117149094G>T	ENST00000003084.6	+	3	303	c.171G>T	c.(169-171)tgG>tgT	p.W57C	CFTR_ENST00000454343.1_Missense_Mutation_p.W57C	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	57			W -> G (in CF).		respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding	p.W57C(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	GCAGAGAATGGGATAGAGAGC	0.333000									Cystic Fibrosis				11	144					0.000978159	0.00116972	0.000978	1	0
LYSMD3	116068	broad.mit.edu	37	5	89815303	89815303	+	Splice_Site	SNP	T	T	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr5:89815303T>A	ENST00000315948.6	-	3	400		c.e3-2		LYSMD3_ENST00000500869.2_Intron|LYSMD3_ENST00000509384.1_Intron	NM_198273.1	NP_938014.1	Q7Z3D4	LYSM3_HUMAN	LysM, putative peptidoglycan-binding, domain containing 3						cell wall macromolecule catabolic process	integral to membrane		p.?(1)		breast(2)|large_intestine(1)|lung(2)|prostate(1)|urinary_tract(1)	7		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;1.94e-31)|Epithelial(54;5.22e-26)|all cancers(79;2.42e-22)		ATCTGCTACCTGTGGGGGGGA	0.353000													4	38					0	0	0.000248	0	0
SPNS3	201305	broad.mit.edu	37	17	4356383	4356383	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr17:4356383G>T	ENST00000355530.2	+	8	1276	c.996G>T	c.(994-996)agG>agT	p.R332S	SPNS3_ENST00000576069.1_3'UTR|SPNS3_ENST00000333476.2_Missense_Mutation_p.R205S	NM_182538.4	NP_872344.3	Q6ZMD2	SPNS3_HUMAN	spinster homolog 3 (Drosophila)	332					lipid transport|transmembrane transport	integral to membrane		p.R332S(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						CTGCGAGGAGGTACAAGAAAG	0.607000													18	125					2.94398e-08	4.32186e-08	0.007413	1	0
FPR2	2358	broad.mit.edu	37	19	52272055	52272055	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr19:52272055C>G	ENST00000598776.1	+	2	916	c.144C>G	c.(142-144)atC>atG	p.I48M	FPR2_ENST00000598953.1_Missense_Mutation_p.I48M|FPR2_ENST00000340023.6_Missense_Mutation_p.I48M	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	48					cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity	p.I48M(1)		endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						GGCTTGTGATCTGGGTGGCTG	0.557000													15	88					0	0	0.004007	0	0
KCNK2	3776	broad.mit.edu	37	1	215342594	215342594	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr1:215342594C>G	ENST00000444842.2	+	4	678	c.528C>G	c.(526-528)atC>atG	p.I176M	KCNK2_ENST00000391894.2_Missense_Mutation_p.I161M|KCNK2_ENST00000391895.2_Missense_Mutation_p.I172M	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	176							outward rectifier potassium channel activity	p.I161M(1)|p.I176M(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)	TCTGTATCATCTATGCCTTAC	0.373000													6	100					0	0	0.001984	0	0
CCDC144A	9720	broad.mit.edu	37	17	16612733	16612733	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr17:16612733G>C	ENST00000443444.2	+	5	1502	c.1362G>C	c.(1360-1362)atG>atC	p.M454I	RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.M454I|CCDC144A_ENST00000360524.8_Missense_Mutation_p.M454I|CCDC144A_ENST00000340621.5_Missense_Mutation_p.M453I|CCDC144A_ENST00000399273.1_Missense_Mutation_p.M454I|CCDC144A_ENST00000456009.1_Intron			A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	454								p.M454I(1)									CAAAAAATATGAACCAAAATA	0.353000													10	67					0	0	0.008291	0	0
TUBB4A	10382	broad.mit.edu	37	19	6495433	6495433	+	Silent	SNP	G	G	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr19:6495433G>A	ENST00000264071.2	-	4	1448	c.1077C>T	c.(1075-1077)cgC>cgT	p.R359R	TUBB4A_ENST00000540257.1_Silent_p.R359R			P04350	TBB4_HUMAN	tubulin, beta 4A class IVa	359					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	p.R359R(1)									TCTTCAGGCCGCGGGGCGGGA	0.622000													41	167					0	0	0.007835	0	0
KRTAP8-1	337879	broad.mit.edu	37	21	32185435	32185435	+	Missense_Mutation	SNP	T	T	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr21:32185435T>A	ENST00000329621.4	-	1	135	c.104A>T	c.(103-105)tAc>tTc	p.Y35F		NM_175857.3	NP_787053.1	Q8IUC2	KRA81_HUMAN	keratin associated protein 8-1	35	12 X 2 AA repeats of G-[YCGS].					intermediate filament		p.Y35F(1)		central_nervous_system(1)|large_intestine(1)|lung(4)	6						CACTGGAGAGTAGGTGCTGCC	0.572000													14	45					0	0	0.001855	0	0
BANK1	55024	broad.mit.edu	37	4	102942739	102942739	+	Silent	SNP	A	A	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr4:102942739A>G	ENST00000504592.1	+	12	1648	c.1230A>G	c.(1228-1230)acA>acG	p.T410T	BANK1_ENST00000322953.4_Silent_p.T425T|BANK1_ENST00000428908.1_Silent_p.T292T|BANK1_ENST00000510950.1_3'UTR|BANK1_ENST00000508653.1_Silent_p.T292T|BANK1_ENST00000444316.2_Silent_p.T395T|RP11-498M5.2_ENST00000505091.1_RNA			Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	425					B cell activation			p.T425T(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		CATTTTCCACATATATTCCTT	0.244000													3	18					0	0	0.004672	0	0
OR10K2	391107	broad.mit.edu	37	1	158390091	158390091	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr1:158390091G>A	ENST00000314902.2	-	1	565	c.566C>T	c.(565-567)tCt>tTt	p.S189F		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	189					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S189F(1)		NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					GTTATGGTGAGATGCCAGCTT	0.438000													4	79					0	0	0.000248	0	0
PSG5	5673	broad.mit.edu	37	19	43679369	43679369	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr19:43679369G>C	ENST00000404580.1	-	4	1050	c.962C>G	c.(961-963)tCt>tGt	p.S321C	PSG5_ENST00000407356.1_Missense_Mutation_p.S321C|PSG5_ENST00000342951.6_Missense_Mutation_p.S321C|PSG5_ENST00000599812.1_Missense_Mutation_p.S414C|PSG5_ENST00000366175.3_Missense_Mutation_p.S321C|PSG5_ENST00000407568.1_Intron			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	321					female pregnancy	extracellular region		p.S321C(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				CCACTTACCAGAGACTTCGAC	0.453000													38	355					0	0	0.003610	0	0
EPB41L3	23136	broad.mit.edu	37	18	5395092	5395092	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr18:5395092C>A	ENST00000341928.2	-	21	3467	c.3127G>T	c.(3127-3129)Ggg>Tgg	p.G1043W	EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000542146.1_Missense_Mutation_p.G348W|EPB41L3_ENST00000427684.2_Missense_Mutation_p.G340W|EPB41L3_ENST00000544123.1_Missense_Mutation_p.G874W|EPB41L3_ENST00000540638.2_Missense_Mutation_p.G821W|EPB41L3_ENST00000400111.3_Missense_Mutation_p.G821W|EPB41L3_ENST00000342933.3_Missense_Mutation_p.G1043W	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	1043	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	p.G1043W(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						TCTGCATCCCCCGTGATGACT	0.448000													20	94					1.28384e-07	1.84231e-07	0.001882	1	0
CDC14A	8556	broad.mit.edu	37	1	100950007	100950007	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr1:100950007G>T	ENST00000370124.3	+	11	1590	c.1137G>T	c.(1135-1137)gaG>gaT	p.E379D	CDC14A_ENST00000544534.1_Splice_Site_p.E379_splice|RP5-837M10.4_ENST00000432210.1_RNA|CDC14A_ENST00000370125.2_3'UTR|CDC14A_ENST00000361544.6_Splice_Site_p.E379_splice|CDC14A_ENST00000336454.3_Splice_Site_p.E379_splice|CDC14A_ENST00000542213.1_Splice_Site_p.E321_splice	NM_033313.2	NP_201570.1	Q9UNH5	CC14A_HUMAN	cell division cycle 14A	379					cell cycle|cell division|cell proliferation	centrosome|nucleus|spindle	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.E379D(1)		breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		GATTTGGAGAGGTAAGTTTTC	0.358000													6	73					8.12818e-05	0.000102315	0.001984	1	0
TRAIP	10293	broad.mit.edu	37	3	49866942	49866942	+	Splice_Site	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr3:49866942C>A	ENST00000331456.2	-	14	1350		c.e14-1		TRAIP_ENST00000469027.1_Splice_Site	NM_005879.2	NP_005870.2	Q9BWF2	TRAIP_HUMAN	TRAF interacting protein						cell proliferation|induction of apoptosis	perinuclear region of cytoplasm	protein binding|zinc ion binding	p.?(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTGTCCTTACCTAGGGTGGAA	0.577000													4	54					0.000602214	0.000729264	0.000602	1	0
PARP16	54956	broad.mit.edu	37	15	65553264	65553264	+	Silent	SNP	T	T	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr15:65553264T>A	ENST00000261888.6	-	5	1237	c.792A>T	c.(790-792)cgA>cgT	p.R264R	PARP16_ENST00000444347.2_Silent_p.R149R	NM_017851.4	NP_060321.3	Q8N5Y8	PAR16_HUMAN	poly (ADP-ribose) polymerase family, member 16	264	PARP catalytic.					integral to membrane	NAD+ ADP-ribosyltransferase activity	p.R264R(1)		kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						GGTACTTCACTCGCAGCAGCT	0.483000													24	129					0	0	0.003330	0	0
ECE2	9718	broad.mit.edu	37	3	183967486	183967486	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr3:183967486G>A	ENST00000402825.3	+	1	4	c.4G>A	c.(4-6)Gcc>Acc	p.A2T	EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000324557.4_Missense_Mutation_p.A2T	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	2	Methyltransferase-like region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity	p.A2T(2)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TGAGAGCATGGCCTCTCCAGG	0.682000											OREG0015944	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	21					0	0	0.000248	0	0
C14orf159	80017	broad.mit.edu	37	14	91626659	91626659	+	Silent	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr14:91626659G>T	ENST00000518868.1	+	6	711	c.21G>T	c.(19-21)ctG>ctT	p.L7L	C14orf159_ENST00000520328.1_Silent_p.L7L|C14orf159_ENST00000519019.1_Silent_p.L7L|C14orf159_ENST00000525393.2_5'UTR|C14orf159_ENST00000518665.2_Silent_p.L7L|C14orf159_ENST00000523816.1_Silent_p.L7L|C14orf159_ENST00000428926.2_Silent_p.L7L|C14orf159_ENST00000412671.2_Silent_p.L7L|C14orf159_ENST00000523771.1_Silent_p.L7L|C14orf159_ENST00000522322.1_Silent_p.L7L|C14orf159_ENST00000298858.4_Silent_p.L7L|C14orf159_ENST00000256324.10_Silent_p.L7L|C14orf159_ENST00000521077.2_Silent_p.L7L|C14orf159_ENST00000517877.1_Silent_p.L7L			Q7Z3D6	CN159_HUMAN	chromosome 14 open reading frame 159	7						mitochondrion		p.L7L(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0191)|all_epithelial(191;0.241)		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)		CACTCCACCTGAGGTCCCGCC	0.483000													20	70					3.7963e-18	6.68429e-18	0.003330	1	0
GCG	2641	broad.mit.edu	37	2	163004007	163004007	+	Missense_Mutation	SNP	T	T	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr2:163004007T>G	ENST00000418842.2	-	3	364	c.110A>C	c.(109-111)cAg>cCg	p.Q37P	GCG_ENST00000375497.3_Missense_Mutation_p.Q37P	NM_002054.4	NP_002045.1	P01275	GLUC_HUMAN	glucagon	37					cell proliferation|cellular response to glucagon stimulus|energy reserve metabolic process|feeding behavior|regulation of insulin secretion	plasma membrane|soluble fraction	hormone activity	p.Q37P(2)		breast(1)|central_nervous_system(1)|large_intestine(3)|lung(9)	14					Exenatide(DB01276)|Phentolamine(DB00692)	TGGGTCTGCCTGGGAAGCTGA	0.463000													19	252					0	0	0.008871	0	0
PCDHB3	56132	broad.mit.edu	37	5	140482066	140482066	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr5:140482066G>T	ENST00000231130.2	+	1	1833	c.1833G>T	c.(1831-1833)gaG>gaT	p.E611D		NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		611	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.E611D(1)		NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGCCACGGAGCCCGGGCTGT	0.706000													8	99					1.06961e-07	1.54649e-07	0.003080	1	0
ODF2	4957	broad.mit.edu	37	9	131246279	131246279	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr9:131246279G>T	ENST00000303890.5	+	13	1563	c.978G>T	c.(976-978)caG>caT	p.Q326H	ODF2_ENST00000546203.1_Missense_Mutation_p.Q331H|ODF2_ENST00000372807.5_Missense_Mutation_p.Q345H|ODF2_ENST00000351030.3_Missense_Mutation_p.Q345H|ODF2_ENST00000372791.3_Missense_Mutation_p.Q331H|ODF2_ENST00000372796.4_Missense_Mutation_p.Q350H|ODF2_ENST00000372814.3_Missense_Mutation_p.Q394H|ODF2_ENST00000444119.2_Missense_Mutation_p.Q326H|ODF2_ENST00000448249.3_Missense_Mutation_p.Q269H|ODF2_ENST00000434106.2_Missense_Mutation_p.Q350H|ODF2_ENST00000393533.2_Missense_Mutation_p.Q350H	NM_002540.4	NP_002531.3	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	350					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity	p.Q326H(1)|p.Q394H(1)|p.Q350H(1)		autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						GGCATTTGCAGGCACAGCTTC	0.527000													8	80					2.74318e-10	4.30215e-10	0.006214	1	0
PLXNA4	91584	broad.mit.edu	37	7	132192544	132192544	+	Missense_Mutation	SNP	A	A	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr7:132192544A>T	ENST00000359827.3	-	2	1871	c.909T>A	c.(907-909)agT>agA	p.S303R	PLXNA4_ENST00000423507.2_Missense_Mutation_p.S303R|PLXNA4_ENST00000378539.5_Missense_Mutation_p.S303R|PLXNA4_ENST00000321063.4_Missense_Mutation_p.S303R			Q9HCM2	PLXA4_HUMAN	plexin A4	303	Sema.					integral to membrane|intracellular|plasma membrane		p.S303R(4)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						ACTCCACCCCACTGCGCTCAC	0.587000													8	20					0	0	0.003080	0	0
URGCP	55665	broad.mit.edu	37	7	43927062	43927062	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr7:43927062C>A	ENST00000453200.1	-	3	557	c.64G>T	c.(64-66)Gcc>Tcc	p.A22S	RP5-1165K10.1_ENST00000603700.1_Missense_Mutation_p.A13S|URGCP_ENST00000446958.1_Missense_Mutation_p.A13S|URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000447717.3_5'UTR|URGCP_ENST00000402306.3_Missense_Mutation_p.A13S|URGCP_ENST00000443736.1_5'UTR|URGCP_ENST00000336086.6_5'UTR|URGCP_ENST00000223341.7_5'UTR			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	22					cell cycle	centrosome|nucleus	GTP binding	p.A22S(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						ATTTCTGGGGCTACTTCTCCC	0.403000													9	62					2.17888e-05	2.85542e-05	0.006214	1	0
COPS3	8533	broad.mit.edu	37	17	17152296	17152296	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr17:17152296G>A	ENST00000539941.2	-	10	1229	c.1021C>T	c.(1021-1023)Cat>Tat	p.H341Y	COPS3_ENST00000268717.5_Missense_Mutation_p.H361Y|COPS3_ENST00000439936.2_Missense_Mutation_p.H283Y	NM_001199125.1	NP_001186054.1	Q9UNS2	CSN3_HUMAN	COP9 signalosome subunit 3	361	PCI.				cullin deneddylation|response to light stimulus|signal transduction	cytoplasm|signalosome	protein binding	p.H361Y(1)		NS(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						GGGTTATCATGGAAACTGACC	0.343000													9	112					0	0	0.000978	0	0
WEE2	494551	broad.mit.edu	37	7	141408876	141408876	+	Silent	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr7:141408876C>A	ENST00000397541.2	+	1	724	c.318C>A	c.(316-318)ccC>ccA	p.P106P	WEE2-AS1_ENST00000488785.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)	106					egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity	p.P106P(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					AGCTGCTGCCCAGTGACAGCC	0.522000													16	104					3.45872e-05	4.49164e-05	0.004007	1	0
BPIFB2	80341	broad.mit.edu	37	20	31609550	31609550	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr20:31609550C>G	ENST00000170150.3	+	15	1475	c.1280C>G	c.(1279-1281)gCc>gGc	p.A427G		NM_025227.1	NP_079503.1	Q8N4F0	BPIL1_HUMAN	BPI fold containing family B, member 2	427						extracellular region	lipid binding	p.A427G(1)									ATGGGAATTGCCCTCCCTGGT	0.567000													21	87					0	0	0.002299	0	0
SRCAP	10847	broad.mit.edu	37	16	30750800	30750800	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr16:30750800G>T	ENST00000262518.4	+	34	9824	c.9439G>T	c.(9439-9441)Ggg>Tgg	p.G3147W	SRCAP_ENST00000395059.2_Missense_Mutation_p.G3085W|SRCAP_ENST00000344771.4_Missense_Mutation_p.G2989W	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	3147					interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	p.G3147W(1)		NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CCCAGTTGGTGGGAGTCCTGG	0.642000													6	26					5.18039e-06	6.98015e-06	0.003080	1	0
USP35	57558	broad.mit.edu	37	11	77921493	77921493	+	Silent	SNP	C	C	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr11:77921493C>T	ENST00000529308.1	+	10	2853	c.2592C>T	c.(2590-2592)taC>taT	p.Y864Y	USP35_ENST00000530535.1_3'UTR|USP35_ENST00000530267.1_Silent_p.Y432Y|USP35_ENST00000526425.1_Silent_p.Y595Y|USP35_ENST00000441408.2_Silent_p.Y450Y	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	864					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	p.Y620Y(1)|p.Y864Y(1)		endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			GTCACTACTACTGCTATGCCC	0.632000													8	131					0	0	0.004482	0	0
KCNC2	3747	broad.mit.edu	37	12	75444222	75444222	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr12:75444222C>G	ENST00000549446.1	-	3	2243	c.1563G>C	c.(1561-1563)caG>caC	p.Q521H	KCNC2_ENST00000298972.1_Missense_Mutation_p.Q521H|KCNC2_ENST00000350228.2_Missense_Mutation_p.Q521H|KCNC2_ENST00000548243.1_5'UTR|KCNC2_ENST00000540018.1_Missense_Mutation_p.Q521H|KCNC2_ENST00000341669.3_Missense_Mutation_p.Q521H|KCNC2_ENST00000393288.2_Missense_Mutation_p.Q521H|KCNC2_ENST00000550433.1_Missense_Mutation_p.Q521H|KCNC2_ENST00000548513.1_Missense_Mutation_p.Q521H	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	521					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.Q521H(2)		breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						ATGTGTCACTCTGTGTACTAT	0.413000													12	133					0	0	0.002450	0	0
FAM45A	404636	broad.mit.edu	37	10	120889070	120889070	+	Silent	SNP	A	A	C			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr10:120889070A>C	ENST00000361432.2	+	7	764	c.738A>C	c.(736-738)ccA>ccC	p.P246P	FAM45A_ENST00000535029.1_3'UTR|FAM45A_ENST00000489988.1_3'UTR|FAM45A_ENST00000544016.1_Silent_p.P95P	NM_207009.2	NP_996892.1	Q8TCE6	FA45A_HUMAN	family with sequence similarity 45, member A	246								p.P246P(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	14		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0293)		GCAACAGACCAGACCTCTATG	0.433000													4	53					0	0	0.000248	0	0
EXO1	9156	broad.mit.edu	37	1	242042435	242042435	+	Silent	SNP	C	C	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr1:242042435C>T	ENST00000366548.3	+	13	2492	c.1899C>T	c.(1897-1899)ttC>ttT	p.F633F	EXO1_ENST00000518483.1_Silent_p.F633F|EXO1_ENST00000348581.5_Silent_p.F633F	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	633	Interaction with MSH2.				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity	p.F633F(1)		NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			TGCAGCAGTTCCGAAGAAAGA	0.488000								Editing and processing nucleases					8	94					0	0	0.003080	0	0
MACF1	23499	broad.mit.edu	37	1	39844975	39844975	+	Silent	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr1:39844975C>A	ENST00000564288.1	+	54	14154	c.13377C>A	c.(13375-13377)ctC>ctA	p.L4459L	MACF1_ENST00000545844.1_Silent_p.L2397L|MACF1_ENST00000372915.3_Silent_p.L4464L|MACF1_ENST00000567887.1_Silent_p.L4496L|MACF1_ENST00000539005.1_Silent_p.L2376L|MACF1_ENST00000361689.2_Silent_p.L2397L|MACF1_ENST00000289893.4_Silent_p.L2899L|MACF1_ENST00000317713.7_Silent_p.L2397L			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4464					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	p.L2397L(1)|p.L2899L(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGGCTATCCTCAACAGAATGG	0.473000													18	222					3.52763e-06	4.79825e-06	0.004990	1	0
JAM2	58494	broad.mit.edu	37	21	27066137	27066137	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr21:27066137C>T	ENST00000480456.1	+	4	861	c.311C>T	c.(310-312)gCg>gTg	p.A104V	JAM2_ENST00000400532.1_Missense_Mutation_p.A104V|JAM2_ENST00000312957.5_Missense_Mutation_p.A104V|JAM2_ENST00000425221.2_Missense_Mutation_p.A68V	NM_001270407.1|NM_021219.3	NP_001257336.1|NP_067042.1	P57087	JAM2_HUMAN	junctional adhesion molecule 2	104	Ig-like V-type.				blood coagulation|cell-cell adhesion|leukocyte migration	integral to plasma membrane|tight junction		p.A104V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1)	19						AGAAGTGATGCGGGGAAATAT	0.388000													14	96					0	0	0.001855	0	0
IARS	3376	broad.mit.edu	37	9	94985761	94985761	+	Silent	SNP	G	G	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr9:94985761G>A	ENST00000375643.3	-	32	3686	c.3420C>T	c.(3418-3420)aaC>aaT	p.N1140N	IARS_ENST00000375629.3_3'UTR|IARS_ENST00000447699.2_Silent_p.N1030N|IARS_ENST00000443024.2_Silent_p.N1140N	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	1140					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding	p.N1140N(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	AGTCAGTTTGGTTTTGTATTT	0.338000													5	65					0	0	0.000602	0	0
CDH23	64072	broad.mit.edu	37	10	73548780	73548780	+	Silent	SNP	G	G	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr10:73548780G>A	ENST00000224721.6	+	44	5924	c.5919G>A	c.(5917-5919)gtG>gtA	p.V1973V		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1968	Cadherin 19.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	p.V1973V(1)		NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						AGGCAGAGGTGATGGAAAACT	0.567000													10	34					0	0	0.001368	0	0
BRINP1	1620	broad.mit.edu	37	9	122075514	122075514	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr9:122075514C>A	ENST00000265922.3	-	2	581	c.120G>T	c.(118-120)tgG>tgT	p.W40C	DBC1_ENST00000373964.2_Missense_Mutation_p.W40C	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		40					cell cycle arrest|cell death	cytoplasm	protein binding	p.W40C(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						CTGAAATGAGCCAATCAAATT	0.488000													16	63					9.95505e-16	1.72114e-15	0.002299	1	0
AKR7A2	8574	broad.mit.edu	37	1	19634651	19634651	+	Splice_Site	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr1:19634651C>A	ENST00000235835.3	-	3	613		c.e3+1			NM_003689.3	NP_003680.2	O43488	ARK72_HUMAN	aldo-keto reductase family 7, member A2 (aflatoxin aldehyde reductase)						carbohydrate metabolic process|cellular aldehyde metabolic process	Golgi apparatus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity	p.?(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00461)|BRCA - Breast invasive adenocarcinoma(304;1.83e-05)|Kidney(64;0.000167)|GBM - Glioblastoma multiforme(114;0.00115)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CCGGCCCTCACCTGGTACACA	0.617000													9	59					1.76689e-08	2.62066e-08	0.006214	1	0
ZNF436	80818	broad.mit.edu	37	1	23689281	23689281	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr1:23689281C>G	ENST00000314011.4	-	4	730	c.594G>C	c.(592-594)gaG>gaC	p.E198D	ZNF436_ENST00000374609.1_Missense_Mutation_p.E198D|ZNF436_ENST00000374608.3_Missense_Mutation_p.E198D	NM_001077195.1	NP_001070663.1	Q9C0F3	ZN436_HUMAN	zinc finger protein 436	198					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E198D(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		TTTTCCCACACTCGTTACAGT	0.423000													8	200					0	0	0.003080	0	0
SRD5A3	79644	broad.mit.edu	37	4	56230429	56230429	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr4:56230429G>C	ENST00000264228.4	+	3	781	c.553G>C	c.(553-555)Ggc>Cgc	p.G185R	SRD5A3_ENST00000514398.1_3'UTR|SRD5A3-AS1_ENST00000433175.2_RNA	NM_024592.4	NP_078868.1	Q9H8P0	PORED_HUMAN	steroid 5 alpha-reductase 3	185					androgen biosynthetic process|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|polyprenol catabolic process	endoplasmic reticulum membrane|integral to membrane	3-oxo-5-alpha-steroid 4-dehydrogenase activity|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor	p.G185R(1)		cervix(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12	all_cancers(7;0.0308)|all_lung(4;0.00195)|Lung NSC(11;0.00431)|all_epithelial(27;0.0425)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.0179)			GCCAATGGATGGCAGGAATGG	0.522000													5	43					0	0	0.000602	0	0
PCLO	27445	broad.mit.edu	37	7	82764398	82764398	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr7:82764398C>A	ENST00000423517.2	-	3	2805	c.2468G>T	c.(2467-2469)cGa>cTa	p.R823L	PCLO_ENST00000333891.8_Missense_Mutation_p.R823L	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	769	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.R823L(2)|p.R769L(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGATGCAGGTCGAGGTATGGC	0.438000													28	204					7.07758e-08	1.02849e-07	0.004656	1	0
NUP54	53371	broad.mit.edu	37	4	77057381	77057381	+	Silent	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr4:77057381C>A	ENST00000264883.3	-	4	620	c.480G>T	c.(478-480)ccG>ccT	p.P160P	NUP54_ENST00000342467.6_5'UTR|NUP54_ENST00000458189.2_Intron|NUP54_ENST00000514987.1_Silent_p.P112P|NUP54_ENST00000515460.1_5'UTR	NM_017426.2	NP_059122.2	Q7Z3B4	NUP54_HUMAN	nucleoporin 54kDa	160	9 X 2 AA repeats of F-G.				carbohydrate metabolic process|glucose transport|mRNA transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleoplasm		p.P160P(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1)	19						ATTCCACTGGCGGAATATTAT	0.348000													8	89					0.00448238	0.00519775	0.004482	1	0
URB2	9816	broad.mit.edu	37	1	229771836	229771836	+	Silent	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr1:229771836G>T	ENST00000258243.2	+	4	1612	c.1476G>T	c.(1474-1476)tcG>tcT	p.S492S		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	492						nucleolus		p.S492S(1)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						TGCTGGCCTCGGGCCCCTCCA	0.577000													15	174					0.000422831	0.000518601	0.004007	1	0
SLAMF1	6504	broad.mit.edu	37	1	160604432	160604432	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr1:160604432G>T	ENST00000302035.6	-	3	1020	c.671C>A	c.(670-672)cCg>cAg	p.P224Q	SLAMF1_ENST00000235739.5_Missense_Mutation_p.P224Q|SLAMF1_ENST00000538290.1_Missense_Mutation_p.P224Q|SLAMF1_ENST00000355199.3_Missense_Mutation_p.P224Q	NM_003037.2	NP_003028.1	Q13291	SLAF1_HUMAN	signaling lymphocytic activation molecule family member 1	224					interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation	integral to membrane	antigen binding|transmembrane receptor activity	p.P224Q(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			TCCGGGCCACGGGCTGAAGGT	0.577000													30	117					2.42023e-17	4.24836e-17	0.003271	1	0
LPHN3	23284	broad.mit.edu	37	4	62775293	62775293	+	Missense_Mutation	SNP	A	A	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr4:62775293A>G	ENST00000512091.1	+	11	2446	c.1699A>G	c.(1699-1701)Aca>Gca	p.T567A	LPHN3_ENST00000514996.1_Missense_Mutation_p.T567A|LPHN3_ENST00000504896.1_Missense_Mutation_p.T567A|LPHN3_ENST00000508946.1_Missense_Mutation_p.T567A|LPHN3_ENST00000506746.1_Missense_Mutation_p.T635A|LPHN3_ENST00000506700.1_Missense_Mutation_p.T567A|LPHN3_ENST00000514591.1_Missense_Mutation_p.T567A|LPHN3_ENST00000506720.1_Missense_Mutation_p.T635A|LPHN3_ENST00000509896.1_Missense_Mutation_p.T635A|LPHN3_ENST00000507625.1_Missense_Mutation_p.T635A|LPHN3_ENST00000511324.1_Missense_Mutation_p.T635A|LPHN3_ENST00000514157.1_Missense_Mutation_p.T567A|LPHN3_ENST00000545650.1_Missense_Mutation_p.T567A|LPHN3_ENST00000508693.1_Missense_Mutation_p.T635A|LPHN3_ENST00000507164.1_Missense_Mutation_p.T635A			Q9HAR2	LPHN3_HUMAN	latrophilin 3	567					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	p.T567A(3)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						ATCTGGTGAAACAGCTGCCAA	0.408000													4	26					0	0	0.000248	0	0
SRI	6717	broad.mit.edu	37	7	87837825	87837825	+	Silent	SNP	A	A	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr7:87837825A>G	ENST00000265729.2	-	7	619	c.567T>C	c.(565-567)gaT>gaC	p.D189D	SRI_ENST00000394641.3_Silent_p.D174D|SRI_ENST00000490437.1_Silent_p.D146D|SRI_ENST00000419179.1_Silent_p.D149D|SRI_ENST00000431660.1_Silent_p.D174D	NM_003130.3	NP_003121.1	P30626	SORCN_HUMAN	sorcin	189					heart development|intracellular sequestering of iron ion|muscle organ development|regulation of action potential|regulation of heart contraction|regulation of striated muscle contraction|signal transduction	sarcoplasmic reticulum membrane	calcium channel regulator activity|calcium ion binding|receptor binding	p.D189D(1)		large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	5	Esophageal squamous(14;0.00202)					GACTTACATCATCATATGGGA	0.343000													4	39					0	0	0.000248	0	0
TMEM200A	114801	broad.mit.edu	37	6	130762164	130762164	+	Silent	SNP	C	C	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr6:130762164C>T	ENST00000392429.1	+	2	2975	c.597C>T	c.(595-597)agC>agT	p.S199S	TMEM200A_ENST00000545622.1_Silent_p.S199S|TMEM200A_ENST00000296978.3_Silent_p.S199S	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	199						integral to membrane				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		AGAATGGGAGCTCCTGTGCCT	0.473000													7	35					0	0	0.003080	0	0
SCN1A	6323	broad.mit.edu	37	2	166908495	166908495	+	Missense_Mutation	SNP	A	A	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr2:166908495A>G	ENST00000423058.2	-	6	715	c.698T>C	c.(697-699)cTg>cCg	p.L233P	SCN1A_ENST00000303395.4_Missense_Mutation_p.L233P|SCN1A_ENST00000375405.3_Missense_Mutation_p.L233P|SCN1A_ENST00000409050.1_Missense_Mutation_p.L233P|AC010127.3_ENST00000595268.1_RNA|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	233						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.L233P(2)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	AATGGTTTTCAGGCCTGAAAG	0.378000													3	92					0	0	0.004672	0	0
LIPC	3990	broad.mit.edu	37	15	58834830	58834830	+	Missense_Mutation	SNP	A	A	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr15:58834830A>T	ENST00000414170.3	+	5	841	c.554A>T	c.(553-555)cAc>cTc	p.H185L	LIPC_ENST00000299022.5_Missense_Mutation_p.H185L|LIPC_ENST00000433326.2_Missense_Mutation_p.H124L|LIPC_ENST00000356113.6_Missense_Mutation_p.H185L			P11150	LIPC_HUMAN	lipase, hepatic	185	Heparin-binding (Potential).				cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity	p.H185L(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		GGTGGAACGCACAAGATTGGG	0.512000													7	73					0	0	0.004482	0	0
RSBN1	54665	broad.mit.edu	37	1	114354885	114354885	+	Silent	SNP	A	A	C			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr1:114354885A>C	ENST00000261441.5	-	1	213	c.150T>G	c.(148-150)gcT>gcG	p.A50A		NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	50						nucleus		p.A50A(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CGACCTGCGCAGCCATTTCAC	0.687000													9	116					0	0	0.001368	0	0
FLG	2312	broad.mit.edu	37	1	152286475	152286475	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr1:152286475C>A	ENST00000368799.1	-	3	922	c.887G>T	c.(886-888)aGa>aTa	p.R296I	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	296	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.R296I(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGGCTAACTCTGGATCCCCT	0.512000									Ichthyosis				85	557					2.75442e-36	5.00328e-36	0.003610	1	0
LRRK2	120892	broad.mit.edu	37	12	40707882	40707882	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr12:40707882G>A	ENST00000298910.7	+	32	4703	c.4645G>A	c.(4645-4647)Gac>Aac	p.D1549N	LRRK2_ENST00000481256.1_3'UTR	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1549					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)				TCCCGTAATTGACCGGAAACG	0.383000													6	60					0	0	0.001168	0	0
PCLO	27445	broad.mit.edu	37	7	82584133	82584133	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr7:82584133C>T	ENST00000423517.2	-	5	6473	c.6136G>A	c.(6136-6138)Ggt>Agt	p.G2046S	PCLO_ENST00000333891.8_Missense_Mutation_p.G2046S	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1977					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.G2046S(2)|p.G1977S(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ACCATAGTACCCAGGTCCACT	0.398000													5	73					0	0	0.000602	0	0
OR10R2	343406	broad.mit.edu	37	1	158450652	158450652	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr1:158450652G>T	ENST00000368152.1	+	1	985	c.985G>T	c.(985-987)Ggt>Tgt	p.G329C	RP11-144L1.4_ENST00000419738.1_RNA|RP11-144L1.4_ENST00000426251.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	329					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G329C(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					GGGCAAGAAAGGTTCTCTAAA	0.308000													11	43					6.42651e-13	1.07546e-12	0.000978	1	0
DAGLB	221955	broad.mit.edu	37	7	6449551	6449551	+	Missense_Mutation	SNP	G	G	A	rs138713047	by1000genomes	TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr7:6449551G>A	ENST00000297056.6	-	15	2105	c.1936C>T	c.(1936-1938)Cgg>Tgg	p.R646W	DAGLB_ENST00000425398.2_Missense_Mutation_p.R517W|DAGLB_ENST00000436575.1_Missense_Mutation_p.R605W	NM_139179.3	NP_631918.3	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta	646					lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	p.R646W(1)		breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		TCCAAGGCCCGCATCAGGATG	0.587000													7	78					0	0	0.001984	0	0
SNX29	92017	broad.mit.edu	37	16	12142251	12142251	+	Silent	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr16:12142251G>T	ENST00000566228.1	+	7	591	c.522G>T	c.(520-522)gcG>gcT	p.A174A	SNX29_ENST00000568359.1_3'UTR	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	0					cell communication		phosphatidylinositol binding	p.A174A(1)		endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						TACTCTTTGCGATTAACATCG	0.483000													29	127					3.1745e-13	5.34358e-13	0.008361	1	0
GPSM2	29899	broad.mit.edu	37	1	109445818	109445818	+	Missense_Mutation	SNP	A	A	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr1:109445818A>G	ENST00000406462.1	+	10	1797	c.1024A>G	c.(1024-1026)Atg>Gtg	p.M342V	GPSM2_ENST00000264126.3_Missense_Mutation_p.M342V|AKNAD1_ENST00000357393.4_Intron			P81274	GPSM2_HUMAN	G-protein signaling modulator 2	342					G-protein coupled receptor protein signaling pathway	cell cortex|nucleus	GTPase activator activity|identical protein binding	p.M335V(1)		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)		TGATCAAGCAATGCATTTTGC	0.373000													3	33					0	0	0.004672	0	0
LILRB4	11006	broad.mit.edu	37	19	55179365	55179365	+	Silent	SNP	G	G	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr19:55179365G>A	ENST00000391736.1	+	14	1557	c.1242G>A	c.(1240-1242)caG>caA	p.Q414Q	LILRB4_ENST00000270452.2_Silent_p.Q414Q|LILRB4_ENST00000391734.3_Silent_p.Q361Q|LILRB4_ENST00000391733.3_Silent_p.Q415Q|LILRB4_ENST00000430952.2_Silent_p.Q413Q	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	414			Q -> R (in dbSNP:rs1048801).			integral to membrane|plasma membrane	antigen binding|receptor activity	p.Q414Q(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		CCTACGCCCAGCTGCACAGCT	0.647000													14	80					0	0	0.002450	0	0
MYD88	4615	broad.mit.edu	37	3	38182678	38182678	+	Silent	SNP	C	C	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr3:38182678C>T	ENST00000417037.2	+	5	1039	c.855C>T	c.(853-855)ttC>ttT	p.F285F	MYD88_ENST00000481122.1_3'UTR|MYD88_ENST00000443433.2_3'UTR|MYD88_ENST00000424893.1_Silent_p.F232F|MYD88_ENST00000396334.3_Silent_p.F277F|MYD88_ENST00000495303.1_3'UTR	NM_001172567.1	NP_001166038.1	Q99836	MYD88_HUMAN	myeloid differentiation primary response 88	264	TIR.				3'-UTR-mediated mRNA stabilization|anti-apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-17 production|positive regulation of interleukin-23 production|positive regulation of interleukin-6 production|regulation of inflammatory response|response to interleukin-1|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|intrinsic to membrane|plasma membrane	death receptor binding|TIR domain binding|transmembrane receptor activity	p.F277F(1)		breast(1)|haematopoietic_and_lymphoid_tissue(226)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	237				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		AGAAAGAGTTCCCCAGCATCC	0.562000			Mis		ABC-DLBCL								23	103					0	0	0.002299	0	0
TUBB8	347688	broad.mit.edu	37	10	93573	93573	+	Silent	SNP	C	C	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr10:93573C>G	ENST00000447903.2	-	4	858	c.543G>C	c.(541-543)ctG>ctC	p.L181L	TUBB8_ENST00000309812.4_Silent_p.L253L|TUBB8_ENST00000332708.5_3'UTR|TUBB8_ENST00000413237.3_5'UTR			Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII	253					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	p.A254S(1)		NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		TGTTCACGGCCAGCTTCCGCA	0.637000													4	41					0	0	0.000978	0	0
STK11	6794	broad.mit.edu	37	19	1207120	1207120	+	Nonsense_Mutation	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr19:1207120G>T	ENST00000326873.7	+	1	1381	c.208G>T	c.(208-210)Gag>Tag	p.E70*	STK11_ENST00000585748.1_Intron	NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	70	Protein kinase.				anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.0?(20)|p.?(3)|p.E70*(2)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTGGACTCGGAGACGCTGTG	0.607000		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)			8	26					0.000157383	0.000195114	0.003080	1	0
TUBA3C	7278	broad.mit.edu	37	13	19748131	19748131	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr13:19748131C>A	ENST00000400113.3	-	5	1329	c.1225G>T	c.(1225-1227)Gtg>Ttg	p.V409L		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	409					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	p.V409L(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		CCTTCTCCCACGTACCAGTGC	0.607000													17	134					0.00400662	0.00466491	0.004007	1	0
RNF31	55072	broad.mit.edu	37	14	24618772	24618772	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr14:24618772G>C	ENST00000324103.6	+	6	1109	c.789G>C	c.(787-789)caG>caC	p.Q263H	RNF31_ENST00000382687.3_Missense_Mutation_p.Q112H|RNF31_ENST00000559275.1_Missense_Mutation_p.Q112H	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31	263	Polyubiquitin-binding.				CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway	CD40 receptor complex|internal side of plasma membrane|LUBAC complex	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	p.Q263H(1)		breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		GGGTCCTGCAGGGTACCCACC	0.557000													19	59					0	0	0.002780	0	0
DNAJC13	23317	broad.mit.edu	37	3	132218620	132218620	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr3:132218620C>T	ENST00000260818.6	+	38	4632	c.4384C>T	c.(4384-4386)Cgt>Tgt	p.R1462C		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1462							heat shock protein binding	p.R1462C(1)|p.R845C(1)		breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						TGTCTTGACTCGTGCTAGTAA	0.428000													12	276					0	0	0.001855	0	0
SLC25A2	83884	broad.mit.edu	37	5	140683346	140683346	+	Silent	SNP	G	G	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr5:140683346G>A	ENST00000239451.4	-	1	266	c.87C>T	c.(85-87)ccC>ccT	p.P29P		NM_031947.2	NP_114153.1	Q9BXI2	ORNT2_HUMAN	solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2	29					mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity	p.P29P(1)		breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	TTGTGTCGAAGGGCTGCCCAG	0.602000													9	57					0	0	0.004482	0	0
NLRP2	55655	broad.mit.edu	37	19	55493713	55493713	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr19:55493713G>T	ENST00000543010.1	+	6	790	c.647G>T	c.(646-648)gGc>gTc	p.G216V	NLRP2_ENST00000391721.4_Missense_Mutation_p.G192V|NLRP2_ENST00000263437.6_Missense_Mutation_p.G213V|NLRP2_ENST00000448584.2_Missense_Mutation_p.G216V|NLRP2_ENST00000538819.1_Missense_Mutation_p.G192V|NLRP2_ENST00000537859.1_Missense_Mutation_p.G194V|NLRP2_ENST00000427260.2_Missense_Mutation_p.G193V|NLRP2_ENST00000339757.7_Missense_Mutation_p.G194V	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	216	NACHT.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding	p.G216V(1)		large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GGTCCTGCAGGCCTTGGGAAA	0.537000													11	78					3.86212e-05	4.94834e-05	0.008291	1	0
IARS2	55699	broad.mit.edu	37	1	220287811	220287811	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr1:220287811C>G	ENST00000366922.1	+	12	1750	c.1419C>G	c.(1417-1419)atC>atG	p.I473M	IARS2_ENST00000302637.5_Missense_Mutation_p.I545M			Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial	545					isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity	p.I545M(1)		NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	AATACTTGATCAACAGGTAGA	0.318000													20	97					0	0	0.008871	0	0
DST	667	broad.mit.edu	37	6	56468675	56468675	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr6:56468675C>A	ENST00000370754.5	-	39	10651	c.10652G>T	c.(10651-10653)gGg>gTg	p.G3551V	DST_ENST00000370769.4_Missense_Mutation_p.G3373V|DST_ENST00000244364.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000361203.3_Missense_Mutation_p.G3373V|DST_ENST00000446842.2_Missense_Mutation_p.G3047V|DST_ENST00000312431.6_Missense_Mutation_p.G3373V|DST_ENST00000370788.2_Intron			Q03001	DYST_HUMAN	dystonin	3373					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CTCTTTAGACCCTGAAGTACA	0.418000													5	33					5.9392e-07	8.33521e-07	0.001168	1	0
PDCD1LG2	80380	broad.mit.edu	37	9	5534886	5534886	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr9:5534886C>A	ENST00000397747.3	+	3	445	c.197C>A	c.(196-198)aCa>aAa	p.T66K	PDCD1LG2_ENST00000397745.2_Missense_Mutation_p.T66K	NM_025239.3	NP_079515.2	Q9BQ51	PD1L2_HUMAN	programmed cell death 1 ligand 2	66	Ig-like V-type.				immune response|T cell costimulation	endomembrane system|extracellular region|integral to membrane|plasma membrane	receptor activity	p.T66K(1)		large_intestine(2)|lung(4)|prostate(2)	8	all_hematologic(13;0.158)	Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000767)|Lung(218;0.112)		GAAAATGATACATCCCCACAC	0.517000													3	56					2.56e-06	3.51541e-06	0.000248	1	0
DMBX1	127343	broad.mit.edu	37	1	46976740	46976740	+	Missense_Mutation	SNP	A	A	C			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr1:46976740A>C	ENST00000371956.4	+	3	497	c.482A>C	c.(481-483)cAg>cCg	p.Q161P	DMBX1_ENST00000360032.3_Missense_Mutation_p.Q156P	NM_147192.2	NP_671725.1	Q8NFW5	DMBX1_HUMAN	diencephalon/mesencephalon homeobox 1	161					brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.Q161P(1)		endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					CCAGATACCCAGCTGGACACT	0.637000													5	52					0	0	0.000602	0	0
ZNF439	90594	broad.mit.edu	37	19	11978327	11978327	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr19:11978327G>T	ENST00000304030.2	+	3	643	c.443G>T	c.(442-444)tGt>tTt	p.C148F	ZNF439_ENST00000592534.1_Intron|ZNF439_ENST00000455282.1_Missense_Mutation_p.C12F	NM_152262.2	NP_689475.1	Q8NDP4	ZN439_HUMAN	zinc finger protein 439	148					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.C148F(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2)	27						CACAAGGCATGTGAATGTCAG	0.428000													45	148					3.05275e-18	5.39162e-18	0.003214	1	0
ZCCHC6	79670	broad.mit.edu	37	9	88967678	88967678	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr9:88967678C>T	ENST00000375961.2	-	2	651	c.437G>A	c.(436-438)aGa>aAa	p.R146K	ZCCHC6_ENST00000375963.3_Missense_Mutation_p.R146K|ZCCHC6_ENST00000375960.2_Missense_Mutation_p.R146K|ZCCHC6_ENST00000277141.6_5'UTR			Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	146					RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding	p.R146K(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						TCTGCAGCCTCTTGTGTCTTG	0.408000													18	180					0	0	0.004990	0	0
CPT1C	126129	broad.mit.edu	37	19	50204052	50204052	+	Silent	SNP	C	C	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr19:50204052C>G	ENST00000392518.4	+	5	765	c.393C>G	c.(391-393)tcC>tcG	p.S131S	CPT1C_ENST00000405931.2_Silent_p.S131S|CPT1C_ENST00000354199.5_Silent_p.S131S|CPT1C_ENST00000323446.5_Silent_p.S131S|CPT1C_ENST00000598293.1_Silent_p.S131S	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	131					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	p.S131S(1)		breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		TGCTTCTGTCCTACCACGGCT	0.657000													16	112					0	0	0.006122	0	0
DISP1	84976	broad.mit.edu	37	1	223178675	223178675	+	Silent	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr1:223178675G>T	ENST00000284476.6	+	8	4100	c.3936G>T	c.(3934-3936)gtG>gtT	p.V1312V		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	1312					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity	p.A1313S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		AAAACGGCGTGGCACCTCTGA	0.587000													19	82					3.99206e-14	6.79953e-14	0.007413	1	0
ZNF415	55786	broad.mit.edu	37	19	53612605	53612605	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr19:53612605C>A	ENST00000455735.2	-	7	1157	c.837G>T	c.(835-837)atG>atT	p.M279I	ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000601493.1_Start_Codon_SNP_p.M1I|ZNF415_ENST00000500065.4_Missense_Mutation_p.M231I|ZNF415_ENST00000421033.1_Missense_Mutation_p.M243I|ZNF415_ENST00000440291.1_Missense_Mutation_p.M218I|ZNF415_ENST00000448501.1_Missense_Mutation_p.M279I|ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000243643.4_Missense_Mutation_p.M231I|ZNF415_ENST00000597503.1_3'UTR			Q09FC8	ZN415_HUMAN	zinc finger protein 415	279					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleolus	DNA binding|zinc ion binding	p.M231I(1)		breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		GACGTACAGTCATGTGTGAGC	0.403000													9	95					1.12685e-05	1.49379e-05	0.004482	1	0
DUSP10	11221	broad.mit.edu	37	1	221912759	221912759	+	Missense_Mutation	SNP	T	T	A	rs148718278		TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr1:221912759T>A	ENST00000366899.3	-	2	566	c.328A>T	c.(328-330)Acc>Tcc	p.T110S	DUSP10_ENST00000323825.3_Intron	NM_007207.4	NP_009138.1	Q9Y6W6	DUS10_HUMAN	dual specificity phosphatase 10	110					inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade	Golgi apparatus|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	p.T110S(1)|p.T110A(1)		NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(131;0.0103)		GGGCAGGTGGTAGAGGTTCCG	0.572000													9	18					0	0	0.006214	0	0
OR10K2	391107	broad.mit.edu	37	1	158389821	158389821	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr1:158389821G>T	ENST00000314902.2	-	1	835	c.836C>A	c.(835-837)aCt>aAt	p.T279N		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	279					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T279N(1)		NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					AGTTATAATAGTGTAGGATAC	0.378000													14	101					1.5842e-08	2.36805e-08	0.001855	1	0
EXOC3	11336	broad.mit.edu	37	5	466932	466932	+	Silent	SNP	A	A	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr5:466932A>T	ENST00000512944.1	+	13	2346	c.2157A>T	c.(2155-2157)ccA>ccT	p.P719P	CTD-2228K2.5_ENST00000510714.1_Intron|EXOC3_ENST00000315013.5_Silent_p.P719P	NM_007277.4	NP_009208.2	O60645	EXOC3_HUMAN	exocyst complex component 3	730					exocytosis|protein transport			p.P719P(1)		breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1)	23		Ovarian(839;0.0563)	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			AGCAGGGCCCAGCACAGGCCA	0.657000													7	17					0	0	0.003080	0	0
BTBD11	121551	broad.mit.edu	37	12	107937905	107937905	+	Silent	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr12:107937905C>A	ENST00000280758.5	+	3	2007	c.1479C>A	c.(1477-1479)ctC>ctA	p.L493L	BTBD11_ENST00000490090.2_Silent_p.L493L|BTBD11_ENST00000420571.2_Silent_p.L493L	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	493						integral to membrane	DNA binding	p.L493L(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						AAGTCAACCTCCAGGTGGAAA	0.567000													5	33					3.59834e-05	4.64145e-05	0.001168	1	0
RARB	5915	broad.mit.edu	37	3	25611292	25611292	+	Silent	SNP	G	G	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr3:25611292G>A	ENST00000330688.4	+	4	913	c.492G>A	c.(490-492)aaG>aaA	p.K164K	RARB_ENST00000404969.1_Silent_p.K171K|RARB_ENST00000462272.1_3'UTR|RARB_ENST00000458646.1_Silent_p.K52K|RARB_ENST00000437042.2_Silent_p.K52K	NM_000965.3	NP_000956.2	P10826	RARB_HUMAN	retinoic acid receptor, beta	171	Hinge.				embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.K164K(1)|p.K171K(1)		breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799)	AGACTTCGAAGCAAGAATGCA	0.507000													4	55					0	0	0.000248	0	0
JAKMIP3	282973	broad.mit.edu	37	10	133948583	133948583	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr10:133948583G>T	ENST00000298622.4	+	4	1026	c.888G>T	c.(886-888)caG>caT	p.Q296H		NM_001105521.2	NP_001098991.1			Janus kinase and microtubule interacting protein 3									p.Q296H(1)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		GGCGCTTCCAGCTTAAAATCG	0.512000													5	40					0.000602214	0.000729264	0.000602	1	0
MAK	4117	broad.mit.edu	37	6	10764813	10764813	+	Silent	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr6:10764813G>T	ENST00000313243.2	-	14	2126	c.1744C>A	c.(1744-1746)Cgg>Agg	p.R582R	MAK_ENST00000538030.1_3'UTR|SYCP2L_ENST00000543878.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron|MAK_ENST00000474039.1_Silent_p.R582R|MAK_ENST00000354489.2_Silent_p.R582R			P20794	MAK_HUMAN	male germ cell-associated kinase	582					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|cyclin-dependent protein kinase activity	p.R582R(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)	22	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)				AACTGCCCCCGACCAGTTTTT	0.398000													30	94					4.3181e-19	7.69748e-19	0.002836	1	0
COL16A1	1307	broad.mit.edu	37	1	32138038	32138038	+	Silent	SNP	C	C	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr1:32138038C>T	ENST00000373672.3	-	47	3600	c.3084G>A	c.(3082-3084)ttG>ttA	p.L1028L	COL16A1_ENST00000271069.6_Silent_p.L1028L	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	1028	Triple-helical region 2 (COL2) with 2 imperfections.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity	p.L1028L(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		TCTGGCCTGGCAATCCCGGAG	0.607000													8	56					0	0	0.006214	0	0
OR4C16	219428	broad.mit.edu	37	11	55340043	55340043	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr11:55340043G>T	ENST00000314634.3	+	1	440	c.440G>T	c.(439-441)tGg>tTg	p.W147L		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.W147L(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				GCTGTGGCCTGGGTGGGATCC	0.498000													51	178					2.43468e-25	4.39468e-25	0.003610	1	0
BTD	686	broad.mit.edu	37	3	15677058	15677058	+	Missense_Mutation	SNP	T	T	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr3:15677058T>A	ENST00000383778.4	+	2	470	c.112T>A	c.(112-114)Tat>Aat	p.Y38N	BTD_ENST00000303498.5_Missense_Mutation_p.Y58N|BTD_ENST00000482824.1_3'UTR|BTD_ENST00000437172.1_Missense_Mutation_p.Y60N|BTD_ENST00000449107.1_Missense_Mutation_p.Y60N			P43251	BTD_HUMAN	biotinidase	58					central nervous system development|epidermis development|nitrogen compound metabolic process	extracellular space	biotin carboxylase activity|biotinidase activity	p.Y58N(1)		breast(2)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	18						GGCTGAATATTATGTGGCTGC	0.562000													4	110					0	0	0.000248	0	0
SLC5A10	125206	broad.mit.edu	37	17	18922736	18922736	+	Splice_Site	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr17:18922736G>T	ENST00000317977.6	+	12	1723	c.1151_splice	c.e12-1	p.W384_splice	SLC5A10_ENST00000395647.2_Splice_Site_p.R430_splice|SLC5A10_ENST00000395643.2_Splice_Site_p.R387_splice|SLC5A10_ENST00000395645.3_Splice_Site_p.R414_splice|SLC5A10_ENST00000417251.2_Splice_Site_p.R378_splice|SLC5A10_ENST00000395642.1_Splice_Site_p.W384_splice			A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 10	414					sodium ion transport|transmembrane transport	integral to membrane	transporter activity	p.R430R(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						TCGCCTGCAGGCTGGTCATAG	0.592000													4	14					5.9392e-07	8.33521e-07	0.001168	1	0
KLHL3	26249	broad.mit.edu	37	5	136969802	136969802	+	Silent	SNP	G	G	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr5:136969802G>A	ENST00000508657.1	-	12	1992	c.1278C>T	c.(1276-1278)agC>agT	p.S426S	KLHL3_ENST00000506873.1_5'UTR|KLHL3_ENST00000309755.4_Silent_p.S458S|KLHL3_ENST00000541417.1_Intron|KLHL3_ENST00000506491.1_Silent_p.S376S	NM_001257194.1	NP_001244123.1	Q9UH77	KLHL3_HUMAN	kelch-like family member 3	458						cytoplasm|cytoskeleton	actin binding|structural molecule activity	p.S458S(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)	21		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)		GCTCCACAGTGCTCAGACACT	0.567000													21	101					0	0	0.001523	0	0
COL6A3	1293	broad.mit.edu	37	2	238245036	238245036	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr2:238245036G>T	ENST00000295550.4	-	40	9159	c.8707C>A	c.(8707-8709)Cca>Aca	p.P2903T	COL6A3_ENST00000472056.1_Missense_Mutation_p.P2296T|COL6A3_ENST00000353578.4_Missense_Mutation_p.P2697T|COL6A3_ENST00000346358.4_Missense_Mutation_p.P2703T|COL6A3_ENST00000409809.1_Missense_Mutation_p.P2697T|COL6A3_ENST00000347401.3_Missense_Mutation_p.P2702T	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2903	Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	p.P2903T(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TTCACAGATGGCTGATTTATA	0.572000													12	172					1.61879e-10	2.54572e-10	0.001368	1	0
UTP14A	10813	broad.mit.edu	37	X	129040189	129040189	+	Translation_Start_Site	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chrX:129040189G>T	ENST00000394422.3	+	1	31	c.3G>T	c.(1-3)atG>atT	p.M1I	UTP14A_ENST00000371051.5_5'UTR|UTP14A_ENST00000425117.2_Start_Codon_SNP_p.M1I|RP4-537K23.4_ENST00000432062.1_RNA	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	1					rRNA processing	nucleolus|small-subunit processome	protein binding	p.M1I(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						CTGCTGAAATGACTGCGAACC	0.577000													19	125					8.34094e-07	1.15925e-06	0.008871	1	0
CCR8	1237	broad.mit.edu	37	3	39374724	39374724	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr3:39374724C>A	ENST00000326306.4	+	2	1040	c.902C>A	c.(901-903)gCt>gAt	p.A301D	CCR8_ENST00000545843.1_Missense_Mutation_p.A218D|CCR8_ENST00000414803.1_3'UTR	NM_005201.3	NP_005192.1	P51685	CCR8_HUMAN	chemokine (C-C motif) receptor 8	301					cell adhesion|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	coreceptor activity	p.A301D(1)		NS(3)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635)		GTTATCTATGCTTTTGTTGGG	0.423000													10	88					9.70103e-10	1.50497e-09	0.008291	1	0
KCNC2	3747	broad.mit.edu	37	12	75444888	75444888	+	Silent	SNP	G	G	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr12:75444888G>A	ENST00000549446.1	-	3	1577	c.897C>T	c.(895-897)gtC>gtT	p.V299V	KCNC2_ENST00000298972.1_Silent_p.V299V|KCNC2_ENST00000350228.2_Silent_p.V299V|KCNC2_ENST00000540018.1_Silent_p.V299V|KCNC2_ENST00000341669.3_Silent_p.V299V|KCNC2_ENST00000393288.2_Silent_p.V299V|KCNC2_ENST00000550433.1_Silent_p.V299V|KCNC2_ENST00000548513.1_Silent_p.V299V	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	299					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.V299V(2)		breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						AAACAATACGGACTAAAAATT	0.378000													10	65					0	0	0.000978	0	0
WBSCR17	64409	broad.mit.edu	37	7	71036294	71036294	+	Silent	SNP	G	G	T	rs144028983	byFrequency	TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr7:71036294G>T	ENST00000333538.5	+	6	1621	c.987G>T	c.(985-987)tcG>tcT	p.S329S	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	329	Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.S329S(1)		NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				TAGGCTGCTCGTTCGTGGTCA	0.502000													11	130					3.07112e-06	4.18722e-06	0.000978	1	0
ZNF512B	57473	broad.mit.edu	37	20	62592741	62592741	+	Missense_Mutation	SNP	T	T	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr20:62592741T>G	ENST00000450537.1	-	16	2408	c.2348A>C	c.(2347-2349)aAg>aCg	p.K783T	ZNF512B_ENST00000217130.3_Missense_Mutation_p.K783T|ZNF512B_ENST00000369888.1_Missense_Mutation_p.K783T			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	783					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K783T(1)		NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					ACAGCGGTACTTCCCTGCCAG	0.602000													4	63					0	0	0.000248	0	0
RFX6	222546	broad.mit.edu	37	6	117249929	117249929	+	Silent	SNP	T	T	C			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr6:117249929T>C	ENST00000332958.2	+	18	2422	c.2406T>C	c.(2404-2406)taT>taC	p.Y802Y		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	802					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding	p.Y802Y(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						CAGGATACTATGGAAGCAACA	0.423000													7	62					0	0	0.001984	0	0
KMT2C	58508	broad.mit.edu	37	7	151945170	151945170	+	Silent	SNP	G	G	C			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr7:151945170G>C	ENST00000355193.2	-	14	2567	c.2349C>G	c.(2347-2349)tcC>tcG	p.S783S	KMT2C_ENST00000262189.6_Silent_p.S783S					lysine (K)-specific methyltransferase 2C									p.S783S(2)									GTGTTGGGGAGGAAGACACAT	0.423000													10	528					0	0	0.008291	0	0
TP53	7157	broad.mit.edu	37	17	7579457	7579457	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr17:7579457G>A	ENST00000420246.2	-	4	362	c.230C>T	c.(229-231)cCa>cTa	p.P77L	TP53_ENST00000455263.2_Missense_Mutation_p.P77L|TP53_ENST00000269305.4_Missense_Mutation_p.P77L|TP53_ENST00000413465.2_Missense_Mutation_p.P77L|TP53_ENST00000445888.2_Missense_Mutation_p.P77L|TP53_ENST00000359597.4_Missense_Mutation_p.P77L	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	77	Interaction with HRMT1L2.|Interaction with WWOX.		P -> A (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.A76_S90del15(3)|p.P77L(3)|p.G59fs*23(3)|p.V73fs*9(1)|p.R65fs*38(1)|p.P77fs*71(1)|p.D48fs*55(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.A74fs*71(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)		AGGAGCTGCTGGTGCAGGGGC	0.617000		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)			15	132					0	0	0.002450	0	0
HOXD10	3236	broad.mit.edu	37	2	176981700	176981700	+	Nonsense_Mutation	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr2:176981700G>T	ENST00000249501.4	+	1	394	c.139G>T	c.(139-141)Gga>Tga	p.G47*	HOXD10_ENST00000490088.2_Intron	NM_002148.3	NP_002139.2	P28358	HXD10_HUMAN	homeobox D10	47						nucleus	sequence-specific DNA binding	p.G47*(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		GGGGACCTATGGAATGCAAAC	0.478000													11	101					1.36491e-13	2.31109e-13	0.001855	1	0
ZNF479	90827	broad.mit.edu	37	7	57188235	57188235	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr7:57188235G>T	ENST00000331162.4	-	5	1157	c.887C>A	c.(886-888)cCc>cAc	p.P296H		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	296					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P296H(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			ACATTTGTAGGGTCTCTCTCC	0.473000													8	72					0.000442599	0.000540536	0.006214	1	0
MKI67	4288	broad.mit.edu	37	10	129913540	129913540	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr10:129913540C>A	ENST00000368654.3	-	7	1507	c.1132G>T	c.(1132-1134)Ggt>Tgt	p.G378C	MKI67_ENST00000368653.3_Intron	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	378					cell proliferation	nucleolus	ATP binding|protein C-terminus binding	p.G378C(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TCACTTTTACCCAGATTCACA	0.398000													12	131					1.61879e-10	2.54572e-10	0.001368	1	0
ASPM	259266	broad.mit.edu	37	1	197073257	197073257	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr1:197073257G>C	ENST00000367409.4	-	18	5380	c.5124C>G	c.(5122-5124)atC>atG	p.I1708M	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1708					mitosis	cytoplasm|nucleus	calmodulin binding	p.I1708M(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						AACATTGCTGGATAAATAGTG	0.348000													3	118					0	0	0.004672	0	0
OR51G1	79324	broad.mit.edu	37	11	4944910	4944910	+	Nonsense_Mutation	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr11:4944910G>T	ENST00000321961.2	-	1	727	c.660C>A	c.(658-660)taC>taA	p.Y220*	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G, member 1	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Y220*(1)		NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGATGAGGGCGTATGAGAGAA	0.547000													13	57					4.36969e-10	6.7973e-10	0.001855	1	0
NRK	203447	broad.mit.edu	37	X	105168969	105168969	+	Silent	SNP	A	A	C			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chrX:105168969A>C	ENST00000428173.2	+	19	3564	c.3261A>C	c.(3259-3261)acA>acC	p.T1087T	NRK_ENST00000243300.9_Silent_p.T1086T			Q7Z2Y5	NRK_HUMAN	Nik related kinase	1086							ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.T1087T(1)		breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						GCTCAGAGACAGATGGTCCAG	0.468000										HNSCC(51;0.14)			17	85					0	0	0.004990	0	0
ABCG5	64240	broad.mit.edu	37	2	44065079	44065079	+	Translation_Start_Site	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr2:44065079G>T	ENST00000543989.1	-	0	810				ABCG5_ENST00000405322.1_De_novo_Start_OutOfFrame|ABCG5_ENST00000260645.1_Silent_p.P53P			Q9H222	ABCG5_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 5						cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity	p.P53P(1)		breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TGTCCCACCAGGGCCTCACGC	0.587000													5	66					1.23904e-05	1.63121e-05	0.000602	1	0
OR6Y1	391112	broad.mit.edu	37	1	158517803	158517803	+	Silent	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr1:158517803G>T	ENST00000302617.3	-	1	92	c.93C>A	c.(91-93)ctC>ctA	p.L31L		NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y, member 1	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L31L(1)		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)					TGGAGAAAAAGAGAAGCTGGA	0.453000													18	73					5.03518e-11	8.09578e-11	0.007413	1	0
C12orf40	283461	broad.mit.edu	37	12	40114727	40114727	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr12:40114727G>A	ENST00000324616.5	+	13	1787	c.1633G>A	c.(1633-1635)Gac>Aac	p.D545N		NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	545								p.D545N(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						TAAAAACGATGACAAAATTCA	0.338000													8	92					0	0	0.003080	0	0
CCDC144A	9720	broad.mit.edu	37	17	16612677	16612677	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr17:16612677G>C	ENST00000443444.2	+	5	1446	c.1306G>C	c.(1306-1308)Gtt>Ctt	p.V436L	RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.V436L|CCDC144A_ENST00000360524.8_Missense_Mutation_p.V436L|CCDC144A_ENST00000340621.5_Missense_Mutation_p.V435L|CCDC144A_ENST00000399273.1_Missense_Mutation_p.V436L|CCDC144A_ENST00000456009.1_Intron			A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	436								p.V436L(1)									CCCAGAAGTGGTTATGGTTGA	0.353000													4	53					0	0	0.000602	0	0
DDI1	414301	broad.mit.edu	37	11	103908282	103908282	+	Silent	SNP	C	C	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr11:103908282C>G	ENST00000302259.3	+	1	975	c.732C>G	c.(730-732)ctC>ctG	p.L244L	PDGFD_ENST00000393158.2_Intron|PDGFD_ENST00000302251.5_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	244					proteolysis		aspartic-type endopeptidase activity	p.L244L(2)		central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		TGACGATGCTCTACATTAACT	0.468000													27	131					0	0	0.008361	0	0
CEP135	9662	broad.mit.edu	37	4	56874539	56874539	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr4:56874539C>T	ENST00000257287.4	+	18	2451	c.2327C>T	c.(2326-2328)tCa>tTa	p.S776L		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	776					centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					GAGTGTGAATCATCTGTGAAG	0.303000													6	69					0	0	0.001984	0	0
TUBB8	347688	broad.mit.edu	37	10	93572	93572	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr10:93572C>A	ENST00000447903.2	-	4	859	c.544G>T	c.(544-546)Gcc>Tcc	p.A182S	TUBB8_ENST00000309812.4_Missense_Mutation_p.A254S|TUBB8_ENST00000332708.5_3'UTR|TUBB8_ENST00000413237.3_5'UTR			Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII	254					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	p.A254S(1)		NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		ATGTTCACGGCCAGCTTCCGC	0.637000													4	41					3.07112e-06	4.18722e-06	0.000978	1	0
MYH11	4629	broad.mit.edu	37	16	15815397	15815397	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr16:15815397G>C	ENST00000338282.6	-	32	4566	c.4460C>G	c.(4459-4461)tCc>tGc	p.S1487C	MYH11_ENST00000452625.2_Missense_Mutation_p.S1494C|NDE1_ENST00000396355.1_Intron|MYH11_ENST00000396324.3_Missense_Mutation_p.S1494C|MYH11_ENST00000300036.5_Missense_Mutation_p.S1487C|MYH11_ENST00000576790.1_Missense_Mutation_p.S1487C|NDE1_ENST00000396354.1_Intron|NDE1_ENST00000342673.5_Intron	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1487					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	p.S1494C(1)|p.S1487C(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CCGAGCCAGGGACAGGGCCTT	0.537000			T	CBFB	AML								4	78					0	0	0.000248	0	0
PALM2-AKAP2	445815	broad.mit.edu	37	9	112900009	112900009	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr9:112900009G>A	ENST00000374530.3	+	8	2365	c.2185G>A	c.(2185-2187)Gac>Aac	p.D729N	PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.D729N|AKAP2_ENST00000555236.1_Missense_Mutation_p.D729N|AKAP2_ENST00000259318.7_Missense_Mutation_p.D498N|AKAP2_ENST00000510514.5_Missense_Mutation_p.D729N|AKAP2_ENST00000434623.2_Missense_Mutation_p.D587N|AKAP2_ENST00000374525.1_Missense_Mutation_p.D587N	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN		498							enzyme binding	p.D587N(1)|p.D729N(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						TTTCAGCATGGACAACATCAG	0.507000													20	89					0	0	0.001523	0	0
OR9K2	441639	broad.mit.edu	37	12	55523851	55523851	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr12:55523851C>G	ENST00000305377.5	+	1	387	c.299C>G	c.(298-300)tCt>tGt	p.S100C		NM_001005243.1	NP_001005243.1	Q8NGE7	OR9K2_HUMAN	olfactory receptor, family 9, subfamily K, member 2	100					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S100C(1)		NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						TTCTATTCATCTGTTATTGAA	0.418000													15	205					0	0	0.002450	0	0
CSGALNACT2	55454	broad.mit.edu	37	10	43650878	43650878	+	Missense_Mutation	SNP	G	G	T	rs150048164		TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr10:43650878G>T	ENST00000374466.3	+	2	616	c.281G>T	c.(280-282)cGg>cTg	p.R94L	CSGALNACT2_ENST00000374464.1_Missense_Mutation_p.R94L	NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	94					chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	Golgi cisterna membrane|integral to Golgi membrane	glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding	p.R94L(1)		endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GAGAAGATGCGGTCACTGCAA	0.423000													14	46					1.05317e-09	1.62943e-09	0.002450	1	0
EPB41L3	23136	broad.mit.edu	37	18	5443878	5443878	+	Splice_Site	SNP	T	T	C			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr18:5443878T>C	ENST00000341928.2	-	5	828	c.486_splice	c.e5-1	p.N163_splice	EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000544123.1_Splice_Site_p.N163_splice|EPB41L3_ENST00000540638.2_Splice_Site_p.N163_splice|EPB41L3_ENST00000400111.3_Splice_Site_p.N163_splice|EPB41L3_ENST00000342933.3_Splice_Site_p.N163_splice	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	163	FERM.				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	p.N163S(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						GTCCAACCAATTCTGAAAAGG	0.353000													6	106					0	0	0.001984	0	0
TLR9	54106	broad.mit.edu	37	3	52257634	52257634	+	Missense_Mutation	SNP	A	A	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr3:52257634A>G	ENST00000597542.1	-	9	1727	c.770T>C	c.(769-771)gTc>gCc	p.V257A	TLR9_ENST00000494383.1_Silent_p.R386R|TLR9_ENST00000360658.2_Missense_Mutation_p.V233A			Q9NR96	TLR9_HUMAN	toll-like receptor 9	233					defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity	p.V233A(1)		endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	CGCCAGTTTGACGATGCGGTT	0.607000													3	23					0	0	0.004672	0	0
DDHD2	23259	broad.mit.edu	37	8	38110567	38110567	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr8:38110567C>G	ENST00000397166.2	+	15	2338	c.1813C>G	c.(1813-1815)Cca>Gca	p.P605A	DDHD2_ENST00000517385.1_Missense_Mutation_p.P224A|DDHD2_ENST00000520272.2_Missense_Mutation_p.P605A|DDHD2_ENST00000529845.1_Missense_Mutation_p.P56A	NM_015214.2	NP_056029.2	O94830	DDHD2_HUMAN	DDHD domain containing 2	605	DDHD.				lipid catabolic process	centrosome	hydrolase activity|metal ion binding	p.P605A(1)		endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)			TACCAGAGCTCCATACCCTGC	0.473000													4	41					0	0	0.000248	0	0
RNF213	57674	broad.mit.edu	37	17	78280178	78280178	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr17:78280178G>T	ENST00000582970.1	+	12	2480	c.2337G>T	c.(2335-2337)gaG>gaT	p.E779D	RNF213_ENST00000456466.1_Missense_Mutation_p.E779D|RNF213_ENST00000508628.2_Missense_Mutation_p.E828D|RNF213_ENST00000319921.4_Missense_Mutation_p.E779D	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	779								p.E779D(2)|p.E828D(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			ACTTCATTGAGCACCTGGGTC	0.483000													21	77					2.27731e-05	2.97762e-05	0.001882	1	0
SEC16A	9919	broad.mit.edu	37	9	139360558	139360558	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr9:139360558C>A	ENST00000313050.7	-	6	4232	c.4159G>T	c.(4159-4161)Gcc>Tcc	p.A1387S	SEC16A_ENST00000371706.3_Missense_Mutation_p.A1209S|SEC16A_ENST00000431893.2_Missense_Mutation_p.A1209S|SEC16A_ENST00000290037.6_Missense_Mutation_p.A1209S	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	1209					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		p.A1387S(2)		breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		TAGGAACCGGCAGCCACATTG	0.522000													13	68					2.31682e-05	3.0224e-05	0.003163	1	0
KIDINS220	57498	broad.mit.edu	37	2	8919884	8919884	+	Nonsense_Mutation	SNP	G	G	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr2:8919884G>A	ENST00000256707.3	-	18	2471	c.2290C>T	c.(2290-2292)Cag>Tag	p.Q764*	KIDINS220_ENST00000427284.1_Nonsense_Mutation_p.Q764*|KIDINS220_ENST00000319688.5_Nonsense_Mutation_p.Q765*|KIDINS220_ENST00000418530.1_Nonsense_Mutation_p.Q722*|KIDINS220_ENST00000473731.1_Nonsense_Mutation_p.Q764*	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	764	KAP NTPase.				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane		p.Q764*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GTCTGATTCTGAGTGAAGCTG	0.458000													12	49					0	0	0.000978	0	0
KRT36	8689	broad.mit.edu	37	17	39644973	39644973	+	Silent	SNP	G	G	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr17:39644973G>A	ENST00000393986.2	-	3	525	c.313C>T	c.(313-315)Ctg>Ttg	p.L105L	KRT36_ENST00000328119.6_Silent_p.L155L			O76013	KRT36_HUMAN	keratin 36	155	Coil 1A.|Rod.					intermediate filament	protein binding|structural constituent of epidermis	p.L155L(1)		breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				TTAGTCAGCAGGATCTGGGGA	0.572000													7	103					0	0	0.001984	0	0
CCBL1	883	broad.mit.edu	37	9	131597812	131597812	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr9:131597812C>G	ENST00000436267.2	-	12	1421	c.1272G>C	c.(1270-1272)aaG>aaC	p.K424N	CCBL1_ENST00000302586.3_Missense_Mutation_p.K330N|CCBL1_ENST00000483599.1_5'UTR|CCBL1_ENST00000320665.6_Missense_Mutation_p.K280N			Q16773	KAT1_HUMAN	cysteine conjugate-beta lyase, cytoplasmic	330					kynurenine metabolic process|L-phenylalanine catabolic process|tryptophan catabolic process	cytosol|nucleus	1-aminocyclopropane-1-carboxylate synthase activity|cysteine-S-conjugate beta-lyase activity|glutamine-phenylpyruvate transaminase activity|kynurenine-oxoglutarate transaminase activity|L-glutamine:pyruvate aminotransferase activity|L-phenylalanine:pyruvate aminotransferase activity|protein homodimerization activity|pyridoxal phosphate binding	p.K330N(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)	18					L-Glutamine(DB00130)|Pyridoxal Phosphate(DB00114)	GGATGATGGGCTTCAGGCCCA	0.602000													4	108					0	0	0.000248	0	0
ABCG1	9619	broad.mit.edu	37	21	43705992	43705992	+	Silent	SNP	T	T	C			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr21:43705992T>C	ENST00000398437.1	+	9	1447	c.1299T>C	c.(1297-1299)ctT>ctC	p.L433L	ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000347800.2_Silent_p.L284L|ABCG1_ENST00000398457.2_Silent_p.L289L|ABCG1_ENST00000398449.3_Silent_p.L287L|ABCG1_ENST00000340588.4_Silent_p.L395L|ABCG1_ENST00000343687.3_Silent_p.L298L|ABCG1_ENST00000361802.2_Silent_p.L287L			P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	287	ABC transmembrane type-2.				amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity	p.L289L(1)|p.L287L(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	TTTTCCAGCTTTACGTCCTGA	0.483000													9	237					0	0	0.006214	0	0
ASTN2	23245	broad.mit.edu	37	9	119858343	119858343	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr9:119858343C>G	ENST00000313400.4	-	5	1356	c.1256G>C	c.(1255-1257)cGc>cCc	p.R419P	ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_Missense_Mutation_p.R368P|ASTN2_ENST00000373996.3_Missense_Mutation_p.R419P			O75129	ASTN2_HUMAN	astrotactin 2	419						integral to membrane		p.R368P(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						GCGGCGACTGCGGTACTGCTC	0.507000													5	60					0	0	0.001168	0	0
SI	6476	broad.mit.edu	37	3	164735354	164735354	+	Silent	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr3:164735354C>A	ENST00000264382.3	-	31	3803	c.3741G>T	c.(3739-3741)gtG>gtT	p.V1247V		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1247	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	p.V1247V(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TGTTAGCAGCCACCATAGCGT	0.338000										HNSCC(35;0.089)			6	42					0.00198382	0.00231917	0.001984	1	0
APOC2	344	broad.mit.edu	37	19	45452505	45452505	+	Nonstop_Mutation	SNP	A	A	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr19:45452505A>T	ENST00000590360.1	+	4	427	c.305A>T	c.(304-306)tAa>tTa	p.*102L	APOC4-APOC2_ENST00000591597.1_3'UTR|APOC4-APOC2_ENST00000589057.1_Nonstop_Mutation_p.*179L|APOC4-APOC2_ENST00000252490.4_Nonstop_Mutation_p.*102L|APOC2_ENST00000585786.1_3'UTR|APOC4-APOC2_ENST00000419266.2_3'UTR					apolipoprotein C-II									p.*102L(1)		kidney(1)|large_intestine(1)|liver(1)|lung(3)	6	Lung NSC(12;0.00858)|all_lung(12;0.0197)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|Epithelial(262;0.174)		GGAGAGGAGTAACAGCCAGAC	0.542000													7	30					0	0	0.003080	0	0
OR2T4	127074	broad.mit.edu	37	1	248525228	248525228	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr1:248525228G>T	ENST00000366475.1	+	1	346	c.346G>T	c.(346-348)Gac>Tac	p.D116Y		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	116					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D116Y(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GATGCTCCTGGACCAGGTCAT	0.498000													19	333					4.96729e-08	7.23661e-08	0.008871	1	0
MCF2	4168	broad.mit.edu	37	X	138680577	138680577	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chrX:138680577C>A	ENST00000520602.1	-	20	2382	c.2097G>T	c.(2095-2097)caG>caT	p.Q699H	MCF2_ENST00000414978.1_Missense_Mutation_p.Q699H|MCF2_ENST00000370573.4_Missense_Mutation_p.Q639H|MCF2_ENST00000536274.1_Missense_Mutation_p.Q600H|MCF2_ENST00000370578.4_Missense_Mutation_p.Q784H|MCF2_ENST00000519895.1_Missense_Mutation_p.Q715H|MCF2_ENST00000338585.6_Missense_Mutation_p.Q655H|MCF2_ENST00000370576.4_Missense_Mutation_p.Q639H			P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	639	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity	p.Q639H(2)|p.Q715H(1)		NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					TCAACAATAACTGATATTTAG	0.303000													9	44					3.09899e-07	4.37056e-07	0.004482	1	0
RP1L1	94137	broad.mit.edu	37	8	10467736	10467736	+	Missense_Mutation	SNP	T	T	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr8:10467736T>A	ENST00000382483.3	-	4	4095	c.3872A>T	c.(3871-3873)cAg>cTg	p.Q1291L		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1291					intracellular signal transduction			p.Q1291L(1)		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)		TTCAGCTAACTGCTCCAGGTT	0.517000													16	140					0	0	0.004007	0	0
CSN1S1	1446	broad.mit.edu	37	4	70802196	70802196	+	Splice_Site	SNP	G	G	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr4:70802196G>A	ENST00000246891.4	+	6	201	c.153_splice	c.e6+1	p.R51_splice	CSN1S1_ENST00000444405.3_Splice_Site_p.R51_splice|CSN1S1_ENST00000507763.1_Splice_Site_p.R51_splice|CSN1S1_ENST00000507772.1_Splice_Site_p.R51_splice|CSN1S1_ENST00000505782.1_Splice_Site_p.R51_splice	NM_001890.1	NP_001881.1	P47710	CASA1_HUMAN	casein alpha s1	51						extracellular region	protein binding|transporter activity	p.R51K(1)		lung(5)|prostate(1)|upper_aerodigestive_tract(1)	7						GGTATGAACAGGGTAAGAAAC	0.274000													4	41					0	0	0.001168	0	0
IGSF11	152404	broad.mit.edu	37	3	118621429	118621429	+	Nonsense_Mutation	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr3:118621429C>A	ENST00000354673.2	-	9	1611	c.1231G>T	c.(1231-1233)Gaa>Taa	p.E411*	IGSF11_ENST00000393775.2_Nonsense_Mutation_p.E412*|IGSF11_ENST00000425327.2_Nonsense_Mutation_p.E411*|IGSF11_ENST00000441144.2_Nonsense_Mutation_p.E387*|IGSF11_ENST00000491903.1_Nonsense_Mutation_p.E384*|IGSF11_ENST00000489689.1_Nonsense_Mutation_p.E388*	NM_152538.2	NP_689751.2	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11	412					cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity	p.E411*(1)|p.E412*(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CCAATTCGTTCCAGTGTTGCG	0.522000													16	128					2.23348e-06	3.07439e-06	0.004007	1	0
BCLAF1	9774	broad.mit.edu	37	6	136594278	136594278	+	Missense_Mutation	SNP	A	A	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr6:136594278A>T	ENST00000531224.1	-	7	2152	c.1900T>A	c.(1900-1902)Tcg>Acg	p.S634T	BCLAF1_ENST00000527759.1_Missense_Mutation_p.S632T|BCLAF1_ENST00000530767.1_Missense_Mutation_p.S461T|BCLAF1_ENST00000353331.4_Missense_Mutation_p.S632T|BCLAF1_ENST00000392348.2_Missense_Mutation_p.S632T|BCLAF1_ENST00000527536.1_Missense_Mutation_p.S634T	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	634					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	p.S634T(1)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TTCTGATACGAAGTGAACCGC	0.393000													10	317					0	0	0.008291	0	0
PCNXL2	80003	broad.mit.edu	37	1	233225832	233225832	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr1:233225832C>A	ENST00000258229.8	-	23	4285	c.4051G>T	c.(4051-4053)Gtg>Ttg	p.V1351L		NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1351						integral to membrane		p.V1351L(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				CAGAATTTCACTGGCCTGACA	0.423000													22	64					2.70639e-06	3.70756e-06	0.002299	1	0
BAHD1	22893	broad.mit.edu	37	15	40757633	40757633	+	Splice_Site	SNP	A	A	T			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr15:40757633A>T	ENST00000561234.1	+	6	2408	c.2150_splice	c.e6+1	p.R717_splice	BAHD1_ENST00000416165.1_Splice_Site_p.R718_splice|BAHD1_ENST00000560846.1_Splice_Site_p.R715_splice|RP11-64K12.8_ENST00000559730.1_RNA			Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	718	BAH.				heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding	p.R718W(1)		NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		CGAGTACTGCAGGTAGGTGGT	0.557000													8	35					0	0	0.004482	0	0
LRP1B	53353	broad.mit.edu	37	2	141299393	141299393	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr2:141299393G>C	ENST00000389484.3	-	44	8313	c.7342C>G	c.(7342-7344)Cat>Gat	p.H2448D		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2448					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.H2448D(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATTGGCTGATGTGGAATATCG	0.383000										TSP Lung(27;0.18)			12	132					0	0	0.001855	0	0
KIF1B	23095	broad.mit.edu	37	1	10421840	10421840	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr1:10421840C>G	ENST00000377086.1	+	40	4463	c.4261C>G	c.(4261-4263)Ctg>Gtg	p.L1421V	KIF1B_ENST00000263934.6_Missense_Mutation_p.L1375V|KIF1B_ENST00000377081.1_Missense_Mutation_p.L1421V|KIF1B_ENST00000465635.1_3'UTR			O60333	KIF1B_HUMAN	kinesin family member 1B	1421					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding	p.L1375V(1)		breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		ACCACGCTCTCTGCGTAGCCT	0.488000													7	110					0	0	0.001984	0	0
BAI2	576	broad.mit.edu	37	1	32203823	32203823	+	Frame_Shift_Del	DEL	A	A	-			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr1:32203823delA	ENST00000373658.3	-	18	3091	c.2750delT	c.(2749-2751)cafs	p.L917fs	BAI2_ENST00000527361.1_Frame_Shift_Del_p.L917fs|BAI2_ENST00000398547.1_Frame_Shift_Del_p.L850fs|BAI2_ENST00000398538.1_Frame_Shift_Del_p.L905fs|BAI2_ENST00000398556.3_Frame_Shift_Del_p.L865fs|BAI2_ENST00000257070.4_Frame_Shift_Del_p.L917fs|BAI2_ENST00000398542.1_Frame_Shift_Del_p.L850fs|BAI2_ENST00000373655.2_Frame_Shift_Del_p.L917fs|BAI2_ENST00000440175.2_Frame_Shift_Del_p.L559fs	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	917	GPS.				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		CGGCTGGGCTAGTACAGCAAA	0.617													7	34	---	---	---	---					
OR1C1	26188	broad.mit.edu	37	1	247920769	247920769	+	Frame_Shift_Del	DEL	G	G	-			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr1:247920769delG	ENST00000408896.2	-	1	1213	c.940delC	c.(940-942)aafs	p.Q314fs		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	314					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			GGTCATTATTGCTGCTGAAAG	0.408													51	134	---	---	---	---					
ZEB2	9839	broad.mit.edu	37	2	145157401	145157401	+	Frame_Shift_Del	DEL	G	G	-			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr2:145157401delG	ENST00000558170.2	-	8	2537	c.1353delC	c.(1351-1353)ccfs	p.P451fs	ZEB2_ENST00000409487.3_Frame_Shift_Del_p.P451fs|ZEB2_ENST00000539609.3_Frame_Shift_Del_p.P427fs|ZEB2_ENST00000303660.4_Frame_Shift_Del_p.P451fs	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	451	SMAD-MH2 binding domain (By similarity).					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		TATTCATGGTGGGAAACCCAA	0.453													14	70	---	---	---	---					
PLCL1	5334	broad.mit.edu	37	2	198950220	198950220	+	Frame_Shift_Del	DEL	G	G	-			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr2:198950220delG	ENST00000428675.1	+	2	2377	c.1979delG	c.(1978-1980)tgfs	p.W660fs	PLCL1_ENST00000437704.2_Frame_Shift_Del_p.W562fs	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	660	PI-PLC Y-box.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	CAGGACTTTTGGAATTGTGGC	0.413													13	74	---	---	---	---					
GMPPA	29926	broad.mit.edu	37	2	220366738	220366738	+	Frame_Shift_Del	DEL	T	T	-			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr2:220366738delT	ENST00000358215.3	+	5	777	c.408delT	c.(406-408)ccfs	p.P136fs	AC053503.11_ENST00000429882.1_RNA|GMPPA_ENST00000341142.3_Frame_Shift_Del_p.P136fs|GMPPA_ENST00000313597.5_Frame_Shift_Del_p.P136fs|GMPPA_ENST00000373908.1_Frame_Shift_Del_p.P136fs|GMPPA_ENST00000373917.3_Frame_Shift_Del_p.P136fs	NM_205847.2	NP_995319.1	Q96IJ6	GMPPA_HUMAN	GDP-mannose pyrophosphorylase A	136					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20		Renal(207;0.0183)		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)		AGCGTCACCCTTTCTTACTCC	0.597													18	169	---	---	---	---					
CLOCK	9575	broad.mit.edu	37	4	56336954	56336954	+	Frame_Shift_Del	DEL	A	A	-			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr4:56336954delA	ENST00000309964.4	-	7	618	c.368delT	c.(367-369)tafs	p.L123fs	CLOCK_ENST00000513440.1_Frame_Shift_Del_p.L123fs|CLOCK_ENST00000381322.1_Frame_Shift_Del_p.L123fs	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	123	PAS 1.				circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.L123fs*1(2)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			CATGATTGCTAAAAAAAAACC	0.289													7	131	---	---	---	---					
ADAMTS12	81792	broad.mit.edu	37	5	33649781	33649781	+	Frame_Shift_Del	DEL	C	C	-			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr5:33649781delC	ENST00000504830.1	-	8	1547	c.1212delG	c.(1210-1212)ggfs	p.G404fs	ADAMTS12_ENST00000352040.3_Frame_Shift_Del_p.G404fs|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	404	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CATTTTCTTTCCCATCATGCT	0.532										HNSCC(64;0.19)			8	90	---	---	---	---					
FBXO38	81545	broad.mit.edu	37	5	147793698	147793698	+	Splice_Site	DEL	G	G	-			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr5:147793698delG	ENST00000340253.5	+	10	1261		c.e10-1		FBXO38_ENST00000394370.3_Splice_Site|FBXO38_ENST00000296701.6_Splice_Site|FBXO38_ENST00000513826.1_Splice_Site			Q6PIJ6	FBX38_HUMAN	F-box protein 38							cytoplasm|nucleus			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTCTTTTTAGGCAGAATGGC	0.358													12	94	---	---	---	---					
AC008163.4	0	broad.mit.edu	37	7	81183087	81183087	+	RNA	DEL	C	C	-			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr7:81183087delC	ENST00000412900.2	-	0	438																											gaaagactgtccttgccatcc	0.403													2	4	---	---	---	---					
SERPING1	710	broad.mit.edu	37	11	57367632	57367640	+	In_Frame_Del	DEL	CAGATTCTC	CAGATTCTC	-			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr11:57367632_57367640delCAGATTCTC	ENST00000403558.1	+	2	800_808	c.434_442delCAGATTCTC	c.(433-444)act>a	p.TDSP145del	SERPING1_ENST00000278407.4_In_Frame_Del_p.TDSP111del|SERPING1_ENST00000378323.4_In_Frame_Del_p.TDSP116del|SERPING1_ENST00000378324.2_In_Frame_Del_p.TDSP59del|SERPING1_ENST00000340687.6_In_Frame_Del_p.TDSP111del	NM_001032295.1	NP_001027466.1	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G (C1 inhibitor), member 1	111					blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity	p.S113Y(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						cagctcccaacagattctcctacccagcc	0.550													11	107	---	---	---	---					
TAS2R20	259295	broad.mit.edu	37	12	11149674	11149674	+	Frame_Shift_Del	DEL	A	A	-			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr12:11149674delA	ENST00000538986.1	-	1	800	c.801delT	c.(799-801)ttfs	p.F267fs	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176889.2	NP_795370.2	P59543	T2R20_HUMAN	taste receptor, type 2, member 20	267					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						ATATGATTCCAAAAGCTTGGC	0.383													26	107	---	---	---	---					
MYH8	4626	broad.mit.edu	37	17	10322075	10322076	+	Frame_Shift_Ins	INS	-	-	A			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr17:10322075_10322076insA	ENST00000403437.2	-	5	491_492	c.397_398insT	c.(397-399)gctfs	p.A133fs	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	133	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CACCGGCAGCCACTTGTAGGGG	0.530									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				18	145	---	---	---	---					
MUC16	94025	broad.mit.edu	37	19	9084723	9084723	+	Frame_Shift_Del	DEL	G	G	-			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr19:9084723delG	ENST00000397910.4	-	1	7295	c.7092delC	c.(7090-7092)ccfs	p.P2364fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2364	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGCTATCTGAGGGGAGCTCAT	0.438													17	63	---	---	---	---					
AC008984.2	0	broad.mit.edu	37	19	54843564	54843565	+	RNA	INS	-	-	C	rs144647366	by1000genomes	TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr19:54843564_54843565insC	ENST00000507363.1	-	0	430																											CGGCTGCTCCTCCCCAGGCTGC	0.723													4	4	---	---	---	---					
ERG	2078	broad.mit.edu	37	21	39772482	39772497	+	Splice_Site	DEL	GGGTGTTTTCGTACCT	GGGTGTTTTCGTACCT	-	rs67010649		TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr21:39772482_39772497delGGGTGTTTTCGTACCT	ENST00000417133.2	-	8	950_952	c.766_splice	c.e8+1	p.P255_splice	ERG_ENST00000453032.2_Splice_Site_p.P156_splice|ERG_ENST00000398897.1_Intron|ERG_ENST00000398919.2_Splice_Site_p.P255_splice|ERG_ENST00000442448.1_Intron|ERG_ENST00000398907.1_Splice_Site_p.P248_splice|ERG_ENST00000398910.1_Splice_Site_p.P255_splice|ERG_ENST00000398905.1_Intron|ERG_ENST00000398911.1_Intron|ERG_ENST00000288319.7_Splice_Site_p.P248_splice|ERG_ENST00000429727.2_Intron	NM_001136154.1|NM_001243432.1	NP_001129626.1|NP_001230361.1	P11308	ERG_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog	255					cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity		EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)				GATCACACAGGGGTGTTTTCGTACCTGGCCTAGTTG	0.468			T	"""EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"""	"""Ewing sarcoma, prostate, AML"""								8	158	---	---	---	---					
MX2	4600	broad.mit.edu	37	21	42752078	42752078	+	Splice_Site	DEL	G	G	-			TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr21:42752078delG	ENST00000330714.3	+	4	761	c.577_splice	c.e4+1	p.A193_splice	MX2_ENST00000543692.1_Intron	NM_002463.1	NP_002454.1	P20592	MX2_HUMAN	myxovirus (influenza virus) resistance 2 (mouse)	193					response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity			breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				GATACACAAAGGTGGGCCCAC	0.577													8	65	---	---	---	---					
CRELD2	79174	broad.mit.edu	37	22	50315936	50315973	+	Splice_Site	DEL	CCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCG	CCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCG	-	rs71805922	by1000genomes	TCGA-49-4487-01A-21D-1855-08	TCGA-49-4487-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bd8e303-a81e-4ff8-882b-d46a2f7c55d2	e723bda4-998c-4669-82a2-d392eb6b54be	g.chr22:50315936_50315973delCCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCG	ENST00000404488.3	+	6	727_756	c.592_splice	c.e6-1	p.198_splice	CRELD2_ENST00000328268.4_Intron|CRELD2_ENST00000444954.1_Intron|CRELD2_ENST00000403427.3_Intron|CRELD2_ENST00000407217.3_Intron	NM_001135101.1	NP_001128573.1	Q6UXH1	CREL2_HUMAN	cysteine-rich with EGF-like domains 2	197						endoplasmic reticulum|extracellular region	calcium ion binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|stomach(3)	9		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.198)|LUAD - Lung adenocarcinoma(64;0.247)		TTCTTACGCCCCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCGCCTTGCTGTC	0.622													2	4	---	---	---	---					
