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
SP7	121340	broad.mit.edu	37	12	53723022	53723022	+	Missense_Mutation	SNP	A	A	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:53723022A>T	ENST00000536324.2	-	3	487	c.204T>A	c.(202-204)ttT>ttA	p.F68L	SP7_ENST00000537210.2_Missense_Mutation_p.F50L|SP7_ENST00000303846.3_Missense_Mutation_p.F68L	NM_001173467.1	NP_001166938.1	Q8TDD2	SP7_HUMAN	Sp7 transcription factor	68					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(2)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	14						TAGTGCTTGTAAAGGGGGCTG	0.542000													30	139					0	0	1	0	0
TRBV6-1	28606	broad.mit.edu	37	7	142028501	142028501	+	RNA	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr7:142028501G>T	ENST00000390353.2	+	0	292																											CAAAGGAGAAGTCCCCAATGG	0.502000													42	142					1.96642e-18	2.19145e-18	1	1	0
EGR1	1958	broad.mit.edu	37	5	137801586	137801586	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr5:137801586C>A	ENST00000239938.4	+	1	408	c.136C>A	c.(136-138)Ccc>Acc	p.P46T		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	46					cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CAACGGGGCTCCCCAGTTCCT	0.687000													37	2					2.40579e-17	2.66685e-17	1	1	0
SERPINB2	5055	broad.mit.edu	37	18	61570328	61570328	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr18:61570328G>A	ENST00000457692.1	+	9	1370	c.1037G>A	c.(1036-1038)aGg>aAg	p.R346K	SERPINB2_ENST00000299502.4_Missense_Mutation_p.R346K	NM_001143818.1	NP_001137290.1	P05120	PAI2_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 2	346					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	extracellular space|Golgi apparatus|plasma membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	ATGTCGGAGAGGAATGACCTG	0.507000													8	28					0	0	1	0	0
HYOU1	10525	broad.mit.edu	37	11	118923444	118923444	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr11:118923444C>G	ENST00000404233.3	-	9	1016	c.892G>C	c.(892-894)Gat>Cat	p.D298H	HYOU1_ENST00000529972.1_Missense_Mutation_p.D298H|HYOU1_ENST00000543287.1_Missense_Mutation_p.D211H|HYOU1_ENST00000525859.1_Missense_Mutation_p.D298H	NM_001130991.1|NM_006389.3	NP_001124463.1|NP_006380.1	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1	298						endoplasmic reticulum lumen	ATP binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		TCCCGCACATCCTTTGCTCTC	0.612000													8	23					0	0	1	0	0
CMTM4	146223	broad.mit.edu	37	16	66651180	66651180	+	Nonstop_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr16:66651180C>G	ENST00000330687.4	-	5	886	c.705G>C	c.(703-705)taG>taC	p.*235Y		NM_178818.2|NM_181521.2	NP_848933.1|NP_852662.1	Q8IZR5	CKLF4_HUMAN	CKLF-like MARVEL transmembrane domain containing 4	0					chemotaxis	extracellular space|integral to membrane	cytokine activity			cervix(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0811)|Epithelial(162;0.214)		CTGAACTTTTCTAGGCAAGTT	0.363000													10	40					0	0	1	0	0
SOGA2	23255	broad.mit.edu	37	18	8793020	8793020	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr18:8793020G>C	ENST00000359865.3	+	8	2054	c.1912G>C	c.(1912-1914)Gag>Cag	p.E638Q	SOGA2_ENST00000306329.11_Intron|SOGA2_ENST00000517570.1_Intron|SOGA2_ENST00000400050.3_Intron|SOGA2_ENST00000518815.1_Intron|SOGA2_ENST00000306285.7_5'UTR	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN	SOGA family member 2	980																	CGTTTTACCTGAGCAGAGTGT	0.527000													40	130					0	0	1	0	0
LAMB1	3912	broad.mit.edu	37	7	107566684	107566684	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr7:107566684C>G	ENST00000393561.1	-	30	5264	c.5080G>C	c.(5080-5082)Gaa>Caa	p.E1694Q	LAMB1_ENST00000222399.6_Missense_Mutation_p.E1670Q			P07942	LAMB1_HUMAN	laminin, beta 1	1670	Domain I.				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			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)	TCAATATATTCTGCCTCCCCG	0.423000													15	81					0	0	1	0	0
PCDHB1	29930	broad.mit.edu	37	5	140432144	140432144	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr5:140432144G>C	ENST00000306549.3	+	1	1166	c.1089G>C	c.(1087-1089)caG>caC	p.Q363H		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		363	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CACCACCACAGACAGTAGTAG	0.502000													19	31					0	0	1	0	0
CCDC74B	91409	broad.mit.edu	37	2	130900698	130900698	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:130900698C>T	ENST00000409234.3	-	2	525	c.439G>A	c.(439-441)Gct>Act	p.A147T	CCDC74B_ENST00000409943.3_Intron|CCDC74B_ENST00000409128.1_Intron|CCDC74B_ENST00000392984.3_5'UTR|CCDC74B_ENST00000310463.6_Intron			Q96LY2	CC74B_HUMAN	coiled-coil domain containing 74B	285										endometrium(2)|large_intestine(1)|lung(3)	6	Colorectal(110;0.1)					CTAGAGGTAGCGGCATCTGTC	0.647000													3	14					0	0	1	0	0
DAGLA	747	broad.mit.edu	37	11	61488339	61488339	+	Missense_Mutation	SNP	A	A	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr11:61488339A>C	ENST00000257215.5	+	3	400	c.284A>C	c.(283-285)cAg>cCg	p.Q95P		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	95					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		GACTCCATGCAGTACGTGCTC	0.612000													20	44					0	0	1	0	0
GPR113	165082	broad.mit.edu	37	2	26532908	26532908	+	Silent	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:26532908C>G	ENST00000311519.1	-	13	3143	c.3144G>C	c.(3142-3144)gtG>gtC	p.V1048V	GPR113_ENST00000333478.6_Intron|GPR113_ENST00000421160.2_Intron|GPR113_ENST00000459892.1_Intron|GPR113_ENST00000541401.1_Intron	NM_001145168.1	NP_001138640.1	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	1048					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCAGCAACTCACCAGGGAGA	0.572000													14	76					0	0	1	0	0
ILF2	3608	broad.mit.edu	37	1	153638142	153638142	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:153638142C>T	ENST00000361891.4	-	7	582	c.457G>A	c.(457-459)Gaa>Aaa	p.E153K		NM_001267809.1|NM_004515.3	NP_001254738.1|NP_004506.2	Q12905	ILF2_HUMAN	interleukin enhancer binding factor 2	153	DZF.				immune response|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|ribonucleoprotein complex	ATP binding|DNA binding|double-stranded RNA binding|protein binding|transferase activity			cervix(1)|kidney(1)|lung(4)|skin(1)	7	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGCAAACCTTCAGAAGGATCC	0.388000													8	145					0	0	1	0	0
CCDC88A	55704	broad.mit.edu	37	2	55559821	55559821	+	Silent	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:55559821C>A	ENST00000436346.1	-	16	3577	c.2736G>T	c.(2734-2736)gtG>gtT	p.V912V	AC012358.8_ENST00000600219.1_RNA|CCDC88A_ENST00000336838.6_Silent_p.V912V|AC012358.8_ENST00000594078.1_RNA|CCDC88A_ENST00000263630.8_Silent_p.V912V|CCDC88A_ENST00000413716.2_Silent_p.V912V|AC012358.8_ENST00000599475.1_RNA|AC012358.8_ENST00000608103.1_RNA|AC012358.8_ENST00000599352.1_RNA	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	912					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						ACTTTTCACTCACCAAATCCT	0.353000													10	80					3.07112e-06	3.20331e-06	1	1	0
ZHX1	11244	broad.mit.edu	37	8	124267094	124267094	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr8:124267094G>C	ENST00000395571.3	-	3	1710	c.1093C>G	c.(1093-1095)Cag>Gag	p.Q365E	ZHX1-C8ORF76_ENST00000357082.4_Intron|ZHX1_ENST00000297857.2_Missense_Mutation_p.Q365E|ZHX1_ENST00000522655.1_Missense_Mutation_p.Q365E	NM_001017926.2|NM_007222.4	NP_001017926.1|NP_009153.3	Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	365	Required for dimerization.|Required for interaction with NFYA.				negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			GTTATGGTCTGAGGTACAGTA	0.433000													38	241					0	0	1	0	0
CAPN9	10753	broad.mit.edu	37	1	230937333	230937333	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:230937333G>T	ENST00000354537.1	+	19	2068	c.1986G>T	c.(1984-1986)atG>atT	p.M662I	CAPN9_ENST00000366666.2_Missense_Mutation_p.M625I|CAPN9_ENST00000271971.2_Missense_Mutation_p.M688I|CAPN9_ENST00000480004.1_3'UTR	NM_016452.1	NP_057536.1	O14815	CAN9_HUMAN	calpain 9	688	Domain IV.				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				ATTTGACAATGAACATCTGAG	0.532000													22	63					1.22574e-08	1.30063e-08	1	1	0
ALMS1	7840	broad.mit.edu	37	2	73678860	73678860	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:73678860C>G	ENST00000264448.6	+	8	5314	c.5203C>G	c.(5203-5205)Ctg>Gtg	p.L1735V	ALMS1_ENST00000377715.1_Missense_Mutation_p.L1735V|ALMS1_ENST00000409009.1_Missense_Mutation_p.L1693V	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1735	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TCAAGAAGCTCTGAAAGTTTC	0.423000													75	120					0	0	1	0	0
OR52B4	143496	broad.mit.edu	37	11	4389102	4389102	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr11:4389102G>C	ENST00000408920.2	-	1	514	c.424C>G	c.(424-426)Ctg>Gtg	p.L142V		NM_001005161.3	NP_001005161.2	Q8NGK2	O52B4_HUMAN	olfactory receptor, family 52, subfamily B, member 4	142					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTCTTGATCAGAGCATTTGTA	0.388000													14	31					0	0	1	0	0
ADA	100	broad.mit.edu	37	20	43255125	43255125	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr20:43255125C>A	ENST00000372874.4	-	4	468	c.334G>T	c.(334-336)Gtg>Ttg	p.V112L	ADA_ENST00000537820.1_Missense_Mutation_p.V112L|ADA_ENST00000464097.1_5'UTR	NM_000022.2	NP_000013.2	P00813	ADA_HUMAN	adenosine deaminase	112					adenosine catabolic process|cell adhesion|hypoxanthine salvage|inosine biosynthetic process|negative regulation of adenosine receptor signaling pathway|purine nucleotide salvage|purine ribonucleoside monophosphate biosynthetic process|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation	cell junction|cytoplasmic membrane-bounded vesicle lumen|cytosol|external side of plasma membrane|lysosome	adenosine deaminase activity|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(2)|prostate(3)|skin(2)|urinary_tract(1)	18		all_lung(126;1.24e-07)|Lung NSC(126;1.94e-07)|Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)		Adenosine(DB00640)|Cladribine(DB00242)|Dipyridamole(DB00975)|Erythromycin(DB00199)|Fludarabine(DB01073)|Idoxuridine(DB00249)|Nelarabine(DB01280)|Pentostatin(DB00552)|Theophylline(DB00277)|Vidarabine(DB00194)	ATTGGCTCCACTTTGGAGTTG	0.582000									Adenosine Deaminase Deficiency				14	54					6.31663e-08	6.67538e-08	1	1	0
KMT2C	58508	broad.mit.edu	37	7	151962147	151962147	+	Missense_Mutation	SNP	T	T	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr7:151962147T>A	ENST00000355193.2	-	8	1378	c.1160A>T	c.(1159-1161)gAg>gTg	p.E387V	KMT2C_ENST00000262189.6_Missense_Mutation_p.E387V					lysine (K)-specific methyltransferase 2C																		CACTTTGCACTCAGGACATTG	0.413000													22	241					0	0	1	0	0
OR13C3	138803	broad.mit.edu	37	9	107298688	107298688	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr9:107298688G>A	ENST00000374781.2	-	1	449	c.407C>T	c.(406-408)gCa>gTa	p.A136V		NM_001001961.1	NP_001001961.1	Q8NGS6	O13C3_HUMAN	olfactory receptor, family 13, subfamily C, member 3	136					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						TGACCCCATTGCAAACCCAAA	0.453000													53	87					0	0	1	0	0
RAPGEF4	11069	broad.mit.edu	37	2	173891907	173891907	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:173891907G>T	ENST00000264111.6	+	25	2662	c.2475G>T	c.(2473-2475)tgG>tgT	p.W825C	RAPGEF4_ENST00000538974.1_Missense_Mutation_p.W655C|RAPGEF4_ENST00000539331.1_Missense_Mutation_p.W673C|RAPGEF4_ENST00000409036.1_Missense_Mutation_p.W826C|RAPGEF4_ENST00000540783.1_Missense_Mutation_p.W673C|RAPGEF4_ENST00000397081.3_Missense_Mutation_p.W826C|RAPGEF4_ENST00000535187.1_Missense_Mutation_p.W606C|RAPGEF4_ENST00000397087.3_Missense_Mutation_p.W682C			Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	826	Ras-GEF.				blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			TTCAGTTTTGGGTCGTCACTG	0.373000													59	7					1.20869e-33	1.36601e-33	1	1	0
LONP2	83752	broad.mit.edu	37	16	48368170	48368170	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr16:48368170C>T	ENST00000285737.4	+	12	1932	c.1839C>T	c.(1837-1839)atC>atT	p.I613I	LONP2_ENST00000535754.1_Silent_p.I569I	NM_031490.2	NP_113678.2	Q86WA8	LONP2_HUMAN	lon peptidase 2, peroxisomal	613					misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						CTGAATCTATCAGTGACACTA	0.393000													24	77					0	0	1	0	0
FAM178A	55719	broad.mit.edu	37	10	102672946	102672946	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr10:102672946C>G	ENST00000238961.4	+	1	621	c.79C>G	c.(79-81)Ctg>Gtg	p.L27V	FAM178A_ENST00000609386.1_Missense_Mutation_p.L27V|FAM178A_ENST00000370269.3_Missense_Mutation_p.L27V|FAM178A_ENST00000370271.3_Missense_Mutation_p.L27V	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A																		GCGCTGCCATCTGAGACCCGG	0.697000													5	2					0	0	1	0	0
S100A8	6279	broad.mit.edu	37	1	153362985	153362985	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:153362985C>G	ENST00000368733.3	-	2	196	c.27G>C	c.(25-27)ttG>ttC	p.L9F	S100A8_ENST00000477801.1_5'UTR|S100A8_ENST00000368732.1_Missense_Mutation_p.L9F	NM_002964.4	NP_002955.2	P05109	S10A8_HUMAN	S100 calcium binding protein A8	9					chemotaxis	cytoplasm|cytoskeleton|plasma membrane	calcium ion binding|protein binding			breast(1)|endometrium(1)|lung(1)|urinary_tract(1)	4	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGATAGAGTTCAAGGCTTTCT	0.507000													53	223					0	0	1	0	0
MPV17L2	84769	broad.mit.edu	37	19	18304802	18304802	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:18304802C>T	ENST00000599612.2	+	2	416	c.316C>T	c.(316-318)Cag>Tag	p.Q106*		NM_032683.2	NP_116072.2	Q567V2	M17L2_HUMAN	MPV17 mitochondrial membrane protein-like 2	106						integral to membrane				large_intestine(1)|lung(2)|urinary_tract(1)	4						CCTCGTGGATCAGCTGGTAGC	0.592000													13	34					0	0	1	0	0
PNMAL2	57469	broad.mit.edu	37	19	46998632	46998632	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:46998632C>T	ENST00000599531.1	-	1	1123	c.91G>A	c.(91-93)Gag>Aag	p.E31K	PNMAL2_ENST00000594749.1_Intron|AC011484.1_ENST00000377652.3_3'UTR|PNMAL2_ENST00000377655.2_Missense_Mutation_p.E31K	NM_020709.1	NP_065760.1	Q9ULN7	PNML2_HUMAN	paraneoplastic Ma antigen family-like 2	31										central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)	8		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		tctgcctgctccaggccctcc	0.667000													18	65					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33988667	33988667	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr15:33988667G>A	ENST00000389232.4	+	39	6179	c.6109G>A	c.(6109-6111)Gag>Aag	p.E2037K	RYR3_ENST00000415757.3_Missense_Mutation_p.E2037K	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2037	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.E2037K(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CAAGGAAGAGGAGTTGCTCAT	0.522000													20	15					0	0	1	0	0
SPINK5	11005	broad.mit.edu	37	5	147449904	147449904	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr5:147449904C>T	ENST00000359874.3	+	3	173	c.100C>T	c.(100-102)Cag>Tag	p.Q34*	SPINK5_ENST00000398454.1_Nonsense_Mutation_p.Q34*|SPINK5_ENST00000256084.7_Nonsense_Mutation_p.Q34*	NM_001127698.1	NP_001121170.1	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	34	Kazal-like 1; atypical.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCATGAATTTCAGGCATTTAT	0.303000													29	4					0	0	1	0	0
ADCY5	111	broad.mit.edu	37	3	123166643	123166643	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:123166643C>T	ENST00000462833.1	-	1	1962	c.750G>A	c.(748-750)gtG>gtA	p.V250V		NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	250					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		GGCACACGAGCACCAGCACGG	0.662000													8	30					0	0	1	0	0
LIG1	3978	broad.mit.edu	37	19	48640828	48640828	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:48640828G>A	ENST00000263274.7	-	13	1624	c.1205C>T	c.(1204-1206)tCc>tTc	p.S402F	LIG1_ENST00000536218.1_Missense_Mutation_p.S334F|LIG1_ENST00000427526.2_Missense_Mutation_p.S371F	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	402					anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding			breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	GAAGACCCCGGAGGCAGTGAG	0.677000								Nucleotide excision repair (NER)					33	25					0	0	1	0	0
TACSTD2	4070	broad.mit.edu	37	1	59042168	59042168	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:59042168C>A	ENST00000371225.2	-	1	998	c.661G>T	c.(661-663)Gat>Tat	p.D221Y		NM_002353.2	NP_002344.2	P09758	TACD2_HUMAN	tumor-associated calcium signal transducer 2	221					cell proliferation|cell surface receptor linked signaling pathway|visual perception	cytosol|integral to plasma membrane	receptor activity					all_cancers(7;6.54e-05)					TAGGCGGCATCGCCGATATCC	0.652000													7	14					8.12818e-05	8.37742e-05	1	1	0
OXSR1	9943	broad.mit.edu	37	3	38292922	38292922	+	Silent	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:38292922C>G	ENST00000311806.3	+	16	1776	c.1404C>G	c.(1402-1404)ctC>ctG	p.L468L		NM_005109.2	NP_005100.1	O95747	OXSR1_HUMAN	oxidative stress responsive 1	468					intracellular protein kinase cascade|response to oxidative stress		ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity			skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		CTCAGGAACTCATTTCTGCTG	0.468000													48	138					0	0	1	0	0
AHSG	197	broad.mit.edu	37	3	186334313	186334313	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:186334313C>G	ENST00000411641.2	+	3	625	c.406C>G	c.(406-408)Cca>Gca	p.P136A	AHSG_ENST00000273784.5_Missense_Mutation_p.P136A			P02765	FETUA_HUMAN	alpha-2-HS-glycoprotein	136					acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development	extracellular space	cysteine-type endopeptidase inhibitor activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1)	22	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)		TGATTCCAGTCCAGGTACAGA	0.413000													4	20					0	0	1	0	0
CELA3B	23436	broad.mit.edu	37	1	22303559	22303559	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:22303559C>T	ENST00000337107.6	+	1	46	c.27C>T	c.(25-27)ctC>ctT	p.L9L		NM_007352.2	NP_031378.1	P08861	CEL3B_HUMAN	chymotrypsin-like elastase family, member 3B	9					cholesterol metabolic process|proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						TCAGTTCCCTCCTCCTTGTGG	0.527000													59	196					0	0	1	0	0
FAM229B	619208	broad.mit.edu	37	6	112420507	112420507	+	Silent	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr6:112420507C>A	ENST00000368656.2	+	3	318	c.21C>A	c.(19-21)acC>acA	p.T7T	FAM229B_ENST00000604268.1_Silent_p.T7T	NM_001033564.1	NP_001028736.1			family with sequence similarity 229, member B																		AATTTGGAACCCAGCCAAGGA	0.428000													21	31					2.70639e-06	2.82571e-06	1	1	0
KIAA1549	57670	broad.mit.edu	37	7	138588413	138588413	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr7:138588413G>A	ENST00000440172.1	-	8	3638	c.3590C>T	c.(3589-3591)gCc>gTc	p.A1197V	KIAA1549_ENST00000242365.4_Missense_Mutation_p.A1147V|KIAA1549_ENST00000422774.1_Missense_Mutation_p.A1197V	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	1197						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GAGCAGCTGGGCCAGCTTGCG	0.532000			O	BRAF	pilocytic astrocytoma								6	21					0	0	1	0	0
NCOA1	8648	broad.mit.edu	37	2	24985619	24985619	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:24985619C>G	ENST00000405141.1	+	23	4840	c.4129C>G	c.(4129-4131)Ctc>Gtc	p.L1377V	NCOA1_ENST00000395856.3_Missense_Mutation_p.L1377V|NCOA1_ENST00000406961.1_Missense_Mutation_p.L1377V|NCOA1_ENST00000348332.3_Missense_Mutation_p.L1377V|NCOA1_ENST00000407230.1_Missense_Mutation_p.L1226V|NCOA1_ENST00000538539.1_Missense_Mutation_p.L1377V|NCOA1_ENST00000288599.5_Missense_Mutation_p.L1377V			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	1377									PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACTGACCTTCTCAAAACAGA	0.423000			T	PAX3	alveolar rhadomyosarcoma								51	261					0	0	1	0	0
CYP2A6	1548	broad.mit.edu	37	19	41352802	41352802	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:41352802G>C	ENST00000301141.5	-	5	829	c.809C>G	c.(808-810)tCc>tGc	p.S270C	CTC-490E21.12_ENST00000601627.1_Intron	NM_000762.5	NP_000753	P11509	CP2A6_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 6	270					coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)	37			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752)	GATGAGAAAGGAGTCAATGAA	0.582000													9	76					0	0	1	0	0
KLK6	5653	broad.mit.edu	37	19	51466738	51466738	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:51466738C>G	ENST00000376851.3	-	4	704	c.265G>C	c.(265-267)Gtt>Ctt	p.V89L	KLK6_ENST00000376853.4_Intron|KLK6_ENST00000391808.1_5'UTR|KLK6_ENST00000310157.2_Missense_Mutation_p.V89L|KLK6_ENST00000424910.2_Silent_p.L36L|KLK6_ENST00000594641.1_Missense_Mutation_p.V89L|CTB-147C22.8_ENST00000601506.1_RNA	NM_001012964.1	NP_001012982.1	Q92876	KLK6_HUMAN	kallikrein-related peptidase 6	89	Peptidase S1.				amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration	endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus	protein binding|serine-type endopeptidase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)		GCCCGGACAACAGAACTCTGC	0.572000													13	79					0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125405445	125405445	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:125405445G>A	ENST00000431078.1	+	13	2348	c.1984G>A	c.(1984-1986)Gaa>Aaa	p.E662K		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	662	Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GGGCAGCATGGAACAGCTGGA	0.627000													4	11					0	0	1	0	0
CYFIP1	23191	broad.mit.edu	37	15	22993125	22993125	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr15:22993125C>T	ENST00000313077.7	+	26	3137	c.3012C>T	c.(3010-3012)atC>atT	p.I1004I	CYFIP1_ENST00000560848.1_Silent_p.I1004I|CYFIP1_ENST00000435939.2_Silent_p.I573I	NM_014608.2	NP_055423.1	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1	1004					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		GGAACGCCATCCTCTTCTGCC	0.667000													41	23					0	0	1	0	0
LMO4	8543	broad.mit.edu	37	1	87805743	87805743	+	Missense_Mutation	SNP	C	C	T	rs139269304		TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:87805743C>T	ENST00000370544.5	+	4	1127	c.347C>T	c.(346-348)tCt>tTt	p.S116F	LMO4_ENST00000489303.1_3'UTR|LMO4_ENST00000370542.1_Missense_Mutation_p.S116F	NM_006769.3	NP_006760.1	P61968	LMO4_HUMAN	LIM domain only 4	116	LIM zinc-binding 2.				neural tube closure|transcription from RNA polymerase II promoter	transcription factor complex	sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(1)	9		Lung NSC(277;0.179)		all cancers(265;0.00456)|Epithelial(280;0.0148)|BRCA - Breast invasive adenocarcinoma(282;0.153)		TTTACATGCTCTACCTGCCGG	0.403000													55	45					0	0	1	0	0
NRCAM	4897	broad.mit.edu	37	7	107849877	107849877	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr7:107849877C>G	ENST00000379028.3	-	12	1533	c.1063G>C	c.(1063-1065)Gtt>Ctt	p.V355L	NRCAM_ENST00000379022.4_Missense_Mutation_p.V355L|NRCAM_ENST00000351718.4_Missense_Mutation_p.V349L|NRCAM_ENST00000413765.2_Missense_Mutation_p.V336L|NRCAM_ENST00000379024.4_Missense_Mutation_p.V336L|NRCAM_ENST00000425651.2_Missense_Mutation_p.V355L			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	355	Ig-like 3.				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						TTAACTCTAACAGAAATGGTA	0.338000													47	61					0	0	1	0	0
HORMAD1	84072	broad.mit.edu	37	1	150689625	150689625	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:150689625C>G	ENST00000368993.2	-	3	272	c.167G>C	c.(166-168)aGa>aCa	p.R56T	HORMAD1_ENST00000476530.1_5'UTR|HORMAD1_ENST00000322343.7_Missense_Mutation_p.R56T|HORMAD1_ENST00000368995.4_Missense_Mutation_p.K6N|HORMAD1_ENST00000361824.2_Missense_Mutation_p.R56T			Q86X24	HORM1_HUMAN	HORMA domain containing 1	56	HORMA.				blastocyst development|cell differentiation|meiotic DNA double-strand break formation|meiotic recombination checkpoint|meiotic sister chromatid cohesion|mitosis|oogenesis|regulation of homologous chromosome segregation|spermatogenesis|synaptonemal complex assembly	chromosome|nucleus				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(3)	16	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			ATCTAGATATCTTGTTCCATA	0.318000													25	127					0	0	1	0	0
RNF169	254225	broad.mit.edu	37	11	74547165	74547165	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr11:74547165C>G	ENST00000299563.4	+	6	1530	c.1517C>G	c.(1516-1518)tCt>tGt	p.S506C		NM_001098638.1	NP_001092108.1	Q8NCN4	RN169_HUMAN	ring finger protein 169	506							zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	15						CATTTCCCCTCTGTTAGCCAA	0.473000													50	122					0	0	1	0	0
PRPF8	10594	broad.mit.edu	37	17	1564447	1564447	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:1564447G>C	ENST00000572621.1	-	27	4613	c.4348C>G	c.(4348-4350)Cag>Gag	p.Q1450E	PRPF8_ENST00000304992.6_Missense_Mutation_p.Q1450E			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1450						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		AACGGATTCTGCTTCAAAACC	0.542000													45	5					0	0	1	0	0
TLN1	7094	broad.mit.edu	37	9	35698825	35698825	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr9:35698825C>G	ENST00000314888.9	-	53	7458	c.7105G>C	c.(7105-7107)Gaa>Caa	p.E2369Q	TLN1_ENST00000540444.1_Missense_Mutation_p.E2257Q	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	2369	I/LWEQ.				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GCCACTAGTTCTCTCTGGGCA	0.522000													15	30					0	0	1	0	0
PRRC2C	23215	broad.mit.edu	37	1	171482304	171482304	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:171482304G>C	ENST00000367742.3	+	3	525	c.283G>C	c.(283-285)Gaa>Caa	p.E95Q	PRRC2C_ENST00000338920.4_Missense_Mutation_p.E93Q|PRRC2C_ENST00000476522.1_3'UTR|PRRC2C_ENST00000392078.3_Missense_Mutation_p.E95Q|PRRC2C_ENST00000426496.2_Missense_Mutation_p.E93Q			Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	93							protein C-terminus binding										GCAACATGAAGAAGAAAAGTG	0.398000													7	26					0	0	1	0	0
IPO7	10527	broad.mit.edu	37	11	9450610	9450610	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr11:9450610G>A	ENST00000379719.3	+	14	1600	c.1458G>A	c.(1456-1458)gtG>gtA	p.V486V		NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	486					interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		TTTGTGAAGTGAAGTTCAAAA	0.388000													27	22					0	0	1	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232564265	232564265	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:232564265C>G	ENST00000366630.1	-	16	4660	c.4302G>C	c.(4300-4302)caG>caC	p.Q1434H	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.Q1434H|SIPA1L2_ENST00000308942.4_Missense_Mutation_p.Q508H			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1434					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				CCACCACTGTCTGATGCTGAG	0.443000													27	46					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152279938	152279938	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:152279938C>G	ENST00000368799.1	-	3	7459	c.7424G>C	c.(7423-7425)gGa>gCa	p.G2475A	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2475	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.G2475A(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)			GTAGTGGGATCCCTGCCTTCC	0.577000									Ichthyosis				136	337					0	0	1	0	0
CHD2	1106	broad.mit.edu	37	15	93545504	93545504	+	Missense_Mutation	SNP	A	A	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr15:93545504A>C	ENST00000394196.4	+	33	5303	c.4235A>C	c.(4234-4236)gAa>gCa	p.E1412A	CHD2_ENST00000557381.1_Missense_Mutation_p.E1412A	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1412					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			aaagacaaagaaggggacaag	0.383000													4	82					0	0	1	0	0
EDEM1	9695	broad.mit.edu	37	3	5241290	5241290	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:5241290C>T	ENST00000256497.4	+	3	729	c.596C>T	c.(595-597)tCa>tTa	p.S199L	EDEM1_ENST00000445686.1_Missense_Mutation_p.S4L	NM_014674.2	NP_055489.1	Q92611	EDEM1_HUMAN	ER degradation enhancer, mannosidase alpha-like 1	199					ER-associated protein catabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	integral to endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22				Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)		ATGGGAAATTCATCCGAGTTC	0.408000													28	28					0	0	1	0	0
ELP6	54859	broad.mit.edu	37	3	47539889	47539889	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:47539889C>G	ENST00000296149.4	-	6	729	c.559G>C	c.(559-561)Gat>Cat	p.D187H	ELP6_ENST00000446787.1_Missense_Mutation_p.D114H|ELP6_ENST00000439305.1_Missense_Mutation_p.D114H	NM_001031703.2	NP_001026873.2			elongator acetyltransferase complex subunit 6																		TCCTCCGCATCTCCACTGTCG	0.562000													28	25					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105410361	105410361	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr14:105410361C>G	ENST00000333244.5	-	7	11546	c.11427G>C	c.(11425-11427)aaG>aaC	p.K3809N	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3809						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ATGACGGCATCTTGAACTTGG	0.572000													94	204					0	0	1	0	0
MMP25	64386	broad.mit.edu	37	16	3100351	3100351	+	Silent	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr16:3100351C>G	ENST00000336577.4	+	4	702	c.465C>G	c.(463-465)ctC>ctG	p.L155L	MMP25_ENST00000570755.1_3'UTR	NM_022468.4	NP_071913.1	Q9NPA2	MMP25_HUMAN	matrix metallopeptidase 25	155					inflammatory response|proteolysis	anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	14						AGTCAGGCCTCACATTTCATG	0.637000													15	35					0	0	1	0	0
KCNK7	10089	broad.mit.edu	37	11	65360568	65360568	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr11:65360568C>T	ENST00000340313.4	-	3	1055	c.832G>A	c.(832-834)Gag>Aag	p.E278K	KCNK7_ENST00000342202.4_3'UTR|KCNK7_ENST00000394217.2_3'UTR|KCNK7_ENST00000394216.2_3'UTR	NM_033347.1	NP_203133.1	Q9Y2U2	KCNK7_HUMAN	potassium channel, subfamily K, member 7	278						integral to membrane	potassium channel activity|voltage-gated ion channel activity			endometrium(1)|liver(1)|lung(1)	3						CCTTGGTCCTCAGCAGTCACA	0.627000													4	16					0	0	1	0	0
KANSL1	284058	broad.mit.edu	37	17	44159875	44159875	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:44159875C>G	ENST00000262419.6	-	4	1935	c.1465G>C	c.(1465-1467)Gag>Cag	p.E489Q	KANSL1_ENST00000572904.1_Missense_Mutation_p.E489Q|KANSL1_ENST00000432791.1_Missense_Mutation_p.E489Q|KANSL1_ENST00000393476.3_5'UTR|KANSL1_ENST00000574590.1_Missense_Mutation_p.E489Q|KANSL1_ENST00000575318.1_Missense_Mutation_p.E489Q	NM_001193466.1	NP_001180395	Q7Z3B3	K1267_HUMAN	KAT8 regulatory NSL complex subunit 1	489						MLL1 complex	protein binding										GTTGTATGCTCTGGGGGAGGT	0.398000													28	27					0	0	1	0	0
C1orf168	199920	broad.mit.edu	37	1	57192183	57192183	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:57192183C>G	ENST00000343433.6	-	16	1947	c.1867G>C	c.(1867-1869)Gaa>Caa	p.E623Q		NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	623										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						TCTGATTCTTCAGCACCGTTT	0.378000													20	67					0	0	1	0	0
RANBP3	8498	broad.mit.edu	37	19	5927994	5927994	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:5927994C>G	ENST00000340578.6	-	9	855	c.798G>C	c.(796-798)ttG>ttC	p.L266F	RANBP3_ENST00000591092.1_Missense_Mutation_p.L193F|RANBP3_ENST00000439268.2_Missense_Mutation_p.L261F|RANBP3_ENST00000034275.8_Missense_Mutation_p.L198F|RANBP3_ENST00000541471.1_Missense_Mutation_p.L138F	NM_003624.2|NM_007320.2|NM_007322.2	NP_003615.2|NP_015559.2|NP_015561.1	Q9H6Z4	RANB3_HUMAN	RAN binding protein 3	266					intracellular transport|protein transport	cytoplasm|nucleus	Ran GTPase binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	18						CTCTGTCCCTCAAGTTCTGCC	0.463000													74	55					0	0	1	0	0
C8orf76	84933	broad.mit.edu	37	8	124243745	124243745	+	Missense_Mutation	SNP	A	A	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr8:124243745A>C	ENST00000276704.4	-	4	661	c.610T>G	c.(610-612)Ttc>Gtc	p.F204V	ZHX1-C8ORF76_ENST00000357082.4_Missense_Mutation_p.F172V|C8orf76_ENST00000521310.1_5'UTR	NM_032847.2	NP_116236.1	Q96K31	CH076_HUMAN	chromosome 8 open reading frame 76	204							binding			NS(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(4)	17	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			TGTGGAAAGAAGGATTTGATA	0.448000													75	97					0	0	1	0	0
RBM33	155435	broad.mit.edu	37	7	155534734	155534734	+	Silent	SNP	G	G	A	rs113181766		TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr7:155534734G>A	ENST00000401878.3	+	13	2469	c.2271G>A	c.(2269-2271)acG>acA	p.T757T		NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	757							nucleotide binding|RNA binding			breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		AGGGAAAGACGGAAGTGAAAG	0.547000													9	41					0	0	1	0	0
PADI6	353238	broad.mit.edu	37	1	17699682	17699682	+	RNA	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:17699682C>A	ENST00000434762.2	+	0	298							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	CCCACGTACGCCACAGTGAAG	0.597000													17	18					3.45872e-05	3.57893e-05	1	1	0
EPN3	55040	broad.mit.edu	37	17	48616645	48616645	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:48616645G>C	ENST00000268933.3	+	5	1439	c.860G>C	c.(859-861)aGa>aCa	p.R287T	EPN3_ENST00000541226.1_Missense_Mutation_p.R204T|EPN3_ENST00000537145.1_Missense_Mutation_p.R315T	NM_017957.2	NP_060427.2	Q9H201	EPN3_HUMAN	epsin 3	287						clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm	lipid binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			AGAGAAGAGAGAAAGGAGGAG	0.582000													10	36					0	0	1	0	0
SDAD1P1	157489	broad.mit.edu	37	8	26238918	26238918	+	RNA	SNP	T	T	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr8:26238918T>C	ENST00000519902.1	-	0	1030																											CCACATTGGATGTGTAGTGAT	0.448000													8	0					0	0	1	0	0
DENND6A	201627	broad.mit.edu	37	3	57631450	57631450	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:57631450G>C	ENST00000311128.5	-	11	1045	c.975C>G	c.(973-975)ttC>ttG	p.F325L	RP11-755B10.2_ENST00000470427.1_RNA	NM_152678.2	NP_689891.1			DENN/MADD domain containing 6A																		AATAAGGTCGGAAATCACTGA	0.343000													10	29					0	0	1	0	0
MOB1B	92597	broad.mit.edu	37	4	71824735	71824735	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr4:71824735C>T	ENST00000309395.2	+	2	360	c.159C>T	c.(157-159)ctC>ctT	p.L53L	MOB1B_ENST00000511449.1_3'UTR|MOB1B_ENST00000396051.2_Silent_p.L58L	NM_001244766.1|NM_173468.3	NP_001231695.1|NP_775739.1	Q7L9L4	MOL1A_HUMAN	MOB kinase activator 1B	53					hippo signaling cascade|protein autophosphorylation	cytoplasm|nucleus	kinase activator activity|kinase binding|metal ion binding										GGGAAGATCTCAATGAATGGG	0.468000													29	22					0	0	1	0	0
NKTR	4820	broad.mit.edu	37	3	42687461	42687461	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:42687461C>T	ENST00000232978.8	+	17	4571	c.4383C>T	c.(4381-4383)taC>taT	p.Y1461Y	RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	1461					protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		GCAGCAGATACAGTTGAAAAC	0.373000													5	17					0	0	1	0	0
PIK3C2B	5287	broad.mit.edu	37	1	204438084	204438084	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:204438084G>A	ENST00000367187.3	-	3	1403	c.847C>T	c.(847-849)Cag>Tag	p.Q283*	PIK3C2B_ENST00000424712.2_Nonsense_Mutation_p.Q283*	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	283	Interaction with GRB2.				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GGGGGCACCTGAGGGGGCATA	0.642000													23	79					0	0	1	0	0
KDM5A	5927	broad.mit.edu	37	12	442723	442723	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:442723G>C	ENST00000399788.2	-	12	1945	c.1583C>G	c.(1582-1584)tCc>tGc	p.S528C	KDM5A_ENST00000382815.4_Missense_Mutation_p.S528C	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	528	JmjC.				chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						ATCAGGCTGGGATTCAAATAA	0.507000			T	NUP98	AML								22	45					0	0	1	0	0
TUBGCP4	27229	broad.mit.edu	37	15	43675567	43675567	+	Silent	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr15:43675567C>G	ENST00000564079.1	+	7	828	c.588C>G	c.(586-588)ctC>ctG	p.L196L	TUBGCP4_ENST00000399460.3_Silent_p.L60L|TUBGCP4_ENST00000260383.7_Silent_p.L196L	NM_014444.2	NP_055259.2	Q9UGJ1	GCP4_HUMAN	tubulin, gamma complex associated protein 4	196					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	structural constituent of cytoskeleton			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		ATGGACTCCTCTTGGACCAGC	0.517000													21	34					0	0	1	0	0
COX7A1	1346	broad.mit.edu	37	19	36642380	36642380	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:36642380C>T	ENST00000292907.3	-	3	632	c.171G>A	c.(169-171)atG>atA	p.M57I	COX7A1_ENST00000437291.2_Start_Codon_SNP_p.M1I	NM_001864.2	NP_001855.1	P24310	CX7A1_HUMAN	cytochrome c oxidase subunit VIIa polypeptide 1 (muscle)	57					generation of precursor metabolites and energy	integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity|electron carrier activity			endometrium(2)|large_intestine(1)	3	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GACACAGCGTCATTGTCACTC	0.617000													9	77					0	0	1	0	0
CYP4F8	11283	broad.mit.edu	37	19	15728816	15728816	+	RNA	SNP	T	T	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:15728816T>G	ENST00000441682.2	+	0	268							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						TGCAGGTCACTCCCACAGAGG	0.557000													11	47					0	0	1	0	0
UBA6	55236	broad.mit.edu	37	4	68530981	68530981	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr4:68530981C>T	ENST00000322244.5	-	10	882	c.823G>A	c.(823-825)Gac>Aac	p.D275N	UBA6_ENST00000420827.2_Missense_Mutation_p.D275N	NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6						protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						TCTGTGGTGTCACCAATACTA	0.299000													14	44					0	0	1	0	0
WSB2	55884	broad.mit.edu	37	12	118476129	118476129	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:118476129G>C	ENST00000315436.3	-	5	765	c.624C>G	c.(622-624)gaC>gaG	p.D208E	WSB2_ENST00000542304.1_Intron|WSB2_ENST00000544233.1_5'UTR|WSB2_ENST00000536738.1_Intron|WSB2_ENST00000535496.1_Missense_Mutation_p.D210E|WSB2_ENST00000441406.2_Missense_Mutation_p.D225E	NM_001278557.1|NM_018639.3	NP_001265486.1|NP_061109.1	Q9NYS7	WSB2_HUMAN	WD repeat and SOCS box containing 2	208					intracellular signal transduction					breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCATGCTGCAGTCTGGGGAGA	0.512000													14	25					0	0	1	0	0
IQUB	154865	broad.mit.edu	37	7	123152297	123152297	+	Nonsense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr7:123152297G>C	ENST00000466202.1	-	2	674	c.98C>G	c.(97-99)tCa>tGa	p.S33*	IQUB_ENST00000434450.1_Nonsense_Mutation_p.S33*|IQUB_ENST00000324698.6_Nonsense_Mutation_p.S33*|IQUB_ENST00000488987.1_Intron	NM_001282855.1	NP_001269784.1	Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	33										breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						AGGCTCTTCTGAGGGAACTGG	0.398000													20	133					0	0	1	0	0
NEDD1	121441	broad.mit.edu	37	12	97331111	97331111	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:97331111C>G	ENST00000266742.4	+	9	1396	c.1057C>G	c.(1057-1059)Cta>Gta	p.L353V	NEDD1_ENST00000557644.1_Missense_Mutation_p.L360V|NEDD1_ENST00000429527.2_Missense_Mutation_p.L353V|NEDD1_ENST00000457368.2_Missense_Mutation_p.L264V|NEDD1_ENST00000411739.2_Missense_Mutation_p.L264V	NM_152905.3	NP_690869.1	Q8NHV4	NEDD1_HUMAN	neural precursor cell expressed, developmentally down-regulated 1	353					cell division|G2/M transition of mitotic cell cycle|mitosis	cytosol				breast(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)	22						TGCCACAGTTCTACCACAACC	0.428000													20	114					0	0	1	0	0
PRSS3	5646	broad.mit.edu	37	9	33797839	33797839	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr9:33797839G>A	ENST00000361005.5	+	3	384	c.384G>A	c.(382-384)gtG>gtA	p.V128V	PRSS3_ENST00000429677.3_Silent_p.V64V|PRSS3_ENST00000379405.3_Silent_p.V71V|PRSS3_ENST00000342836.4_Silent_p.V85V|RP11-133O22.6_ENST00000454429.2_RNA	NM_007343.3	NP_031369	P35030	TRY3_HUMAN	protease, serine, 3	128	Peptidase S1.				digestion|endothelial cell migration|zymogen activation	extracellular space	calcium ion binding|protein binding|serine-type endopeptidase activity|serine-type peptidase activity			large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	13			LUSC - Lung squamous cell carcinoma(29;0.0176)			GCATCCAGGTGAGACTGGGAG	0.587000													4	48					0	0	1	0	0
SLC25A19	60386	broad.mit.edu	37	17	73282713	73282713	+	Splice_Site	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:73282713C>T	ENST00000402418.3	-	1	1042		c.e1+1		SLC25A19_ENST00000375261.4_Splice_Site|SLC25A19_ENST00000320362.3_Splice_Site|SLC25A19_ENST00000416858.2_Splice_Site|SLC25A19_ENST00000442286.2_Splice_Site|SLC25A19_ENST00000580994.1_Splice_Site			Q9HC21	TPC_HUMAN	solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19							integral to membrane|mitochondrial inner membrane	binding|deoxynucleotide transmembrane transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9	all_cancers(13;5.98e-08)|all_epithelial(9;1.16e-08)|Breast(9;3.1e-08)		all cancers(21;6.82e-07)|Epithelial(20;6.86e-06)			GGGAAGAGTACCTGGAAACGG	0.483000													13	43					0	0	1	0	0
ZNF544	27300	broad.mit.edu	37	19	58772414	58772414	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:58772414G>C	ENST00000269829.4	+	7	916	c.442G>C	c.(442-444)Gag>Cag	p.E148Q	ZNF544_ENST00000596652.1_Missense_Mutation_p.E148Q|ZNF544_ENST00000415203.2_Missense_Mutation_p.E120Q|CTD-3138B18.5_ENST00000597230.1_RNA|ZNF544_ENST00000599227.1_3'UTR|ZNF544_ENST00000596825.1_3'UTR|ZNF544_ENST00000596929.1_Intron|CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000600044.1_Missense_Mutation_p.E120Q|ZNF544_ENST00000599953.1_Missense_Mutation_p.E6Q|ZNF544_ENST00000595981.1_Intron|ZNF544_ENST00000600220.1_Missense_Mutation_p.E120Q	NM_014480.2	NP_055295.2	Q6NX49	ZN544_HUMAN	zinc finger protein 544	148					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		ACTCACCTCAGAGAGACTGTT	0.458000													28	39					0	0	1	0	0
AREL1	9870	broad.mit.edu	37	14	75130693	75130693	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr14:75130693G>A	ENST00000356357.4	-	19	2793	c.2278C>T	c.(2278-2280)Cag>Tag	p.Q760*	AREL1_ENST00000557401.1_5'UTR	NM_001039479.1	NP_001034568.1			apoptosis resistant E3 ubiquitin protein ligase 1																		GGTGGTAGCTGAGAGGAGCCT	0.562000													18	44					0	0	1	0	0
EFCAB6	64800	broad.mit.edu	37	22	43985982	43985982	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr22:43985982C>T	ENST00000262726.7	-	24	3257	c.3004G>A	c.(3004-3006)Gaa>Aaa	p.E1002K	EFCAB6_ENST00000396231.2_Missense_Mutation_p.E850K	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	1002					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				AGCTCCCCTTCGGTAAGAGAA	0.408000													31	43					0	0	1	0	0
AMPD2	271	broad.mit.edu	37	1	110163738	110163738	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:110163738G>A	ENST00000256578.3	+	1	463	c.103G>A	c.(103-105)Gag>Aag	p.E35K	AMPD2_ENST00000358729.4_Silent_p.Q3Q|AMPD2_ENST00000526301.1_Intron|AMPD2_ENST00000528667.1_Missense_Mutation_p.E35K|AMPD2_ENST00000342115.4_Intron	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2	35					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		GGATGTGGCAGAGCCAGGCCC	0.687000													4	4					0	0	1	0	0
TBX4	9496	broad.mit.edu	37	17	59560332	59560332	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:59560332C>T	ENST00000393853.4	+	9	1259	c.1096C>T	c.(1096-1098)Cac>Tac	p.H366Y	TBX4_ENST00000589449.1_3'UTR|TBX4_ENST00000240335.1_Missense_Mutation_p.H365Y			P57082	TBX4_HUMAN	T-box 4	365					leg morphogenesis|skeletal system morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						GGGGGAGGATCACTATTTCCG	0.552000													9	26					0	0	1	0	0
H1FOO	132243	broad.mit.edu	37	3	129269986	129269986	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:129269986G>C	ENST00000324382.2	+	5	849	c.844G>C	c.(844-846)Gtg>Ctg	p.V282L	H1FOO_ENST00000503977.1_Missense_Mutation_p.V143L	NM_153833.1	NP_722575.1	Q8IZA3	H1FOO_HUMAN	H1 histone family, member O, oocyte-specific	282					meiosis|nucleosome assembly	cytoplasm|nucleosome	DNA binding			endometrium(1)|lung(4)|skin(1)	6						CAAAAAGAAGGTGGTGGCCAA	0.567000													15	53					0	0	1	0	0
SLC24A1	9187	broad.mit.edu	37	15	65917858	65917858	+	Silent	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr15:65917858C>A	ENST00000261892.6	+	2	1727	c.1440C>A	c.(1438-1440)gcC>gcA	p.A480A	SLC24A1_ENST00000399033.4_Silent_p.A480A|SLC24A1_ENST00000544319.2_Silent_p.A480A|SLC24A1_ENST00000339868.6_Silent_p.A480A|SLC24A1_ENST00000546330.1_Silent_p.A480A|SLC24A1_ENST00000537259.1_Silent_p.A480A	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 1	480					response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity			breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						TCGTTCCAGCCCTGGGTGTCA	0.582000													10	94					1.58986e-06	1.66329e-06	1	1	0
DRD2	1813	broad.mit.edu	37	11	113286260	113286260	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr11:113286260G>A	ENST00000362072.3	-	5	950	c.606C>T	c.(604-606)ttC>ttT	p.F202F	DRD2_ENST00000544518.1_Silent_p.F201F|DRD2_ENST00000538967.1_Silent_p.F202F|DRD2_ENST00000346454.3_Silent_p.F202F|DRD2_ENST00000542968.1_Silent_p.F202F|DRD2_ENST00000355319.2_Silent_p.F202F|DRD2_ENST00000535984.1_5'UTR	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	202					activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	GGGTGACAATGAAGGGCACGT	0.597000													27	43					0	0	1	0	0
EFCAB5	374786	broad.mit.edu	37	17	28380875	28380875	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:28380875G>T	ENST00000394835.3	+	10	2095	c.1903G>T	c.(1903-1905)Gaa>Taa	p.E635*	EFCAB5_ENST00000320856.5_Nonsense_Mutation_p.E635*|EFCAB5_ENST00000536908.2_Nonsense_Mutation_p.E579*|EFCAB5_ENST00000541045.1_Nonsense_Mutation_p.E292*|EFCAB5_ENST00000394832.2_Nonsense_Mutation_p.E635*|EFCAB5_ENST00000378738.3_Nonsense_Mutation_p.E635*	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	635							calcium ion binding			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						GTCAGCTGCAGAACAGGGATC	0.443000													23	101					8.04996e-18	8.94249e-18	1	1	0
RIPK4	54101	broad.mit.edu	37	21	43187192	43187192	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr21:43187192C>G	ENST00000352483.2	-	1	74	c.10G>C	c.(10-12)Gac>Cac	p.D4H	RIPK4_ENST00000332512.3_Missense_Mutation_p.D4H			Q96T11	Q96T11_HUMAN	receptor-interacting serine-threonine kinase 4	4						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GTCCCGCCGTCGCCCTCCATC	0.736000													3	6					0	0	1	0	0
NXF1	10482	broad.mit.edu	37	11	62561884	62561884	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr11:62561884C>G	ENST00000532297.1	-	20	2235	c.1606G>C	c.(1606-1608)Gtg>Ctg	p.V536L	NXF1_ENST00000294172.2_Missense_Mutation_p.V536L|NXF1_ENST00000531709.2_3'UTR|NXF1_ENST00000533048.1_5'UTR			Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1	536	NTF2.				gene expression|interspecies interaction between organisms	cytosol|nuclear speck	nucleotide binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GCATTCCGCACAAATAGCTCA	0.493000													8	43					0	0	1	0	0
ERCC1	2067	broad.mit.edu	37	19	45926592	45926592	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:45926592G>A	ENST00000300853.3	-	2	632	c.41C>T	c.(40-42)tCa>tTa	p.S14L	ERCC1_ENST00000589165.1_Missense_Mutation_p.S14L|ERCC1_ENST00000423698.2_Missense_Mutation_p.S14L|ERCC1_ENST00000013807.5_Missense_Mutation_p.S14L|ERCC1_ENST00000591636.1_Missense_Mutation_p.S14L|ERCC1_ENST00000340192.7_Missense_Mutation_p.S14L	NM_001983.3	NP_001974.1	P07992	ERCC1_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)	14					mitotic recombination|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|response to oxidative stress|transcription-coupled nucleotide-excision repair	cytoplasm|nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair complex	damaged DNA binding|endonuclease activity|protein C-terminus binding|protein domain specific binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|skin(1)	15		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0247)		TGGCGGCCCTGAGGGCTGGGG	0.622000								Nucleotide excision repair (NER)					5	19					0	0	1	0	0
POP5	51367	broad.mit.edu	37	12	121018922	121018922	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:121018922G>A	ENST00000341039.2	-	2	175	c.159C>T	c.(157-159)ttC>ttT	p.F53F	POP5_ENST00000357500.4_Silent_p.F53F|POP5_ENST00000542776.1_5'UTR	NM_198202.1	NP_937845.1	Q969H6	POP5_HUMAN	processing of precursor 5, ribonuclease P/MRP subunit (S. cerevisiae)	53					tRNA processing		protein binding|ribonuclease P activity			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7	all_neural(191;0.077)|Medulloblastoma(191;0.0922)					TTGCACCCGCGAAGCCGATGG	0.677000													11	61					0	0	1	0	0
ROR2	4920	broad.mit.edu	37	9	94487117	94487117	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr9:94487117G>A	ENST00000375708.3	-	9	1857	c.1659C>T	c.(1657-1659)ttC>ttT	p.F553F	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Silent_p.F413F	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	553	Protein kinase.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						AACAGTAGCTGAAGATCATGC	0.637000													31	4					0	0	1	0	0
CHD7	55636	broad.mit.edu	37	8	61654316	61654316	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr8:61654316C>A	ENST00000423902.2	+	2	804	c.325C>A	c.(325-327)Ccc>Acc	p.P109T	CHD7_ENST00000525508.1_Missense_Mutation_p.P109T|CHD7_ENST00000524602.1_Missense_Mutation_p.P109T	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	109					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			TCACACCCCTCCCGTTCCTCA	0.567000													16	20					2.32078e-09	2.47519e-09	1	1	0
TPTE	7179	broad.mit.edu	37	21	10942732	10942732	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr21:10942732G>C	ENST00000298232.7	-	12	1022	c.655C>G	c.(655-657)Cta>Gta	p.L219V	TPTE_ENST00000342420.5_Missense_Mutation_p.L199V|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.L237V	NM_199259.2	NP_954868	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	237					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GTGAGGTCTAGGTCAAATCCA	0.323000													41	289					0	0	1	0	0
ATP1A2	477	broad.mit.edu	37	1	160098576	160098576	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:160098576G>A	ENST00000361216.3	+	9	1241	c.1152G>A	c.(1150-1152)atG>atA	p.M384I	ATP1A2_ENST00000392233.3_Missense_Mutation_p.M384I	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	384					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			AGAACCGCATGACCGTCGCCC	0.592000													28	73					0	0	1	0	0
PSKH2	85481	broad.mit.edu	37	8	87076268	87076268	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr8:87076268G>A	ENST00000276616.2	-	2	852	c.778C>T	c.(778-780)Ctg>Ttg	p.L260L		NM_033126.1	NP_149117.1	Q96QS6	KPSH2_HUMAN	protein serine kinase H2	260	Protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47			STAD - Stomach adenocarcinoma(118;0.129)			TCAAAAGGCAGGAATCCGCTA	0.403000													37	41					0	0	1	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76556045	76556045	+	Silent	SNP	A	A	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr16:76556045A>G	ENST00000307431.8	+	18	3028	c.2643A>G	c.(2641-2643)gaA>gaG	p.E881E	CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000476707.1_Silent_p.E885E|CNTNAP4_ENST00000478060.1_Silent_p.E809E|CNTNAP4_ENST00000377504.4_Silent_p.E833E	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	882	Laminin G-like 3.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TGAGGGTTGAAAGGAACATGA	0.522000													48	139					0	0	1	0	0
DNM2	1785	broad.mit.edu	37	19	10930726	10930726	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:10930726C>T	ENST00000314646.5	+	16	1906	c.1742C>T	c.(1741-1743)tCc>tTc	p.S581F	DNM2_ENST00000585892.1_Missense_Mutation_p.S581F|DNM2_ENST00000359692.6_Missense_Mutation_p.S577F|DNM2_ENST00000408974.4_Missense_Mutation_p.S577F|DNM2_ENST00000389253.4_Missense_Mutation_p.S581F|DNM2_ENST00000355667.6_Missense_Mutation_p.S581F			P50570	DYN2_HUMAN	dynamin 2	581	PH.				G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			GGCTTCATGTCCAACAAGCAC	0.562000			"""F, N, Splice, Mis, O"""		ETP ALL								32	103					0	0	1	0	0
NALCN	259232	broad.mit.edu	37	13	102051408	102051408	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr13:102051408G>A	ENST00000251127.6	-	2	151	c.70C>T	c.(70-72)Ctg>Ttg	p.L24L	NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376196.3_Silent_p.L24L|NALCN_ENST00000376200.5_Silent_p.L24L	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	24						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TTATCCGACAGAGACTCATCA	0.443000													24	44					0	0	1	0	0
DNAJC5B	85479	broad.mit.edu	37	8	66963882	66963882	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr8:66963882G>C	ENST00000276570.5	+	3	387	c.100G>C	c.(100-102)Gaa>Caa	p.E34Q	DNAJC5B_ENST00000519330.1_3'UTR	NM_033105.4	NP_149096.2	Q9UF47	DNJ5B_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5 beta	34	J.				protein folding	membrane	heat shock protein binding|unfolded protein binding			endometrium(3)|large_intestine(6)|liver(1)|lung(6)|prostate(1)|skin(3)	20		Lung NSC(129;0.114)|all_lung(136;0.188)	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)			ATCAAATGAAGAAATTAAGAA	0.393000													13	99					0	0	1	0	0
MYO1D	4642	broad.mit.edu	37	17	30986208	30986208	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:30986208C>A	ENST00000318217.5	-	17	2574	c.2270G>T	c.(2269-2271)gGg>gTg	p.G757V	MYO1D_ENST00000394649.4_Missense_Mutation_p.G669V|MYO1D_ENST00000579584.1_Missense_Mutation_p.G757V|RP11-220C2.1_ENST00000582272.1_RNA	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	757						myosin complex	actin binding|ATP binding|calmodulin binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			CACGTGCTTCCCGTAGTCTCG	0.537000											OREG0024311	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	93					1.85244e-09	1.97771e-09	1	1	0
GRIA4	2893	broad.mit.edu	37	11	105775959	105775959	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr11:105775959G>C	ENST00000393127.2	+	9	1536	c.1090G>C	c.(1090-1092)Gac>Cac	p.D364H	GRIA4_ENST00000393125.2_Missense_Mutation_p.D364H|GRIA4_ENST00000282499.5_Missense_Mutation_p.D364H|GRIA4_ENST00000525187.1_Missense_Mutation_p.D364H|GRIA4_ENST00000428631.2_Missense_Mutation_p.D364H|GRIA4_ENST00000530497.1_Missense_Mutation_p.D364H	NM_001077243.2	NP_001070711	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	364					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	TGTTCAGTTTGACCACTATGG	0.393000													20	89					0	0	1	0	0
KRT84	3890	broad.mit.edu	37	12	52776813	52776813	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:52776813C>G	ENST00000257951.3	-	3	858	c.792G>C	c.(790-792)gaG>gaC	p.E264D	RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	264	Coil 1B.|Rod.					keratin filament	structural constituent of epidermis			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CAAACTCATTCTCAGCATTGG	0.502000													18	59					0	0	1	0	0
CNIH3	149111	broad.mit.edu	37	1	224804936	224804936	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:224804936C>T	ENST00000272133.3	+	1	942	c.60C>T	c.(58-60)ctC>ctT	p.L20L		NM_152495.1	NP_689708.1	Q8TBE1	CNIH3_HUMAN	cornichon family AMPA receptor auxiliary protein 3	20					intracellular signal transduction|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic shaft|postsynaptic membrane				large_intestine(5)|lung(4)	9	Breast(184;0.218)			GBM - Glioblastoma multiforme(131;0.073)		GCGCTGCGCTCATCTTCTTCG	0.557000													37	178					0	0	1	0	0
ZNF280D	54816	broad.mit.edu	37	15	56981644	56981644	+	Nonsense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr15:56981644G>C	ENST00000559237.1	-	7	1168	c.485C>G	c.(484-486)tCa>tGa	p.S162*	ZNF280D_ENST00000559000.1_Nonsense_Mutation_p.S162*|ZNF280D_ENST00000267807.7_Nonsense_Mutation_p.S175*|ZNF280D_ENST00000396245.1_De_novo_Start_OutOfFrame	NM_001002843.1	NP_001002843.1	Q6N043	Z280D_HUMAN	zinc finger protein 280D	175					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		AGGACGTTTTGATAAAAATGA	0.284000													10	15					0	0	1	0	0
NMRK1	54981	broad.mit.edu	37	9	77684824	77684824	+	Missense_Mutation	SNP	G	G	C	rs146012983	byFrequency	TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr9:77684824G>C	ENST00000376811.1	-	6	778	c.316C>G	c.(316-318)Ctt>Gtt	p.L106V	NMRK1_ENST00000361092.4_Missense_Mutation_p.L102V|NMRK1_ENST00000376808.4_Missense_Mutation_p.L102V			Q9NWW6	NRK1_HUMAN	nicotinamide riboside kinase 1	102					pyridine nucleotide biosynthetic process		ATP binding|metal ion binding|ribosylnicotinamide kinase activity										TAATTAAAAAGAAGAAAACCT	0.408000													3	42					0	0	1	0	0
FANCM	57697	broad.mit.edu	37	14	45668041	45668041	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr14:45668041G>A	ENST00000267430.5	+	22	5996	c.5911G>A	c.(5911-5913)Gag>Aag	p.E1971K	FANCM_ENST00000542564.2_Missense_Mutation_p.E1945K	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1971	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			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						TAATAAAAGTGAGGCACTCCA	0.348000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				31	5					0	0	1	0	0
EGFLAM	133584	broad.mit.edu	37	5	38407999	38407999	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr5:38407999G>C	ENST00000322350.5	+	9	1586	c.1240G>C	c.(1240-1242)Gaa>Caa	p.E414Q	EGFLAM_ENST00000397202.2_Intron|EGFLAM_ENST00000354891.3_Missense_Mutation_p.E414Q|EGFLAM_ENST00000336740.6_Missense_Mutation_p.E180Q	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	414	Laminin G-like 1.					cell junction|proteinaceous extracellular matrix|synapse		p.E414K(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					AATTACTCTTGAATTTAGGGT	0.413000													13	61					0	0	1	0	0
FAM195A	84331	broad.mit.edu	37	16	697470	697470	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr16:697470C>T	ENST00000307650.4	+	3	415	c.236C>T	c.(235-237)aCg>aTg	p.T79M		NM_138418.2	NP_612427.2	Q9BUT9	F195A_HUMAN	family with sequence similarity 195, member A	79										haematopoietic_and_lymphoid_tissue(1)|kidney(1)	2						GCCCCCTCCACGTCCCCATCC	0.647000													20	14					0	0	1	0	0
PXK	54899	broad.mit.edu	37	3	58395832	58395832	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:58395832G>C	ENST00000463280.1	+	14	1403	c.1312G>C	c.(1312-1314)Gct>Cct	p.A438P	PXK_ENST00000479241.1_Missense_Mutation_p.A454P|PXK_ENST00000536660.1_Missense_Mutation_p.A334P|PXK_ENST00000383715.4_Missense_Mutation_p.A454P|PXK_ENST00000302779.5_Missense_Mutation_p.A454P|PXK_ENST00000383716.3_Missense_Mutation_p.A438P|PXK_ENST00000484288.1_Missense_Mutation_p.A471P|PXK_ENST00000356151.2_Missense_Mutation_p.A471P			Q7Z7A4	PXK_HUMAN	PX domain containing serine/threonine kinase	471	Protein kinase.				cell communication|inflammatory response|negative regulation of ATPase activity|negative regulation of ion transport|regulation of synaptic transmission	centrosome|cytoplasm|nucleus|plasma membrane	actin binding|ATP binding|phosphatidylinositol binding|protein C-terminus binding|protein kinase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)		AAAACGATCTGCTCTTGAAAA	0.408000													11	15					0	0	1	0	0
CCNK	8812	broad.mit.edu	37	14	99959910	99959910	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr14:99959910C>T	ENST00000389879.5	+	3	380	c.257C>T	c.(256-258)tCc>tTc	p.S86F	CCNK_ENST00000557165.1_3'UTR|CCNK_ENST00000555049.1_Missense_Mutation_p.S86F	NM_001099402.1	NP_001092872.1	O75909	CCNK_HUMAN	cyclin K	86					cell division|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein kinase binding			NS(1)|endometrium(2)|lung(3)	6		all_cancers(154;0.224)|all_epithelial(191;0.0643)|Melanoma(154;0.0866)				ATGTTTCATTCCTTCAAGCAA	0.328000													13	14					0	0	1	0	0
NOX4	50507	broad.mit.edu	37	11	89133452	89133452	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr11:89133452G>A	ENST00000535633.1	-	10	1180	c.870C>T	c.(868-870)gtC>gtT	p.V290V	NOX4_ENST00000424319.1_Silent_p.V290V|NOX4_ENST00000527956.1_Silent_p.V290V|NOX4_ENST00000534731.1_Silent_p.V314V|NOX4_ENST00000413594.2_Silent_p.V335V|NOX4_ENST00000527626.1_Silent_p.V148V|NOX4_ENST00000343727.5_Silent_p.V290V|NOX4_ENST00000531342.1_Intron|NOX4_ENST00000532825.1_Silent_p.V290V|NOX4_ENST00000263317.4_Silent_p.V314V|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000375979.3_Intron|NOX4_ENST00000542487.1_Silent_p.V290V|NOX4_ENST00000528341.1_Silent_p.V289V	NM_001143836.1|NM_016931.3	NP_001137308.1|NP_058627.1	Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	314	Ferric oxidoreductase.|Mediates interaction with TLR4.				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				GATGACTCATGACCGAAATGA	0.433000													12	54					0	0	1	0	0
NOTCH2	4853	broad.mit.edu	37	1	120539792	120539792	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:120539792C>T	ENST00000256646.2	-	4	798	c.579G>A	c.(577-579)caG>caA	p.Q193Q	NOTCH2_ENST00000602566.1_Silent_p.Q154Q	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	193	EGF-like 5; calcium-binding (Potential).				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGCCACCATGCTGGCAGTGTC	0.567000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				13	103					0	0	1	0	0
ZNF407	55628	broad.mit.edu	37	18	72345042	72345042	+	Silent	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr18:72345042C>A	ENST00000299687.5	+	1	2067	c.2067C>A	c.(2065-2067)tcC>tcA	p.S689S	ZNF407_ENST00000309902.6_Silent_p.S689S|ZNF407_ENST00000577538.1_Silent_p.S689S|ZNF407_ENST00000582337.1_Silent_p.S689S	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	689					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		CTCTGAAGTCCAGGGTAAGCC	0.398000													11	33					6.40141e-05	6.60423e-05	1	1	0
DYNC1LI2	1783	broad.mit.edu	37	16	66783140	66783140	+	Silent	SNP	T	T	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr16:66783140T>A	ENST00000258198.2	-	3	464	c.258A>T	c.(256-258)ctA>ctT	p.L86L	DYNC1LI2_ENST00000379482.2_Silent_p.L86L|DYNC1LI2_ENST00000443351.2_Silent_p.L86L|DYNC1LI2_ENST00000440564.2_Intron	NM_006141.2	NP_006132.1	O43237	DC1L2_HUMAN	dynein, cytoplasmic 1, light intermediate chain 2	86					transport	centrosome|cytoplasmic dynein complex|microtubule	ATP binding|motor activity			central_nervous_system(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(4)|stomach(1)	15		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212)		AGAGATATTCTAGGCCTCTTC	0.468000													35	62					0	0	1	0	0
DKC1	1736	broad.mit.edu	37	X	153995277	153995277	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chrX:153995277G>C	ENST00000369550.5	+	6	664	c.454G>C	c.(454-456)Gag>Cag	p.E152Q		NM_001142463.1|NM_001363.3	NP_001135935.1|NP_001354.1	O60832	DKC1_HUMAN	dyskeratosis congenita 1, dyskerin	152					cell proliferation|pseudouridine synthesis|rRNA processing|telomere maintenance via telomerase	Cajal body|nucleolus|telomerase holoenzyme complex	protein binding|pseudouridine synthase activity|RNA binding|telomerase activity			breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)	15	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TTCAGGCAAAGAGTATGTGGG	0.463000									Congenital Dyskeratosis				10	49					0	0	1	0	0
KCNK7	10089	broad.mit.edu	37	11	65360906	65360906	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr11:65360906C>G	ENST00000394216.2	-	2	982	c.759G>C	c.(757-759)aaG>aaC	p.K253N	KCNK7_ENST00000340313.4_Intron|KCNK7_ENST00000342202.4_Intron|KCNK7_ENST00000394217.2_Intron	NM_005714.1|NM_033455.1	NP_005705.1|NP_258416.1	Q9Y2U2	KCNK7_HUMAN	potassium channel, subfamily K, member 7	0						integral to membrane	potassium channel activity|voltage-gated ion channel activity			endometrium(1)|liver(1)|lung(1)	3						CCAGGCTCCTCTTCCCCCTTC	0.652000													16	45					0	0	1	0	0
PRRT2	112476	broad.mit.edu	37	16	29824976	29824976	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr16:29824976C>T	ENST00000300797.6	+	2	775	c.601C>T	c.(601-603)Cac>Tac	p.H201Y	PRRT2_ENST00000567659.1_Missense_Mutation_p.H201Y|PRRT2_ENST00000567551.1_Intron|PRRT2_ENST00000358758.7_Missense_Mutation_p.H201Y|AC009133.20_ENST00000569039.1_RNA			Q7Z6L0	PRRT2_HUMAN	proline-rich transmembrane protein 2	201	Pro-rich.				response to biotic stimulus	integral to membrane		p.H201N(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	8						CCCTGAGCCTCACTCACCACC	0.612000													7	11					0	0	1	0	0
CX3CR1	1524	broad.mit.edu	37	3	39307166	39307166	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:39307166C>T	ENST00000541347.1	-	2	1074	c.835G>A	c.(835-837)Gag>Aag	p.E279K	CX3CR1_ENST00000399220.2_Missense_Mutation_p.E279K|CX3CR1_ENST00000542107.1_Missense_Mutation_p.E279K|CX3CR1_ENST00000358309.3_Missense_Mutation_p.E311K	NM_001171171.1	NP_001164642.1	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	279					cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		GCAACCGTCTCAGTCACACTG	0.468000													39	74					0	0	1	0	0
SMARCC2	6601	broad.mit.edu	37	12	56565672	56565672	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:56565672C>T	ENST00000394023.3	-	21	2081	c.1976G>A	c.(1975-1977)gGa>gAa	p.G659E	SMARCC2_ENST00000267064.4_Missense_Mutation_p.G628E|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000550164.1_Missense_Mutation_p.G659E|SMARCC2_ENST00000347471.4_Missense_Mutation_p.G659E	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	628					chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			TGTGCGGCTTCCCACATGCTC	0.527000													22	25					0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117232152	117232152	+	Missense_Mutation	SNP	T	T	C	rs121908779		TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr7:117232152T>C	ENST00000003084.6	+	14	2063	c.1931T>C	c.(1930-1932)cTc>cCc	p.L644P	CFTR_ENST00000454343.1_Missense_Mutation_p.L583P	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	644	ABC transporter 1.				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			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)	AGCTCAAAACTCATGGGATGT	0.373000									Cystic Fibrosis				23	86					0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	11411762	11411762	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr5:11411762C>A	ENST00000304623.8	-	5	514	c.325G>T	c.(325-327)Ggt>Tgt	p.G109C	CTNND2_ENST00000503622.1_Missense_Mutation_p.G18C|CTNND2_ENST00000511377.1_Missense_Mutation_p.G18C|CTNND2_ENST00000359640.2_Missense_Mutation_p.G109C|CTNND2_ENST00000458100.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	109					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TCTTTTTGACCATCTGAAATG	0.338000													42	27					9.62906e-15	1.0595e-14	1	1	0
KCNS1	3787	broad.mit.edu	37	20	43723710	43723710	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr20:43723710G>A	ENST00000306117.1	-	5	1778	c.1382C>T	c.(1381-1383)tCc>tTc	p.S461F	KCNS1_ENST00000537075.1_Missense_Mutation_p.S461F	NM_002251.3	NP_002242.2	Q96KK3	KCNS1_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 1	461						voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity|protein binding			endometrium(1)|lung(3)|ovary(1)|stomach(1)	6		Myeloproliferative disorder(115;0.0122)				GTAGAAGTGGGAGAACTTGTT	0.597000													10	131					0	0	1	0	0
ZNF787	126208	broad.mit.edu	37	19	56600188	56600188	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:56600188C>G	ENST00000270459.3	-	3	471	c.353G>C	c.(352-354)gGc>gCc	p.G118A		NM_001002836.2	NP_001002836	Q6DD87	ZN787_HUMAN	zinc finger protein 787	118					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|lung(2)|pancreas(1)	5		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0559)		GGGCTTCTCGCCCGTGTGGAT	0.682000													10	12					0	0	1	0	0
STK38L	23012	broad.mit.edu	37	12	27455101	27455101	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:27455101G>C	ENST00000389032.3	+	3	335	c.166G>C	c.(166-168)Gaa>Caa	p.E56Q	STK38L_ENST00000539577.1_Missense_Mutation_p.E4Q	NM_015000.3	NP_055815.1	Q9Y2H1	ST38L_HUMAN	serine/threonine kinase 38 like	56					intracellular protein kinase cascade|regulation of cellular component organization	actin cytoskeleton|cytoplasm	actin binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12	Colorectal(261;0.0847)					CATGGAAGAAGAAGGATTAGC	0.299000													47	72					0	0	1	0	0
GLDN	342035	broad.mit.edu	37	15	51634220	51634220	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr15:51634220G>A	ENST00000335449.6	+	1	395	c.339G>A	c.(337-339)atG>atA	p.M113I		NM_181789.2	NP_861454.2	Q6ZMI3	GLDN_HUMAN	gliomedin	113					cell differentiation|nervous system development	collagen|integral to membrane|plasma membrane				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		ACATGCTGATGATGATGACCT	0.711000													14	37					0	0	1	0	0
EHMT1	79813	broad.mit.edu	37	9	140657159	140657159	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr9:140657159G>C	ENST00000460843.1	+	10	1561	c.1534G>C	c.(1534-1536)Gac>Cac	p.D512H	EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000462484.1_Missense_Mutation_p.D512H|EHMT1_ENST00000334856.6_Missense_Mutation_p.D481H	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	512					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		GCTGGAGACAGACGGCCTCCA	0.537000													6	31					0	0	1	0	0
PZP	5858	broad.mit.edu	37	12	9305844	9305844	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:9305844C>T	ENST00000261336.2	-	30	3898	c.3870G>A	c.(3868-3870)caG>caA	p.Q1290Q	PZP_ENST00000381997.2_Silent_p.Q1076Q	NM_002864.2	NP_002855.2			pregnancy-zone protein									p.Q1076Q(1)|p.Q1290Q(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						TAGAAAAGGTCTGTGAATCCT	0.478000													57	77					0	0	1	0	0
SYVN1	84447	broad.mit.edu	37	11	64895935	64895935	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr11:64895935C>T	ENST00000526060.1	-	16	1962	c.1770G>A	c.(1768-1770)gaG>gaA	p.E590E	SYVN1_ENST00000294256.8_Silent_p.E590E|SYVN1_ENST00000377190.3_Silent_p.E591E|SYVN1_ENST00000307289.6_Silent_p.E539E			Q86TM6	SYVN1_HUMAN	synovial apoptosis inhibitor 1, synoviolin	591					ER-associated protein catabolic process|response to stress	endoplasmic reticulum membrane|integral to membrane|nucleus	acid-amino acid ligase activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						CCTCAGGCATCTCCTCTGTGC	0.642000													16	29					0	0	1	0	0
SLC25A42	284439	broad.mit.edu	37	19	19218757	19218757	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:19218757G>A	ENST00000318596.7	+	7	703	c.552G>A	c.(550-552)aaG>aaA	p.K184K	SLC25A42_ENST00000600275.1_3'UTR	NM_178526.4	NP_848621.2	Q86VD7	S2542_HUMAN	solute carrier family 25, member 42	184					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			cervix(1)|large_intestine(2)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497)			AGGGGCTGAAGACTCTCTACC	0.562000													84	66					0	0	1	0	0
SMC5	23137	broad.mit.edu	37	9	72892386	72892386	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr9:72892386C>T	ENST00000361138.5	+	4	599	c.541C>T	c.(541-543)Cag>Tag	p.Q181*		NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN	structural maintenance of chromosomes 5	181					DNA recombination|DNA repair	chromosome|nucleus	ATP binding	p.Q181*(1)		breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						GTTTCTCCCTCAGGTATGAGA	0.338000													16	19					0	0	1	0	0
PLCB3	5331	broad.mit.edu	37	11	64026396	64026396	+	Silent	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr11:64026396C>G	ENST00000540288.1	+	12	1396	c.1293C>G	c.(1291-1293)tcC>tcG	p.S431S	PLCB3_ENST00000325234.5_Silent_p.S364S|PLCB3_ENST00000279230.6_Silent_p.S431S	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	431	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						ACTGCCGCTCCATCTTTGGAG	0.637000													9	21					0	0	1	0	0
NUDT16	131870	broad.mit.edu	37	3	131101103	131101103	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:131101103G>C	ENST00000359850.3	+	2	392	c.253G>C	c.(253-255)Gag>Cag	p.E85Q	NUDT16_ENST00000502852.1_Missense_Mutation_p.E118Q|NUDT16_ENST00000521288.1_Missense_Mutation_p.E118Q|NUDT16_ENST00000537561.1_Missense_Mutation_p.E72Q	NM_152395.2	NP_689608.2	Q96DE0	NUD16_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 16	118	Nudix hydrolase.					nucleolus|nucleoplasm	hydrolase activity|metal ion binding|RNA binding			large_intestine(1)|lung(6)	7						TCTGACGCTCGAGGAGCTGTT	0.657000													13	38					0	0	1	0	0
FZD6	8323	broad.mit.edu	37	8	104337017	104337017	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr8:104337017G>A	ENST00000358755.4	+	4	1000	c.683G>A	c.(682-684)aGa>aAa	p.R228K	FZD6_ENST00000523739.1_Missense_Mutation_p.R196K|FZD6_ENST00000522566.1_Missense_Mutation_p.R228K|FZD6_ENST00000540287.1_Intron	NM_001164616.1|NM_003506.3	NP_001158088.1|NP_003497.2	O60353	FZD6_HUMAN	frizzled family receptor 6	228					angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway	apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			AGAAGATTCAGATACCCAGAG	0.338000													26	57					0	0	1	0	0
NECAP2	55707	broad.mit.edu	37	1	16767292	16767292	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:16767292C>T	ENST00000337132.5	+	1	126	c.36C>T	c.(34-36)gtC>gtT	p.V12V	NECAP2_ENST00000457722.2_Intron|NECAP2_ENST00000443980.2_Silent_p.V12V|NECAP2_ENST00000504551.2_Silent_p.V12V|NECAP2_ENST00000486390.1_3'UTR|NECAP2_ENST00000406746.1_Silent_p.V12V	NM_001145278.1|NM_018090.4	NP_001138750.1|NP_060560.1	Q9NVZ3	NECP2_HUMAN	NECAP endocytosis associated 2	12					endocytosis|protein transport	clathrin vesicle coat|coated pit|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|Kidney(64;0.000181)|KIRC - Kidney renal clear cell carcinoma(64;0.00268)|STAD - Stomach adenocarcinoma(196;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		TGCTCTGTGTCAAGCCTGACG	0.627000											OREG0013136	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	49					0	0	1	0	0
KIAA0226L	80183	broad.mit.edu	37	13	46946326	46946326	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr13:46946326G>A	ENST00000429979.1	-	3	889	c.285C>T	c.(283-285)ctC>ctT	p.L95L	KIAA0226L_ENST00000378784.4_Silent_p.L28L|KIAA0226L_ENST00000534925.1_5'UTR|KIAA0226L_ENST00000378781.3_Silent_p.L95L|KIAA0226L_ENST00000480935.1_5'UTR|KIAA0226L_ENST00000389908.3_Silent_p.L95L|KIAA0226L_ENST00000378787.3_Silent_p.L95L|KIAA0226L_ENST00000409879.2_Intron|KIAA0226L_ENST00000322896.6_Intron|KIAA0226L_ENST00000378797.2_Silent_p.L95L	NM_025113.2	NP_079389.2	Q9H714	CM018_HUMAN	KIAA0226-like	95	Ser-rich.									NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						GGGAGTCCCCGAGGCACGAAG	0.582000													12	35					0	0	1	0	0
C15orf60	283677	broad.mit.edu	37	15	73848666	73848666	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr15:73848666G>C	ENST00000331090.6	+	5	598	c.570G>C	c.(568-570)caG>caC	p.Q190H	C15orf60_ENST00000560581.1_Missense_Mutation_p.Q162H	NM_001042367.1	NP_001035826.1	Q7Z4M0	CO060_HUMAN	chromosome 15 open reading frame 60	190										endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|pancreas(1)|prostate(2)	17						CAGAACAACAGCAAGTGTGTG	0.443000													12	34					0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	69949067	69949067	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr6:69949067C>T	ENST00000370598.1	+	20	3584	c.2763C>T	c.(2761-2763)atC>atT	p.I921I	BAI3_ENST00000238918.8_Silent_p.I127I	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	921					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GCCTGTCTATCATCTCATCCA	0.353000													37	44					0	0	1	0	0
ARHGAP35	2909	broad.mit.edu	37	19	47423403	47423403	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:47423403G>C	ENST00000404338.3	+	1	1471	c.1471G>C	c.(1471-1473)Gaa>Caa	p.E491Q		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	491	FF 4.				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										AGCAAAGGAAGAATTTCAGGA	0.368000													30	54					0	0	1	0	0
CRIP1	1396	broad.mit.edu	37	14	105954549	105954549	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr14:105954549G>A	ENST00000330233.7	+	2	1030	c.87G>A	c.(85-87)ctG>ctA	p.L29L	CRIP1_ENST00000409393.2_Silent_p.L29L|CRIP1_ENST00000392531.3_Silent_p.L29L			P50238	CRIP1_HUMAN	cysteine-rich protein 1 (intestinal)	29	LIM zinc-binding.				cell proliferation	cytoplasm	zinc ion binding						Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)	Epithelial(152;0.235)		GGCCCTGCCTGAAGTGCGAGA	0.682000													18	33					0	0	1	0	0
MICAL1	64780	broad.mit.edu	37	6	109766413	109766413	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr6:109766413C>T	ENST00000368952.4	-	22	3215	c.2925G>A	c.(2923-2925)ttG>ttA	p.L975L	MICAL1_ENST00000358807.3_Silent_p.L956L|MICAL1_ENST00000358577.3_Silent_p.L870L			Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	956					cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding	p.L956F(1)		NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		TCTGGCGCCTCAAGGCCAGCT	0.592000													16	19					0	0	1	0	0
OR5D13	390142	broad.mit.edu	37	11	55540964	55540964	+	Missense_Mutation	SNP	G	G	C	rs117263837	byFrequency	TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr11:55540964G>C	ENST00000361760.1	+	1	51	c.51G>C	c.(49-51)ttG>ttC	p.L17F		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	17					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				TTATTCTCTTGGGTTTTTCAG	0.383000													37	244					0	0	1	0	0
ATMIN	23300	broad.mit.edu	37	16	81078383	81078383	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr16:81078383G>A	ENST00000566488.1	+	3	2775	c.1812G>A	c.(1810-1812)ttG>ttA	p.L604L	ATMIN_ENST00000564241.1_Silent_p.L604L|ATMIN_ENST00000299575.4_Silent_p.L760L|ATMIN_ENST00000539819.1_3'UTR			O43313	ATMIN_HUMAN	ATM interactor	760					response to DNA damage stimulus	nucleus	zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						AAGTTCAGTTGAACAGTACAG	0.448000													46	141					0	0	1	0	0
TANC2	26115	broad.mit.edu	37	17	61488930	61488930	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:61488930G>A	ENST00000424789.2	+	20	3430	c.3426G>A	c.(3424-3426)ttG>ttA	p.L1142L	RP11-269G24.3_ENST00000583552.1_RNA|TANC2_ENST00000389520.4_Silent_p.L1142L|AC015923.1_ENST00000431604.1_RNA	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1142							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						GGGCTTGTTTGAAGGGCCATC	0.527000													23	66					0	0	1	0	0
DHX29	54505	broad.mit.edu	37	5	54581607	54581607	+	Silent	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr5:54581607C>G	ENST00000251636.5	-	9	1297	c.1149G>C	c.(1147-1149)ctG>ctC	p.L383L	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	383							ATP binding|ATP-dependent helicase activity|translation initiation factor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				CCCAATCAATCAGAAATTGTT	0.348000													13	14					0	0	1	0	0
H3F3B	3021	broad.mit.edu	37	17	73775024	73775024	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:73775024C>G	ENST00000254810.4	-	3	281	c.149G>C	c.(148-150)cGa>cCa	p.R50P	H3F3B_ENST00000587560.1_Missense_Mutation_p.R50P|H3F3B_ENST00000591890.1_Missense_Mutation_p.R50P|H3F3B_ENST00000592643.1_Missense_Mutation_p.R50P|H3F3B_ENST00000586607.1_Missense_Mutation_p.R50P|H3F3B_ENST00000593254.1_Intron|H3F3B_ENST00000589599.1_Missense_Mutation_p.R50P	NM_005324.3	NP_005315.1	P84243	H33_HUMAN	H3 histone, family 3B (H3.3B)	50					blood coagulation|nucleosome assembly	nucleoplasm|nucleosome	DNA binding			large_intestine(1)|lung(4)|ovary(2)|skin(1)	8	all_cancers(13;1.5e-07)		all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			ACGAATCTCTCGAAGCGCCAC	0.652000											OREG0024740	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	35					0	0	1	0	0
OXGR1	27199	broad.mit.edu	37	13	97639537	97639537	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr13:97639537G>A	ENST00000298440.1	-	4	720	c.477C>T	c.(475-477)atC>atT	p.I159I	OXGR1_ENST00000543457.1_Silent_p.I159I	NM_080818.3	NP_543008.3	Q96P68	OXGR1_HUMAN	oxoglutarate (alpha-ketoglutarate) receptor 1	159						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			NS(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15	all_neural(89;0.0982)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.186)			CCAGTGAAATGATCCACACCA	0.478000													4	46					0	0	1	0	0
UBR4	23352	broad.mit.edu	37	1	19436596	19436596	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:19436596C>A	ENST00000375267.2	-	81	12102	c.12099G>T	c.(12097-12099)aaG>aaT	p.K4033N	UBR4_ENST00000375217.2_Missense_Mutation_p.K4026N|UBR4_ENST00000375254.3_Missense_Mutation_p.K4033N|UBR4_ENST00000375226.2_Missense_Mutation_p.K4009N			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	4033					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GTACCTTGTTCTTCTTGCTAG	0.542000													31	87					1.61788e-16	1.78963e-16	1	1	0
TEX14	56155	broad.mit.edu	37	17	56693643	56693643	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:56693643C>G	ENST00000389934.3	-	7	777	c.660G>C	c.(658-660)caG>caC	p.Q220H	TEX14_ENST00000240361.8_Missense_Mutation_p.Q226H|TEX14_ENST00000349033.5_Missense_Mutation_p.Q220H	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN	testis expressed 14	226						cytoplasm	ATP binding|protein kinase activity			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)					GATAGGCCATCTGTGTCGCCC	0.478000													10	66					0	0	1	0	0
RNF139	11236	broad.mit.edu	37	8	125487416	125487416	+	Silent	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr8:125487416C>G	ENST00000303545.3	+	1	438	c.66C>G	c.(64-66)ctC>ctG	p.L22L		NM_007218.3	NP_009149.2	Q8WU17	RN139_HUMAN	ring finger protein 139	22					negative regulation of cell proliferation|regulation of protein ubiquitination	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(1)	20	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			GGGCGGCGCTCGAAGTGGCGC	0.677000													8	71					0	0	1	0	0
WDR41	55255	broad.mit.edu	37	5	76736794	76736794	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr5:76736794G>A	ENST00000296679.4	-	9	1101	c.726C>T	c.(724-726)gtC>gtT	p.V242V	WDR41_ENST00000507029.1_Silent_p.V187V|WDR41_ENST00000414719.2_5'UTR	NM_018268.2	NP_060738.2	Q9HAD4	WDR41_HUMAN	WD repeat domain 41	242										NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)	14		all_lung(232;0.000961)|Lung NSC(167;0.0011)|Ovarian(174;0.0105)|Prostate(461;0.059)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-50)|Epithelial(54;2.04e-44)|all cancers(79;6.84e-40)		TCAGCTCTCCGACGTGGGAGC	0.453000													11	27					0	0	1	0	0
GPD2	2820	broad.mit.edu	37	2	157407191	157407191	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:157407191G>A	ENST00000310454.6	+	8	1276	c.904G>A	c.(904-906)Gat>Aat	p.D302N	GPD2_ENST00000438166.2_Missense_Mutation_p.D302N|GPD2_ENST00000409674.1_Missense_Mutation_p.D302N|GPD2_ENST00000409125.4_Missense_Mutation_p.D75N|GPD2_ENST00000540309.1_Missense_Mutation_p.D302N	NM_001083112.2	NP_001076581.2	P43304	GPDM_HUMAN	glycerol-3-phosphate dehydrogenase 2 (mitochondrial)	302					cellular lipid metabolic process	glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane	calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1)	22						CAAAATGGATGATAAAGACGC	0.473000													51	109					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179435376	179435376	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:179435376C>G	ENST00000589042.1	-	326	75707	c.75483G>C	c.(75481-75483)aaG>aaC	p.K25161N	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K16221N|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.K16096N|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K16288N|TTN_ENST00000591111.1_Missense_Mutation_p.K23520N|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K22593N|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23520	Fibronectin type-III 83.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGTCGGTGCTCTTTATTTCTA	0.413000													17	80					0	0	1	0	0
TENM1	10178	broad.mit.edu	37	X	123518337	123518337	+	Silent	SNP	T	T	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chrX:123518337T>A	ENST00000422452.2	-	30	6507	c.6444A>T	c.(6442-6444)ggA>ggT	p.G2148G	TENM1_ENST00000371130.3_Silent_p.G2141G|STAG2_ENST00000469481.1_Intron	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		TGGCATCTACTCCTACCCTTA	0.398000													38	153					0	0	1	0	0
SLC16A14	151473	broad.mit.edu	37	2	230911034	230911034	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:230911034G>C	ENST00000295190.4	-	4	1266	c.808C>G	c.(808-810)Cag>Gag	p.Q270E		NM_152527.4	NP_689740.2	Q7RTX9	MOT14_HUMAN	solute carrier family 16, member 14	270						integral to membrane|plasma membrane	symporter activity			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		TGCCCGGCCTGATCGGGGCAC	0.587000													54	9					0	0	1	0	0
RNF111	54778	broad.mit.edu	37	15	59323779	59323779	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr15:59323779C>G	ENST00000348370.4	+	2	1191	c.758C>G	c.(757-759)tCt>tGt	p.S253C	RNF111_ENST00000557998.1_Missense_Mutation_p.S253C|RNF111_ENST00000561186.1_Missense_Mutation_p.S253C|RNF111_ENST00000559209.1_Missense_Mutation_p.S253C|RNF111_ENST00000434298.1_Missense_Mutation_p.S253C	NM_001270528.1|NM_001270529.1|NM_017610.7	NP_001257457.1|NP_001257458.1|NP_060080.6	Q6ZNA4	RN111_HUMAN	ring finger protein 111	253	Interaction with AXIN1.|Ser-rich.				multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		CTACCTAGTTCTAGTAGTTCC	0.408000													6	118					0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175375427	175375427	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:175375427C>G	ENST00000367674.2	-	3	1132	c.424G>C	c.(424-426)Gag>Cag	p.E142Q	TNR_ENST00000263525.2_Missense_Mutation_p.E142Q			Q92752	TENR_HUMAN	tenascin R						axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.E142K(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TCCAGCATCTCGATCCGGCTC	0.602000													20	76					0	0	1	0	0
FOXN3	1112	broad.mit.edu	37	14	89817116	89817116	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr14:89817116C>G	ENST00000345097.4	-	3	696	c.580G>C	c.(580-582)Gag>Cag	p.E194Q	FOXN3_ENST00000557258.1_Missense_Mutation_p.E194Q|RP11-356K23.1_ENST00000556942.1_RNA|FOXN3_ENST00000555353.1_Missense_Mutation_p.E194Q|RP11-356K23.1_ENST00000555407.1_RNA|FOXN3_ENST00000261302.5_Missense_Mutation_p.E194Q|FOXN3_ENST00000555658.1_5'UTR	NM_001085471.1	NP_001078940.1	O00409	FOXN3_HUMAN	forkhead box N3	194					DNA damage checkpoint|embryo development|G2 phase of mitotic cell cycle|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TGTCTATACTCTGGGTCTATG	0.388000													26	54					0	0	1	0	0
PRPF8	10594	broad.mit.edu	37	17	1564436	1564436	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:1564436G>A	ENST00000572621.1	-	27	4624	c.4359C>T	c.(4357-4359)ttC>ttT	p.F1453F	PRPF8_ENST00000304992.6_Silent_p.F1453F			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1453						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		GTGTCCACCAGAACGGATTCT	0.547000													44	4					0	0	1	0	0
IL17B	27190	broad.mit.edu	37	5	148754083	148754083	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr5:148754083G>A	ENST00000261796.3	-	3	442	c.392C>T	c.(391-393)aCc>aTc	p.T131I	RP11-394O4.3_ENST00000521756.1_RNA|IL17B_ENST00000505432.1_5'UTR	NM_014443.2	NP_055258.1	Q9UHF5	IL17B_HUMAN	interleukin 17B	131					cell-cell signaling|immune response|inflammatory response	extracellular space	cytokine activity|signal transducer activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)|urinary_tract(1)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCCTGCATGGTGAAGGGGTT	0.682000													18	17					0	0	1	0	0
FAM83H	286077	broad.mit.edu	37	8	144810771	144810771	+	Missense_Mutation	SNP	G	G	A	rs137854442		TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr8:144810771G>A	ENST00000388913.3	-	5	985	c.860C>T	c.(859-861)tCg>tTg	p.S287L		NM_198488.3	NP_940890	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	287					biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GGCCGCGGCCGAGGGCACAAG	0.711000													6	12					0	0	1	0	0
FAM177B	400823	broad.mit.edu	37	1	222923383	222923383	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:222923383G>A	ENST00000445590.2	+	6	726	c.460G>A	c.(460-462)Gag>Aag	p.E154K	FAM177B_ENST00000360827.2_Missense_Mutation_p.E154K	NM_207468.2	NP_997351.2	A6PVY3	F177B_HUMAN	family with sequence similarity 177, member B	154										breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	8						GGATGTGACAGAGGCCATTCC	0.522000													14	53					0	0	1	0	0
CLDN16	10686	broad.mit.edu	37	3	190120206	190120206	+	Silent	SNP	T	T	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:190120206T>C	ENST00000264734.2	+	2	653	c.405T>C	c.(403-405)gaT>gaC	p.D135D	CLDN16_ENST00000468220.1_3'UTR|CLDN16_ENST00000456423.1_Intron	NM_006580.3	NP_006571.1	Q9Y5I7	CLD16_HUMAN	claudin 16	135					calcium-independent cell-cell adhesion|cellular metal ion homeostasis|excretion	integral to membrane|tight junction	identical protein binding|magnesium ion transmembrane transporter activity|structural molecule activity			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|skin(1)	19	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)		ATGAGTACGATTCCATACTTG	0.488000													28	89					0	0	1	0	0
EVA1C	59271	broad.mit.edu	37	21	33876247	33876247	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr21:33876247G>C	ENST00000300255.2	+	7	1344	c.871G>C	c.(871-873)Gac>Cac	p.D291H	EVA1C_ENST00000401402.3_Missense_Mutation_p.D243H|EVA1C_ENST00000485488.1_3'UTR|EVA1C_ENST00000382699.3_Missense_Mutation_p.D288H	NM_058187.3	NP_478067.2			eva-1 homolog C (C. elegans)																		TATAAACTTCGACCCAAGCGG	0.443000													37	112					0	0	1	0	0
TADA2A	6871	broad.mit.edu	37	17	35800675	35800675	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:35800675C>T	ENST00000394395.2	+	6	527	c.354C>T	c.(352-354)ttC>ttT	p.F118F	TADA2A_ENST00000591992.1_3'UTR|TADA2A_ENST00000225396.6_Silent_p.F118F|TADA2A_ENST00000586023.1_Silent_p.F118F|TADA2A_ENST00000417170.1_Silent_p.F118F	NM_001166105.1	NP_001159577.1	O75478	TAD2A_HUMAN	transcriptional adaptor 2A	118	SANT.				histone H3 acetylation|transcription from RNA polymerase II promoter	chromosome|PCAF complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|zinc ion binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)|skin(1)	13						TGAAGCATTTCATCAATAACC	0.458000													12	39					0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48703211	48703211	+	Missense_Mutation	SNP	C	C	G	rs139679866		TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr15:48703211C>G	ENST00000316623.5	-	66	9047	c.8592G>C	c.(8590-8592)atG>atC	p.M2864I		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2864					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			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)		CCTGGATTTTCATCTTCAGAT	0.328000													11	34					0	0	1	0	0
RNF148	378925	broad.mit.edu	37	7	122342732	122342732	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr7:122342732G>C	ENST00000434824.1	-	1	289	c.73C>G	c.(73-75)Cta>Gta	p.L25V	CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000334010.7_Intron|RNF148_ENST00000447240.1_Missense_Mutation_p.L25V|CADPS2_ENST00000313070.7_Intron	NM_198085.1	NP_932351.1	Q8N7C7	RN148_HUMAN	ring finger protein 148	25						integral to membrane	zinc ion binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(7)	16						CTAAGTAGTAGAAAGATACTA	0.403000													5	27					0	0	1	0	0
FAF1	11124	broad.mit.edu	37	1	50956338	50956338	+	Splice_Site	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:50956338C>G	ENST00000396153.2	-	17	2027		c.e17-1		FAF1_ENST00000371778.4_Splice_Site|FAF1_ENST00000545823.1_Splice_Site	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN	Fas (TNFRSF6) associated factor 1						apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process	CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm	heat shock protein binding|NF-kappaB binding|protein kinase binding|protein kinase regulator activity			breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		GAGCTTCCCTCTGTTGATAAA	0.378000													34	74					0	0	1	0	0
KDM3A	55818	broad.mit.edu	37	2	86718100	86718100	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:86718100C>G	ENST00000409556.1	+	25	4035	c.3670C>G	c.(3670-3672)Caa>Gaa	p.Q1224E	KDM3A_ENST00000542128.1_Missense_Mutation_p.Q1172E|KDM3A_ENST00000312912.5_Missense_Mutation_p.Q1224E|KDM3A_ENST00000409064.1_Missense_Mutation_p.Q1224E			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	1224	JmjC.				androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						ACGTCTTCATCAAGAGTATGG	0.438000													62	43					0	0	1	0	0
ELMO3	79767	broad.mit.edu	37	16	67236431	67236431	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr16:67236431G>A	ENST00000393997.2	+	14	1609	c.1552G>A	c.(1552-1554)Gac>Aac	p.D518N	ELMO3_ENST00000360833.1_Missense_Mutation_p.D501N|ELMO3_ENST00000477898.1_Missense_Mutation_p.D352N	NM_024712.3	NP_078988.2	Q96BJ8	ELMO3_HUMAN	engulfment and cell motility 3	465					apoptosis|phagocytosis	cytoplasm|cytoskeleton	SH3 domain binding			cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		GGAGGACTTCGACAAGGTGGG	0.622000													35	86					0	0	1	0	0
SLC10A2	6555	broad.mit.edu	37	13	103718286	103718286	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr13:103718286C>T	ENST00000245312.3	-	1	910	c.314G>A	c.(313-315)tGc>tAc	p.C105Y		NM_000452.2	NP_000443	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	105					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					TCCAGGGCAGCATCCTATAAT	0.512000													67	6					0	0	1	0	0
MTFMT	123263	broad.mit.edu	37	15	65295436	65295436	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr15:65295436C>G	ENST00000220058.4	-	9	1147	c.1134G>C	c.(1132-1134)caG>caC	p.Q378H		NM_139242.3	NP_640335.2	Q96DP5	FMT_HUMAN	mitochondrial methionyl-tRNA formyltransferase	378						mitochondrion	methionyl-tRNA formyltransferase activity|methyltransferase activity			endometrium(1)|large_intestine(3)|lung(3)|ovary(3)	10					Tetrahydrofolic acid(DB00116)	CAGTTTTTTTCTGCTTCTTCT	0.348000													14	20					0	0	1	0	0
POLR1A	25885	broad.mit.edu	37	2	86315961	86315961	+	Silent	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:86315961G>T	ENST00000263857.6	-	5	951	c.573C>A	c.(571-573)ctC>ctA	p.L191L	POLR1A_ENST00000409681.1_Silent_p.L191L			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	191					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						AGAGAGCAATGAGCTTGCTCT	0.448000													19	91					2.35188e-11	2.54746e-11	1	1	0
AP1S1	1174	broad.mit.edu	37	7	100802372	100802372	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr7:100802372G>A	ENST00000337619.5	+	4	442	c.324G>A	c.(322-324)gaG>gaA	p.E108E		NM_001283.3	NP_001274.1	P61966	AP1S1_HUMAN	adaptor-related protein complex 1, sigma 1 subunit	108					intracellular protein transport|post-Golgi vesicle-mediated transport|receptor-mediated endocytosis|regulation of defense response to virus by virus|response to virus|viral reproduction	AP-1 adaptor complex|coated pit|cytosol|lysosomal membrane	protein binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)	8	Lung NSC(181;0.168)|all_lung(186;0.215)					TCAACTTTGAGAAGGCCTACT	0.552000													6	45					0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10362679	10362679	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:10362679G>C	ENST00000255381.2	-	15	1586	c.1476C>G	c.(1474-1476)ttC>ttG	p.F492L	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	492	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TGTGGTGGTTGAAAAACTGTT	0.473000													26	64					0	0	1	0	0
TRAPPC10	7109	broad.mit.edu	37	21	45475622	45475622	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr21:45475622C>G	ENST00000291574.4	+	5	701	c.526C>G	c.(526-528)Cag>Gag	p.Q176E	TRAPPC10_ENST00000380221.3_Missense_Mutation_p.Q176E	NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	176					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						TTCTCGAACTCAGGAATCCTG	0.478000													91	101					0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73676289	73676289	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:73676289C>T	ENST00000264448.6	+	8	2743	c.2632C>T	c.(2632-2634)Cat>Tat	p.H878Y	ALMS1_ENST00000377715.1_Missense_Mutation_p.H878Y|ALMS1_ENST00000409009.1_Missense_Mutation_p.H836Y	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	878	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						ACCCAATAGTCATCTAACTGA	0.478000													54	98					0	0	1	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85517896	85517896	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:85517896G>A	ENST00000393217.2	+	17	3667	c.3606G>A	c.(3604-3606)aaG>aaA	p.K1202K		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1202										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		ATTATTTTAAGAAATTGATGA	0.333000													12	54					0	0	1	0	0
ZNF320	162967	broad.mit.edu	37	19	53367341	53367341	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:53367341C>G	ENST00000597909.1	-	6	531	c.295G>C	c.(295-297)Gaa>Caa	p.E99Q				A2RRD8	ZN320_HUMAN	zinc finger protein 320	249					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(134;0.0534)		ATAAAGCGTTCTGTGCAGGGT	0.448000													16	74					0	0	1	0	0
PIK3CD	5293	broad.mit.edu	37	1	9782153	9782153	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:9782153G>C	ENST00000536656.1	+	17	2456	c.2248G>C	c.(2248-2250)Gag>Cag	p.E750Q	PIK3CD_ENST00000377346.4_Missense_Mutation_p.E726Q|PIK3CD_ENST00000543390.1_3'UTR|PIK3CD_ENST00000361110.2_Missense_Mutation_p.E750Q			O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	726					phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)		GGCCTACCTAGAGGCCCTCTC	0.637000											OREG0013082	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	39					0	0	1	0	0
SLC13A2	9058	broad.mit.edu	37	17	26824194	26824194	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:26824194C>T	ENST00000444914.3	+	12	2253	c.1833C>T	c.(1831-1833)ctC>ctT	p.L611L	SLC13A2_ENST00000545060.1_Silent_p.L519L|SLC13A2_ENST00000314669.5_Silent_p.L562L|SLC13A2_ENST00000537681.1_Silent_p.L491L	NM_001145975.1	NP_001139447.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	562						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	GCATCCCCCTCTTCAGCCTGC	0.612000													60	87					0	0	1	0	0
C6orf10	10665	broad.mit.edu	37	6	32290904	32290904	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr6:32290904C>T	ENST00000375015.4	-	20	725	c.525G>A	c.(523-525)atG>atA	p.M175I	C6orf10_ENST00000447241.2_Missense_Mutation_p.M183I|C6orf10_ENST00000375007.4_Missense_Mutation_p.M181I|C6orf10_ENST00000442822.2_Missense_Mutation_p.M160I|C6orf10_ENST00000527965.1_Missense_Mutation_p.M160I|C6orf10_ENST00000533191.1_Missense_Mutation_p.M167I			Q5SRN2	CF010_HUMAN	chromosome 6 open reading frame 10	183						integral to membrane				cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						TTATGGGTGCCATGGGTGGAC	0.393000													17	6					0	0	1	0	0
RRP1	8568	broad.mit.edu	37	21	45222172	45222172	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr21:45222172G>C	ENST00000497547.1	+	12	1144	c.1027G>C	c.(1027-1029)Gag>Cag	p.E343Q	RRP1_ENST00000471909.1_3'UTR	NM_003683.5	NP_003674.1	P56182	RRP1_HUMAN	ribosomal RNA processing 1	343					rRNA processing	nucleolus|preribosome, small subunit precursor				central_nervous_system(1)|kidney(1)|lung(4)|stomach(2)	8				COAD - Colon adenocarcinoma(84;0.00753)|Colorectal(79;0.0157)|STAD - Stomach adenocarcinoma(101;0.171)		CCCTGAAGATGAGATCCCAGA	0.602000													23	27					0	0	1	0	0
ZNF574	64763	broad.mit.edu	37	19	42585402	42585402	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:42585402G>C	ENST00000600245.1	+	2	3299	c.2644G>C	c.(2644-2646)Gag>Cag	p.E882Q	ZNF574_ENST00000359044.4_Missense_Mutation_p.E882Q|ZNF574_ENST00000222339.7_Missense_Mutation_p.E972Q			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	882					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				GGAAGCCATTGAGATCTACCC	0.642000													50	48					0	0	1	0	0
MYOM3	127294	broad.mit.edu	37	1	24421367	24421367	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:24421367C>T	ENST00000330966.7	-	9	1069	c.907G>A	c.(907-909)Gag>Aag	p.E303K	MYOM3_ENST00000329601.7_Missense_Mutation_p.E302K|MYOM3_ENST00000374434.3_Missense_Mutation_p.E302K|MYOM3_ENST00000475306.1_5'UTR			Q5VTT5	MYOM3_HUMAN	myomesin 3	302	Ig-like C2-type 2.									NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		TGGATGCTCTCAGCATCTAAC	0.577000													9	30					0	0	1	0	0
ZNF816	125893	broad.mit.edu	37	19	53456059	53456059	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:53456059C>G	ENST00000357666.4	-	4	435	c.135G>C	c.(133-135)caG>caC	p.Q45H	ZNF816_ENST00000438970.2_Missense_Mutation_p.Q45H|ZNF816_ENST00000535506.1_Missense_Mutation_p.Q45H|ZNF816_ENST00000270457.4_Missense_Mutation_p.Q45H|ZNF321P_ENST00000391777.3_Missense_Mutation_p.Q45H|ZNF816_ENST00000391786.2_Missense_Mutation_p.E40Q|ZNF816_ENST00000434371.2_Missense_Mutation_p.Q45H|ZNF816_ENST00000444460.2_Missense_Mutation_p.Q45H	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816	45	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						ATAAAGCCCTCTGTGCAGGGT	0.458000													85	223					0	0	1	0	0
FANCA	2175	broad.mit.edu	37	16	89838145	89838145	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr16:89838145C>T	ENST00000389301.3	-	23	2122	c.2092G>A	c.(2092-2094)Gag>Aag	p.E698K	FANCA_ENST00000568369.1_Missense_Mutation_p.E698K|FANCA_ENST00000567284.2_5'UTR	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	698					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		TTTGATATCTCAACGCTGCTG	0.517000			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				29	64					0	0	1	0	0
MYO10	4651	broad.mit.edu	37	5	16769282	16769282	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr5:16769282C>G	ENST00000513610.1	-	10	1415	c.961G>C	c.(961-963)Gag>Cag	p.E321Q		NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	321	Myosin head-like.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						CGAACTTCCTCCTTGCTGAAC	0.418000													7	34					0	0	1	0	0
GSTA2	2939	broad.mit.edu	37	6	52615459	52615459	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr6:52615459C>G	ENST00000493422.1	-	7	740	c.585G>C	c.(583-585)aaG>aaC	p.K195N		NM_000846.4	NP_000837.3	P09210	GSTA2_HUMAN	glutathione S-transferase alpha 2	195	GST C-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(77;0.118)				Aminophenazone(DB01424)|Amsacrine(DB00276)|Busulfan(DB01008)|Chlorambucil(DB00291)|Chloroquine(DB00608)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Mechlorethamine(DB00888)|Praziquantel(DB01058)|Vitamin E(DB00163)	GTAGAAACTTCTTCACTGTGG	0.453000													54	38					0	0	1	0	0
PRPF8	10594	broad.mit.edu	37	17	1564634	1564634	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:1564634G>A	ENST00000572621.1	-	26	4534	c.4269C>T	c.(4267-4269)ttC>ttT	p.F1423F	PRPF8_ENST00000304992.6_Silent_p.F1423F			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1423						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		GGTCCTTCTGGAAGAGGGTAT	0.458000													101	11					0	0	1	0	0
ARHGEF12	23365	broad.mit.edu	37	11	120292558	120292558	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr11:120292558C>G	ENST00000397843.2	+	6	511	c.345C>G	c.(343-345)atC>atG	p.I115M	ARHGEF12_ENST00000356641.3_Missense_Mutation_p.I96M|ARHGEF12_ENST00000532993.1_Missense_Mutation_p.I12M	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	115	PDZ.				apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		ATCGAATCATCAAGGTAAGGA	0.333000			T	MLL	AML								12	52					0	0	1	0	0
SPTAN1	6709	broad.mit.edu	37	9	131341958	131341958	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr9:131341958G>A	ENST00000358161.5	+	10	1377	c.1264G>A	c.(1264-1266)Gaa>Aaa	p.E422K	SPTAN1_ENST00000372731.4_Missense_Mutation_p.E422K|SPTAN1_ENST00000372739.3_Missense_Mutation_p.E422K			Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	422					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						ATCTGCAGATGAATCTGGACA	0.428000													34	2					0	0	1	0	0
PTPN9	5780	broad.mit.edu	37	15	75798197	75798197	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr15:75798197C>T	ENST00000306726.2	-	7	1299	c.787G>A	c.(787-789)Gag>Aag	p.E263K		NM_002833.2	NP_002824.1	P43378	PTN9_HUMAN	protein tyrosine phosphatase, non-receptor type 9	263						cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding			central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AGGATGATCTCATCGAAGGGA	0.512000													29	15					0	0	1	0	0
SF3B3	23450	broad.mit.edu	37	16	70603923	70603923	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr16:70603923G>T	ENST00000302516.5	+	24	3490	c.3279G>T	c.(3277-3279)atG>atT	p.M1093I		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	1093					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding			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)				AGGTGATCATGAACTACCATG	0.552000													17	55					1.02788e-11	1.11452e-11	1	1	0
KRT16P6	353194	broad.mit.edu	37	17	16722174	16722174	+	RNA	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:16722174G>T	ENST00000417510.1	-	0	1556																											TGTGAAGACAGAAAAGGGCAG	0.602000													19	21					5.3912e-06	5.60642e-06	1	1	0
RASSF8	11228	broad.mit.edu	37	12	26208293	26208293	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:26208293G>C	ENST00000405154.2	+	2	216	c.17G>C	c.(16-18)tGg>tCg	p.W6S	RASSF8_ENST00000282884.9_Missense_Mutation_p.W6S|RASSF8_ENST00000542865.1_Missense_Mutation_p.W6S|RASSF8_ENST00000381352.3_Missense_Mutation_p.W6S|RASSF8_ENST00000541490.1_Missense_Mutation_p.W6S	NM_001164748.1	NP_001158220.1	Q8NHQ8	RASF8_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 8	6	Ras-associating.				signal transduction					cervix(2)|endometrium(1)|large_intestine(6)|lung(15)|urinary_tract(1)	25	Colorectal(261;0.0847)					CTTAAAGTATGGGTGGATGGA	0.507000													4	79					0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100844696	100844696	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr8:100844696G>C	ENST00000358544.2	+	52	9616	c.9505G>C	c.(9505-9507)Gac>Cac	p.D3169H	VPS13B_ENST00000357162.2_Missense_Mutation_p.D3144H|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3169					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CTTGATGCCTGACATCAGTCA	0.522000													16	30					0	0	1	0	0
KMT2E	55904	broad.mit.edu	37	7	104748167	104748167	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr7:104748167C>T	ENST00000334877.4	+	22	3797	c.3263C>T	c.(3262-3264)aCa>aTa	p.T1088I	KMT2E_ENST00000311117.3_Missense_Mutation_p.T1088I|KMT2E_ENST00000257745.4_Missense_Mutation_p.T1088I|KMT2E_ENST00000334914.7_Missense_Mutation_p.T143I					lysine (K)-specific methyltransferase 2E																		AGGGACCTGACACCCTCGCAT	0.493000													4	42					0	0	1	0	0
TAF1L	138474	broad.mit.edu	37	9	32630951	32630951	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr9:32630951C>G	ENST00000242310.4	-	1	4716	c.4627G>C	c.(4627-4629)Gat>Cat	p.D1543H		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1543	Bromo 2.				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GGCCAAGAATCTGGAACTGCC	0.388000													8	49					0	0	1	0	0
ZNF45	7596	broad.mit.edu	37	19	44418392	44418392	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:44418392C>T	ENST00000269973.5	-	10	2286	c.1196G>A	c.(1195-1197)cGg>cAg	p.R399Q	ZNF45_ENST00000589703.1_Missense_Mutation_p.R399Q|RP11-15A1.2_ENST00000586247.1_RNA	NM_003425.3	NP_003416.1	Q02386	ZNF45_HUMAN	zinc finger protein 45	399					multicellular organismal development	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	17						ATTTGAGGCCCGGCAGAAGCC	0.502000													53	85					0	0	1	0	0
STIL	6491	broad.mit.edu	37	1	47717130	47717130	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:47717130G>A	ENST00000360380.3	-	18	3905	c.3542C>T	c.(3541-3543)tCt>tTt	p.S1181F	STIL_ENST00000371877.3_Missense_Mutation_p.S1182F|STIL_ENST00000396221.2_Missense_Mutation_p.S1164F|STIL_ENST00000337817.5_Missense_Mutation_p.S1181F|STIL_ENST00000243182.6_Missense_Mutation_p.S1181F	NM_001282936.1	NP_001269865.1	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	1181					cell proliferation|multicellular organismal development	centrosome|cytosol				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				TTCACAGTTAGAACAATTAAT	0.373000													36	66					0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73677373	73677373	+	Nonsense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:73677373C>G	ENST00000264448.6	+	8	3827	c.3716C>G	c.(3715-3717)tCa>tGa	p.S1239*	ALMS1_ENST00000377715.1_Nonsense_Mutation_p.S1239*|ALMS1_ENST00000409009.1_Nonsense_Mutation_p.S1197*	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1239	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GCTTCTTACTCACACACAGAG	0.473000													70	129					0	0	1	0	0
PLA2R1	22925	broad.mit.edu	37	2	160801453	160801453	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:160801453G>C	ENST00000283243.7	-	28	4314	c.4108C>G	c.(4108-4110)Caa>Gaa	p.Q1370E	PLA2R1_ENST00000460710.1_5'UTR	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	1370	C-type lectin 8.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						TTTTTTTCTTGACACGGGGAT	0.423000													33	297					0	0	1	0	0
RSL1D1	26156	broad.mit.edu	37	16	11931932	11931932	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr16:11931932C>G	ENST00000571133.1	-	9	1257	c.1185G>C	c.(1183-1185)aaG>aaC	p.K395N	RSL1D1_ENST00000542106.1_Missense_Mutation_p.K175N	NM_015659.2	NP_056474.2	O76021	RL1D1_HUMAN	ribosomal L1 domain containing 1	395					regulation of protein localization|translation	large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome			NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	15						GATTAGGACTCTTTGCTGGAG	0.438000													10	234					0	0	1	0	0
ABHD15	116236	broad.mit.edu	37	17	27893107	27893107	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:27893107C>A	ENST00000307201.4	-	1	1048	c.878G>T	c.(877-879)aGc>aTc	p.S293I	RP11-68I3.2_ENST00000581474.1_RNA	NM_198147.2	NP_937790.2	Q6UXT9	ABH15_HUMAN	abhydrolase domain containing 15	293						extracellular region	carboxylesterase activity			breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	10						TACCCACCTGCTGAGGGCGAT	0.617000													16	49					1.33834e-09	1.43324e-09	1	1	0
ZBTB46	140685	broad.mit.edu	37	20	62421402	62421402	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr20:62421402G>A	ENST00000245663.4	-	2	859	c.709C>T	c.(709-711)Cag>Tag	p.Q237*	ZBTB46_ENST00000395104.1_Nonsense_Mutation_p.Q237*|ZBTB46_ENST00000302995.2_Nonsense_Mutation_p.Q237*	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	237					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					CCTCCGTACTGAGACGGTGAA	0.597000													4	50					0	0	1	0	0
CEP250	11190	broad.mit.edu	37	20	34092600	34092600	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr20:34092600G>C	ENST00000397527.1	+	30	7123	c.6403G>C	c.(6403-6405)Gag>Cag	p.E2135Q	CEP250_ENST00000342580.4_Missense_Mutation_p.E2079Q	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	2135	Gln/Glu-rich.				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			CTCCCCAATGGAGGAACAATC	0.542000													4	93					0	0	1	0	0
CYP8B1	1582	broad.mit.edu	37	3	42916916	42916916	+	Silent	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:42916916C>G	ENST00000316161.4	-	1	717	c.393G>C	c.(391-393)ctG>ctC	p.L131L	CYP8B1_ENST00000437102.1_Silent_p.L131L|KRBOX1_ENST00000426937.1_Intron|RP11-141M3.5_ENST00000471537.1_RNA	NM_004391.2	NP_004382.2	Q9UNU6	CP8B1_HUMAN	cytochrome P450, family 8, subfamily B, polypeptide 1	131					bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)		CATCCCCCCTCAGATGCTTGG	0.502000													21	54					0	0	1	0	0
SPEN	23013	broad.mit.edu	37	1	16260296	16260296	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:16260296G>A	ENST00000375759.3	+	11	7765	c.7561G>A	c.(7561-7563)Gac>Aac	p.D2521N		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2521	RID.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TCTTCCCCCAGACACAAAGGC	0.562000													70	205					0	0	1	0	0
PNOC	5368	broad.mit.edu	37	8	28196682	28196682	+	Silent	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr8:28196682C>A	ENST00000301908.3	+	3	460	c.252C>A	c.(250-252)ctC>ctA	p.L84L	RP11-380I10.4_ENST00000521731.1_RNA|PNOC_ENST00000522209.1_Silent_p.L20L	NM_006228.3	NP_006219.1	Q13519	PNOC_HUMAN	prepronociceptin	84					neuropeptide signaling pathway|sensory perception|synaptic transmission	extracellular region	neuropeptide hormone activity|opioid peptide activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5		Ovarian(32;0.000953)		KIRC - Kidney renal clear cell carcinoma(542;0.104)|Kidney(114;0.125)|Colorectal(74;0.145)|BRCA - Breast invasive adenocarcinoma(99;0.245)		CGGCTGCTCTCTACCAGCCGA	0.652000													20	4					7.45023e-12	8.09503e-12	1	1	0
PPFIBP1	8496	broad.mit.edu	37	12	27788022	27788022	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:27788022C>G	ENST00000318304.8	+	4	527	c.244C>G	c.(244-246)Ctt>Gtt	p.L82V	PPFIBP1_ENST00000535047.1_Missense_Mutation_p.L82V|PPFIBP1_ENST00000545334.1_Missense_Mutation_p.L82V|PPFIBP1_ENST00000542629.1_Missense_Mutation_p.L82V|PPFIBP1_ENST00000537927.1_Intron|PPFIBP1_ENST00000228425.6_Missense_Mutation_p.L82V	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	82					cell adhesion	plasma membrane	protein binding		PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					AGCAGAAACGCTTGTTGAATG	0.413000													23	53					0	0	1	0	0
TBC1D31	93594	broad.mit.edu	37	8	124109655	124109655	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr8:124109655G>C	ENST00000287380.1	+	6	895	c.805G>C	c.(805-807)Gat>Cat	p.D269H	TBC1D31_ENST00000327098.5_Missense_Mutation_p.D269H|TBC1D31_ENST00000522420.1_Missense_Mutation_p.D164H|TBC1D31_ENST00000521676.1_Missense_Mutation_p.D164H|TBC1D31_ENST00000309336.3_Missense_Mutation_p.D269H|TBC1D31_ENST00000378080.2_Missense_Mutation_p.D164H	NM_145647.3	NP_663622.2			TBC1 domain family, member 31									p.D269H(1)									ATTTCTTCCTGATAGTTTTGA	0.398000													5	72					0	0	1	0	0
IARS2	55699	broad.mit.edu	37	1	220273958	220273958	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:220273958C>G	ENST00000366922.1	+	3	632	c.301C>G	c.(301-303)Cag>Gag	p.Q101E	IARS2_ENST00000302637.5_Missense_Mutation_p.Q173E			Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial	173					isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity			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)	TAGAGAAGCTCAGAATCTTTC	0.348000													10	37					0	0	1	0	0
COG8	84342	broad.mit.edu	37	16	69369059	69369059	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr16:69369059T>C	ENST00000306875.4	-	3	892	c.778A>G	c.(778-780)Act>Gct	p.T260A	COG8_ENST00000562081.1_Missense_Mutation_p.T260A|RP11-343C2.9_ENST00000563634.1_Missense_Mutation_p.T135A	NM_032382.4	NP_115758.3	Q96MW5	COG8_HUMAN	component of oligomeric golgi complex 8	260					protein transport	Golgi membrane|Golgi transport complex				breast(3)|kidney(1)|large_intestine(2)|ovary(2)|skin(1)	9						GGAATGGCAGTCAGGATGGAC	0.517000													8	45					0	0	1	0	0
TC2N	123036	broad.mit.edu	37	14	92253914	92253914	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr14:92253914G>C	ENST00000435962.2	-	10	1428	c.1105C>G	c.(1105-1107)Cag>Gag	p.Q369E	TC2N_ENST00000360594.5_Missense_Mutation_p.Q369E|TC2N_ENST00000556018.1_Missense_Mutation_p.Q305E|TC2N_ENST00000340892.5_Missense_Mutation_p.Q369E	NM_001128596.1	NP_001122068	Q8N9U0	TAC2N_HUMAN	tandem C2 domains, nuclear	369	C2.					nucleus				breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		ATTTGTAACTGAATTCTGCTA	0.363000													12	37					0	0	1	0	0
PLEKHO1	51177	broad.mit.edu	37	1	150129184	150129184	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:150129184G>A	ENST00000369124.4	+	4	676	c.398G>A	c.(397-399)cGa>cAa	p.R133Q	PLEKHO1_ENST00000025469.6_Missense_Mutation_p.R133Q|PLEKHO1_ENST00000479194.1_3'UTR|PLEKHO1_ENST00000369126.1_5'UTR	NM_016274.4	NP_057358.2	Q53GL0	PKHO1_HUMAN	pleckstrin homology domain containing, family O member 1	133	Interaction with capping proteins (CPs).					cytoplasm|nucleus|plasma membrane				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	22	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCCATCACCCGAGCCAAGAAC	0.587000													11	77					0	0	1	0	0
TG	7038	broad.mit.edu	37	8	134108561	134108561	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr8:134108561C>T	ENST00000220616.4	+	43	7556	c.7516C>T	c.(7516-7518)Ctg>Ttg	p.L2506L	TG_ENST00000377869.1_Silent_p.L2449L|TG_ENST00000519543.1_Silent_p.L639L|TG_ENST00000542445.1_Silent_p.L876L|SLA_ENST00000524345.1_Intron|SLA_ENST00000395352.3_Intron|SLA_ENST00000518565.1_Intron|SLA_ENST00000338087.5_Intron|SLA_ENST00000517648.1_Intron	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2506					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AGAGGTCGATCTGCTCATTGG	0.577000													26	237					0	0	1	0	0
USP34	9736	broad.mit.edu	37	2	61433904	61433904	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:61433904G>C	ENST00000398571.2	-	71	9113	c.9037C>G	c.(9037-9039)Cag>Gag	p.Q3013E		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	3013					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			CCTTTTCTCTGAAGATAAGGG	0.378000													9	48					0	0	1	0	0
GSC2	2928	broad.mit.edu	37	22	19136549	19136549	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr22:19136549C>T	ENST00000086933.2	-	3	572	c.573G>A	c.(571-573)gcG>gcA	p.A191A		NM_005315.1	NP_005306.1	O15499	GSC2_HUMAN	goosecoid homeobox 2	191					anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.A191A(1)		central_nervous_system(1)|large_intestine(1)|lung(2)	4	Colorectal(54;0.0993)					GCAGGAGCCTCGCGGAAGCCG	0.647000													4	5					0	0	1	0	0
PKD1	5310	broad.mit.edu	37	16	2153839	2153839	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr16:2153839C>T	ENST00000262304.4	-	23	8427	c.8219G>A	c.(8218-8220)gGa>gAa	p.G2740E	PKD1_ENST00000423118.1_Missense_Mutation_p.G2740E|PKD1_ENST00000561991.1_5'UTR	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2740	REJ.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			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						TGACTCGGCTCCCAGCTCTGA	0.647000													13	4					0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48699135	48699135	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:48699135G>C	ENST00000544264.1	-	1	1213	c.933C>G	c.(931-933)aaC>aaG	p.N311K	CELSR3_ENST00000164024.4_Missense_Mutation_p.N311K			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	311					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AGCGTGCCCGGTTCGCCGAGG	0.706000													15	28					0	0	1	0	0
ARHGAP35	2909	broad.mit.edu	37	19	47424472	47424472	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:47424472G>C	ENST00000404338.3	+	1	2540	c.2540G>C	c.(2539-2541)aGa>aCa	p.R847T		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	847					axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										TTTAGCATCAGAAAGAGCCGG	0.423000													65	84					0	0	1	0	0
C9orf152	401546	broad.mit.edu	37	9	112963584	112963584	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr9:112963584C>G	ENST00000400613.4	-	2	973	c.364G>C	c.(364-366)Gag>Cag	p.E122Q	C9orf152_ENST00000473442.1_Intron	NM_001012993.2	NP_001013011.2	Q5JTZ5	CI152_HUMAN	chromosome 9 open reading frame 152	122										NS(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						CAATGCATCTCCAGGTGCGTG	0.587000													48	47					0	0	1	0	0
XYLT2	64132	broad.mit.edu	37	17	48431301	48431301	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:48431301G>T	ENST00000017003.2	+	2	495	c.446G>T	c.(445-447)gGc>gTc	p.G149V	XYLT2_ENST00000507602.1_Missense_Mutation_p.G149V	NM_022167.2	NP_071450.2	Q9H1B5	XYLT2_HUMAN	xylosyltransferase II	149					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					AGCGTGGAGGGCGCCCCCCAG	0.687000													9	28					4.68919e-08	4.96054e-08	1	1	0
NUP205	23165	broad.mit.edu	37	7	135303333	135303333	+	Missense_Mutation	SNP	A	A	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr7:135303333A>C	ENST00000285968.6	+	28	3971	c.3945A>C	c.(3943-3945)ttA>ttC	p.L1315F		NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1315					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						GTGATATTTTACAAGATGTGC	0.378000													29	141					0	0	1	0	0
ACSS3	79611	broad.mit.edu	37	12	81647169	81647169	+	Silent	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:81647169C>G	ENST00000548058.1	+	14	2713	c.1803C>G	c.(1801-1803)ctC>ctG	p.L601L	ACSS3_ENST00000261206.3_Silent_p.L600L|ACSS3_ENST00000548324.1_Silent_p.L283L			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	601						mitochondrion	acetate-CoA ligase activity|ATP binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						CCTTAGCACTCTGTGTATTGA	0.428000													37	161					0	0	1	0	0
MCF2L2	23101	broad.mit.edu	37	3	183097188	183097188	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:183097188C>G	ENST00000328913.3	-	3	469	c.172G>C	c.(172-174)Gag>Cag	p.E58Q	MCF2L2_ENST00000473233.1_Missense_Mutation_p.E58Q|MCF2L2_ENST00000414362.2_Missense_Mutation_p.E58Q|MCF2L2_ENST00000447025.2_Missense_Mutation_p.E58Q	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	58	CRAL-TRIO.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			GCGCCATCCTCCCCTCGGCCT	0.512000													23	9					0	0	1	0	0
FDPS	2224	broad.mit.edu	37	1	155288696	155288696	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:155288696C>G	ENST00000356657.6	+	8	985	c.823C>G	c.(823-825)Cct>Gct	p.P275A	FDPS_ENST00000368356.4_Missense_Mutation_p.P275A|FDPS_ENST00000447866.1_Missense_Mutation_p.P209A|RUSC1-AS1_ENST00000443642.1_RNA|RUSC1-AS1_ENST00000446880.1_RNA|RUSC1-AS1_ENST00000543656.1_RNA	NM_001135821.1	NP_001129293.1	P14324	FPPS_HUMAN	farnesyl diphosphate synthase	275					cholesterol biosynthetic process|interspecies interaction between organisms|isoprenoid biosynthetic process	cytosol|nucleus	dimethylallyltranstransferase activity|geranyltranstransferase activity|metal ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399)	CTTCTACCTTCCTATAGCTGC	0.498000													70	86					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	rs121913273		TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PI3K helical.		E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).|E -> V (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E542K(545)|p.E542Q(10)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TCCTCTCTCTGAAATCACTGA	0.333000	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			25	84					0	0	1	0	0
REEP5	7905	broad.mit.edu	37	5	112238167	112238167	+	Silent	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr5:112238167C>G	ENST00000379638.4	-	3	609	c.261G>C	c.(259-261)ctG>ctC	p.L87L	REEP5_ENST00000545426.1_Silent_p.L87L|REEP5_ENST00000513339.1_Silent_p.L87L|REEP5_ENST00000504247.1_Intron|REEP5_ENST00000474542.2_5'UTR	NM_005669.4	NP_005660.4	Q00765	REEP5_HUMAN	receptor accessory protein 5	87						integral to membrane	protein binding			endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	5		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)		Epithelial(69;1.3e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.26e-08)|all cancers(49;3.56e-07)|Colorectal(14;0.00778)|COAD - Colon adenocarcinoma(37;0.013)		CCCAGTAGGTCAGCCACTGGG	0.398000													13	28					0	0	1	0	0
NCKAP1	10787	broad.mit.edu	37	2	183817172	183817172	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:183817172G>T	ENST00000361354.4	-	23	2934	c.2562C>A	c.(2560-2562)agC>agA	p.S854R	NCKAP1_ENST00000360982.2_Missense_Mutation_p.S860R	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1						apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			GCCACATAAGGCTTTCACTTA	0.313000													19	63					8.00594e-06	8.31724e-06	1	1	0
PCDHGA7	56108	broad.mit.edu	37	5	140763541	140763541	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr5:140763541G>A	ENST00000518325.1	+	1	1075	c.1075G>A	c.(1075-1077)Gac>Aac	p.D359N	PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018920.2	NP_061743.1														NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATCCCTGAAGACACACCTCT	0.418000													26	4					0	0	1	0	0
BMS1P20	96610	broad.mit.edu	37	22	22664141	22664141	+	RNA	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr22:22664141G>A	ENST00000426066.1	+	0	664					NR_027293.1																						AAATTTGAAGGTGCTGTGATT	0.448000													5	70					0	0	1	0	0
MAP4K1	11184	broad.mit.edu	37	19	39103253	39103253	+	Silent	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:39103253G>C	ENST00000591517.1	-	9	691	c.663C>G	c.(661-663)ctC>ctG	p.L221L	MAP4K1_ENST00000396857.2_Silent_p.L221L|MAP4K1_ENST00000586296.1_Silent_p.L221L|MAP4K1_ENST00000589002.1_5'UTR|MAP4K1_ENST00000423454.2_5'UTR|MAP4K1_ENST00000589130.1_Silent_p.L217L	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	221	Protein kinase.				activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CTGCCTACCTGAGAGGGTGCA	0.607000													30	26					0	0	1	0	0
AMICA1	120425	broad.mit.edu	37	11	118071280	118071280	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr11:118071280G>T	ENST00000292067.7	-	6	1231	c.790C>A	c.(790-792)Cag>Aag	p.Q264K	AMICA1_ENST00000356289.5_Missense_Mutation_p.Q274K|AMICA1_ENST00000533261.1_Missense_Mutation_p.Q263K|AMICA1_ENST00000526620.1_Missense_Mutation_p.Q235K	NM_153206.2	NP_694938.2	Q86YT9	JAML1_HUMAN	adhesion molecule, interacts with CXADR antigen 1	274					blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	cell junction|integral to membrane				central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2)	20	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		ATCACCAACTGATTACCACCC	0.502000													26	41					4.87955e-14	5.33525e-14	1	1	0
SKIL	6498	broad.mit.edu	37	3	170108880	170108880	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:170108880G>C	ENST00000458537.3	+	5	2437	c.1728G>C	c.(1726-1728)caG>caC	p.Q576H	SKIL_ENST00000413427.2_Missense_Mutation_p.Q530H|SKIL_ENST00000259119.4_Missense_Mutation_p.Q576H|SKIL_ENST00000426052.2_Missense_Mutation_p.Q556H	NM_001145097.2|NM_001248008.1|NM_005414.4	NP_001138569.1|NP_001234937.1|NP_005405.2	P12757	SKIL_HUMAN	SKI-like oncogene	576					cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development	cytoplasm|PML body	chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|SMAD binding|transcription corepressor activity|transcription repressor activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			AAGAACAGCAGAATTTACAGA	0.313000													31	10					0	0	1	0	0
MLANA	2315	broad.mit.edu	37	9	5908664	5908664	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr9:5908664G>C	ENST00000381477.3	+	5	473	c.313G>C	c.(313-315)Gag>Cag	p.E105Q	MLANA_ENST00000381471.1_Missense_Mutation_p.E105Q|KIAA2026_ENST00000443149.2_Intron|MLANA_ENST00000381476.1_Missense_Mutation_p.E105Q	NM_005511.1	NP_005502.1	Q16655	MAR1_HUMAN	melan-A	105						endoplasmic reticulum membrane|integral to plasma membrane|melanosome|trans-Golgi network	protein binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(1)	8		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(1;1.15e-06)|Lung(218;0.103)		ACCTGCTTATGAGAAACTCTC	0.433000													26	28					0	0	1	0	0
NRXN2	9379	broad.mit.edu	37	11	64457929	64457929	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr11:64457929G>A	ENST00000265459.6	-	5	1259	c.798C>T	c.(796-798)tcC>tcT	p.S266S	NRXN2_ENST00000409571.1_Silent_p.S266S|NRXN2_ENST00000377559.3_Intron|NRXN2_ENST00000377551.1_Silent_p.S266S	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN	neurexin 2	266					cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						CCCCCCCCTCGGAGAACAGTA	0.647000													14	9					0	0	1	0	0
SERPINA3	12	broad.mit.edu	37	14	95080891	95080891	+	Missense_Mutation	SNP	A	A	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr14:95080891A>C	ENST00000467132.1	+	2	1261	c.113A>C	c.(112-114)aAc>aCc	p.N38T	SERPINA3_ENST00000393080.4_Missense_Mutation_p.N38T|RP11-986E7.7_ENST00000553947.1_3'UTR|SERPINA3_ENST00000393078.3_Missense_Mutation_p.N38T			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	38					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		ACCCAGGAGAACCAAGACCGA	0.587000													28	71					0	0	1	0	0
SETD2	29072	broad.mit.edu	37	3	47098400	47098400	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:47098400G>C	ENST00000409792.3	-	15	6916	c.6874C>G	c.(6874-6876)Caa>Gaa	p.Q2292E		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	2292	Gln-rich.|Low charge region.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			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)		ATGGTTGCTTGAGACTGTGCA	0.463000			"""N, F, S, Mis"""		clear cell renal carcinoma								23	20					0	0	1	0	0
MEGF8	1954	broad.mit.edu	37	19	42837807	42837807	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:42837807G>A	ENST00000334370.4	+	2	873	c.238G>A	c.(238-240)Gag>Aag	p.E80K	MEGF8_ENST00000251268.6_Missense_Mutation_p.E80K	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	80	CUB 1.					integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CCTGGACACAGAGTGCACGTA	0.617000													21	90					0	0	1	0	0
HBQ1	3049	broad.mit.edu	37	16	230776	230776	+	Silent	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr16:230776C>A	ENST00000199708.2	+	2	241	c.207C>A	c.(205-207)ctC>ctA	p.L69L		NM_005331.4	NP_005322.1	P09105	HBAT_HUMAN	hemoglobin, theta 1	69						hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			large_intestine(1)	1		all_cancers(16;2.03e-06)|all_epithelial(16;5.16e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0138)|all_lung(18;0.0306)				CGCTGAGCCTCGCCGTGGAGC	0.697000													3	12					0.115264	0.115264	1	1	0
HOXA10	3206	broad.mit.edu	37	7	27211618	27211618	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr7:27211618C>T	ENST00000283921.4	-	2	1132	c.1133G>A	c.(1132-1134)aGa>aAa	p.R378K	RP1-170O19.20_ENST00000470747.4_Intron|HOXA10_ENST00000396344.4_Missense_Mutation_p.R62K|RP1-170O19.20_ENST00000465941.1_Intron|HOXA10_ENST00000521421.1_5'UTR	NM_018951.3	NP_061824.3	P31260	HXA10_HUMAN	homeobox A10	378					spermatogenesis		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	9						TTTCACTTGTCTGTCCGTGAG	0.483000													27	84					0	0	1	0	0
CORO1B	57175	broad.mit.edu	37	11	67207901	67207901	+	Missense_Mutation	SNP	C	C	G	rs149251927		TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr11:67207901C>G	ENST00000393893.1	-	8	869	c.766G>C	c.(766-768)Gag>Cag	p.E256Q	CORO1B_ENST00000341356.5_Missense_Mutation_p.E256Q	NM_001018070.2	NP_001018080.1	Q9BR76	COR1B_HUMAN	coronin, actin binding protein, 1B	256					actin cytoskeleton organization	actin cytoskeleton|cytoplasm	actin filament binding	p.E256Q(1)		cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			ATGGGTTCCTCGAGGTTTTCC	0.622000													8	20					0	0	1	0	0
UTP20	27340	broad.mit.edu	37	12	101776903	101776903	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:101776903G>C	ENST00000261637.4	+	59	7915	c.7741G>C	c.(7741-7743)Gac>Cac	p.D2581H		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	2581					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						GATAAAAGAAGACCTGGAAGA	0.418000													21	31					0	0	1	0	0
LRRN1	57633	broad.mit.edu	37	3	3887605	3887605	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:3887605C>G	ENST00000319331.3	+	2	2041	c.1280C>G	c.(1279-1281)tCt>tGt	p.S427C	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	427	Ig-like C2-type.					integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		CCAATGATATCTCACGACAGC	0.502000													53	66					0	0	1	0	0
HERC6	55008	broad.mit.edu	37	4	89363544	89363544	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr4:89363544G>C	ENST00000380265.5	+	22	3076	c.2893G>C	c.(2893-2895)Gag>Cag	p.E965Q	HERC6_ENST00000264346.7_Missense_Mutation_p.E1001Q	NM_001165136.1	NP_001158608.1	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	1001	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	ubiquitin-protein ligase activity	p.E1001K(1)|p.M1000I(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		GGAAAGAATGGAGGAAGCACT	0.428000													4	18					0	0	1	0	0
HSP90AB2P	391634	broad.mit.edu	37	4	13338589	13338589	+	RNA	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr4:13338589G>T	ENST00000602906.1	+	0	448																				kidney(3)|lung(1)	4						TCTGCTGGAGGTTCCTTCACT	0.463000													20	55					2.37509e-13	2.59146e-13	1	1	0
ACOT13	55856	broad.mit.edu	37	6	24667557	24667557	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr6:24667557G>C	ENST00000230048.4	+	1	259	c.66G>C	c.(64-66)gaG>gaC	p.E22D	ACOT13_ENST00000537591.1_5'UTR	NM_018473.3	NP_060943.1	Q9NPJ3	ACO13_HUMAN	acyl-CoA thioesterase 13	22					protein homotetramerization	mitochondrion	acyl-CoA thioesterase activity			large_intestine(1)	1						GCAATTTTGAGAGAGTTTTGG	0.502000											OREG0017230	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	29					0	0	1	0	0
EPHA10	284656	broad.mit.edu	37	1	38227612	38227612	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:38227612C>T	ENST00000373048.4	-	3	314	c.315G>A	c.(313-315)ctG>ctA	p.L105L	EPHA10_ENST00000427468.2_Silent_p.L105L|EPHA10_ENST00000319637.6_Silent_p.L105L	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	105						extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GTGTGAACTGCAGTTCCACGA	0.617000													71	57					0	0	1	0	0
VPS33A	65082	broad.mit.edu	37	12	122750907	122750907	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:122750907C>T	ENST00000267199.4	-	1	161	c.49G>A	c.(49-51)Gag>Aag	p.E17K	RP11-512M8.5_ENST00000535844.1_Missense_Mutation_p.E17K|VPS33A_ENST00000451053.2_Missense_Mutation_p.E17K	NM_022916.4	NP_075067.2	Q96AX1	VP33A_HUMAN	vacuolar protein sorting 33 homolog A (S. cerevisiae)	17					lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis	early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		CGCACCGCCTCGCGCAACACG	0.677000													8	36					0	0	1	0	0
LACTB2	51110	broad.mit.edu	37	8	71550853	71550853	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr8:71550853C>G	ENST00000276590.4	-	6	789	c.753G>C	c.(751-753)gaG>gaC	p.E251D	RP11-382J12.1_ENST00000518553.1_Intron|RP11-382J12.1_ENST00000499227.2_Intron|LACTB2_ENST00000522447.1_Missense_Mutation_p.E251D|LACTB2_ENST00000517601.1_5'UTR	NM_016027.2	NP_057111.1	Q53H82	LACB2_HUMAN	lactamase, beta 2	251							hydrolase activity|metal ion binding			endometrium(2)|large_intestine(1)|liver(1)|lung(4)|ovary(1)|prostate(1)	10	Breast(64;0.0716)		Epithelial(68;0.00319)|all cancers(69;0.0175)|OV - Ovarian serous cystadenocarcinoma(28;0.0628)|BRCA - Breast invasive adenocarcinoma(89;0.166)			CATGTAAATTCTCAGGAGTAT	0.244000													34	18					0	0	1	0	0
LSM14B	149986	broad.mit.edu	37	20	60708371	60708371	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr20:60708371G>C	ENST00000253001.4	+	8	1218	c.1012G>C	c.(1012-1014)Gag>Cag	p.E338Q	LSM14B_ENST00000279068.6_Missense_Mutation_p.E338Q			Q9BX40	LS14B_HUMAN	LSM14B, SCD6 homolog B (S. cerevisiae)	338					multicellular organismal development|regulation of translation	ribonucleoprotein complex				endometrium(3)|kidney(1)|lung(4)	8	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.28e-07)			GTGGGCCGAAGAGAGGAAGCT	0.612000													34	44					0	0	1	0	0
CCDC108	255101	broad.mit.edu	37	2	219870931	219870931	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:219870931G>C	ENST00000341552.5	-	31	4817	c.4734C>G	c.(4732-4734)atC>atG	p.I1578M	CCDC108_ENST00000453220.1_Missense_Mutation_p.I1578M|CCDC108_ENST00000441968.1_Missense_Mutation_p.I1578M|AC097468.4_ENST00000441450.1_RNA	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1578						integral to membrane	structural molecule activity	p.I1578M(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCTGGTTCTTGATGGGAGGCA	0.607000													38	8					0	0	1	0	0
KLF16	83855	broad.mit.edu	37	19	1863162	1863162	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:1863162G>C	ENST00000250916.4	-	1	405	c.335C>G	c.(334-336)tCg>tGg	p.S112W		NM_031918.3	NP_114124.1	Q9BXK1	KLF16_HUMAN	Kruppel-like factor 16	112	Ala/Pro-rich.|Ser-rich.					nucleus	DNA binding|zinc ion binding			lung(1)	1		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ggcgcggcccgaggacgggga	0.771000													2	0					0	0	1	0	0
NDUFAF7	55471	broad.mit.edu	37	2	37474653	37474653	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:37474653C>G	ENST00000002125.4	+	9	1031	c.991C>G	c.(991-993)Cta>Gta	p.L331V	NDUFAF7_ENST00000336237.6_Missense_Mutation_p.L233V	NM_144736.4	NP_653337.1			NADH dehydrogenase (ubiquinone) complex I, assembly factor 7																		AACAGCAGATCTAACAGCTGA	0.398000													11	175					0	0	1	0	0
NUTM1	256646	broad.mit.edu	37	15	34647761	34647761	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr15:34647761C>T	ENST00000537011.1	+	8	1934	c.1552C>T	c.(1552-1554)Cag>Tag	p.Q518*	NUTM1_ENST00000438749.3_Nonsense_Mutation_p.Q508*|NUTM1_ENST00000333756.4_Nonsense_Mutation_p.Q490*	NM_001284292.1	NP_001271221.1			NUT midline carcinoma, family member 1																		CAGTGGCGCTCAGTTGGACTC	0.572000													17	48					0	0	1	0	0
CCDC73	493860	broad.mit.edu	37	11	32632777	32632777	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr11:32632777C>G	ENST00000335185.5	-	17	2974	c.2931G>C	c.(2929-2931)ttG>ttC	p.L977F		NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	977										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					TCCAGTTATTCAAAGTGTCAG	0.393000													26	78					0	0	1	0	0
PRDM11	56981	broad.mit.edu	37	11	45246160	45246160	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr11:45246160G>C	ENST00000263765.4	+	8	1486	c.1237G>C	c.(1237-1239)Gag>Cag	p.E413Q	PRDM11_ENST00000528980.1_Intron|PRDM11_ENST00000424263.2_Missense_Mutation_p.E379Q|CTD-2560E9.3_ENST00000527450.1_RNA|PRDM11_ENST00000530656.1_Missense_Mutation_p.E413Q			Q9NQV5	PRD11_HUMAN	PR domain containing 11	413										endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						AGGCCAATTGGAGGATGAAGA	0.577000													38	63					0	0	1	0	0
FH	2271	broad.mit.edu	37	1	241663871	241663871	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:241663871G>A	ENST00000366560.3	-	9	1294	c.1256C>T	c.(1255-1257)tCa>tTa	p.S419L		NM_000143.3	NP_000134.2	P07954	FUMH_HUMAN	fumarate hydratase	419					fumarate metabolic process|tricarboxylic acid cycle	cell junction|mitochondrial matrix|tricarboxylic acid cycle enzyme complex	fumarate hydratase activity			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(2)	26	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)		CAGCCTGGCTGAGTGTAACAC	0.438000			"""Mis, N, F"""			"""lieomyomatosis, renal"""			Hereditary Leiomyomatosis and Renal Cell Cancer				51	24					0	0	1	0	0
TRAM1	23471	broad.mit.edu	37	8	71520314	71520314	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr8:71520314C>G	ENST00000262213.2	-	1	290	c.121G>C	c.(121-123)Gag>Cag	p.E41Q	TRAM1_ENST00000536748.1_Missense_Mutation_p.E10Q|TRAM1_ENST00000521049.1_5'UTR	NM_014294.5	NP_055109.1	Q15629	TRAM1_HUMAN	translocation associated membrane protein 1	41					cotranslational protein targeting to membrane|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	17			Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)			GGGCTCACCTCAAACATGAGC	0.692000													19	4					0	0	1	0	0
CDKN2A	1029	broad.mit.edu	37	9	21974736	21974736	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr9:21974736G>C	ENST00000304494.5	-	1	361	c.91C>G	c.(91-93)Ctg>Gtg	p.L31V	CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000446177.1_Missense_Mutation_p.L31V|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000498124.1_Missense_Mutation_p.L31V|CDKN2A_ENST00000579122.1_Missense_Mutation_p.L31V|CDKN2A_ENST00000530628.2_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	31					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(23)|p.V28_E33del(2)|p.R29_A34del(2)|p.0(1)|p.V28_V51del(1)|p.R29fs*9(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GCCTCCAGCAGCGCCCGCACC	0.736000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			10	19					0	0	1	0	0
STX7	8417	broad.mit.edu	37	6	132785148	132785148	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr6:132785148C>T	ENST00000367941.2	-	9	790	c.677G>A	c.(676-678)aGg>aAg	p.R226K	STX7_ENST00000367937.4_Missense_Mutation_p.R226K	NM_003569.2	NP_003560.2	O15400	STX7_HUMAN	syntaxin 7	226	t-SNARE coiled-coil homology.				intracellular protein transport|post-Golgi vesicle-mediated transport	early endosome membrane|integral to membrane	SNAP receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(1)|lung(5)	19	Breast(56;0.0615)			OV - Ovarian serous cystadenocarcinoma(155;0.00532)|GBM - Glioblastoma multiforme(226;0.0114)		ATCTGCTGCCCTTGACAGCTG	0.393000													28	35					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49424126	49424126	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:49424126C>T	ENST00000301067.7	-	42	13935	c.13936G>A	c.(13936-13938)Gaa>Aaa	p.E4646K		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		CCCAGCTCTTCAGATGGGGTG	0.612000													5	6					0	0	1	0	0
PCDH7	5099	broad.mit.edu	37	4	30724469	30724469	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr4:30724469C>T	ENST00000361762.2	+	1	2433	c.1425C>T	c.(1423-1425)gaC>gaT	p.D475D	PCDH7_ENST00000543491.1_Silent_p.D475D	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	475	Cadherin 4.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						CAGCCAGCGACACCGAGGGCG	0.627000													8	31					0	0	1	0	0
UBASH3A	53347	broad.mit.edu	37	21	43833142	43833142	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr21:43833142C>G	ENST00000319294.6	+	4	395	c.364C>G	c.(364-366)Cag>Gag	p.Q122E	UBASH3A_ENST00000291535.6_Missense_Mutation_p.Q122E|UBASH3A_ENST00000398367.1_Missense_Mutation_p.Q122E	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	122						cytosol|nucleus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						GTGTGAAGACCAGAAGGTGGA	0.512000													33	141					0	0	1	0	0
SEL1L3	23231	broad.mit.edu	37	4	25760599	25760599	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr4:25760599G>C	ENST00000399878.3	-	21	3169	c.3047C>G	c.(3046-3048)tCt>tGt	p.S1016C	SEL1L3_ENST00000264868.5_Missense_Mutation_p.S981C|SEL1L3_ENST00000502949.1_Missense_Mutation_p.S863C	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	1016						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						GATGTTATTAGAATGGAGAGT	0.428000													41	48					0	0	1	0	0
PIK3R5	23533	broad.mit.edu	37	17	8808182	8808182	+	Silent	SNP	G	G	A	rs144885920		TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:8808182G>A	ENST00000447110.1	-	5	448	c.324C>T	c.(322-324)acC>acT	p.T108T	PIK3R5_ENST00000581552.1_Silent_p.T108T|PIK3R5_ENST00000584803.1_Silent_p.T108T	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	108					platelet activation	cytosol|membrane|nucleus				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						ACCGGTGGTAGGTGCTGGCTG	0.552000													10	28					0	0	1	0	0
SHROOM4	57477	broad.mit.edu	37	X	50377642	50377642	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chrX:50377642G>A	ENST00000376020.2	-	4	1456	c.1431C>T	c.(1429-1431)acC>acT	p.T477T	SHROOM4_ENST00000460112.3_Silent_p.T361T|SHROOM4_ENST00000289292.7_Silent_p.T477T	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	477					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					CCACTTGTCTGGTCTTTCTTT	0.527000													73	7					0	0	1	0	0
COPS4	51138	broad.mit.edu	37	4	83984258	83984258	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr4:83984258C>G	ENST00000509093.1	+	7	1523	c.745C>G	c.(745-747)Ctt>Gtt	p.L249V	COPS4_ENST00000264389.2_Missense_Mutation_p.L249V|COPS4_ENST00000503682.1_Missense_Mutation_p.L249V|COPS4_ENST00000511653.1_Missense_Mutation_p.L249V	NM_001258006.1	NP_001244935.1	Q9BT78	CSN4_HUMAN	COP9 signalosome subunit 4	249	PCI.				cullin deneddylation	cytoplasm|signalosome	protein binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(2)	13		Hepatocellular(203;0.114)				GCTAGCTACTCTTTTTAAGGA	0.378000													20	55					0	0	1	0	0
RNF139	11236	broad.mit.edu	37	8	125499414	125499414	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr8:125499414C>G	ENST00000303545.3	+	2	1896	c.1524C>G	c.(1522-1524)atC>atG	p.I508M		NM_007218.3	NP_009149.2	Q8WU17	RN139_HUMAN	ring finger protein 139	508					negative regulation of cell proliferation|regulation of protein ubiquitination	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(1)	20	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			ATTTTAACATCTACTTACAAG	0.378000													20	151					0	0	1	0	0
PPM1L	151742	broad.mit.edu	37	3	160786817	160786817	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:160786817G>A	ENST00000498165.1	+	4	1056	c.955G>A	c.(955-957)Gag>Aag	p.E319K	PPM1L_ENST00000480117.1_3'UTR|PPM1L_ENST00000295839.9_Missense_Mutation_p.E192K|PPM1L_ENST00000464260.1_Missense_Mutation_p.E140K	NM_139245.2	NP_640338.2	Q5SGD2	PPM1L_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1L	319	PP2C-like.				protein dephosphorylation|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			ATTCATCAAGGAGCGCTTGGA	0.468000													58	45					0	0	1	0	0
PTPN13	5783	broad.mit.edu	37	4	87622564	87622564	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr4:87622564G>C	ENST00000436978.1	+	7	1285	c.805G>C	c.(805-807)Gaa>Caa	p.E269Q	PTPN13_ENST00000511467.1_Missense_Mutation_p.E269Q|PTPN13_ENST00000427191.2_Missense_Mutation_p.E269Q|PTPN13_ENST00000411767.2_Missense_Mutation_p.E269Q|PTPN13_ENST00000316707.6_Missense_Mutation_p.E269Q	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	269						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		TGAAGATTCTGAAAATACATT	0.383000													9	23					0	0	1	0	0
ING4	51147	broad.mit.edu	37	12	6761554	6761554	+	Silent	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:6761554G>C	ENST00000341550.4	-	6	574	c.528C>G	c.(526-528)acC>acG	p.T176T	ING4_ENST00000396807.4_Silent_p.T177T|ING4_ENST00000486287.1_Intron|ING4_ENST00000412586.2_Silent_p.T174T|ING4_ENST00000446105.2_Silent_p.T173T|ING4_ENST00000444704.2_Silent_p.T153T|ING4_ENST00000423703.2_Intron			Q9UNL4	ING4_HUMAN	inhibitor of growth family, member 4	177					apoptosis|cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell proliferation|negative regulation of growth|negative regulation of transcription, DNA-dependent|positive regulation of apoptosis	histone acetyltransferase complex	protein binding|transcription coactivator activity|zinc ion binding			central_nervous_system(3)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	10						CACTGCCAAAGGTCACTGAGG	0.512000													28	112					0	0	1	0	0
RNF150	57484	broad.mit.edu	37	4	141832307	141832307	+	Missense_Mutation	SNP	T	T	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr4:141832307T>G	ENST00000515673.2	-	6	1222	c.1189A>C	c.(1189-1191)Act>Cct	p.T397P	RNF150_ENST00000306799.3_Missense_Mutation_p.T355P|RNF150_ENST00000507500.1_Missense_Mutation_p.T397P|RNF150_ENST00000379512.2_Missense_Mutation_p.T256P|RNF150_ENST00000420921.2_Missense_Mutation_p.T256P			Q9ULK6	RN150_HUMAN	ring finger protein 150							integral to membrane	zinc ion binding			breast(1)|large_intestine(10)|lung(7)|ovary(1)	19	all_hematologic(180;0.162)					CTGTTAGTAGTAAAGATGACG	0.463000													5	33					0	0	1	0	0
PIK3C2B	5287	broad.mit.edu	37	1	204400860	204400860	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:204400860A>G	ENST00000367187.3	-	29	4773	c.4217T>C	c.(4216-4218)tTt>tCt	p.F1406S	RP11-739N20.2_ENST00000443515.1_RNA|PIK3C2B_ENST00000424712.2_Missense_Mutation_p.F1378S	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	1406	PX.				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GAACTCCTCAAAGGTCCGCTG	0.527000											OREG0014134	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	134					0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45396805	45396805	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr5:45396805G>A	ENST00000303230.4	-	4	1076	c.1019C>T	c.(1018-1020)tCt>tTt	p.S340F		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	340						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CTTTCCCCAAGAATCATTCTG	0.428000													19	59					0	0	1	0	0
PIGQ	9091	broad.mit.edu	37	16	632999	632999	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr16:632999C>T	ENST00000321878.5	+	11	1869	c.1710C>T	c.(1708-1710)atC>atT	p.I570I	PIGQ_ENST00000409527.2_Silent_p.I570I|PIGQ_ENST00000026218.5_Silent_p.L550L	NM_004204.3	NP_004195.2	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	0					C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				GGGAGCTCATCTACCCCTGGA	0.672000													57	72					0	0	1	0	0
SARNP	84324	broad.mit.edu	37	12	56188173	56188173	+	Splice_Site	SNP	T	T	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:56188173T>C	ENST00000546837.1	-	12	1314		c.e12-2		SARNP_ENST00000552080.1_Splice_Site|SARNP_ENST00000444631.2_Splice_Site|SARNP_ENST00000336133.3_Splice_Site																							ATCCCAAACCTGAAGAAGGAA	0.358000													69	234					0	0	1	0	0
OSBP	5007	broad.mit.edu	37	11	59368846	59368846	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr11:59368846G>A	ENST00000263847.1	-	5	1513	c.1034C>T	c.(1033-1035)tCt>tTt	p.S345F		NM_002556.2	NP_002547.1	P22059	OSBP1_HUMAN	oxysterol binding protein	345					lipid transport	Golgi membrane	oxysterol binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		CCCTTTGCCAGAGCAGCACTG	0.393000													13	43					0	0	1	0	0
SLC35D1	23169	broad.mit.edu	37	1	67518490	67518490	+	Silent	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:67518490G>C	ENST00000235345.5	-	3	373	c.288C>G	c.(286-288)gtC>gtG	p.V96V	SLC35D1_ENST00000506472.2_Silent_p.V17V	NM_015139.2	NP_055954.1	Q9NTN3	S35D1_HUMAN	solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1	96					chondroitin sulfate biosynthetic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	integral to endoplasmic reticulum membrane	UDP-glucuronic acid transmembrane transporter activity|UDP-N-acetylgalactosamine transmembrane transporter activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)	10					Lorazepam(DB00186)	CAGGAAACTTGACTACTCTGA	0.393000													62	44					0	0	1	0	0
PDE11A	50940	broad.mit.edu	37	2	178705092	178705092	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:178705092C>T	ENST00000286063.6	-	6	1703	c.1386G>A	c.(1384-1386)gaG>gaA	p.E462E	PDE11A_ENST00000389683.3_Silent_p.E18E|PDE11A_ENST00000449286.2_Silent_p.E104E|PDE11A_ENST00000497003.1_5'UTR|PDE11A_ENST00000409504.1_Silent_p.E104E|PDE11A_ENST00000358450.4_Silent_p.E212E	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A		GAF 2.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	p.E212D(1)|p.E462D(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			ATGATGATTTCTCCATGCTTT	0.423000									Primary Pigmented Nodular Adrenocortical Disease, Familial				69	1					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152283396	152283396	+	Silent	SNP	A	A	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:152283396A>T	ENST00000368799.1	-	3	4001	c.3966T>A	c.(3964-3966)tcT>tcA	p.S1322S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1322	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGCTGTCTGCAGAGTGCCCGT	0.527000									Ichthyosis				14	302					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152477516	152477516	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:152477516C>G	ENST00000427231.2	-	72	10679	c.10477G>C	c.(10477-10479)Gaa>Caa	p.E3493Q	NEB_ENST00000603639.1_Missense_Mutation_p.E3493Q|NEB_ENST00000604864.1_Missense_Mutation_p.E3493Q|NEB_ENST00000397345.3_Missense_Mutation_p.E3493Q|NEB_ENST00000409198.1_Missense_Mutation_p.E3250Q|NEB_ENST00000172853.10_Missense_Mutation_p.E3250Q	NM_001164507.1|NM_001271208.1	NP_001157979|NP_001258137.1	P20929	NEBU_HUMAN	nebulin	3493					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTCTTGGCTTCTTCCATGGCC	0.438000													11	12					0	0	1	0	0
RPAP2	79871	broad.mit.edu	37	1	92767046	92767046	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:92767046G>C	ENST00000610020.1	+	3	242	c.133G>C	c.(133-135)Gaa>Caa	p.E45Q	RPAP2_ENST00000484158.1_Intron	NM_024813.2	NP_079089.2	Q8IXW5	RPAP2_HUMAN	RNA polymerase II associated protein 2							integral to membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	22		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)		AGCTGAACTAGAAGCAGCTGT	0.328000													17	24					0	0	1	0	0
LRRC16A	55604	broad.mit.edu	37	6	25581557	25581557	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr6:25581557C>T	ENST00000329474.6	+	31	3264	c.2896C>T	c.(2896-2898)Cgg>Tgg	p.R966W		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	966	Inhibits capping activity of CAPZA2 (By similarity).				actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus		p.R966W(1)		breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						ACAGGAGAAGCGGAGCTCGGG	0.463000													15	5					0	0	1	0	0
GRM1	2911	broad.mit.edu	37	6	146350756	146350756	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr6:146350756C>T	ENST00000392299.2	+	2	573	c.103C>T	c.(103-105)Cag>Tag	p.Q35*	GRM1_ENST00000282753.1_Nonsense_Mutation_p.Q35*|GRM1_ENST00000492807.2_Nonsense_Mutation_p.Q35*|GRM1_ENST00000355289.4_Nonsense_Mutation_p.Q35*|GRM1_ENST00000361719.2_Nonsense_Mutation_p.Q35*|GRM1_ENST00000507907.1_Nonsense_Mutation_p.Q35*			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	35					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	AGCGTCGTCTCAGCGCTCGGT	0.582000													44	81					0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28377404	28377404	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr15:28377404C>G	ENST00000261609.7	-	81	12520	c.12412G>C	c.(12412-12414)Gag>Cag	p.E4138Q		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	4138					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			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)		TGCAGCGCCTCCACCTTCAGA	0.567000													3	14					0	0	1	0	0
RALGPS2	55103	broad.mit.edu	37	1	178848093	178848093	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:178848093G>C	ENST00000367635.3	+	10	1140	c.802G>C	c.(802-804)Gaa>Caa	p.E268Q	RALGPS2_ENST00000477383.1_3'UTR|RALGPS2_ENST00000367634.2_Missense_Mutation_p.E268Q	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2	268	Ras-GEF.				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						GTATATAGAAGAACTACAAAA	0.338000													10	32					0	0	1	0	0
CHRD	8646	broad.mit.edu	37	3	184107170	184107170	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:184107170G>A	ENST00000204604.1	+	23	3074	c.2828G>A	c.(2827-2829)aGa>aAa	p.R943K	CHRD_ENST00000545352.1_Missense_Mutation_p.R485K|CHRD_ENST00000450923.1_Missense_Mutation_p.R942K|EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000348986.3_Missense_Mutation_p.R903K	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	943					BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCAGAGACCAGAACTGATCCA	0.607000													6	13					0	0	1	0	0
SFMBT2	57713	broad.mit.edu	37	10	7409707	7409707	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr10:7409707C>A	ENST00000361972.4	-	4	430	c.340G>T	c.(340-342)Gac>Tac	p.D114Y	SFMBT2_ENST00000397167.1_Missense_Mutation_p.D114Y|SFMBT2_ENST00000379711.2_Missense_Mutation_p.D114Y|SFMBT2_ENST00000397160.3_Missense_Mutation_p.D114Y|SFMBT2_ENST00000379713.3_Missense_Mutation_p.D114Y	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	114					regulation of transcription, DNA-dependent	nucleus				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						GCCCTGCGGTCCTCCCCGTAA	0.602000													3	49					0.115264	0.115264	1	1	0
SPTBN1	6711	broad.mit.edu	37	2	54883057	54883057	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:54883057G>T	ENST00000333896.5	+	28	6314	c.5929G>T	c.(5929-5931)Gaa>Taa	p.E1977*	SPTBN1_ENST00000356805.4_Nonsense_Mutation_p.E1990*	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1990	Interaction with ANK2.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			ACAGATCAAGGAAAAATTACT	0.393000													13	31					0.00136819	0.00139224	1	1	0
GEMIN5	25929	broad.mit.edu	37	5	154268890	154268890	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr5:154268890C>G	ENST00000285873.7	-	27	4425	c.4350G>C	c.(4348-4350)gaG>gaC	p.E1450D		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	1450					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CCTTAATGCTCTCAGGAAATT	0.368000													13	16					0	0	1	0	0
PIK3AP1	118788	broad.mit.edu	37	10	98383279	98383279	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr10:98383279C>A	ENST00000339364.5	-	11	1804	c.1685G>T	c.(1684-1686)aGt>aTt	p.S562I	PIK3AP1_ENST00000371110.2_Missense_Mutation_p.S384I|PIK3AP1_ENST00000371109.3_Missense_Mutation_p.S161I	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	562						cytoplasm|plasma membrane		p.S562I(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		CCGCTCTTGACTTTTTTCTGC	0.343000													58	81					1.00798e-23	1.13181e-23	1	1	0
MCM6	4175	broad.mit.edu	37	2	136603845	136603845	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:136603845G>C	ENST00000264156.2	-	15	2231	c.2171C>G	c.(2170-2172)tCt>tGt	p.S724C	MCM6_ENST00000492091.1_5'UTR	NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	724					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)	Atorvastatin(DB01076)	AATAAGGTTAGAGATTCGGCA	0.483000													55	38					0	0	1	0	0
LRFN4	78999	broad.mit.edu	37	11	66625620	66625620	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr11:66625620C>T	ENST00000309602.4	+	1	648	c.405C>T	c.(403-405)atC>atT	p.I135I	PC_ENST00000393955.2_Intron|PC_ENST00000393958.2_Intron|PC_ENST00000393960.1_Intron|LRFN4_ENST00000393952.3_Silent_p.I135I	NM_024036.4	NP_076941.2	Q6PJG9	LRFN4_HUMAN	leucine rich repeat and fibronectin type III domain containing 4	135						integral to membrane				breast(1)|lung(1)|prostate(1)	3						TGGGCCGCATCGCGCCGGGAG	0.682000													61	17					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3009031	3009031	+	Silent	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr8:3009031G>T	ENST00000602557.1	-	41	6477	c.5922C>A	c.(5920-5922)acC>acA	p.T1974T	CSMD1_ENST00000542608.1_Silent_p.T1973T|CSMD1_ENST00000602723.1_Silent_p.T1974T|CSMD1_ENST00000400186.3_Silent_p.T1974T|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000537824.1_Silent_p.T1973T|CSMD1_ENST00000539096.1_Silent_p.T1973T|CSMD1_ENST00000520002.1_Silent_p.T1974T			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1974						integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TCCCTCCACAGGTTGCTGTTA	0.527000													3	2					0.00909568	0.00918382	1	1	0
ERCC3	2071	broad.mit.edu	37	2	128016992	128016992	+	Silent	SNP	T	T	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:128016992T>C	ENST00000493187.2	-	14	2368	c.1905A>G	c.(1903-1905)gaA>gaG	p.E635E	ERCC3_ENST00000285398.2_Silent_p.E699E			P19447	ERCC3_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 3	699	Helicase C-terminal.				cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		ACGCCAAGTCTTCCTCCTCCA	0.572000			"""Mis, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				39	66					0	0	1	0	0
BPIFB4	149954	broad.mit.edu	37	20	31685467	31685467	+	Silent	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr20:31685467C>A	ENST00000375483.3	+	11	1443	c.1443C>A	c.(1441-1443)atC>atA	p.I481I		NM_182519.2	NP_872325.2	P59827	LPLC4_HUMAN	BPI fold containing family B, member 4	481						cytoplasm|extracellular region	lipid binding										TCATCAGGATCCAGGTGCTGA	0.597000													29	256					1.39806e-14	1.53668e-14	1	1	0
KIAA0513	9764	broad.mit.edu	37	16	85100813	85100813	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr16:85100813G>C	ENST00000566428.1	+	2	767	c.136G>C	c.(136-138)Gag>Cag	p.E46Q	KIAA0513_ENST00000538274.1_Missense_Mutation_p.E46Q|KIAA0513_ENST00000258180.3_Missense_Mutation_p.E46Q|KIAA0513_ENST00000567328.1_Missense_Mutation_p.E46Q			O60268	K0513_HUMAN	KIAA0513	46						cytoplasm				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(9)|pancreas(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.234)		ATCAGAGAGTGAGACCACTGA	0.647000													15	46					0	0	1	0	0
NFKBIB	4793	broad.mit.edu	37	19	39396010	39396010	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:39396010C>T	ENST00000392079.3	+	3	456	c.358C>T	c.(358-360)Cgg>Tgg	p.R120W	NFKBIB_ENST00000572515.1_Missense_Mutation_p.R152W|NFKBIB_ENST00000313582.5_Missense_Mutation_p.R152W			Q15653	IKBB_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, beta	152					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent	cytosol|nucleus	protein binding|signal transducer activity|transcription coactivator activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	8	all_cancers(60;4.39e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			GCCCCGCCCCCGGCGCCCCAG	0.711000													44	21					0	0	1	0	0
ARHGAP35	2909	broad.mit.edu	37	19	47423316	47423316	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:47423316G>C	ENST00000404338.3	+	1	1384	c.1384G>C	c.(1384-1386)Gag>Cag	p.E462Q		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	462	FF 3.				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										TATTATGAATGAGGATTTCTA	0.403000													17	37					0	0	1	0	0
MYH7B	57644	broad.mit.edu	37	20	33588881	33588881	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr20:33588881G>A	ENST00000262873.7	+	39	5613	c.5521G>A	c.(5521-5523)Gag>Aag	p.E1841K		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	1799						membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			GACGGTGCGCGAGCTCCAGGC	0.637000													10	53					0	0	1	0	0
ZNF7	7553	broad.mit.edu	37	8	146067042	146067042	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr8:146067042C>G	ENST00000528372.1	+	5	790	c.550C>G	c.(550-552)Ctt>Gtt	p.L184V	ZNF7_ENST00000325241.6_Missense_Mutation_p.L184V|ZNF7_ENST00000529819.1_Intron|ZNF7_ENST00000325217.5_Intron|ZNF7_ENST00000544249.1_Missense_Mutation_p.L88V|ZNF7_ENST00000446747.2_Missense_Mutation_p.L195V|ZNF7_ENST00000525266.1_Intron|ZNF7_ENST00000532393.1_3'UTR			P17097	ZNF7_HUMAN	zinc finger protein 7	184					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(5)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143)	Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;2.11e-07)		TTGTCAGCCTCTTGAAAGTCA	0.537000													13	85					0	0	1	0	0
SLC10A6	345274	broad.mit.edu	37	4	87749251	87749251	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr4:87749251G>C	ENST00000273905.6	-	4	803	c.656C>G	c.(655-657)tCt>tGt	p.S219C	SLC10A6_ENST00000505535.1_Intron	NM_197965.2	NP_932069.1	Q3KNW5	SOAT_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 6	219						integral to membrane|plasma membrane	bile acid:sodium symporter activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		TGAATTCCAAGATCCTTTCGC	0.478000													7	40					0	0	1	0	0
CCDC22	28952	broad.mit.edu	37	X	49106025	49106025	+	Missense_Mutation	SNP	A	A	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chrX:49106025A>T	ENST00000376227.3	+	15	1861	c.1691A>T	c.(1690-1692)cAc>cTc	p.H564L		NM_014008.3	NP_054727.1	O60826	CCD22_HUMAN	coiled-coil domain containing 22	564										NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	18						GCTGCTCTGCACGAGGTGAGG	0.597000													10	11					0	0	1	0	0
KMT2A	4297	broad.mit.edu	37	11	118363895	118363895	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr11:118363895G>A	ENST00000534358.1	+	16	5151	c.5128G>A	c.(5128-5130)Gat>Aat	p.D1710N	KMT2A_ENST00000354520.4_Missense_Mutation_p.D1669N|KMT2A_ENST00000389506.5_Missense_Mutation_p.D1707N	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		GCAGCCTTTAGATCTAGAAGG	0.478000													16	96					0	0	1	0	0
PLA2G4D	283748	broad.mit.edu	37	15	42364006	42364006	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr15:42364006C>A	ENST00000290472.3	-	15	1633	c.1539G>T	c.(1537-1539)agG>agT	p.R513S		NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD (cytosolic)	513	PLA2c.				phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		CCGGGATCCTCCTCATCAGCC	0.617000													14	34					9.05144e-12	9.82459e-12	1	1	0
ATF7	11016	broad.mit.edu	37	12	53918472	53918472	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:53918472C>T	ENST00000420353.2	-	10	1150	c.1001G>A	c.(1000-1002)cGa>cAa	p.R334Q	RP11-793H13.10_ENST00000591834.1_Missense_Mutation_p.R334Q|ATF7_ENST00000328463.7_Missense_Mutation_p.R345Q|ATF7_ENST00000415113.1_Missense_Mutation_p.R313Q|ATF7_ENST00000548446.2_Missense_Mutation_p.R345Q|ATF7_ENST00000456903.4_Missense_Mutation_p.R334Q|ATF7_ENST00000546661.1_5'UTR	NM_006856.2	NP_006847.1	P17544	ATF7_HUMAN	activating transcription factor 7	345					interspecies interaction between organisms	cytoplasm|nuclear periphery|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9						GCGCTGCCGTCGCTCATCTGG	0.622000													8	23					0	0	1	0	0
CDH7	1005	broad.mit.edu	37	18	63526160	63526160	+	Splice_Site	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr18:63526160G>C	ENST00000536984.2	+	9	2066		c.e9-1		CDH7_ENST00000323011.3_Splice_Site|CDH7_ENST00000397968.2_Splice_Site			Q9ULB5	CADH7_HUMAN	cadherin 7, type 2						adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				TTATTTATTAGAGAATCCATC	0.373000													13	20					0	0	1	0	0
CCDC144NL	339184	broad.mit.edu	37	17	20796765	20796765	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:20796765G>C	ENST00000327925.5	-	2	474	c.355C>G	c.(355-357)Cta>Gta	p.L119V	RP11-344E13.3_ENST00000583962.1_RNA|RP11-344E13.3_ENST00000577537.1_RNA|RP11-344E13.3_ENST00000417232.2_RNA|RP11-344E13.3_ENST00000582324.1_RNA|RP11-344E13.3_ENST00000439794.2_RNA|RP11-344E13.3_ENST00000577860.1_RNA	NM_001004306.1	NP_001004306.1	Q6NUI1	C144L_HUMAN	coiled-coil domain containing 144 family, N-terminal like	119										large_intestine(3)|lung(3)|skin(1)	7						TCAGGAACTAGTTGCTGAATG	0.279000													33	30					0	0	1	0	0
WDYHV1	55093	broad.mit.edu	37	8	124453558	124453558	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr8:124453558A>G	ENST00000523984.1	+	6	569	c.341A>G	c.(340-342)aAc>aGc	p.N114S	WDYHV1_ENST00000287387.2_Missense_Mutation_p.N174S|WDYHV1_ENST00000523356.1_3'UTR|WDYHV1_ENST00000517609.1_3'UTR|WDYHV1_ENST00000518125.1_Missense_Mutation_p.N26S	NM_001283024.1	NP_001269953.1	Q96HA8	NTAQ1_HUMAN	WDYHV motif containing 1	174					protein modification process	cytosol|nucleus	protein binding|protein N-terminal glutamine amidohydrolase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(3)	17						TCCAAAATGAACCTGAACGAT	0.368000													120	47					0	0	1	0	0
MIR3654	100500804	broad.mit.edu	37	11	62348892	62348892	+	Silent	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr11:62348892G>C	ENST00000496634.2	-	3	600	c.555C>G	c.(553-555)gcC>gcG	p.A185A	TUT1_ENST00000308436.7_Silent_p.A223A|TUT1_ENST00000476907.1_Silent_p.A185A																NS(1)	1						CCTGCATCAGGGCCACCACTA	0.587000													6	23					0	0	1	0	0
ABCD3	5825	broad.mit.edu	37	1	94941201	94941201	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:94941201G>C	ENST00000370214.4	+	7	559	c.535G>C	c.(535-537)Gac>Cac	p.D179H	ABCD3_ENST00000454898.2_Missense_Mutation_p.D203H|ABCD3_ENST00000315713.5_Missense_Mutation_p.D179H|ABCD3_ENST00000394233.2_Missense_Mutation_p.D179H|ABCD3_ENST00000536817.1_Missense_Mutation_p.D106H	NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D (ALD), member 3	179	ABC transmembrane type-1.|Interaction with PEX19.				peroxisomal long-chain fatty acid import|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		GGGGAATCTGGACAACAGAAT	0.303000													16	22					0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18045033	18045033	+	Silent	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:18045033G>C	ENST00000205890.5	+	23	5936	c.5598G>C	c.(5596-5598)ctG>ctC	p.L1866L	MYO15A_ENST00000412324.1_3'UTR	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1866	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TGTCAGTGCTGAGTCGCCTGT	0.582000											OREG0024223	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	32	28					0	0	1	0	0
CRIM1	51232	broad.mit.edu	37	2	36583615	36583615	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:36583615C>T	ENST00000280527.2	+	1	547	c.180C>T	c.(178-180)tgC>tgT	p.C60C		NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	60	IGFBP N-terminal.				nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				AGGGCGTCTGCGGCTGCTGCT	0.697000													5	44					0	0	1	0	0
TSPAN17	26262	broad.mit.edu	37	5	176079893	176079893	+	Silent	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr5:176079893C>G	ENST00000298564.10	+	2	386	c.237C>G	c.(235-237)ctC>ctG	p.L79L	TSPAN17_ENST00000310032.8_Silent_p.L145L|TSPAN17_ENST00000515708.1_Silent_p.L145L|TSPAN17_ENST00000508164.1_Silent_p.L145L|TSPAN17_ENST00000405525.2_Silent_p.L145L|TSPAN17_ENST00000503045.1_Silent_p.L122L			Q96FV3	TSN17_HUMAN	tetraspanin 17	145						integral to membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	13	all_cancers(89;0.00141)|Renal(175;0.000269)|Lung NSC(126;0.00814)|all_lung(126;0.0133)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCCAGAACCTCATTGACTTTG	0.537000													4	80					0	0	1	0	0
FRMD4A	55691	broad.mit.edu	37	10	13698952	13698952	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr10:13698952G>C	ENST00000357447.2	-	22	3005	c.2637C>G	c.(2635-2637)ttC>ttG	p.F879L	FRMD4A_ENST00000378503.1_Missense_Mutation_p.F879L|FRMD4A_ENST00000358621.4_Missense_Mutation_p.F864L	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	879						cytoplasm|cytoskeleton	binding			breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						AGCTCTCCTTGAACAGGCCGC	0.716000													8	14					0	0	1	0	0
CSF3R	1441	broad.mit.edu	37	1	36932897	36932897	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:36932897G>T	ENST00000338937.5	-	13	1879	c.1880C>A	c.(1879-1881)tCt>tAt	p.S627Y	CSF3R_ENST00000418048.2_Silent_p.L658L|CSF3R_ENST00000373103.1_Silent_p.L658L|CSF3R_ENST00000487540.2_5'UTR|CSF3R_ENST00000331941.5_Silent_p.L658L|CSF3R_ENST00000361632.4_Silent_p.L658L|CSF3R_ENST00000373104.1_Silent_p.L658L|CSF3R_ENST00000373106.1_Silent_p.L658L|CSF3R_ENST00000440588.2_Silent_p.L658L			Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	0					cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	CACTTGGCCAGAGGGGATTCT	0.587000													38	35					2.47872e-24	2.78923e-24	1	1	0
HSPA14	51182	broad.mit.edu	37	10	14909867	14909867	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr10:14909867G>C	ENST00000378372.3	+	12	1578	c.1339G>C	c.(1339-1341)Gat>Cat	p.D447H		NM_016299.2	NP_057383.2	Q0VDF9	HSP7E_HUMAN	heat shock 70kDa protein 14	447					'de novo' cotranslational protein folding	cytosol	ATP binding|protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	17						CTATGAGTCTGATGGGAAGAA	0.433000													22	103					0	0	1	0	0
PCDH17	27253	broad.mit.edu	37	13	58207298	58207298	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr13:58207298G>A	ENST00000377918.3	+	1	644	c.618G>A	c.(616-618)caG>caA	p.Q206Q		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	206	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GCGAGCAACAGAATCACCATA	0.592000													14	21					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9083460	9083460	+	Silent	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:9083460C>G	ENST00000397910.4	-	1	8558	c.8355G>C	c.(8353-8355)gtG>gtC	p.V2785V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2785	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						TTAGTGGCATCACAGATGCCC	0.502000													8	40					0	0	1	0	0
BEND3	57673	broad.mit.edu	37	6	107391788	107391788	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr6:107391788G>C	ENST00000429433.2	-	5	1256	c.607C>G	c.(607-609)Ctg>Gtg	p.L203V	BEND3_ENST00000369042.1_Missense_Mutation_p.L203V	NM_001080450.2	NP_001073919.1	Q5T5X7	BEND3_HUMAN	BEN domain containing 3	203										central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						AGGGTGTTCAGCATGTAGAAC	0.572000													4	27					0	0	1	0	0
MATN4	8785	broad.mit.edu	37	20	43933045	43933045	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr20:43933045C>T	ENST00000537548.1	-	4	710	c.466G>A	c.(466-468)Gag>Aag	p.E156K	MATN4_ENST00000353917.5_Missense_Mutation_p.E156K|MATN4_ENST00000360607.6_Missense_Mutation_p.E156K|MATN4_ENST00000372751.4_Intron|MATN4_ENST00000342716.4_Missense_Mutation_p.E156K|MATN4_ENST00000372756.1_Missense_Mutation_p.E156K|MATN4_ENST00000372754.1_Missense_Mutation_p.E156K			O95460	MATN4_HUMAN	matrilin 4	156	VWFA 1.					extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				GCCGCCACCTCGGCCACGCGG	0.746000													4	20					0	0	1	0	0
UBR5	51366	broad.mit.edu	37	8	103298599	103298599	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr8:103298599G>C	ENST00000520539.1	-	38	5810	c.5204C>G	c.(5203-5205)tCt>tGt	p.S1735C	UBR5_ENST00000521922.1_Missense_Mutation_p.S1729C|UBR5_ENST00000220959.4_Missense_Mutation_p.S1735C	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	1735					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TGCTGGTGTAGATGTACTGGA	0.453000													5	61					0	0	1	0	0
LY9	4063	broad.mit.edu	37	1	160794037	160794037	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:160794037C>G	ENST00000368037.5	+	9	1969	c.1855C>G	c.(1855-1857)Cag>Gag	p.Q619E	LY9_ENST00000392203.4_Missense_Mutation_p.Q543E|LY9_ENST00000263285.6_Missense_Mutation_p.Q633E|LY9_ENST00000368041.2_Missense_Mutation_p.Q503E|LY9_ENST00000341032.4_Missense_Mutation_p.Q499E|LY9_ENST00000368040.1_Intron	NM_001261456.1|NM_002348.3	NP_001248385.1|NP_002339.2	Q9HBG7	LY9_HUMAN	lymphocyte antigen 9						cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			ACGGAAACCTCAGGTGGTGAG	0.488000													22	101					0	0	1	0	0
CDAN1	146059	broad.mit.edu	37	15	43018340	43018340	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr15:43018340C>A	ENST00000356231.3	-	25	3246	c.3223G>T	c.(3223-3225)Gag>Tag	p.E1075*		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	1075						integral to membrane	protein binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		AGATGCTGCTCAGCAGGTGGG	0.562000													8	31					1.12685e-05	1.16834e-05	1	1	0
TG	7038	broad.mit.edu	37	8	133879281	133879281	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr8:133879281C>T	ENST00000220616.4	+	1	76	c.36C>T	c.(34-36)gcC>gcT	p.A12A	TG_ENST00000377869.1_Silent_p.A12A	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	12					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CCCTGCTGGCCTCCATCTGCT	0.632000													3	8					0	0	1	0	0
MRPL45P2	653479	broad.mit.edu	37	17	45560450	45560450	+	RNA	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:45560450C>T	ENST00000575291.1	-	0	513																											CTTTTATCCTCCGGATTCTGT	0.358000													24	55					0	0	1	0	0
TXK	7294	broad.mit.edu	37	4	48078458	48078458	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr4:48078458G>A	ENST00000264316.4	-	12	1284	c.1199C>T	c.(1198-1200)tCa>tTa	p.S400L	TXK_ENST00000507351.1_Missense_Mutation_p.S55L	NM_003328.2	NP_003319.2	P42681	TXK_HUMAN	TXK tyrosine kinase	400	Protein kinase.					cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						TATGCATGTTGAACTGACCAA	0.323000													16	38					0	0	1	0	0
PDZD2	23037	broad.mit.edu	37	5	32074700	32074700	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr5:32074700C>T	ENST00000438447.1	+	18	3876	c.3488C>T	c.(3487-3489)tCt>tTt	p.S1163F	PDZD2_ENST00000282493.3_Missense_Mutation_p.S1163F			O15018	PDZD2_HUMAN	PDZ domain containing 2	1163					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CAGGCCACTTCTGTCAAAGTG	0.522000													41	23					0	0	1	0	0
HELB	92797	broad.mit.edu	37	12	66698778	66698778	+	Nonsense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:66698778C>G	ENST00000247815.4	+	2	514	c.455C>G	c.(454-456)tCa>tGa	p.S152*		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	152					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		AAGGAGGTATCAAACTACAAA	0.358000													22	48					0	0	1	0	0
SLA	6503	broad.mit.edu	37	8	134057253	134057253	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr8:134057253C>G	ENST00000338087.5	-	7	1279	c.460G>C	c.(460-462)Gag>Cag	p.E154Q	TG_ENST00000377869.1_Intron|TG_ENST00000519543.1_Intron|TG_ENST00000542445.1_Intron|SLA_ENST00000524345.1_Missense_Mutation_p.E46Q|SLA_ENST00000395352.3_Missense_Mutation_p.E171Q|SLA_ENST00000427060.2_Missense_Mutation_p.E194Q|TG_ENST00000220616.4_Intron|SLA_ENST00000517648.1_Intron	NM_001045556.2	NP_001039021.1	Q13239	SLAP1_HUMAN	Src-like-adaptor	154	SH2.					endosome	SH3/SH2 adaptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(6)|prostate(1)|skin(1)	17	all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037)	BRCA - Breast invasive adenocarcinoma(115;0.000701)			ACCAGGTCCTCCAGGCACTGG	0.517000													8	92					0	0	1	0	0
LUZP2	338645	broad.mit.edu	37	11	24998163	24998163	+	Missense_Mutation	SNP	A	A	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr11:24998163A>T	ENST00000533227.1	+	8	578	c.291A>T	c.(289-291)caA>caT	p.Q97H	LUZP2_ENST00000336930.6_Missense_Mutation_p.Q183H	NM_001009909.3|NM_001252008.1	NP_001009909.2|NP_001238937.1	Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	183						extracellular region				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						ATCTGGAACAAAAATTAGCTG	0.343000													9	35					0	0	1	0	0
RNF103	7844	broad.mit.edu	37	2	86832071	86832071	+	Nonsense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:86832071G>C	ENST00000237455.4	-	4	1921	c.953C>G	c.(952-954)tCa>tGa	p.S318*	CHMP3_ENST00000439940.2_Intron|AC015971.2_ENST00000597638.1_RNA|RNF103-CHMP3_ENST00000604011.1_Intron|RNF103_ENST00000477307.1_5'UTR|AC015971.2_ENST00000424788.1_RNA|AC015971.2_ENST00000426549.1_RNA|AC015971.2_ENST00000439077.1_RNA	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN	ring finger protein 103	318					central nervous system development|ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						GGGTTGTAATGAGCGCAAAAA	0.388000													21	122					0	0	1	0	0
ZFC3H1	196441	broad.mit.edu	37	12	72017272	72017272	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:72017272G>C	ENST00000378743.3	-	24	4970	c.4612C>G	c.(4612-4614)Ctc>Gtc	p.L1538V		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	1538					RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TTTGAAGGGAGAATGTTGAAT	0.343000													7	119					0	0	1	0	0
CTNNBL1	56259	broad.mit.edu	37	20	36431427	36431427	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr20:36431427G>A	ENST00000405275.2	+	12	1352	c.1109G>A	c.(1108-1110)gGa>gAa	p.G370E	CTNNBL1_ENST00000373469.1_Missense_Mutation_p.G145E|CTNNBL1_ENST00000473857.1_3'UTR|CTNNBL1_ENST00000373473.1_Missense_Mutation_p.G210E|CTNNBL1_ENST00000361383.6_Missense_Mutation_p.G397E	NM_001281495.1	NP_001268424.1	Q8WYA6	CTBL1_HUMAN	catenin, beta like 1	397					apoptosis|positive regulation of apoptosis|somatic diversification of immunoglobulins	nucleus	enzyme binding			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(6)|lung(6)|ovary(3)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				AAGAAAGTGGGAACCACTGAG	0.428000													10	26					0	0	1	0	0
ODF2	4957	broad.mit.edu	37	9	131256844	131256844	+	Missense_Mutation	SNP	T	T	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr9:131256844T>A	ENST00000434106.3	+	17	2171	c.1808T>A	c.(1807-1809)cTg>cAg	p.L603Q	ODF2_ENST00000372791.3_Missense_Mutation_p.L584Q|ODF2_ENST00000604420.1_Missense_Mutation_p.L603Q|ODF2_ENST00000448249.3_Missense_Mutation_p.L522Q|ODF2_ENST00000372814.3_Missense_Mutation_p.L647Q|ODF2_ENST00000393527.3_Missense_Mutation_p.L579Q|ODF2_ENST00000351030.3_Missense_Mutation_p.L598Q|ODF2_ENST00000546203.1_Missense_Mutation_p.L584Q|ODF2_ENST00000372807.5_Missense_Mutation_p.L598Q|ODF2_ENST00000393533.2_Missense_Mutation_p.L603Q|ODF2_ENST00000444119.2_Missense_Mutation_p.L579Q	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2						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.L579P(1)|p.L603P(1)|p.L647P(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						CCTGACATCCTGAAGATCACG	0.562000													10	21					0	0	1	0	0
CHN2	1124	broad.mit.edu	37	7	29519859	29519859	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr7:29519859C>G	ENST00000409041.4	+	1	374	c.133C>G	c.(133-135)Ctt>Gtt	p.L45V	CHN2_ENST00000546235.1_Intron|CHN2_ENST00000222792.6_Intron|CHN2_ENST00000424025.2_Intron|CHN2_ENST00000495789.2_Intron|CHN2_ENST00000539389.1_Intron|CHN2_ENST00000435288.2_Intron|CHN2_ENST00000539406.1_Intron|CHN2_ENST00000439711.2_Missense_Mutation_p.L45V|CHN2_ENST00000421775.2_Missense_Mutation_p.L45V	NM_001039936.1	NP_001035025.1	P52757	CHIO_HUMAN	chimerin 2	394					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|membrane	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						AGGCGGCTTTCTTTGGCCCCC	0.537000													9	29					0	0	1	0	0
TBC1D12	23232	broad.mit.edu	37	10	96162370	96162370	+	Translation_Start_Site	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr10:96162370G>A	ENST00000225235.4	+	0	110					NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN	TBC1 domain family, member 12							intracellular	Rab GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				CCCACCCCCAGATGGTGGGTC	0.697000													15	0					0	0	1	0	0
TENM1	10178	broad.mit.edu	37	X	123680941	123680941	+	Splice_Site	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chrX:123680941C>G	ENST00000422452.2	-	15	2498		c.e15-1		TENM1_ENST00000371130.3_Splice_Site	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		GTTAAACCATCTGGAAATAAA	0.348000													37	3					0	0	1	0	0
PRKAB2	5565	broad.mit.edu	37	1	146639438	146639438	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:146639438C>T	ENST00000254101.3	-	3	369	c.231G>A	c.(229-231)cgG>cgA	p.R77R	PRKAB2_ENST00000425272.2_Intron	NM_005399.3	NP_005390.1	O43741	AAKB2_HUMAN	protein kinase, AMP-activated, beta 2 non-catalytic subunit	77					carnitine shuttle|cell cycle arrest|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm		p.R77R(1)		NS(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11	all_hematologic(923;0.0487)				Adenosine monophosphate(DB00131)	TAACAGTGGGCCGGGCCTGCT	0.522000													90	161					0	0	1	0	0
OR2A14	135941	broad.mit.edu	37	7	143826871	143826871	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr7:143826871C>T	ENST00000408899.2	+	1	721	c.666C>T	c.(664-666)gcC>gcT	p.A222A		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	222					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A222A(1)		large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					GCATCCTGGCCGCCATCTTGA	0.612000													114	124					0	0	1	0	0
LEO1	123169	broad.mit.edu	37	15	52242065	52242065	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr15:52242065C>T	ENST00000299601.5	-	10	1798	c.1738G>A	c.(1738-1740)Gaa>Aaa	p.E580K	LEO1_ENST00000315141.5_Missense_Mutation_p.E520K	NM_138792.2	NP_620147.1	Q8WVC0	LEO1_HUMAN	Leo1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	580					histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	14				all cancers(107;0.00264)		TCCTCGCCTTCCTCCTCCTCA	0.512000													27	58					0	0	1	0	0
RPS6KA6	27330	broad.mit.edu	37	X	83375020	83375020	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chrX:83375020T>C	ENST00000262752.2	-	9	669	c.662A>G	c.(661-663)aAg>aGg	p.K221R	RPS6KA6_ENST00000543399.1_Missense_Mutation_p.K221R	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	221	Protein kinase 1.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						TACTGACTCCTTGCTGAGTCC	0.343000													50	10					0	0	1	0	0
DIO2	1734	broad.mit.edu	37	14	80677657	80677657	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr14:80677657G>A	ENST00000557010.1	-	3	544	c.159C>T	c.(157-159)cgC>cgT	p.R53R	DIO2_ENST00000555750.1_Silent_p.R53R|DIO2_ENST00000422005.3_Silent_p.R53R|DIO2_ENST00000557125.1_Intron|DIO2_ENST00000438257.4_Silent_p.R53R	NM_000793.5|NM_001242502.1|NM_001242503.1	NP_000784.2|NP_001229431.1|NP_001229432.1	Q92813	IOD2_HUMAN	deiodinase, iodothyronine, type II	53					hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation	integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.0281)		AGGTCAGCATGCGCCGCCACT	0.592000													16	16					0	0	1	0	0
ABCA4	24	broad.mit.edu	37	1	94473258	94473258	+	Silent	SNP	T	T	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:94473258T>G	ENST00000370225.3	-	43	6023	c.5937A>C	c.(5935-5937)acA>acC	p.T1979T	ABCA4_ENST00000536513.1_Silent_p.T249T|ABCA4_ENST00000535881.1_Silent_p.T98T|ABCA4_ENST00000465352.1_5'UTR	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1979	ABC transporter 2.				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TGAATGTGGTTGTTTTGCCGG	0.547000													20	44					0	0	1	0	0
AMPD2	271	broad.mit.edu	37	1	110169425	110169425	+	Silent	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:110169425G>C	ENST00000256578.3	+	6	1131	c.771G>C	c.(769-771)ctG>ctC	p.L257L	AMPD2_ENST00000358729.4_Silent_p.L182L|AMPD2_ENST00000526301.1_3'UTR|AMPD2_ENST00000528667.1_Silent_p.L257L|AMPD2_ENST00000342115.4_Silent_p.L176L|AMPD2_ENST00000528454.1_Silent_p.L139L|AMPD2_ENST00000393688.3_Silent_p.L138L	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2	257					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		ACATGGCCCTGTCCCTGCAGA	0.622000													10	46					0	0	1	0	0
RPS6KA2	6196	broad.mit.edu	37	6	166923801	166923801	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr6:166923801C>T	ENST00000510118.1	-	6	758	c.418G>A	c.(418-420)Gaa>Aaa	p.E140K	RPS6KA2_ENST00000405189.3_Missense_Mutation_p.E26K|RPS6KA2_ENST00000481261.2_Missense_Mutation_p.E26K|RPS6KA2_ENST00000503859.1_Missense_Mutation_p.E123K|RPS6KA2_ENST00000366863.2_5'UTR|RPS6KA2_ENST00000265678.4_Missense_Mutation_p.E115K			Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	115	Protein kinase 1.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		TGATTCACTTCTGCCAAGATG	0.423000													16	26					0	0	1	0	0
HEG1	57493	broad.mit.edu	37	3	124748209	124748209	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:124748209G>A	ENST00000311127.4	-	2	507	c.440C>T	c.(439-441)tCt>tTt	p.S147F		NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	147						extracellular region|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						GCTCTTCCCAGAGGTCTGAAC	0.483000													20	45					0	0	1	0	0
SPTY2D1	144108	broad.mit.edu	37	11	18637593	18637593	+	Silent	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr11:18637593G>C	ENST00000336349.5	-	3	463	c.228C>G	c.(226-228)ctC>ctG	p.L76L	SPTY2D1_ENST00000543776.1_5'UTR	NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)	76										breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						TGTCATGTTTGAGCTCAATTC	0.388000													33	38					0	0	1	0	0
OR13C3	138803	broad.mit.edu	37	9	107298330	107298330	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr9:107298330G>C	ENST00000374781.2	-	1	807	c.765C>G	c.(763-765)atC>atG	p.I255M		NM_001001961.1	NP_001001961.1	Q8NGS6	O13C3_HUMAN	olfactory receptor, family 13, subfamily C, member 3	255					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						TCATTTGCAAGATGGTGTAGA	0.413000													57	9					0	0	1	0	0
PEG10	23089	broad.mit.edu	37	7	94293033	94293033	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr7:94293033G>A	ENST00000482108.1	+	2	644	c.165G>A	c.(163-165)gaG>gaA	p.E55E	PEG10_ENST00000488574.1_Silent_p.E55E	NM_001040152.1|NM_001172438.1|NM_001184962.1	NP_001035242.1|NP_001165909.1|NP_001171891.1	Q86TG7	PEG10_HUMAN	paternally expressed 10	55					apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1)	21	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			CTGAGGATGAGGATGATGACA	0.587000													3	20					0	0	1	0	0
HBQ1	3049	broad.mit.edu	37	16	230775	230775	+	Missense_Mutation	SNP	T	T	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr16:230775T>A	ENST00000199708.2	+	2	240	c.206T>A	c.(205-207)cTc>cAc	p.L69H		NM_005331.4	NP_005322.1	P09105	HBAT_HUMAN	hemoglobin, theta 1	69						hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			large_intestine(1)	1		all_cancers(16;2.03e-06)|all_epithelial(16;5.16e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0138)|all_lung(18;0.0306)				GCGCTGAGCCTCGCCGTGGAG	0.697000													3	12					0	0	1	0	0
PLA2G1B	5319	broad.mit.edu	37	12	120759997	120759997	+	Nonstop_Mutation	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:120759997C>A	ENST00000308366.4	-	4	481	c.446G>T	c.(445-447)tGa>tTa	p.*149L	PLA2G1B_ENST00000423423.3_3'UTR|PLA2G1B_ENST00000549767.1_Nonstop_Mutation_p.*120L	NM_000928.2	NP_000919.1	P04054	PA21B_HUMAN	phospholipase A2, group IB (pancreas)	0					actin filament organization|activation of MAPK activity|activation of phospholipase A2 activity|arachidonic acid secretion|cellular response to insulin stimulus|glucose transport|interleukin-8 production|leukotriene biosynthetic process|multicellular organismal lipid catabolic process|neutrophil chemotaxis|neutrophil mediated immunity|phosphatidylcholine metabolic process|positive regulation of calcium ion transport into cytosol|positive regulation of DNA replication|positive regulation of immune response|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein secretion|positive regulation of transcription from RNA polymerase II promoter	extracellular space	bile acid binding|calcium ion binding|calcium-dependent phospholipase A2 activity|cell surface binding|receptor binding			endometrium(1)|large_intestine(1)|lung(3)|skin(2)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGGTGATATTCAACTCTGACA	0.423000													62	181					7.82978e-24	8.80111e-24	1	1	0
TEX10	54881	broad.mit.edu	37	9	103090142	103090142	+	Silent	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr9:103090142G>T	ENST00000374902.4	-	8	1904	c.1728C>A	c.(1726-1728)atC>atA	p.I576I	TEX10_ENST00000535814.1_Silent_p.I579I	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN	testis expressed 10	576						integral to membrane|MLL1 complex|nuclear membrane|nucleolus	binding			NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		CGGTATGAATGATATCGATAA	0.418000													26	8					3.01185e-09	3.20239e-09	1	1	0
NFKBIE	4794	broad.mit.edu	37	6	44232769	44232769	+	Silent	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr6:44232769C>G	ENST00000275015.5	-	1	731	c.732G>C	c.(730-732)ctG>ctC	p.L244L		NM_004556.2	NP_004547.2	O00221	IKBE_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, epsilon	244					cytoplasmic sequestering of transcription factor		protein binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|urinary_tract(1)	10	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GCTGAGGGCTCAGCGCCCCCA	0.662000													3	2					0	0	1	0	0
BRE	9577	broad.mit.edu	37	2	28248194	28248194	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:28248194G>A	ENST00000344773.2	+	5	540	c.402G>A	c.(400-402)gaG>gaA	p.E134E	BRE_ENST00000603461.1_3'UTR|BRE_ENST00000361704.2_Silent_p.E134E|BRE_ENST00000342045.2_Silent_p.E134E|BRE_ENST00000379624.1_Silent_p.E134E|BRE_ENST00000379632.2_Silent_p.E134E	NM_004899.4	NP_004890.2	Q9NXR7	BRE_HUMAN	brain and reproductive organ-expressed (TNFRSF1A modulator)	134	UEV-like 1.				apoptosis|chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of anti-apoptosis|positive regulation of DNA repair|response to ionizing radiation|signal transduction	BRCA1-A complex|BRISC complex|cytoplasm|nuclear ubiquitin ligase complex	peroxisome targeting sequence binding|polyubiquitin binding|tumor necrosis factor receptor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2)	23	Acute lymphoblastic leukemia(172;0.155)					GCCTCCGGGAGAGCTCCCGCC	0.453000													90	42					0	0	1	0	0
APLP2	334	broad.mit.edu	37	11	129999042	129999042	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr11:129999042G>A	ENST00000263574.5	+	10	1468	c.1396G>A	c.(1396-1398)Gac>Aac	p.D466N	APLP2_ENST00000528499.1_Missense_Mutation_p.D410N|APLP2_ENST00000338167.5_Missense_Mutation_p.D466N|APLP2_ENST00000539648.1_Missense_Mutation_p.D254N|APLP2_ENST00000278756.7_Missense_Mutation_p.D476N|APLP2_ENST00000345598.5_Missense_Mutation_p.D237N|APLP2_ENST00000543137.1_Missense_Mutation_p.D373N	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	466					G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		TATGCTGAATGACCGCCGTCG	0.592000													42	26					0	0	1	0	0
EPC2	26122	broad.mit.edu	37	2	149528807	149528807	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:149528807G>A	ENST00000258484.6	+	10	1605	c.1571G>A	c.(1570-1572)cGa>cAa	p.R524Q		NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN	enhancer of polycomb homolog 2 (Drosophila)	524					chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		AGATCATGTCGACTACAGTGT	0.368000													72	41					0	0	1	0	0
AMER2	219287	broad.mit.edu	37	13	25745097	25745097	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr13:25745097C>T	ENST00000357816.2	-	2	1136	c.661G>A	c.(661-663)Ggg>Agg	p.G221R	AMER2_ENST00000381853.3_Missense_Mutation_p.G221R|AMER2_ENST00000515384.1_Missense_Mutation_p.G221R					APC membrane recruitment protein 2																		AAgccgcccccgggcgcgcgc	0.731000													7	1					0	0	1	0	0
PHKB	5257	broad.mit.edu	37	16	47733202	47733202	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr16:47733202G>C	ENST00000455779.1	+	32	3371	c.3186G>C	c.(3184-3186)ttG>ttC	p.L1062F	PHKB_ENST00000566044.1_Missense_Mutation_p.L1062F|PHKB_ENST00000323584.5_Missense_Mutation_p.L1069F|PHKB_ENST00000299167.8_Missense_Mutation_p.L1069F			Q93100	KPBB_HUMAN	phosphorylase kinase, beta	1069					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				GCAGCTATTTGACAAAGGCGG	0.463000													26	90					0	0	1	0	0
RBPJ	3516	broad.mit.edu	37	4	26417162	26417162	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr4:26417162T>C	ENST00000342320.4	+	4	394	c.218T>C	c.(217-219)aTg>aCg	p.M73T	RBPJ_ENST00000504907.1_Missense_Mutation_p.M73T|RBPJ_ENST00000507561.1_Missense_Mutation_p.M52T|RBPJ_ENST00000342295.1_Missense_Mutation_p.M87T|RBPJ_ENST00000348160.4_Missense_Mutation_p.M74T|RBPJ_ENST00000345843.3_Missense_Mutation_p.M72T|RBPJ_ENST00000361572.6_Missense_Mutation_p.M87T|RBPJ_ENST00000355476.3_Missense_Mutation_p.M73T|RBPJ_ENST00000511401.1_3'UTR			Q06330	SUH_HUMAN	recombination signal binding protein for immunoglobulin kappa J region	87					DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target	cytoplasm|nucleolus|nucleoplasm	DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15		Breast(46;0.0503)				AAAGAACAAATGGAACGCGAT	0.388000													37	94					0	0	1	0	0
CGNL1	84952	broad.mit.edu	37	15	57730472	57730472	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr15:57730472C>G	ENST00000281282.5	+	2	353	c.275C>G	c.(274-276)tCt>tGt	p.S92C		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	92	Head.					myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		AGCAATGGTTCTGTGCCAAAG	0.502000													11	44					0	0	1	0	0
F13B	2165	broad.mit.edu	37	1	197019986	197019986	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:197019986G>A	ENST00000367412.1	-	10	1622	c.1579C>T	c.(1579-1581)Cct>Tct	p.P527S		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	527	Sushi 9.				blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						ATAAGAGGAGGAGATGTGCAC	0.333000													16	21					0	0	1	0	0
RANBP2	5903	broad.mit.edu	37	2	109388219	109388219	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:109388219C>T	ENST00000283195.6	+	21	8038	c.7912C>T	c.(7912-7914)Cta>Tta	p.L2638L		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2638	2 X 50 AA approximate repeats.|Interaction with UBE2I.|Required for E3 SUMO-ligase activity.				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		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						TGTATATGAACTAACTCCAAC	0.373000													32	191					0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23930039	23930039	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr13:23930039T>C	ENST00000382298.3	-	8	1300	c.712A>G	c.(712-714)Aaa>Gaa	p.K238E	SACS_ENST00000402364.1_5'UTR|SACS_ENST00000382292.3_Missense_Mutation_p.K238E	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	238					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CTAATTTCTTTGCTGTCATCT	0.388000													63	3					0	0	1	0	0
NETO1	81832	broad.mit.edu	37	18	70532056	70532056	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr18:70532056G>C	ENST00000327305.6	-	3	864	c.207C>G	c.(205-207)atC>atG	p.I69M	NETO1_ENST00000299430.2_Missense_Mutation_p.I68M|NETO1_ENST00000397929.1_Missense_Mutation_p.I68M|NETO1_ENST00000583169.1_Missense_Mutation_p.I69M|NETO1_ENST00000580049.1_5'UTR	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	69	CUB 1.				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		CTATGATGTAGATGCATTCCC	0.473000													17	36					0	0	1	0	0
DOCK9	23348	broad.mit.edu	37	13	99537285	99537285	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr13:99537285G>A	ENST00000376460.1	-	21	2402	c.2322C>T	c.(2320-2322)atC>atT	p.I774I	DOCK9_ENST00000442173.1_Silent_p.I774I|DOCK9_ENST00000448493.2_Silent_p.I786I|DOCK9_ENST00000339416.2_Silent_p.I775I	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	775	DHR-1.				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CCGAGACCGGGATGTGCTGCT	0.512000													10	9					0	0	1	0	0
HLA-C	3107	broad.mit.edu	37	6	31237268	31237268	+	Splice_Site	SNP	A	A	C	rs1130863		TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr6:31237268A>C	ENST00000383329.3	-	6	1081		c.e6+1		HLA-C_ENST00000376228.5_Splice_Site			Q9TNN7	1C05_HUMAN	major histocompatibility complex, class I, C						antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						GCCATCACTTACACGCAGCCT	0.557000													5	14					0	0	1	0	0
LOX	4015	broad.mit.edu	37	5	121413262	121413262	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr5:121413262G>A	ENST00000231004.4	-	1	718	c.419C>T	c.(418-420)tCg>tTg	p.S140L		NM_001178102.1|NM_002317.5	NP_001171573.1|NP_002308.2	P28300	LYOX_HUMAN	lysyl oxidase	140					protein modification process	extracellular space	copper ion binding|protein-lysine 6-oxidase activity			endometrium(1)|lung(6)|prostate(1)	8		all_cancers(142;0.0124)|Prostate(80;0.0322)|Ovarian(225;0.0814)|Breast(839;0.143)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;2.14e-11)|OV - Ovarian serous cystadenocarcinoma(64;7.87e-10)|all cancers(49;2.49e-09)|COAD - Colon adenocarcinoma(49;0.02)		CTCCGCGCGCGAGGCGCCAGC	0.692000													14	3					0	0	1	0	0
CDH6	1004	broad.mit.edu	37	5	31317550	31317550	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr5:31317550G>C	ENST00000265071.2	+	10	1846	c.1581G>C	c.(1579-1581)ttG>ttC	p.L527F	CDH6_ENST00000514738.1_Missense_Mutation_p.L472F	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	527	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CGTTTTCCTTGGCCCCTGAAG	0.413000													29	114					0	0	1	0	0
ERAP2	64167	broad.mit.edu	37	5	96219518	96219518	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr5:96219518G>C	ENST00000437043.3	+	3	1309	c.598G>C	c.(598-600)Gag>Cag	p.E200Q	ERAP2_ENST00000379904.4_Missense_Mutation_p.E200Q|ERAP2_ENST00000510309.1_Missense_Mutation_p.E200Q|CTD-2260A17.2_ENST00000501338.1_Intron	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	200					antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		AACAGATTTTGAGCCAACCCA	0.433000													15	18					0	0	1	0	0
SMG7	9887	broad.mit.edu	37	1	183515224	183515224	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:183515224G>C	ENST00000367537.3	+	18	2638	c.2443G>C	c.(2443-2445)Gag>Cag	p.E815Q	SMG7_ENST00000456731.2_Missense_Mutation_p.E744Q|SMG7_ENST00000515829.2_Missense_Mutation_p.E786Q|SMG7_ENST00000508461.1_Missense_Mutation_p.E790Q|SMG7_ENST00000507469.1_Missense_Mutation_p.E786Q|SMG7_ENST00000347615.2_Missense_Mutation_p.E832Q			Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	832	Gln/Pro-rich.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						AAAACTGTTTGAGCCGTCATT	0.463000													16	55					0	0	1	0	0
SCN7A	6332	broad.mit.edu	37	2	167313506	167313506	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:167313506C>A	ENST00000409855.1	-	10	1290	c.1164G>T	c.(1162-1164)ttG>ttT	p.L388F		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	388					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						TGCCTAAGAACAAACTTGCCA	0.348000													3	21					0.115264	0.115264	1	1	0
DGKI	9162	broad.mit.edu	37	7	137271945	137271945	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr7:137271945G>C	ENST00000453654.2	-	13	962	c.423C>G	c.(421-423)atC>atG	p.I141M	DGKI_ENST00000288490.5_Missense_Mutation_p.I441M|DGKI_ENST00000446122.1_Missense_Mutation_p.I441M|DGKI_ENST00000424189.2_Missense_Mutation_p.I441M			O75912	DGKI_HUMAN	diacylglycerol kinase, iota						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						GGATGGAAAGGATCCAGCCCA	0.517000													35	27					0	0	1	0	0
C2orf16	84226	broad.mit.edu	37	2	27804354	27804354	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:27804354C>T	ENST00000408964.2	+	1	4966	c.4915C>T	c.(4915-4917)Cgc>Tgc	p.R1639C		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1639	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.									breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					GAGGAGCCATCGCGGTCCCTC	0.577000													50	297					0	0	1	0	0
IPO13	9670	broad.mit.edu	37	1	44422329	44422329	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:44422329G>T	ENST00000372343.3	+	4	1722	c.1060G>T	c.(1060-1062)Gag>Tag	p.E354*	IPO13_ENST00000492152.1_3'UTR	NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	354					protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				TCCTGTCAATGAGACCACCAG	0.547000													39	69					1.49673e-21	1.67518e-21	1	1	0
LRRTM1	347730	broad.mit.edu	37	2	80529574	80529574	+	Silent	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:80529574G>T	ENST00000295057.3	-	2	2027	c.1371C>A	c.(1369-1371)ctC>ctA	p.L457L	CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000402739.4_Intron|LRRTM1_ENST00000409148.1_Silent_p.L457L|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000361291.4_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	457						axon|endoplasmic reticulum membrane|growth cone|integral to membrane				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						TGAGCTGCCTGAGGCTGGCTG	0.557000										HNSCC(69;0.2)			12	80					4.36969e-10	4.6892e-10	1	1	0
TRAT1	50852	broad.mit.edu	37	3	108572606	108572606	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:108572606C>G	ENST00000295756.6	+	6	673	c.443C>G	c.(442-444)tCt>tGt	p.S148C	TRAT1_ENST00000426646.1_Missense_Mutation_p.S111C	NM_016388.2	NP_057472.2	Q6PIZ9	TRAT1_HUMAN	T cell receptor associated transmembrane adaptor 1	148			S -> P (in dbSNP:rs61585973).		cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						GCCAGCGTTTCTAAGACCACC	0.458000													39	74					0	0	1	0	0
M1AP	130951	broad.mit.edu	37	2	74787419	74787419	+	Splice_Site	SNP	C	C	G	rs77403431		TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:74787419C>G	ENST00000290536.5	-	9	1398		c.e9-1		M1AP_ENST00000358434.2_Splice_Site|M1AP_ENST00000536235.1_Splice_Site|M1AP_ENST00000409585.1_Splice_Site|M1AP_ENST00000464686.1_Splice_Site	NM_001281296.1|NM_138804.3	NP_001268225.1|NP_620159.2			meiosis 1 associated protein																		CCAGCATGCTCTGAGGAAAAG	0.547000													8	52					0	0	1	0	0
ZNF526	116115	broad.mit.edu	37	19	42728831	42728831	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:42728831G>A	ENST00000301215.3	+	3	501	c.276G>A	c.(274-276)caG>caA	p.Q92Q		NM_133444.1	NP_597701.1	Q8TF50	ZN526_HUMAN	zinc finger protein 526	92					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(3)	22		Prostate(69;0.0704)				TGACCACACAGAATGTTGGCC	0.617000													37	63					0	0	1	0	0
CRYZ	1429	broad.mit.edu	37	1	75188928	75188928	+	Silent	SNP	A	A	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:75188928A>T	ENST00000417775.1	-	4	642	c.138T>A	c.(136-138)ggT>ggA	p.G46G	CRYZ_ENST00000370871.3_Silent_p.G46G|CRYZ_ENST00000370872.3_5'UTR|CRYZ_ENST00000340866.5_Silent_p.G46G	NM_001130042.1	NP_001123514.1	Q08257	QOR_HUMAN	crystallin, zeta (quinone reductase)	46					protein homotetramerization|visual perception|xenobiotic catabolic process	cytosol|Golgi apparatus	mRNA 3'-UTR binding|NADPH binding|NADPH:quinone reductase activity|zinc ion binding			NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)	10					Dicumarol(DB00266)	CGGGGTTGACACCACATGCAT	0.428000													64	38					0	0	1	0	0
A2M	2	broad.mit.edu	37	12	9229519	9229519	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:9229519C>T	ENST00000318602.7	-	28	3672	c.3365G>A	c.(3364-3366)cGc>cAc	p.R1122H		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	1122					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	CAGGGCATTGCGGACAACAGG	0.502000													31	63					0	0	1	0	0
IPO13	9670	broad.mit.edu	37	1	44424502	44424502	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:44424502G>A	ENST00000372343.3	+	11	2631	c.1969G>A	c.(1969-1971)Gag>Aag	p.E657K		NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	657					protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				CAGTCATCATGAGGATGATCA	0.547000													24	39					0	0	1	0	0
LYST	1130	broad.mit.edu	37	1	235887453	235887453	+	Missense_Mutation	SNP	A	A	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:235887453A>T	ENST00000389794.3	-	39	9364	c.9190T>A	c.(9190-9192)Tca>Aca	p.S3064T	LYST_ENST00000389793.2_Missense_Mutation_p.S3064T|LYST_ENST00000473037.1_5'UTR			Q99698	LYST_HUMAN	lysosomal trafficking regulator	3064					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CAGGAAAATGATGCTGGTTCC	0.323000													14	162					0	0	1	0	0
RAD50	10111	broad.mit.edu	37	5	131911478	131911478	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr5:131911478G>C	ENST00000265335.6	+	3	610	c.223G>C	c.(223-225)Gaa>Caa	p.E75Q	RAD50_ENST00000378823.3_5'UTR			Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	75					DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GGTTGCTCAAGAAACAGATGT	0.373000								Homologous recombination					3	30					0	0	1	0	0
REV3L	5980	broad.mit.edu	37	6	111697217	111697217	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr6:111697217C>T	ENST00000435970.1	-	15	2923	c.2107G>A	c.(2107-2109)Gaa>Aaa	p.E703K	REV3L_ENST00000368805.1_Missense_Mutation_p.E781K|REV3L_ENST00000358835.3_Missense_Mutation_p.E781K|REV3L_ENST00000368802.3_Missense_Mutation_p.E781K			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	781					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		GTTTTATGTTCTTGAAATTCT	0.378000								DNA polymerases (catalytic subunits)					23	33					0	0	1	0	0
PNPLA6	10908	broad.mit.edu	37	19	7615490	7615490	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:7615490G>A	ENST00000221249.6	+	19	2348	c.1917G>A	c.(1915-1917)ctG>ctA	p.L639L	PNPLA6_ENST00000600737.1_Silent_p.L678L|PNPLA6_ENST00000594864.1_3'UTR|PNPLA6_ENST00000545201.2_Silent_p.L613L|PNPLA6_ENST00000414982.3_Silent_p.L687L|PNPLA6_ENST00000450331.3_Silent_p.L639L	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	678					cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						AGAAGGAGCTGGTGGGCGAGT	0.662000													17	22					0	0	1	0	0
ZNF878	729747	broad.mit.edu	37	19	12157504	12157504	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:12157504C>A	ENST00000602107.1	-	3	215	c.216G>T	c.(214-216)caG>caT	p.Q72H	ZNF878_ENST00000547628.1_Missense_Mutation_p.Q25H|CTD-2006C1.10_ENST00000547473.1_Missense_Mutation_p.Q25H			C9JN71	ZN878_HUMAN	zinc finger protein 878	25	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						AGAGATTTTTCTGGGAAGGAT	0.478000													67	88					2.02627e-32	2.28751e-32	1	1	0
TRAK2	66008	broad.mit.edu	37	2	202251049	202251049	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:202251049T>C	ENST00000332624.3	-	14	2283	c.1855A>G	c.(1855-1857)Act>Gct	p.T619A		NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	619				Missing (in Ref. 2).		early endosome|plasma membrane	GABA receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						ACCTGAAAAGTAATACCCTCC	0.463000													9	69					0	0	1	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70650368	70650368	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr8:70650368C>A	ENST00000260126.4	-	5	2036	c.1330G>T	c.(1330-1332)Gag>Tag	p.E444*	SLCO5A1_ENST00000530307.1_Intron|SLCO5A1_ENST00000524945.1_Nonsense_Mutation_p.E444*	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1							integral to membrane|plasma membrane	transporter activity	p.E444Q(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			ATGGCACTCTCAGCTGTGTAT	0.423000													51	35					2.48254e-18	2.76368e-18	1	1	0
ARTN	9048	broad.mit.edu	37	1	44401732	44401732	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:44401732C>G	ENST00000438616.3	+	1	254	c.79C>G	c.(79-81)Ctc>Gtc	p.L27V	ARTN_ENST00000414809.3_Intron|ARTN_ENST00000479128.1_Intron|ARTN_ENST00000472435.1_Intron|ARTN_ENST00000372354.3_Intron|ARTN_ENST00000498139.2_Intron|ARTN_ENST00000372359.5_Intron			Q5T4W7	ARTN_HUMAN	artemin	0					axon guidance|neuroblast proliferation|signal transduction	extracellular region	growth factor activity					Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				TGCCCTCTTTCTCCCTGAGGC	0.687000													4	18					0	0	1	0	0
C20orf144	128864	broad.mit.edu	37	20	32251484	32251484	+	Silent	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr20:32251484G>T	ENST00000375222.3	+	2	335	c.273G>T	c.(271-273)ccG>ccT	p.P91P	NECAB3_ENST00000246190.6_Intron|NECAB3_ENST00000375238.4_Intron	NM_080825.3	NP_543015.1	Q9BQM9	CT144_HUMAN	chromosome 20 open reading frame 144	91										lung(1)	1						AGCGCGAGCCGAGGATGCCGG	0.741000													8	4					0.000157383	0.000161411	1	1	0
ACTN2	88	broad.mit.edu	37	1	236899015	236899015	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:236899015G>A	ENST00000366578.4	+	8	944	c.778G>A	c.(778-780)Gag>Aag	p.E260K	ACTN2_ENST00000546208.1_Intron|ACTN2_ENST00000492634.1_3'UTR|ACTN2_ENST00000542672.1_Intron	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	260					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			TGCGGGCGCGGAGCAGGTACT	0.498000													26	15					0	0	1	0	0
USP16	10600	broad.mit.edu	37	21	30419060	30419060	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr21:30419060G>C	ENST00000334352.4	+	15	1660	c.1429G>C	c.(1429-1431)Gaa>Caa	p.E477Q	USP16_ENST00000535828.1_Missense_Mutation_p.E106Q|USP16_ENST00000399976.2_Missense_Mutation_p.E477Q|USP16_ENST00000399975.3_Missense_Mutation_p.E476Q	NM_001032410.1	NP_001027582.1	Q9Y5T5	UBP16_HUMAN	ubiquitin specific peptidase 16	477					cell division|histone deubiquitination|mitosis|positive regulation of transcription, DNA-dependent|protein homotetramerization|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|histone binding|transcription coactivator activity|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(2)	34						TGACCATCCTGAAGACAGTGA	0.318000													9	51					0	0	1	0	0
ISM2	145501	broad.mit.edu	37	14	77942212	77942212	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr14:77942212G>C	ENST00000393684.3	-	8	1569	c.1178C>G	c.(1177-1179)tCt>tGt	p.S393C	ISM2_ENST00000342219.4_Missense_Mutation_p.S481C|ISM2_ENST00000493585.1_3'UTR|ISM2_ENST00000429906.1_Missense_Mutation_p.S400C|ISM2_ENST00000412904.1_Missense_Mutation_p.S400C			Q6H9L7	ISM2_HUMAN	isthmin 2	481						extracellular region				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						GCTCTCCCCAGACAGCATGGA	0.687000													5	40					0	0	1	0	0
PDE6C	5146	broad.mit.edu	37	10	95400704	95400704	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr10:95400704G>T	ENST00000371447.3	+	14	1903	c.1765G>T	c.(1765-1767)Gat>Tat	p.D589Y		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	589					visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			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)				GTACTACACAGATCTCGAAGC	0.363000													15	29					0.00244969	0.00249032	1	1	0
KBTBD7	84078	broad.mit.edu	37	13	41766848	41766848	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr13:41766848G>A	ENST00000379483.3	-	1	1854	c.1546C>T	c.(1546-1548)Cag>Tag	p.Q516*		NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	516							protein binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		CATGCTTCCTGAAAGTCACTA	0.428000													82	11					0	0	1	0	0
AMOT	154796	broad.mit.edu	37	X	112033888	112033888	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chrX:112033888C>T	ENST00000371959.3	-	7	2048	c.2049G>A	c.(2047-2049)caG>caA	p.Q683Q	AMOT_ENST00000371962.1_Silent_p.Q451Q|AMOT_ENST00000371958.1_Silent_p.Q451Q|AMOT_ENST00000304758.1_Silent_p.Q274Q|AMOT_ENST00000524145.1_Silent_p.Q683Q	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN	angiomotin	683					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						CCAAATATTTCTGCTCCCACT	0.493000													34	103					0	0	1	0	0
MBNL2	10150	broad.mit.edu	37	13	98043621	98043621	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr13:98043621C>T	ENST00000376673.3	+	8	1821	c.1040C>T	c.(1039-1041)tCt>tTt	p.S347F	MBNL2_ENST00000345429.6_3'UTR|MBNL2_ENST00000343600.4_Missense_Mutation_p.S335F|MBNL2_ENST00000445661.2_Missense_Mutation_p.S180F|MBNL2_ENST00000397601.1_Missense_Mutation_p.S335F			Q5VZF2	MBNL2_HUMAN	muscleblind-like splicing regulator 2	347					mRNA processing|regulation of RNA splicing|RNA splicing	cytoplasm|nucleus	RNA binding|zinc ion binding			endometrium(4)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.218)			TGCCAAGAATCTGCATTGAGA	0.343000													30	56					0	0	1	0	0
ABCB4	5244	broad.mit.edu	37	7	87060748	87060748	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr7:87060748C>A	ENST00000265723.4	-	15	1976	c.1865G>T	c.(1864-1866)gGg>gTg	p.G622V	ABCB4_ENST00000545634.1_Missense_Mutation_p.G622V|ABCB4_ENST00000359206.3_Missense_Mutation_p.G622V|ABCB4_ENST00000358400.3_Missense_Mutation_p.G622V|ABCB4_ENST00000453593.1_Missense_Mutation_p.G622V	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	622	ABC transporter 1.				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					GAAGTACACCCCTTCCTTCTT	0.413000													18	113					3.52763e-06	3.67579e-06	1	1	0
USE1	55850	broad.mit.edu	37	19	17327021	17327021	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:17327021C>G	ENST00000595101.1	+	4	293	c.275C>G	c.(274-276)cCt>cGt	p.P92R	USE1_ENST00000263897.5_Missense_Mutation_p.P92R|USE1_ENST00000379776.4_Missense_Mutation_p.P92R|USE1_ENST00000445667.2_Missense_Mutation_p.P92R|USE1_ENST00000596136.1_Missense_Mutation_p.P92R			Q9NZ43	USE1_HUMAN	unconventional SNARE in the ER 1 homolog (S. cerevisiae)	92					lysosomal transport|protein catabolic process|protein transport|secretion by cell|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(2)|endometrium(1)|lung(3)	6						TTCCTGGCCCCTGGCCGTGTG	0.607000													10	45					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179413724	179413724	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:179413724C>T	ENST00000589042.1	-	339	92853	c.92629G>A	c.(92629-92631)Gtg>Atg	p.V30877M	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V21937M|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V21812M|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V22004M|TTN_ENST00000591111.1_Missense_Mutation_p.V29236M|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V28309M|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000438095.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	29236	Fibronectin type-III 125.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTGTTTTCACACATGCCTCT	0.423000													49	41					0	0	1	0	0
STK36	27148	broad.mit.edu	37	2	219544719	219544719	+	Nonsense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:219544719C>G	ENST00000295709.3	+	9	1331	c.1052C>G	c.(1051-1053)tCa>tGa	p.S351*	STK36_ENST00000440309.1_Nonsense_Mutation_p.S351*|STK36_ENST00000392105.3_Nonsense_Mutation_p.S351*|STK36_ENST00000392106.2_Nonsense_Mutation_p.S351*	NM_015690.4	NP_056505.2	Q9NRP7	STK36_HUMAN	serine/threonine kinase 36	351					cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		CCTCAGGAATCAAGCCTCCTG	0.587000													21	34					0	0	1	0	0
ZNF800	168850	broad.mit.edu	37	7	127014383	127014383	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr7:127014383G>A	ENST00000393313.1	-	5	1598	c.1007C>T	c.(1006-1008)tCt>tTt	p.S336F	ZNF800_ENST00000393312.1_Missense_Mutation_p.S336F|ZNF800_ENST00000265827.3_Missense_Mutation_p.S336F			Q2TB10	ZN800_HUMAN	zinc finger protein 800	336					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						TTTTTTAGGAGAAATAGAATC	0.373000													35	59					0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48678958	48678958	+	Splice_Site	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:48678958C>T	ENST00000544264.1	-	34	9120		c.e34-1		CELSR3_ENST00000164024.4_Splice_Site			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3						homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CCATCCACATCTGTGGAGCCA	0.597000													23	17					0	0	1	0	0
NCKAP5L	57701	broad.mit.edu	37	12	50195682	50195682	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:50195682C>T	ENST00000335999.6	-	6	501	c.300G>A	c.(298-300)ctG>ctA	p.L100L		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	96								p.L100L(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						ACAGGGCACTCAGCATCTGGT	0.592000													15	66					0	0	1	0	0
LRRC37A4P	55073	broad.mit.edu	37	17	43587657	43587657	+	RNA	SNP	C	C	T	rs148404065	by1000genomes	TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:43587657C>T	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							GGTGACAACACATCTGTTTTA	0.323000													5	95					0	0	1	0	0
ZNF491	126069	broad.mit.edu	37	19	11917579	11917579	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:11917579C>G	ENST00000323169.5	+	3	1142	c.811C>G	c.(811-813)Cat>Gat	p.H271D	ZNF491_ENST00000492230.1_Intron	NM_152356.3	NP_689569.2	Q8N8L2	ZN491_HUMAN	zinc finger protein 491	271					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(14)|lung(6)|ovary(2)|skin(1)	26						AGAGAGGCCTCATAAATGTAA	0.408000													39	54					0	0	1	0	0
ERAP2	64167	broad.mit.edu	37	5	96249154	96249154	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr5:96249154C>T	ENST00000437043.3	+	17	3361	c.2650C>T	c.(2650-2652)Ctg>Ttg	p.L884L	ERAP2_ENST00000379904.4_Silent_p.L839L|CTD-2260A17.2_ENST00000501338.1_Intron	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	884					antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		GACCCATCTTCTGAAAAAGTT	0.413000													7	15					0	0	1	0	0
MYO1D	4642	broad.mit.edu	37	17	30986161	30986161	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:30986161C>G	ENST00000318217.5	-	17	2621	c.2317G>C	c.(2317-2319)Gag>Cag	p.E773Q	MYO1D_ENST00000394649.4_Missense_Mutation_p.E685Q|MYO1D_ENST00000579584.1_Missense_Mutation_p.E773Q|RP11-220C2.1_ENST00000582272.1_RNA	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	773						myosin complex	actin binding|ATP binding|calmodulin binding	p.E773K(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			AGGGCCTCCTCAAAACGGCGA	0.517000											OREG0024311	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	65					0	0	1	0	0
WDR45	11152	broad.mit.edu	37	X	48932868	48932868	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chrX:48932868G>A	ENST00000356463.3	-	11	1341	c.903C>T	c.(901-903)ttC>ttT	p.F301F	WDR45_ENST00000396681.4_Silent_p.F286F|WDR45_ENST00000473974.1_Intron|AF196779.12_ENST00000376358.3_Intron|WDR45_ENST00000485908.1_Silent_p.F265F|WDR45_ENST00000322995.8_Silent_p.F311F|WDR45_ENST00000376368.2_Silent_p.F301F|WDR45_ENST00000376372.3_Silent_p.F300F|WDR45_ENST00000553851.1_Intron	NM_007075.3	NP_009006.2	Q9Y484	WIPI4_HUMAN	WD repeat domain 45	300				FTV -> YTA (in Ref. 1; AAV80764).	autophagy|response to starvation	organelle membrane	phosphatidylinositol-3,5-bisphosphate binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	19						CAGGCACAGTGAAGCTCGCCA	0.597000													6	12					0	0	1	0	0
MDH1B	130752	broad.mit.edu	37	2	207621668	207621668	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:207621668C>A	ENST00000374412.3	-	4	642	c.367G>T	c.(367-369)Gaa>Taa	p.E123*	MDH1B_ENST00000454776.2_Nonsense_Mutation_p.E123*|MDH1B_ENST00000449792.1_Nonsense_Mutation_p.E25*|MDH1B_ENST00000392214.2_Nonsense_Mutation_p.E123*	NM_001039845.1|NM_001282940.1	NP_001034934.1|NP_001269869.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	123					carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		TTCAGGGCTTCTTCCTCCTGC	0.428000													10	28					2.80697e-09	2.98761e-09	1	1	0
SLFN12	55106	broad.mit.edu	37	17	33749640	33749640	+	Silent	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:33749640G>C	ENST00000394562.1	-	4	931	c.408C>G	c.(406-408)gtC>gtG	p.V136V	SLFN12_ENST00000304905.5_Silent_p.V136V|SLFN12_ENST00000452764.3_Silent_p.V136V			Q8IYM2	SLN12_HUMAN	schlafen family member 12	136							ATP binding			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)		TGGCATTCATGACTTTTGCAG	0.428000													22	54					0	0	1	0	0
CUL1	8454	broad.mit.edu	37	7	148463737	148463737	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr7:148463737G>A	ENST00000325222.4	+	8	1153	c.874G>A	c.(874-876)Gaa>Aaa	p.E292K	CUL1_ENST00000602748.1_Missense_Mutation_p.E292K|CUL1_ENST00000409469.1_Missense_Mutation_p.E292K	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	292					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			AAGGAAATGTGAACAAGTCCT	0.378000													14	54					0	0	1	0	0
GOLGA4	2803	broad.mit.edu	37	3	37368570	37368570	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:37368570G>A	ENST00000361924.2	+	14	5567	c.5193G>A	c.(5191-5193)caG>caA	p.Q1731Q	GOLGA4_ENST00000356847.4_Silent_p.Q1753Q|GOLGA4_ENST00000444882.1_Intron	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	1731	Glu-rich.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GCTGTGTGCAGAAGACATATG	0.373000													39	104					0	0	1	0	0
SPAM1	6677	broad.mit.edu	37	7	123594167	123594167	+	Silent	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr7:123594167C>G	ENST00000340011.5	+	3	900	c.543C>G	c.(541-543)ctC>ctG	p.L181L	SPAM1_ENST00000223028.7_Silent_p.L181L|SPAM1_ENST00000439500.1_Silent_p.L181L|SPAM1_ENST00000460182.1_Silent_p.L181L|SPAM1_ENST00000402183.2_Silent_p.L181L	NM_003117.4	NP_003108.2	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	181					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	AACTTAGTCTCACAGAGGCCA	0.388000													22	71					0	0	1	0	0
SEPT11	55752	broad.mit.edu	37	4	77952017	77952017	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr4:77952017G>T	ENST00000264893.6	+	9	1369	c.1168G>T	c.(1168-1170)Gag>Tag	p.E390*	SEPT11_ENST00000510515.1_Nonsense_Mutation_p.E400*|SEPT11_ENST00000512575.1_3'UTR|SEPT11_ENST00000502584.1_Nonsense_Mutation_p.E390*|SEPT11_ENST00000505788.1_Nonsense_Mutation_p.E390*|SEPT11_ENST00000541121.1_Nonsense_Mutation_p.E400*	NM_018243.2	NP_060713.1	Q9NVA2	SEP11_HUMAN	septin 11	390					cell cycle|cell division|protein heterooligomerization	axon|cell junction|dendritic spine|septin complex|stress fiber|synapse	GTP binding|protein binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(1)|skin(1)|stomach(1)	11						GGAGCTTGAGGAGGAGGTGAA	0.468000													10	37					7.48243e-07	7.85165e-07	1	1	0
SPTBN5	51332	broad.mit.edu	37	15	42178522	42178522	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr15:42178522A>G	ENST00000320955.6	-	7	1158	c.931T>C	c.(931-933)Tac>Cac	p.Y311H		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	311					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		AGCTGCTCGTACTGGGTCTGC	0.622000													3	18					0	0	1	0	0
PLB1	151056	broad.mit.edu	37	2	28761192	28761192	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:28761192C>G	ENST00000422425.2	+	10	639	c.595C>G	c.(595-597)Ctt>Gtt	p.L199V	PLB1_ENST00000327757.5_Missense_Mutation_p.L188V	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	188	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					ACAGAATGGGCTTGCGGCGGG	0.662000													5	35					0	0	1	0	0
FCN1	2219	broad.mit.edu	37	9	137803022	137803022	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr9:137803022C>G	ENST00000371806.3	-	8	781	c.690G>C	c.(688-690)gaG>gaC	p.E230D		NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN	ficolin (collagen/fibrinogen domain containing) 1	230	Fibrinogen C-terminal.				opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding			endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		GCTTGTACTTCTCTGCCTCGT	0.562000													72	173					0	0	1	0	0
CNOT1	23019	broad.mit.edu	37	16	58565903	58565903	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr16:58565903T>C	ENST00000317147.5	-	42	6468	c.6136A>G	c.(6136-6138)Ata>Gta	p.I2046V	CNOT1_ENST00000245138.4_Missense_Mutation_p.I897V|CNOT1_ENST00000569240.1_Missense_Mutation_p.I2041V	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	2046					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		GCAATAAATATCCGATGGGAA	0.423000													99	33					0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71791217	71791217	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:71791217C>T	ENST00000258104.3	+	24	2662	c.2385C>T	c.(2383-2385)atC>atT	p.I795I	DYSF_ENST00000429174.2_Silent_p.I795I|DYSF_ENST00000409651.1_Silent_p.I827I|DYSF_ENST00000409744.1_Silent_p.I782I|DYSF_ENST00000413539.2_Silent_p.I826I|DYSF_ENST00000394120.2_Silent_p.I796I|DYSF_ENST00000409582.3_Silent_p.I812I|DYSF_ENST00000409366.1_Silent_p.I796I|DYSF_ENST00000410041.1_Silent_p.I813I|DYSF_ENST00000409762.1_Silent_p.I812I|DYSF_ENST00000410020.3_Silent_p.I813I	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	795						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						ACATCGTCATCTGGATGCTGC	0.642000													28	118					0	0	1	0	0
CCDC53	51019	broad.mit.edu	37	12	102433677	102433677	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:102433677C>A	ENST00000240079.6	-	5	565	c.404G>T	c.(403-405)aGa>aTa	p.R135I	CCDC53_ENST00000539515.1_5'UTR|CCDC53_ENST00000545679.1_Missense_Mutation_p.R134I	NM_016053.2	NP_057137.1	Q9Y3C0	CCD53_HUMAN	coiled-coil domain containing 53	135						WASH complex	protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						TCTGGCATATCTTGGATCCTT	0.403000													60	67					8.72158e-25	9.82475e-25	1	1	0
DMKN	93099	broad.mit.edu	37	19	36002341	36002341	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:36002341C>A	ENST00000339686.3	-	5	1066	c.890G>T	c.(889-891)aGa>aTa	p.R297I	DMKN_ENST00000447113.2_Missense_Mutation_p.R297I|DMKN_ENST00000419602.1_Intron|DMKN_ENST00000451297.2_Missense_Mutation_p.R297I|DMKN_ENST00000418261.1_Missense_Mutation_p.R297I|DMKN_ENST00000429837.1_Intron|DMKN_ENST00000424570.2_Missense_Mutation_p.R297I|DMKN_ENST00000440396.1_Missense_Mutation_p.R297I	NM_033317.4	NP_201574	Q6E0U4	DMKN_HUMAN	dermokine	297	Gly-rich.					extracellular region				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GCTGTCACCTctgctgccacc	0.647000													3	23					0.004672	0.00474024	1	1	0
KCNU1	157855	broad.mit.edu	37	8	36697995	36697995	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr8:36697995G>C	ENST00000399881.3	+	15	1570	c.1533G>C	c.(1531-1533)caG>caC	p.Q511H		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	511						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		TGCCTAAACAGACCTGGAAGA	0.403000													5	34					0	0	1	0	0
ZZEF1	23140	broad.mit.edu	37	17	3992006	3992006	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:3992006G>A	ENST00000381638.2	-	13	2331	c.2207C>T	c.(2206-2208)aCc>aTc	p.T736I	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	736							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						AAACTGAAGGGTCCTGAGGAG	0.527000													5	25					0	0	1	0	0
EBNA1BP2	10969	broad.mit.edu	37	1	43630326	43630326	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:43630326C>G	ENST00000431635.2	-	9	1171	c.1023G>C	c.(1021-1023)aaG>aaC	p.K341N	EBNA1BP2_ENST00000236051.2_Missense_Mutation_p.K286N	NM_001159936.1	NP_001153408.1	Q99848	EBP2_HUMAN	EBNA1 binding protein 2	286					ribosome biogenesis	membrane fraction|nucleolus	protein binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)	16	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TTGACCCTTTCTTGCCAGGCC	0.572000													33	20					0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124315201	124315201	+	Silent	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:124315201C>A	ENST00000409039.3	+	25	4171	c.4146C>A	c.(4144-4146)ctC>ctA	p.L1382L		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1382	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CAGATGTTCTCAATGAGATTG	0.368000													13	19					7.93312e-07	8.31621e-07	1	1	0
SPTBN2	6712	broad.mit.edu	37	11	66458983	66458983	+	Silent	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr11:66458983G>C	ENST00000533211.1	-	27	5668	c.5337C>G	c.(5335-5337)ctC>ctG	p.L1779L	SPTBN2_ENST00000529997.1_Silent_p.L1779L|SPTBN2_ENST00000309996.2_Silent_p.L1779L			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1779					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						AGGCCTCGTTGAGACTGTCCT	0.672000													8	29					0	0	1	0	0
LRPPRC	10128	broad.mit.edu	37	2	44161983	44161983	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:44161983C>T	ENST00000260665.7	-	24	2596	c.2539G>A	c.(2539-2541)Gac>Aac	p.D847N		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	847					mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TCATAGCAGTCAATGGCGACC	0.363000													10	77					0	0	1	0	0
OR5K1	26339	broad.mit.edu	37	3	98189098	98189098	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:98189098C>G	ENST00000332650.5	+	1	775	c.678C>G	c.(676-678)ttC>ttG	p.F226L		NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K, member 1	226					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TTACTATTTTCAAAATGAAAT	0.343000													75	58					0	0	1	0	0
RALY	22913	broad.mit.edu	37	20	32661429	32661429	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr20:32661429C>G	ENST00000375114.3	+	4	895	c.317C>G	c.(316-318)tCt>tGt	p.S106C	RALY_ENST00000493399.1_3'UTR|RALY_ENST00000246194.3_Missense_Mutation_p.S106C	NM_007367.3	NP_031393.2	Q9UKM9	RALY_HUMAN	RALY heterogeneous nuclear ribonucleoprotein	106						catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex	nucleotide binding|RNA binding			kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						AGAGCAGCATCTGCCATATAC	0.517000													13	66					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62289440	62289440	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr11:62289440G>A	ENST00000378024.4	-	5	12723	c.12449C>T	c.(12448-12450)tCt>tTt	p.S4150F	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4150					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TTTGGGCAGAGAAACGTCCAC	0.522000													41	92					0	0	1	0	0
GPR142	350383	broad.mit.edu	37	17	72366737	72366737	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:72366737G>C	ENST00000335666.4	+	3	484	c.436G>C	c.(436-438)Gag>Cag	p.E146Q		NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	146						cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						CCACTGGCCAGAGATCGCAGA	0.647000													15	33					0	0	1	0	0
SLC25A40	55972	broad.mit.edu	37	7	87485664	87485664	+	Missense_Mutation	SNP	T	T	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr7:87485664T>A	ENST00000341119.5	-	4	446	c.100A>T	c.(100-102)Aca>Tca	p.T34S		NM_018843.3	NP_061331.2	Q8TBP6	S2540_HUMAN	solute carrier family 25, member 40	34					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	17	Esophageal squamous(14;0.00202)					TCCAGGGGTGTCACTATGAAG	0.343000													23	155					0	0	1	0	0
LOC101927209	101927209	broad.mit.edu	37	1	142713931	142713931	+	RNA	SNP	T	T	A	rs75994571	by1000genomes	TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:142713931T>A	ENST00000610091.1	-	0	1727																											AAATAACATATCATGATTACC	0.303000													5	38					0	0	1	0	0
TTYH1	57348	broad.mit.edu	37	19	54937898	54937898	+	Silent	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:54937898C>G	ENST00000301194.4	+	5	809	c.687C>G	c.(685-687)ctC>ctG	p.L229L	TTYH1_ENST00000376531.3_Silent_p.L229L|TTYH1_ENST00000489425.1_3'UTR|TTYH1_ENST00000391739.3_Silent_p.L278L|TTYH1_ENST00000376530.3_Silent_p.L229L			Q9H313	TTYH1_HUMAN	tweety family member 1	229					cell adhesion	chloride channel complex|plasma membrane	chloride channel activity|iron ion transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0767)		TGGTCTGCCTCTTCACCCTCC	0.647000													15	102					0	0	1	0	0
FSHR	2492	broad.mit.edu	37	2	49190703	49190703	+	Silent	SNP	T	T	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:49190703T>G	ENST00000406846.2	-	10	1376	c.1257A>C	c.(1255-1257)gcA>gcC	p.A419A	FSHR_ENST00000541117.1_Silent_p.A155A|FSHR_ENST00000304421.4_Silent_p.A393A|FSHR_ENST00000346173.3_Silent_p.A357A	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	419			A -> T (in ODG1).		female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	TATCAACTGATGCAATGAGCA	0.473000									Gonadal Dysgenesis, 46 XX				5	141					0	0	1	0	0
ASAP1	50807	broad.mit.edu	37	8	131140337	131140337	+	Splice_Site	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr8:131140337C>T	ENST00000357668.1	-	15	1245		c.e15-1		ASAP1_ENST00000518721.1_Splice_Site			Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1						cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						TGATATCCATCTGTTGGTAAA	0.363000													25	37					0	0	1	0	0
FBXO31	79791	broad.mit.edu	37	16	87365010	87365010	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr16:87365010C>G	ENST00000311635.7	-	9	1516	c.1504G>C	c.(1504-1506)Gag>Cag	p.E502Q	RP11-178L8.4_ENST00000568879.1_Intron	NM_001282683.1|NM_024735.3	NP_001269612.1|NP_079011.3	Q5XUX0	FBX31_HUMAN	F-box protein 31	502					cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	SCF ubiquitin ligase complex	cyclin binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0272)		GATTTCAGCTCCAGCCAGACG	0.622000													14	24					0	0	1	0	0
KIAA0195	9772	broad.mit.edu	37	17	73491026	73491026	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:73491026C>G	ENST00000314256.7	+	20	3033	c.2639C>G	c.(2638-2640)tCc>tGc	p.S880C	KIAA0195_ENST00000375248.5_Missense_Mutation_p.S890C|KIAA0195_ENST00000579208.1_Missense_Mutation_p.S531C	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	880					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism	p.S880C(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			TGCCACATCTCCCTCACACCC	0.582000													36	80					0	0	1	0	0
AEBP1	165	broad.mit.edu	37	7	44144280	44144280	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr7:44144280G>T	ENST00000223357.3	+	1	321	c.16G>T	c.(16-18)Ggg>Tgg	p.G6W		NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	6					cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						ggccgtgcgcggggcgccccT	0.751000													3	4					0.004672	0.00474024	1	1	0
DDX3X	1654	broad.mit.edu	37	X	41203072	41203072	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chrX:41203072G>A	ENST00000399959.2	+	8	1617	c.762G>A	c.(760-762)atG>atA	p.M254I	DDX3X_ENST00000478993.1_3'UTR|DDX3X_ENST00000441189.2_Intron|DDX3X_ENST00000542215.1_Intron|DDX3X_ENST00000457138.2_Missense_Mutation_p.M238I	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	254	Helicase ATP-binding.				interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						TGAGGGCCATGAAGGTAGATG	0.398000										HNSCC(61;0.18)			20	20					0	0	1	0	0
PCOLCE2	26577	broad.mit.edu	37	3	142606552	142606552	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:142606552C>T	ENST00000295992.3	-	2	457	c.151G>A	c.(151-153)Gga>Aga	p.G51R	PCOLCE2_ENST00000485766.1_Missense_Mutation_p.G51R|PCOLCE2_ENST00000461818.1_5'UTR	NM_013363.3	NP_037495.1	Q9UKZ9	PCOC2_HUMAN	procollagen C-endopeptidase enhancer 2	51	CUB 1.					extracellular region	collagen binding|heparin binding|peptidase activator activity			NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						GGGTACACTCCAGGAAAACCT	0.398000													19	30					0	0	1	0	0
EXPH5	23086	broad.mit.edu	37	11	108384109	108384109	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr11:108384109C>T	ENST00000265843.4	-	6	2235	c.2125G>A	c.(2125-2127)Gaa>Aaa	p.E709K	EXPH5_ENST00000428840.1_Missense_Mutation_p.E633K|EXPH5_ENST00000525344.1_Missense_Mutation_p.E702K|EXPH5_ENST00000443411.1_Missense_Mutation_p.E521K	NM_015065.2	NP_055880	Q149M6	Q149M6_HUMAN	exophilin 5	709					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		TTGTCTTCTTCTGAAATAGAT	0.413000													22	54					0	0	1	0	0
PCDHGA7	56108	broad.mit.edu	37	5	140763490	140763490	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr5:140763490G>A	ENST00000518325.1	+	1	1024	c.1024G>A	c.(1024-1026)Gat>Aat	p.D342N	PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018920.2	NP_061743.1														NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGATGTAAATGATAATGCTCC	0.413000													38	5					0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	124008642	124008642	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr10:124008642G>A	ENST00000369005.1	+	21	8971	c.8631G>A	c.(8629-8631)ctG>ctA	p.L2877L	TACC2_ENST00000368999.1_Silent_p.L967L|TACC2_ENST00000515273.1_Silent_p.L2804L|TACC2_ENST00000369000.1_Silent_p.L500L|TACC2_ENST00000369004.3_Silent_p.L937L|TACC2_ENST00000515603.1_Silent_p.L2755L|TACC2_ENST00000334433.3_Silent_p.L2877L|TACC2_ENST00000513429.1_Silent_p.L1023L|TACC2_ENST00000453444.2_Silent_p.L2804L|TACC2_ENST00000260733.3_Silent_p.L955L|TACC2_ENST00000360561.3_Silent_p.L925L|TACC2_ENST00000369001.1_Silent_p.L504L|TACC2_ENST00000358010.1_Silent_p.L1023L	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2877						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				ACCAGGCCCTGAAGGTGCACG	0.602000													3	5					0	0	1	0	0
NEK4	6787	broad.mit.edu	37	3	52800388	52800388	+	Missense_Mutation	SNP	A	A	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:52800388A>C	ENST00000233027.5	-	3	566	c.364T>G	c.(364-366)Tta>Gta	p.L122V	NEK4_ENST00000535191.1_Missense_Mutation_p.L33V|NEK4_ENST00000383721.4_Missense_Mutation_p.L122V	NM_001193533.1|NM_003157.4	NP_001180462.1|NP_003148.2	P51957	NEK4_HUMAN	NIMA-related kinase 4	122	Protein kinase.				cell division|mitosis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10)	26				BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)		TTTTCATGTAAATACTGAGGA	0.333000													24	15					0	0	1	0	0
PKD1	5310	broad.mit.edu	37	16	2153270	2153270	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr16:2153270C>A	ENST00000262304.4	-	23	8996	c.8788G>T	c.(8788-8790)Gac>Tac	p.D2930Y	PKD1_ENST00000423118.1_Missense_Mutation_p.D2930Y	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2930					calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			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						CACGCACCGTCCAGCAGCGTA	0.647000													25	12					1.85244e-09	1.97771e-09	1	1	0
SEMA6C	10500	broad.mit.edu	37	1	151108989	151108989	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:151108989G>C	ENST00000341697.3	-	12	2732	c.1041C>G	c.(1039-1041)ttC>ttG	p.F347L				Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	347	Sema.					integral to membrane	receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TCTGCTCCTTGAACTTGCCCT	0.567000													43	204					0	0	1	0	0
RALGAPB	57148	broad.mit.edu	37	20	37191299	37191299	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr20:37191299G>T	ENST00000262879.6	+	24	3940	c.3656G>T	c.(3655-3657)tGg>tTg	p.W1219L	RALGAPB_ENST00000397042.3_Missense_Mutation_p.W1215L|RALGAPB_ENST00000397040.1_Missense_Mutation_p.W1219L|RALGAPB_ENST00000397038.1_Missense_Mutation_p.W997L			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	1219	Rap-GAP.				activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TCTACCAGTTGGTCTATTAAT	0.403000													42	43					2.59497e-14	2.84627e-14	1	1	0
UACA	55075	broad.mit.edu	37	15	70960935	70960935	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr15:70960935C>G	ENST00000322954.6	-	16	2273	c.2088G>C	c.(2086-2088)caG>caC	p.Q696H	UACA_ENST00000379983.2_Missense_Mutation_p.Q683H|UACA_ENST00000560441.1_Missense_Mutation_p.Q681H|UACA_ENST00000539319.1_Missense_Mutation_p.Q587H	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	696						cytoskeleton|extracellular region				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						CTCCTGATTTCTGTTCTAATC	0.363000													27	59					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152599392	152599392	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr6:152599392C>G	ENST00000367255.5	-	98	19006	c.18405G>C	c.(18403-18405)caG>caC	p.Q6135H	SYNE1_ENST00000423061.1_Missense_Mutation_p.Q6064H|SYNE1_ENST00000448038.1_Missense_Mutation_p.Q6064H|SYNE1_ENST00000356820.4_Missense_Mutation_p.Q659H|SYNE1_ENST00000341594.5_Missense_Mutation_p.Q5747H|SYNE1_ENST00000265368.4_Missense_Mutation_p.Q6135H	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6135					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CCACCACCTTCTGCTCTATTT	0.498000										HNSCC(10;0.0054)			6	95					0	0	1	0	0
JAK1	3716	broad.mit.edu	37	1	65316594	65316594	+	Splice_Site	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:65316594C>T	ENST00000342505.4	-	12	1897		c.e12-1			NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1						interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)		TTGGAGATTTCTGTGGAAGAG	0.597000			Mis		ALL								5	14					0	0	1	0	0
TAS2R40	259286	broad.mit.edu	37	7	142919411	142919411	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr7:142919411C>A	ENST00000408947.3	+	1	282	c.240C>A	c.(238-240)ttC>ttA	p.F80L		NM_176882.1	NP_795363.1	P59535	T2R40_HUMAN	taste receptor, type 2, member 40	80					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8	Melanoma(164;0.059)					AGAACATTTTCAGTCTGCTAT	0.448000													27	83					2.48779e-11	2.69188e-11	1	1	0
MYO5B	4645	broad.mit.edu	37	18	47404156	47404156	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr18:47404156C>T	ENST00000285039.7	-	25	3672	c.3373G>A	c.(3373-3375)Gag>Aag	p.E1125K	MYO5B_ENST00000324581.6_Missense_Mutation_p.E266K	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1125					protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		AGGGCATCCTCAGTGTCTCCG	0.512000													53	28					0	0	1	0	0
SNAPC4	6621	broad.mit.edu	37	9	139273711	139273711	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr9:139273711C>G	ENST00000298532.2	-	21	2936	c.2568G>C	c.(2566-2568)aaG>aaC	p.K856N		NM_003086.2	NP_003077.2	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex, polypeptide 4, 190kDa	856					snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		GGCTGGCACTCTTTGAGGCTT	0.662000													14	4					0	0	1	0	0
GFM2	84340	broad.mit.edu	37	5	74035829	74035829	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr5:74035829C>G	ENST00000296805.3	-	12	1521	c.1064G>C	c.(1063-1065)cGt>cCt	p.R355P	GFM2_ENST00000509430.1_Missense_Mutation_p.R355P|GFM2_ENST00000345239.2_Missense_Mutation_p.R355P|GFM2_ENST00000427854.2_Missense_Mutation_p.R355P	NM_032380.3	NP_115756.2	Q969S9	RRF2M_HUMAN	G elongation factor, mitochondrial 2	355					mitochondrial translation|ribosome disassembly	mitochondrion	GTP binding|GTPase activity			breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)		TTCATAGTTACGCTCTTCAGG	0.363000													17	1					0	0	1	0	0
SMOC2	64094	broad.mit.edu	37	6	168947789	168947789	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr6:168947789C>G	ENST00000354536.5	+	6	755	c.535C>G	c.(535-537)Ctg>Gtg	p.L179V	SMOC2_ENST00000356284.2_Intron	NM_022138.2	NP_071421.1	Q9H3U7	SMOC2_HUMAN	SPARC related modular calcium binding 2	170					signal transduction	basement membrane	calcium ion binding	p.L179M(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	32		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)		CTTTTCCGTTCTGAATTCAGA	0.512000													32	48					0	0	1	0	0
ITPR1	3708	broad.mit.edu	37	3	4842241	4842241	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:4842241C>T	ENST00000354582.6	+	53	7369	c.7019C>T	c.(7018-7020)tCa>tTa	p.S2340L	ITPR1_ENST00000463980.1_3'UTR|ITPR1_ENST00000423119.2_Missense_Mutation_p.S2307L|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000456211.2_Missense_Mutation_p.S2292L|ITPR1_ENST00000302640.8_Missense_Mutation_p.S2340L|ITPR1_ENST00000443694.2_Missense_Mutation_p.S2340L|ITPR1_ENST00000357086.4_Missense_Mutation_p.S2307L			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	2355					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		CTGATATTTTCAGTCGGGTTA	0.483000													17	61					0	0	1	0	0
SF3B1	23451	broad.mit.edu	37	2	198257718	198257718	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:198257718C>G	ENST00000335508.6	-	24	3825	c.3734G>C	c.(3733-3735)aGa>aCa	p.R1245T		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa						nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			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)			TTGCAACATTCTACATGGTCC	0.348000			Mis		myelodysplastic syndrome								5	32					0	0	1	0	0
ABCB8	11194	broad.mit.edu	37	7	150737667	150737667	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr7:150737667G>T	ENST00000358849.4	+	11	1427	c.1334G>T	c.(1333-1335)tGc>tTc	p.C445F	ABCB8_ENST00000542328.1_Missense_Mutation_p.C357F|ABCB8_ENST00000356058.4_3'UTR|ABCB8_ENST00000297504.6_Missense_Mutation_p.C462F|ABCB8_ENST00000498578.1_Missense_Mutation_p.C445F	NM_001282291.1|NM_001282293.1|NM_007188.3	NP_001269220.1|NP_001269222.1|NP_009119.2	Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 8	462						ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGGGGCTGCTGCGTCCCCAAA	0.647000													34	48					1.42033e-22	1.5931e-22	1	1	0
GRM5	2915	broad.mit.edu	37	11	88241803	88241803	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr11:88241803G>A	ENST00000418177.2	-	10	3963	c.3596C>T	c.(3595-3597)aCt>aTt	p.T1199I	GRM5_ENST00000305447.4_Missense_Mutation_p.T1199I|GRM5_ENST00000455756.2_Missense_Mutation_p.T1167I|GRM5_ENST00000305432.5_Missense_Mutation_p.T1167I|GRM5_ENST00000393297.1_Missense_Mutation_p.T929I|GRM5-AS1_ENST00000526448.1_RNA			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	1199					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	TATGATAAGAGTGTCATATTT	0.602000													8	18					0	0	1	0	0
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	by1000genomes	TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													4	42					0	0	1	0	0
LOH12CR1	118426	broad.mit.edu	37	12	12588569	12588569	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:12588569G>C	ENST00000314565.4	+	3	541	c.210G>C	c.(208-210)ttG>ttC	p.L70F	LOH12CR1_ENST00000542728.1_Missense_Mutation_p.L51F|LOH12CR1_ENST00000298571.6_Missense_Mutation_p.L22F	NM_058169.3	NP_477517.1	Q969J3	L12R1_HUMAN	loss of heterozygosity, 12, chromosomal region 1	70										kidney(1)|large_intestine(1)|lung(1)|ovary(1)	4		Prostate(47;0.0802)		BRCA - Breast invasive adenocarcinoma(232;0.0205)		AAGGGCTATTGAGTGGCCAGA	0.403000													12	52					0	0	1	0	0
C7orf43	55262	broad.mit.edu	37	7	99755004	99755004	+	Missense_Mutation	SNP	A	A	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr7:99755004A>T	ENST00000316937.3	-	4	901	c.716T>A	c.(715-717)gTg>gAg	p.V239E	C7orf43_ENST00000457641.1_5'UTR|C7orf43_ENST00000419841.1_5'UTR	NM_018275.3	NP_060745.3	Q8WVR3	CG043_HUMAN	chromosome 7 open reading frame 43	239										breast(1)|endometrium(3)|large_intestine(3)|lung(2)|prostate(1)	10	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ACCCTTGAGCACGGTCAAGTG	0.632000											OREG0018198	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	41					0	0	1	0	0
ACACA	31	broad.mit.edu	37	17	35468485	35468485	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:35468485G>C	ENST00000353139.5	-	52	7027	c.6546C>G	c.(6544-6546)atC>atG	p.I2182M	ACACA_ENST00000394406.2_Missense_Mutation_p.I2145M|ACACA_ENST00000335166.5_Missense_Mutation_p.I2067M|ACACA_ENST00000360679.3_Missense_Mutation_p.I2087M|ACACA_ENST00000361253.5_Missense_Mutation_p.I271M	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	2145	Carboxyltransferase.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	CAGCCAAGTGGATGTAGACTG	0.502000													29	47					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158615287	158615287	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:158615287G>A	ENST00000368147.4	-	28	4174	c.3994C>T	c.(3994-3996)Cag>Tag	p.Q1332*		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)						actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AGTTTTACCTGATGTCTCTCC	0.448000													43	74					0	0	1	0	0
PIGV	55650	broad.mit.edu	37	1	27121497	27121497	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:27121497G>C	ENST00000374145.1	+	3	1654	c.972G>C	c.(970-972)caG>caC	p.Q324H	PIGV_ENST00000078527.4_Missense_Mutation_p.Q324H|PIGV_ENST00000449950.2_Missense_Mutation_p.Q96H	NM_001202554.1	NP_001189483.1	Q9NUD9	PIGV_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class V	324					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	glycolipid mannosyltransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	14		all_cancers(24;3.93e-26)|all_epithelial(13;3.96e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.26e-54)|Epithelial(14;2.85e-53)|OV - Ovarian serous cystadenocarcinoma(117;1.91e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000504)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.0222)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227)		AGCTCAAGCAGGTGCCCAATT	0.488000													45	202					0	0	1	0	0
HCRT	3060	broad.mit.edu	37	17	40336367	40336367	+	Silent	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:40336367G>C	ENST00000293330.1	-	2	287	c.201C>G	c.(199-201)ggC>ggG	p.G67G		NM_001524.1	NP_001515.1	O43612	OREX_HUMAN	hypocretin (orexin) neuropeptide precursor	67					neuropeptide signaling pathway	cell junction|extracellular region|rough endoplasmic reticulum|synaptic vesicle				breast(1)|central_nervous_system(1)	2		all_cancers(22;1.39e-06)|all_epithelial(22;9.98e-06)|Breast(137;0.000143)|Ovarian(249;0.0221)|Myeloproliferative disorder(1115;0.0255)|Colorectal(1115;0.069)		BRCA - Breast invasive adenocarcinoma(366;0.124)		ACCTCCGCTTGCCCAGCGTGA	0.726000													6	4					0	0	1	0	0
WDR19	57728	broad.mit.edu	37	4	39280196	39280196	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr4:39280196G>C	ENST00000399820.3	+	36	4109	c.3955G>C	c.(3955-3957)Gaa>Caa	p.E1319Q	WDR19_ENST00000288634.7_Missense_Mutation_p.E1159Q	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	1319					cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding			large_intestine(1)	1						TATGTGTTCAGAAAGATTAAA	0.443000													23	37					0	0	1	0	0
GPA33	10223	broad.mit.edu	37	1	167024974	167024974	+	Silent	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:167024974G>C	ENST00000367868.3	-	5	1027	c.684C>G	c.(682-684)gtC>gtG	p.V228V	GPA33_ENST00000527955.1_5'UTR|RP11-102C16.3_ENST00000417644.1_RNA	NM_005814.1	NP_005805.1	Q99795	GPA33_HUMAN	glycoprotein A33 (transmembrane)	228						integral to plasma membrane	receptor activity			endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						TACGAGATCTGACGGCCACCG	0.557000													19	78					0	0	1	0	0
SLC4A10	57282	broad.mit.edu	37	2	162830786	162830786	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:162830786G>C	ENST00000375514.5	+	24	3417	c.3130G>C	c.(3130-3132)Gat>Cat	p.D1044H	SLC4A10_ENST00000446997.1_Missense_Mutation_p.D1063H|SLC4A10_ENST00000415876.2_Missense_Mutation_p.D1033H|SLC4A10_ENST00000421911.1_Intron|SLC4A10_ENST00000272716.5_Missense_Mutation_p.D1033H	NM_001178016.1	NP_001171487.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	1063					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AGCTATGGAAGATGAGGGCAC	0.323000													3	27					0	0	1	0	0
CCDC66	285331	broad.mit.edu	37	3	56655611	56655611	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:56655611G>A	ENST00000394672.3	+	18	2882	c.2812G>A	c.(2812-2814)Gaa>Aaa	p.E938K	CCDC66_ENST00000326595.7_Missense_Mutation_p.E904K|CCDC66_ENST00000436465.2_Missense_Mutation_p.E938K|FAM208A_ENST00000431842.2_3'UTR	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66	938										breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		GCCTTTAGCTGAAAATCAAGA	0.358000													26	50					0	0	1	0	0
NMT2	9397	broad.mit.edu	37	10	15154865	15154865	+	Nonsense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr10:15154865G>C	ENST00000378165.4	-	10	1348	c.1268C>G	c.(1267-1269)tCa>tGa	p.S423*	NMT2_ENST00000535341.1_Nonsense_Mutation_p.S410*|RPP38_ENST00000451677.1_Intron|NMT2_ENST00000378150.1_Nonsense_Mutation_p.S410*|NMT2_ENST00000540259.1_Nonsense_Mutation_p.S235*	NM_004808.2	NP_004799.1	O60551	NMT2_HUMAN	N-myristoyltransferase 2	423					N-terminal protein myristoylation|protein lipoylation	Golgi apparatus|plasma membrane	glycylpeptide N-tetradecanoyltransferase activity			breast(3)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(3)	21						GTTGTAGAATGAGTAGGCGGC	0.552000													25	137					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152281452	152281452	+	Silent	SNP	A	A	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:152281452A>T	ENST00000368799.1	-	3	5945	c.5910T>A	c.(5908-5910)tcT>tcA	p.S1970S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1970	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGCTGTCTGCAGAGTGCCCGT	0.557000									Ichthyosis				120	599					0	0	1	0	0
ARMC5	79798	broad.mit.edu	37	16	31470893	31470893	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr16:31470893C>T	ENST00000457010.2	+	1	749	c.48C>T	c.(46-48)ctC>ctT	p.L16L	ARMC5_ENST00000268314.4_Silent_p.L16L|ARMC5_ENST00000538189.1_Silent_p.L48L|ARMC5_ENST00000408912.3_Silent_p.L111L|RP11-452L6.5_ENST00000564629.1_RNA|ARMC5_ENST00000563544.1_Silent_p.L16L	NM_024742.2	NP_079018.1	Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	16							binding			central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						CGTTCTGCCTCGCGCAGCTCG	0.716000													5	8					0	0	1	0	0
GLRX	2745	broad.mit.edu	37	5	95158310	95158310	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr5:95158310G>C	ENST00000379979.4	-	1	108	c.57C>G	c.(55-57)atC>atG	p.I19M	GLRX_ENST00000508780.1_Missense_Mutation_p.I19M|GLRX_ENST00000512469.2_Missense_Mutation_p.I19M|GLRX_ENST00000237858.6_Missense_Mutation_p.I19M|GLRX_ENST00000505427.1_Missense_Mutation_p.I19M	NM_002064.2	NP_002055.1	P35754	GLRX1_HUMAN	glutaredoxin (thioltransferase)	19	Glutaredoxin.				cell redox homeostasis|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|transport	cytosol	electron carrier activity|glutathione disulfide oxidoreductase activity|protein disulfide oxidoreductase activity|protein N-terminus binding			endometrium(3)|large_intestine(1)|lung(1)	5		all_cancers(142;3.38e-06)|all_epithelial(76;5.66e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;2.62e-16)	Glutathione(DB00143)	AGGTGGGCTTGATGAACACAA	0.547000													19	29					0	0	1	0	0
LIG1	3978	broad.mit.edu	37	19	48660322	48660322	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:48660322C>T	ENST00000263274.7	-	5	738	c.319G>A	c.(319-321)Gac>Aac	p.D107N	LIG1_ENST00000536218.1_Missense_Mutation_p.D107N|LIG1_ENST00000427526.2_Missense_Mutation_p.D77N|LIG1_ENST00000599165.1_Intron	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	107					anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding			breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	GGAGAGGTGTCAGAGAGGGAA	0.582000								Nucleotide excision repair (NER)					20	136					0	0	1	0	0
PISD	23761	broad.mit.edu	37	22	32016599	32016599	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr22:32016599G>T	ENST00000382151.2	-	7	1262	c.843C>A	c.(841-843)ttC>ttA	p.F281L	PISD_ENST00000478893.1_5'UTR|PISD_ENST00000266095.5_Missense_Mutation_p.F281L|PISD_ENST00000397500.1_Intron|PISD_ENST00000336566.4_Missense_Mutation_p.F314L|PISD_ENST00000439502.2_Missense_Mutation_p.F315L			Q9UG56	PISD_HUMAN	phosphatidylserine decarboxylase	315					phospholipid biosynthetic process	mitochondrion	phosphatidylserine decarboxylase activity			central_nervous_system(3)|endometrium(2)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	12					Phosphatidylserine(DB00144)	TCAGTGAGAAGAAGCCATGTT	0.587000													13	24					3.03607e-14	3.32659e-14	1	1	0
MYO7B	4648	broad.mit.edu	37	2	128367562	128367562	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:128367562C>G	ENST00000389524.4	+	24	3216	c.3163C>G	c.(3163-3165)Cag>Gag	p.Q1055E	MYO7B_ENST00000428314.1_Missense_Mutation_p.Q1055E|MYO7B_ENST00000409816.2_Missense_Mutation_p.Q1055E			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1055	MyTH4 1.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GCACGGTGCCCAGGTTCCACA	0.657000													5	11					0	0	1	0	0
ANLN	54443	broad.mit.edu	37	7	36438741	36438741	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr7:36438741G>A	ENST00000265748.2	+	3	447	c.226G>A	c.(226-228)Gaa>Aaa	p.E76K	ANLN_ENST00000396068.2_Missense_Mutation_p.E76K	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	76	Interaction with CD2AP.|Nuclear localization.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						TGACAACACTGAAGTAGAAGT	0.373000													11	31					0	0	1	0	0
SLAIN2	57606	broad.mit.edu	37	4	48371957	48371957	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr4:48371957C>T	ENST00000264313.6	+	2	899	c.481C>T	c.(481-483)Cct>Tct	p.P161S	SLAIN2_ENST00000506375.1_3'UTR	NM_020846.1	NP_065897.1	Q9P270	SLAI2_HUMAN	SLAIN motif family, member 2	161						centrosome				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)	13						TTACCCAAGTCCTGATGTTGA	0.358000													8	45					0	0	1	0	0
ABHD17B	51104	broad.mit.edu	37	9	74489886	74489886	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr9:74489886C>T	ENST00000333421.6	-	2	222	c.111G>A	c.(109-111)ctG>ctA	p.L37L	ABHD17B_ENST00000377041.2_Silent_p.L37L	NM_001025780.1	NP_001020951.1			abhydrolase domain containing 17B																		CATCACACATCAGTGTGTAAG	0.428000													7	74					0	0	1	0	0
PCDHB5	26167	broad.mit.edu	37	5	140516663	140516663	+	Silent	SNP	G	G	A	rs149096993		TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr5:140516663G>A	ENST00000231134.5	+	1	1864	c.1647G>A	c.(1645-1647)ctG>ctA	p.L549L		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		549	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCGCGTGCTGGTGCTGGACG	0.721000													21	37					0	0	1	0	0
MAGEE1	57692	broad.mit.edu	37	X	75649791	75649791	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chrX:75649791C>A	ENST00000361470.2	+	1	1746	c.1468C>A	c.(1468-1470)Cct>Act	p.P490T		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	490						dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						GCCCCAAGACCCTATGGAACA	0.483000													9	26					2.17888e-05	2.25685e-05	1	1	0
RNF31	55072	broad.mit.edu	37	14	24617000	24617000	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr14:24617000G>A	ENST00000324103.6	+	1	413	c.93G>A	c.(91-93)ctG>ctA	p.L31L	RNF31_ENST00000559275.1_Intron|RNF31_ENST00000557878.1_Intron	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31	31	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			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)		CGTTTTCCCTGGAGCAGCTCC	0.706000													2	0					0	0	1	0	0
TYK2	7297	broad.mit.edu	37	19	10476364	10476364	+	Silent	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:10476364C>G	ENST00000525621.1	-	7	1321	c.840G>C	c.(838-840)ctG>ctC	p.L280L	TYK2_ENST00000264818.6_Silent_p.L280L|TYK2_ENST00000529370.1_Silent_p.L280L|TYK2_ENST00000524462.1_Silent_p.L95L	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	280	FERM.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			CCAGCAGCCTCAGGTGGCACA	0.687000													16	30					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3229461	3229461	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chrX:3229461C>T	ENST00000217939.6	-	7	6937	c.6783G>A	c.(6781-6783)ctG>ctA	p.L2261L		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2261	Ig-like C2-type 7.					extracellular region				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)				AGTCCACTTTCAGGTCACCCC	0.557000													35	35					0	0	1	0	0
CLUL1	27098	broad.mit.edu	37	18	641518	641518	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr18:641518G>C	ENST00000581619.1	+	7	2108	c.1261G>C	c.(1261-1263)Gag>Cag	p.E421Q	CLUL1_ENST00000400606.2_Missense_Mutation_p.E396Q|CLUL1_ENST00000338387.7_Missense_Mutation_p.E396Q|CLUL1_ENST00000540035.1_Missense_Mutation_p.E448Q|C18orf56_ENST00000585033.1_Intron|CLUL1_ENST00000579494.1_Missense_Mutation_p.E396Q			Q15846	CLUL1_HUMAN	clusterin-like 1 (retinal)	396					cell death	extracellular region				NS(1)|breast(1)|endometrium(5)|large_intestine(5)|liver(2)|lung(7)|ovary(2)|skin(1)	24						CCCAGAAACAGAGATCATCTT	0.458000													20	29					0	0	1	0	0
ATP6V1A	523	broad.mit.edu	37	3	113500007	113500007	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:113500007C>G	ENST00000273398.3	+	3	301	c.193C>G	c.(193-195)Cag>Gag	p.Q65E	ATP6V1A_ENST00000538620.1_Missense_Mutation_p.Q32E	NM_001690.3	NP_001681.2	P38606	VATA_HUMAN	ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A	65					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GGCTACTATTCAGGTGTATGA	0.448000													36	107					0	0	1	0	0
GTPBP3	84705	broad.mit.edu	37	19	17452366	17452366	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:17452366C>G	ENST00000324894.8	+	9	1401	c.1333C>G	c.(1333-1335)Ctc>Gtc	p.L445V	GTPBP3_ENST00000600625.1_Missense_Mutation_p.L424V|GTPBP3_ENST00000598038.1_3'UTR|GTPBP3_ENST00000361619.5_Missense_Mutation_p.L467V|GTPBP3_ENST00000358792.7_Missense_Mutation_p.L477V	NM_032620.3|NM_133644.3	NP_116009.2|NP_598399.2	Q969Y2	GTPB3_HUMAN	GTP binding protein 3 (mitochondrial)	445					tRNA modification	mitochondrion	GTP binding|GTPase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	18						CCTGGATGCCCTCGGCCACTA	0.667000													20	55					0	0	1	0	0
HJURP	55355	broad.mit.edu	37	2	234749322	234749322	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:234749322C>G	ENST00000411486.2	-	8	2169	c.2104G>C	c.(2104-2106)Gat>Cat	p.D702H	HJURP_ENST00000441687.1_Missense_Mutation_p.D617H|HJURP_ENST00000432087.1_Missense_Mutation_p.D648H	NM_018410.3	NP_060880.3	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	702					cell cycle|CenH3-containing nucleosome assembly at centromere|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly	condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm	DNA binding|histone binding			NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		TCCACCCCATCTGAGGCACCC	0.577000													28	36					0	0	1	0	0
SLC32A1	140679	broad.mit.edu	37	20	37353648	37353648	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr20:37353648C>T	ENST00000217420.1	+	1	544	c.281C>T	c.(280-282)cCg>cTg	p.P94L		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	94					neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	GCTCCTCTGCCGCCCTCCGGC	0.662000													13	45					0	0	1	0	0
LHFPL5	222662	broad.mit.edu	37	6	35773514	35773514	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr6:35773514C>T	ENST00000360215.1	+	1	444	c.67C>T	c.(67-69)Cga>Tga	p.R23*	LHFPL5_ENST00000373853.1_Nonsense_Mutation_p.R23*	NM_182548.3	NP_872354.1	Q8TAF8	TMHS_HUMAN	lipoma HMGIC fusion partner-like 5	23						integral to membrane				endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1)	20						GCGGAACTCGCGAGCCGTGGG	0.617000													24	59					0	0	1	0	0
VWA9	81556	broad.mit.edu	37	15	65899746	65899746	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr15:65899746C>T	ENST00000567744.1	-	2	453	c.81G>A	c.(79-81)ctG>ctA	p.L27L	VWA9_ENST00000431261.2_5'UTR|VWA9_ENST00000420799.2_Intron|VWA9_ENST00000442903.3_5'UTR|VWA9_ENST00000395644.4_5'UTR|VWA9_ENST00000313182.2_5'UTR|VWA9_ENST00000569491.1_5'UTR					von Willebrand factor A domain containing 9																		TGTTCCCAATCAGAATGCAAA	0.398000													6	15					0	0	1	0	0
FAM65B	9750	broad.mit.edu	37	6	24843425	24843425	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr6:24843425C>G	ENST00000259698.4	-	14	1760	c.1585G>C	c.(1585-1587)Gag>Cag	p.E529Q	FAM65B_ENST00000510784.2_Missense_Mutation_p.E513Q|FAM65B_ENST00000538035.1_Missense_Mutation_p.E508Q|FAM65B_ENST00000540914.1_Missense_Mutation_p.E479Q|FAM65B_ENST00000378023.4_Missense_Mutation_p.E479Q	NM_014722.2	NP_055537.2	Q9Y4F9	FA65B_HUMAN	family with sequence similarity 65, member B	529					cell differentiation|muscle organ development	cytoskeleton|filopodium|mitochondrion	binding	p.E479Q(1)|p.E529Q(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						AACAGGTGCTCAGCCCCAGCA	0.572000													18	68					0	0	1	0	0
SLC36A3	285641	broad.mit.edu	37	5	150660605	150660605	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr5:150660605A>G	ENST00000335230.3	-	9	1525	c.1114T>C	c.(1114-1116)Tct>Cct	p.S372P	SLC36A3_ENST00000377713.3_Missense_Mutation_p.S413P	NM_181774.3	NP_861439.3	Q495N2	S36A3_HUMAN	solute carrier family 36, member 3	372						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	21		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAGCGGACAGACAGGTCTACA	0.552000													19	23					0	0	1	0	0
SOWAHD	347454	broad.mit.edu	37	X	118893473	118893473	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chrX:118893473G>C	ENST00000343905.3	+	1	898	c.843G>C	c.(841-843)agG>agC	p.R281S		NM_001105576.2	NP_001099046.1	A6NJG2	ANR58_HUMAN	sosondowah ankyrin repeat domain family member D	281								p.R357S(1)									AGACAAGCAGGAGAGTGGCAG	0.657000													4	9					0	0	1	0	0
NXNL1	115861	broad.mit.edu	37	19	17571379	17571379	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:17571379G>T	ENST00000301944.2	-	1	384	c.300C>A	c.(298-300)ttC>ttA	p.F100L	CTD-2521M24.10_ENST00000594663.1_Missense_Mutation_p.F7L	NM_138454.1	NP_612463.1	Q96CM4	NXNL1_HUMAN	nucleoredoxin-like 1	100	Thioredoxin.				cell redox homeostasis	nuclear outer membrane				central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	6						CAAAGGGCAGGAAAAGCCATT	0.577000													26	28					6.38683e-12	6.94685e-12	1	1	0
BTAF1	9044	broad.mit.edu	37	10	93699793	93699793	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr10:93699793G>C	ENST00000265990.6	+	3	531	c.223G>C	c.(223-225)Gag>Cag	p.E75Q		NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	75					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				AAATGTACCTGAGTGGAATCC	0.353000													8	14					0	0	1	0	0
NLRP7	199713	broad.mit.edu	37	19	55435133	55435133	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:55435133G>T	ENST00000588756.1	-	13	3575	c.3089C>A	c.(3088-3090)cCt>cAt	p.P1030H	NLRP7_ENST00000340844.2_Missense_Mutation_p.P973H|NLRP7_ENST00000448121.2_Missense_Mutation_p.P1002H|NLRP7_ENST00000446217.1_Missense_Mutation_p.P1058H|NLRP7_ENST00000328092.5_Missense_Mutation_p.P1002H|NLRP7_ENST00000592784.1_Missense_Mutation_p.P1030H|NLRP7_ENST00000590030.1_Missense_Mutation_p.P973H			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	0							ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		ACAGCACGGAGGTGCCGTTGC	0.463000													42	82					2.24893e-16	2.48503e-16	1	1	0
BCAN	63827	broad.mit.edu	37	1	156622477	156622477	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:156622477C>T	ENST00000329117.5	+	8	2071	c.1735C>T	c.(1735-1737)Cga>Tga	p.R579*	RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Nonsense_Mutation_p.R579*	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican						cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TGGGGTCCCTCGAGGAGAGAG	0.642000													24	32					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20998710	20998710	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr16:20998710G>C	ENST00000261383.3	-	47	6942	c.6943C>G	c.(6943-6945)Ctg>Gtg	p.L2315V	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2315					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TTGTCAATCAGACGATCATAG	0.413000													42	75					0	0	1	0	0
UBE2G1	7326	broad.mit.edu	37	17	4200037	4200037	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:4200037G>A	ENST00000396981.2	-	3	387	c.222C>T	c.(220-222)ttC>ttT	p.F74F	UBE2G1_ENST00000572484.1_Silent_p.F3F	NM_003342.4	NP_003333.1	P62253	UB2G1_HUMAN	ubiquitin-conjugating enzyme E2G 1	74					protein K48-linked ubiquitination|protein K63-linked ubiquitination|ubiquitin-dependent protein catabolic process		ATP binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity			large_intestine(2)|lung(4)|skin(1)	7						TTTCTGTAATGAATTTCATTT	0.348000													126	17					0	0	1	0	0
MEOX2	4223	broad.mit.edu	37	7	15666538	15666538	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr7:15666538G>A	ENST00000262041.5	-	2	932	c.523C>T	c.(523-525)Cag>Tag	p.Q175*		NM_005924.4	NP_005915.2	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	175					blood circulation|multicellular organismal development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		TTTCCTTCCTGGGAGTCTGAA	0.363000													14	60					0	0	1	0	0
NDUFAF7	55471	broad.mit.edu	37	2	37473327	37473327	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:37473327G>C	ENST00000002125.4	+	8	965	c.925G>C	c.(925-927)Gat>Cat	p.D309H	NDUFAF7_ENST00000336237.6_Missense_Mutation_p.D211H|NDUFAF7_ENST00000483999.1_3'UTR	NM_144736.4	NP_653337.1			NADH dehydrogenase (ubiquinone) complex I, assembly factor 7																		AACAAAGACAGATACCTTCAG	0.403000													15	92					0	0	1	0	0
PPP1R26	9858	broad.mit.edu	37	9	138378236	138378236	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr9:138378236G>A	ENST00000356818.2	+	4	2429	c.1880G>A	c.(1879-1881)aGa>aAa	p.R627K	PPP1R26_ENST00000604351.1_Missense_Mutation_p.R627K|PPP1R26_ENST00000605286.1_Missense_Mutation_p.R627K|PPP1R26_ENST00000401470.3_Missense_Mutation_p.R627K|PPP1R26_ENST00000605660.1_Missense_Mutation_p.R627K|PPP1R26_ENST00000602993.1_Intron	NM_014811.3	NP_055626.3	Q5T8A7	K0649_HUMAN	protein phosphatase 1, regulatory subunit 26	627						nucleolus	protein binding										AGCCAGGGGAGAGCTGAGCCC	0.662000													4	41					0	0	1	0	0
NOP2	4839	broad.mit.edu	37	12	6672897	6672897	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:6672897C>G	ENST00000541778.1	-	7	1047	c.559G>C	c.(559-561)Gag>Cag	p.E187Q	NOP2_ENST00000382421.3_Missense_Mutation_p.E224Q|NOP2_ENST00000545200.1_Missense_Mutation_p.E187Q|NOP2_ENST00000322166.5_Missense_Mutation_p.E191Q|NOP2_ENST00000399466.2_Missense_Mutation_p.E187Q|NOP2_ENST00000537442.1_Missense_Mutation_p.E191Q|NOP2_ENST00000542015.1_Intron			P46087	NOP2_HUMAN	NOP2 nucleolar protein	191					positive regulation of cell proliferation|rRNA processing	nucleolus	protein binding|RNA binding|S-adenosylmethionine-dependent methyltransferase activity			breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	19						ACTTCTTTCTCTTCCTCCTCG	0.547000											OREG0021630	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	25					0	0	1	0	0
PRODH	5625	broad.mit.edu	37	22	18918658	18918658	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr22:18918658C>A	ENST00000357068.6	-	2	592	c.327G>T	c.(325-327)atG>atT	p.M109I	PRODH_ENST00000334029.2_Start_Codon_SNP_p.M1I|PRODH_ENST00000420436.1_Start_Codon_SNP_p.M1I	NM_016335.4	NP_057419	O43272	PROD_HUMAN	proline dehydrogenase (oxidase) 1	109					glutamate biosynthetic process|induction of apoptosis by oxidative stress|proline catabolic process	mitochondrial inner membrane|mitochondrial matrix	proline dehydrogenase activity			breast(1)|endometrium(3)|lung(4)|upper_aerodigestive_tract(1)	9					L-Proline(DB00172)	AGGTCATCTTCATGAGCTTGT	0.557000													17	37					5.3912e-06	5.60642e-06	1	1	0
ZFP69	339559	broad.mit.edu	37	1	40961190	40961190	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:40961190G>A	ENST00000372706.1	+	6	2046	c.1040G>A	c.(1039-1041)aGa>aAa	p.R347K	ZFP69_ENST00000372705.3_Missense_Mutation_p.R347K|RP11-656D10.3_ENST00000450713.1_RNA					ZFP69 zinc finger protein																		CAGCATCATAGAACTCACACT	0.433000													25	71					0	0	1	0	0
DOT1L	84444	broad.mit.edu	37	19	2217074	2217074	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:2217074G>C	ENST00000398665.3	+	21	2565	c.2529G>C	c.(2527-2529)gaG>gaC	p.E843D		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	843						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TTGCTGGAGAGAAGAGCAGTG	0.687000													6	16					0	0	1	0	0
AMIGO2	347902	broad.mit.edu	37	12	47472633	47472633	+	Silent	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:47472633G>T	ENST00000266581.4	-	2	619	c.153C>A	c.(151-153)atC>atA	p.I51I	AMIGO2_ENST00000550413.1_Silent_p.I51I|AMIGO2_ENST00000321382.3_Silent_p.I51I|AMIGO2_ENST00000429635.1_Silent_p.I51I	NM_181847.4	NP_862830.1	Q86SJ2	AMGO2_HUMAN	adhesion molecule with Ig-like domain 2	51	LRRNT.				heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane				endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Renal(347;0.138)|Lung SC(27;0.192)					TGCAGCTGACGATGTCAGTGG	0.542000													33	62					1.56442e-22	1.75282e-22	1	1	0
CNNM4	26504	broad.mit.edu	37	2	97427901	97427901	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:97427901G>A	ENST00000377075.2	+	1	1263	c.1165G>A	c.(1165-1167)Gat>Aat	p.D389N		NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin M4	389	CBS 1.				biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						GATCCGCAGCGATGCCATCCT	0.498000													12	89					0	0	1	0	0
ADAT1	23536	broad.mit.edu	37	16	75646313	75646313	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr16:75646313C>T	ENST00000307921.3	-	7	1016	c.871G>A	c.(871-873)Gga>Aga	p.G291R		NM_012091.3	NP_036223.2	Q9BUB4	ADAT1_HUMAN	adenosine deaminase, tRNA-specific 1	291	A to I editase.				tRNA processing		metal ion binding|RNA binding|tRNA-specific adenosine deaminase activity			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)	19						GTTCTGTCTCCACGGCCTGGC	0.587000													17	77					0	0	1	0	0
GPR119	139760	broad.mit.edu	37	X	129519381	129519381	+	Missense_Mutation	SNP	A	A	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chrX:129519381A>C	ENST00000276218.2	-	1	130	c.41T>G	c.(40-42)cTg>cGg	p.L14R		NM_178471.2	NP_848566.1	Q8TDV5	GP119_HUMAN	G protein-coupled receptor 119	14						integral to membrane|plasma membrane	lipid binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(1)	11						GAGGGAGGCCAGGACAGCAAG	0.483000													68	136					0	0	1	0	0
NPAT	4863	broad.mit.edu	37	11	108032032	108032032	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr11:108032032C>T	ENST00000278612.8	-	17	3886	c.3781G>A	c.(3781-3783)Gat>Aat	p.D1261N		NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	1261					positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		TCACTACTATCAGCAAGCCTA	0.448000													89	85					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32021354	32021354	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr6:32021354C>T	ENST00000375244.3	-	25	8803	c.8602G>A	c.(8602-8604)Gag>Aag	p.E2868K	TNXB_ENST00000375247.2_Missense_Mutation_p.E2866K			P22105	TENX_HUMAN	tenascin XB	2915	Fibronectin type-III 20.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						AACTGGCCCTCGGGGACCATC	0.667000													3	41					0	0	1	0	0
ZBTB40	9923	broad.mit.edu	37	1	22852749	22852749	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:22852749G>C	ENST00000404138.1	+	19	4091	c.3580G>C	c.(3580-3582)Gag>Cag	p.E1194Q	ZBTB40_ENST00000374651.4_Missense_Mutation_p.E1082Q|ZBTB40_ENST00000375647.4_Missense_Mutation_p.E1194Q	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	1194					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		CACTTTGGAGGAGACCCAGCT	0.587000													19	78					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103488306	103488306	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:103488306C>T	ENST00000358392.2	-	8	1590	c.1273G>A	c.(1273-1275)Gaa>Aaa	p.E425K	COL11A1_ENST00000370096.3_Missense_Mutation_p.E413K|COL11A1_ENST00000512756.1_Intron|COL11A1_ENST00000353414.4_Missense_Mutation_p.E374K	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	413	Triple-helical region (interrupted).				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		ACGCTTGTTTCTGTAATATCA	0.328000													26	45					0	0	1	0	0
UBE2V2	7336	broad.mit.edu	37	8	48973350	48973350	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr8:48973350C>G	ENST00000523111.2	+	4	455	c.400C>G	c.(400-402)Ctt>Gtt	p.L134V	UBE2V2_ENST00000521346.1_Missense_Mutation_p.L94V|UBE2V2_ENST00000517630.1_Missense_Mutation_p.L94V|UBE2V2_ENST00000520809.1_Missense_Mutation_p.L94V	NM_003350.2	NP_003341.1	Q15819	UB2V2_HUMAN	ubiquitin-conjugating enzyme E2 variant 2	134					cell proliferation|DNA double-strand break processing|protein polyubiquitination|regulation of DNA repair	cytoplasm|nucleus|UBC13-MMS2 complex	acid-amino acid ligase activity|protein binding			large_intestine(1)|lung(2)	3		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00171)|all_lung(136;0.00196)				AAATATGAAGCTTCCACAGCC	0.353000								Rad6 pathway					13	79					0	0	1	0	0
TIMELESS	8914	broad.mit.edu	37	12	56818562	56818562	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:56818562G>C	ENST00000229201.4	-	15	2003	c.1849C>G	c.(1849-1851)Ctc>Gtc	p.L617V	TIMELESS_ENST00000554616.1_Intron|TIMELESS_ENST00000553532.1_Missense_Mutation_p.L618V	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN	timeless circadian clock	618					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						GACCTCAGGAGAGTCAGGGCC	0.597000													38	57					0	0	1	0	0
RHBDF1	64285	broad.mit.edu	37	16	111597	111597	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr16:111597C>T	ENST00000262316.6	-	9	1448	c.1306G>A	c.(1306-1308)Gag>Aag	p.E436K	RHBDF1_ENST00000454039.2_Missense_Mutation_p.E436K	NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN	rhomboid 5 homolog 1 (Drosophila)	436					cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				TCCACCGTCTCATGCTGCGAG	0.657000													28	49					0	0	1	0	0
TAGAP	117289	broad.mit.edu	37	6	159457377	159457377	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr6:159457377C>G	ENST00000367066.3	-	10	2009	c.1678G>C	c.(1678-1680)Gaa>Caa	p.E560Q	RP1-111C20.4_ENST00000607796.1_RNA|RP1-111C20.4_ENST00000606466.1_RNA|TAGAP_ENST00000326965.6_Missense_Mutation_p.E382Q|RP1-111C20.4_ENST00000606470.1_RNA|RP1-111C20.4_ENST00000607391.1_RNA	NM_001278733.1|NM_054114.3	NP_001265662.1|NP_473455.2	Q8N103	TAGAP_HUMAN	T-cell activation RhoGTPase activating protein	560					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity			NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		TTGTGGGTTTCACACCCATTT	0.607000													7	38					0	0	1	0	0
PRPF8	10594	broad.mit.edu	37	17	1564962	1564962	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:1564962G>C	ENST00000572621.1	-	25	4410	c.4145C>G	c.(4144-4146)tCt>tGt	p.S1382C	PRPF8_ENST00000304992.6_Missense_Mutation_p.S1382C			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1382						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		GACCCGCTGAGAATCAATGAA	0.552000													47	6					0	0	1	0	0
ARTN	9048	broad.mit.edu	37	1	44401689	44401689	+	Silent	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:44401689C>A	ENST00000438616.3	+	1	211	c.36C>A	c.(34-36)ctC>ctA	p.L12L	ARTN_ENST00000414809.3_Intron|ARTN_ENST00000479128.1_Intron|ARTN_ENST00000472435.1_Intron|ARTN_ENST00000372354.3_Intron|ARTN_ENST00000498139.2_Intron|ARTN_ENST00000372359.5_Intron			Q5T4W7	ARTN_HUMAN	artemin	0					axon guidance|neuroblast proliferation|signal transduction	extracellular region	growth factor activity					Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				GACAGCCCCTCCTTGAGGTCC	0.642000													4	12					5.9392e-07	6.23855e-07	1	1	0
HHLA2	11148	broad.mit.edu	37	3	108074154	108074154	+	Nonsense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:108074154C>G	ENST00000357759.5	+	5	1025	c.611C>G	c.(610-612)tCa>tGa	p.S204*	HHLA2_ENST00000467562.1_Nonsense_Mutation_p.S140*|HHLA2_ENST00000467761.1_Nonsense_Mutation_p.S204*|HHLA2_ENST00000489514.2_Nonsense_Mutation_p.S204*|HHLA2_ENST00000491820.1_Nonsense_Mutation_p.S204*	NM_007072.2	NP_009003.1	Q9UM44	HHLA2_HUMAN	HERV-H LTR-associating 2	204	Ig-like C1-type.					integral to membrane				endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						ATTACAGGATCAAATTCATCT	0.403000													52	32					0	0	1	0	0
ZNF318	24149	broad.mit.edu	37	6	43322436	43322436	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr6:43322436G>C	ENST00000361428.2	-	4	2713	c.2636C>G	c.(2635-2637)tCt>tGt	p.S879C	ZNF318_ENST00000318149.3_Missense_Mutation_p.S879C	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	879					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CTTCTCATCAGAGATCTTCTC	0.438000													67	5					0	0	1	0	0
TGIF2	60436	broad.mit.edu	37	20	35207317	35207317	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr20:35207317C>A	ENST00000373874.2	+	2	339	c.140C>A	c.(139-141)tCa>tAa	p.S47*	TGIF2-C20orf24_ENST00000558530.1_Nonsense_Mutation_p.S47*|TGIF2_ENST00000373872.4_Nonsense_Mutation_p.S47*|RP5-977B1.11_ENST00000561134.1_RNA	NM_001199514.1|NM_001199515.1	NP_001186443.1|NP_001186444.1	Q9GZN2	TGIF2_HUMAN	TGFB-induced factor homeobox 2	47						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(3)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				GCCTACCCCTCAGAGCAGGAG	0.597000													12	83					0.000151284	0.000155615	1	1	0
ZNF767	79970	broad.mit.edu	37	7	149318248	149318248	+	RNA	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr7:149318248C>G	ENST00000463567.1	-	0	486					NR_027788.1				zinc finger family member 767											central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)	5	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00434)			GCCACATCATCAAATGTCATA	0.607000													35	40					0	0	1	0	0
DDX23	9416	broad.mit.edu	37	12	49226345	49226345	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:49226345G>A	ENST00000308025.3	-	14	1894	c.1815C>T	c.(1813-1815)ttC>ttT	p.F605F		NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	605	Helicase ATP-binding.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding			NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						TGGTGGCCGTGAACATGACTG	0.587000													9	41					0	0	1	0	0
NCOA1	8648	broad.mit.edu	37	2	24952432	24952432	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:24952432C>G	ENST00000405141.1	+	18	3660	c.2949C>G	c.(2947-2949)atC>atG	p.I983M	NCOA1_ENST00000395856.3_Missense_Mutation_p.I983M|NCOA1_ENST00000406961.1_Missense_Mutation_p.I983M|NCOA1_ENST00000348332.3_Missense_Mutation_p.I983M|NCOA1_ENST00000407230.1_Missense_Mutation_p.I832M|NCOA1_ENST00000538539.1_Missense_Mutation_p.I983M|NCOA1_ENST00000288599.5_Missense_Mutation_p.I983M			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	983	Interaction with CREBBP.								PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACCTTTGATCATGGAAGAAA	0.428000			T	PAX3	alveolar rhadomyosarcoma								29	154					0	0	1	0	0
CCR8	1237	broad.mit.edu	37	3	39374656	39374656	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:39374656G>A	ENST00000326306.4	+	2	972	c.834G>A	c.(832-834)ctG>ctA	p.L278L	CCR8_ENST00000414803.1_3'UTR|CCR8_ENST00000545843.1_Silent_p.L195L	NM_005201.3	NP_005192.1	P51685	CCR8_HUMAN	chemokine (C-C motif) receptor 8	278					cell adhesion|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	coreceptor activity			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)		GCCAACAGCTGACTTATGCCA	0.433000													26	30					0	0	1	0	0
UNC13D	201294	broad.mit.edu	37	17	73830498	73830498	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:73830498G>A	ENST00000207549.4	-	23	2585	c.2206C>T	c.(2206-2208)Cag>Tag	p.Q736*	UNC13D_ENST00000412096.2_Nonsense_Mutation_p.Q736*	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	736					positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			TTCTGCAGCTGCCCCTGCTCC	0.692000									Familial Hemophagocytic Lymphohistiocytosis				10	3					0	0	1	0	0
C15orf52	388115	broad.mit.edu	37	15	40632197	40632197	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr15:40632197G>A	ENST00000559313.1	-	2	179	c.164C>T	c.(163-165)tCc>tTc	p.S55F	C15orf52_ENST00000557973.1_5'UTR	NM_207380.2	NP_997263.2	Q6ZUT6	CO052_HUMAN	chromosome 15 open reading frame 52	55										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		GCTCATGGGGGACTCGGCTCT	0.612000													18	9					0	0	1	0	0
METTL18	92342	broad.mit.edu	37	1	169762167	169762167	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:169762167C>G	ENST00000310392.4	-	2	1023	c.670G>C	c.(670-672)Gat>Cat	p.D224H	C1orf112_ENST00000498289.1_Intron|METTL18_ENST00000303469.2_Missense_Mutation_p.D224H	NM_033418.2	NP_219486.1	O95568	MET18_HUMAN	methyltransferase like 18	224						cytoplasm	protein methyltransferase activity			kidney(1)|large_intestine(3)|lung(4)	8						GTTACTTCATCAATCACCATA	0.373000													35	173					0	0	1	0	0
ATMIN	23300	broad.mit.edu	37	16	81078303	81078303	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr16:81078303G>T	ENST00000566488.1	+	3	2695	c.1732G>T	c.(1732-1734)Gat>Tat	p.D578Y	ATMIN_ENST00000564241.1_Missense_Mutation_p.D578Y|ATMIN_ENST00000299575.4_Missense_Mutation_p.D734Y|ATMIN_ENST00000539819.1_3'UTR			O43313	ATMIN_HUMAN	ATM interactor	734					response to DNA damage stimulus	nucleus	zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						CGTGAGTACTGATTCATCTGA	0.428000													37	221					3.76114e-14	4.11671e-14	1	1	0
PMEL	6490	broad.mit.edu	37	12	56351734	56351734	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:56351734G>C	ENST00000548747.1	-	5	1266	c.604C>G	c.(604-606)Cat>Gat	p.H202D	PMEL_ENST00000552882.1_Missense_Mutation_p.H202D|PMEL_ENST00000550447.1_Intron|PMEL_ENST00000449260.2_Missense_Mutation_p.H202D|PMEL_ENST00000548689.1_5'UTR|PMEL_ENST00000360714.4_Missense_Mutation_p.H202D|PMEL_ENST00000550464.1_Missense_Mutation_p.H116D|PMEL_ENST00000539511.1_Missense_Mutation_p.H116D|PMEL_ENST00000536427.1_Missense_Mutation_p.H202D|PMEL_ENST00000548493.1_Missense_Mutation_p.H202D			P40967	PMEL_HUMAN	premelanosome protein	202					melanin biosynthetic process|melanosome organization	endoplasmic reticulum membrane|extracellular region|Golgi apparatus|integral to membrane|melanosome|multivesicular body membrane|plasma membrane	protein binding			NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GAGCTGGAATGAGCAAGAGGC	0.572000													31	50					0	0	1	0	0
TCF12	6938	broad.mit.edu	37	15	57544631	57544631	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr15:57544631G>C	ENST00000438423.2	+	15	1497	c.1201G>C	c.(1201-1203)Gag>Cag	p.E401Q	TCF12_ENST00000557843.1_Intron|TCF12_ENST00000333725.5_Missense_Mutation_p.E401Q|TCF12_ENST00000560764.1_Intron|TCF12_ENST00000537840.1_Intron|TCF12_ENST00000343827.3_Intron|TCF12_ENST00000452095.2_Missense_Mutation_p.E397Q|TCF12_ENST00000559710.1_Intron|TCF12_ENST00000267811.5_Intron|TCF12_ENST00000559703.1_Missense_Mutation_p.E35Q|TCF12_ENST00000543579.1_Missense_Mutation_p.E231Q	NM_207036.1|NM_207037.1	NP_996919.1|NP_996920.1	Q99081	HTF4_HUMAN	transcription factor 12	396					immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		AAATCGAGTTGAGCAGCAACT	0.398000			T	TEC	extraskeletal myxoid chondrosarcoma								19	26					0	0	1	0	0
CCNB3	85417	broad.mit.edu	37	X	50053381	50053381	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chrX:50053381G>A	ENST00000376042.1	+	6	2510	c.2212G>A	c.(2212-2214)Gag>Aag	p.E738K	CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.E738K			Q8WWL7	CCNB3_HUMAN	cyclin B3	738					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					GCTTTCTGCTGAGGCAGCCAC	0.428000													29	1					0	0	1	0	0
NRP2	8828	broad.mit.edu	37	2	206659622	206659622	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:206659622T>C	ENST00000360409.3	+	17	3427	c.2636T>C	c.(2635-2637)cTg>cCg	p.L879P	NRP2_ENST00000540841.1_Missense_Mutation_p.L857P|NRP2_ENST00000412873.2_Missense_Mutation_p.L857P|NRP2_ENST00000540178.1_Missense_Mutation_p.L874P|NRP2_ENST00000357785.5_Missense_Mutation_p.L874P	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718|NP_958436.1	O60462	NRP2_HUMAN	neuropilin 2	879					angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						GGCGTCCTCCTGGGGGCCACC	0.612000													25	27					0	0	1	0	0
LMAN1L	79748	broad.mit.edu	37	15	75108987	75108987	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr15:75108987C>T	ENST00000309664.5	+	4	592	c.453C>T	c.(451-453)atC>atT	p.I151I	LMAN1L_ENST00000379709.3_Silent_p.I151I	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	151	L-type lectin-like.					ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GTCCTGCCATCCGTGTGCTGG	0.672000													5	47					0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40368511	40368511	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:40368511G>A	ENST00000221347.6	-	28	12844	c.12837C>T	c.(12835-12837)ttC>ttT	p.F4279F		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4279	VWFD 10.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GGGGTCCGCAGAAGCCAGGGC	0.642000													9	29					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64467418	64467418	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr14:64467418C>T	ENST00000358025.3	+	28	3849	c.3619C>T	c.(3619-3621)Cag>Tag	p.Q1207*	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Nonsense_Mutation_p.Q1207*|SYNE2_ENST00000554584.1_Nonsense_Mutation_p.Q1207*	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1207					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AAGAGAGCTTCAGATGACTCT	0.299000													17	29					0	0	1	0	0
BTBD9	114781	broad.mit.edu	37	6	38561774	38561774	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr6:38561774A>G	ENST00000481247.1	-	3	666	c.515T>C	c.(514-516)gTc>gCc	p.V172A	BTBD9_ENST00000403056.1_Missense_Mutation_p.V172A|BTBD9_ENST00000314100.6_Missense_Mutation_p.V104A|BTBD9_ENST00000408958.1_Missense_Mutation_p.V104A|BTBD9_ENST00000419706.2_Missense_Mutation_p.V113A	NM_001099272.1|NM_052893.1	NP_001092742.1|NP_443125.1	Q96Q07	BTBD9_HUMAN	BTB (POZ) domain containing 9	172	BACK.				cell adhesion					breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	12						ACTTGAGAGGACTTCCTGAGC	0.383000													48	137					0	0	1	0	0
IKZF3	22806	broad.mit.edu	37	17	37949123	37949123	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:37949123G>A	ENST00000346872.3	-	4	288	c.227C>T	c.(226-228)cCc>cTc	p.P76L	IKZF3_ENST00000377944.3_Intron|IKZF3_ENST00000377952.2_Intron|IKZF3_ENST00000377945.3_Missense_Mutation_p.P76L|IKZF3_ENST00000351680.3_Missense_Mutation_p.P76L|IKZF3_ENST00000439016.2_Missense_Mutation_p.P76L|IKZF3_ENST00000439167.2_Missense_Mutation_p.P42L|IKZF3_ENST00000346243.3_Missense_Mutation_p.P76L|IKZF3_ENST00000377958.2_Intron|IKZF3_ENST00000394189.2_Intron|IKZF3_ENST00000350532.3_Missense_Mutation_p.P76L|IKZF3_ENST00000467757.1_Missense_Mutation_p.P76L|IKZF3_ENST00000535189.1_Missense_Mutation_p.P42L	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	IKAROS family zinc finger 3 (Aiolos)	76					B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			ATTTCCCATGGGTTCTGACTT	0.353000													29	47					0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73677968	73677968	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:73677968C>G	ENST00000264448.6	+	8	4422	c.4311C>G	c.(4309-4311)ttC>ttG	p.F1437L	ALMS1_ENST00000377715.1_Missense_Mutation_p.F1437L|ALMS1_ENST00000409009.1_Missense_Mutation_p.F1395L	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1437	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CTGGTAGTTTCTACCAACAGG	0.488000													107	180					0	0	1	0	0
LIG1	3978	broad.mit.edu	37	19	48643250	48643250	+	Silent	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:48643250G>C	ENST00000263274.7	-	12	1484	c.1065C>G	c.(1063-1065)ctC>ctG	p.L355L	LIG1_ENST00000536218.1_Silent_p.L287L|LIG1_ENST00000427526.2_Silent_p.L324L	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	355					anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding			breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	CCACTGCCTTGAGAAGGACAC	0.622000								Nucleotide excision repair (NER)					29	123					0	0	1	0	0
MYBBP1A	10514	broad.mit.edu	37	17	4457360	4457360	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:4457360T>C	ENST00000254718.4	-	4	713	c.407A>G	c.(406-408)aAc>aGc	p.N136S	MYBBP1A_ENST00000381556.2_Missense_Mutation_p.N136S			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	136	Interaction with MYB (By similarity).				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						TCCAAACAGGTTTGCAAAGAG	0.592000													47	8					0	0	1	0	0
KCTD18	130535	broad.mit.edu	37	2	201369515	201369515	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:201369515C>T	ENST00000359878.3	-	3	838	c.328G>A	c.(328-330)Gaa>Aaa	p.E110K	KCTD18_ENST00000468413.1_5'UTR|KCTD18_ENST00000409157.1_Missense_Mutation_p.E110K	NM_152387.2	NP_689600.2	Q6PI47	KCD18_HUMAN	potassium channel tetramerization domain containing 18	110						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						GTCTCCATTTCATTGGCCAAA	0.373000													7	30					0	0	1	0	0
SLC13A1	6561	broad.mit.edu	37	7	122839945	122839945	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr7:122839945G>A	ENST00000194130.2	-	1	95	c.56C>T	c.(55-57)aCt>aTt	p.T19I		NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	19						integral to membrane|plasma membrane	sodium:sulfate symporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	AACCAACACAGTGAAAACCAC	0.433000													25	21					0	0	1	0	0
DNAJC14	85406	broad.mit.edu	37	12	56215880	56215880	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:56215880A>G	ENST00000357606.3	-	8	2279	c.1990T>C	c.(1990-1992)Ttt>Ctt	p.F664L	DNAJC14_ENST00000317287.5_Missense_Mutation_p.F664L|RP11-762I7.5_ENST00000552719.1_5'UTR|DNAJC14_ENST00000317269.3_Missense_Mutation_p.F664L|RP11-762I7.5_ENST00000546837.1_Missense_Mutation_p.L293P			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	664					protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding			breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						GGAGCTGCAAAGAAGTTCCCA	0.567000													20	56					0	0	1	0	0
CCDC13	152206	broad.mit.edu	37	3	42793446	42793446	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:42793446C>G	ENST00000310232.6	-	5	668	c.585G>C	c.(583-585)caG>caC	p.Q195H	CCDC13_ENST00000435327.2_5'UTR	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	195										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						TGTCTCCCATCTGGGCCCTCG	0.592000													6	22					0	0	1	0	0
COPS2	9318	broad.mit.edu	37	15	49437194	49437194	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr15:49437194C>T	ENST00000388901.5	-	2	209	c.136G>A	c.(136-138)Gac>Aac	p.D46N	COPS2_ENST00000542928.1_Intron|COPS2_ENST00000299259.6_Missense_Mutation_p.D46N	NM_001143887.1|NM_004236.3	NP_001137359.1|NP_004227.1	P61201	CSN2_HUMAN	COP9 signalosome subunit 2	46					cullin deneddylation|transcription from RNA polymerase II promoter	cytoplasm|signalosome	protein binding|signal transducer activity			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(2)	18		all_lung(180;0.0428)		all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05)		GCTTTTGGGTCATCTTCTTTT	0.323000													27	33					0	0	1	0	0
ARTN	9048	broad.mit.edu	37	1	44401357	44401357	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:44401357C>T	ENST00000414809.3	+	3	811	c.29C>T	c.(28-30)aCg>aTg	p.T10M	ARTN_ENST00000479128.1_Missense_Mutation_p.T10M|ARTN_ENST00000472435.1_Missense_Mutation_p.T10M|ARTN_ENST00000372354.3_Missense_Mutation_p.T10M|ARTN_ENST00000498139.2_Missense_Mutation_p.T10M|ARTN_ENST00000372359.5_Missense_Mutation_p.T10M	NM_057090.2	NP_476431.2	Q5T4W7	ARTN_HUMAN	artemin	10					axon guidance|neuroblast proliferation|signal transduction	extracellular region	growth factor activity					Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				GGCCTCTCCACGCTGTCCCAC	0.597000													7	13					0	0	1	0	0
PSIP1	11168	broad.mit.edu	37	9	15490123	15490123	+	Splice_Site	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr9:15490123C>A	ENST00000380733.4	-	4	493		c.e4-1		PSIP1_ENST00000397519.2_Splice_Site|PSIP1_ENST00000380715.1_Splice_Site|PSIP1_ENST00000380738.4_Splice_Site|PSIP1_ENST00000380716.4_Splice_Site			O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1						initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent	cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|transcriptionally active chromatin	activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity			breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		TAAAAAAGCACTAAAAAAGAA	0.313000													14	1					1.15088e-07	1.21501e-07	1	1	0
GYS1	2997	broad.mit.edu	37	19	49481247	49481247	+	Silent	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:49481247G>C	ENST00000323798.3	-	10	1438	c.1242C>G	c.(1240-1242)ccC>ccG	p.P414P	GYS1_ENST00000540532.1_3'UTR|GYS1_ENST00000263276.6_Silent_p.P350P|GYS1_ENST00000541188.1_Silent_p.P334P|GYS1_ENST00000544287.1_Silent_p.P47P	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)	414					glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		TGTTCATGTCGGGAAGGCTCC	0.542000													13	99					0	0	1	0	0
LYST	1130	broad.mit.edu	37	1	235887452	235887452	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:235887452G>T	ENST00000389794.3	-	39	9365	c.9191C>A	c.(9190-9192)tCa>tAa	p.S3064*	LYST_ENST00000389793.2_Nonsense_Mutation_p.S3064*|LYST_ENST00000473037.1_5'UTR			Q99698	LYST_HUMAN	lysosomal trafficking regulator	3064					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CCAGGAAAATGATGCTGGTTC	0.328000													14	161					1.05317e-09	1.12902e-09	1	1	0
PEAK1	79834	broad.mit.edu	37	15	77407505	77407505	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr15:77407505C>G	ENST00000560626.2	-	7	4709	c.4234G>C	c.(4234-4236)Gaa>Caa	p.E1412Q	PEAK1_ENST00000312493.4_Missense_Mutation_p.E1412Q			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	1412	Protein kinase.				cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding										TCATCCTTTTCAGGGTCATCT	0.498000													17	58					0	0	1	0	0
PCSK6	5046	broad.mit.edu	37	15	101872078	101872078	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr15:101872078C>A	ENST00000348070.1	-	15	2013	c.2014G>T	c.(2014-2016)Gaa>Taa	p.E672*	PCSK6_ENST00000358417.3_Nonsense_Mutation_p.E672*|PCSK6_ENST00000561177.1_5'UTR	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	673					glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TCCTCATCTTCAGGAACTTCC	0.557000													4	46					0.014758	0.0148722	1	1	0
PPAT	5471	broad.mit.edu	37	4	57272738	57272738	+	Missense_Mutation	SNP	C	C	T	rs141469911		TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr4:57272738C>T	ENST00000264220.2	-	3	462	c.325G>A	c.(325-327)Gtt>Att	p.V109I	PPAT_ENST00000507648.1_5'UTR	NM_002703.4	NP_002694.3	Q06203	PUR1_HUMAN	phosphoribosyl pyrophosphate amidotransferase	109	Glutamine amidotransferase type-2.				glutamine metabolic process|nucleoside metabolic process|purine base biosynthetic process|purine ribonucleoside monophosphate biosynthetic process	cytosol	4 iron, 4 sulfur cluster binding|amidophosphoribosyltransferase activity|metal ion binding			cervix(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	20	Glioma(25;0.08)|all_neural(26;0.101)				L-Glutamine(DB00130)|Thioguanine(DB00352)	GTTTCAACAACGAAGGGCTGA	0.378000													22	50					0	0	1	0	0
SPRED1	161742	broad.mit.edu	37	15	38614540	38614540	+	Silent	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr15:38614540G>T	ENST00000299084.4	+	3	1166	c.306G>T	c.(304-306)acG>acT	p.T102T	SPRED1_ENST00000561205.1_3'UTR	NM_152594.2	NP_689807.1	Q7Z699	SPRE1_HUMAN	sprouty-related, EVH1 domain containing 1	102	WH1.				inactivation of MAPK activity|multicellular organismal development	caveola|nucleus	stem cell factor receptor binding			kidney(6)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		TTGGTCTTACGTTTCAAAGTC	0.363000									Legius syndrome				17	76					1.67942e-08	1.77841e-08	1	1	0
SYNE1	23345	broad.mit.edu	37	6	152583209	152583209	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr6:152583209C>G	ENST00000367255.5	-	101	19531	c.18930G>C	c.(18928-18930)caG>caC	p.Q6310H	SYNE1_ENST00000423061.1_Missense_Mutation_p.Q6239H|SYNE1_ENST00000448038.1_Missense_Mutation_p.Q6239H|SYNE1_ENST00000356820.4_Missense_Mutation_p.Q834H|SYNE1_ENST00000341594.5_Missense_Mutation_p.Q5922H|SYNE1_ENST00000265368.4_Missense_Mutation_p.Q6310H	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6310					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GTAGTAGTTTCTGCTTGGTAC	0.368000										HNSCC(10;0.0054)			15	28					0	0	1	0	0
ATF4P4	100127952	broad.mit.edu	37	11	113661477	113661477	+	RNA	SNP	A	A	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr11:113661477A>C	ENST00000393544.2	+	0	1525																											TCTCCCAGGAAGTTTAACAAA	0.527000													27	101					0	0	1	0	0
ATMIN	23300	broad.mit.edu	37	16	81078172	81078172	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr16:81078172G>A	ENST00000566488.1	+	3	2564	c.1601G>A	c.(1600-1602)gGa>gAa	p.G534E	ATMIN_ENST00000564241.1_Missense_Mutation_p.G534E|ATMIN_ENST00000299575.4_Missense_Mutation_p.G690E|ATMIN_ENST00000539819.1_3'UTR			O43313	ATMIN_HUMAN	ATM interactor	690					response to DNA damage stimulus	nucleus	zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						GGGTGTAGGGGAAATTCTAAC	0.468000													93	217					0	0	1	0	0
ZNF513	130557	broad.mit.edu	37	2	27603017	27603017	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:27603017C>G	ENST00000323703.6	-	2	352	c.154G>C	c.(154-156)Gag>Cag	p.E52Q	ZNF513_ENST00000407879.1_5'UTR	NM_144631.5	NP_653232.3	Q8N8E2	ZN513_HUMAN	zinc finger protein 513	52	Poly-Glu.				regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception	nucleus	transcription regulatory region DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	17	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTTCCTCCTCTTCCTCTTCC	0.562000													17	263					0	0	1	0	0
HELLS	3070	broad.mit.edu	37	10	96317928	96317928	+	Missense_Mutation	SNP	A	A	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr10:96317928A>T	ENST00000348459.5	+	4	414	c.309A>T	c.(307-309)aaA>aaT	p.K103N	HELLS_ENST00000239026.6_3'UTR|HELLS_ENST00000371332.4_Missense_Mutation_p.K103N|HELLS_ENST00000394045.1_Missense_Mutation_p.K103N|HELLS_ENST00000462057.1_3'UTR|HELLS_ENST00000394036.1_Missense_Mutation_p.K103N|HELLS_ENST00000394044.1_Missense_Mutation_p.K103N	NM_018063.3	NP_060533.2	Q9NRZ9	HELLS_HUMAN	helicase, lymphoid-specific	103					cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent	centromeric heterochromatin|nucleus	ATP binding|DNA binding|helicase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		Colorectal(252;0.0429)		all cancers(201;2.13e-05)		TGGAGAGAAAAAAGGAGTCTT	0.269000													20	23					0	0	1	0	0
CACNG7	59284	broad.mit.edu	37	19	54444867	54444867	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:54444867G>C	ENST00000391767.1	+	5	780	c.568G>C	c.(568-570)Gag>Cag	p.E190Q	CACNG7_ENST00000391766.1_Missense_Mutation_p.E190Q|CACNG7_ENST00000222212.2_Missense_Mutation_p.E190Q			P62955	CCG7_HUMAN	calcium channel, voltage-dependent, gamma subunit 7	190					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		CCTACTCAAAGAGGTGACGTC	0.552000													13	182					0	0	1	0	0
CEP104	9731	broad.mit.edu	37	1	3756216	3756216	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:3756216C>G	ENST00000378230.3	-	7	1015	c.691G>C	c.(691-693)Gat>Cat	p.D231H		NM_014704.3	NP_055519.1	O60308	CE104_HUMAN	centrosomal protein 104kDa	231						centriole	binding			breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						TTGGCATAATCATAGCGTTCC	0.358000													84	39					0	0	1	0	0
DPP9	91039	broad.mit.edu	37	19	4689638	4689638	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:4689638C>T	ENST00000262960.9	-	15	1970	c.1693G>A	c.(1693-1695)Ggc>Agc	p.G565S	DPP9_ENST00000598800.1_Missense_Mutation_p.G536S|DPP9_ENST00000594671.1_Missense_Mutation_p.G536S	NM_139159.4	NP_631898.3	Q86TI2	DPP9_HUMAN	dipeptidyl-peptidase 9	536					proteolysis	cytosol|membrane	aminopeptidase activity|serine-type peptidase activity			cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		ACGATCTCGCCGGCCGCCTCA	0.652000													2	2					0	0	1	0	0
ARHGAP6	395	broad.mit.edu	37	X	11197423	11197423	+	Splice_Site	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chrX:11197423G>A	ENST00000337414.4	-	7	2351	c.1479C>T	c.(1477-1479)ctC>ctT	p.L493L	ARHGAP6_ENST00000380736.1_Splice_Site_p.L290L|ARHGAP6_ENST00000413512.3_Splice_Site_p.L302L|ARHGAP6_ENST00000534860.1_Splice_Site_p.L318L|ARHGAP6_ENST00000491514.1_5'UTR|ARHGAP6_ENST00000380732.3_Splice_Site_p.L525L|ARHGAP6_ENST00000380718.1_Splice_Site_p.L493L|ARHGAP6_ENST00000303025.6_Splice_Site_p.L290L	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	493	Rho-GAP.				actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						ATTACGCACAGAGAGTGTTGA	0.453000													54	4					0	0	1	0	0
RIOK2	55781	broad.mit.edu	37	5	96503580	96503580	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr5:96503580C>G	ENST00000283109.3	-	8	1056	c.988G>C	c.(988-990)Gag>Cag	p.E330Q	CTD-2215E18.1_ENST00000509481.1_Intron|RIOK2_ENST00000508447.1_Missense_Mutation_p.E330Q	NM_018343.2	NP_060813.2	Q9BVS4	RIOK2_HUMAN	RIO kinase 2	330	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|urinary_tract(2)	23		all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0657)		TCAGATCCCTCTTTTGTTTCA	0.408000													52	69					0	0	1	0	0
BCORL1	63035	broad.mit.edu	37	X	129149535	129149535	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chrX:129149535G>A	ENST00000540052.1	+	3	2831	c.2787G>A	c.(2785-2787)caG>caA	p.Q929Q	BCORL1_ENST00000303743.5_Silent_p.Q929Q|BCORL1_ENST00000359304.2_Silent_p.Q929Q|BCORL1_ENST00000218147.7_Silent_p.Q929Q	NM_021946.4	NP_068765	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	929					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						TCAGCCCTCAGACTGGGACCC	0.537000													13	34					0	0	1	0	0
EDEM3	80267	broad.mit.edu	37	1	184686740	184686740	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:184686740G>C	ENST00000318130.8	-	12	1445	c.1179C>G	c.(1177-1179)ttC>ttG	p.F393L	EDEM3_ENST00000367512.3_Missense_Mutation_p.F350L	NM_025191.3	NP_079467.3	Q9BZQ6	EDEM3_HUMAN	ER degradation enhancer, mannosidase alpha-like 3	393					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						AGTGTACTCTGAAATCTGTGG	0.294000													7	18					0	0	1	0	0
KRT84	3890	broad.mit.edu	37	12	52774948	52774948	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:52774948G>A	ENST00000257951.3	-	6	1185	c.1119C>T	c.(1117-1119)aaC>aaT	p.N373N	RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	373	Coil 2.|Rod.					keratin filament	structural constituent of epidermis			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TGTTGCGCAGGTTGTCACAGT	0.557000													40	144					0	0	1	0	0
OR5H1	26341	broad.mit.edu	37	3	97852408	97852408	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:97852408C>G	ENST00000354565.2	+	1	867	c.867C>G	c.(865-867)atC>atG	p.I289M	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	289					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						ATCCTATCATCTACAGTCTGA	0.343000													20	84					0	0	1	0	0
ITIH2	3698	broad.mit.edu	37	10	7786827	7786827	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr10:7786827C>G	ENST00000358415.4	+	19	2648	c.2482C>G	c.(2482-2484)Ctt>Gtt	p.L828V	ITIH2_ENST00000379587.4_Missense_Mutation_p.L817V	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	828					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TTCTGTTTTACTTCATCGTGT	0.423000													12	86					0	0	1	0	0
TXK	7294	broad.mit.edu	37	4	48078437	48078437	+	Nonsense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr4:48078437G>C	ENST00000264316.4	-	12	1305	c.1220C>G	c.(1219-1221)tCa>tGa	p.S407*	TXK_ENST00000507351.1_Nonsense_Mutation_p.S62*	NM_003328.2	NP_003319.2	P42681	TXK_HUMAN	TXK tyrosine kinase	407	Protein kinase.					cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						TCCAAAGTCTGAAATTTTTAC	0.308000													14	31					0	0	1	0	0
ZNF223	7766	broad.mit.edu	37	19	44571219	44571219	+	Nonsense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:44571219C>G	ENST00000591793.1	+	7	1651	c.1568C>G	c.(1567-1569)tCa>tGa	p.S523*	ZNF223_ENST00000434772.3_Nonsense_Mutation_p.S413*			Q9UK11	ZN223_HUMAN	zinc finger protein 223	413					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18		Prostate(69;0.0352)				AGACAGGCCTCAAGTATTTTG	0.423000													13	131					0	0	1	0	0
ZNF702P	79986	broad.mit.edu	37	19	53473267	53473267	+	RNA	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:53473267C>T	ENST00000600068.1	-	0	489				ZNF702P_ENST00000270443.4_RNA																							AACTTTGTCACATTCTTCACA	0.363000													25	83					0	0	1	0	0
COL9A1	1297	broad.mit.edu	37	6	70964891	70964891	+	Silent	SNP	T	T	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr6:70964891T>G	ENST00000357250.6	-	23	1731	c.1573A>C	c.(1573-1575)Aga>Cga	p.R525R	COL9A1_ENST00000489611.1_5'UTR|COL9A1_ENST00000320755.7_Silent_p.R282R|COL9A1_ENST00000370499.4_Silent_p.R282R	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	525	Triple-helical region (COL2).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						GGAATTCCTCTAGCACCTTCA	0.443000													37	55					0	0	1	0	0
GTSF1L	149699	broad.mit.edu	37	20	42355269	42355269	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr20:42355269G>A	ENST00000373003.1	-	1	369	c.66C>T	c.(64-66)ttC>ttT	p.F22F	GTSF1L_ENST00000373005.2_Silent_p.F22F	NM_001008901.1|NM_176791.3	NP_001008901.1|NP_789761.1	Q9H1H1	GTSFL_HUMAN	gametocyte specific factor 1-like	22							metal ion binding			endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			GGTGGTACTGGAATCTGCTGA	0.493000													36	87					0	0	1	0	0
ATP10A	57194	broad.mit.edu	37	15	25959011	25959011	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr15:25959011C>T	ENST00000356865.6	-	10	2265	c.2154G>A	c.(2152-2154)ctG>ctA	p.L718L		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	718					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		CTTGGTCGTGCAGCCGCTCCA	0.637000													3	32					0	0	1	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90161902	90161902	+	RNA	SNP	A	A	G	rs6500471	by1000genomes	TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr16:90161902A>G	ENST00000567960.1	+	0	638				TUBB8P7_ENST00000564451.1_RNA														p.K213R(8)									ATATGTTCCAAGACCCTAAAA	0.537000													4	16					0	0	1	0	0
GPAA1	8733	broad.mit.edu	37	8	145140309	145140309	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr8:145140309G>T	ENST00000355091.4	+	10	1499	c.1378G>T	c.(1378-1380)Gag>Tag	p.E460*	GPAA1_ENST00000361036.6_Nonsense_Mutation_p.E400*	NM_003801.3	NP_003792.1	O43292	GPAA1_HUMAN	glycosylphosphatidylinositol anchor attachment 1	460					attachment of GPI anchor to protein|C-terminal protein lipidation|protein complex assembly|protein retention in ER lumen	GPI-anchor transamidase complex	tubulin binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(2)	19	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCCAGTGGCAGAGGCTGAGGC	0.632000													4	35					0.00909568	0.00918382	1	1	0
FABP5P3	220832	broad.mit.edu	37	7	152139953	152139953	+	RNA	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr7:152139953G>C	ENST00000477993.1	+	0	708					NR_002935.1																						ACAATAACAAGAAAACTGAAA	0.428000													9	41					0	0	1	0	0
MOB1B	92597	broad.mit.edu	37	4	71824646	71824646	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr4:71824646C>T	ENST00000309395.2	+	2	271	c.70C>T	c.(70-72)Cac>Tac	p.H24Y	MOB1B_ENST00000511449.1_3'UTR|MOB1B_ENST00000396051.2_Missense_Mutation_p.H29Y	NM_001244766.1|NM_173468.3	NP_001231695.1|NP_775739.1	Q7L9L4	MOL1A_HUMAN	MOB kinase activator 1B	24					hippo signaling cascade|protein autophosphorylation	cytoplasm|nucleus	kinase activator activity|kinase binding|metal ion binding										AGAGGGTTCTCACCAGTATGA	0.413000													59	24					0	0	1	0	0
COLQ	8292	broad.mit.edu	37	3	15563061	15563061	+	Silent	SNP	C	C	A	rs111339593	byFrequency	TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:15563061C>A	ENST00000383785.2	-	1	197	c.72G>T	c.(70-72)ccG>ccT	p.P24P	COLQ_ENST00000603808.1_Silent_p.P24P|COLQ_ENST00000383788.5_Silent_p.P24P|COLQ_ENST00000383787.2_Silent_p.P24P|COLQ_ENST00000383786.5_Silent_p.P24P			Q9Y215	COLQ_HUMAN	collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase	24					acetylcholine catabolic process in synaptic cleft|asymmetric protein localization	basal lamina|cell junction|collagen|extracellular space|synaptic cleft				endometrium(2)|large_intestine(4)|lung(10)|skin(3)	19						TGATGAAAGTCGGCTGAGACA	0.488000													5	64					0.0215528	0.0216985	1	1	0
ITK	3702	broad.mit.edu	37	5	156659373	156659373	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr5:156659373G>A	ENST00000422843.3	+	8	889	c.737G>A	c.(736-738)cGa>cAa	p.R246Q		NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	246	SH2.				cellular defense response|intracellular signal transduction|T cell receptor signaling pathway	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGTATCAGCCGAGACAAAGCT	0.323000			T	SYK	peripheral T-cell lymphoma								16	1					0	0	1	0	0
GLO1	2739	broad.mit.edu	37	6	38670780	38670780	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr6:38670780G>A	ENST00000373365.4	-	1	137	c.51C>T	c.(49-51)ctC>ctT	p.L17L		NM_006708.2	NP_006699.2	Q04760	LGUL_HUMAN	glyoxalase I	17					anti-apoptosis|carbohydrate metabolic process	cytoplasm	lactoylglutathione lyase activity|metal ion binding			lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	6					Glutathione(DB00143)	AGCAGCAACTGAGGGCGGCCT	0.692000													10	1					0	0	1	0	0
CDT1	81620	broad.mit.edu	37	16	88871024	88871024	+	Missense_Mutation	SNP	A	A	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr16:88871024A>C	ENST00000301019.4	+	2	919	c.300A>C	c.(298-300)aaA>aaC	p.K100N		NM_030928.3	NP_112190.2	Q9H211	CDT1_HUMAN	chromatin licensing and DNA replication factor 1	100					DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|regulation of DNA-dependent DNA replication initiation|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	DNA binding|protein binding			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(3)	7				BRCA - Breast invasive adenocarcinoma(80;0.0476)		AGATAAAGAAATCCACCCCGG	0.687000													20	28					0	0	1	0	0
SYT1	6857	broad.mit.edu	37	12	79837968	79837968	+	Silent	SNP	A	A	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:79837968A>C	ENST00000261205.4	+	10	1701	c.1044A>C	c.(1042-1044)gtA>gtC	p.V348V	SYT1_ENST00000552744.1_Silent_p.V348V|RP1-78O14.1_ENST00000550268.1_lincRNA|SYT1_ENST00000457153.2_Silent_p.V345V|SYT1_ENST00000393240.3_Silent_p.V348V	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	348	C2 2.|Phospholipid binding (Probable).				detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						GCTTTGAAGTACCTTTTGAAC	0.353000													27	183					0	0	1	0	0
ZNF276	92822	broad.mit.edu	37	16	89799709	89799709	+	Splice_Site	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr16:89799709G>C	ENST00000289816.5	+	7	1256		c.e7-1		ZNF276_ENST00000443381.2_Splice_Site|ZNF276_ENST00000568064.1_Splice_Site|ZNF276_ENST00000446326.2_Splice_Site	NM_152287.3	NP_689500.2	Q8N554	ZN276_HUMAN	zinc finger protein 276						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		CTTTTTTTCAGAGTCTCTGGT	0.428000													31	111					0	0	1	0	0
PPP1R2	5504	broad.mit.edu	37	3	195251628	195251628	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:195251628G>A	ENST00000328432.3	-	3	657	c.297C>T	c.(295-297)atC>atT	p.I99I		NM_006241.4	NP_006232.1	P41236	IPP2_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 2	99					glycogen metabolic process|regulation of phosphoprotein phosphatase activity|regulation of signal transduction		protein binding|protein serine/threonine phosphatase inhibitor activity			endometrium(2)|kidney(1)|large_intestine(1)|urinary_tract(2)	6	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)		Epithelial(36;2.64e-22)|all cancers(36;2.69e-20)|OV - Ovarian serous cystadenocarcinoma(49;3.52e-19)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;9.55e-05)		TCCTGGCTAAGATGTCTGGCG	0.468000													21	33					0	0	1	0	0
EIF4A3	9775	broad.mit.edu	37	17	78111251	78111251	+	Nonsense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:78111251G>C	ENST00000269349.3	-	9	1138	c.917C>G	c.(916-918)tCa>tGa	p.S306*		NM_014740.3	NP_055555.1	P38919	IF4A3_HUMAN	eukaryotic translation initiation factor 4A3	306	Helicase C-terminal.				mRNA transport|negative regulation of translation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|rRNA processing	catalytic step 2 spliceosome|cytoplasm|exon-exon junction complex|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|poly(A) RNA binding|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)			TCCATGCATTGAGGATACAGT	0.532000													12	15					0	0	1	0	0
RAB12	201475	broad.mit.edu	37	18	8624969	8624969	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr18:8624969G>C	ENST00000329286.6	+	2	543	c.260G>C	c.(259-261)aGa>aCa	p.R87T		NM_001025300.2	NP_001020471.2	Q6IQ22	RAB12_HUMAN	RAB12, member RAS oncogene family	87					protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding			breast(1)|lung(4)|prostate(1)|urinary_tract(1)	7						GTAGAGCTAAGAGGAAAGAAA	0.333000													31	130					0	0	1	0	0
PRKCH	5583	broad.mit.edu	37	14	61995799	61995799	+	Silent	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr14:61995799G>C	ENST00000332981.5	+	11	1825	c.1440G>C	c.(1438-1440)ctG>ctC	p.L480L	PRKCH_ENST00000555082.1_Silent_p.L319L	NM_006255.3	NP_006246.2	P24723	KPCL_HUMAN	protein kinase C, eta	480	Protein kinase.				intracellular signal transduction|platelet activation	cytosol|plasma membrane	ATP binding|enzyme binding|metal ion binding|protein kinase C activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		TCAGAGATCTGAAACTGGACA	0.517000													36	2					0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89398590	89398590	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr15:89398590G>A	ENST00000439576.2	+	12	3148	c.2774G>A	c.(2773-2775)aGa>aAa	p.R925K	ACAN_ENST00000559004.1_Missense_Mutation_p.R925K|ACAN_ENST00000561243.1_Missense_Mutation_p.R925K|ACAN_ENST00000352105.7_Missense_Mutation_p.R925K	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	925					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GATGAAGAGAGAATTGAGTGG	0.577000													15	32					0	0	1	0	0
UBE2E1	7324	broad.mit.edu	37	3	23930783	23930783	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:23930783C>G	ENST00000467766.1	+	4	451	c.418C>G	c.(418-420)Ctt>Gtt	p.L140V	UBE2E1_ENST00000424381.1_Intron|UBE2E1_ENST00000475680.1_Intron|UBE2E1_ENST00000346855.3_Intron|UBE2E1_ENST00000306627.3_Intron			P51965	UB2E1_HUMAN	ubiquitin-conjugating enzyme E2E 1	0					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|histone H2B ubiquitination|histone monoubiquitination|ISG15-protein conjugation|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K48-linked ubiquitination	cytosol|nucleoplasm|ubiquitin ligase complex	ATP binding|ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(2)|large_intestine(4)	7						TTGTTTTATTCTTCCTTACCT	0.338000													6	45					0	0	1	0	0
IMPACT	55364	broad.mit.edu	37	18	22008854	22008854	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr18:22008854C>G	ENST00000284202.4	+	3	328	c.187C>G	c.(187-189)Cca>Gca	p.P63A		NM_018439.3	NP_060909	Q9P2X3	IMPCT_HUMAN	impact RWD domain protein	63	RWD.									endometrium(1)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(2)	16	all_cancers(21;0.00018)|all_epithelial(16;1.5e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)					GAATGAATACCCAGGTACAGC	0.353000													12	48					0	0	1	0	0
TUB	7275	broad.mit.edu	37	11	8120357	8120357	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr11:8120357C>T	ENST00000305253.4	+	10	1457	c.1216C>T	c.(1216-1218)Cag>Tag	p.Q406*	TUB_ENST00000534099.1_Nonsense_Mutation_p.Q357*|TUB_ENST00000299506.2_Nonsense_Mutation_p.Q351*	NM_003320.4	NP_003311.2	P50607	TUB_HUMAN	tubby bipartite transcription factor	351					phagocytosis|positive regulation of phagocytosis|response to stimulus	cytoplasm|extracellular region|nucleus|plasma membrane		p.Q406*(1)		breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		AGTCAACCCTCAGAAGGCCTC	0.507000											OREG0020732	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	66					0	0	1	0	0
WDR62	284403	broad.mit.edu	37	19	36593683	36593683	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:36593683G>A	ENST00000401500.2	+	27	3300	c.3265G>A	c.(3265-3267)Gaa>Aaa	p.E1089K	WDR62_ENST00000270301.7_Missense_Mutation_p.E1084K	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	WD repeat domain 62	1084					cerebral cortex development	nucleus				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CTCTGAAGCTGAAGACCACTT	0.617000													15	54					0	0	1	0	0
ABCA9	10350	broad.mit.edu	37	17	67023212	67023212	+	Nonsense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:67023212G>C	ENST00000340001.4	-	15	2166	c.1955C>G	c.(1954-1956)tCa>tGa	p.S652*	ABCA9_ENST00000453985.2_Nonsense_Mutation_p.S652*|ABCA9_ENST00000370732.2_Nonsense_Mutation_p.S652*	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	652	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					TCGGTGCCTTGAAAGAGGATC	0.438000													24	46					0	0	1	0	0
SPTBN2	6712	broad.mit.edu	37	11	66460498	66460498	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr11:66460498G>C	ENST00000533211.1	-	25	5259	c.4928C>G	c.(4927-4929)aCc>aGc	p.T1643S	SPTBN2_ENST00000529997.1_Missense_Mutation_p.T1643S|SPTBN2_ENST00000309996.2_Missense_Mutation_p.T1643S			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1643					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CTGGTGGATGGTCTGCGCGTA	0.677000													31	80					0	0	1	0	0
MAPK9	5601	broad.mit.edu	37	5	179707519	179707519	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr5:179707519C>G	ENST00000452135.2	-	2	341	c.43G>C	c.(43-45)Gtg>Ctg	p.V15L	MAPK9_ENST00000539014.1_Missense_Mutation_p.V15L|MAPK9_ENST00000425491.2_Missense_Mutation_p.V15L|MAPK9_ENST00000397072.3_Missense_Mutation_p.V15L|MAPK9_ENST00000347470.4_Missense_Mutation_p.V15L|MAPK9_ENST00000455781.1_Missense_Mutation_p.V15L|MAPK9_ENST00000393360.3_Missense_Mutation_p.V15L|MAPK9_ENST00000343111.6_Missense_Mutation_p.V15L			P45984	MK09_HUMAN	mitogen-activated protein kinase 9	15					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|protein binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAGTCTGCCACTTGCACACTA	0.458000													8	43					0	0	1	0	0
HSD17B7	51478	broad.mit.edu	37	1	162767598	162767598	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:162767598G>A	ENST00000367917.3	+	4	407	c.339G>A	c.(337-339)gtG>gtA	p.V113V	HSD17B7_ENST00000367913.1_Intron|HSD17B7_ENST00000254521.3_Silent_p.V113V|HSD17B7_ENST00000485405.1_3'UTR			P56937	DHB7_HUMAN	hydroxysteroid (17-beta) dehydrogenase 7	113					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	3-keto sterol reductase activity|estradiol 17-beta-dehydrogenase activity			endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9	all_hematologic(112;0.115)				NADH(DB00157)	TCAGAAAAGTGATTCATATGT	0.433000													5	35					0	0	1	0	0
TYK2	7297	broad.mit.edu	37	19	10478979	10478979	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:10478979G>A	ENST00000525621.1	-	4	790	c.309C>T	c.(307-309)ttC>ttT	p.F103F	TYK2_ENST00000264818.6_Silent_p.F103F|TYK2_ENST00000529370.1_Silent_p.F103F|TYK2_ENST00000524462.1_Intron	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	103	FERM.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			ACCTTATGCGGAAATATAGCA	0.557000													76	92					0	0	1	0	0
SLC25A31	83447	broad.mit.edu	37	4	128665848	128665848	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr4:128665848G>T	ENST00000281154.4	+	2	422	c.254G>T	c.(253-255)gGc>gTc	p.G85V		NM_031291.2	NP_112581.1	Q9H0C2	ADT4_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31	85					transmembrane transport	cilium|flagellum|integral to membrane|mitochondrial inner membrane	binding|transporter activity			NS(1)|breast(1)|large_intestine(10)|lung(8)|skin(2)	22						TTTTGGCGTGGCAATTTGGCA	0.318000													17	67					2.23348e-06	2.33429e-06	1	1	0
MMEL1	79258	broad.mit.edu	37	1	2541195	2541195	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:2541195C>T	ENST00000288709.6	-	5	581	c.341G>A	c.(340-342)tGg>tAg	p.W114*	MMEL1_ENST00000378412.3_Nonsense_Mutation_p.W123*|MMEL1_ENST00000502556.1_Nonsense_Mutation_p.W123*	NM_033467.3	NP_258428.2	Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	123					proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		GCGCCGCAGCCAGCCTCCGCA	0.607000													18	59					0	0	1	0	0
ZNF544	27300	broad.mit.edu	37	19	58772614	58772614	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:58772614G>C	ENST00000269829.4	+	7	1116	c.642G>C	c.(640-642)gaG>gaC	p.E214D	ZNF544_ENST00000596652.1_Missense_Mutation_p.E214D|ZNF544_ENST00000415203.2_Missense_Mutation_p.E186D|CTD-3138B18.5_ENST00000597230.1_RNA|ZNF544_ENST00000599227.1_3'UTR|ZNF544_ENST00000596825.1_3'UTR|ZNF544_ENST00000596929.1_Intron|CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000600044.1_Missense_Mutation_p.E186D|ZNF544_ENST00000599953.1_Missense_Mutation_p.E72D|ZNF544_ENST00000595981.1_Intron|ZNF544_ENST00000600220.1_Missense_Mutation_p.E186D	NM_014480.2	NP_055295.2	Q6NX49	ZN544_HUMAN	zinc finger protein 544	214					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		AGCACTGTGAGAGTCATCAGT	0.378000													22	51					0	0	1	0	0
GLB1	2720	broad.mit.edu	37	3	33109743	33109743	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:33109743G>C	ENST00000307363.5	-	4	580	c.436C>G	c.(436-438)Ctt>Gtt	p.L146V	GLB1_ENST00000445488.2_Missense_Mutation_p.L194V|GLB1_ENST00000307377.8_Intron|GLB1_ENST00000399402.3_Missense_Mutation_p.L116V	NM_000404.2	NP_000395	P16278	BGAL_HUMAN	galactosidase, beta 1	146					carbohydrate metabolic process	lysosome|perinuclear region of cytoplasm	beta-galactosidase activity|cation binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21		Melanoma(143;0.104)				GAGCGGAGAAGAATAGACTCT	0.478000													13	39					0	0	1	0	0
DSCAML1	57453	broad.mit.edu	37	11	117332172	117332172	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr11:117332172C>T	ENST00000321322.6	-	18	3587	c.3586G>A	c.(3586-3588)Gat>Aat	p.D1196N	DSCAML1_ENST00000527706.1_Missense_Mutation_p.D926N	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1136	Fibronectin type-III 4.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TCACCCCCATCAACATAGAGG	0.602000													27	44					0	0	1	0	0
IRAK4	51135	broad.mit.edu	37	12	44180267	44180267	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:44180267G>C	ENST00000431837.1	+	10	1190	c.882G>C	c.(880-882)atG>atC	p.M294I	IRAK4_ENST00000440781.2_Missense_Mutation_p.M294I|IRAK4_ENST00000448290.2_Missense_Mutation_p.M418I|IRAK4_ENST00000551736.1_Missense_Mutation_p.M418I	NM_001145256.1|NM_001145257.1	NP_001138728.1|NP_001138729.1	Q9NWZ3	IRAK4_HUMAN	interleukin-1 receptor-associated kinase 4	418	Protein kinase.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity					all_cancers(12;0.00149)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.04)		ATAAAAAGATGAATGATGCTG	0.303000													18	75					0	0	1	0	0
ELF2	1998	broad.mit.edu	37	4	140005339	140005339	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr4:140005339C>T	ENST00000358635.3	-	1	311	c.6G>A	c.(4-6)gcG>gcA	p.A2A	ELF2_ENST00000510408.1_Silent_p.A2A|ELF2_ENST00000379549.2_Silent_p.A2A|ELF2_ENST00000394235.2_Intron|ELF2_ENST00000265495.4_Intron|ELF2_ENST00000379550.1_Intron	NM_006874.2	NP_006865.1	Q15723	ELF2_HUMAN	E74-like factor 2 (ets domain transcription factor)	0					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	19	all_hematologic(180;0.162)					GCAGAGACGTCGCCATGTTTA	0.632000													20	38					0	0	1	0	0
SMTNL2	342527	broad.mit.edu	37	17	4498617	4498617	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:4498617C>T	ENST00000389313.4	+	5	1051	c.984C>T	c.(982-984)gcC>gcT	p.A328A	SMTNL2_ENST00000338859.4_Silent_p.A184A	NM_001114974.1	NP_001108446.1	Q2TAL5	SMTL2_HUMAN	smoothelin-like 2	328										breast(1)|endometrium(9)|kidney(1)|lung(1)|skin(1)	13				READ - Rectum adenocarcinoma(115;0.0325)		AAACGGCGGCCGGCAAGTACG	0.677000													3	26					0	0	1	0	0
SMC4	10051	broad.mit.edu	37	3	160150149	160150149	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:160150149G>C	ENST00000357388.3	+	22	3827	c.3376G>C	c.(3376-3378)Gat>Cat	p.D1126H	SMC4_ENST00000360111.2_Missense_Mutation_p.D1068H|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000344722.5_Missense_Mutation_p.D1126H|SMC4_ENST00000462787.1_Missense_Mutation_p.D1068H|SMC4_ENST00000469762.1_Missense_Mutation_p.D1101H	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	1126					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GGCATATGAAGATCTTCGGAA	0.338000													16	65					0	0	1	0	0
SPAG1	6674	broad.mit.edu	37	8	101253173	101253173	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr8:101253173G>C	ENST00000388798.2	+	19	2895	c.2704G>C	c.(2704-2706)Gag>Cag	p.E902Q	SPAG1_ENST00000251809.3_Missense_Mutation_p.E902Q	NM_003114.4	NP_003105.2	Q07617	SPAG1_HUMAN	sperm associated antigen 1	902					single fertilization	cytoplasm	GTP binding|hydrolase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)		ACAGCTGTTTGAGGACCTTTC	0.333000													10	112					0	0	1	0	0
RPL23AP53	644128	broad.mit.edu	37	8	163654	163654	+	RNA	SNP	C	C	T	rs2906362	by1000genomes	TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr8:163654C>T	ENST00000606975.1	-	0	267																											CCTTTAAAGCCTTCACTTTGG	0.483000													3	39					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577099	7577099	+	Missense_Mutation	SNP	C	C	G	rs121912660		TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:7577099C>G	ENST00000420246.2	-	8	971	c.839G>C	c.(838-840)aGa>aCa	p.R280T	TP53_ENST00000269305.4_Missense_Mutation_p.R280T|TP53_ENST00000445888.2_Missense_Mutation_p.R280T|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R280T|TP53_ENST00000359597.4_Missense_Mutation_p.R280T	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	280	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> G (in sporadic cancers; somatic mutation).|R -> I (in sporadic cancers; somatic mutation).|R -> K (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> T (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R280T(65)|p.R280K(49)|p.R280I(16)|p.0?(8)|p.?(2)|p.R280_D281delRD(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.G279_R280delGR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.D281fs*24(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)		GCGCCGGTCTCTCCCAGGACA	0.542000		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)			31	3					0	0	1	0	0
ASPG	374569	broad.mit.edu	37	14	104552129	104552129	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr14:104552129G>T	ENST00000551177.1	+	1	114	c.22G>T	c.(22-24)Gag>Tag	p.E8*	ASPG_ENST00000546892.2_Nonsense_Mutation_p.E8*|ASPG_ENST00000455920.2_Nonsense_Mutation_p.E8*	NM_001080464.2	NP_001073933.2	Q86U10	LPP60_HUMAN	asparaginase homolog (S. cerevisiae)	8					lipid catabolic process		1-alkyl-2-acetylglycerophosphocholine esterase activity|asparaginase activity|lysophospholipase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	11						GGTGGGGCCCGAGCGGAGGCT	0.746000													9	5					1.12685e-05	1.16834e-05	1	1	0
ATG2A	23130	broad.mit.edu	37	11	64673042	64673042	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr11:64673042G>T	ENST00000421419.2	-	24	3571	c.3457C>A	c.(3457-3459)Ctg>Atg	p.L1153M	ATG2A_ENST00000377264.3_Missense_Mutation_p.L1153M			Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1153							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						TACCTGAGCAGGAAGGTGGAG	0.617000													8	3					5.4927e-09	5.83425e-09	1	1	0
MALAT1	378938	broad.mit.edu	37	11	65272183	65272183	+	RNA	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr11:65272183G>A	ENST00000534336.1	+	0	6951					NR_002819.2																						CAGTCTTCAAGAAATTAAACT	0.398000													6	35					0	0	1	0	0
TRIM71	131405	broad.mit.edu	37	3	32932040	32932040	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:32932040G>A	ENST00000383763.5	+	4	1407	c.1344G>A	c.(1342-1344)cgG>cgA	p.R448R		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase						multicellular organismal development	cytoplasm	zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AGACCGTGCGGAGCCTCCTGC	0.617000													27	43					0	0	1	0	0
DHX16	8449	broad.mit.edu	37	6	30624524	30624524	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr6:30624524G>C	ENST00000376442.3	-	14	2356	c.2161C>G	c.(2161-2163)Cag>Gag	p.Q721E	DHX16_ENST00000376437.5_Missense_Mutation_p.Q240E	NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	721	Helicase C-terminal.				mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			kidney(2)|ovary(2)	4						CCAGCTCGCTGATTGGCTGAG	0.542000													18	50					0	0	1	0	0
TUBB4A	10382	broad.mit.edu	37	19	6495749	6495749	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:6495749G>C	ENST00000264071.2	-	4	1132	c.761C>G	c.(760-762)gCc>gGc	p.A254G	TUBB4A_ENST00000540257.1_Missense_Mutation_p.A254G			P04350	TBB4_HUMAN	tubulin, beta 4A class IVa	254					'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.A254D(1)									CATGTTGACGGCCAGCTTGCG	0.682000													18	110					0	0	1	0	0
LIN28A	79727	broad.mit.edu	37	1	26752886	26752886	+	Silent	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:26752886C>G	ENST00000326279.6	+	4	681	c.567C>G	c.(565-567)acC>acG	p.T189T	LIN28A_ENST00000254231.4_Silent_p.T189T	NM_024674.4	NP_078950.1	Q9H9Z2	LN28A_HUMAN	lin-28 homolog A (C. elegans)	189					miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing|stem cell maintenance	cytoplasmic mRNA processing body|nucleolus|stress granule	DNA binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)	8						GAAAGCCAACCTACTTTCGAG	0.557000													18	55					0	0	1	0	0
PTPN22	26191	broad.mit.edu	37	1	114402061	114402061	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:114402061T>C	ENST00000359785.5	-	2	244	c.109A>G	c.(109-111)Aag>Gag	p.K37E	PTPN22_ENST00000460620.1_Missense_Mutation_p.K37E|PTPN22_ENST00000534519.1_5'UTR|PTPN22_ENST00000538253.1_5'UTR|AP4B1-AS1_ENST00000419536.1_RNA|PTPN22_ENST00000525799.1_Missense_Mutation_p.K37E|PTPN22_ENST00000528414.1_Missense_Mutation_p.K37E|PTPN22_ENST00000420377.2_Missense_Mutation_p.K37E	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	37	Tyrosine-protein phosphatase.				negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	kinase binding|protein tyrosine phosphatase activity|SH3 domain binding			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		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)		GCCTTGTACTTGGTAGATTGC	0.363000													65	37					0	0	1	0	0
KRT4	3851	broad.mit.edu	37	12	53204577	53204577	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:53204577C>T	ENST00000551956.1	-	3	1193	c.701G>A	c.(700-702)cGc>cAc	p.R234H	KRT4_ENST00000458244.2_Missense_Mutation_p.R214H|KRT4_ENST00000293774.4_Missense_Mutation_p.R308H			B4DRS2	B4DRS2_HUMAN	keratin 4	234						keratin filament	structural molecule activity	p.R308H(1)		endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						GGCTGCTGTGCGTTTGTTGAT	0.517000													16	53					0	0	1	0	0
SCARNA2	677766	broad.mit.edu	37	1	109643217	109643217	+	RNA	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:109643217G>C	ENST00000458748.1	+	0	403					NR_003023.1																						ACTGATTATCGAGGCGATTCT	0.701000													3	15					0	0	1	0	0
PI15	51050	broad.mit.edu	37	8	75737667	75737667	+	Silent	SNP	C	C	T	rs147092656	by1000genomes	TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr8:75737667C>T	ENST00000260113.2	+	2	362	c.183C>T	c.(181-183)taC>taT	p.Y61Y	RP11-758M4.4_ENST00000518128.1_RNA|RP11-758M4.4_ENST00000523860.1_RNA|PI15_ENST00000523773.1_Silent_p.Y61Y	NM_015886.3	NP_056970.1	O43692	PI15_HUMAN	peptidase inhibitor 15	61						extracellular region	peptidase inhibitor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1)	30	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			GGAAGCGCTACATTTCGCAGA	0.443000													49	42					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33961642	33961642	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr15:33961642C>T	ENST00000389232.4	+	37	5777	c.5707C>T	c.(5707-5709)Ctt>Ttt	p.L1903F	RYR3_ENST00000415757.3_Missense_Mutation_p.L1903F	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1903	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CCATGAGGACCTTCTCCTTCA	0.458000													20	13					0	0	1	0	0
ZNF878	729747	broad.mit.edu	37	19	12155622	12155622	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:12155622G>A	ENST00000602107.1	-	5	734	c.735C>T	c.(733-735)ccC>ccT	p.P245P	ZNF878_ENST00000547628.1_Silent_p.P198P|CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron			C9JN71	ZN878_HUMAN	zinc finger protein 878	198					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						TACATTCATAGGGTTTTTTTG	0.388000													114	121					0	0	1	0	0
ADAM22	53616	broad.mit.edu	37	7	87743932	87743932	+	Silent	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr7:87743932C>G	ENST00000398204.4	+	6	830	c.507C>G	c.(505-507)ctC>ctG	p.L169L	ADAM22_ENST00000398201.4_Silent_p.L169L|ADAM22_ENST00000315984.7_Silent_p.L169L|ADAM22_ENST00000439864.1_Silent_p.L169L|ADAM22_ENST00000398209.3_Silent_p.L169L|ADAM22_ENST00000265727.7_Silent_p.L169L	NM_016351.4|NM_021723.3	NP_057435.2|NP_068369.1	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	169					cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			ACACATATCTCATTGAGCCAG	0.398000													11	59					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21065842	21065842	+	Missense_Mutation	SNP	T	T	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr16:21065842T>A	ENST00000261383.3	-	28	3937	c.3938A>T	c.(3937-3939)aAg>aTg	p.K1313M	DNAH3_ENST00000415178.1_Missense_Mutation_p.K1313M	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1313	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ATCATTGCTCTTTTTCAGAAA	0.537000													9	30					0	0	1	0	0
MKRN2	23609	broad.mit.edu	37	3	12611602	12611602	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:12611602G>C	ENST00000170447.7	+	3	325	c.188G>C	c.(187-189)gGa>gCa	p.G63A	MKRN2_ENST00000411987.1_Missense_Mutation_p.G20A|MKRN2_ENST00000448482.1_Missense_Mutation_p.G61A	NM_001271707.1|NM_014160.3	NP_001258636.1|NP_054879.3	Q9H000	MKRN2_HUMAN	makorin ring finger protein 2	63						intracellular	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)	16						GCTGCAGCTGGAGGTGCTGTG	0.547000													23	73					0	0	1	0	0
ZNF223	7766	broad.mit.edu	37	19	44570825	44570825	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:44570825C>G	ENST00000591793.1	+	7	1257	c.1174C>G	c.(1174-1176)Cac>Gac	p.H392D	ZNF223_ENST00000434772.3_Missense_Mutation_p.H282D			Q9UK11	ZN223_HUMAN	zinc finger protein 223	282					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18		Prostate(69;0.0352)				TCAGAGAATTCACACAGGGGA	0.423000													112	188					0	0	1	0	0
PRSS1	5644	broad.mit.edu	37	7	142459637	142459637	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr7:142459637G>A	ENST00000486171.1	+	4	272	c.255G>A	c.(253-255)gtG>gtA	p.V85V	PRSS1_ENST00000311737.7_Silent_p.V71V			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	71	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			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)			GCATCCAGGTGAGACTGGGAG	0.577000													12	198					0	0	1	0	0
PTBP1	5725	broad.mit.edu	37	19	804643	804643	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:804643G>A	ENST00000356948.6	+	6	970	c.547G>A	c.(547-549)Gtg>Atg	p.V183M	PTBP1_ENST00000394601.4_Missense_Mutation_p.V183M|PTBP1_ENST00000350092.4_Intron|PTBP1_ENST00000349038.4_Missense_Mutation_p.V183M	NM_002819.4	NP_002810.1	P26599	PTBP1_HUMAN	polypyrimidine tract binding protein 1	183					negative regulation of muscle cell differentiation|nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	mRNA binding|nucleotide binding|poly-pyrimidine tract binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCAGAGCCCCGTGCTCAGGAT	0.677000													18	25					0	0	1	0	0
HECTD1	25831	broad.mit.edu	37	14	31598292	31598292	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr14:31598292G>C	ENST00000399332.1	-	25	4773	c.4285C>G	c.(4285-4287)Ctt>Gtt	p.L1429V	HECTD1_ENST00000553700.1_Missense_Mutation_p.L1429V	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	1429	Ser-rich.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		GCAGATGAAAGAACAACAATT	0.453000													36	55					0	0	1	0	0
TANC1	85461	broad.mit.edu	37	2	160027154	160027154	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:160027154G>T	ENST00000263635.6	+	10	1426	c.1189G>T	c.(1189-1191)Gaa>Taa	p.E397*	TANC1_ENST00000454300.1_Nonsense_Mutation_p.E291*	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	397						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						CCAGATAGAAGAAAACTTGAG	0.468000													21	119					7.21436e-19	8.0572e-19	1	1	0
TBXAS1	6916	broad.mit.edu	37	7	139715540	139715540	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr7:139715540C>G	ENST00000263552.6	+	15	1785	c.1247C>G	c.(1246-1248)gCt>gGt	p.A416G	TBXAS1_ENST00000414508.2_Missense_Mutation_p.A416G|TBXAS1_ENST00000416849.2_Missense_Mutation_p.A462G|TBXAS1_ENST00000458722.1_Missense_Mutation_p.A461G|TBXAS1_ENST00000448866.1_Missense_Mutation_p.A415G|TBXAS1_ENST00000425687.1_Missense_Mutation_p.A348G|TBXAS1_ENST00000411653.1_Missense_Mutation_p.A415G|TBXAS1_ENST00000462275.1_3'UTR|TBXAS1_ENST00000336425.5_Missense_Mutation_p.A415G|TBXAS1_ENST00000436047.2_Missense_Mutation_p.A416G	NM_001130966.2	NP_001124438	P24557	THAS_HUMAN	thromboxane A synthase 1 (platelet)	415			Q -> E (in allele CYP5A1*6; dbSNP:rs4528).		hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)					CGGGAGGCAGCTCAGGACTGC	0.647000													13	85					0	0	1	0	0
GCN1L1	10985	broad.mit.edu	37	12	120576567	120576567	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:120576567C>T	ENST00000300648.6	-	46	6100	c.6088G>A	c.(6088-6090)Gag>Aag	p.E2030K		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	2030					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGCAGCTGCTCGAAAGTCTTG	0.547000													28	102					0	0	1	0	0
LIMA1	51474	broad.mit.edu	37	12	50598415	50598415	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:50598415G>C	ENST00000341247.4	-	6	933	c.784C>G	c.(784-786)Ctc>Gtc	p.L262V	LIMA1_ENST00000552008.1_5'UTR|LIMA1_ENST00000552823.1_Missense_Mutation_p.L102V|LIMA1_ENST00000394943.3_Missense_Mutation_p.L262V|LIMA1_ENST00000552783.1_Missense_Mutation_p.L102V|LIMA1_ENST00000552909.1_Missense_Mutation_p.L102V	NM_001113546.1|NM_016357.4	NP_001107018.1|NP_057441.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	262					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			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						GTTTCTGAGAGGCGTGGAAGT	0.413000													54	62					0	0	1	0	0
CCT2	10576	broad.mit.edu	37	12	69991012	69991012	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:69991012G>T	ENST00000543146.2	+	11	1400	c.918G>T	c.(916-918)atG>atT	p.M306I	CCT2_ENST00000299300.6_Missense_Mutation_p.M353I|CCT2_ENST00000544368.2_Missense_Mutation_p.M353I	NM_001198842.1	NP_001185771.1	P78371	TCPB_HUMAN	chaperonin containing TCP1, subunit 2 (beta)	353					'de novo' posttranslational protein folding	nucleus	ATP binding|unfolded protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1)	24	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			AGGAAGTCATGATTGGAGAAG	0.413000													83	108					7.63117e-38	8.63375e-38	1	1	0
PRKCI	5584	broad.mit.edu	37	3	170020896	170020896	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:170020896C>G	ENST00000295797.4	+	18	2077	c.1772C>G	c.(1771-1773)tCt>tGt	p.S591C		NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	protein kinase C, iota	591	AGC-kinase C-terminal.				anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport	cytosol|endosome|nucleus|polarisome	ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			CTTTTGATGTCTGCAGAAGAA	0.333000													8	40					0	0	1	0	0
KIAA1324	57535	broad.mit.edu	37	1	109715167	109715167	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:109715167G>A	ENST00000369939.3	+	5	856	c.673G>A	c.(673-675)Gag>Aag	p.E225K	KIAA1324_ENST00000529753.1_Missense_Mutation_p.E225K	NM_020775.4	NP_065826	Q6UXG2	K1324_HUMAN	KIAA1324	225					macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		GAAGACCACAGAGAAAGGATG	0.512000													9	30					0	0	1	0	0
RNF31	55072	broad.mit.edu	37	14	24619594	24619594	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr14:24619594G>A	ENST00000324103.6	+	7	1454	c.1134G>A	c.(1132-1134)ctG>ctA	p.L378L	RNF31_ENST00000559275.1_Silent_p.L227L|RNF31_ENST00000382687.3_Silent_p.L227L	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31	378	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			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)		GACCTCGGCTGGCCCAGCCTC	0.567000													53	4					0	0	1	0	0
STK10	6793	broad.mit.edu	37	5	171544538	171544538	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr5:171544538C>T	ENST00000176763.5	-	4	810	c.467G>A	c.(466-468)cGa>cAa	p.R156Q		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	156	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TTTCAGATCTCGGTGGATGAT	0.597000													16	19					0	0	1	0	0
RNF31	55072	broad.mit.edu	37	14	24619469	24619469	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr14:24619469G>A	ENST00000324103.6	+	7	1329	c.1009G>A	c.(1009-1011)Gag>Aag	p.E337K	RNF31_ENST00000559275.1_Missense_Mutation_p.E186K|RNF31_ENST00000382687.3_Missense_Mutation_p.E186K	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31	337	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.E337Q(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)		GTTGGGAACTGAGGGTCCCCA	0.602000													36	2					0	0	1	0	0
TTC37	9652	broad.mit.edu	37	5	94834293	94834293	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr5:94834293G>C	ENST00000358746.2	-	33	3642	c.3344C>G	c.(3343-3345)tCt>tGt	p.S1115C		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	1115							binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						CTTTAAGATAGAGCTGTAAAG	0.433000													11	15					0	0	1	0	0
KIF19	124602	broad.mit.edu	37	17	72350300	72350300	+	Splice_Site	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:72350300G>C	ENST00000389916.4	+	18	2446		c.e18-1			NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19						microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						TCCCGCTGCAGAGAGGAAGGA	0.652000													21	76					0	0	1	0	0
LSG1	55341	broad.mit.edu	37	3	194371614	194371614	+	Nonsense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:194371614G>C	ENST00000265245.5	-	10	1729	c.1415C>G	c.(1414-1416)tCa>tGa	p.S472*		NM_018385.2	NP_060855.2	Q9H089	LSG1_HUMAN	large 60S subunit nuclear export GTPase 1	472					nuclear export|protein transport	Cajal body|endoplasmic reticulum	GTP binding|hydrolase activity			breast(2)|endometrium(3)|large_intestine(2)|lung(9)	16	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)		GGATATTAGTGATACAGGAGG	0.418000													25	49					0	0	1	0	0
KIAA1522	57648	broad.mit.edu	37	1	33237530	33237530	+	Nonsense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:33237530C>G	ENST00000401073.2	+	6	2820	c.2750C>G	c.(2749-2751)tCa>tGa	p.S917*	KIAA1522_ENST00000373480.1_Nonsense_Mutation_p.S858*|KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000373481.3_Nonsense_Mutation_p.S869*	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN	KIAA1522	858	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				AGGGCCCTGTCAGGGCGGGCC	0.706000													4	14					0	0	1	0	0
PHF12	57649	broad.mit.edu	37	17	27246266	27246266	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:27246266C>G	ENST00000577226.1	-	6	1210	c.864G>C	c.(862-864)caG>caC	p.Q288H	PHF12_ENST00000582655.1_5'UTR|PHF12_ENST00000268756.3_Missense_Mutation_p.Q288H|PHF12_ENST00000332830.4_Missense_Mutation_p.Q288H			Q96QT6	PHF12_HUMAN	PHD finger protein 12	288					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			AATAGTCACACTGGATGAGAG	0.502000													7	29					0	0	1	0	0
TC2N	123036	broad.mit.edu	37	14	92253884	92253884	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr14:92253884G>T	ENST00000435962.2	-	10	1458	c.1135C>A	c.(1135-1137)Cca>Aca	p.P379T	TC2N_ENST00000360594.5_Missense_Mutation_p.P379T|TC2N_ENST00000556018.1_Missense_Mutation_p.P315T|TC2N_ENST00000340892.5_Missense_Mutation_p.P379T	NM_001128596.1	NP_001122068	Q8N9U0	TAC2N_HUMAN	tandem C2 domains, nuclear	379	C2.					nucleus				breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		GATGAGCTTGGAAGGTACCGT	0.348000													9	31					3.09899e-07	3.26836e-07	1	1	0
OR5M10	390167	broad.mit.edu	37	11	56344278	56344278	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr11:56344278C>T	ENST00000526812.2	-	1	985	c.920G>A	c.(919-921)gGa>gAa	p.G307E		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	307					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						AAAGGATTTTCCCCTAATCAT	0.373000													75	251					0	0	1	0	0
C2orf53	339779	broad.mit.edu	37	2	27360495	27360495	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:27360495G>T	ENST00000335524.3	-	3	1228	c.703C>A	c.(703-705)Cac>Aac	p.H235N		NM_178553.3	NP_848648.2	Q53SZ7	CB053_HUMAN	chromosome 2 open reading frame 53	235										cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGCCACAGGTGCTGCAAAAGC	0.687000													12	48					1.61879e-10	1.74074e-10	1	1	0
RPS6KA5	9252	broad.mit.edu	37	14	91367073	91367073	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr14:91367073G>C	ENST00000261991.3	-	10	1300	c.1127C>G	c.(1126-1128)tCc>tGc	p.S376C	RPS6KA5_ENST00000418736.2_Missense_Mutation_p.S376C|RPS6KA5_ENST00000536315.2_Missense_Mutation_p.S297C	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5	376	AGC-kinase C-terminal.				axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		AGCAACAAAGGAATAGCCCTA	0.378000													11	17					0	0	1	0	0
SEH1L	81929	broad.mit.edu	37	18	12948141	12948141	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr18:12948141C>T	ENST00000262124.11	+	1	148	c.21C>T	c.(19-21)atC>atT	p.I7I	SEH1L_ENST00000399892.2_Silent_p.I7I	NM_031216.3	NP_112493.2	Q96EE3	SEH1_HUMAN	SEH1-like (S. cerevisiae)	7					attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|carbohydrate metabolic process|cell division|glucose transport|mitotic metaphase plate congression|mitotic prometaphase|mRNA transport|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						CTCGCAGCATCGCGGCGGACC	0.672000													7	14					0	0	1	0	0
OR6N1	128372	broad.mit.edu	37	1	158735776	158735776	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:158735776C>A	ENST00000335094.2	-	1	716	c.697G>T	c.(697-699)Ggc>Tgc	p.G233C		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					TTCCTCTTGCCGGCAGCTGAG	0.498000													32	104					3.62531e-18	4.03156e-18	1	1	0
ESF1	51575	broad.mit.edu	37	20	13763534	13763534	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr20:13763534C>G	ENST00000202816.1	-	2	360	c.253G>C	c.(253-255)Gat>Cat	p.D85H		NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	85					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm				endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						GCTTTGCTATCTTCACCAGAG	0.368000													3	41					0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144942543	144942543	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr8:144942543C>T	ENST00000525985.1	-	2	4950	c.4879G>A	c.(4879-4881)Gag>Aag	p.E1627K				P58107	EPIPL_HUMAN	epiplakin 1	1627						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TTGAACGCCTCCTCCACGGTC	0.637000													22	65					0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	104955043	104955043	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr8:104955043C>T	ENST00000507740.1	+	11	2202	c.1966C>T	c.(1966-1968)Cat>Tat	p.H656Y	RIMS2_ENST00000262231.10_Missense_Mutation_p.H703Y|RIMS2_ENST00000406091.3_Missense_Mutation_p.H864Y|RIMS2_ENST00000436393.2_Missense_Mutation_p.H642Y	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	926					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TGATGAGCCACATTGGTACAA	0.393000										HNSCC(12;0.0054)			11	62					0	0	1	0	0
CCDC157	550631	broad.mit.edu	37	22	30766456	30766456	+	Missense_Mutation	SNP	G	G	C	rs5753102		TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr22:30766456G>C	ENST00000405659.1	+	5	1271	c.562G>C	c.(562-564)Gag>Cag	p.E188Q	CCDC157_ENST00000338306.3_Missense_Mutation_p.E188Q			Q569K6	CC157_HUMAN	coiled-coil domain containing 157	188										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1)	15						CCAAGAGCCAGAGAGCATCCC	0.602000													35	33					0	0	1	0	0
SMARCA4	6597	broad.mit.edu	37	19	11138491	11138491	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:11138491G>A	ENST00000358026.2	+	24	3531	c.3247G>A	c.(3247-3249)Gag>Aag	p.E1083K	SMARCA4_ENST00000589677.1_Missense_Mutation_p.E1083K|SMARCA4_ENST00000450717.3_Missense_Mutation_p.E1083K|SMARCA4_ENST00000444061.3_Missense_Mutation_p.E1083K|SMARCA4_ENST00000413806.3_Missense_Mutation_p.E1083K|SMARCA4_ENST00000541122.2_Missense_Mutation_p.E1083K|SMARCA4_ENST00000344626.4_Missense_Mutation_p.E1083K|SMARCA4_ENST00000590574.1_Missense_Mutation_p.E1083K|SMARCA4_ENST00000429416.3_Missense_Mutation_p.E1083K	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1083					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(2)|p.E1083*(2)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GGGTAAATTTGAGCTTCTTGA	0.517000			"""F, N, Mis"""		NSCLC								64	66					0	0	1	0	0
LOC644669	644669	broad.mit.edu	37	18	15323298	15323298	+	RNA	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr18:15323298G>C	ENST00000455308.2	-	0	550					NR_027417.1																						TTTTTTGTCAGTAAAAATTCC	0.308000													3	17					0	0	1	0	0
EPHA10	284656	broad.mit.edu	37	1	38192853	38192853	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:38192853C>T	ENST00000373048.4	-	8	1692	c.1693G>A	c.(1693-1695)Gcc>Acc	p.A565T	EPHA10_ENST00000427468.2_Missense_Mutation_p.A565T|EPHA10_ENST00000540011.1_Missense_Mutation_p.A60T|EPHA10_ENST00000330210.7_Missense_Mutation_p.A60T|EPHA10_ENST00000446149.2_5'UTR	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	565						extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				ACGACAATGGCGGGGCTCTGG	0.642000													7	22					0	0	1	0	0
ATMIN	23300	broad.mit.edu	37	16	81077671	81077671	+	Nonsense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr16:81077671C>G	ENST00000566488.1	+	3	2063	c.1100C>G	c.(1099-1101)tCa>tGa	p.S367*	ATMIN_ENST00000564241.1_Nonsense_Mutation_p.S367*|ATMIN_ENST00000299575.4_Nonsense_Mutation_p.S523*|ATMIN_ENST00000539819.1_3'UTR			O43313	ATMIN_HUMAN	ATM interactor	523	Required for formation of RAD51 foci.				response to DNA damage stimulus	nucleus	zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						AGTGTTCATTCATCATATAAT	0.393000													26	66					0	0	1	0	0
FAM46C	54855	broad.mit.edu	37	1	118166265	118166265	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:118166265G>C	ENST00000369448.3	+	2	1022	c.775G>C	c.(775-777)Gac>Cac	p.D259H		NM_017709.3	NP_060179.2	Q5VWP2	FA46C_HUMAN	family with sequence similarity 46, member C	259										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	15	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)		CAGGCCCACAGACCAGGAAGA	0.512000			"""Mis, F, O"""		MM					Multiple Myeloma(3;1.13e-06)			16	52					0	0	1	0	0
PTPN14	5784	broad.mit.edu	37	1	214542945	214542945	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:214542945C>T	ENST00000366956.5	-	17	3320	c.3126G>A	c.(3124-3126)acG>acA	p.T1042T	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	1042	Tyrosine-protein phosphatase.				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		TTCGAAACTTCGTGGTGACCT	0.488000													67	153					0	0	1	0	0
SLC22A8	9376	broad.mit.edu	37	11	62760912	62760912	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr11:62760912C>T	ENST00000336232.2	-	10	1648	c.1513G>A	c.(1513-1515)Gaa>Aaa	p.E505K	SLC22A8_ENST00000311438.8_Missense_Mutation_p.E505K|SLC22A8_ENST00000535878.1_Missense_Mutation_p.E382K|SLC22A8_ENST00000430500.2_Missense_Mutation_p.E505K|SLC22A8_ENST00000545207.1_Missense_Mutation_p.E414K	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8	505					response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						TCCAGGTCTTCGATAGTCTCT	0.597000													24	57					0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73677410	73677410	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:73677410C>T	ENST00000264448.6	+	8	3864	c.3753C>T	c.(3751-3753)gtC>gtT	p.V1251V	ALMS1_ENST00000377715.1_Silent_p.V1251V|ALMS1_ENST00000409009.1_Silent_p.V1209V	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1251	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						ACCAACAGGTCTTGCCAGATA	0.483000													72	114					0	0	1	0	0
WDPCP	51057	broad.mit.edu	37	2	63631244	63631244	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:63631244G>A	ENST00000409120.1	-	4	4348	c.798C>T	c.(796-798)atC>atT	p.I266I	WDPCP_ENST00000409199.1_Silent_p.I266I|WDPCP_ENST00000409835.1_5'UTR|WDPCP_ENST00000272321.7_Silent_p.I458I|WDPCP_ENST00000409562.3_Silent_p.I458I|WDPCP_ENST00000398544.3_Silent_p.I299I			O95876	FRITZ_HUMAN	WD repeat containing planar cell polarity effector	458					cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization	cilium axoneme|cytoplasm|cytoskeleton|plasma membrane		p.I458M(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						GGAGATCATAGATATCACTAC	0.393000													113	55					0	0	1	0	0
CEP250	11190	broad.mit.edu	37	20	34086527	34086527	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr20:34086527G>T	ENST00000397527.1	+	27	4479	c.3759G>T	c.(3757-3759)tgG>tgT	p.W1253C	CEP250_ENST00000342580.4_Missense_Mutation_p.W1197C	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	1253	Gln/Glu-rich.				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			AAGACCTGTGGAAGACTCAAC	0.532000													82	22					2.22156e-40	2.51615e-40	1	1	0
MRPS16	51021	broad.mit.edu	37	10	75011600	75011600	+	Silent	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr10:75011600G>C	ENST00000372945.3	-	2	405	c.195C>G	c.(193-195)ctC>ctG	p.L65L	DNAJC9-AS1_ENST00000440197.2_RNA|MRPS16_ENST00000416782.2_Silent_p.L65L|MRPS16_ENST00000372940.3_Silent_p.L65L|MRPS16_ENST00000479005.1_5'UTR	NM_016065.3	NP_057149.1	Q9Y3D3	RT16_HUMAN	mitochondrial ribosomal protein S16	65					translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome			large_intestine(2)|lung(2)	4	Prostate(51;0.0119)					TGAGGGCAACGAGTTTTTCTC	0.537000													57	26					0	0	1	0	0
PRRC2C	23215	broad.mit.edu	37	1	171501557	171501557	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:171501557G>C	ENST00000367742.3	+	12	1572	c.1330G>C	c.(1330-1332)Gat>Cat	p.D444H	PRRC2C_ENST00000338920.4_Missense_Mutation_p.D442H|PRRC2C_ENST00000476522.1_3'UTR|PRRC2C_ENST00000392078.3_Missense_Mutation_p.D444H|PRRC2C_ENST00000426496.2_Missense_Mutation_p.D442H			Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	442							protein C-terminus binding										AGCTGATGAAGATGAAATATG	0.473000													10	29					0	0	1	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85449499	85449499	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:85449499C>A	ENST00000393217.2	+	8	989	c.928C>A	c.(928-930)Caa>Aaa	p.Q310K		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	310	Glu-rich.|IQ 1.									breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		TATTAAAGAGCAAATTGAAAG	0.318000													6	35					5.9392e-07	6.23855e-07	1	1	0
ALMS1	7840	broad.mit.edu	37	2	73678719	73678719	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:73678719C>G	ENST00000264448.6	+	8	5173	c.5062C>G	c.(5062-5064)Ctg>Gtg	p.L1688V	ALMS1_ENST00000377715.1_Missense_Mutation_p.L1688V|ALMS1_ENST00000409009.1_Missense_Mutation_p.L1646V	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1688	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TGAAGAAGCTCTGAAAGTTCC	0.438000													60	110					0	0	1	0	0
PRPF6	24148	broad.mit.edu	37	20	62654184	62654184	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr20:62654184G>C	ENST00000535781.1	+	13	1833	c.1722G>C	c.(1720-1722)aaG>aaC	p.K574N	ZNF512B_ENST00000450537.1_Intron|ZNF512B_ENST00000217130.3_Intron			O94906	PRP6_HUMAN	pre-mRNA processing factor 6	574					assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)					CCAGCAAGAAGAGTGTGTGGC	0.582000													19	58					0	0	1	0	0
BTG2	7832	broad.mit.edu	37	1	203276294	203276294	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:203276294C>G	ENST00000290551.4	+	2	276	c.205C>G	c.(205-207)Cgc>Ggc	p.R69G		NM_006763.2	NP_006754.1	P78543	BTG2_HUMAN	BTG family, member 2	69					DNA repair|neuron projection development|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	p.R69G(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(75;0.203)			CCGCTGCATTCGCATCAACCA	0.612000													15	19					0	0	1	0	0
PLEKHA3	65977	broad.mit.edu	37	2	179360322	179360322	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:179360322G>C	ENST00000234453.5	+	5	952	c.550G>C	c.(550-552)Gag>Cag	p.E184Q		NM_019091.3	NP_061964.3	Q9HB20	PKHA3_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 3							cytoplasm|membrane				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.0266)|all cancers(119;0.0865)			GTTTAAACCTGAGATGTTTCA	0.428000													22	146					0	0	1	0	0
CNIH1	10175	broad.mit.edu	37	14	54898890	54898890	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr14:54898890G>C	ENST00000216416.4	-	3	302	c.199C>G	c.(199-201)Ctt>Gtt	p.L67V	CNIH1_ENST00000395573.4_Missense_Mutation_p.L67V|CNIH1_ENST00000553660.1_Missense_Mutation_p.L44V|CNIH1_ENST00000557690.1_Missense_Mutation_p.L83V|CNIH1_ENST00000556113.1_Missense_Mutation_p.L67V	NM_005776.2	NP_005767.1			cornichon family AMPA receptor auxiliary protein 1	67																	GCTGCACAAAGAAACATGACA	0.388000													3	2					0	0	1	0	0
SUMF1	285362	broad.mit.edu	37	3	4508701	4508701	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:4508701G>C	ENST00000272902.5	-	1	264	c.229C>G	c.(229-231)Ccg>Gcg	p.P77A	SUMF1_ENST00000405420.2_Missense_Mutation_p.P77A|SUMF1_ENST00000458465.2_Missense_Mutation_p.P77A|SUMF1_ENST00000534863.1_Missense_Mutation_p.P77A|SUMF1_ENST00000383843.5_Missense_Mutation_p.P77A	NM_182760.3	NP_877437.2	Q8NBK3	SUMF1_HUMAN	sulfatase modifying factor 1	77						endoplasmic reticulum lumen	metal ion binding|oxidoreductase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(3)	13		Melanoma(143;0.068)|Colorectal(144;0.233)		Epithelial(13;0.0147)|OV - Ovarian serous cystadenocarcinoma(96;0.0444)|all cancers(10;0.0549)		ACGGGGCCCGGAGCGTTAGCC	0.706000													3	9					0	0	1	0	0
INTS7	25896	broad.mit.edu	37	1	212120009	212120009	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:212120009C>T	ENST00000366994.3	-	18	2459	c.2355G>A	c.(2353-2355)ctG>ctA	p.L785L	INTS7_ENST00000366993.3_Silent_p.L771L|INTS7_ENST00000440600.2_Silent_p.L736L|INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000366992.3_Intron	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	785					snRNA processing	integrator complex	protein binding			NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		GGGGAACTTTCAGCAAAGCAA	0.343000													41	25					0	0	1	0	0
SNED1	25992	broad.mit.edu	37	2	242004846	242004846	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:242004846G>A	ENST00000310397.8	+	21	2845	c.2845G>A	c.(2845-2847)Gac>Aac	p.D949N	SNED1_ENST00000405547.3_Missense_Mutation_p.D949N|SNED1_ENST00000342631.6_Missense_Mutation_p.D949N|SNED1_ENST00000401884.1_Missense_Mutation_p.D949N	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	949	Fibronectin type-III 1.				cell-matrix adhesion	extracellular region	calcium ion binding			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		CGTCTCCTCCGACGGCTCCTA	0.647000													11	20					0	0	1	0	0
TEP1	7011	broad.mit.edu	37	14	20856168	20856168	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr14:20856168G>C	ENST00000262715.5	-	18	2620	c.2580C>G	c.(2578-2580)gaC>gaG	p.D860E	TEP1_ENST00000556935.1_Missense_Mutation_p.D752E	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	860					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		TGAATATTTTGTCCATTTGGC	0.507000													14	18					0	0	1	0	0
APH1A	51107	broad.mit.edu	37	1	150240428	150240428	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:150240428G>A	ENST00000360244.4	-	2	705	c.213C>T	c.(211-213)ctC>ctT	p.L71L	APH1A_ENST00000369109.3_Silent_p.L71L|APH1A_ENST00000461320.1_Intron|APH1A_ENST00000414276.2_Intron	NM_016022.3	NP_057106.2	Q96BI3	APH1A_HUMAN	APH1A gamma secretase subunit	71					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 membrane|Golgi cisterna membrane|integral to plasma membrane	protein binding			breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	9	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CAAAAATCAGGAGGCCGTACT	0.557000													20	115					0	0	1	0	0
SCARB1	949	broad.mit.edu	37	12	125284769	125284769	+	Silent	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:125284769G>T	ENST00000339570.5	-	8	1225	c.1029C>A	c.(1027-1029)tcC>tcA	p.S343S	SCARB1_ENST00000415380.2_Silent_p.S343S|SCARB1_ENST00000261693.6_Silent_p.S343S|SCARB1_ENST00000376788.1_Silent_p.S243S|SCARB1_ENST00000546215.1_Silent_p.S343S|SCARB1_ENST00000541205.1_Silent_p.S302S|SCARB1_ENST00000540495.1_Silent_p.S306S|SCARB1_ENST00000535005.1_5'UTR|SCARB1_ENST00000544327.1_Silent_p.S289S	NM_001082959.1	NP_001076428.1	Q8WTV0	SCRB1_HUMAN	scavenger receptor class B, member 1	343					adhesion to symbiont|cell adhesion|cholesterol efflux|cholesterol homeostasis|cholesterol import|detection of lipopolysaccharide|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|lipopolysaccharide transport|lipoprotein metabolic process|positive regulation of cholesterol storage|positive regulation of endothelial cell migration|positive regulation of nitric-oxide synthase activity|recognition of apoptotic cell|reverse cholesterol transport|triglyceride homeostasis|wound healing	caveola	1-phosphatidylinositol binding|apolipoprotein A-I binding|high-density lipoprotein particle receptor activity|lipopolysaccharide receptor activity|low-density lipoprotein particle binding|phosphatidylserine binding|transporter activity	p.S343S(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	Phosphatidylserine(DB00144)	AGTGAGGATGGGAGAGAAACA	0.602000													11	32					5.16669e-11	5.57895e-11	1	1	0
HUWE1	10075	broad.mit.edu	37	X	53575134	53575134	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chrX:53575134G>A	ENST00000342160.3	-	67	10593	c.10136C>T	c.(10135-10137)tCc>tTc	p.S3379F	HUWE1_ENST00000262854.6_Missense_Mutation_p.S3379F			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3379					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						ACTGCTGGAGGACTGTGAGGA	0.507000													5	3					0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133542301	133542301	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:133542301C>A	ENST00000409261.1	-	14	2456	c.2083G>T	c.(2083-2085)Gag>Tag	p.E695*	NCKAP5_ENST00000317721.6_Nonsense_Mutation_p.E695*|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	695							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						ATGGAAATCTCATTTCTGGTA	0.458000													25	111					1.17739e-12	1.28331e-12	1	1	0
OR1E2	8388	broad.mit.edu	37	17	3336869	3336869	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:3336869G>C	ENST00000248384.1	-	1	266	c.267C>G	c.(265-267)gaC>gaG	p.D89E		NM_003554.1	NP_003545.1	P47887	OR1E2_HUMAN	olfactory receptor, family 1, subfamily E, member 2	89					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(3)	9						GGATGGATGGGTCTTGGTTCT	0.483000													19	26					0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100866115	100866115	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr8:100866115G>A	ENST00000358544.2	+	56	10684	c.10573G>A	c.(10573-10575)Gaa>Aaa	p.E3525K	VPS13B_ENST00000357162.2_Missense_Mutation_p.E3500K|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3525					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GTTCAGCTTTGAATTAAAACC	0.383000													41	178					0	0	1	0	0
CPA6	57094	broad.mit.edu	37	8	68536432	68536432	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr8:68536432C>T	ENST00000297770.4	-	2	386	c.171G>A	c.(169-171)aaG>aaA	p.K57K	CPA6_ENST00000518549.1_Silent_p.K57K|CPA6_ENST00000297769.4_5'UTR	NM_020361.4	NP_065094.3	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6	57					proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			AGGATATTTTCTTCAGTGCAT	0.318000													37	15					0	0	1	0	0
TPTE2	93492	broad.mit.edu	37	13	20006667	20006667	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr13:20006667G>C	ENST00000400230.2	-	16	1212	c.1168C>G	c.(1168-1170)Ctc>Gtc	p.L390V	TPTE2_ENST00000400103.2_Missense_Mutation_p.L279V|TPTE2_ENST00000382975.4_Missense_Mutation_p.L350V|TPTE2_ENST00000457266.2_Missense_Mutation_p.L279V|TPTE2_ENST00000390680.2_Missense_Mutation_p.L313V|TPTE2_ENST00000382977.4_Missense_Mutation_p.L390V|TPTE2_ENST00000382978.1_Missense_Mutation_p.L350V|TPTE2_ENST00000255310.6_Missense_Mutation_p.L313V			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	390						endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		CTTGGAGGGAGATTCCAGTTG	0.358000													6	24					0	0	1	0	0
PYCR1	5831	broad.mit.edu	37	17	79893381	79893381	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:79893381C>T	ENST00000337943.5	-	3	592	c.150G>A	c.(148-150)gtG>gtA	p.V50V	PYCR1_ENST00000577756.1_Silent_p.V50V|PYCR1_ENST00000403172.4_Silent_p.V50V|PYCR1_ENST00000329875.8_Silent_p.V50V|PYCR1_ENST00000402252.2_Silent_p.V77V	NM_153824.1	NP_722546.1	P32322	P5CR1_HUMAN	pyrroline-5-carboxylate reductase 1	50					cellular response to oxidative stress|proline biosynthetic process	mitochondrial matrix	binding|pyrroline-5-carboxylate reductase activity			endometrium(2)|kidney(1)|lung(1)|prostate(1)	5	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		L-Proline(DB00172)|NADH(DB00157)	GTGTCAACTTCACCCCCATCT	0.582000													6	16					0	0	1	0	0
C6orf10	10665	broad.mit.edu	37	6	32290900	32290900	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr6:32290900G>C	ENST00000375015.4	-	20	729	c.529C>G	c.(529-531)Ccc>Gcc	p.P177A	C6orf10_ENST00000447241.2_Missense_Mutation_p.P185A|C6orf10_ENST00000375007.4_Missense_Mutation_p.P183A|C6orf10_ENST00000442822.2_Missense_Mutation_p.P162A|C6orf10_ENST00000527965.1_Missense_Mutation_p.P162A|C6orf10_ENST00000533191.1_Missense_Mutation_p.P169A			Q5SRN2	CF010_HUMAN	chromosome 6 open reading frame 10	185						integral to membrane				cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						TTACTTATGGGTGCCATGGGT	0.393000													17	6					0	0	1	0	0
ALX4	60529	broad.mit.edu	37	11	44331236	44331236	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr11:44331236C>T	ENST00000329255.3	-	1	480	c.377G>A	c.(376-378)cGa>cAa	p.R126Q		NM_021926.3	NP_068745.2	Q9H161	ALX4_HUMAN	ALX homeobox 4	126					hair follicle development					central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						GCAGGCGCCTCGCTGCAAGTA	0.726000													4	0					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170050365	170050365	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:170050365C>T	ENST00000263816.3	-	47	9021	c.8736G>A	c.(8734-8736)aaG>aaA	p.K2912K		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2912	LDL-receptor class A 21.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CACCATCACACTTGAACTCAT	0.463000													29	134					0	0	1	0	0
ZZEF1	23140	broad.mit.edu	37	17	4013096	4013096	+	Silent	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:4013096G>C	ENST00000381638.2	-	6	1252	c.1128C>G	c.(1126-1128)ctC>ctG	p.L376L	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	376	DOC.						calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						CAACAGCCCTGAGACCATGAA	0.443000													12	43					0	0	1	0	0
ZNF99	7652	broad.mit.edu	37	19	22939880	22939880	+	Silent	SNP	A	A	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:22939880A>T	ENST00000397104.3	-	6	2450	c.2451T>A	c.(2449-2451)ctT>ctA	p.L817L						zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TATGTTTCTTAAGGGTTGAGG	0.383000													16	102					0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73675948	73675948	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:73675948C>T	ENST00000264448.6	+	8	2402	c.2291C>T	c.(2290-2292)tCa>tTa	p.S764L	ALMS1_ENST00000377715.1_Missense_Mutation_p.S764L|ALMS1_ENST00000409009.1_Missense_Mutation_p.S722L	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	764	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						AGTTCTTACTCACAAAGAGAA	0.458000													134	215					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228558384	228558384	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:228558384C>G	ENST00000570156.2	+	104	23116	c.23042C>G	c.(23041-23043)tCc>tGc	p.S7681C	OBSCN_ENST00000366707.4_Missense_Mutation_p.S4358C|OBSCN_ENST00000422127.1_Missense_Mutation_p.S6724C	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6724	Protein kinase 2.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TCCCAGAAATCCATGCCTGCG	0.632000													18	26					0	0	1	0	0
ARHGEF10L	55160	broad.mit.edu	37	1	18021748	18021748	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:18021748C>T	ENST00000361221.3	+	28	3439	c.3280C>T	c.(3280-3282)Cgg>Tgg	p.R1094W	ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.R1055W|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.R867W|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.R1055W|ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.R797W|ARHGEF10L_ENST00000469726.1_3'UTR	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	1094					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		GCCCGTGCCTCGGCTGGAAGG	0.647000													13	49					0	0	1	0	0
IL21R	50615	broad.mit.edu	37	16	27456025	27456025	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr16:27456025C>A	ENST00000337929.3	+	6	1143	c.670C>A	c.(670-672)Cag>Aag	p.Q224K	IL21R_ENST00000395755.1_Missense_Mutation_p.Q224K|IL21R_ENST00000564583.1_3'UTR|IL21R_ENST00000564089.1_Missense_Mutation_p.Q224K|IL21R_ENST00000395754.4_Missense_Mutation_p.Q224K	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	224					natural killer cell activation	integral to membrane	interleukin-21 receptor activity			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						GGTCATCTTTCAGACCCAGTC	0.582000			T	BCL6	NHL								11	40					0.000673444	0.000686623	1	1	0
TTC21A	199223	broad.mit.edu	37	3	39166841	39166841	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:39166841G>T	ENST00000301819.6	+	11	1411	c.1234G>T	c.(1234-1236)Gcc>Tcc	p.A412S	TTC21A_ENST00000431162.2_Missense_Mutation_p.A412S|TTC21A_ENST00000440121.1_Missense_Mutation_p.A363S	NM_145755.2	NP_665698.2	Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	412							binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TTTCCTCCAAGCCCTCCTGAT	0.562000											OREG0015487	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	29	28					1.75199e-13	1.91359e-13	1	1	0
FAM83H	286077	broad.mit.edu	37	8	144812730	144812730	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr8:144812730G>A	ENST00000388913.3	-	2	148	c.23C>T	c.(22-24)tCc>tTc	p.S8F		NM_198488.3	NP_940890	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	8					biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CCCCTGCGAGGAGCTCTGAGA	0.677000													8	24					0	0	1	0	0
MID2	11043	broad.mit.edu	37	X	107084381	107084381	+	Nonsense_Mutation	SNP	T	T	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chrX:107084381T>A	ENST00000262843.6	+	2	1034	c.486T>A	c.(484-486)tgT>tgA	p.C162*	MID2_ENST00000443968.2_Nonsense_Mutation_p.C162*	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	162						centrosome|microtubule	ligase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						TCTCCTACTGTGACCGTTGCC	0.572000													7	23					0	0	1	0	0
KMO	8564	broad.mit.edu	37	1	241714300	241714300	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:241714300C>G	ENST00000366559.4	+	4	579	c.268C>G	c.(268-270)Ctt>Gtt	p.L90V	KMO_ENST00000366557.4_Missense_Mutation_p.L90V|KMO_ENST00000366558.3_Missense_Mutation_p.L90V|KMO_ENST00000484628.1_3'UTR	NM_003679.4	NP_003670.2	O15229	KMO_HUMAN	kynurenine 3-monooxygenase (kynurenine 3-hydroxylase)	90					pyridine nucleotide biosynthetic process|response to salt stress	cytosol|integral to membrane|mitochondrial outer membrane	electron carrier activity|flavin adenine dinucleotide binding|kynurenine 3-monooxygenase activity|NAD(P)H oxidase activity			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Ovarian(103;0.103)|all_lung(81;0.23)		OV - Ovarian serous cystadenocarcinoma(106;0.0176)			GATCCACTCTCTTTCAGGAAA	0.398000													51	101					0	0	1	0	0
UEVLD	55293	broad.mit.edu	37	11	18555896	18555896	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr11:18555896G>A	ENST00000396197.3	-	11	1257	c.1229C>T	c.(1228-1230)tCt>tTt	p.S410F	UEVLD_ENST00000541984.1_Intron|UEVLD_ENST00000543987.1_Intron|UEVLD_ENST00000540666.1_5'UTR|UEVLD_ENST00000535484.1_Intron|UEVLD_ENST00000320750.6_Intron|UEVLD_ENST00000379387.4_Missense_Mutation_p.S388F	NM_001040697.2|NM_001261384.1	NP_001035787.1|NP_001248313.1	Q8IX04	UEVLD_HUMAN	UEV and lactate/malate dehyrogenase domains	410					cellular carbohydrate metabolic process|protein modification process|protein transport		binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						AGCTGATACAGAATGCACTTT	0.299000													4	44					0	0	1	0	0
BBS10	79738	broad.mit.edu	37	12	76740913	76740913	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:76740913C>G	ENST00000393262.3	-	2	935	c.852G>C	c.(850-852)caG>caC	p.Q284H		NM_024685.3	NP_078961.3	Q8TAM1	BBS10_HUMAN	Bardet-Biedl syndrome 10	284					cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	cilium	ATP binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						ATTGAGATGTCTGAAACTGTG	0.348000									Bardet-Biedl syndrome				16	20					0	0	1	0	0
SCD5	79966	broad.mit.edu	37	4	83552481	83552481	+	Nonstop_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr4:83552481C>G	ENST00000319540.4	-	5	1311	c.992G>C	c.(991-993)tGa>tCa	p.*331S		NM_001037582.2	NP_001032671.2	Q86SK9	SCD5_HUMAN	stearoyl-CoA desaturase 5	0					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	13		Colorectal(4;0.0323)|Hepatocellular(203;0.115)				GTTCCAAGTTCAAGCACTGCT	0.562000													5	17					0	0	1	0	0
QRICH2	84074	broad.mit.edu	37	17	74274098	74274098	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:74274098G>C	ENST00000262765.5	-	15	4770	c.4591C>G	c.(4591-4593)Cag>Gag	p.Q1531E		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	1531							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						CCCAGGCACTGGGCGTGCAGC	0.627000													24	71					0	0	1	0	0
COPZ2	51226	broad.mit.edu	37	17	46111232	46111232	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:46111232C>T	ENST00000006101.4	-	4	258	c.259G>A	c.(259-261)Gag>Aag	p.E87K	COPZ2_ENST00000584666.1_5'UTR	NM_016429.2	NP_057513.1	Q9P299	COPZ2_HUMAN	coatomer protein complex, subunit zeta 2	89					intracellular protein transport|vesicle-mediated transport	cis-Golgi network|COPI vesicle coat				lung(3)|upper_aerodigestive_tract(1)	4						CACTTACTCTCAGTCCGGCTG	0.483000													7	5					0	0	1	0	0
SLC38A2	54407	broad.mit.edu	37	12	46764968	46764968	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:46764968G>A	ENST00000256689.5	-	2	553	c.109C>T	c.(109-111)Ctg>Ttg	p.L37L	SLC38A2_ENST00000547252.1_5'UTR	NM_018976.4	NP_061849.2	Q96QD8	S38A2_HUMAN	solute carrier family 38, member 2	37	Regulates protein turnover upon amino acid deprivation (By similarity).				cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	18	Lung SC(27;0.192)|Renal(347;0.236)		OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)		CACCTTTTCAGAGCAGCTTGC	0.488000													8	127					0	0	1	0	0
AAR2	25980	broad.mit.edu	37	20	34828499	34828499	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr20:34828499G>C	ENST00000373932.3	+	2	1055	c.709G>C	c.(709-711)Gag>Cag	p.E237Q	AAR2_ENST00000397286.3_Missense_Mutation_p.E237Q|AAR2_ENST00000320849.4_Missense_Mutation_p.E237Q	NM_015511.3	NP_056326.2			AAR2 splicing factor homolog (S. cerevisiae)																		CTATGCCCTGGAGACTGTGCT	0.577000													12	46					0	0	1	0	0
AASS	10157	broad.mit.edu	37	7	121773712	121773712	+	Missense_Mutation	SNP	T	T	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr7:121773712T>A	ENST00000393376.1	-	1	164	c.69A>T	c.(67-69)aaA>aaT	p.K23N	AASS_ENST00000417368.2_Missense_Mutation_p.K23N|AASS_ENST00000473553.1_Intron			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	23					protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54					L-Glutamic Acid(DB00142)|NADH(DB00157)	CCAACACAGCTTTGTGGTGAA	0.557000													107	72					0	0	1	0	0
PLEKHA4	57664	broad.mit.edu	37	19	49341304	49341304	+	Nonstop_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:49341304C>G	ENST00000355496.5	-	16	2128	c.1751G>C	c.(1750-1752)tGa>tCa	p.*584S	PLEKHA4_ENST00000263265.6_Missense_Mutation_p.E683Q	NM_001161354.1	NP_001154826.1	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	0						cytoplasm|membrane	1-phosphatidylinositol binding			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)		TGCGACGCCTCAGTAGCCAGG	0.557000													14	94					0	0	1	0	0
TAAR5	9038	broad.mit.edu	37	6	132910508	132910508	+	Silent	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr6:132910508G>C	ENST00000258034.2	-	1	369	c.318C>G	c.(316-318)ctC>ctG	p.L106L		NM_003967.2	NP_003958.2	O14804	TAAR5_HUMAN	trace amine associated receptor 5	106					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	32	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)		GCAGGCGGCAGAGGAAGTCCC	0.592000													30	31					0	0	1	0	0
TEAD3	7005	broad.mit.edu	37	6	35443426	35443426	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr6:35443426G>A	ENST00000338863.7	-	11	1185	c.958C>T	c.(958-960)Cag>Tag	p.Q320*	TEAD3_ENST00000402886.3_Nonsense_Mutation_p.Q260*	NM_003214.3	NP_003205	Q99594	TEAD3_HUMAN	TEA domain family member 3	320	Transcriptional activation (Potential).				female pregnancy|hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	10						GAGCTGTACTGAGAGCTGACC	0.612000													18	39					0	0	1	0	0
LAMB1	3912	broad.mit.edu	37	7	107564523	107564523	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr7:107564523C>G	ENST00000393561.1	-	32	5490	c.5306G>C	c.(5305-5307)aGa>aCa	p.R1769T	LAMB1_ENST00000222399.6_Missense_Mutation_p.R1745T			P07942	LAMB1_HUMAN	laminin, beta 1	1745	Domain I.				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			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)	TTCATATTTTCTTTCTAAATC	0.303000													29	17					0	0	1	0	0
CLASP2	23122	broad.mit.edu	37	3	33614798	33614798	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:33614798C>G	ENST00000399362.4	-	26	2880	c.2527G>C	c.(2527-2529)Gat>Cat	p.D843H	CLASP2_ENST00000461133.3_Missense_Mutation_p.D602H|CLASP2_ENST00000307312.7_Missense_Mutation_p.D324H|CLASP2_ENST00000480013.1_Missense_Mutation_p.D623H|CLASP2_ENST00000359576.5_Missense_Mutation_p.D835H|CLASP2_ENST00000468888.2_Missense_Mutation_p.D844H|CLASP2_ENST00000539981.1_Missense_Mutation_p.D613H	NM_015097.2	NP_055912.2	B2RTR1	B2RTR1_HUMAN	cytoplasmic linker associated protein 2	844										breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						TTGGCGTCATCATCTGAATGC	0.393000													32	54					0	0	1	0	0
ZNF761	388561	broad.mit.edu	37	19	53958226	53958226	+	RNA	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:53958226G>C	ENST00000454407.1	+	0	918							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		ACATATTTCAGACCGAAGAGA	0.388000													79	210					0	0	1	0	0
C20orf144	128864	broad.mit.edu	37	20	32251518	32251518	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr20:32251518G>C	ENST00000375222.3	+	2	369	c.307G>C	c.(307-309)Gag>Cag	p.E103Q	NECAB3_ENST00000246190.6_Intron|NECAB3_ENST00000375238.4_Intron	NM_080825.3	NP_543015.1	Q9BQM9	CT144_HUMAN	chromosome 20 open reading frame 144	103										lung(1)	1						GCGGCGGCAAGAGGCGCGGCG	0.766000													2	3					0	0	1	0	0
KIRREL2	84063	broad.mit.edu	37	19	36357214	36357214	+	Silent	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:36357214C>A	ENST00000360202.5	+	15	2145	c.1947C>A	c.(1945-1947)gtC>gtA	p.V649V	KIRREL2_ENST00000347900.6_Intron|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000592409.1_Silent_p.V614V|KIRREL2_ENST00000262625.7_Intron	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	649	Pro-rich.				cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TGGGCATGGTCCCCCCCTGCA	0.627000													17	106					1.37285e-15	1.51537e-15	1	1	0
FHOD1	29109	broad.mit.edu	37	16	67263797	67263797	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr16:67263797G>A	ENST00000258201.4	-	21	3558	c.3311C>T	c.(3310-3312)tCa>tTa	p.S1104L		NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	1104					actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		GATCTCATCTGATGTATCACT	0.582000													7	118					0	0	1	0	0
ASH1L	55870	broad.mit.edu	37	1	155448304	155448304	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:155448304G>C	ENST00000368346.3	-	3	4996	c.4357C>G	c.(4357-4359)Ctt>Gtt	p.L1453V	ASH1L_ENST00000392403.3_Missense_Mutation_p.L1453V			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1453					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CTGGTTGTAAGAAAGGCCTCC	0.493000													26	112					0	0	1	0	0
TBCK	93627	broad.mit.edu	37	4	107170104	107170104	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr4:107170104C>T	ENST00000273980.5	-	9	1141	c.694G>A	c.(694-696)Gag>Aag	p.E232K	TBCK_ENST00000361687.4_Missense_Mutation_p.E169K|TBCK_ENST00000394706.3_Missense_Mutation_p.E193K|TBCK_ENST00000432496.2_Missense_Mutation_p.E232K|TBCK_ENST00000394708.2_Missense_Mutation_p.E232K			Q8TEA7	TBCK_HUMAN	TBC1 domain containing kinase		Protein kinase.					intracellular	Rab GTPase activator activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						CAACCATGCTCTTCAGCCAGA	0.313000													18	15					0	0	1	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232650028	232650028	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:232650028T>C	ENST00000366630.1	-	2	1416	c.1058A>G	c.(1057-1059)aAa>aGa	p.K353R	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.K353R			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	353					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GTTTTTCCTTTTCCCCACATT	0.493000													20	87					0	0	1	0	0
PARP10	84875	broad.mit.edu	37	8	145059158	145059158	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr8:145059158C>G	ENST00000313028.7	-	5	1106	c.1012G>C	c.(1012-1014)Ggt>Cgt	p.G338R	PARP10_ENST00000525773.1_Missense_Mutation_p.G350R|PARP10_ENST00000524918.1_Missense_Mutation_p.G338R|PARP10_ENST00000533665.1_5'UTR	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	338						Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCCATGGGACCTGTCCTCAGA	0.612000													65	68					0	0	1	0	0
ZNF665	79788	broad.mit.edu	37	19	53668107	53668107	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:53668107C>T	ENST00000600412.1	-	2	1556	c.1441G>A	c.(1441-1443)Gat>Aat	p.D481N	ZNF665_ENST00000396424.3_Missense_Mutation_p.D546N			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	481					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		TTGCCGCAATCATTACATTTG	0.388000													175	81					0	0	1	0	0
INPP5D	3635	broad.mit.edu	37	2	234072504	234072504	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:234072504C>T	ENST00000359570.5	+	14	1356	c.1356C>T	c.(1354-1356)atC>atT	p.I452I	INPP5D_ENST00000455936.2_Silent_p.I216I|INPP5D_ENST00000450745.1_Silent_p.I216I|INPP5D_ENST00000538935.1_Silent_p.I451I			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	464					apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		GGCTGGAGATCCTCAAACACT	0.552000													31	6					0	0	1	0	0
MYOM1	8736	broad.mit.edu	37	18	3129355	3129355	+	Missense_Mutation	SNP	T	T	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr18:3129355T>A	ENST00000400569.3	-	18	3002	c.2669A>T	c.(2668-2670)aAc>aTc	p.N890I	MYOM1_ENST00000356443.4_Missense_Mutation_p.N890I|MYOM1_ENST00000582016.1_5'UTR|MYOM1_ENST00000261606.7_Intron			P52179	MYOM1_HUMAN	myomesin 1	890						striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TTGGCCCAGGTTTTGAGAGCT	0.522000											OREG0024838	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	39	122					0	0	1	0	0
TRAPPC9	83696	broad.mit.edu	37	8	140744407	140744407	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr8:140744407C>T	ENST00000389328.4	-	22	3402	c.3388G>A	c.(3388-3390)Gtg>Atg	p.V1130M	TRAPPC9_ENST00000438773.2_Missense_Mutation_p.V1032M|TRAPPC9_ENST00000389327.3_Missense_Mutation_p.V1023M|TRAPPC9_ENST00000522504.1_5'UTR	NM_031466.5	NP_113654.4	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	1032					cell differentiation	endoplasmic reticulum|Golgi apparatus				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						CAGGCCGCCACAGCCTCGCGG	0.716000													11	17					0	0	1	0	0
CAMSAP2	23271	broad.mit.edu	37	1	200708985	200708985	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:200708985G>C	ENST00000358823.2	+	1	300	c.30G>C	c.(28-30)atG>atC	p.M10I	CAMSAP2_ENST00000236925.4_Missense_Mutation_p.M10I|CAMSAP2_ENST00000413307.2_Missense_Mutation_p.M10I	NM_203459.1	NP_982284.1	Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	10						cytoplasm|microtubule	protein binding										CCAGGGAGATGAGAAAGACGT	0.592000													7	14					0	0	1	0	0
SHROOM4	57477	broad.mit.edu	37	X	50377284	50377284	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chrX:50377284G>A	ENST00000376020.2	-	4	1814	c.1789C>T	c.(1789-1791)Cag>Tag	p.Q597*	SHROOM4_ENST00000460112.3_Nonsense_Mutation_p.Q481*|SHROOM4_ENST00000289292.7_Nonsense_Mutation_p.Q597*	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	597					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					TTCCTCCTCTGAATTTCATTA	0.582000													27	1					0	0	1	0	0
GAB4	128954	broad.mit.edu	37	22	17468986	17468986	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr22:17468986G>A	ENST00000400588.1	-	3	657	c.550C>T	c.(550-552)Cag>Tag	p.Q184*	GAB4_ENST00000523144.1_Intron	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	184										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				GGGAGGTGCTGATGGGAGCAG	0.612000													21	19					0	0	1	0	0
CTDSPL	10217	broad.mit.edu	37	3	38017309	38017309	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:38017309G>A	ENST00000443503.2	+	6	836	c.596G>A	c.(595-597)cGc>cAc	p.R199H	CTDSPL_ENST00000273179.5_Missense_Mutation_p.R210H|CTDSPL_ENST00000310189.3_3'UTR	NM_005808.2	NP_005799.2	O15194	CTDSL_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase-like	210	FCP1 homology.					nucleus	metal ion binding|phosphoprotein phosphatase activity			breast(1)|endometrium(2)|large_intestine(4)|skin(1)	8		Melanoma(1037;0.0122)		KIRC - Kidney renal clear cell carcinoma(284;0.0729)|Kidney(284;0.0902)		GACCTGAGTCGCCTTGGGCGG	0.527000													4	63					0	0	1	0	0
C17orf80	55028	broad.mit.edu	37	17	71231891	71231891	+	Silent	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:71231891G>T	ENST00000359042.2	+	3	464	c.270G>T	c.(268-270)gtG>gtT	p.V90V	C17orf80_ENST00000426147.2_Silent_p.V90V|C17orf80_ENST00000577615.1_Silent_p.V90V|FAM104A_ENST00000583178.1_Intron|C17orf80_ENST00000535032.2_Silent_p.V90V|C17orf80_ENST00000268942.8_Silent_p.V90V|C17orf80_ENST00000255557.4_Silent_p.V90V|C17orf80_ENST00000582793.1_Intron	NM_017941.4	NP_060411	Q9BSJ5	CQ080_HUMAN	chromosome 17 open reading frame 80	90						integral to membrane				kidney(1)|large_intestine(5)|lung(2)|skin(2)|stomach(2)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(166;0.197)			AACAGACAGTGAAGACCTTTC	0.388000													19	36					5.03518e-11	5.44259e-11	1	1	0
CLYBL	171425	broad.mit.edu	37	13	100518572	100518572	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr13:100518572T>C	ENST00000376355.3	+	5	642	c.611T>C	c.(610-612)cTc>cCc	p.L204P	CLYBL_ENST00000376354.1_Missense_Mutation_p.L204P|CLYBL_ENST00000444838.2_Missense_Mutation_p.L204P|CLYBL_ENST00000339105.4_Missense_Mutation_p.L238P|CLYBL_ENST00000376360.1_Missense_Mutation_p.L238P	NM_206808.2	NP_996531.1	Q8N0X4	CLYBL_HUMAN	citrate lyase beta like	238					cellular aromatic compound metabolic process	citrate lyase complex|mitochondrion	citrate (pro-3S)-lyase activity|metal ion binding			NS(1)|kidney(6)|large_intestine(6)|lung(10)|skin(2)	25	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GCCTTTGGTCTCCAAGCCATA	0.473000													21	67					0	0	1	0	0
C9orf84	158401	broad.mit.edu	37	9	114510461	114510461	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr9:114510461C>T	ENST00000394779.3	-	5	816	c.572G>A	c.(571-573)gGa>gAa	p.G191E	C9orf84_ENST00000374283.5_Missense_Mutation_p.G294E|C9orf84_ENST00000374287.3_Missense_Mutation_p.G230E|C9orf84_ENST00000394777.4_Missense_Mutation_p.G191E|C9orf84_ENST00000318737.4_Missense_Mutation_p.G230E	NM_001080551.1	NP_001074020.1	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	230										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						ATCCTCAATTCCATGCTTGTT	0.353000													19	36					0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51175982	51175982	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr16:51175982C>G	ENST00000251020.4	-	2	184	c.151G>C	c.(151-153)Gag>Cag	p.E51Q	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_5'UTR	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	51					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E51K(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TCAAAGAACTCGGCACAGCAC	0.453000													107	55					0	0	1	0	0
L3HYPDH	112849	broad.mit.edu	37	14	59950883	59950883	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr14:59950883C>T	ENST00000247194.4	-	1	265	c.152G>A	c.(151-153)cGg>cAg	p.R51Q	RP11-701B16.2_ENST00000554253.1_RNA	NM_144581.1	NP_653182.1			L-3-hydroxyproline dehydratase (trans-)																		CATGTAGCGCCGCTTGGCCAG	0.701000											OREG0022712	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	6					0	0	1	0	0
KIDINS220	57498	broad.mit.edu	37	2	8933973	8933973	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:8933973G>A	ENST00000256707.3	-	12	1424	c.1243C>T	c.(1243-1245)Cag>Tag	p.Q415*	KIDINS220_ENST00000418530.1_Nonsense_Mutation_p.Q373*|KIDINS220_ENST00000319688.5_Nonsense_Mutation_p.Q416*|KIDINS220_ENST00000473731.1_Nonsense_Mutation_p.Q415*|KIDINS220_ENST00000427284.1_Nonsense_Mutation_p.Q415*	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	415					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				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)					ATACTCTTCTGATGGCTACAG	0.358000													7	70					0	0	1	0	0
ART1	417	broad.mit.edu	37	11	3680949	3680949	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr11:3680949C>A	ENST00000250693.1	+	3	301	c.200C>A	c.(199-201)aCg>aAg	p.T67K		NM_004314.2	NP_004305.2	P52961	NAR1_HUMAN	ADP-ribosyltransferase 1	67					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1)	8		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)	Becaplermin(DB00102)	CTCAACCACACGGAGTTCCAG	0.602000													8	4					0.000274275	0.000280466	1	1	0
ANKRD11	29123	broad.mit.edu	37	16	89348054	89348054	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr16:89348054C>G	ENST00000301030.4	-	9	5356	c.4896G>C	c.(4894-4896)aaG>aaC	p.K1632N	ANKRD11_ENST00000378330.2_Missense_Mutation_p.K1632N	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1632	Lys-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CCAGACCCTTCTTCCGCCCGT	0.572000													10	126					0	0	1	0	0
ERBB4	2066	broad.mit.edu	37	2	212248420	212248420	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:212248420C>G	ENST00000342788.4	-	28	4157	c.3847G>C	c.(3847-3849)Gaa>Caa	p.E1283Q	ERBB4_ENST00000436443.1_Missense_Mutation_p.E1267Q|ERBB4_ENST00000402597.1_Missense_Mutation_p.E1273Q	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	1283					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		GAGAGGTATTCAGGATTCTCT	0.502000										TSP Lung(8;0.080)			11	31					0	0	1	0	0
EPN2	22905	broad.mit.edu	37	17	19235231	19235231	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:19235231C>G	ENST00000314728.5	+	10	1961	c.1477C>G	c.(1477-1479)Caa>Gaa	p.Q493E	EPN2_ENST00000575595.1_Missense_Mutation_p.Q201E|EPN2_ENST00000395626.1_Intron|EPN2_ENST00000395620.2_Missense_Mutation_p.Q436E|EPN2_ENST00000395618.3_Missense_Mutation_p.Q208E|EPN2_ENST00000347697.2_Missense_Mutation_p.Q436E|EPN2_ENST00000571254.1_Missense_Mutation_p.Q429E	NM_014964.4	NP_055779.2	O95208	EPN2_HUMAN	epsin 2	493	6 X 3 AA repeats of [DE]-P-W.				endocytosis		lipid binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	19	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)					CTTTGAGTCTCAACCCCTGAC	0.572000													33	134					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11049474	11049474	+	RNA	SNP	T	T	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr21:11049474T>A	ENST00000470054.1	-	0	634									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CACTTTGCACTCAGGACATTG	0.418000													12	116					0	0	1	0	0
SPTBN4	57731	broad.mit.edu	37	19	41066206	41066206	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:41066206G>A	ENST00000352632.3	+	27	5898	c.5812G>A	c.(5812-5814)Gtc>Atc	p.V1938I	SPTBN4_ENST00000595535.1_Missense_Mutation_p.V1938I|SPTBN4_ENST00000598249.1_Missense_Mutation_p.V1938I|SPTBN4_ENST00000392023.1_Missense_Mutation_p.V614I|SPTBN4_ENST00000392025.1_Missense_Mutation_p.V681I|SPTBN4_ENST00000338932.3_Missense_Mutation_p.V1938I			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1938					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCGCCTGCATGTCAGCTCCAC	0.647000													33	120					0	0	1	0	0
CHRAC1	54108	broad.mit.edu	37	8	141525224	141525224	+	Splice_Site	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr8:141525224G>C	ENST00000220913.5	+	3	476		c.e3-1		CHRAC1_ENST00000519533.1_Splice_Site	NM_017444.5	NP_059140.1	Q9NRG0	CHRC1_HUMAN	chromatin accessibility complex 1						chromatin remodeling	chromatin accessibility complex|epsilon DNA polymerase complex	DNA-directed DNA polymerase activity|sequence-specific DNA binding			ovary(2)	2	all_cancers(97;5.52e-16)|all_epithelial(106;1.22e-13)|Lung NSC(106;4.09e-06)|all_lung(105;6e-06)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.107)			ATGTTTTTAAGATATATTACC	0.333000													14	204					0	0	1	0	0
SLC4A1AP	22950	broad.mit.edu	37	2	27886635	27886635	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:27886635C>A	ENST00000326019.6	+	1	298	c.16C>A	c.(16-18)Cgc>Agc	p.R6S	SUPT7L_ENST00000337768.5_5'UTR	NM_018158.2	NP_060628.2	Q9BWU0	NADAP_HUMAN	solute carrier family 4 (anion exchanger), member 1, adaptor protein	6						cytoplasm|nucleus	double-stranded RNA binding|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.155)					AGCACCACTTCGCAACGCTCC	0.517000													37	164					2.2871e-25	2.57917e-25	1	1	0
CLIP1	6249	broad.mit.edu	37	12	122825453	122825453	+	Silent	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:122825453G>C	ENST00000358808.2	-	10	2419	c.2265C>G	c.(2263-2265)ctC>ctG	p.L755L	CLIP1_ENST00000302528.7_Silent_p.L755L|CLIP1_ENST00000537178.1_Silent_p.L720L|CLIP1_ENST00000361654.4_Intron|CLIP1_ENST00000545889.1_Intron|CLIP1_ENST00000540338.1_Silent_p.L766L	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	766					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		CAGTAGCCTTGAGCTGTGATG	0.408000													52	108					0	0	1	0	0
ZNF878	729747	broad.mit.edu	37	19	12156003	12156003	+	Silent	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:12156003G>C	ENST00000602107.1	-	5	353	c.354C>G	c.(352-354)ctC>ctG	p.L118L	ZNF878_ENST00000547628.1_Silent_p.L71L|CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron			C9JN71	ZN878_HUMAN	zinc finger protein 878	71					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						TACTTTCAGAGAGTCTCTCCC	0.353000													10	16					0	0	1	0	0
MGAT4C	25834	broad.mit.edu	37	12	86374166	86374166	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:86374166C>A	ENST00000604798.1	-	8	1542	c.338G>T	c.(337-339)gGa>gTa	p.G113V	MGAT4C_ENST00000552435.2_Intron|MGAT4C_ENST00000549405.2_Missense_Mutation_p.G113V|MGAT4C_ENST00000393205.2_Missense_Mutation_p.G142V|MGAT4C_ENST00000332156.1_Missense_Mutation_p.G113V|MGAT4C_ENST00000548651.1_Missense_Mutation_p.G113V|MGAT4C_ENST00000552808.2_Missense_Mutation_p.G113V			Q9UBM8	MGT4C_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)	113					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						TAAATAGTTTCCTTTTTTTCG	0.328000													21	21					8.34094e-07	8.73493e-07	1	1	0
KIAA2026	158358	broad.mit.edu	37	9	5954074	5954074	+	Missense_Mutation	SNP	T	T	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr9:5954074T>G	ENST00000399933.3	-	4	2233	c.2234A>C	c.(2233-2235)aAa>aCa	p.K745T	KIAA2026_ENST00000381461.2_Missense_Mutation_p.K745T	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	745	Lys-rich.									breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		TGTGATTGCTTTTTTAGAGAC	0.308000													2	1					0	0	1	0	0
SOCS7	30837	broad.mit.edu	37	17	36523881	36523881	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:36523881C>T	ENST00000577233.1	+	6	1308	c.1308C>T	c.(1306-1308)ctC>ctT	p.L436L	SOCS7_ENST00000331159.5_Silent_p.L402L	NM_014598.2	NP_055413.1	O14512	SOCS7_HUMAN	suppressor of cytokine signaling 7	436	Mediates interaction with SORBS3.|SH2.				intracellular signal transduction|negative regulation of signal transduction|regulation of growth	cytoplasm|nucleus|plasma membrane	protein binding|SH3 domain binding			central_nervous_system(1)|endometrium(1)|kidney(1)|prostate(1)|skin(5)	9	Breast(7;3.47e-17)					TCCTGAGCCTCAGTTTCCGAT	0.483000													17	42					0	0	1	0	0
CEBPB	1051	broad.mit.edu	37	20	48807986	48807986	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr20:48807986A>G	ENST00000303004.3	+	1	611	c.416A>G	c.(415-417)tAc>tGc	p.Y139C		NM_005194.3	NP_005185.2	P17676	CEBPB_HUMAN	CCAAT/enhancer binding protein (C/EBP), beta	139					acute-phase response|immune response		sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|lung(1)	2			BRCA - Breast invasive adenocarcinoma(9;5.72e-08)|STAD - Stomach adenocarcinoma(23;0.19)			GAGTACGGCTACGTGAGCCTG	0.761000													2	0					0	0	1	0	0
HEPACAM2	253012	broad.mit.edu	37	7	92848468	92848468	+	Missense_Mutation	SNP	T	T	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr7:92848468T>A	ENST00000394468.2	-	2	453	c.376A>T	c.(376-378)Att>Ttt	p.I126F	HEPACAM2_ENST00000440868.1_Missense_Mutation_p.I114F|HEPACAM2_ENST00000453812.2_Missense_Mutation_p.I149F|HEPACAM2_ENST00000341723.4_Missense_Mutation_p.I114F	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	126						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						TTTCCCTGAATGTTGACCTTC	0.483000													23	72					0	0	1	0	0
TXNDC11	51061	broad.mit.edu	37	16	11773080	11773080	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr16:11773080C>G	ENST00000356957.3	-	13	3036	c.2929G>C	c.(2929-2931)Gaa>Caa	p.E977Q	TXNDC11_ENST00000283033.5_Missense_Mutation_p.E950Q|TXNDC11_ENST00000570917.1_5'UTR			Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	977					cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane				endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						TTATTCCTTTCAGACACCAGT	0.478000													14	44					0	0	1	0	0
TFAP2D	83741	broad.mit.edu	37	6	50740451	50740451	+	Silent	SNP	A	A	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr6:50740451A>G	ENST00000008391.3	+	8	1461	c.1233A>G	c.(1231-1233)aaA>aaG	p.K411K		NM_172238.3	NP_758438.2	Q7Z6R9	AP2D_HUMAN	transcription factor AP-2 delta (activating enhancer binding protein 2 delta)	411							DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					ACTTGGAAAAACACACTACTC	0.502000													16	28					0	0	1	0	0
ANKRD36	375248	broad.mit.edu	37	2	97866080	97866080	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:97866080G>A	ENST00000420699.2	+	45	3009	c.2765G>A	c.(2764-2766)cGg>cAg	p.R922Q	ANKRD36_ENST00000461153.2_Missense_Mutation_p.R922Q	NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	922										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						GTGTCTTCTCGGAAAAAACCA	0.338000													13	85					0	0	1	0	0
CCNL2	81669	broad.mit.edu	37	1	1325663	1325663	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:1325663C>T	ENST00000400809.3	-	8	958	c.953G>A	c.(952-954)gGg>gAg	p.G318E	CCNL2_ENST00000505849.1_5'UTR|CCNL2_ENST00000408952.5_Missense_Mutation_p.G96E	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN	cyclin L2	318					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		CTGTGTGCCCCCAGGCAACAG	0.572000													22	119					0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40433168	40433168	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:40433168G>A	ENST00000221347.6	-	2	1108	c.1101C>T	c.(1099-1101)atC>atT	p.I367I		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	367	IgGFc-binding.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TCAGCCCGCTGATAGCCTTCG	0.612000													20	42					0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24669900	24669900	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr10:24669900G>C	ENST00000376454.3	+	3	487	c.457G>C	c.(457-459)Gag>Cag	p.E153Q	KIAA1217_ENST00000430453.2_Missense_Mutation_p.E74Q|KIAA1217_ENST00000376462.1_Missense_Mutation_p.E73Q|KIAA1217_ENST00000376452.3_Missense_Mutation_p.E153Q|KIAA1217_ENST00000458595.1_Missense_Mutation_p.E153Q	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	153					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						AGCCATGTCTGAGGGGGATGC	0.552000													31	29					0	0	1	0	0
TRPM1	4308	broad.mit.edu	37	15	31352839	31352839	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr15:31352839C>G	ENST00000542188.1	-	10	1535	c.1222G>C	c.(1222-1224)Gta>Cta	p.V408L	TRPM1_ENST00000256552.6_Missense_Mutation_p.V391L|TRPM1_ENST00000397795.2_Missense_Mutation_p.V369L	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	369					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GGAGCAGATACGTTTGTTCCT	0.562000													6	11					0	0	1	0	0
ZNF550	162972	broad.mit.edu	37	19	58058594	58058594	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:58058594C>T	ENST00000325134.5	-	3	1078	c.922G>A	c.(922-924)Gag>Aag	p.E308K	ZNF550_ENST00000506609.2_Missense_Mutation_p.E299K|ZNF549_ENST00000594943.1_Intron|ZNF550_ENST00000457177.1_Missense_Mutation_p.E340K|ZNF549_ENST00000602149.1_Intron|ZNF550_ENST00000601415.1_Intron			Q7Z398	ZN550_HUMAN	zinc finger protein 550	340					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	7		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TAGGGCTTCTCTCCAGTGTGG	0.478000													12	44					0	0	1	0	0
MLF1	4291	broad.mit.edu	37	3	158314723	158314723	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:158314723G>C	ENST00000359117.5	+	3	429	c.193G>C	c.(193-195)Gaa>Caa	p.E65Q	MLF1_ENST00000482628.1_Missense_Mutation_p.E65Q|MLF1_ENST00000478894.2_Missense_Mutation_p.E80Q|MLF1_ENST00000497004.1_3'UTR|MLF1_ENST00000484955.1_Missense_Mutation_p.E65Q|MLF1_ENST00000469452.1_Missense_Mutation_p.E65Q|MLF1_ENST00000355893.5_Missense_Mutation_p.E90Q|MLF1_ENST00000392822.3_Missense_Mutation_p.E121Q|MLF1_ENST00000471745.1_Missense_Mutation_p.E80Q	NM_001130156.2	NP_001123628.1	P58340	MLF1_HUMAN	myeloid leukemia factor 1	90	Interaction with COPS3.				cell cycle arrest|myeloid progenitor cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein domain specific binding			large_intestine(3)	3		Melanoma(1037;0.000458)|Prostate(884;0.0235)|all_neural(597;0.0299)	Lung(72;0.00199)|LUSC - Lung squamous cell carcinoma(72;0.00256)			GCAGAAATTAGAAAGAAACTT	0.308000			T	NPM1	AML								20	6					0	0	1	0	0
COL16A1	1307	broad.mit.edu	37	1	32140871	32140871	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:32140871G>A	ENST00000373672.3	-	43	3330	c.2814C>T	c.(2812-2814)ctC>ctT	p.L938L	COL16A1_ENST00000271069.6_Silent_p.L937L	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	938	Triple-helical region 4 (COL4) with 2 imperfections.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			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)		GTTCTGCAGTGAGCCCAGGCT	0.617000													11	15					0	0	1	0	0
SERINC5	256987	broad.mit.edu	37	5	79473155	79473155	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr5:79473155G>C	ENST00000507668.2	-	4	589	c.439C>G	c.(439-441)Cag>Gag	p.Q147E	SERINC5_ENST00000512721.1_Missense_Mutation_p.Q147E|SERINC5_ENST00000512972.2_Missense_Mutation_p.Q147E|SERINC5_ENST00000513907.1_5'UTR|SERINC5_ENST00000509193.1_Missense_Mutation_p.Q147E	NM_001174071.1|NM_178276.5	NP_001167542.1|NP_840060.1	Q86VE9	SERC5_HUMAN	serine incorporator 5	147					phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity	endoplasmic reticulum membrane|integral to membrane				endometrium(3)|kidney(1)|lung(3)|ovary(1)	8		Lung NSC(167;0.00328)|all_lung(232;0.00356)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;2.93e-46)|Epithelial(54;5.59e-40)|all cancers(79;1.89e-34)		AAGGTGTCCTGATCTGGAATG	0.413000													29	4					0	0	1	0	0
WDR66	144406	broad.mit.edu	37	12	122392093	122392093	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:122392093C>T	ENST00000288912.4	+	10	2242	c.1388C>T	c.(1387-1389)tCa>tTa	p.S463L	WDR66_ENST00000397454.2_Missense_Mutation_p.S463L	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	463							calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		CAAATACTCTCAGCCACAATG	0.438000													36	69					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179514605	179514605	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:179514605C>G	ENST00000589042.1	-	211	40058	c.39834G>C	c.(39832-39834)aaG>aaC	p.K13278N	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.K11771N|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K10844N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11625	Ig-like 88.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGATGATCTTCTTGGGCTCTT	0.338000													41	78					0	0	1	0	0
TIMELESS	8914	broad.mit.edu	37	12	56817644	56817644	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:56817644G>C	ENST00000229201.4	-	16	2054	c.1900C>G	c.(1900-1902)Caa>Gaa	p.Q634E	TIMELESS_ENST00000554616.1_Intron|TIMELESS_ENST00000553532.1_Missense_Mutation_p.Q635E	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN	timeless circadian clock	635					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						GAAATGTCTTGAGAGCCAAAC	0.473000													32	52					0	0	1	0	0
NOTCH2	4853	broad.mit.edu	37	1	120539834	120539834	+	Silent	SNP	A	A	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:120539834A>G	ENST00000256646.2	-	4	756	c.537T>C	c.(535-537)tgT>tgC	p.C179C	NOTCH2_ENST00000602566.1_Silent_p.C140C	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	179	EGF-like 4.				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	p.C179*(1)|p.C140*(1)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CATCAGTCTCACATTTCTGCC	0.552000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				15	116					0	0	1	0	0
FER1L5	90342	broad.mit.edu	37	2	97369274	97369274	+	RNA	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:97369274G>A	ENST00000457909.1	+	0	5209							A0AVI2	FR1L5_HUMAN	fer-1-like 5 (C. elegans)							integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38						AGGTGAAGATGAGCCTGGAGA	0.572000													4	57					0	0	1	0	0
YTHDC1	91746	broad.mit.edu	37	4	69202901	69202901	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr4:69202901C>G	ENST00000344157.4	-	4	1062	c.727G>C	c.(727-729)Gag>Cag	p.E243Q	YTHDC1_ENST00000355665.3_Missense_Mutation_p.E243Q|YTHDC1_ENST00000579690.1_Missense_Mutation_p.E243Q	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	243	Glu-rich.									NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						tcctcctcctcctcctcctct	0.483000													7	31					0	0	1	0	0
CCDC36	339834	broad.mit.edu	37	3	49293674	49293674	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:49293674G>A	ENST00000438782.1	+	8	980	c.744G>A	c.(742-744)ctG>ctA	p.L248L	CCDC36_ENST00000452691.2_Silent_p.L248L|CCDC36_ENST00000296449.5_Silent_p.L248L			Q8IYA8	CCD36_HUMAN	coiled-coil domain containing 36	248										endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|urinary_tract(3)	14				BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262)		TAGGCCAGCTGAATGTGCCCA	0.507000													37	23					0	0	1	0	0
KIAA1109	84162	broad.mit.edu	37	4	123274148	123274148	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr4:123274148G>C	ENST00000264501.4	+	81	14312	c.13939G>C	c.(13939-13941)Gaa>Caa	p.E4647Q	KIAA1109_ENST00000388738.3_Missense_Mutation_p.E4647Q			Q2LD37	K1109_HUMAN	KIAA1109	4647					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TCCATTACCAGAAGATGGAAT	0.413000													20	33					0	0	1	0	0
KIAA1324	57535	broad.mit.edu	37	1	109715160	109715160	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:109715160G>T	ENST00000369939.3	+	5	849	c.666G>T	c.(664-666)aaG>aaT	p.K222N	KIAA1324_ENST00000529753.1_Missense_Mutation_p.K222N	NM_020775.4	NP_065826	Q6UXG2	K1324_HUMAN	KIAA1324	222					macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		GGTGGATGAAGACCACAGAGA	0.502000													8	30					0.0477658	0.0479961	1	1	0
USP19	10869	broad.mit.edu	37	3	49153551	49153551	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:49153551G>C	ENST00000453664.1	-	10	1688	c.1370C>G	c.(1369-1371)tCt>tGt	p.S457C	USP19_ENST00000434032.2_Missense_Mutation_p.S467C|USP19_ENST00000398898.2_Missense_Mutation_p.S404C|USP19_ENST00000398896.1_Missense_Mutation_p.S172C|USP19_ENST00000398888.2_Missense_Mutation_p.S366C|USP19_ENST00000417901.1_Missense_Mutation_p.S467C|USP19_ENST00000398892.3_Missense_Mutation_p.S404C	NM_001199161.1|NM_001199162.1	NP_001186090.1|NP_001186091.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	366					ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GTCGATGCGAGAAGCCGTGAA	0.572000													3	16					0	0	1	0	0
INPP5J	27124	broad.mit.edu	37	22	31522449	31522449	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr22:31522449C>A	ENST00000331075.5	+	3	1408	c.1359C>A	c.(1357-1359)agC>agA	p.S453R	INPP5J_ENST00000404390.3_Missense_Mutation_p.S85R|INPP5J_ENST00000412277.2_Missense_Mutation_p.S386R|INPP5J_ENST00000400294.2_Missense_Mutation_p.S86R|INPP5J_ENST00000405300.1_Missense_Mutation_p.S86R	NM_001284285.1	NP_001271214.1	Q15735	PI5PA_HUMAN	inositol polyphosphate-5-phosphatase J	453	Catalytic (Potential).					cytoplasm|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|SH3 domain binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						GTGACGACAGCGACGGCGCAG	0.672000													30	60					1.7881e-09	1.91294e-09	1	1	0
NIPBL	25836	broad.mit.edu	37	5	37016225	37016225	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr5:37016225G>A	ENST00000282516.8	+	23	5228	c.4729G>A	c.(4729-4731)Gaa>Aaa	p.E1577K	NIPBL_ENST00000448238.2_Missense_Mutation_p.E1577K	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1577					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			CAATAAGCCTGAATGGCCAGC	0.368000													57	34					0	0	1	0	0
RNF31	55072	broad.mit.edu	37	14	24620038	24620038	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr14:24620038G>A	ENST00000324103.6	+	8	1749	c.1429G>A	c.(1429-1431)Gag>Aag	p.E477K	RNF31_ENST00000559275.1_Missense_Mutation_p.E326K|RNF31_ENST00000382687.3_Missense_Mutation_p.E326K	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31	477	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			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)		TGGAGATCCTGAGAAGCAGCG	0.632000													28	1					0	0	1	0	0
PIGM	93183	broad.mit.edu	37	1	160000857	160000857	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:160000857G>C	ENST00000368090.2	-	1	926	c.673C>G	c.(673-675)Cgg>Ggg	p.R225G		NM_145167.2	NP_660150.1	Q9H3S5	PIGM_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class M	225					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane				kidney(1)|large_intestine(4)|lung(9)|ovary(2)|skin(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AGCACAGCCCGATTACACAGC	0.488000													35	127					0	0	1	0	0
TAF2	6873	broad.mit.edu	37	8	120768248	120768248	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr8:120768248G>A	ENST00000378164.2	-	22	3174	c.2876C>T	c.(2875-2877)tCt>tTt	p.S959F	TAF2_ENST00000519355.1_5'UTR	NM_003184.3	NP_003175	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	959					G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TCTCTCACCAGAATTCATAAG	0.323000													29	75					0	0	1	0	0
CCDC144NL	339184	broad.mit.edu	37	17	20768765	20768765	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:20768765C>A	ENST00000327925.5	-	4	748	c.629G>T	c.(628-630)aGa>aTa	p.R210I	CCDC144NL_ENST00000539484.1_5'UTR	NM_001004306.1	NP_001004306.1	Q6NUI1	C144L_HUMAN	coiled-coil domain containing 144 family, N-terminal like	210										large_intestine(3)|lung(3)|skin(1)	7						CTTCCCCTTTCTTTTTCCTCT	0.368000													36	45					1.60099e-16	1.77282e-16	1	1	0
PLCH2	9651	broad.mit.edu	37	1	2435841	2435841	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:2435841C>G	ENST00000378486.3	+	22	3714	c.3440C>G	c.(3439-3441)tCc>tGc	p.S1147C	PLCH2_ENST00000378488.3_Missense_Mutation_p.S1111C|PLCH2_ENST00000419816.2_Missense_Mutation_p.S1147C|PLCH2_ENST00000449969.1_3'UTR	NM_014638.2	NP_055453.2	O75038	PLCH2_HUMAN	phospholipase C, eta 2	1147					intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		TCCTCCTCCTCCAGCATGTCA	0.662000													8	41					0	0	1	0	0
TNFSF14	8740	broad.mit.edu	37	19	6665079	6665079	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:6665079G>A	ENST00000326176.9	-	5	854	c.473C>T	c.(472-474)tCc>tTc	p.S158F	TNFSF14_ENST00000599359.1_Missense_Mutation_p.S194F|TNFSF14_ENST00000245912.3_Missense_Mutation_p.S158F	NM_003807.3|NM_172014.2	NP_003798.2|NP_742011.2	O43557	TNF14_HUMAN	tumor necrosis factor (ligand) superfamily, member 14	194					cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation	cytoplasm|extracellular space|integral to membrane|plasma membrane	caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						CCAGACCCGGGAGCTGCTGGT	0.657000													26	56					0	0	1	0	0
ACTN4	81	broad.mit.edu	37	19	39208629	39208629	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:39208629G>A	ENST00000252699.2	+	11	1282	c.1206G>A	c.(1204-1206)ctG>ctA	p.L402L	ACTN4_ENST00000424234.2_Intron|ACTN4_ENST00000390009.3_Silent_p.L183L	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	actinin, alpha 4	402					platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis	extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex	actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			AGTGGCTGCTGAATGAGATCC	0.627000													5	10					0	0	1	0	0
ZFPM1	161882	broad.mit.edu	37	16	88594547	88594547	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr16:88594547G>T	ENST00000319555.3	+	6	935	c.613G>T	c.(613-615)Gag>Tag	p.E205*	RP11-21B21.4_ENST00000563243.1_RNA	NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN	zinc finger protein, FOG family member 1	205					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|transcription factor binding|zinc ion binding			central_nervous_system(1)|ovary(2)|urinary_tract(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0478)		TGTGAAGAAGGAGCCAGCAGA	0.697000													4	11					0.014758	0.0148722	1	1	0
ZNF836	162962	broad.mit.edu	37	19	52663800	52663800	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:52663800C>T	ENST00000322146.8	-	4	581	c.60G>A	c.(58-60)gaG>gaA	p.E20E	CTC-471J1.8_ENST00000594362.1_RNA|ZNF836_ENST00000597252.1_Silent_p.E20E|ZNF836_ENST00000597065.1_Silent_p.E20E	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	20	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						ATTTCCACTCCTCCTGAGAGA	0.438000													55	195					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34113731	34113731	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr15:34113731G>A	ENST00000389232.4	+	80	10993	c.10923G>A	c.(10921-10923)atG>atA	p.M3641I	RYR3_ENST00000415757.3_Missense_Mutation_p.M3636I	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3641					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CAGGTGAGATGAGCCCCATGG	0.527000													11	29					0	0	1	0	0
DCAF6	55827	broad.mit.edu	37	1	168035698	168035698	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:168035698G>C	ENST00000367840.3	+	20	2774	c.2680G>C	c.(2680-2682)Gat>Cat	p.D894H	DCAF6_ENST00000312263.6_Missense_Mutation_p.D803H|DCAF6_ENST00000367843.3_Missense_Mutation_p.D823H|DCAF6_ENST00000432587.2_Missense_Mutation_p.D863H	NM_001198956.1	NP_001185885.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	803					positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						AAAACTTGCTGATGAAGTAAG	0.289000													4	55					0	0	1	0	0
MLH1	4292	broad.mit.edu	37	3	37035095	37035095	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:37035095C>T	ENST00000231790.2	+	1	273	c.57C>T	c.(55-57)atC>atT	p.I19I		NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	19			I -> F (in HNPCC2; uncertain pathogenicity).		mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						TGAACCGCATCGCGGCGGGGG	0.567000		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				15	34					0	0	1	0	0
ZNF543	125919	broad.mit.edu	37	19	57835137	57835137	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:57835137G>C	ENST00000321545.4	+	2	451	c.106G>C	c.(106-108)Gag>Cag	p.E36Q		NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN	zinc finger protein 543	36	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CTTGTATCAGGAGGTGATGCT	0.527000													26	66					0	0	1	0	0
UGP2	7360	broad.mit.edu	37	2	64112904	64112904	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:64112904G>C	ENST00000337130.5	+	6	1233	c.757G>C	c.(757-759)Gat>Cat	p.D253H	UGP2_ENST00000394417.2_Missense_Mutation_p.D242H|UGP2_ENST00000467648.2_Missense_Mutation_p.D242H|UGP2_ENST00000487469.1_3'UTR|UGP2_ENST00000445915.2_Missense_Mutation_p.D262H	NM_006759.3	NP_006750.3	Q16851	UGPA_HUMAN	UDP-glucose pyrophosphorylase 2	253					glycogen biosynthetic process|phosphorylation|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	metal ion binding|protein binding|UTP:glucose-1-phosphate uridylyltransferase activity			endometrium(2)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)	18						GTCTAACATAGATAATCTGGG	0.388000													31	172					0	0	1	0	0
WNT3A	89780	broad.mit.edu	37	1	228210569	228210569	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:228210569C>T	ENST00000284523.1	+	2	351	c.273C>T	c.(271-273)gtC>gtT	p.V91V	WNT3A_ENST00000366753.2_Silent_p.V91V	NM_033131.3	NP_149122.1	P56704	WNT3A_HUMAN	wingless-type MMTV integration site family, member 3A	91					axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway	cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		Prostate(94;0.0405)				GCACCACCGTCCACGACAGCC	0.642000													21	27					0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12364770	12364770	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:12364770G>C	ENST00000358136.3	+	26	6554	c.6424G>C	c.(6424-6426)Gag>Cag	p.E2142Q	VPS13D_ENST00000356315.4_Missense_Mutation_p.E2142Q	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	2142					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TGTTGGCCAAGAGTCCAGTAG	0.522000													39	14					0	0	1	0	0
BOD1L1	259282	broad.mit.edu	37	4	13604756	13604756	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr4:13604756C>G	ENST00000040738.5	-	10	3903	c.3768G>C	c.(3766-3768)ttG>ttC	p.L1256F		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	1256							DNA binding										CTGTGTTTTTCAAATTCTTCT	0.393000													6	58					0	0	1	0	0
ATP6V1B1	525	broad.mit.edu	37	2	71189921	71189921	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:71189921T>C	ENST00000234396.4	+	9	873	c.800T>C	c.(799-801)aTc>aCc	p.I267T	ATP6V1B1_ENST00000412314.1_Missense_Mutation_p.I267T|AC007040.11_ENST00000606025.1_Intron	NM_001692.3	NP_001683.2	P15313	VATB1_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1	267					ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport	apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						GAGCGGATCATCACCCCGCGC	0.587000													9	116					0	0	1	0	0
LTN1	26046	broad.mit.edu	37	21	30307437	30307437	+	Silent	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr21:30307437G>T	ENST00000389194.2	-	27	5012	c.5007C>A	c.(5005-5007)ggC>ggA	p.G1669G	LTN1_ENST00000361371.5_Silent_p.G1623G	NM_015565.2	NP_056380.2	O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	1623							ligase activity|zinc ion binding	p.G1623G(1)		NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						TAACCGTCATGCCATTAAATA	0.313000													13	47					4.36969e-10	4.6892e-10	1	1	0
PRKD2	25865	broad.mit.edu	37	19	47195050	47195050	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:47195050G>A	ENST00000433867.1	-	13	2121	c.1644C>T	c.(1642-1644)gtC>gtT	p.V548V	PRKD2_ENST00000595515.1_Silent_p.V548V|PRKD2_ENST00000291281.4_Silent_p.V548V|PRKD2_ENST00000600194.1_Silent_p.V391V|PRKD2_ENST00000601806.1_Silent_p.V391V	NM_001079880.1|NM_001079881.1|NM_016457.4	NP_001073349|NP_001073350|NP_057541	Q9BZL6	KPCD2_HUMAN	protein kinase D2	548					cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		AGATCTGGTAGACAGTGGCAA	0.577000													27	57					0	0	1	0	0
SCN1B	6324	broad.mit.edu	37	19	35530030	35530030	+	Missense_Mutation	SNP	A	A	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:35530030A>T	ENST00000262631.5	+	4	595	c.458A>T	c.(457-459)gAc>gTc	p.D153V	SCN1B_ENST00000596348.1_3'UTR|SCN1B_ENST00000595652.1_Missense_Mutation_p.D82V	NM_001037.4	NP_001028.1	Q07699	SCN1B_HUMAN	sodium channel, voltage-gated, type I, beta subunit	153					axon guidance|synaptic transmission	integral to membrane	voltage-gated sodium channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)	11	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GCCAACAGAGACATGGCATCC	0.532000													97	85					0	0	1	0	0
LY9	4063	broad.mit.edu	37	1	160766040	160766040	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:160766040G>A	ENST00000368037.5	+	1	177	c.63G>A	c.(61-63)caG>caA	p.Q21Q	LY9_ENST00000392203.4_Silent_p.Q21Q|LY9_ENST00000368039.2_Silent_p.Q21Q|LY9_ENST00000263285.6_Silent_p.Q21Q|LY9_ENST00000368041.2_5'UTR|LY9_ENST00000341032.4_Silent_p.Q21Q|LY9_ENST00000471816.1_3'UTR|LY9_ENST00000368040.1_5'UTR	NM_001261456.1|NM_002348.3	NP_001248385.1|NP_002339.2	Q9HBG7	LY9_HUMAN	lymphocyte antigen 9						cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			GTAAGCCACAGAGGAGTCAGC	0.498000													29	112					0	0	1	0	0
NOL9	79707	broad.mit.edu	37	1	6585981	6585981	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:6585981C>G	ENST00000377705.5	-	12	2074	c.2042G>C	c.(2041-2043)aGa>aCa	p.R681T		NM_024654.4	NP_078930	Q5SY16	NOL9_HUMAN	nucleolar protein 9	681					maturation of 5.8S rRNA	nucleolus	ATP binding|polynucleotide 5'-hydroxyl-kinase activity|RNA binding			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(2)|urinary_tract(1)	19	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649)		CTCAGGTTCTCTTGCTCCAAT	0.423000													40	128					0	0	1	0	0
OGFOD1	55239	broad.mit.edu	37	16	56504661	56504661	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr16:56504661G>A	ENST00000566157.1	+	10	1366	c.1243G>A	c.(1243-1245)Gag>Aag	p.E415K	OGFOD1_ENST00000568397.1_Missense_Mutation_p.E372K	NM_018233.3	NP_060703.3	Q8N543	OGFD1_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 1	415							iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8					Vitamin C(DB00126)	ACAGAGCAATGAGCAGACAGA	0.443000													3	14					0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104142822	104142822	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:104142822G>A	ENST00000388887.2	+	59	6530	c.6326G>A	c.(6325-6327)aGc>aAc	p.S2109N	RP11-341G23.4_ENST00000551299.1_RNA	NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	2109	EGF-like 16.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GTCTCCTGCAGCTGCCAGAAG	0.587000													22	62					0	0	1	0	0
RALYL	138046	broad.mit.edu	37	8	85441685	85441685	+	Silent	SNP	A	A	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr8:85441685A>G	ENST00000521268.1	+	2	1234	c.129A>G	c.(127-129)tcA>tcG	p.S43S	RALYL_ENST00000517638.1_Silent_p.S56S|RALYL_ENST00000521695.1_Silent_p.S43S|RALYL_ENST00000522455.1_Silent_p.S43S|RALYL_ENST00000518566.1_Silent_p.S43S	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	43	RRM.						identical protein binding|nucleotide binding|RNA binding			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						CCATTTTTTCAAAGTATGGAA	0.408000													16	17					0	0	1	0	0
PTEN	5728	broad.mit.edu	37	10	89725134	89725134	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr10:89725134G>A	ENST00000371953.3	+	9	2474	c.1117G>A	c.(1117-1119)Gaa>Aaa	p.E373K		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	373					activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TAGTGACAATGAACCTGATCA	0.388000		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			10	17					0	0	1	0	0
OR2Z1	284383	broad.mit.edu	37	19	8841489	8841489	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:8841489C>T	ENST00000324060.2	+	1	174	c.99C>T	c.(97-99)gtC>gtT	p.V33V		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	33					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TGGTGGCTGTCATGTTTGTCA	0.552000													36	66					0	0	1	0	0
SCN1B	6324	broad.mit.edu	37	19	35524749	35524749	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:35524749C>G	ENST00000415950.3	+	3	554	c.554C>G	c.(553-555)gCc>gGc	p.A185G	SCN1B_ENST00000596348.1_Intron|SCN1B_ENST00000595652.1_Intron|SCN1B_ENST00000262631.5_Intron	NM_199037.3	NP_950238.1	Q07699	SCN1B_HUMAN	sodium channel, voltage-gated, type I, beta subunit	0					axon guidance|synaptic transmission	integral to membrane	voltage-gated sodium channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)	11	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GCCTGGCCAGCCAACCGCCCA	0.672000													3	46					0	0	1	0	0
PRRC1	133619	broad.mit.edu	37	5	126862374	126862374	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr5:126862374C>T	ENST00000442138.2	+	4	704	c.558C>T	c.(556-558)acC>acT	p.T186T	PRRC1_ENST00000296666.8_Silent_p.T186T|PRRC1_ENST00000512635.2_Silent_p.T186T			Q96M27	PRRC1_HUMAN	proline-rich coiled-coil 1	186						Golgi apparatus				endometrium(1)|large_intestine(1)|lung(4)	6		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0851)|Epithelial(69;0.113)		GAACTGGAACCACATCAGCCA	0.413000													16	17					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186083224	186083224	+	Missense_Mutation	SNP	G	G	T	rs138705216	by1000genomes	TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:186083224G>T	ENST00000271588.4	+	73	11474	c.11245G>T	c.(11245-11247)Gat>Tat	p.D3749Y	HMCN1_ENST00000367492.2_Missense_Mutation_p.D3749Y	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3749	Ig-like C2-type 36.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ATGGAGAAAGGATGGAGCTGT	0.388000													38	35					9.8876e-21	1.10546e-20	1	1	0
RASSF8	11228	broad.mit.edu	37	12	26217937	26217937	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:26217937G>C	ENST00000405154.2	+	3	809	c.610G>C	c.(610-612)Gag>Cag	p.E204Q	RASSF8_ENST00000282884.9_Missense_Mutation_p.E204Q|RASSF8_ENST00000542865.1_Missense_Mutation_p.E204Q|RASSF8_ENST00000381352.3_Missense_Mutation_p.E204Q|RASSF8_ENST00000541490.1_Missense_Mutation_p.E204Q	NM_001164748.1	NP_001158220.1	Q8NHQ8	RASF8_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 8	204	Glu-rich.				signal transduction					cervix(2)|endometrium(1)|large_intestine(6)|lung(15)|urinary_tract(1)	25	Colorectal(261;0.0847)					CAACCTTGAAGAGGAAATTGT	0.363000													7	58					0	0	1	0	0
RIC8B	55188	broad.mit.edu	37	12	107209010	107209010	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:107209010G>C	ENST00000392837.4	+	3	820	c.669G>C	c.(667-669)gaG>gaC	p.E223D	RIC8B_ENST00000355478.2_Missense_Mutation_p.E183D|RIC8B_ENST00000392839.2_Missense_Mutation_p.E223D|RIC8B_ENST00000549643.1_Intron			Q9NVN3	RIC8B_HUMAN	RIC8 guanine nucleotide exchange factor B	223					regulation of G-protein coupled receptor protein signaling pathway	cell cortex|cytosol|plasma membrane	G-protein alpha-subunit binding|guanyl-nucleotide exchange factor activity			kidney(2)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	19						CACCTCAGGAGACAGACTGTG	0.478000													47	72					0	0	1	0	0
PCDH7	5099	broad.mit.edu	37	4	30723251	30723251	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr4:30723251G>T	ENST00000361762.2	+	1	1215	c.207G>T	c.(205-207)gaG>gaT	p.E69D	PCDH7_ENST00000543491.1_Missense_Mutation_p.E69D	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	69	Cadherin 1.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						TCAGCCTGGAGTCCGGTTCCG	0.647000													6	34					3.59834e-05	3.71602e-05	1	1	0
CRMP1	1400	broad.mit.edu	37	4	5851128	5851128	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr4:5851128C>G	ENST00000324989.7	-	6	1042	c.954G>C	c.(952-954)ttG>ttC	p.L318F	CRMP1_ENST00000512574.1_Missense_Mutation_p.L202F|CRMP1_ENST00000397890.2_Missense_Mutation_p.L204F|CRMP1_ENST00000511535.1_5'UTR	NM_001014809.1	NP_001014809.1	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1	204					axon guidance|pyrimidine base catabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding			NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		CCTGAGCTATCAAATCTCCAT	0.458000													15	59					0	0	1	0	0
CSPG4	1464	broad.mit.edu	37	15	75980516	75980516	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr15:75980516C>G	ENST00000308508.5	-	3	2982	c.2890G>C	c.(2890-2892)Gac>Cac	p.D964H		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	964	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).|Interaction with COL6A2 (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			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						CGCAACAGGTCTTCATTGGTG	0.572000													5	111					0	0	1	0	0
GTF3C2	2976	broad.mit.edu	37	2	27559164	27559164	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:27559164G>C	ENST00000359541.2	-	8	1685	c.1256C>G	c.(1255-1257)tCc>tGc	p.S419C	AC109828.1_ENST00000608473.1_RNA|AC109828.1_ENST00000416453.2_RNA|GTF3C2_ENST00000264720.3_Missense_Mutation_p.S419C|AC109828.1_ENST00000592265.1_RNA|AC109828.1_ENST00000585326.1_RNA			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa	419						transcription factor TFIIIC complex				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTCAGGGCTGGAGAAAAGAGC	0.617000													33	133					0	0	1	0	0
VGF	7425	broad.mit.edu	37	7	100808035	100808035	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr7:100808035C>T	ENST00000249330.2	-	2	329	c.90G>A	c.(88-90)gcG>gcA	p.A30A	VGF_ENST00000445482.2_Silent_p.A30A	NM_003378.3	NP_003369.2	O15240	VGF_HUMAN	VGF nerve growth factor inducible	30					response to cAMP	extracellular space|transport vesicle	growth factor activity			cervix(1)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	9	Lung NSC(181;0.168)|all_lung(186;0.215)					GAGGAGGCTGCGCCTCAGGGC	0.652000													4	21					0	0	1	0	0
CCDC176	80127	broad.mit.edu	37	14	74514682	74514682	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr14:74514682C>T	ENST00000394009.3	+	7	820	c.697C>T	c.(697-699)Cag>Tag	p.Q233*	AC005484.5_ENST00000492026.1_RNA|CCDC176_ENST00000489323.1_3'UTR|CCDC176_ENST00000553773.1_5'UTR	NM_025057.2	NP_079333.2			coiled-coil domain containing 176																		TGATTATCTTCAGAAAGCTCT	0.363000													12	17					0	0	1	0	0
SPEN	23013	broad.mit.edu	37	1	16262749	16262749	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:16262749G>A	ENST00000375759.3	+	11	10218	c.10014G>A	c.(10012-10014)aaG>aaA	p.K3338K		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	3338	Pro-rich.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CCCGGACCAAGACAGCTGCTC	0.592000													29	31					0	0	1	0	0
CELF2	10659	broad.mit.edu	37	10	11047353	11047353	+	Translation_Start_Site	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr10:11047353G>T	ENST00000379261.4	+	1	95	c.3G>T	c.(1-3)atG>atT	p.M1I	CELF2_ENST00000416382.2_Start_Codon_SNP_p.M1I	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN	CUGBP, Elav-like family member 2	1	Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						ATAGAAGCATGCGCTGTCCCA	0.438000													38	216					1.15505e-17	1.28175e-17	1	1	0
ITSN1	6453	broad.mit.edu	37	21	35147080	35147080	+	Silent	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr21:35147080G>T	ENST00000381318.3	+	13	1641	c.1353G>T	c.(1351-1353)cgG>cgT	p.R451R	ITSN1_ENST00000379960.5_Silent_p.R451R|ITSN1_ENST00000381291.4_Silent_p.R451R|ITSN1_ENST00000399353.1_Silent_p.R414R|ITSN1_ENST00000399367.3_Silent_p.R451R|ITSN1_ENST00000399352.1_Silent_p.R451R|ITSN1_ENST00000399338.4_Silent_p.R451R|ITSN1_ENST00000399355.2_Silent_p.R451R|ITSN1_ENST00000399349.1_Silent_p.R451R|ITSN1_ENST00000437442.2_Silent_p.R451R|ITSN1_ENST00000381285.4_Silent_p.R451R|ITSN1_ENST00000399326.3_Silent_p.R451R|AP000304.12_ENST00000429238.1_Intron	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	451	KLERQ.				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			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						AGTGGGAACGGAATCGAAGGC	0.368000													17	43					1.5739e-10	1.69422e-10	1	1	0
WSCD2	9671	broad.mit.edu	37	12	108603968	108603968	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:108603968G>T	ENST00000332082.4	+	5	1386	c.568G>T	c.(568-570)Gtg>Ttg	p.V190L	WSCD2_ENST00000547525.1_Missense_Mutation_p.V190L|WSCD2_ENST00000549903.1_Missense_Mutation_p.V190L|WSCD2_ENST00000261400.3_Missense_Mutation_p.V190L			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	190	WSC 1.					integral to membrane				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						GGCGACGAACGTGAGCGAGGC	0.672000													3	24					0.115264	0.115264	1	1	0
FOXP2	93986	broad.mit.edu	37	7	114299708	114299708	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr7:114299708C>T	ENST00000408937.3	+	14	2076	c.1702C>T	c.(1702-1704)Cgt>Tgt	p.R568C	FOXP2_ENST00000393500.3_3'UTR|FOXP2_ENST00000393494.2_Missense_Mutation_p.R543C|FOXP2_ENST00000393491.3_Missense_Mutation_p.R358C|FOXP2_ENST00000350908.4_Missense_Mutation_p.R543C|FOXP2_ENST00000393489.3_Missense_Mutation_p.R451C|FOXP2_ENST00000403559.4_Missense_Mutation_p.R560C|FOXP2_ENST00000393498.2_Missense_Mutation_p.R522C	NM_001172766.2|NM_014491.3|NM_148898.3	NP_001166237.1|NP_055306.1|NP_683696.2	O15409	FOXP2_HUMAN	forkhead box P2	543					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			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						TTACTTCAGGCGTAATGCAGC	0.393000													17	91					0	0	1	0	0
CCDC19	25790	broad.mit.edu	37	1	159857685	159857685	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:159857685C>G	ENST00000426543.2	-	5	734	c.279G>C	c.(277-279)caG>caC	p.Q93H	CCDC19_ENST00000368099.4_Missense_Mutation_p.Q178H|CCDC19_ENST00000476696.1_5'UTR			Q9UL16	CCD19_HUMAN	coiled-coil domain containing 19	178						mitochondrion|soluble fraction				endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			TGTTGGCTCTCTGCAGGAGGT	0.552000													94	101					0	0	1	0	0
CACNB4	785	broad.mit.edu	37	2	152728976	152728976	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:152728976C>G	ENST00000360283.6	-	5	708	c.451G>C	c.(451-453)Gga>Cga	p.G151R	CACNB4_ENST00000397327.2_Missense_Mutation_p.G138R|CACNB4_ENST00000539935.1_Missense_Mutation_p.G185R|CACNB4_ENST00000427385.1_Missense_Mutation_p.G167R|CACNB4_ENST00000201943.5_Missense_Mutation_p.G185R|CACNB4_ENST00000534999.1_Missense_Mutation_p.G151R			O00305	CACB4_HUMAN	calcium channel, voltage-dependent, beta 4 subunit	185	SH3.				axon guidance|membrane depolarization|synaptic transmission	cytosol|internal side of plasma membrane|plasma membrane|synapse|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11				BRCA - Breast invasive adenocarcinoma(221;0.156)	Verapamil(DB00661)	ACCATTTCTCCAAGACTTGAA	0.358000													13	102					0	0	1	0	0
ITPR1	3708	broad.mit.edu	37	3	4856165	4856165	+	Silent	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:4856165G>T	ENST00000354582.6	+	57	7925	c.7575G>T	c.(7573-7575)ctG>ctT	p.L2525L	ITPR1_ENST00000463980.1_3'UTR|ITPR1_ENST00000423119.2_Silent_p.L2492L|ITPR1_ENST00000544951.1_Silent_p.L503L|ITPR1_ENST00000456211.2_Silent_p.L2477L|ITPR1_ENST00000302640.8_Silent_p.L2525L|AC018816.3_ENST00000441894.1_Intron|AC018816.3_ENST00000489771.1_Intron|ITPR1_ENST00000443694.2_Silent_p.L2525L|AC018816.3_ENST00000449914.1_Intron|ITPR1_ENST00000357086.4_Silent_p.L2492L			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	2540	Interaction with ERP44 (By similarity).				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		AGACGCTGCTGATGTGCATTG	0.537000													31	71					1.30897e-18	1.46033e-18	1	1	0
PTCHD4	442213	broad.mit.edu	37	6	47847059	47847059	+	Silent	SNP	A	A	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr6:47847059A>C	ENST00000339488.4	-	3	1554	c.1521T>G	c.(1519-1521)gtT>gtG	p.V507V		NM_001013732.3	NP_001013754.3	Q6ZW05	CF138_HUMAN	patched domain containing 4	507						integral to membrane	hedgehog receptor activity										ATTTCTGCTGAACCATGGCAT	0.478000													9	3					0	0	1	0	0
SRRM4	84530	broad.mit.edu	37	12	119559877	119559877	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:119559877C>A	ENST00000267260.4	+	6	855	c.467C>A	c.(466-468)tCc>tAc	p.S156Y		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	156	Lys-rich.|Ser-rich.				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						TTGTTTAGCTCCTCTAGCCCA	0.378000													12	28					0.000151284	0.000155615	1	1	0
PDIA4	9601	broad.mit.edu	37	7	148702271	148702271	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr7:148702271G>C	ENST00000286091.4	-	9	1716	c.1484C>G	c.(1483-1485)tCt>tGt	p.S495C		NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	protein disulfide isomerase family A, member 4	495					cell redox homeostasis|glycerol ether metabolic process|protein secretion	endoplasmic reticulum lumen|melanosome	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			GAGGGTGTCAGAGTCAAACTC	0.597000													8	155					0	0	1	0	0
POP1	10940	broad.mit.edu	37	8	99142401	99142401	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr8:99142401G>C	ENST00000401707.2	+	5	763	c.682G>C	c.(682-684)Gtc>Ctc	p.V228L	POP1_ENST00000349693.3_Missense_Mutation_p.V228L	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)	228					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			GAGGCCAACAGTCAAGAGCCA	0.483000													31	95					0	0	1	0	0
OR10J1	26476	broad.mit.edu	37	1	159409997	159409997	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:159409997G>C	ENST00000423932.3	+	1	486	c.449G>C	c.(448-450)aGg>aCg	p.R150T	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	150					sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					ATGAACAAGAGGCTGCGTATC	0.488000													11	155					0	0	1	0	0
PMEL	6490	broad.mit.edu	37	12	56351767	56351767	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:56351767G>A	ENST00000548747.1	-	5	1233	c.571C>T	c.(571-573)Cgc>Tgc	p.R191C	PMEL_ENST00000552882.1_Missense_Mutation_p.R191C|PMEL_ENST00000550447.1_Intron|PMEL_ENST00000449260.2_Missense_Mutation_p.R191C|PMEL_ENST00000548689.1_5'UTR|PMEL_ENST00000360714.4_Missense_Mutation_p.R191C|PMEL_ENST00000550464.1_Missense_Mutation_p.R105C|PMEL_ENST00000539511.1_Missense_Mutation_p.R105C|PMEL_ENST00000536427.1_Missense_Mutation_p.R191C|PMEL_ENST00000548493.1_Missense_Mutation_p.R191C			P40967	PMEL_HUMAN	premelanosome protein	191					melanin biosynthetic process|melanosome organization	endoplasmic reticulum membrane|extracellular region|Golgi apparatus|integral to membrane|melanosome|multivesicular body membrane|plasma membrane	protein binding			NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GATCCCCGGCGATGGTAGACA	0.572000													27	48					0	0	1	0	0
C19orf40	91442	broad.mit.edu	37	19	33467501	33467501	+	Silent	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:33467501G>C	ENST00000588258.1	+	5	671	c.561G>C	c.(559-561)ctG>ctC	p.L187L	C19orf40_ENST00000590179.1_Silent_p.L92L|C19orf40_ENST00000590281.1_Silent_p.L187L|C19orf40_ENST00000589646.1_Silent_p.L92L	NM_152266.3	NP_689479.1	Q9BTP7	FAP24_HUMAN	chromosome 19 open reading frame 40	187	RuvA domain 2-like.				DNA repair	Fanconi anaemia nuclear complex	chromatin binding|DNA binding|protein binding			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7	Esophageal squamous(110;0.137)					TCCAGCAACTGAGTAATGCTT	0.557000								Direct reversal of damage			OREG0025408	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	30	132					0	0	1	0	0
ITPR3	3710	broad.mit.edu	37	6	33657075	33657075	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr6:33657075C>T	ENST00000374316.5	+	51	7815	c.6755C>T	c.(6754-6756)gCg>gTg	p.A2252V	ITPR3_ENST00000605930.1_Missense_Mutation_p.A2252V			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	2252					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						TTCTCCATCGCGGCCCTGTTC	0.627000													5	89					0	0	1	0	0
KPNA1	3836	broad.mit.edu	37	3	122160940	122160940	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:122160940G>C	ENST00000344337.6	-	10	1117	c.941C>G	c.(940-942)tCt>tGt	p.S314C	KPNA1_ENST00000466923.1_5'UTR|RP11-299J3.8_ENST00000609469.1_RNA	NM_002264.3	NP_002255.3	P52294	IMA1_HUMAN	karyopherin alpha 1 (importin alpha 5)	314	Binding to RAG1.				DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|regulation of DNA recombination|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein binding|protein transporter activity			NS(1)|breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	21				GBM - Glioblastoma multiforme(114;0.0898)		CAAAGCAGGAGAAACCACTTT	0.338000													25	150					0	0	1	0	0
PRDM5	11107	broad.mit.edu	37	4	121828712	121828712	+	Splice_Site	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr4:121828712C>A	ENST00000264808.3	-	2	334	c.94G>T	c.(94-96)Ggt>Tgt	p.G32C	PRDM5_ENST00000515109.1_Splice_Site_p.G32C|PRDM5_ENST00000428209.2_Splice_Site_p.G32C|PRDM5_ENST00000394435.2_Splice_Site_p.G32C	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	32	SET.				histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						AACTTTTCACCCTGAGTAGCA	0.358000													20	26					5.35267e-07	5.63951e-07	1	1	0
CALU	813	broad.mit.edu	37	7	128407602	128407602	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr7:128407602G>A	ENST00000542996.2	+	7	1703	c.760G>A	c.(760-762)Gat>Aat	p.D254N	CALU_ENST00000538546.1_Missense_Mutation_p.D95N|CALU_ENST00000479257.1_Missense_Mutation_p.D254N|CALU_ENST00000535623.1_3'UTR|CALU_ENST00000449187.2_Missense_Mutation_p.D246N|CALU_ENST00000249364.4_Missense_Mutation_p.D246N|CALU_ENST00000535011.2_Intron	NM_001199672.1	NP_001186601.1	O43852	CALU_HUMAN	calumenin	246	EF-hand 5.				platelet activation|platelet degranulation	extracellular region|Golgi apparatus|melanosome|sarcoplasmic reticulum lumen	calcium ion binding|protein binding			kidney(2)|large_intestine(3)|lung(5)	10						TAAGAACCGTGATGGGAAGAT	0.493000													18	88					0	0	1	0	0
SEC24B	10427	broad.mit.edu	37	4	110384480	110384480	+	Nonsense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr4:110384480C>G	ENST00000265175.5	+	2	612	c.557C>G	c.(556-558)tCa>tGa	p.S186*	SEC24B_ENST00000504968.2_Nonsense_Mutation_p.S217*|SEC24B_ENST00000399100.2_Nonsense_Mutation_p.S186*	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	186					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		TATGCTATGTCAACTGTTTCT	0.453000													44	144					0	0	1	0	0
LOXL3	84695	broad.mit.edu	37	2	74761668	74761668	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:74761668C>G	ENST00000264094.3	-	10	1884	c.1813G>C	c.(1813-1815)Gag>Cag	p.E605Q	LOXL3_ENST00000409549.1_Missense_Mutation_p.E549Q|LOXL3_ENST00000393937.2_Missense_Mutation_p.E460Q|LOXL3_ENST00000409986.1_Missense_Mutation_p.E460Q|LOXL3_ENST00000409249.1_Intron	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN	lysyl oxidase-like 3	605	Lysyl-oxidase like.					extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity			endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						CCATGGCACTCGTGCCACACC	0.607000													18	13					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	8969428	8969428	+	Splice_Site	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:8969428C>G	ENST00000397910.4	-	79	43120		c.e79-1		MUC16_ENST00000380951.5_Splice_Site	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated						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						GACTCCATTTCTAGAATTAAA	0.403000													24	16					0	0	1	0	0
CC2D1A	54862	broad.mit.edu	37	19	14040949	14040949	+	Silent	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:14040949G>C	ENST00000318003.7	+	27	3010	c.2769G>C	c.(2767-2769)ctG>ctC	p.L923L	CC2D1A_ENST00000589606.1_Silent_p.L922L	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	923					positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			CCCGGCGCCTGGGCAACGATG	0.692000													10	46					0	0	1	0	0
MYOC	4653	broad.mit.edu	37	1	171621212	171621212	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:171621212C>T	ENST00000037502.6	-	1	611	c.540G>A	c.(538-540)ctG>ctA	p.L180L		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response						anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					GGCCCCTTCTCAGCCTTGCTA	0.562000													82	275					0	0	1	0	0
DPY19L2	283417	broad.mit.edu	37	12	64061860	64061860	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:64061860G>C	ENST00000324472.4	-	1	497	c.314C>G	c.(313-315)tCc>tGc	p.S105C	RP11-415I12.3_ENST00000509615.2_RNA	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	105					multicellular organismal development|spermatid development	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		GGTTCTGCTGGAGAACCGCCG	0.592000													45	51					0	0	1	0	0
RNF31	55072	broad.mit.edu	37	14	24617001	24617001	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr14:24617001G>A	ENST00000324103.6	+	1	414	c.94G>A	c.(94-96)Gag>Aag	p.E32K	RNF31_ENST00000559275.1_Intron|RNF31_ENST00000557878.1_Intron	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31	32	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			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)		GTTTTCCCTGGAGCAGCTCCG	0.701000													2	0					0	0	1	0	0
EPAS1	2034	broad.mit.edu	37	2	46583940	46583940	+	Silent	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:46583940C>G	ENST00000263734.3	+	4	957	c.447C>G	c.(445-447)ctC>ctG	p.L149L		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	149	PAS 1.				angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			ACCTGAGTCTCAAAAATGGTA	0.473000													27	46					0	0	1	0	0
CNDP1	84735	broad.mit.edu	37	18	72226648	72226648	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr18:72226648G>T	ENST00000582365.1	+	2	181	c.115G>T	c.(115-117)Gcg>Tcg	p.A39S	CNDP1_ENST00000585136.1_3'UTR|CNDP1_ENST00000358821.3_Missense_Mutation_p.A82S			Q96KN2	CNDP1_HUMAN	carnosine dipeptidase 1 (metallopeptidase M20 family)	82					proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		GGCCGTGGCTGCGGACACGCT	0.622000													5	51					0.000602214	0.000614601	1	1	0
SLC9C2	284525	broad.mit.edu	37	1	173523900	173523900	+	Nonsense_Mutation	SNP	G	G	C	rs138213092		TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:173523900G>C	ENST00000367714.3	-	11	1691	c.1269C>G	c.(1267-1269)taC>taG	p.Y423*	SLC9C2_ENST00000536496.1_Nonsense_Mutation_p.Y321*|SLC9C2_ENST00000466087.1_Intron	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member C2 (putative)	423					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										GAGTCATCACGTATGAATTTA	0.328000													27	135					0	0	1	0	0
FAM13A	10144	broad.mit.edu	37	4	89912254	89912254	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr4:89912254C>G	ENST00000264344.5	-	4	682	c.475G>C	c.(475-477)Gag>Cag	p.E159Q	FAM13A_ENST00000509094.1_Missense_Mutation_p.E159Q|FAM13A_ENST00000515600.1_Missense_Mutation_p.E159Q|FAM13A_ENST00000511976.1_Intron|FAM13A_ENST00000502459.1_5'UTR	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	159	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						TCTGGCAGCTCTTTTATTAAG	0.383000													6	20					0	0	1	0	0
NOTCH1	4851	broad.mit.edu	37	9	139405623	139405623	+	Silent	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr9:139405623G>C	ENST00000277541.6	-	16	2643	c.2568C>G	c.(2566-2568)gtC>gtG	p.V856V		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	856	EGF-like 22.				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CCGTGGGGCAGACACAGGAGA	0.677000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			17	69					0	0	1	0	0
ABCB8	11194	broad.mit.edu	37	7	150737621	150737621	+	Nonstop_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr7:150737621G>C	ENST00000356058.4	+	13	1457	c.1403G>C	c.(1402-1404)tGa>tCa	p.*468S	ABCB8_ENST00000542328.1_Missense_Mutation_p.E342Q|ABCB8_ENST00000297504.6_Missense_Mutation_p.E447Q|ABCB8_ENST00000498578.1_Missense_Mutation_p.E430Q|ABCB8_ENST00000358849.4_Missense_Mutation_p.E430Q			Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 8	0						ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCGGGTCTTTGAGTACATGGC	0.622000													33	46					0	0	1	0	0
CLTC	1213	broad.mit.edu	37	17	57743482	57743482	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:57743482G>A	ENST00000269122.3	+	11	1937	c.1663G>A	c.(1663-1665)Gaa>Aaa	p.E555K	CLTC_ENST00000579456.1_Intron|CLTC_ENST00000393043.1_Missense_Mutation_p.E555K	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	555	Distal segment.|Heavy chain arm.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TGTCTTTATGGAATACAATCT	0.333000			T	"""ALK, TFE3"""	"""ALCL, renal """								9	26					0	0	1	0	0
KLK5	25818	broad.mit.edu	37	19	51452167	51452167	+	Silent	SNP	A	A	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:51452167A>G	ENST00000336334.3	-	4	892	c.540T>C	c.(538-540)tcT>tcC	p.S180S	KLK5_ENST00000391809.2_Silent_p.S180S|KLK5_ENST00000593428.1_Silent_p.S180S	NM_012427.4	NP_036559	Q9Y337	KLK5_HUMAN	kallikrein-related peptidase 5	180	Peptidase S1.				epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		TTGTCCCAGCAGAGGGACAAT	0.532000													32	67					0	0	1	0	0
TTF2	8458	broad.mit.edu	37	1	117617798	117617798	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:117617798G>C	ENST00000369466.4	+	5	636	c.592G>C	c.(592-594)Gag>Cag	p.E198Q		NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II						mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		GAAGCAAGAAGAGGGAGCAGA	0.418000													18	54					0	0	1	0	0
SNORD113-3	767563	broad.mit.edu	37	14	101396266	101396266	+	RNA	SNP	A	A	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr14:101396266A>G	ENST00000364830.2	+	0	11					NR_003231.1																						tagaccaatgatgagtattct	0.338000													66	39					0	0	1	0	0
PPP4C	5531	broad.mit.edu	37	16	30096314	30096314	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr16:30096314C>G	ENST00000279387.7	+	9	1023	c.855C>G	c.(853-855)atC>atG	p.I285M	PPP4C_ENST00000561610.1_Missense_Mutation_p.I285M	NM_002720.1	NP_002711.1	P60510	PP4C_HUMAN	protein phosphatase 4, catalytic subunit	285					microtubule cytoskeleton organization|regulation of double-strand break repair via homologous recombination	centrosome|nucleus	metal ion binding|NF-kappaB-inducing kinase activity|protein binding|protein serine/threonine phosphatase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(2)|pancreas(1)|skin(1)|urinary_tract(1)	9						ATTTCATCATCTTTGAGGCTG	0.627000													33	59					0	0	1	0	0
ARAP1	116985	broad.mit.edu	37	11	72412771	72412771	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr11:72412771G>A	ENST00000359373.5	-	16	3076	c.2225C>T	c.(2224-2226)cCg>cTg	p.P742L	ARAP1_ENST00000426523.1_Missense_Mutation_p.P497L|ARAP1_ENST00000334211.8_Missense_Mutation_p.P497L|ARAP1_ENST00000429686.1_Missense_Mutation_p.P436L|ARAP1-AS2_ENST00000500163.2_RNA|ARAP1_ENST00000393605.3_Missense_Mutation_p.P502L|ARAP1_ENST00000393609.3_Missense_Mutation_p.P742L|ARAP1_ENST00000455638.2_Missense_Mutation_p.P742L			Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	742					actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						GCTCACGGTCGGCAGGACAAC	0.632000													68	187					0	0	1	0	0
TULP1	7287	broad.mit.edu	37	6	35478728	35478728	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr6:35478728C>G	ENST00000229771.6	-	5	488	c.409G>C	c.(409-411)Gag>Cag	p.E137Q	TULP1_ENST00000322263.4_Missense_Mutation_p.E84Q	NM_003322.3	NP_003313.3	O00294	TULP1_HUMAN	tubby like protein 1	137					dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						AGGATTTTctctttcttttcc	0.587000													19	31					0	0	1	0	0
PLEKHO2	80301	broad.mit.edu	37	15	65157298	65157298	+	Silent	SNP	G	G	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr15:65157298G>A	ENST00000323544.4	+	6	812	c.684G>A	c.(682-684)gaG>gaA	p.E228E	AC069368.3_ENST00000437723.1_Intron	NM_001195059.1|NM_025201.4	NP_001181988.1|NP_079477.2	Q8TD55	PKHO2_HUMAN	pleckstrin homology domain containing, family O member 2	228	Pro-rich.									NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25						CTGTGGGGGAGAGAGCCCCAA	0.637000													8	83					0	0	1	0	0
NELFB	25920	broad.mit.edu	37	9	140166654	140166654	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr9:140166654C>T	ENST00000343053.4	+	11	1804	c.1467C>T	c.(1465-1467)ttC>ttT	p.F489F		NM_015456.3	NP_056271.2			negative elongation factor complex member B																		TCGATGGCTTCTTCCTCACCG	0.617000													58	26					0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106815184	106815184	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr8:106815184C>G	ENST00000407775.2	+	8	3124	c.2874C>G	c.(2872-2874)aaC>aaG	p.N958K	ZFPM2_ENST00000378472.4_Missense_Mutation_p.N689K|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.N826K|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.N826K|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	958					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			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)			AAGAAGAAAACAGACATTTGT	0.428000													7	30					0	0	1	0	0
GDPGP1	390637	broad.mit.edu	37	15	90784743	90784743	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr15:90784743C>T	ENST00000558017.1	+	4	1023	c.603C>T	c.(601-603)ttC>ttT	p.F201F	GDPGP1_ENST00000329600.6_Silent_p.F201F	NM_001013657.2	NP_001013679.2	Q6ZNW5	VTC2_HUMAN	GDP-D-glucose phosphorylase 1	201					glucose metabolic process	cytoplasm	GDP-D-glucose phosphorylase activity										ACCCGGGCTTCCGTGTCGGCT	0.667000													12	25					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48450206	48450206	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr7:48450206T>C	ENST00000435803.1	+	40	12184	c.12160T>C	c.(12160-12162)Tgc>Cgc	p.C4054R		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4054	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GAGGCTCAGGTGCTGCGGTCC	0.597000													46	83					0	0	1	0	0
VPS51	738	broad.mit.edu	37	11	64876860	64876860	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr11:64876860G>T	ENST00000279281.3	+	6	1644	c.1552G>T	c.(1552-1554)Gcc>Tcc	p.A518S	VPS51_ENST00000527646.1_3'UTR	NM_013265.2	NP_037397.2			vacuolar protein sorting 51 homolog (S. cerevisiae)																		GAAGGGGGGTGCCACACCACC	0.617000													6	36					3.59834e-05	3.71602e-05	1	1	0
PPP1R12A	4659	broad.mit.edu	37	12	80266706	80266706	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:80266706C>G	ENST00000450142.2	-	2	516	c.250G>C	c.(250-252)Gac>Cac	p.D84H	PPP1R12A_ENST00000437004.2_Missense_Mutation_p.D84H|PPP1R12A_ENST00000546369.1_5'UTR|PPP1R12A_ENST00000261207.5_Missense_Mutation_p.D84H|PPP1R12A_ENST00000550107.1_Missense_Mutation_p.D84H	NM_002480.2	NP_002471.1	O14974	MYPT1_HUMAN	protein phosphatase 1, regulatory subunit 12A	84						contractile fiber	protein binding|signal transducer activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|liver(1)|lung(4)|ovary(2)|skin(1)	29						TCAACATTGTCATCAATGCAA	0.343000													4	30					0	0	1	0	0
FOXG1	2290	broad.mit.edu	37	14	29237037	29237037	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr14:29237037C>G	ENST00000382535.3	+	2	921	c.552C>G	c.(550-552)ttC>ttG	p.F184L	FOXG1_ENST00000313071.4_Missense_Mutation_p.F184L			P55316	FOXG1_HUMAN	forkhead box G1	184					axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		AGCCGCCGTTCAGCTACAACG	0.627000													20	1					0	0	1	0	0
GPAA1	8733	broad.mit.edu	37	8	145140621	145140621	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr8:145140621G>T	ENST00000355091.4	+	11	1718	c.1597G>T	c.(1597-1599)Gcg>Tcg	p.A533S	GPAA1_ENST00000361036.6_Missense_Mutation_p.A473S	NM_003801.3	NP_003792.1	O43292	GPAA1_HUMAN	glycosylphosphatidylinositol anchor attachment 1	533					attachment of GPI anchor to protein|C-terminal protein lipidation|protein complex assembly|protein retention in ER lumen	GPI-anchor transamidase complex	tubulin binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(2)	19	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCCCACTGCTGCGCTTGCCAA	0.612000													10	122					2.80697e-09	2.98761e-09	1	1	0
RDH13	112724	broad.mit.edu	37	19	55556446	55556446	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:55556446C>G	ENST00000396247.3	-	8	1251	c.779G>C	c.(778-780)aGa>aCa	p.R260T	RDH13_ENST00000415061.3_Missense_Mutation_p.R331T|CTC-550B14.7_ENST00000593060.1_RNA|CTC-550B14.6_ENST00000585492.1_RNA	NM_138412.3	NP_612421.1	Q8NBN7	RDH13_HUMAN	retinol dehydrogenase 13 (all-trans/9-cis)	331							binding|oxidoreductase activity			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.199)	GBM - Glioblastoma multiforme(193;0.0504)	Vitamin A(DB00162)	CAGAGGTTATCTGGGGAGGGG	0.647000													15	53					0	0	1	0	0
PRKAB2	5565	broad.mit.edu	37	1	146639436	146639436	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr1:146639436G>T	ENST00000254101.3	-	3	371	c.233C>A	c.(232-234)cCc>cAc	p.P78H	PRKAB2_ENST00000425272.2_Intron	NM_005399.3	NP_005390.1	O43741	AAKB2_HUMAN	protein kinase, AMP-activated, beta 2 non-catalytic subunit	78					carnitine shuttle|cell cycle arrest|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm				NS(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11	all_hematologic(923;0.0487)				Adenosine monophosphate(DB00131)	GATAACAGTGGGCCGGGCCTG	0.527000													92	166					2.48941e-46	2.82259e-46	1	1	0
LRMP	4033	broad.mit.edu	37	12	25260856	25260856	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:25260856G>C	ENST00000354454.3	+	21	2191	c.1362G>C	c.(1360-1362)ttG>ttC	p.L454F	LRMP_ENST00000547044.1_Missense_Mutation_p.L454F|LRMP_ENST00000548766.1_Missense_Mutation_p.L454F	NM_006152.3	NP_006143.2	Q12912	LRMP_HUMAN	lymphoid-restricted membrane protein	510					vesicle fusion|vesicle targeting	endoplasmic reticulum membrane|integral to plasma membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)					TTGCAGCTTTGATGAGCTTCC	0.473000													32	104					0	0	1	0	0
UNC5A	90249	broad.mit.edu	37	5	176304229	176304229	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr5:176304229G>T	ENST00000329542.4	+	9	1689	c.1415G>T	c.(1414-1416)cGa>cTa	p.R472L	UNC5A_ENST00000261961.3_Missense_Mutation_p.R432L	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	472	ZU5.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCCATACCCCGAGGGAAGATC	0.637000													29	2					7.26314e-15	8.0002e-15	1	1	0
CCDC33	80125	broad.mit.edu	37	15	74573088	74573088	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr15:74573088G>C	ENST00000321288.5	+	11	1578	c.1578G>C	c.(1576-1578)aaG>aaC	p.K526N	CCDC33_ENST00000398814.3_Missense_Mutation_p.K323N			Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	526							protein binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						TGTACCAGAAGATGCTGACAG	0.622000													17	55					0	0	1	0	0
ZFPM1	161882	broad.mit.edu	37	16	88594556	88594556	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr16:88594556G>C	ENST00000319555.3	+	6	944	c.622G>C	c.(622-624)Gag>Cag	p.E208Q	RP11-21B21.4_ENST00000563243.1_RNA	NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN	zinc finger protein, FOG family member 1	208					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|transcription factor binding|zinc ion binding			central_nervous_system(1)|ovary(2)|urinary_tract(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0478)		GGAGCCAGCAGAGCCCACGTG	0.692000													3	14					0	0	1	0	0
PSMC2	5701	broad.mit.edu	37	7	102996214	102996214	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr7:102996214G>C	ENST00000435765.1	+	5	675	c.264G>C	c.(262-264)caG>caC	p.Q88H	SLC26A5_ENST00000339444.6_Intron|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000393735.2_Intron|PSMC2_ENST00000292644.3_Missense_Mutation_p.Q88H|PSMC2_ENST00000544811.1_Intron	NM_002803.3	NP_002794.1	P35998	PRS7_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 2	88					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	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	21						AGACACTCCAGAGTGAACAGC	0.453000													31	22					0	0	1	0	0
NCKIPSD	51517	broad.mit.edu	37	3	48716150	48716150	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:48716150G>C	ENST00000294129.2	-	12	1931	c.1812C>G	c.(1810-1812)ttC>ttG	p.F604L	NCKIPSD_ENST00000416649.2_Missense_Mutation_p.F597L|NCKIPSD_ENST00000341520.4_Missense_Mutation_p.F604L	NM_016453.2	NP_057537.1	Q9NZQ3	SPN90_HUMAN	NCK interacting protein with SH3 domain	604					cytoskeleton organization|NLS-bearing substrate import into nucleus|signal transduction	intermediate filament|nucleus	cytoskeletal protein binding|SH3 domain binding			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GCTCATGTTTGAAGATGCGCA	0.587000													16	40					0	0	1	0	0
DCLRE1C	64421	broad.mit.edu	37	10	14995952	14995952	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr10:14995952C>G	ENST00000378289.4	-	1	479	c.58G>C	c.(58-60)Gat>Cat	p.D20H	DCLRE1C_ENST00000396817.2_5'UTR|DCLRE1C_ENST00000378255.1_5'UTR|DCLRE1C_ENST00000357717.2_5'UTR|DCLRE1C_ENST00000378278.2_Missense_Mutation_p.D20H|DCLRE1C_ENST00000378249.1_5'UTR|DCLRE1C_ENST00000378258.1_5'UTR|DCLRE1C_ENST00000378254.1_5'UTR|DCLRE1C_ENST00000453695.2_5'UTR|DCLRE1C_ENST00000378246.2_5'UTR			Q96SD1	DCR1C_HUMAN	DNA cross-link repair 1C	20					DNA recombination	nucleus	5'-3' exonuclease activity|single-stranded DNA specific endodeoxyribonuclease activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						TTCTCCCTATCGAAGCGGTCT	0.647000								Non-homologous end-joining					22	95					0	0	1	0	0
PFAS	5198	broad.mit.edu	37	17	8157482	8157482	+	Splice_Site	SNP	A	A	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:8157482A>C	ENST00000314666.6	+	3	275		c.e3-1		PFAS_ENST00000545834.1_Splice_Site	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase						'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GTCTCCCTGCAGCTGAGGCCC	0.582000													20	16					0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104049332	104049332	+	Silent	SNP	C	C	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr12:104049332C>A	ENST00000388887.2	+	15	1911	c.1707C>A	c.(1705-1707)ggC>ggA	p.G569G	RP11-341G23.2_ENST00000551905.1_RNA	NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	569	FAS1 2.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TGAAGGACGGCACTCTCGATT	0.453000													13	40					1.5842e-08	1.67928e-08	1	1	0
DOCK3	1795	broad.mit.edu	37	3	51418783	51418783	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:51418783C>T	ENST00000266037.9	+	53	5909	c.5886C>T	c.(5884-5886)gtC>gtT	p.V1962V		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1962						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CAGGGTGCGTCATCCCTCAGG	0.682000													13	29					0	0	1	0	0
NOMO3	408050	broad.mit.edu	37	16	16349968	16349968	+	Silent	SNP	C	C	T			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr16:16349968C>T	ENST00000399336.4	+	11	1345	c.1173C>T	c.(1171-1173)atC>atT	p.I391I	NOMO3_ENST00000538468.1_Silent_p.I224I|NOMO3_ENST00000263012.6_Silent_p.I391I	NM_001004067.3	NP_001004067.1	P69849	NOMO3_HUMAN	NODAL modulator 3	391						integral to membrane	carbohydrate binding|carboxypeptidase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	8				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		CGGTCACCATCAAAATTGCAC	0.468000													40	119					0	0	1	0	0
POLQ	10721	broad.mit.edu	37	3	121202299	121202299	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:121202299G>C	ENST00000264233.5	-	18	6032	c.5904C>G	c.(5902-5904)atC>atG	p.I1968M		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1968					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TATAGCTCTGGATGAAGTCAT	0.348000								DNA polymerases (catalytic subunits)					4	66					0	0	1	0	0
DICER1	23405	broad.mit.edu	37	14	95570291	95570291	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr14:95570291G>C	ENST00000526495.1	-	23	3733	c.3442C>G	c.(3442-3444)Caa>Gaa	p.Q1148E	DICER1_ENST00000343455.3_Missense_Mutation_p.Q1148E|DICER1_ENST00000527414.1_Missense_Mutation_p.Q1148E|DICER1_ENST00000556045.1_Missense_Mutation_p.Q46E|DICER1_ENST00000541352.1_Missense_Mutation_p.Q1148E|DICER1_ENST00000393063.1_Missense_Mutation_p.Q1148E			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1148					negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		ACAGACATTTGGTCATGATTT	0.418000			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				36	18					0	0	1	0	0
PLEKHA1	59338	broad.mit.edu	37	10	124175485	124175485	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr10:124175485C>G	ENST00000368988.1	+	7	702	c.579C>G	c.(577-579)atC>atG	p.I193M	PLEKHA1_ENST00000368989.2_Missense_Mutation_p.I193M|PLEKHA1_ENST00000433307.1_Missense_Mutation_p.I193M|PLEKHA1_ENST00000494222.1_3'UTR|PLEKHA1_ENST00000368990.3_Missense_Mutation_p.I193M|PLEKHA1_ENST00000538022.1_Missense_Mutation_p.I193M			Q9HB21	PKHA1_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1	193	PH 2.				B cell receptor signaling pathway|cellular response to hydrogen peroxide|establishment of protein localization|negative regulation of protein kinase B signaling cascade|phosphatidylinositol 3-kinase cascade|ruffle organization	cytoplasm|nucleus|ruffle membrane	PDZ domain binding|phosphatidylinositol-3,4-bisphosphate binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GTGCGGTTATCAAAGCTGGAT	0.348000													16	1					0	0	1	0	0
DBF4B	80174	broad.mit.edu	37	17	42828010	42828010	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:42828010G>C	ENST00000315005.3	+	14	1375	c.1237G>C	c.(1237-1239)Gat>Cat	p.D413H	DBF4B_ENST00000393547.2_Missense_Mutation_p.D413H	NM_145663.2	NP_663696.1	Q8NFT6	DBF4B_HUMAN	DBF4 homolog B (S. cerevisiae)	413					cell cycle	nucleus	nucleic acid binding|zinc ion binding			kidney(1)|large_intestine(1)|lung(5)	7		Prostate(33;0.0322)				AGAATCACTAGATGGTGTGAT	0.607000													13	40					0	0	1	0	0
RASGRP3	25780	broad.mit.edu	37	2	33768679	33768679	+	Missense_Mutation	SNP	T	T	A			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:33768679T>A	ENST00000403687.3	+	13	2119	c.1379T>A	c.(1378-1380)gTt>gAt	p.V460D	RASGRP3_ENST00000402538.3_Missense_Mutation_p.V460D|RASGRP3_ENST00000407811.1_Missense_Mutation_p.V459D|RASGRP3_ENST00000482731.1_3'UTR	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	460	EF-hand 2.				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			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					TCCTTCTGTGTTCTGGACAAA	0.338000													5	19					0	0	1	0	0
ANKRD20A8P	729171	broad.mit.edu	37	2	95498040	95498041	+	RNA	INS	-	-	C			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr2:95498040_95498041insC	ENST00000432432.2	-	0	1007					NR_040113.1																						agctggaactacaggtgcgtac	0.480													5	4	---	---	---	---					
SH3BP5	9467	broad.mit.edu	37	3	15373833	15373835	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr3:15373833_15373835delTCC	ENST00000383791.3	-	1	301_303	c.81_83delGGA	c.(79-84)gaggaa>gaa	p.27_28EE>E	SH3BP5_ENST00000426925.1_Intron|SH3BP5_ENST00000253688.5_5'UTR|SH3BP5_ENST00000408919.3_Intron|SH3BP5_ENST00000465894.2_Intron	NM_004844.4	NP_004835.2	O60239	3BP5_HUMAN	SH3-domain binding protein 5 (BTK-associated)	27	Glu-rich.				intracellular signal transduction	mitochondrion	protein kinase inhibitor activity|SH3 domain binding			NS(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	12						catcccctcttcctcctcctcct	0.719													2	4	---	---	---	---					
ADH1C	126	broad.mit.edu	37	4	100268893	100268893	+	RNA	DEL	G	G	-			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr4:100268893delG	ENST00000515683.1	-	0	472				ADH1C_ENST00000510055.1_RNA	NM_000669.3	NP_000660.1	P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	AATGGAAAAAGTATTTCACCT	0.323													8	34	---	---	---	---					
RFPL4B	442247	broad.mit.edu	37	6	112671551	112671561	+	Frame_Shift_Del	DEL	ACTTAGAAGAA	ACTTAGAAGAA	-			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr6:112671551_112671561delACTTAGAAGAA	ENST00000441065.2	+	3	953_963	c.641_651delACTTAGAAGAA	c.(640-651)gacttagaagaafs	p.DLEE214fs		NM_001013734.2	NP_001013756.2	Q6ZWI9	RFPLB_HUMAN	ret finger protein-like 4B	214	B30.2/SPRY.						zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	14		all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209)		all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244)		CTGGATGCTGACTTAGAAGAAATCCAGTTTT	0.455													9	32	---	---	---	---					
CDK5	1020	broad.mit.edu	37	7	150751123	150751134	+	In_Frame_Del	DEL	GGGGTGCTGCAG	GGGGTGCTGCAG	-	rs11541602		TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr7:150751123_150751134delGGGGTGCTGCAG	ENST00000485972.1	-	12	1522_1533	c.841_852delCTGCAGCACCCC	c.(841-852)ctgcagcaccccdel	p.LQHP281del	CDK5_ENST00000297518.4_In_Frame_Del_p.LQHP249del	NM_004935.3	NP_004926.1	Q00535	CDK5_HUMAN	cyclin-dependent kinase 5	281	Protein kinase.				activation of pro-apoptotic gene products|blood coagulation|cell division|cell proliferation|embryo development|negative regulation of transcription, DNA-dependent|positive regulation of neuron apoptosis	axon|cytosol|dendrite|growth cone|lamellipodium|membrane|neuromuscular junction|neuronal cell body	acetylcholine receptor activator activity|ATP binding|cyclin-dependent protein kinase activity|ErbB-2 class receptor binding|ErbB-3 class receptor binding|tau-protein kinase activity			central_nervous_system(1)|endometrium(2)|lung(5)|urinary_tract(1)	9		Breast(660;0.159)|Ovarian(593;0.182)	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.008)|Lung(243;0.00942)|BRCA - Breast invasive adenocarcinoma(188;0.242)		CGGAGAAGTAGGGGTGCTGCAGGGCCTCTTCT	0.623													5	8	---	---	---	---					
C8orf34	116328	broad.mit.edu	37	8	69358655	69358656	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr8:69358655_69358656delTG	ENST00000337103.4	+	2	1826_1827	c.234_235delTG	c.(232-237)gctgtgfs	p.V79fs	C8orf34_ENST00000348340.2_Frame_Shift_Del_p.V104fs|C8orf34_ENST00000539993.1_Frame_Shift_Del_p.V104fs|C8orf34_ENST00000523686.1_Frame_Shift_Del_p.V104fs|C8orf34_ENST00000518698.1_Frame_Shift_Del_p.V190fs|C8orf34_ENST00000349492.3_3'UTR			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	104					signal transduction		cAMP-dependent protein kinase regulator activity			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			GTGACCTTGCTGTGTCTAATAT	0.337													13	59	---	---	---	---					
YWHAZ	7534	broad.mit.edu	37	8	101936227	101936245	+	Frame_Shift_Del	DEL	TGTATGACTCTTCACTTAA	TGTATGACTCTTCACTTAA	-			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr8:101936227_101936245delTGTATGACTCTTCACTTAA	ENST00000395957.2	-	6	957_975	c.616_634delTTAAGTGAAGAGTCATACA	c.(616-636)ttaagtgaagagtcatacaaafs	p.LSEESYK206fs	YWHAZ_ENST00000395951.3_Frame_Shift_Del_p.LSEESYK206fs|YWHAZ_ENST00000395956.3_Frame_Shift_Del_p.LSEESYK206fs|YWHAZ_ENST00000522819.1_Frame_Shift_Del_p.LSEESYK86fs|YWHAZ_ENST00000419477.2_Frame_Shift_Del_p.LSEESYK206fs|YWHAZ_ENST00000395958.2_Frame_Shift_Del_p.LSEESYK206fs|YWHAZ_ENST00000395953.2_Frame_Shift_Del_p.LSEESYK206fs|YWHAZ_ENST00000457309.1_Frame_Shift_Del_p.LSEESYK206fs|YWHAZ_ENST00000395948.2_Frame_Shift_Del_p.LSEESYK129fs|YWHAZ_ENST00000521309.1_Frame_Shift_Del_p.LSEESYK86fs|YWHAZ_ENST00000353245.3_Frame_Shift_Del_p.LSEESYK206fs|YWHAZ_ENST00000522542.1_Frame_Shift_Del_p.LSEESYK131fs			P63104	1433Z_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta polypeptide	206					anti-apoptosis|mRNA metabolic process|platelet activation|signal transduction	cytosol|melanosome	transcription factor binding			large_intestine(1)|lung(2)	3	all_cancers(14;7.43e-06)|all_epithelial(15;2.77e-08)|Lung NSC(17;6.08e-05)|all_lung(17;0.000197)		Epithelial(11;2.79e-11)|all cancers(13;5.45e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.75e-05)		Ginkgo biloba(DB01381)	GTGCTGTCTTTGTATGACTCTTCACTTAATGTATCAAGT	0.333													16	155	---	---	---	---					
MTBP	27085	broad.mit.edu	37	8	121483136	121483144	+	In_Frame_Del	DEL	AATGGAAGG	AATGGAAGG	-			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr8:121483136_121483144delAATGGAAGG	ENST00000305949.1	+	11	1169_1177	c.1124_1132delAATGGAAGG	c.(1123-1134)aaatggaaggaa>aaa	p.WKE376del		NM_022045.4	NP_071328.2	Q96DY7	MTBP_HUMAN	Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa	376					cell cycle arrest					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			AGTTCAAGAAAATGGAAGGAATATATAGC	0.330													9	125	---	---	---	---					
FAM21EP	100421577	broad.mit.edu	37	10	51785908	51785928	+	RNA	DEL	CCTGGTGCTCACTCCTCTTCA	CCTGGTGCTCACTCCTCTTCA	-			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr10:51785908_51785928delCCTGGTGCTCACTCCTCTTCA	ENST00000456967.1	-	0	1891					NR_038275.1																						AGCTTGGGCTCCTGGTGCTCACTCCTCTTCACCTTCAGCCA	0.520													4	9	---	---	---	---					
MUC5B	727897	broad.mit.edu	37	11	1278842	1278866	+	Frame_Shift_Del	DEL	GTGACGCCCAGGGTCAGCCCCCGCC	GTGACGCCCAGGGTCAGCCCCCGCC	-			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr11:1278842_1278866delGTGACGCCCAGGGTCAGCCCCCGCC	ENST00000447027.1	+	41	16419_16443	c.16361_16385delGTGACGCCCAGGGTCAGCCCCCGCC	c.(16360-16386)tgtgacgcccagggtcagcccccgccgfs	p.CDAQGQPPP5454fs	MUC5B_ENST00000529681.1_Frame_Shift_Del_p.CDAQGQPPP5451fs			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	5451	VWFC 2.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			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)		CCCCTGCCCTGTGACGCCCAGGGTCAGCCCCCGCCGTGCAACCGT	0.684													7	9	---	---	---	---					
AKAP6	9472	broad.mit.edu	37	14	33004894	33004908	+	In_Frame_Del	DEL	GCTTCGAGTCTCAGT	GCTTCGAGTCTCAGT	-			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr14:33004894_33004908delGCTTCGAGTCTCAGT	ENST00000280979.4	+	3	629_643	c.459_473delGCTTCGAGTCTCAGT	c.(457-474)cagcttcgagtctcagtg>cag	p.LRVSV154del	AKAP6_ENST00000557272.1_In_Frame_Del_p.LRVSV154del|AKAP6_ENST00000557354.1_In_Frame_Del_p.LRVSV154del	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	154					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		TCTGGCACCAGCTTCGAGTCTCAGTGCTGGTTCTG	0.521													18	40	---	---	---	---					
DMXL2	23312	broad.mit.edu	37	15	51778370	51778370	+	Frame_Shift_Del	DEL	A	A	-			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr15:51778370delA	ENST00000251076.5	-	23	5669	c.5382delT	c.(5380-5382)gatfs	p.D1794fs	DMXL2_ENST00000449909.3_Frame_Shift_Del_p.D1158fs|DMXL2_ENST00000543779.2_Frame_Shift_Del_p.D1794fs|RP11-707P17.1_ENST00000561007.1_RNA	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1794						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		GCAGGAAAGGATCAGGATGTA	0.408													25	38	---	---	---	---					
CDRT1	374286	broad.mit.edu	37	17	15501958	15501975	+	Splice_Site	DEL	ATCCCAGTATCTGCAGGA	ATCCCAGTATCTGCAGGA	-			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:15501958_15501975delATCCCAGTATCTGCAGGA	ENST00000455584.2	-	14	2407_2416	c.2364_2373delTCCTGCAGATACTGGGAT	c.(2362-2373)agtcctgcagat>ag	p.SPAD788del	CDRT1_ENST00000354433.3_5'UTR|CDRT1_ENST00000395906.3_Splice_Site_p.SPAD478del																							CACTTTTCAGATCCCAGTATCTGCAGGAATCAGGCCAA	0.472													7	13	---	---	---	---					
NF1	4763	broad.mit.edu	37	17	29592283	29592283	+	Frame_Shift_Del	DEL	G	G	-			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:29592283delG	ENST00000358273.4	+	36	5144	c.4761delG	c.(4759-4761)ttgfs	p.L1587fs	NF1_ENST00000356175.3_Frame_Shift_Del_p.L1566fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1587	CRAL-TRIO.				actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TCAAGGCTTTGAAAACGTTAA	0.343			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			19	105	---	---	---	---					
CDK12	51755	broad.mit.edu	37	17	37618605	37618605	+	Frame_Shift_Del	DEL	G	G	-			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:37618605delG	ENST00000447079.4	+	1	314	c.281delG	c.(280-282)aggfs	p.R94fs	CDK12_ENST00000430627.2_Frame_Shift_Del_p.R94fs	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	94					mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						CTAGACCGAAGGGAGAACGAC	0.522			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)			10	53	---	---	---	---					
CNP	1267	broad.mit.edu	37	17	40123969	40123969	+	Frame_Shift_Del	DEL	C	C	-			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr17:40123969delC	ENST00000393892.3	+	3	880	c.736delC	c.(736-738)cccfs	p.P247fs	CNP_ENST00000393888.1_Frame_Shift_Del_p.P227fs|CNP_ENST00000591072.1_Frame_Shift_Del_p.P12fs|CNP_ENST00000472031.1_Frame_Shift_Del_p.D21fs	NM_033133.4	NP_149124.3	P09543	CN37_HUMAN	2',3'-cyclic nucleotide 3' phosphodiesterase						cell killing|cyclic nucleotide catabolic process|RNA metabolic process|synaptic transmission	extracellular space|melanosome	2',3'-cyclic-nucleotide 3'-phosphodiesterase activity|ATP binding|protein binding			breast(1)|kidney(2)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	9		all_cancers(22;2.38e-06)|all_epithelial(22;6.79e-05)|Breast(137;0.000143)		UCEC - Uterine corpus endometrioid carcinoma (308;0.171)		TGGAAAGAGACCCCCAGGCGT	0.592													16	36	---	---	---	---					
MVB12A	93343	broad.mit.edu	37	19	17516586	17516587	+	RNA	INS	-	-	T	rs150642563	by1000genomes	TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr19:17516586_17516587insT	ENST00000500836.2	+	0	29																											AGGAGGTGGGCTTTTTTTTCAC	0.525													3	3	---	---	---	---					
CDH4	1002	broad.mit.edu	37	20	60485588	60485606	+	Frame_Shift_Del	DEL	CAGTGGGGATCCATCCGGG	CAGTGGGGATCCATCCGGG	-	rs35293044		TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr20:60485588_60485606delCAGTGGGGATCCATCCGGG	ENST00000360469.5	+	9	1387_1405	c.1299_1317delCAGTGGGGATCCATCCGGG	c.(1297-1317)atcagtggggatccatccgggfs	p.ISGDPSG433fs	CDH4_ENST00000543233.1_Frame_Shift_Del_p.ISGDPSG359fs	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	433	Cadherin 3.				adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			ACCGCATCATCAGTGGGGATCCATCCGGGCACTTCAGCG	0.603													7	73	---	---	---	---					
RFPL2	10739	broad.mit.edu	37	22	32590428	32590434	+	Frame_Shift_Del	DEL	TCCCACC	TCCCACC	-			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chr22:32590428_32590434delTCCCACC	ENST00000400237.1	-	3	1098_1104	c.163_169delGGTGGGA	c.(163-171)ggtgggaatfs	p.GGN55fs	RFPL2_ENST00000400236.3_5'UTR|RFPL2_ENST00000248983.4_Intron			O75678	RFPL2_HUMAN	ret finger protein-like 2	55							zinc ion binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	21						TTGGTGAGATTCCCACCTCCCACTGGG	0.507													2	4	---	---	---	---					
KLHL34	257240	broad.mit.edu	37	X	21674920	21674922	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-G2-A3VY-01A-11D-A22Z-08	TCGA-G2-A3VY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03337bf0-498e-440a-8159-42a376fa73aa	9ac3221e-f850-465c-953b-2f735aa8d368	g.chrX:21674920_21674922delCTC	ENST00000379499.2	-	1	1526_1528	c.985_987delGAG	c.(985-987)gagdel	p.E329del		NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN	kelch-like family member 34	329	Glu-rich.									cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						TGAGCTCCCActcctcctcctcc	0.650													2	4	---	---	---	---