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
EDEM3	80267	broad.mit.edu	37	1	184692952	184692952	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr1:184692952T>G	ENST00000318130.8	-	8	1052	c.786A>C	c.(784-786)aaA>aaC	p.K262N	EDEM3_ENST00000367512.3_Missense_Mutation_p.K219N	NM_025191.3	NP_079467.3	Q9BZQ6	EDEM3_HUMAN	ER degradation enhancer, mannosidase alpha-like 3	262					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						TTCGCTGTCTTTTTTCCCAGA	0.318000													37	127					0	0	0.00148497	0	0
TMPRSS4	56649	broad.mit.edu	37	11	117988150	117988150	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr11:117988150G>A	ENST00000534111.1	+	12	1542	c.1277G>A	c.(1276-1278)tGg>tAg	p.W426*	TMPRSS4_ENST00000522824.1_Nonsense_Mutation_p.W423*|TMPRSS4_ENST00000437212.3_Nonsense_Mutation_p.W428*|TMPRSS4_ENST00000518413.2_3'UTR|TMPRSS4_ENST00000522307.1_Nonsense_Mutation_p.W281*|TMPRSS4_ENST00000523251.1_Nonsense_Mutation_p.W388*	NM_001083947.1|NM_001173551.1|NM_019894.3	NP_001077416.1|NP_001167022.1|NP_063947.1	Q9NRS4	TMPS4_HUMAN	transmembrane protease, serine 4	428	Peptidase S1.				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238)		BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204)		TATCTCAACTGGATCTACAAT	0.562000													26	32					0	0	0.00127121	0	0
CD1A	909	broad.mit.edu	37	1	158226856	158226856	+	Splice_Site	SNP	T	T	C			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr1:158226856T>C	ENST00000289429.5	+	4	1416		c.e4+2			NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule						antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	TCTACTGGGGTGAGAAAAAGC	0.567000													6	14					0	0	0.000157383	0	0
GPR139	124274	broad.mit.edu	37	16	20043535	20043535	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr16:20043535G>A	ENST00000570682.1	-	2	884	c.584C>T	c.(583-585)cCc>cTc	p.P195L		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	195						integral to membrane|plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						GATGGAGCAGGGCACCAGGTA	0.527000													12	26					0	0	0.000978159	0	0
BIRC7	79444	broad.mit.edu	37	20	61870928	61870928	+	Missense_Mutation	SNP	C	C	T	rs148392338		TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr20:61870928C>T	ENST00000217169.3	+	6	1082	c.868C>T	c.(868-870)Cgc>Tgc	p.R290C	BIRC7_ENST00000395306.1_Missense_Mutation_p.R185C|BIRC7_ENST00000342412.6_Missense_Mutation_p.R272C	NM_139317.1	NP_647478.1	Q96CA5	BIRC7_HUMAN	baculoviral IAP repeat containing 7	290					activation of JUN kinase activity|anti-apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytoplasm|nucleus	enzyme binding|zinc ion binding			endometrium(1)|kidney(1)|lung(9)|ovary(1)	12	all_cancers(38;2.72e-09)					AGCCCCCGTCCGCAGCCGCGT	0.731000													5	13					0	0	0.000602214	0	0
RIPPLY3	53820	broad.mit.edu	37	21	38380459	38380459	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr21:38380459C>T	ENST00000329553.2	+	2	317	c.107C>T	c.(106-108)cCc>cTc	p.P36L	RIPPLY3_ENST00000485272.1_3'UTR	NM_018962.2	NP_061835.1			ripply transcriptional repressor 3																		CGTTCCAGCCCCGCGCCGTGG	0.577000													12	25					0	0	0.000219431	0	0
USP31	57478	broad.mit.edu	37	16	23079890	23079890	+	Missense_Mutation	SNP	G	G	A	rs143300021		TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr16:23079890G>A	ENST00000219689.7	-	16	3535	c.3536C>T	c.(3535-3537)cCt>cTt	p.P1179L	USP31_ENST00000567975.1_Missense_Mutation_p.P472L	NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	1179	Ser-rich.				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	p.P1179L(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		GCTCACCCGAGGGGAATTGGG	0.642000													13	15					0	0	0.00185496	0	0
TMEM184B	25829	broad.mit.edu	37	22	38617542	38617542	+	Silent	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr22:38617542G>A	ENST00000361906.3	-	9	1366	c.1158C>T	c.(1156-1158)tcC>tcT	p.S386S	TMEM184B_ENST00000361684.4_Silent_p.S386S|RP1-5O6.6_ENST00000504337.1_RNA	NM_001195072.1|NM_012264.4	NP_001182001.1|NP_036396.2	Q9Y519	T184B_HUMAN	transmembrane protein 184B	386						integral to membrane				endometrium(1)|large_intestine(2)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	8	Melanoma(58;0.045)					TGAGGCTGTGGGAGCGGGAGA	0.647000													11	21					0	0	0.00185496	0	0
HGD	3081	broad.mit.edu	37	3	120347263	120347263	+	Silent	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr3:120347263G>A	ENST00000283871.5	-	14	1761	c.1302C>T	c.(1300-1302)ttC>ttT	p.F434F		NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase	434					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		AGTTGGGAGTGAAGTGGCTCT	0.458000													46	143					0	0	0.000781405	0	0
OR8K3	219473	broad.mit.edu	37	11	56086283	56086283	+	Silent	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr11:56086283C>T	ENST00000312711.1	+	1	501	c.501C>T	c.(499-501)tcC>tcT	p.S167S		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					TTACTTTATCCTTCTGTGGCT	0.368000													35	81					0	0	0.00148497	0	0
RNF212	285498	broad.mit.edu	37	4	1084575	1084575	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr4:1084575C>T	ENST00000382968.5	-	4	395	c.298G>A	c.(298-300)Gaa>Aaa	p.E100K	RNF212_ENST00000433731.2_Missense_Mutation_p.E100K	NM_001131034.3|NM_194439.4	NP_001124506.1|NP_919420.1	Q495C1	RN212_HUMAN	ring finger protein 212	100							zinc ion binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	10			OV - Ovarian serous cystadenocarcinoma(23;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (64;0.151)		CTTACCTTTTCTCTATAGAAG	0.363000													12	55					0	0	0.000308642	0	0
TTLL8	164714	broad.mit.edu	37	22	50487714	50487714	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr22:50487714C>T	ENST00000266182.6	-	3	227	c.228G>A	c.(226-228)atG>atA	p.M76I	TTLL8_ENST00000477219.1_5'UTR|TTLL8_ENST00000440475.1_Missense_Mutation_p.M76I					tubulin tyrosine ligase-like family, member 8											NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)		TCTCCAAAGCCATTTCTTGAT	0.532000													25	59					0	0	0.00127121	0	0
ZNF831	128611	broad.mit.edu	37	20	57769021	57769021	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr20:57769021G>A	ENST00000371030.2	+	1	2947	c.2947G>A	c.(2947-2949)Gga>Aga	p.G983R		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	983						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TGTTGGGTCAGGACTGGGGAC	0.642000													15	17					0	0	0.000219431	0	0
PREX2	80243	broad.mit.edu	37	8	68956771	68956771	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr8:68956771C>T	ENST00000288368.4	+	8	1166	c.889C>T	c.(889-891)Cgt>Tgt	p.R297C	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	297	PH.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						GTACCTTTTTCGTGGCCGGAT	0.398000													39	78					0	0	0.000781405	0	0
KLHL38	340359	broad.mit.edu	37	8	124659189	124659189	+	Silent	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr8:124659189G>A	ENST00000325995.7	-	2	1439	c.1416C>T	c.(1414-1416)gcC>gcT	p.A472A	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	472										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						CCACTGCAGGGGCACACACGT	0.473000													53	65					0	0	0.000781405	0	0
GRIA4	2893	broad.mit.edu	37	11	105789553	105789553	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr11:105789553A>G	ENST00000393127.2	+	11	1831	c.1385A>G	c.(1384-1386)tAt>tGt	p.Y462C	GRIA4_ENST00000525187.1_Missense_Mutation_p.Y462C|GRIA4_ENST00000530497.1_Missense_Mutation_p.Y462C|GRIA4_ENST00000282499.5_Missense_Mutation_p.Y462C	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	462					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)	GGTATCAAGTATAAAATTGCC	0.358000													11	26					0	0	0.000673444	0	0
ILDR2	387597	broad.mit.edu	37	1	166891852	166891852	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr1:166891852C>T	ENST00000271417.3	-	8	1244	c.1189G>A	c.(1189-1191)Gat>Aat	p.D397N	ILDR2_ENST00000525740.1_Missense_Mutation_p.D270N|ILDR2_ENST00000526687.1_Missense_Mutation_p.D289N|ILDR2_ENST00000528703.1_Missense_Mutation_p.D338N|ILDR2_ENST00000529387.1_Intron|ILDR2_ENST00000469934.2_Missense_Mutation_p.D397N|ILDR2_ENST00000529071.1_Missense_Mutation_p.D378N	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	397						integral to membrane				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						CTCTCTCGATCCTCTTTGTTA	0.602000													54	98					0	0	0.000781405	0	0
MYO16	23026	broad.mit.edu	37	13	109379923	109379923	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr13:109379923C>T	ENST00000356711.2	+	4	559	c.433C>T	c.(433-435)Ctt>Ttt	p.L145F	MYO16_ENST00000357550.2_Missense_Mutation_p.L145F|MYO16_ENST00000251041.5_Missense_Mutation_p.L145F	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	145					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TGTCCTGCTTCTTGTATTAGT	0.378000													28	38					0	0	0.000491102	0	0
SAMD9	54809	broad.mit.edu	37	7	92731611	92731611	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr7:92731611G>A	ENST00000379958.2	-	3	4069	c.3800C>T	c.(3799-3801)tCc>tTc	p.S1267F		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1267						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			AAAATCAAAGGACTTTTTCAA	0.323000													45	77					0	0	0.000437636	0	0
OSMR	9180	broad.mit.edu	37	5	38933078	38933078	+	Silent	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr5:38933078G>A	ENST00000274276.3	+	18	2874	c.2472G>A	c.(2470-2472)agG>agA	p.R824R		NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	824					cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					TAGGCACTAGGAAGTCACTCA	0.443000													28	44					0	0	0.00127121	0	0
TMEM128	85013	broad.mit.edu	37	4	4239572	4239572	+	Silent	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr4:4239572G>A	ENST00000254742.2	-	4	1003	c.417C>T	c.(415-417)ctC>ctT	p.L139L	TMEM128_ENST00000540397.1_Silent_p.L163L|TMEM128_ENST00000538516.1_Intron|TMEM128_ENST00000382753.4_Silent_p.L163L	NM_032927.2	NP_116316.1	Q5BJH2	TM128_HUMAN	transmembrane protein 128	163						integral to membrane				endometrium(1)|kidney(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.166)		ATCATCCAAGGAGTGTGATAA	0.373000													6	25					0	0	0.00116845	0	0
SLC22A9	114571	broad.mit.edu	37	11	63149731	63149731	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr11:63149731C>T	ENST00000279178.3	+	6	1304	c.1055C>T	c.(1054-1056)tCc>tTc	p.S352F	SLC22A9_ENST00000310969.4_3'UTR	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	352					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						AAAAGGATCTCCCTCCTGTCC	0.403000													29	65					0	0	0.000339439	0	0
HMGCLL1	54511	broad.mit.edu	37	6	55378890	55378890	+	Silent	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr6:55378890C>T	ENST00000398661.2	-	6	719	c.588G>A	c.(586-588)gaG>gaA	p.E196E	HMGCLL1_ENST00000274901.4_Silent_p.E166E|HMGCLL1_ENST00000508459.1_Intron|HMGCLL1_ENST00000308161.4_Silent_p.E134E|HMGCLL1_ENST00000428842.1_Silent_p.E134E|HMGCLL1_ENST00000370850.2_Intron	NM_019036.2	NP_061909.2	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1	196							hydroxymethylglutaryl-CoA lyase activity|metal ion binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			TAACAACCTCCTCAAATTTTC	0.363000													26	56					0	0	0.000878237	0	0
VAT1L	57687	broad.mit.edu	37	16	77859226	77859226	+	Silent	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr16:77859226C>T	ENST00000302536.2	+	3	600	c.447C>T	c.(445-447)atC>atT	p.I149I		NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport 1-like	149							oxidoreductase activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						TCTACAAGATCCCGGATGACA	0.522000													16	30					0	0	0.000958276	0	0
COL11A1	1301	broad.mit.edu	37	1	103480069	103480069	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr1:103480069G>A	ENST00000358392.2	-	13	1923	c.1606C>T	c.(1606-1608)Cgg>Tgg	p.R536W	COL11A1_ENST00000512756.1_Missense_Mutation_p.R408W|COL11A1_ENST00000370096.3_Missense_Mutation_p.R524W|COL11A1_ENST00000353414.4_Missense_Mutation_p.R485W	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	524	Triple-helical region.				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)		TGTCTTACCCGAGCCTGCTGA	0.418000													11	23					0	0	0.00185496	0	0
SLITRK1	114798	broad.mit.edu	37	13	84454642	84454642	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr13:84454642G>A	ENST00000377084.2	-	1	1886	c.1001C>T	c.(1000-1002)cCc>cTc	p.P334L		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	334	LRRNT 2.					integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GTTAGCTAAGGGTTTGTTCCT	0.552000													28	47					0	0	0.00127121	0	0
LILRB2	10288	broad.mit.edu	37	19	54783720	54783720	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr19:54783720C>T	ENST00000391748.1	-	4	408	c.281G>A	c.(280-282)gGg>gAg	p.G94E	LILRB2_ENST00000391749.4_Missense_Mutation_p.G94E|LILRB2_ENST00000434421.1_5'UTR|LILRB2_ENST00000391746.1_Missense_Mutation_p.G94E|LILRB2_ENST00000471216.1_5'UTR|LILRB2_ENST00000314446.5_Missense_Mutation_p.G94E	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	94	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GCCATATCGCCCTGTGTGTTC	0.542000													23	63					0	0	0.000586117	0	0
PADI3	51702	broad.mit.edu	37	1	17597430	17597430	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr1:17597430G>A	ENST00000375460.3	+	8	928	c.888G>A	c.(886-888)tgG>tgA	p.W296*		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	296					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		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;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	TGGCACCCTGGATCATGACGC	0.622000													8	5					0	0	0.000274275	0	0
ADCY7	113	broad.mit.edu	37	16	50324451	50324451	+	Silent	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr16:50324451C>T	ENST00000394697.2	+	3	595	c.255C>T	c.(253-255)gtC>gtT	p.V85V	ADCY7_ENST00000564044.1_Intron|ADCY7_ENST00000254235.3_Silent_p.V85V|ADCY7_ENST00000566433.2_Silent_p.V85V|ADCY7_ENST00000538642.1_Silent_p.V85V|ADCY7_ENST00000537579.1_Silent_p.V85V			P51828	ADCY7_HUMAN	adenylate cyclase 7	85					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	TGATGTACGTCGAGTGTCTCC	0.642000													22	22					0	0	0.000720815	0	0
ANKRD20A4	728747	broad.mit.edu	37	9	69420422	69420422	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr9:69420422G>A	ENST00000357336.3	+	13	1593	c.1312G>A	c.(1312-1314)Gat>Aat	p.D438N		NM_001098805.1	NP_001092275.1	Q4UJ75	A20A4_HUMAN	ankyrin repeat domain 20 family, member A4	438										breast(1)|large_intestine(1)|liver(1)|lung(9)|pancreas(2)|skin(2)	16						GGAAGAGCATGATAGGTAAGC	0.378000													22	195					0	0	0.00106085	0	0
KLKB1	3818	broad.mit.edu	37	4	187172640	187172640	+	Splice_Site	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr4:187172640G>A	ENST00000264690.6	+	9	1055		c.e9-1		KLKB1_ENST00000513864.1_Splice_Site	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1						blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		AATTGACACAGAACCCTGCCA	0.378000													16	63					0	0	0.000422831	0	0
AADAC	13	broad.mit.edu	37	3	151545805	151545805	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr3:151545805G>A	ENST00000232892.6	+	5	1171	c.1045G>A	c.(1045-1047)Gga>Aga	p.G349R	RP11-454C18.2_ENST00000475855.1_RNA|RP11-454C18.2_ENST00000483843.2_RNA	NM_001086.2	NP_001077.2	P22760	AAAD_HUMAN	arylacetamide deacetylase	349					positive regulation of triglyceride catabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2)	19		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			AAGAGATGATGGACTCATGTA	0.458000													26	76					0	0	0.000586117	0	0
ANGPTL6	83854	broad.mit.edu	37	19	10204224	10204224	+	Silent	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr19:10204224C>T	ENST00000253109.4	-	5	1261	c.1023G>A	c.(1021-1023)ggG>ggA	p.G341G	ANGPTL6_ENST00000592641.1_Silent_p.G341G|ANGPTL6_ENST00000589181.1_Silent_p.G301G	NM_031917.2	NP_114123.2	Q8NI99	ANGL6_HUMAN	angiopoietin-like 6	341	Fibrinogen C-terminal.				angiogenesis|cell differentiation|signal transduction	extracellular space	receptor binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)	12			OV - Ovarian serous cystadenocarcinoma(20;3.58e-08)|Epithelial(33;2.5e-05)|all cancers(31;5.96e-05)			GCTCATGGTCCCCACGGCTGG	0.647000													5	5					0	0	0.000602214	0	0
ADAM18	8749	broad.mit.edu	37	8	39468101	39468101	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr8:39468101C>T	ENST00000265707.5	+	6	443	c.398C>T	c.(397-399)tCa>tTa	p.S133L	ADAM18_ENST00000520772.1_Missense_Mutation_p.S133L|ADAM18_ENST00000541111.1_Intron|ADAM18_ENST00000379866.1_Missense_Mutation_p.S133L	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	133					cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			GTAGAATCTTCAGCAAGATTT	0.303000													20	34					0	0	0.00121646	0	0
CCDC33	80125	broad.mit.edu	37	15	74573098	74573098	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr15:74573098G>A	ENST00000321288.5	+	11	1588	c.1588G>A	c.(1588-1590)Ggg>Agg	p.G530R	CCDC33_ENST00000398814.3_Missense_Mutation_p.G327R			Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	530							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						GATGCTGACAGGGAAAGGCTT	0.642000													12	22					0	0	0.000219431	0	0
SLC2A12	154091	broad.mit.edu	37	6	134350812	134350812	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr6:134350812C>T	ENST00000275230.5	-	2	306	c.151G>A	c.(151-153)Ggc>Agc	p.G51S		NM_145176.2	NP_660159.1	Q8TD20	GTR12_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 12	51						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		ACCAGGAGGCCACTGACAGCA	0.498000													22	51					0	0	0.000375601	0	0
GPR116	221395	broad.mit.edu	37	6	46826469	46826469	+	Silent	SNP	G	G	A	rs151037028		TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr6:46826469G>A	ENST00000283296.7	-	17	3459	c.3171C>T	c.(3169-3171)atC>atT	p.I1057I	GPR116_ENST00000362015.4_Silent_p.I1057I|GPR116_ENST00000545669.1_Silent_p.I486I|GPR116_ENST00000456426.2_Silent_p.I915I|GPR116_ENST00000265417.7_Silent_p.I1057I	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	1057					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.I1057I(2)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			GGGAGGCAGCGATATTCACTA	0.537000													17	21					0	0	0.00121646	0	0
CUX2	23316	broad.mit.edu	37	12	111779843	111779843	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr12:111779843G>T	ENST00000261726.6	+	21	3799	c.3645G>T	c.(3643-3645)tgG>tgT	p.W1215C		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1215						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						TCATCAACTGGTTCCACAACT	0.622000													13	29					1.5739e-10	1.17173e-09	0.000422831	1	0
GOLGB1	2804	broad.mit.edu	37	3	121416751	121416751	+	Silent	SNP	A	A	G			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr3:121416751A>G	ENST00000393667.3	-	13	2729	c.2619T>C	c.(2617-2619)ctT>ctC	p.L873L	GOLGB1_ENST00000340645.5_Silent_p.L868L	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	868					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		CCTTCTGTGAAAGAGCCTGGG	0.443000													37	164					0	0	0.000814825	0	0
CHST15	51363	broad.mit.edu	37	10	125771987	125771987	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr10:125771987G>A	ENST00000346248.5	-	7	1999	c.1357C>T	c.(1357-1359)Cag>Tag	p.Q453*	CHST15_ENST00000435907.1_Nonsense_Mutation_p.Q453*	NM_001270764.1|NM_015892.3	NP_001257693.1|NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	453					hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						AGCCCAACCTGGAGCCTCACC	0.493000													11	10					0	0	0.000219431	0	0
FOXA1	3169	broad.mit.edu	37	14	38064108	38064108	+	Missense_Mutation	SNP	C	C	T	rs147437212		TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr14:38064108C>T	ENST00000250448.2	-	1	131	c.70G>A	c.(70-72)Gag>Aag	p.E24K	FOXA1_ENST00000540786.1_Intron	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	24					chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|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|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		CCTCTCACCTCCTGCGTGTCT	0.677000													5	12					0	0	8.12818e-05	0	0
DCLK3	85443	broad.mit.edu	37	3	36779908	36779908	+	Silent	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr3:36779908C>T	ENST00000416516.2	-	2	733	c.243G>A	c.(241-243)gaG>gaA	p.E81E		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	81						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						GTGAAAGCTCCTCGGGGATCT	0.612000													26	31					0	0	0.001512	0	0
TACR3	6870	broad.mit.edu	37	4	104512789	104512789	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr4:104512789G>A	ENST00000304883.2	-	4	1080	c.940C>T	c.(940-942)Ccc>Tcc	p.P314S	RP11-297P16.3_ENST00000512401.1_RNA|RP11-297P16.3_ENST00000502936.1_RNA	NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	314						integral to plasma membrane	tachykinin receptor activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		ATATGATAGGGCAGCCAGCAG	0.343000													17	21					0	0	0.000958276	0	0
TM9SF1	10548	broad.mit.edu	37	14	24659650	24659650	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr14:24659650G>A	ENST00000556387.1	-	9	2023	c.1990C>T	c.(1990-1992)Cca>Tca	p.P664S	TM9SF1_ENST00000528669.1_Missense_Mutation_p.P455S|TM9SF1_ENST00000524835.1_Missense_Mutation_p.P368S|TM9SF1_ENST00000530611.1_Missense_Mutation_p.P664S|TM9SF1_ENST00000261789.4_Missense_Mutation_p.P455S|TM9SF1_ENST00000396854.4_Missense_Mutation_p.P455S			O15321	TM9S1_HUMAN	transmembrane 9 superfamily member 1	455					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				NS(1)|breast(4)|endometrium(3)|large_intestine(11)|lung(4)|ovary(1)	24				GBM - Glioblastoma multiforme(265;0.0183)		GGCTGGGGTGGAATCTCCCGG	0.542000													21	40					0	0	0.000295444	0	0
NOX5	79400	broad.mit.edu	37	15	69339775	69339775	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr15:69339775G>A	ENST00000260364.5	+	13	1962	c.1661G>A	c.(1660-1662)gGg>gAg	p.G554E	NOX5_ENST00000530406.2_Missense_Mutation_p.G544E|NOX5_ENST00000388866.3_Missense_Mutation_p.G572E|NOX5_ENST00000448182.3_Missense_Mutation_p.G526E|NOX5_ENST00000455873.3_Missense_Mutation_p.G537E|NOX5_ENST00000525163.1_3'UTR			Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	572	C-terminal catalytic region.|FAD-binding FR-type.				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						GGGCCTTATGGGACCCCCACC	0.597000													18	32					0	0	0.000586117	0	0
CCNF	899	broad.mit.edu	37	16	2493771	2493771	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr16:2493771C>T	ENST00000397066.4	+	9	987	c.899C>T	c.(898-900)tCc>tTc	p.S300F		NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN	cyclin F	300	Cyclin N-terminal.				cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	centriole|nucleus|SCF ubiquitin ligase complex	protein binding			breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				CAAGTCTTCTCCGTGCAGAAG	0.557000													16	33					0	0	0.00121646	0	0
SYNDIG1L	646658	broad.mit.edu	37	14	74874253	74874253	+	Silent	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr14:74874253C>T	ENST00000331628.3	-	4	949	c.702G>A	c.(700-702)caG>caA	p.Q234Q	SYNDIG1L_ENST00000554823.1_Silent_p.Q234Q	NM_001105579.1	NP_001099049.1	A6NDD5	SYN1L_HUMAN	synapse differentiation inducing 1-like	234					response to biotic stimulus	Golgi apparatus|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|lung(8)|pancreas(1)|prostate(1)|skin(1)	14						CATGACCGTTCTGGGACATGT	0.647000													10	33					0	0	0.000673444	0	0
FAT4	79633	broad.mit.edu	37	4	126242577	126242577	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr4:126242577C>T	ENST00000394329.3	+	1	5024	c.5011C>T	c.(5011-5013)Cgt>Tgt	p.R1671C		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1671	Cadherin 16.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R1671C(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TGTTTCAGTTCGTTGTGAAGA	0.463000													40	50					0	0	0.00195071	0	0
GABRG1	2565	broad.mit.edu	37	4	46060580	46060580	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr4:46060580C>T	ENST00000295452.4	-	6	852	c.685G>A	c.(685-687)Gat>Aat	p.D229N		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	229					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		TATTTAGGATCAGCCACTTCT	0.348000													20	26					0	0	0.00121646	0	0
FNDC1	84624	broad.mit.edu	37	6	159692419	159692419	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr6:159692419C>T	ENST00000297267.9	+	23	5830	c.5630C>T	c.(5629-5631)cCc>cTc	p.P1877L	FNDC1_ENST00000340366.6_Missense_Mutation_p.P1814L	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1877						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		TTCGGAACCCCCTACTACTAT	0.587000													3	7					0	0	0.000602214	0	0
FRMD4B	23150	broad.mit.edu	37	3	69247890	69247890	+	Silent	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr3:69247890G>A	ENST00000542259.1	-	13	1201	c.750C>T	c.(748-750)ttC>ttT	p.F250F	FRMD4B_ENST00000478263.1_5'UTR|FRMD4B_ENST00000398540.3_Silent_p.F304F			Q9Y2L6	FRM4B_HUMAN	FERM domain containing 4B	304	FERM.					cytoplasm|cytoskeleton	binding			NS(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(2)	19		Lung NSC(201;0.0138)|Prostate(884;0.11)		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)		TTTTCTCACGGAAATATAAGT	0.338000													5	12					0	0	0.00116845	0	0
EPHA3	2042	broad.mit.edu	37	3	89445047	89445047	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr3:89445047C>T	ENST00000336596.2	+	6	1592	c.1367C>T	c.(1366-1368)tCc>tTc	p.S456F	EPHA3_ENST00000452448.2_Missense_Mutation_p.S456F|EPHA3_ENST00000494014.1_Missense_Mutation_p.S456F	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	456	Fibronectin type-III 2.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		ATCTCTTTGTCCTGGCAAGAA	0.463000										TSP Lung(6;0.00050)			35	66					0	0	0.000692331	0	0
FAM83H	286077	broad.mit.edu	37	8	144808130	144808130	+	Silent	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr8:144808130G>A	ENST00000388913.3	-	5	3626	c.3501C>T	c.(3499-3501)ttC>ttT	p.F1167F		NM_198488.3	NP_940890.3	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	1167					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)			TCTTGGGCACGAACTTGCCCA	0.647000													7	21					0	0	0.000442599	0	0
SGCA	6442	broad.mit.edu	37	17	48247705	48247705	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr17:48247705G>A	ENST00000262018.3	+	7	985	c.949G>A	c.(949-951)Gag>Aag	p.E317K	SGCA_ENST00000344627.6_Intron|SGCA_ENST00000513942.1_Intron|SGCA_ENST00000543315.1_Intron	NM_000023.2	NP_000014.1	Q16586	SGCA_HUMAN	sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)	317					muscle contraction|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|skin(1)	14						CTGCCGGCGGGAGGGAAGGTG	0.627000													22	51					0	0	0.00047179	0	0
C16orf71	146562	broad.mit.edu	37	16	4794906	4794906	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr16:4794906G>A	ENST00000299320.5	+	6	1415	c.937G>A	c.(937-939)Gaa>Aaa	p.E313K	RP11-127I20.7_ENST00000588099.1_RNA|C16orf71_ENST00000590191.1_Missense_Mutation_p.E327K	NM_139170.2	NP_631909.2	Q8IYS4	CP071_HUMAN	chromosome 16 open reading frame 71	313										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)	11						CAGGCTCATGGAACAGCTGGC	0.612000													11	19					0	0	0.00136819	0	0
OR7G2	390882	broad.mit.edu	37	19	9213420	9213420	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr19:9213420G>A	ENST00000305456.2	-	1	562	c.563C>T	c.(562-564)tCc>tTc	p.S188F		NM_001005193.1	NP_001005193.1	Q8NG99	OR7G2_HUMAN	olfactory receptor, family 7, subfamily G, member 2	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3)	16						TGTGCAGAAGGACAGCCTCAA	0.498000													7	22					0	0	0.000157383	0	0
RGS7	6000	broad.mit.edu	37	1	241146407	241146407	+	Silent	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr1:241146407C>T	ENST00000366565.1	-	4	579	c.198G>A	c.(196-198)ttG>ttA	p.L66L	RGS7_ENST00000401882.1_Silent_p.L66L|RGS7_ENST00000348120.2_Silent_p.L66L|RGS7_ENST00000446183.2_5'UTR|RGS7_ENST00000366562.4_Silent_p.L66L|RGS7_ENST00000407727.1_Silent_p.L66L|RGS7_ENST00000331110.7_Silent_p.L40L|RGS7_ENST00000366563.1_Silent_p.L66L|RGS7_ENST00000366564.1_Silent_p.L66L	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	66	DEP.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			AGTTCTTTATCAACCATTGAA	0.284000													11	10					0	0	0.00136819	0	0
CHRM2	1129	broad.mit.edu	37	7	136700442	136700442	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr7:136700442G>A	ENST00000445907.2	+	3	1358	c.830G>A	c.(829-831)gGa>gAa	p.G277E	AC009264.1_ENST00000598184.1_RNA|AC009264.1_ENST00000425981.2_RNA|AC009264.1_ENST00000597642.1_RNA|AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000592183.1_RNA|CHRM2_ENST00000453373.1_Missense_Mutation_p.G277E|AC009264.1_ENST00000586239.1_RNA|AC009264.1_ENST00000439694.1_RNA|CHRM2_ENST00000401861.1_Missense_Mutation_p.G277E|CHRM2_ENST00000397608.3_Missense_Mutation_p.G277E|CHRM2_ENST00000402486.3_Missense_Mutation_p.G277E|CHRM2_ENST00000320658.5_Missense_Mutation_p.G277E	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	277					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	TGTGTTCAGGGAGAGGAGAAG	0.478000													8	29					0	0	0.000274275	0	0
LAMA3	3909	broad.mit.edu	37	18	21483967	21483967	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr18:21483967C>T	ENST00000313654.9	+	50	6630	c.6389C>T	c.(6388-6390)tCc>tTc	p.S2130F	LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000399516.3_Missense_Mutation_p.S2074F|LAMA3_ENST00000269217.6_Missense_Mutation_p.S521F|LAMA3_ENST00000587184.1_Missense_Mutation_p.S465F	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2130	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGAGAACTTTCCAGATCTGCT	0.428000													32	91					0	0	0.000814825	0	0
COL5A3	50509	broad.mit.edu	37	19	10091339	10091339	+	Silent	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr19:10091339C>T	ENST00000264828.3	-	35	2674	c.2589G>A	c.(2587-2589)ggG>ggA	p.G863G		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	863	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			CTCCAGGGATCCCAGGGGCTC	0.527000													5	9					0	0	8.12818e-05	0	0
KIAA2022	340533	broad.mit.edu	37	X	73960579	73960579	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chrX:73960579C>T	ENST00000373468.1	-	3	4464	c.3813G>A	c.(3811-3813)atG>atA	p.M1271I	KIAA2022_ENST00000055682.5_Missense_Mutation_p.M1271I			Q5QGS0	K2022_HUMAN	KIAA2022	1271					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TTGGCATCTTCATAGAGGCCA	0.532000													13	6					0	0	0.000219431	0	0
DIP2A	23181	broad.mit.edu	37	21	47916994	47916994	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr21:47916994C>T	ENST00000318711.7	+	4	560	c.377C>T	c.(376-378)tCg>tTg	p.S126L	DIP2A_ENST00000427143.2_Missense_Mutation_p.S62L|DIP2A_ENST00000400274.1_Missense_Mutation_p.S126L|DIP2A_ENST00000417564.2_Missense_Mutation_p.S126L|DIP2A_ENST00000466639.1_Missense_Mutation_p.S126L|DIP2A_ENST00000457905.3_Missense_Mutation_p.S126L|DIP2A_ENST00000435722.3_Missense_Mutation_p.S126L	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	126					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		CTTGTGCATTCGTCTGTGGAA	0.453000													8	18					0	0	0.000274275	0	0
GBE1	2632	broad.mit.edu	37	3	81643160	81643160	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr3:81643160C>T	ENST00000429644.2	-	8	1650	c.1007G>A	c.(1006-1008)aGa>aAa	p.R336K	GBE1_ENST00000489715.1_Missense_Mutation_p.R295K	NM_000158.3	NP_000149.3	Q04446	GLGB_HUMAN	glucan (1,4-alpha-), branching enzyme 1	336					glucose metabolic process|glycogen biosynthetic process	cytosol	1,4-alpha-glucan branching enzyme activity|cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Lung NSC(201;0.0117)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)		CAGAAGGAATCTTAAAATTTC	0.318000									Glycogen Storage Disease, type IV				4	15					0	0	0.00024832	0	0
NOVA1	4857	broad.mit.edu	37	14	26917454	26917454	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr14:26917454C>T	ENST00000539517.2	-	5	1552	c.1235G>A	c.(1234-1236)gGa>gAa	p.G412E	NOVA1_ENST00000267422.7_Missense_Mutation_p.G290E|NOVA1_ENST00000465357.2_Missense_Mutation_p.G388E	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	415	Ala-rich.				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		CTTTTCTGTTCCTAGAATGGC	0.478000													24	39					0	0	0.000720815	0	0
DNM3	26052	broad.mit.edu	37	1	171890961	171890961	+	Splice_Site	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr1:171890961G>A	ENST00000358155.4	+	2	411	c.235_splice	c.e2+1	p.E79_splice	DNM3_ENST00000520906.1_Splice_Site_p.E79_splice|DNM3_ENST00000367731.1_Splice_Site_p.E79_splice|DNM3_ENST00000367733.2_Splice_Site_p.E79_splice|DNM3_ENST00000355305.5_Splice_Site_p.E79_splice	NM_015569.3	NP_056384.2	Q9UQ16	DYN3_HUMAN	dynamin 3	79					endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						TTCTAAAGCAGGTAATGAATG	0.433000													5	8					0	0	0.000602214	0	0
PTGDR	5729	broad.mit.edu	37	14	52735365	52735365	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr14:52735365C>T	ENST00000306051.2	+	1	935	c.833C>T	c.(832-834)tCt>tTt	p.S278F	PTGDR_ENST00000553372.1_Missense_Mutation_p.S278F	NM_000953.2	NP_000944.1	Q13258	PD2R_HUMAN	prostaglandin D2 receptor (DP)	278						integral to membrane|plasma membrane	prostaglandin D receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)	ACTATGTGTTCTCTGCCCGTA	0.682000													43	64					0	0	0.000781405	0	0
ULK1	8408	broad.mit.edu	37	12	132395278	132395278	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr12:132395278C>T	ENST00000321867.4	+	12	1232	c.881C>T	c.(880-882)tCg>tTg	p.S294L		NM_003565.2	NP_003556.1	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	294	Interaction with GABARAP and GABARAPL2.				autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		CCTGTGCCCTCGTACCCAAGC	0.657000													13	34					0	0	0.000422831	0	0
ZNF286B	729288	broad.mit.edu	37	17	18584124	18584124	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr17:18584124G>A	ENST00000545289.1	-	3	306	c.56C>T	c.(55-57)tCt>tTt	p.S19F		NM_001145045.1	NP_001138517.1	P0CG31	Z286B_HUMAN	zinc finger protein 286B	19					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(1)	2						GAAATGGGGAGAATCCTGGGA	0.468000													4	22					0	0	0.000157383	0	0
UPK1B	7348	broad.mit.edu	37	3	118906807	118906807	+	Silent	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr3:118906807G>A	ENST00000264234.3	+	3	404	c.255G>A	c.(253-255)agG>agA	p.R85R	UPK1B_ENST00000460625.1_Silent_p.R85R|UPK1B_ENST00000497685.1_Silent_p.R5R	NM_006952.3	NP_008883.2	O75841	UPK1B_HUMAN	uroplakin 1B	85					epithelial cell differentiation	integral to membrane	structural molecule activity			breast(1)|endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	14				GBM - Glioblastoma multiforme(114;0.222)		AGTCCAGCAGGAAAATTCTTC	0.468000													42	51					0	0	0.000781405	0	0
KALRN	8997	broad.mit.edu	37	3	124157777	124157777	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr3:124157777G>A	ENST00000360013.3	+	18	3212	c.3085G>A	c.(3085-3087)Gat>Aat	p.D1029N	KALRN_ENST00000240874.3_Missense_Mutation_p.D1029N|KALRN_ENST00000460856.1_Missense_Mutation_p.D1020N	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1029					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						ATACCGGAGAGATGAGGACTG	0.453000													8	26					0	0	0.000442599	0	0
SERPINA4	5267	broad.mit.edu	37	14	95030163	95030163	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr14:95030163C>T	ENST00000557004.1	+	2	765	c.344C>T	c.(343-345)tCc>tTc	p.S115F	SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000298841.5_Missense_Mutation_p.S115F|SERPINA4_ENST00000555095.1_Missense_Mutation_p.S115F			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	115					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		CTGTCTGAGTCCGATGTCCAT	0.632000													12	30					0	0	0.00136819	0	0
RIN3	79890	broad.mit.edu	37	14	93118768	93118768	+	Silent	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr14:93118768C>T	ENST00000216487.7	+	6	1533	c.1374C>T	c.(1372-1374)gtC>gtT	p.V458V	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	458	Pro-rich.				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				AACCCCCAGTCCCGCCCCCCA	0.627000													17	20					0	0	0.00188189	0	0
NKX2-3	159296	broad.mit.edu	37	10	101293204	101293204	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr10:101293204G>A	ENST00000344586.7	+	1	515	c.316G>A	c.(316-318)Gaa>Aaa	p.E106K		NM_145285.2	NP_660328.2	Q8TAU0	NKX23_HUMAN	NK2 homeobox 3	106						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	5		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.45e-08)		CGAGCCCAAGGAACATGAAGA	0.612000													4	3					0	0	0.00024832	0	0
FAM171A1	221061	broad.mit.edu	37	10	15255701	15255701	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr10:15255701G>A	ENST00000378116.4	-	8	1892	c.1886C>T	c.(1885-1887)cCg>cTg	p.P629L		NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	629						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						CTGTGAGGACGGGTGTGGGAA	0.622000													21	43					0	0	0.00152264	0	0
CSMD1	64478	broad.mit.edu	37	8	2820047	2820047	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr8:2820047G>A	ENST00000520002.1	-	62	10127	c.9572C>T	c.(9571-9573)tCc>tTc	p.S3191F	CSMD1_ENST00000400186.3_Missense_Mutation_p.S3014F|CSMD1_ENST00000602723.1_Missense_Mutation_p.S3014F|CSMD1_ENST00000602557.1_Missense_Mutation_p.S3191F|CSMD1_ENST00000542608.1_Missense_Mutation_p.S3013F|CSMD1_ENST00000537824.1_Missense_Mutation_p.S3190F			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3191	Sushi 26.					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)		TCTTCTGGAGGATCCCACGAG	0.502000													8	24					0	0	0.000274275	0	0
IGSF22	283284	broad.mit.edu	37	11	18736059	18736059	+	Silent	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr11:18736059C>T	ENST00000513874.1	-	12	1783	c.1644G>A	c.(1642-1644)aaG>aaA	p.K548K	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859.3	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	548										NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						CCTTGCCATCCTTCAGCCACA	0.617000													29	62					0	0	0.000491102	0	0
MTAP	4507	broad.mit.edu	37	9	21931137	21931137	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr9:21931137C>T	ENST00000580900.1	+	8	1044	c.944C>T	c.(943-945)cCc>cTc	p.P315L	RP11-145E5.5_ENST00000404796.2_Intron			Q13126	MTAP_HUMAN	methylthioadenosine phosphorylase	0					nucleoside metabolic process	cytoplasm	phosphorylase activity|S-methyl-5-thioadenosine phosphorylase activity	p.0(1)|p.0?(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|lung(3)|pancreas(1)	10		all_cancers(5;0)|Hepatocellular(5;0.00162)|Colorectal(97;0.173)		GBM - Glioblastoma multiforme(3;0)|Lung(24;2.24e-57)|LUSC - Lung squamous cell carcinoma(38;1.97e-36)|STAD - Stomach adenocarcinoma(4;3.26e-05)|OV - Ovarian serous cystadenocarcinoma(39;0.00931)|COAD - Colon adenocarcinoma(8;0.15)	Adenine(DB00173)	cccctgtctcccttagacctg	0.527000													3	3					0	0	6.4e-05	0	0
SLC27A6	28965	broad.mit.edu	37	5	128351718	128351718	+	Silent	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr5:128351718C>T	ENST00000262462.4	+	5	2120	c.1110C>T	c.(1108-1110)ttC>ttT	p.F370F	SLC27A6_ENST00000395266.1_Silent_p.F370F|SLC27A6_ENST00000506176.1_Silent_p.F370F			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	370					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		GCATATCTTTCATGAACTACA	0.368000													29	65					0	0	0.000491102	0	0
CLGN	1047	broad.mit.edu	37	4	141317331	141317331	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr4:141317331C>T	ENST00000325617.5	-	9	1353	c.913G>A	c.(913-915)Gat>Aat	p.D305N	CLGN_ENST00000537281.1_Missense_Mutation_p.D305N|CLGN_ENST00000414773.1_Missense_Mutation_p.D305N	NM_004362.2	NP_004353.1	O14967	CLGN_HUMAN	calmegin	305					protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					ACACTTGAATCTTCTATTTGG	0.353000													47	115					0	0	0.000781405	0	0
RYR1	6261	broad.mit.edu	37	19	38951100	38951100	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr19:38951100C>T	ENST00000355481.4	+	20	2577	c.2446C>T	c.(2446-2448)Cct>Tct	p.P816S	RYR1_ENST00000359596.3_Missense_Mutation_p.P816S|RYR1_ENST00000360985.3_Missense_Mutation_p.P816S	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	816					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GGCTGTGCTCCCTCGAGAGCG	0.632000													20	27					0	0	0.00188189	0	0
SARDH	1757	broad.mit.edu	37	9	136584083	136584083	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr9:136584083C>T	ENST00000371872.4	-	7	1254	c.997G>A	c.(997-999)Gcc>Acc	p.A333T	SARDH_ENST00000371867.1_Missense_Mutation_p.A244T|SARDH_ENST00000422262.2_Missense_Mutation_p.A165T|SARDH_ENST00000439388.1_Missense_Mutation_p.A333T	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	333					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		ATGGGGTTGGCCTCATAGCCA	0.572000													15	21					0	0	0.00074312	0	0
EFTUD1	79631	broad.mit.edu	37	15	82444623	82444623	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr15:82444623A>C	ENST00000268206.7	-	18	2340	c.2172T>G	c.(2170-2172)gaT>gaG	p.D724E	EFTUD1_ENST00000359445.3_Missense_Mutation_p.D673E	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain containing 1	724					mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						TTTTGCTTTGATCTTCTTTCA	0.428000													58	110					0	0	0.000781405	0	0
TTN	7273	broad.mit.edu	37	2	179496019	179496019	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr2:179496019G>A	ENST00000589042.1	-	237	43980	c.43756C>T	c.(43756-43758)Cca>Tca	p.P14586S	TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P12018S|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P5646S|TTN_ENST00000460472.2_Missense_Mutation_p.P5521S|TTN_ENST00000591111.1_Missense_Mutation_p.P12945S|TTN_ENST00000342175.6_Missense_Mutation_p.P5713S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12945	Fibronectin type-III 5.						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)			GTAAAATATGGGTCTCCCTCT	0.353000													5	9					0	0	8.12818e-05	0	0
ISLR	3671	broad.mit.edu	37	15	74468452	74468452	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr15:74468452G>A	ENST00000249842.3	+	2	1610	c.1253G>A	c.(1252-1254)aGc>aAc	p.S418N	ISLR_ENST00000395118.1_Missense_Mutation_p.S418N|RP11-665J16.1_ENST00000561647.1_RNA	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN	immunoglobulin superfamily containing leucine-rich repeat	418					cell adhesion	extracellular region				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						CTGGGCCAAAGCCTCCTCCTC	0.632000													6	23					0	0	8.12818e-05	0	0
PCDHA6	56142	broad.mit.edu	37	5	140208003	140208003	+	Silent	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr5:140208003C>T	ENST00000529310.1	+	1	441	c.327C>T	c.(325-327)atC>atT	p.I109I	PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Silent_p.I109I|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1												p.I109I(2)		NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGAGGTGATCGTGGACAGGC	0.557000													28	74					0	0	0.000814825	0	0
SPATA16	83893	broad.mit.edu	37	3	172694798	172694798	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr3:172694798C>T	ENST00000351008.3	-	5	1076	c.893G>A	c.(892-894)aGg>aAg	p.R298K		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	298					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			GCTCTCTTCCCTTCCTCCACC	0.398000													35	109					0	0	0.00128727	0	0
EDAR	10913	broad.mit.edu	37	2	109522810	109522810	+	Silent	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr2:109522810C>T	ENST00000409271.1	-	11	1517	c.1074G>A	c.(1072-1074)agG>agA	p.R358R	EDAR_ENST00000376651.1_Silent_p.R358R|EDAR_ENST00000258443.2_Silent_p.R326R			Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	326	Death.		R -> Q (in EDA).		apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						GGATCTTTTTCCTCCGGCTTT	0.507000													17	44					0	0	0.00152264	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110509276	110509276	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr8:110509276G>A	ENST00000378402.5	+	64	10560	c.10456G>A	c.(10456-10458)Gat>Aat	p.D3486N		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3486					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GACATGCTGGGATTATGGAAT	0.338000										HNSCC(38;0.096)			26	66					0	0	0.000878237	0	0
FLG	2312	broad.mit.edu	37	1	152283838	152283838	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr1:152283838C>T	ENST00000368799.1	-	3	3559	c.3524G>A	c.(3523-3525)gGa>gAa	p.G1175E	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1175	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)			TCCCTGCCTTCCTCCTCTCCT	0.597000									Ichthyosis				70	140					0	0	0.000781405	0	0
PLCB4	5332	broad.mit.edu	37	20	9417698	9417698	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr20:9417698G>A	ENST00000378501.2	+	26	2642	c.2627G>A	c.(2626-2628)gGa>gAa	p.G876E	PLCB4_ENST00000414679.2_Missense_Mutation_p.G888E|PLCB4_ENST00000378493.1_Missense_Mutation_p.G876E|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378473.3_Missense_Mutation_p.G888E|PLCB4_ENST00000334005.3_Missense_Mutation_p.G876E|PLCB4_ENST00000278655.4_Missense_Mutation_p.G876E	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	876					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						GACAAGAAAGGAAAGGCCAAC	0.498000													13	5					0	0	0.00185496	0	0
TSSK1B	83942	broad.mit.edu	37	5	112770497	112770497	+	Silent	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr5:112770497G>A	ENST00000390666.3	-	1	231	c.40C>T	c.(40-42)Ctg>Ttg	p.L14L	CTD-2201G3.1_ENST00000416046.2_RNA|MCC_ENST00000408903.3_Intron|CTD-2201G3.1_ENST00000383058.4_RNA	NM_032028.3	NP_114417.1	Q9BXA7	TSSK1_HUMAN	testis-specific serine kinase 1B	14	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(8)|ovary(2)|skin(2)|stomach(1)	13		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)		TTTATCCCCAGGAGGTAGCCT	0.552000													12	23					0	0	0.000219431	0	0
CRYGB	1419	broad.mit.edu	37	2	209010679	209010679	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr2:209010679G>C	ENST00000260988.4	-	2	118	c.71C>G	c.(70-72)cCc>cGc	p.P24R		NM_005210.3	NP_005201.2	P07316	CRGB_HUMAN	crystallin, gamma B	24	Beta/gamma crystallin 'Greek key' 1.				visual perception		structural constituent of eye lens			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)	14				Epithelial(149;0.0641)|LUSC - Lung squamous cell carcinoma(261;0.0703)|Lung(261;0.132)		TTGTAGGTTGGGGCAGTCAGT	0.567000													3	21					0	0	6.4e-05	0	0
CASR	846	broad.mit.edu	37	3	122002865	122002865	+	Silent	SNP	C	C	T	rs150869744	byFrequency	TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr3:122002865C>T	ENST00000498619.1	+	7	2532	c.2094C>T	c.(2092-2094)ttC>ttT	p.F698F	CASR_ENST00000296154.5_Silent_p.F688F|CASR_ENST00000490131.1_Silent_p.F688F	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	688					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	GCATCAGCTTCGTGCTCTGCA	0.612000													21	84					0	0	0.000375601	0	0
SCN11A	11280	broad.mit.edu	37	3	38889116	38889116	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr3:38889116C>T	ENST00000450244.1	-	26	4643	c.4445G>A	c.(4444-4446)gGa>gAa	p.G1482E	SCN11A_ENST00000302328.3_Missense_Mutation_p.G1482E|SCN11A_ENST00000456224.3_Missense_Mutation_p.G1444E			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1482					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	AGTCCTGATTCCTCGTGCAGC	0.488000													10	12					0	0	0.000978159	0	0
TMEM132B	114795	broad.mit.edu	37	12	125834343	125834343	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr12:125834343G>A	ENST00000299308.3	+	2	406	c.398G>A	c.(397-399)aGa>aAa	p.R133K	TMEM132B_ENST00000418253.2_3'UTR	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	133						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		TACTCCAACAGACCCAAAGTG	0.468000													42	65					0	0	0.000509022	0	0
RICTOR	253260	broad.mit.edu	37	5	38950648	38950648	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr5:38950648G>A	ENST00000357387.3	-	31	3332	c.3302C>T	c.(3301-3303)tCg>tTg	p.S1101L	RICTOR_ENST00000296782.5_Missense_Mutation_p.S1101L	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN	RPTOR independent companion of MTOR, complex 2	1101					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding	p.S1101L(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					CAAAGTAAGCGAATTTAAGAT	0.368000													29	74					0	0	0.00127121	0	0
IFT140	9742	broad.mit.edu	37	16	1652443	1652443	+	Silent	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr16:1652443G>A	ENST00000426508.2	-	4	660	c.297C>T	c.(295-297)ccC>ccT	p.P99P	LA16c-395F10.2_ENST00000563162.1_RNA|IFT140_ENST00000439987.2_5'UTR	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140 homolog (Chlamydomonas)	99										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				TGTGTGTCAGGGGCATCGTGT	0.617000													8	18					0	0	0.000157383	0	0
HRSP12	10247	broad.mit.edu	37	8	99120933	99120933	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr8:99120933C>A	ENST00000254878.3	-	2	256	c.112G>T	c.(112-114)Ggc>Tgc	p.G38C		NM_005836.2	NP_005827.1	P52758	UK114_HUMAN	heat-responsive protein 12	38					regulation of translational termination	nucleus	endonuclease activity			large_intestine(3)|lung(1)|ovary(1)|urinary_tract(1)	6	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.214)			GGGTCCATGCCTATCTGTCCT	0.378000													31	67					2.20474e-14	1.64866e-13	0.000692331	1	0
PCDH15	65217	broad.mit.edu	37	10	55583013	55583013	+	Silent	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr10:55583013C>T	ENST00000361849.3	-	34	4873	c.4479G>A	c.(4477-4479)gaG>gaA	p.E1493E	PCDH15_ENST00000320301.6_Silent_p.E1491E|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395430.1_Silent_p.E1488E|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395432.2_Silent_p.E1451E|PCDH15_ENST00000437009.1_Silent_p.E1422E|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395433.1_Silent_p.E1468E	NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1	NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1491					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ACTTGTGAGCCTCAATAGTAT	0.408000										HNSCC(58;0.16)			23	15					0	0	0.000375601	0	0
ZNF675	171392	broad.mit.edu	37	19	23844919	23844919	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr19:23844919G>A	ENST00000359788.4	-	3	391	c.223C>T	c.(223-225)Cca>Tca	p.P75S	ZNF675_ENST00000601010.1_Missense_Mutation_p.P75S|ZNF675_ENST00000599168.1_Missense_Mutation_p.P75S|ZNF675_ENST00000596211.1_Missense_Mutation_p.P75S|ZNF675_ENST00000601935.1_Missense_Mutation_p.P75S|ZNF675_ENST00000600313.1_Missense_Mutation_p.P75S	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	75	KRAB.				bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				CACTTACCTGGGGGTTCATTC	0.438000													22	76					0	0	0.00047179	0	0
C8orf34	116328	broad.mit.edu	37	8	69445360	69445360	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr8:69445360G>A	ENST00000337103.4	+	6	2340	c.748G>A	c.(748-750)Gaa>Aaa	p.E250K	C8orf34_ENST00000348340.2_Missense_Mutation_p.E275K|C8orf34_ENST00000539993.1_Missense_Mutation_p.E275K|C8orf34_ENST00000518698.1_Missense_Mutation_p.E361K			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	275					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)			TATTGATAATGAAGATGATGC	0.348000													21	49					0	0	0.000586117	0	0
HCK	3055	broad.mit.edu	37	20	30672208	30672208	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr20:30672208C>T	ENST00000534862.1	+	9	1000	c.637C>T	c.(637-639)Ctc>Ttc	p.L213F	HCK_ENST00000520553.1_Missense_Mutation_p.L212F|HCK_ENST00000518730.1_Missense_Mutation_p.L211F|HCK_ENST00000375852.2_Missense_Mutation_p.L233F|HCK_ENST00000375862.2_Missense_Mutation_p.L232F|HCK_ENST00000538448.1_Missense_Mutation_p.L212F	NM_001172132.1	NP_001165603.1	P08631	HCK_HUMAN	hemopoietic cell kinase	233	SH2.				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GAACGACGGGCTCTGCCAGAA	0.597000													6	8					0	0	0.000274275	0	0
LPAR4	2846	broad.mit.edu	37	X	78010772	78010772	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chrX:78010772C>T	ENST00000435339.2	+	2	811	c.406C>T	c.(406-408)Cgt>Tgt	p.R136C	LPAR4_ENST00000373301.2_Missense_Mutation_p.R136C	NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	136						integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						TAGTGTGGATCGTTTCCTGGC	0.483000													30	32					0	0	0.000814825	0	0
PEAK1	79834	broad.mit.edu	37	15	77450995	77450995	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr15:77450995G>A	ENST00000560626.2	-	5	3656	c.3181C>T	c.(3181-3183)Cca>Tca	p.P1061S	PEAK1_ENST00000312493.4_Missense_Mutation_p.P1061S			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	1061					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										ACAGTTCTTGGATCCCGAGGA	0.443000													7	38					0	0	0.000274275	0	0
ABRA	137735	broad.mit.edu	37	8	107782322	107782322	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr8:107782322A>T	ENST00000311955.3	-	1	151	c.97T>A	c.(97-99)Tgg>Agg	p.W33R		NM_139166.4	NP_631905.1	Q8N0Z2	ABRA_HUMAN	actin-binding Rho activating protein	33					positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding			breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			CACTGCTGCCAACCTCGGGCC	0.637000													13	33					0	0	0.00185496	0	0
KLK15	55554	broad.mit.edu	37	19	51331043	51331043	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr19:51331043T>A	ENST00000326856.4	-	3	198	c.69A>T	c.(67-69)gaA>gaT	p.E23D	KLK15_ENST00000416184.1_Missense_Mutation_p.E24D|KLK15_ENST00000598239.1_Missense_Mutation_p.E24D|KLK15_ENST00000301421.2_Missense_Mutation_p.E24D|KLK15_ENST00000596931.1_Missense_Mutation_p.E23D	NM_001277081.1	NP_001264010.1	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15	24	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		ACTCGTCACCTTCCAGCAACT	0.582000													13	23					0	0	0.000958276	0	0
AOX1	316	broad.mit.edu	37	2	201534342	201534342	+	Silent	SNP	C	C	T	rs150685936	by1000genomes	TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr2:201534342C>T	ENST00000374700.2	+	34	4084	c.3843C>T	c.(3841-3843)ttC>ttT	p.F1281F	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN	aldehyde oxidase 1	1281					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	CCGTGTTTTTCGCTATCCATG	0.522000													55	47					0	0	0.000781405	0	0
OR4C11	219429	broad.mit.edu	37	11	55371012	55371012	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr11:55371012G>A	ENST00000302231.4	-	1	862	c.838C>T	c.(838-840)Ctc>Ttc	p.L280F		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	280					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						AGTGGATTGAGAAAGGGTGTT	0.393000													15	32					0	0	0.000422831	0	0
MYH4	4622	broad.mit.edu	37	17	10348571	10348571	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr17:10348571T>C	ENST00000255381.2	-	36	5388	c.5278A>G	c.(5278-5280)Aag>Gag	p.K1760E	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1760					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						ATGGCCTTCTTGGCCTTCTCC	0.448000													30	74					0	0	0.000409698	0	0
CDC37	11140	broad.mit.edu	37	19	10502343	10502343	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr19:10502343G>A	ENST00000222005.2	-	8	1074	c.1021C>T	c.(1021-1023)Ctc>Ttc	p.L341F		NM_007065.3	NP_008996.1	Q16543	CDC37_HUMAN	cell division cycle 37	341					protein targeting|regulation of cyclin-dependent protein kinase activity|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway		unfolded protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	16			OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)		GGGACCCAGAGGCCAGAGTCA	0.632000											OREG0025234	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	34					0	0	0.000219431	0	0
ABCC11	85320	broad.mit.edu	37	16	48244970	48244970	+	Silent	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr16:48244970C>T	ENST00000394747.1	-	10	1846	c.1497G>A	c.(1495-1497)agG>agA	p.R499R	ABCC11_ENST00000394748.1_Silent_p.R499R|ABCC11_ENST00000356608.2_Silent_p.R499R|ABCC11_ENST00000353782.5_Silent_p.R499R|ABCC11_ENST00000537808.1_Silent_p.R499R	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	499						integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				CATGCCCGTTCCTCTCCAGCT	0.587000													16	25					0	0	0.00074312	0	0
SKIL	6498	broad.mit.edu	37	3	170108124	170108124	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr3:170108124C>T	ENST00000458537.3	+	4	2252	c.1543C>T	c.(1543-1545)Ccg>Tcg	p.P515S	SKIL_ENST00000426052.2_Missense_Mutation_p.P495S|SKIL_ENST00000259119.4_Missense_Mutation_p.P515S|SKIL_ENST00000413427.2_Missense_Mutation_p.P469S	NM_001145097.2|NM_001248008.1|NM_005414.4	NP_001138569.1|NP_001234937.1|NP_005405.2	P12757	SKIL_HUMAN	SKI-like oncogene	515					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)			CGCTTCATCTCCGCTTCTTGT	0.363000													18	74					0	0	0.00152264	0	0
GLB1L2	89944	broad.mit.edu	37	11	134238634	134238634	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr11:134238634C>T	ENST00000535456.2	+	10	1174	c.986C>T	c.(985-987)gCc>gTc	p.A329V	GLB1L2_ENST00000389881.3_Missense_Mutation_p.A329V|GLB1L2_ENST00000339772.7_Missense_Mutation_p.A329V|GLB1L2_ENST00000529077.1_3'UTR	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2	329					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		ATGAATGGAGCCATGCACTTC	0.532000													8	16					0	0	0.000274275	0	0
OR51A4	401666	broad.mit.edu	37	11	4967799	4967799	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr11:4967799G>A	ENST00000380373.2	-	1	557	c.532C>T	c.(532-534)Cat>Tat	p.H178Y	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	178					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAGTAGGAATGGGATAATTGG	0.408000													28	98					0	0	0.000409698	0	0
EGF	1950	broad.mit.edu	37	4	110866282	110866282	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr4:110866282G>C	ENST00000265171.5	+	5	1236	c.791G>C	c.(790-792)tGg>tCg	p.W264S	EGF_ENST00000509793.1_Missense_Mutation_p.W264S|EGF_ENST00000503392.1_Missense_Mutation_p.W264S	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	264					angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	TATTCAACATGGAAAATGAAG	0.358000													8	40					0	0	0.000157383	0	0
CXCR6	10663	broad.mit.edu	37	3	45988747	45988747	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr3:45988747G>A	ENST00000458629.1	+	1	2237	c.774G>A	c.(772-774)tgG>tgA	p.W258*	FYCO1_ENST00000535325.1_Intron|FYCO1_ENST00000296137.2_Intron|CXCR6_ENST00000304552.4_Nonsense_Mutation_p.W258*|FYCO1_ENST00000438446.1_Intron|CXCR6_ENST00000457814.1_Nonsense_Mutation_p.W258*|CXCR6_ENST00000438735.1_Nonsense_Mutation_p.W258*			O00574	CXCR6_HUMAN	chemokine (C-X-C motif) receptor 6	258					viral genome replication	integral to plasma membrane	coreceptor activity			central_nervous_system(1)|endometrium(1)|kidney(3)|lung(1)|prostate(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		GCACACACTGGGAATACTATG	0.507000													12	10					0	0	0.000219431	0	0
SLC22A10	387775	broad.mit.edu	37	11	63066392	63066392	+	Splice_Site	SNP	G	G	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr11:63066392G>T	ENST00000544661.1	+	6	794	c.365_splice	c.e6-1	p.R122_splice	SLC22A10_ENST00000525620.1_3'UTR|SLC22A10_ENST00000526800.1_Splice_Site_p.R117_splice|SLC22A10_ENST00000535888.1_Splice_Site_p.R67_splice|SLC22A10_ENST00000332793.6_Splice_Site_p.R277_splice			Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	277						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CTTGTATCAGGTGGCTGGTGG	0.383000													18	53					3.41278e-10	2.53328e-09	0.000566183	1	0
ACSM2A	123876	broad.mit.edu	37	16	20471479	20471479	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr16:20471479G>A	ENST00000573854.1	+	2	157	c.43G>A	c.(43-45)Ggt>Agt	p.G15S	ACSM2A_ENST00000424070.1_Missense_Mutation_p.G15S|ACSM2A_ENST00000417235.2_Intron|ACSM2A_ENST00000536134.1_5'UTR|ACSM2A_ENST00000575690.1_Missense_Mutation_p.G15S|ACSM2A_ENST00000219054.6_Missense_Mutation_p.G15S|ACSM2A_ENST00000575558.1_Intron|ACSM2A_ENST00000396104.2_Missense_Mutation_p.G15S	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	15					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						CACCCTGTGGGGTACTCAGAT	0.498000													16	27					0	0	0.00074312	0	0
ZKSCAN2	342357	broad.mit.edu	37	16	25251385	25251385	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr16:25251385G>A	ENST00000328086.7	-	7	3459	c.2656C>T	c.(2656-2658)Ccc>Tcc	p.P886S		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	886					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		CATTTGTAGGGATTCTCCCCA	0.483000													17	33					0	0	0.000958276	0	0
SNHG14	104472715	broad.mit.edu	37	15	25330440	25330440	+	RNA	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr15:25330440C>T	ENST00000546682.1	+	0	424				SNHG14_ENST00000553108.1_RNA|SNHG14_ENST00000549804.2_RNA	NR_003361.1																						GGCATGGGCTCCTTCAGGTGC	0.522000													6	9					0	0	0.00116845	0	0
CDH4	1002	broad.mit.edu	37	20	60448860	60448860	+	Silent	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr20:60448860C>T	ENST00000360469.5	+	7	1042	c.954C>T	c.(952-954)atC>atT	p.I318I	CDH4_ENST00000543233.1_Silent_p.I244I	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	318	Cadherin 2.				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)			GGTACCGGATCGTGACCCAGA	0.607000													7	19					0	0	8.12818e-05	0	0
SLA	6503	broad.mit.edu	37	8	134050772	134050772	+	Silent	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr8:134050772G>A	ENST00000338087.5	-	9	1647	c.828C>T	c.(826-828)gaC>gaT	p.D276D	SLA_ENST00000395352.3_Silent_p.D293D|SLA_ENST00000524345.1_Silent_p.D168D|TG_ENST00000542445.1_Intron|SLA_ENST00000517648.1_Silent_p.D249D|TG_ENST00000519543.1_Intron|TG_ENST00000377869.1_Intron|TG_ENST00000220616.4_Intron|SLA_ENST00000427060.2_Silent_p.D316D	NM_001045556.2	NP_001039021.1	Q13239	SLAP1_HUMAN	Src-like-adaptor	276	SLA C-terminal.					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)			TTCTTGGCTAGTCCTCAAAGT	0.473000													26	64					0	0	0.000878237	0	0
TRIM51	84767	broad.mit.edu	37	11	55655644	55655644	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr11:55655644G>A	ENST00000449290.2	+	4	736	c.644G>A	c.(643-645)aGc>aAc	p.S215N	TRIM51_ENST00000244891.3_Missense_Mutation_p.S72N	NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN	tripartite motif-containing 51	215						intracellular	zinc ion binding										CTCAATGAAAGCAAAGCCAGA	0.448000													11	29					0	0	0.00185496	0	0
DBR1	51163	broad.mit.edu	37	3	137880874	137880874	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr3:137880874C>T	ENST00000260803.4	-	8	1645	c.1492G>A	c.(1492-1494)Gag>Aag	p.E498K	DBR1_ENST00000505015.2_Missense_Mutation_p.E264K	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	498						nucleus	metal ion binding|RNA lariat debranching enzyme activity			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						TTCCCTGACTCCACAGTCCCA	0.448000													134	409					0	0	0.000781405	0	0
ZNF582	147948	broad.mit.edu	37	19	56896388	56896388	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr19:56896388C>T	ENST00000301310.4	-	5	556	c.398G>A	c.(397-399)gGa>gAa	p.G133E	ZNF582_ENST00000586929.1_Missense_Mutation_p.G133E	NM_144690.1	NP_653291.1	Q96NG8	ZN582_HUMAN	zinc finger protein 582	133					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G133E(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		GTCTGGATTTCCCTGTTGTCT	0.403000													39	92					0	0	0.00170553	0	0
PIWIL2	55124	broad.mit.edu	37	8	22175704	22175704	+	Silent	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr8:22175704C>T	ENST00000356766.6	+	20	2467	c.2319C>T	c.(2317-2319)tcC>tcT	p.S773S	PIWIL2_ENST00000521356.1_Silent_p.S773S|PIWIL2_ENST00000454009.2_Silent_p.S773S	NM_018068.3	NP_060538.2	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	773	Piwi.				DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		AATGGTATTCCCGGGTGGTGT	0.498000													51	87					0	0	0.000781405	0	0
DMBT1	1755	broad.mit.edu	37	10	124380872	124380872	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr10:124380872G>A	ENST00000338354.3	+	41	5303	c.5197G>A	c.(5197-5199)Gaa>Aaa	p.E1733K	DMBT1_ENST00000330163.4_Missense_Mutation_p.E1105K|DMBT1_ENST00000368955.3_Missense_Mutation_p.E1723K|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000344338.3_Missense_Mutation_p.E1723K|DMBT1_ENST00000368909.3_Missense_Mutation_p.E1733K|DMBT1_ENST00000368956.2_Missense_Mutation_p.E1105K			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1733	SRCR 13.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	p.E1733K(1)|p.E1862K(1)		breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TGGCCATCACGAAGACGCTGG	0.557000													9	16					0	0	0.000274275	0	0
UNC13C	440279	broad.mit.edu	37	15	54556488	54556488	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr15:54556488G>A	ENST00000545554.1	+	8	3571	c.3571G>A	c.(3571-3573)Gaa>Aaa	p.E1191K	UNC13C_ENST00000537900.1_Missense_Mutation_p.E1189K|UNC13C_ENST00000260323.11_Missense_Mutation_p.E1191K			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1191					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AGTAATCCAGGAAATGTTTCA	0.398000													10	5					0	0	0.000442599	0	0
SATL1	340562	broad.mit.edu	37	X	84362764	84362764	+	Missense_Mutation	SNP	G	G	A	rs150924046		TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chrX:84362764G>A	ENST00000509231.1	-	1	1290	c.1211C>T	c.(1210-1212)tCa>tTa	p.S404L	SATL1_ENST00000332921.5_Missense_Mutation_p.S217L|SATL1_ENST00000395409.3_Missense_Mutation_p.S217L			Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1	217	N-acetyltransferase.						N-acetyltransferase activity			NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						GCTTGTGCCTGATTGGCTGGT	0.532000													20	14					0	0	0.00121646	0	0
A2M	2	broad.mit.edu	37	12	9262530	9262530	+	Silent	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr12:9262530G>A	ENST00000318602.7	-	6	913	c.606C>T	c.(604-606)tcC>tcT	p.S202S		NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN	alpha-2-macroglobulin	202					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)	CCACCTTGTAGGAGCCCTGGA	0.473000													41	77					0	0	0.00148497	0	0
TROAP	10024	broad.mit.edu	37	12	49723209	49723209	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr12:49723209C>T	ENST00000551245.1	+	11	1247	c.1136C>T	c.(1135-1137)tCc>tTc	p.S379F	TROAP_ENST00000257909.3_Missense_Mutation_p.S379F|TROAP_ENST00000547923.1_Missense_Mutation_p.S87F			Q12815	TROAP_HUMAN	trophinin associated protein	379					cell adhesion	cytoplasm				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						TCCCCTCAGTCCTGCTCTGAA	0.602000													7	20					0	0	0.000673444	0	0
AP1G1	164	broad.mit.edu	37	16	71792781	71792781	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr16:71792781G>A	ENST00000299980.4	-	11	1459	c.1018C>T	c.(1018-1020)Cat>Tat	p.H340Y	AP1G1_ENST00000393512.3_Missense_Mutation_p.H343Y|AP1G1_ENST00000423132.2_Missense_Mutation_p.H343Y|AP1G1_ENST00000569748.1_Missense_Mutation_p.H340Y|AP1G1_ENST00000433195.2_Missense_Mutation_p.H363Y	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1 subunit	340					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome	kinesin binding|protein transporter activity			breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				ACTGCATTATGATCTGTCTGT	0.368000													8	29					0	0	0.000274275	0	0
DFNB31	25861	broad.mit.edu	37	9	117185660	117185660	+	Silent	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr9:117185660G>A	ENST00000362057.3	-	7	1728	c.1560C>T	c.(1558-1560)gtC>gtT	p.V520V	DFNB31_ENST00000265134.6_Silent_p.V137V|DFNB31_ENST00000374059.3_Silent_p.V169V	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219.3	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	520					inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CACTGTAGGAGACCATGGAGT	0.632000													19	15					0	0	0.00188189	0	0
SMG1	23049	broad.mit.edu	37	16	18839436	18839436	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr16:18839436G>C	ENST00000446231.2	-	55	10070	c.9658C>G	c.(9658-9660)Ccc>Gcc	p.P3220A	SMG1_ENST00000389467.3_Missense_Mutation_p.P3221A			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	3220					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						GACCGTGGGGGAGGTGTGACT	0.428000													6	18					0	0	8.12818e-05	0	0
C1orf168	199920	broad.mit.edu	37	1	57209867	57209867	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr1:57209867G>A	ENST00000343433.6	-	10	1540	c.1460C>T	c.(1459-1461)tCg>tTg	p.S487L	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	487										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						TATCTCCTCCGAGATGGAACT	0.418000													29	70					0	0	0.000491102	0	0
SNPH	9751	broad.mit.edu	37	20	1285660	1285660	+	Silent	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr20:1285660C>T	ENST00000381867.1	+	7	1221	c.579C>T	c.(577-579)atC>atT	p.I193I	SNPH_ENST00000381873.3_Silent_p.I149I			O15079	SNPH_HUMAN	syntaphilin	149					synaptic vesicle docking involved in exocytosis	cell junction|integral to membrane|synapse|synaptosome	syntaxin-1 binding	p.I149I(1)|p.I193I(1)		endometrium(2)|large_intestine(4)|lung(10)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						AGCAGGTCATCGACACTGTCA	0.562000													24	51					0	0	0.000878237	0	0
SMAP2	64744	broad.mit.edu	37	1	40882506	40882506	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr1:40882506C>T	ENST00000539317.1	+	9	855	c.662C>T	c.(661-663)cCc>cTc	p.P221L		NM_001198980.1	NP_001185909.1	Q8WU79	SMAP2_HUMAN	small ArfGAP2	301	Interaction with clathrin heavy chains (By similarity).				regulation of ARF GTPase activity	cytoplasm|nucleus	ARF GTPase activator activity|zinc ion binding			central_nervous_system(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24	Lung NSC(20;1.56e-05)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.04e-17)			CCCAGCTTCCCCGGGGTTACA	0.542000													12	18					0	0	0.000978159	0	0
NTNG1	22854	broad.mit.edu	37	1	107973430	107973430	+	Silent	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr1:107973430C>T	ENST00000370068.1	+	6	1992	c.1146C>T	c.(1144-1146)gtC>gtT	p.V382V	NTNG1_ENST00000370061.3_Intron|NTNG1_ENST00000370071.2_Intron|NTNG1_ENST00000370067.1_Intron|NTNG1_ENST00000370073.2_Silent_p.V382V|NTNG1_ENST00000370070.2_Intron|NTNG1_ENST00000542803.1_Silent_p.V382V|NTNG1_ENST00000370074.4_Intron|NTNG1_ENST00000370066.1_Intron|NTNG1_ENST00000370072.3_Silent_p.V382V|NTNG1_ENST00000370065.1_Silent_p.V382V			Q9Y2I2	NTNG1_HUMAN	netrin G1	382	Laminin EGF-like 2.				axonogenesis	anchored to plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		TAAATACAGTCATTTGCGTGA	0.438000													4	13					0	0	0.00024832	0	0
NAP1L2	4674	broad.mit.edu	37	X	72433893	72433893	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chrX:72433893G>A	ENST00000373517.3	-	1	791	c.436C>T	c.(436-438)Ccc>Tcc	p.P146S	NAP1L2_ENST00000536638.1_Missense_Mutation_p.P4S	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	146					nucleosome assembly	chromatin assembly complex				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					TCCAGTAAGGGTTGGTACATT	0.383000													41	24					0	0	0.00170553	0	0
PRKAA2	5563	broad.mit.edu	37	1	57169700	57169700	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr1:57169700C>T	ENST00000371244.4	+	7	911	c.845C>T	c.(844-846)tCc>tTc	p.S282F		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	282					carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						GAAGACCCTTCCTATGATGCT	0.363000													44	86					0	0	0.000781405	0	0
GABRG1	2565	broad.mit.edu	37	4	46060312	46060312	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr4:46060312G>A	ENST00000295452.4	-	7	1005	c.838C>T	c.(838-840)Cca>Tca	p.P280S		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	280					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		AGAATGCATGGAATGTAGGTC	0.348000													33	44					0	0	0.000692331	0	0
CCNB3	85417	broad.mit.edu	37	X	50053944	50053944	+	Silent	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chrX:50053944C>T	ENST00000376042.1	+	6	3073	c.2775C>T	c.(2773-2775)gtC>gtT	p.V925V	CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Silent_p.V925V|CCNB3_ENST00000376038.1_Intron			Q8WWL7	CCNB3_HUMAN	cyclin B3	925					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)					ATGAGGCAGTCCTCTTCGAAG	0.468000													34	13					0	0	0.000814825	0	0
IGHA2	3494	broad.mit.edu	37	14	106053566	106053566	+	RNA	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr14:106053566G>A	ENST00000390539.2	-	0	730																											CACATCCTTGGGGCTGAAGCC	0.682000													8	26					0	0	0.000274275	0	0
C9orf152	401546	broad.mit.edu	37	9	112963392	112963392	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr9:112963392G>A	ENST00000400613.4	-	2	1165	c.556C>T	c.(556-558)Caa>Taa	p.Q186*	C9orf152_ENST00000473442.1_Intron	NM_001012993.2	NP_001013011.2	Q5JTZ5	CI152_HUMAN	chromosome 9 open reading frame 152	186										NS(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						GCCTTTGTTTGGGTATTGCCC	0.483000													19	25					0	0	0.000958276	0	0
NRXN1	9378	broad.mit.edu	37	2	51254771	51254771	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr2:51254771C>T	ENST00000404971.1	-	2	1980	c.641G>A	c.(640-642)gGa>gAa	p.G214E	NRXN1_ENST00000406859.3_Missense_Mutation_p.G214E|NRXN1_ENST00000405581.1_Missense_Mutation_p.G214E|NRXN1_ENST00000405472.3_Missense_Mutation_p.G214E|NRXN1_ENST00000402717.3_Missense_Mutation_p.G214E|NRXN1_ENST00000401669.2_Missense_Mutation_p.G214E|NRXN1_ENST00000406316.2_Missense_Mutation_p.G214E	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	214	EGF-like 1.|Laminin G-like 1.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GCACGGGCTTCCCCCGCCGCT	0.697000													4	2					0	0	0.00024832	0	0
ADSSL1	122622	broad.mit.edu	37	14	105213306	105213306	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr14:105213306G>T	ENST00000332972.5	+	13	1628	c.1469G>T	c.(1468-1470)gGc>gTc	p.G490V	ADSSL1_ENST00000554657.1_3'UTR|ADSSL1_ENST00000330877.2_Missense_Mutation_p.G447V|ADSSL1_ENST00000556623.1_Missense_Mutation_p.G53V|ADSSL1_ENST00000555674.1_Missense_Mutation_p.G64V	NM_199165.1	NP_954634.1	Q8N142	PURA1_HUMAN	adenylosuccinate synthase like 1	447					AMP biosynthetic process|immune system process|purine base metabolic process	cytosol	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding			central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1)	11		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)	L-Aspartic Acid(DB00128)	GTTGGTGTTGGCAAGTCAAGA	0.463000													18	54					5.26018e-13	3.92186e-12	0.00188189	1	0
CPNE1	8904	broad.mit.edu	37	20	34219679	34219679	+	Silent	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr20:34219679G>A	ENST00000317619.3	-	9	952	c.558C>T	c.(556-558)aaC>aaT	p.N186N	CPNE1_ENST00000317677.5_Silent_p.N191N|CPNE1_ENST00000397445.1_Silent_p.N186N|CPNE1_ENST00000397442.1_Silent_p.N186N|CPNE1_ENST00000397443.1_Silent_p.N186N|CPNE1_ENST00000352393.4_Silent_p.N186N|CPNE1_ENST00000397446.1_Silent_p.N186N			Q99829	CPNE1_HUMAN	copine I	186	C2 2.				lipid metabolic process|vesicle-mediated transport		calcium-dependent phospholipid binding|phosphatidylserine binding|transporter activity			breast(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			TCCATGTAGGGTTCAGGTTGT	0.592000													12	36					0	0	0.000219431	0	0
FRY	10129	broad.mit.edu	37	13	32841395	32841395	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr13:32841395G>A	ENST00000380250.3	+	55	8531	c.8035G>A	c.(8035-8037)Gat>Aat	p.D2679N	FRY_ENST00000542859.1_Missense_Mutation_p.D49N	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2679					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		AGCCTGTGACGATGCCGAGGA	0.547000													35	44					0	0	0.000814825	0	0
FGF18	8817	broad.mit.edu	37	5	170883684	170883684	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr5:170883684G>A	ENST00000274625.5	+	5	1043	c.499G>A	c.(499-501)Gag>Aag	p.E167K		NM_003862.2	NP_003853.1	O76093	FGF18_HUMAN	fibroblast growth factor 18	167					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell proliferation	extracellular space|nucleolus	growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding			endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	9	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CAAGACCCGGGAGAACCAGCA	0.617000													15	46					0	0	0.000566183	0	0
USF1	7391	broad.mit.edu	37	1	161011452	161011452	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr1:161011452G>A	ENST00000368021.3	-	6	665	c.461C>T	c.(460-462)cCt>cTt	p.P154L	USF1_ENST00000435396.1_Missense_Mutation_p.P95L|USF1_ENST00000368020.1_Missense_Mutation_p.P154L|USF1_ENST00000368019.1_Intron	NM_007122.3	NP_009053.1	P22415	USF1_HUMAN	upstream transcription factor 1	154					cellular response to insulin stimulus|glucose homeostasis|late viral mRNA transcription|lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter by glucose|response to hypoxia|response to UV	transcription factor complex	bHLH transcription factor binding|histone deacetylase binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|large_intestine(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(52;6.73e-18)|Breast(13;0.012)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			AGTGCCAGGAGGGGTCGCCTG	0.587000											OREG0013936	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	20					0	0	0.000274275	0	0
KLHL32	114792	broad.mit.edu	37	6	97562123	97562123	+	Silent	SNP	T	T	G			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr6:97562123T>G	ENST00000369261.4	+	7	1455	c.1092T>G	c.(1090-1092)gcT>gcG	p.A364A	KLHL32_ENST00000539200.1_Silent_p.A295A|KLHL32_ENST00000536676.1_Silent_p.A328A|KLHL32_ENST00000544166.1_Intron	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN	kelch-like family member 32	364										breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		GGACGTGTGCTGTGAGGACTG	0.587000													7	22					0	0	8.12818e-05	0	0
FAM3D	131177	broad.mit.edu	37	3	58622930	58622930	+	Silent	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr3:58622930G>A	ENST00000358781.2	-	8	706	c.396C>T	c.(394-396)ttC>ttT	p.F132F		NM_138805.2	NP_620160.1	Q96BQ1	FAM3D_HUMAN	family with sequence similarity 3, member D	132					negative regulation of insulin secretion	extracellular region	cytokine activity			large_intestine(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(55;0.000225)|Kidney(10;0.000667)|KIRC - Kidney renal clear cell carcinoma(10;0.000802)|OV - Ovarian serous cystadenocarcinoma(275;0.169)		TTTCTTTAAGGAATTTCACTA	0.512000													5	6					0	0	0.000602214	0	0
HIVEP3	59269	broad.mit.edu	37	1	42050203	42050203	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr1:42050203G>A	ENST00000372584.1	-	3	1280	c.266C>T	c.(265-267)tCc>tTc	p.S89F	HIVEP3_ENST00000372583.1_Missense_Mutation_p.S89F|HIVEP3_ENST00000429157.2_Missense_Mutation_p.S89F|HIVEP3_ENST00000247584.5_Missense_Mutation_p.S89F	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	89					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GATGTGGACGGATGCTTCGAT	0.607000													37	103					0	0	0.000509022	0	0
C12orf66	144577	broad.mit.edu	37	12	64588117	64588117	+	Silent	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr12:64588117C>T	ENST00000311915.8	-	3	870	c.843G>A	c.(841-843)acG>acA	p.T281T	C12orf66_ENST00000544871.1_Silent_p.T228T|C12orf66_ENST00000398055.3_Silent_p.T281T			Q96MD2	CL066_HUMAN	chromosome 12 open reading frame 66	281										central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)	5						CTGAAGCAGTCGTTTGTCGGC	0.428000													27	55					0	0	0.00106085	0	0
ZCCHC2	54877	broad.mit.edu	37	18	60227843	60227843	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr18:60227843C>T	ENST00000269499.5	+	8	1934	c.1516C>T	c.(1516-1518)Cac>Tac	p.H506Y	ZCCHC2_ENST00000586834.1_Missense_Mutation_p.H185Y	NM_017742.4	NP_060212.4	Q9C0B9	ZCHC2_HUMAN	zinc finger, CCHC domain containing 2	506					cell communication	cytoplasm	nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						TGCCATAATCCACAAGAAGCA	0.338000													29	65					0	0	0.000692331	0	0
PARVG	64098	broad.mit.edu	37	22	44579263	44579263	+	Silent	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr22:44579263C>T	ENST00000422871.1	+	3	478	c.54C>T	c.(52-54)ccC>ccT	p.P18P	PARVG_ENST00000415224.1_Silent_p.P18P|PARVG_ENST00000466375.2_Silent_p.P18P|PARVG_ENST00000453888.3_3'UTR|PARVG_ENST00000444313.2_Silent_p.P18P	NM_001137605.1	NP_001131077.1	Q9HBI0	PARVG_HUMAN	parvin, gamma	18					cell-matrix adhesion	cytoplasm|cytoskeleton|focal adhesion	actin binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17		Ovarian(80;0.024)|all_neural(38;0.0299)				GGGTGGAGCCCCCAGCGGAGG	0.647000													5	9					0	0	0.000157383	0	0
SETD5	55209	broad.mit.edu	37	3	9486749	9486749	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr3:9486749G>T	ENST00000402466.1	+	13	1679	c.911G>T	c.(910-912)tGt>tTt	p.C304F	SETD5_ENST00000407969.1_Missense_Mutation_p.C421F|SETD5_ENST00000406341.1_Missense_Mutation_p.C402F|SETD5_ENST00000402198.1_Missense_Mutation_p.C402F|SETD5_ENST00000302463.6_Missense_Mutation_p.C304F			Q9C0A6	SETD5_HUMAN	SET domain containing 5	402	SET.									NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		AAAGTGGACTGTGCCTGTCAC	0.418000													36	26					7.53189e-24	5.64892e-23	0.00170553	1	0
ZNF568	374900	broad.mit.edu	37	19	37413675	37413675	+	Translation_Start_Site	SNP	G	G	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr19:37413675G>T	ENST00000333987.7	+	3	509	c.3G>T	c.(1-3)atG>atT	p.M1I	ZNF568_ENST00000415168.1_Intron|ZNF568_ENST00000455427.2_Intron|ZNF568_ENST00000427117.1_Start_Codon_SNP_p.M1I	NM_001204835.1|NM_198539.3	NP_001191764.1|NP_940941.2	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	1					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GGGTCTGAATGACATCTCAAT	0.527000													12	25					2.27111e-07	1.68089e-06	0.00136819	1	0
MAK	4117	broad.mit.edu	37	6	10764725	10764725	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr6:10764725C>T	ENST00000313243.2	-	14	2214	c.1832G>A	c.(1831-1833)gGg>gAg	p.G611E	MAK_ENST00000538030.1_3'UTR|MAK_ENST00000354489.2_Missense_Mutation_p.G611E|SYCP2L_ENST00000543878.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron|MAK_ENST00000474039.1_Missense_Mutation_p.G611E			P20794	MAK_HUMAN	male germ cell-associated kinase	611					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|cyclin-dependent protein kinase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)	22	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)				GTCTGTCCTCCCATGCACTGA	0.502000													13	24					0	0	0.00185496	0	0
OR5T1	390155	broad.mit.edu	37	11	56043514	56043514	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr11:56043514C>T	ENST00000313033.2	+	1	486	c.400C>T	c.(400-402)Cgc>Tgc	p.R134C		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	134					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R134S(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					GGCTTATGATCGCTATGTAGC	0.413000													61	115					0	0	0.000781405	0	0
UGGT2	55757	broad.mit.edu	37	13	96508564	96508564	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr13:96508564C>T	ENST00000376747.3	-	34	3926	c.3856G>A	c.(3856-3858)Gga>Aga	p.G1286R		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	1286	Glucosyltransferase.				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						TATCGGAATCCATACTCTTTA	0.348000													16	127					0	0	0.00121646	0	0
IGKV6-21	28906	broad.mit.edu	37	2	89459307	89459307	+	RNA	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr2:89459307G>A	ENST00000390256.2	-	0	333																											TGGTGAGGGTGAAATCTGTCC	0.478000													29	24					0	0	0.000339439	0	0
COL4A1	1282	broad.mit.edu	37	13	110828846	110828846	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr13:110828846G>A	ENST00000375820.4	-	36	3104	c.2983C>T	c.(2983-2985)Cca>Tca	p.P995S		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	995	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CTTATACCTGGATCACCTTTA	0.502000													10	24					0	0	0.00136819	0	0
CD163	9332	broad.mit.edu	37	12	7649645	7649645	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr12:7649645C>T	ENST00000359156.4	-	5	1065	c.863G>A	c.(862-864)gGg>gAg	p.G288E	CD163_ENST00000396620.3_Missense_Mutation_p.G288E|CD163_ENST00000432237.2_Missense_Mutation_p.G288E|CD163_ENST00000541972.1_Missense_Mutation_p.G276E	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	288	SRCR 3.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						ACATATTGTCCCCCATTCTCC	0.507000													24	42					0	0	0.000586117	0	0
PER2	8864	broad.mit.edu	37	2	239164311	239164311	+	Silent	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr2:239164311C>T	ENST00000254657.3	-	18	2586	c.2307G>A	c.(2305-2307)caG>caA	p.Q769Q	PER2_ENST00000254658.3_3'UTR	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	769	CSNK1E binding domain (By similarity).				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		GTTCACTTGGCTGCCCCTTGG	0.413000													31	40					0	0	0.00170553	0	0
BCAR1	9564	broad.mit.edu	37	16	75268999	75268999	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr16:75268999T>A	ENST00000546196.1	-	5	3363	c.1711A>T	c.(1711-1713)Aat>Tat	p.N571Y	BCAR1_ENST00000162330.5_Missense_Mutation_p.N600Y|BCAR1_ENST00000542031.2_Missense_Mutation_p.N598Y|BCAR1_ENST00000538440.2_Missense_Mutation_p.N600Y|BCAR1_ENST00000420641.3_Missense_Mutation_p.N618Y|BCAR1_ENST00000535626.2_Missense_Mutation_p.N452Y|BCAR1_ENST00000418647.3_Missense_Mutation_p.N646Y|BCAR1_ENST00000393420.6_Missense_Mutation_p.N618Y|BCAR1_ENST00000566982.1_5'UTR|BCAR1_ENST00000393422.2_Missense_Mutation_p.N618Y			P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	600	Ser-rich.				actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway	cytosol|focal adhesion|membrane fraction|ruffle	protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity			breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		AGTGAGGCATTGCCGTGCAGG	0.687000													12	30					0	0	0.00136819	0	0
DNAH5	1767	broad.mit.edu	37	5	13752396	13752396	+	Silent	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr5:13752396G>A	ENST00000265104.4	-	64	10979	c.10875C>T	c.(10873-10875)atC>atT	p.I3625I		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3625	AAA 5 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTAAAGACGTGATCTAGGAAC	0.423000									Kartagener syndrome				14	32					0	0	0.000219431	0	0
PCNX	22990	broad.mit.edu	37	14	71576565	71576565	+	Silent	SNP	C	C	T	rs142043783		TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr14:71576565C>T	ENST00000304743.2	+	36	7385	c.6939C>T	c.(6937-6939)atC>atT	p.I2313I	PCNX_ENST00000238570.5_Silent_p.I2241I|PCNX_ENST00000556272.1_3'UTR|PCNX_ENST00000439984.3_Silent_p.I2202I	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	2313						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		GATCCCACATCGACAAGGCAG	0.448000													19	44					0	0	0.000958276	0	0
GRM8	2918	broad.mit.edu	37	7	126173086	126173086	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr7:126173086C>T	ENST00000339582.2	-	9	3158	c.2350G>A	c.(2350-2352)Gga>Aga	p.G784R	GRM8_ENST00000444921.2_Missense_Mutation_p.G784R|GRM8_ENST00000358373.3_Missense_Mutation_p.G784R			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	784					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	ATGGTAAATCCAATAGGTTTG	0.408000										HNSCC(24;0.065)			7	31					0	0	8.12818e-05	0	0
ARHGAP12	94134	broad.mit.edu	37	10	32143124	32143124	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr10:32143124G>A	ENST00000375250.5	-	5	1200	c.959C>T	c.(958-960)tCg>tTg	p.S320L	ARHGAP12_ENST00000311380.4_Intron|ARHGAP12_ENST00000344936.2_Missense_Mutation_p.S320L|ARHGAP12_ENST00000375245.4_Intron|ARHGAP12_ENST00000396144.4_Missense_Mutation_p.S320L	NM_001270696.1	NP_001257625.1	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12	320					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				GTTTTCTTCCGATGAAAGAAG	0.353000													4	12					0	0	0.00024832	0	0
CEP350	9857	broad.mit.edu	37	1	179981138	179981138	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr1:179981138C>T	ENST00000367607.3	+	9	1739	c.1321C>T	c.(1321-1323)Ccc>Tcc	p.P441S		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	441						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						GGGACCTGCTCCCAGAATGGA	0.373000													5	11					0	0	0.000602214	0	0
SLC22A11	55867	broad.mit.edu	37	11	64323543	64323543	+	Silent	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr11:64323543C>T	ENST00000301891.4	+	1	446	c.72C>T	c.(70-72)ttC>ttT	p.F24F	SLC22A11_ENST00000377581.3_Silent_p.F24F|SLC22A11_ENST00000377585.3_Silent_p.F24F|SLC22A11_ENST00000490834.1_3'UTR	NM_018484.2	NP_060954.1	Q9NSA0	S22AB_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 11	24					urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Probenecid(DB01032)	TGCTCACCTTCATCCTCCCCT	0.607000											OREG0004031	type=REGULATORY REGION|Gene=SLC22A11|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	10	34					0	0	0.000442599	0	0
CHST4	10164	broad.mit.edu	37	16	71571468	71571468	+	Silent	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr16:71571468G>A	ENST00000338482.5	+	3	1231	c.888G>A	c.(886-888)ttG>ttA	p.L296L	RP11-510M2.9_ENST00000572693.1_RNA|ZNF19_ENST00000568446.1_Intron|CHST4_ENST00000572450.1_Silent_p.L296L|CHST4_ENST00000539698.3_Silent_p.L296L			Q8NCG5	CHST4_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4	296					cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						TCGTGGGATTGGAATTCTTGC	0.567000											OREG0023923	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	25					0	0	0.00121646	0	0
KIAA1045	23349	broad.mit.edu	37	9	34976667	34976667	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr9:34976667G>A	ENST00000242315.3	+	5	861	c.779G>A	c.(778-780)cGa>cAa	p.R260Q	KIAA1045_ENST00000544237.1_Missense_Mutation_p.R260Q|KIAA1045_ENST00000476115.2_3'UTR	NM_015297.1	NP_056112.1	Q9UPV7	K1045_HUMAN	KIAA1045	260							calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(32;0.00575)			CCTGAACATCGAGGCCACATA	0.632000													35	20					0	0	0.00128727	0	0
ARMC4	55130	broad.mit.edu	37	10	28151551	28151551	+	Splice_Site	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr10:28151551C>T	ENST00000305242.5	-	18	2703	c.2610_splice	c.e18-1	p.D871_splice	ARMC4_ENST00000545014.1_Splice_Site_p.D396_splice|ARMC4_ENST00000537576.1_Splice_Site_p.D563_splice	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	871							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TCCCCAGCATCCTAGACAAAA	0.358000													9	16					0	0	0.000442599	0	0
PGLYRP2	114770	broad.mit.edu	37	19	15586356	15586356	+	Silent	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr19:15586356G>A	ENST00000292609.4	-	2	1254	c.1125C>T	c.(1123-1125)gcC>gcT	p.A375A	PGLYRP2_ENST00000340880.4_Silent_p.A375A			Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	375					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						CACCCAGGAAGGCCTCAGTGA	0.557000													42	72					0	0	0.000781405	0	0
EVI5	7813	broad.mit.edu	37	1	93159390	93159390	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr1:93159390G>T	ENST00000370331.1	-	9	1207	c.1198C>A	c.(1198-1200)Caa>Aaa	p.Q400K	EVI5_ENST00000540033.1_Missense_Mutation_p.Q400K|EVI5_ENST00000543509.1_Missense_Mutation_p.Q400K	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5	400	Dimerization.|Interaction with alpha-tubulin, gamma- tubulin, BIRC5 and FBXO5.|Targeting to the centrosomes.				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	protein binding|Rab GTPase activator activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		TATTTGACTTGGTAAGCTGCT	0.303000													11	290					0.00010058	0.000742236	0.00136819	1	0
SIRPB1	10326	broad.mit.edu	37	20	1551747	1551747	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr20:1551747C>T	ENST00000381605.4	-	4	852	c.788G>A	c.(787-789)aGg>aAg	p.R263K	RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000262929.5_Intron	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	263	Ig-like C1-type 2.				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding	p.R263K(1)		central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						GTTCTCTGCCCTCATGGGCTG	0.542000													15	18					0	0	0.00121646	0	0
GK2	2712	broad.mit.edu	37	4	80328264	80328264	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr4:80328264A>T	ENST00000358842.3	-	1	1108	c.1091T>A	c.(1090-1092)tTt>tAt	p.F364Y		NM_033214.2	NP_149991.2	Q14410	GLPK2_HUMAN	glycerol kinase 2	364					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						TAACCCTGAAAAGGCTGGGAC	0.418000													36	42					0	0	0.00195071	0	0
PKP3	11187	broad.mit.edu	37	11	399048	399048	+	Silent	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr11:399048G>A	ENST00000331563.2	+	5	1201	c.1125G>A	c.(1123-1125)caG>caA	p.Q375Q		NM_007183.2	NP_009114.1	Q9Y446	PKP3_HUMAN	plakophilin 3	375					cell adhesion	desmosome|nucleus	binding			breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACGCCAACCAGGAAGTGCAGC	0.622000													14	29					0	0	0.00074312	0	0
DPH1	1801	broad.mit.edu	37	17	1939915	1939915	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr17:1939915C>T	ENST00000263083.6	+	5	553	c.508C>T	c.(508-510)Ctc>Ttc	p.L170F	DPH1_ENST00000576891.2_3'UTR|DPH1_ENST00000570477.1_Missense_Mutation_p.L90F	NM_001383.3	NP_001374.3	Q9BZG8	DPH1_HUMAN	diphthamide biosynthesis 1	170					peptidyl-diphthamide biosynthetic process from peptidyl-histidine|translation	cytoplasm|nucleus				endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	17						CTCTCTCCGCCTCACCTTTCC	0.602000													10	21					0	0	0.000673444	0	0
HTR5A	3361	broad.mit.edu	37	7	154862641	154862641	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr7:154862641C>T	ENST00000287907.2	+	1	608	c.32C>T	c.(31-33)tCc>tTc	p.S11F	AC093726.4_ENST00000493904.1_Intron|AC093726.4_ENST00000395731.2_Intron|AC093726.4_ENST00000543018.1_Intron	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	11						integral to plasma membrane	serotonin receptor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		ACCTCCTTTTCCCTCTCCACC	0.597000													22	47					0	0	0.000720815	0	0
SORL1	6653	broad.mit.edu	37	11	121429474	121429474	+	Silent	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr11:121429474C>T	ENST00000260197.7	+	20	2967	c.2838C>T	c.(2836-2838)atC>atT	p.I946I		NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	946					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TAGAGCGGATCACGTTCAGTG	0.547000													18	15					0	0	0.000958276	0	0
ZNF582	147948	broad.mit.edu	37	19	56896389	56896389	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr19:56896389C>T	ENST00000301310.4	-	5	555	c.397G>A	c.(397-399)Gga>Aga	p.G133R	ZNF582_ENST00000586929.1_Missense_Mutation_p.G133R	NM_144690.1	NP_653291.1	Q96NG8	ZN582_HUMAN	zinc finger protein 582	133					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		TCTGGATTTCCCTGTTGTCTG	0.403000													39	89					0	0	0.00195071	0	0
RGAG1	57529	broad.mit.edu	37	X	109693908	109693908	+	Silent	SNP	C	C	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chrX:109693908C>A	ENST00000465301.2	+	3	309	c.63C>A	c.(61-63)ccC>ccA	p.P21P	RGAG1_ENST00000540313.1_Silent_p.P21P	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	21										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						ATGTTGAGCCCCAAAACAAGC	0.468000											OREG0019909	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	66					0.00116845	0.00851079	0.00116845	1	0
JAGN1	84522	broad.mit.edu	37	3	9934787	9934787	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr3:9934787C>T	ENST00000307768.4	+	2	447	c.278C>T	c.(277-279)cCc>cTc	p.P93L		NM_032492.3	NP_115881.3	Q8N5M9	JAGN1_HUMAN	jagunal homolog 1 (Drosophila)	93						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|lung(3)|ovary(1)	10	Medulloblastoma(99;0.227)					CTCTCCTTTCCCCGCAACAAC	0.517000													15	11					0	0	0.000308642	0	0
VPS39	23339	broad.mit.edu	37	15	42452984	42452984	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr15:42452984A>C	ENST00000318006.5	-	25	2758	c.2596T>G	c.(2596-2598)Tgt>Ggt	p.C866G	VPS39_ENST00000348544.4_Missense_Mutation_p.C877G	NM_015289.2	NP_056104.2	Q96JC1	VPS39_HUMAN	vacuolar protein sorting 39 homolog (S. cerevisiae)	877					protein transport	HOPS complex|late endosome membrane|lysosomal membrane	small GTPase regulator activity			breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		TCTTTGGAACAGAAGTAATGG	0.537000													19	43					0	0	0.000375601	0	0
TTN	7273	broad.mit.edu	37	2	179425950	179425950	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr2:179425950A>T	ENST00000589042.1	-	326	85133	c.84909T>A	c.(84907-84909)aaT>aaA	p.N28303K	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.N25735K|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.N19363K|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.N19238K|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.N26662K|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.N19430K|TTN-AS1_ENST00000590932.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	26662	Fibronectin type-III 106.						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)			TATTAGTATAATTGCACTTCA	0.398000													27	22					0	0	0.000586117	0	0
MUC16	94025	broad.mit.edu	37	19	9058358	9058358	+	Silent	SNP	T	T	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr19:9058358T>A	ENST00000397910.4	-	3	29291	c.29088A>T	c.(29086-29088)ggA>ggT	p.G9696G		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9698	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						AGTGTGAAAGTCCTTGAGACA	0.493000													14	24					0	0	0.000566183	0	0
HECW1	23072	broad.mit.edu	37	7	43496010	43496010	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr7:43496010C>T	ENST00000395891.1	+	13	3220	c.2615C>T	c.(2614-2616)tCg>tTg	p.S872L	HECW1_ENST00000453890.1_Missense_Mutation_p.S838L	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	872					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						ATGCGGAGATCGGGGTCCATC	0.582000													5	25					0	0	0.00116845	0	0
P2RY10	27334	broad.mit.edu	37	X	78216689	78216689	+	Silent	SNP	C	C	G			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chrX:78216689C>G	ENST00000171757.2	+	4	952	c.672C>G	c.(670-672)tcC>tcG	p.S224S	P2RY10_ENST00000544091.1_Silent_p.S224S	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	224						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						CTACTATATCCTTGAGACAGC	0.488000													23	10					0	0	0.00047179	0	0
MYO15A	51168	broad.mit.edu	37	17	18023638	18023638	+	Silent	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr17:18023638G>A	ENST00000205890.5	+	2	1862	c.1524G>A	c.(1522-1524)ggG>ggA	p.G508G		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	508	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)					TCCCCTTGGGGGATGCGGACG	0.657000													12	22					0	0	0.00185496	0	0
VNN3	55350	broad.mit.edu	37	6	133046062	133046062	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr6:133046062C>T	ENST00000207771.3	-	6	955	c.883G>A	c.(883-885)Gag>Aag	p.E295K	VNN3_ENST00000519686.2_3'UTR|VNN3_ENST00000392393.3_3'UTR|VNN3_ENST00000275223.3_3'UTR|VNN3_ENST00000450865.2_3'UTR|VNN3_ENST00000427187.2_Silent_p.Q198Q|VNN3_ENST00000425515.2_3'UTR|VNN3_ENST00000367927.5_3'UTR|VNN3_ENST00000414302.2_3'UTR|VNN3_ENST00000417437.2_3'UTR|VNN3_ENST00000423615.2_3'UTR|VNN3_ENST00000509351.1_3'UTR					vanin 3											cervix(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	8	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00242)|GBM - Glioblastoma multiforme(226;0.0168)		TGACCACTCTCTGTTTCCATG	0.498000													19	34					0	0	0.00121646	0	0
GABRA6	2559	broad.mit.edu	37	5	161116153	161116153	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr5:161116153G>A	ENST00000523217.1	+	4	636	c.394G>A	c.(394-396)Gga>Aga	p.G132R	GABRA6_ENST00000274545.5_Missense_Mutation_p.G142R|RP11-348M17.2_ENST00000521984.1_RNA	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	142					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	AATGCAGAATGGAACCATTTT	0.373000										TCGA Ovarian(5;0.080)			9	29					0	0	0.000442599	0	0
CNTN5	53942	broad.mit.edu	37	11	100061937	100061937	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr11:100061937G>A	ENST00000524871.1	+	14	1950	c.1660G>A	c.(1660-1662)Gaa>Aaa	p.E554K	CNTN5_ENST00000418526.2_Missense_Mutation_p.E480K|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000527185.1_Missense_Mutation_p.E554K|CNTN5_ENST00000528682.1_Missense_Mutation_p.E554K|CNTN5_ENST00000279463.3_Missense_Mutation_p.E554K	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	554	Ig-like C2-type 5.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TTGCCGAGGGGAAAACGTCTT	0.408000													12	56					0	0	0.000978159	0	0
SI	6476	broad.mit.edu	37	3	164786982	164786982	+	Splice_Site	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr3:164786982C>T	ENST00000264382.3	-	4	319	c.255_splice	c.e4-1	p.G86_splice		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	86	P-type 1.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TGCACAAATTCCCTGATAAAA	0.348000										HNSCC(35;0.089)			11	32					0	0	0.000308642	0	0
CPNE1	8904	broad.mit.edu	37	20	34219678	34219678	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr20:34219678G>A	ENST00000317619.3	-	9	953	c.559C>T	c.(559-561)Cct>Tct	p.P187S	CPNE1_ENST00000317677.5_Missense_Mutation_p.P192S|CPNE1_ENST00000397445.1_Missense_Mutation_p.P187S|CPNE1_ENST00000397442.1_Missense_Mutation_p.P187S|CPNE1_ENST00000397443.1_Missense_Mutation_p.P187S|CPNE1_ENST00000352393.4_Missense_Mutation_p.P187S|CPNE1_ENST00000397446.1_Missense_Mutation_p.P187S			Q99829	CPNE1_HUMAN	copine I	187	C2 2.				lipid metabolic process|vesicle-mediated transport		calcium-dependent phospholipid binding|phosphatidylserine binding|transporter activity			breast(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			TTCCATGTAGGGTTCAGGTTG	0.587000													12	35					0	0	0.000219431	0	0
RBM12	10137	broad.mit.edu	37	20	34241734	34241734	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr20:34241734G>T	ENST00000374114.3	-	3	1774	c.1511C>A	c.(1510-1512)cCa>cAa	p.P504Q	RBM12_ENST00000359646.1_Missense_Mutation_p.P504Q|CPNE1_ENST00000397445.1_Intron|CPNE1_ENST00000397442.1_Intron|RBM12_ENST00000374104.3_Missense_Mutation_p.P504Q|CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000352393.4_Intron|CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000317619.3_Intron	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	504	RRM 2.					nucleus	nucleotide binding|protein binding|RNA binding			breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			CTTAGTAATTGGATGAACTTG	0.408000													7	146					0.000274275	0.00202108	0.000274275	1	0
MYO7A	4647	broad.mit.edu	37	11	76877112	76877112	+	Silent	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr11:76877112G>A	ENST00000409709.3	+	15	1973	c.1701G>A	c.(1699-1701)gaG>gaA	p.E567E	MYO7A_ENST00000409619.2_Silent_p.E556E|MYO7A_ENST00000409893.1_Silent_p.E567E|MYO7A_ENST00000458637.2_Silent_p.E567E	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	567	Myosin head-like.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GCTTCCTGGAGAAGAACCGAG	0.552000													5	7					0	0	0.000274275	0	0
RLF	6018	broad.mit.edu	37	1	40704907	40704907	+	Silent	SNP	T	T	C			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr1:40704907T>C	ENST00000372771.4	+	8	4560	c.4533T>C	c.(4531-4533)ttT>ttC	p.F1511F		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	1511					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			GGAGATCATTTAATGCTAAGT	0.418000													22	47					0	0	0.000295444	0	0
C17orf49	124944	broad.mit.edu	37	17	6919869	6919869	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr17:6919869C>T	ENST00000546495.1	+	4	637	c.274C>T	c.(274-276)Ctt>Ttt	p.L92F	MIR497HG_ENST00000443997.1_RNA|C17orf49_ENST00000439424.2_Missense_Mutation_p.L92F|C17orf49_ENST00000546760.1_Missense_Mutation_p.L92F|MIR497HG_ENST00000572453.1_RNA|RNASEK-C17orf49_ENST00000607129.1_Missense_Mutation_p.L92F|RNASEK-C17orf49_ENST00000606880.1_Missense_Mutation_p.L58F|C17orf49_ENST00000547709.1_3'UTR|RP11-589P10.7_ENST00000572547.1_RNA|C17orf49_ENST00000552775.1_Missense_Mutation_p.L66F|C17orf49_ENST00000552402.1_Missense_Mutation_p.L58F			Q8IXM2	BAP18_HUMAN	chromosome 17 open reading frame 49	92					chromatin modification	MLL1 complex|NURF complex	DNA binding			kidney(1)|large_intestine(2)|ovary(1)	4						TGGCATCCCCCTTCCAGCTGA	0.537000													25	68					0	0	0.000339439	0	0
WDR64	128025	broad.mit.edu	37	1	241964447	241964447	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr1:241964447G>A	ENST00000366552.2	+	27	3383	c.3176G>A	c.(3175-3177)aGa>aAa	p.R1059K	WDR64_ENST00000437684.2_Missense_Mutation_p.R892K	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	1059										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			CCACGAAGAAGAAGTTTGAAA	0.378000													25	40					0	0	0.00178596	0	0
TFEC	22797	broad.mit.edu	37	7	115614255	115614255	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr7:115614255C>T	ENST00000265440.7	-	3	416	c.236G>A	c.(235-237)gGa>gAa	p.G79E	TFEC_ENST00000320239.7_Intron|TFEC_ENST00000393485.1_Intron|TFEC_ENST00000484212.1_Missense_Mutation_p.G169E	NM_012252.3	NP_036384.1	O14948	TFEC_HUMAN	transcription factor EC	79	Necessary for transcriptional transactivation.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			AGAGTCTGCTCCTTCCTCTTT	0.323000													15	38					0	0	0.00074312	0	0
SERPINC1	462	broad.mit.edu	37	1	173880994	173880994	+	Silent	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr1:173880994G>A	ENST00000367698.3	-	3	685	c.567C>T	c.(565-567)acC>acT	p.T189T		NM_000488.3	NP_000479.1	P01008	ANT3_HUMAN	serpin peptidase inhibitor, clade C (antithrombin), member 1	189					blood coagulation|regulation of proteolysis	extracellular space|plasma membrane	heparin binding|protease binding|serine-type endopeptidase inhibitor activity			NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1)	25					Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)	TGTCCTGGTAGGTCTCATTGA	0.488000													47	98					0	0	0.000781405	0	0
GIMAP4	55303	broad.mit.edu	37	7	150269704	150269704	+	Silent	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr7:150269704C>T	ENST00000255945.2	+	3	721	c.546C>T	c.(544-546)ttC>ttT	p.F182F	GIMAP4_ENST00000494750.1_3'UTR|GIMAP4_ENST00000461940.1_Silent_p.F196F	NM_018326.2	NP_060796.1	Q9NUV9	GIMA4_HUMAN	GTPase, IMAP family member 4	182							GTP binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGGACATTTTCGGTGACCGCT	0.512000													20	52					0	0	0.00152264	0	0
MKRN3	7681	broad.mit.edu	37	15	23811327	23811327	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr15:23811327C>T	ENST00000314520.3	+	1	874	c.398C>T	c.(397-399)tCg>tTg	p.S133L	MKRN3_ENST00000568252.1_Intron|MKRN3_ENST00000564592.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	133						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		GGTGGCGTTTCGCCGCCTGGG	0.627000													9	22					0	0	0.000673444	0	0
SPEN	23013	broad.mit.edu	37	1	16202846	16202846	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr1:16202846C>T	ENST00000375759.3	+	3	758	c.554C>T	c.(553-555)gCt>gTt	p.A185V	SPEN_ENST00000471538.1_3'UTR	NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	185	Arg-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)		CTCTATTACGCTTCTCGGAGT	0.507000													15	12					0	0	0.000308642	0	0
ZNF41	7592	broad.mit.edu	37	X	47308213	47308213	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chrX:47308213C>T	ENST00000377065.4	-	5	1595	c.956G>A	c.(955-957)aGt>aAt	p.S319N	ZNF41_ENST00000313116.7_Missense_Mutation_p.S319N|ZNF41_ENST00000397050.2_Missense_Mutation_p.S329N	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	361						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				TGTATAAACACTTGGATGTAC	0.418000													19	13					0	0	0.00152264	0	0
CMYA5	202333	broad.mit.edu	37	5	79027102	79027102	+	Silent	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr5:79027102G>A	ENST00000446378.2	+	2	2545	c.2514G>A	c.(2512-2514)aaG>aaA	p.K838K		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	838						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TAGACGGCAAGGAGGTCATTG	0.458000													15	32					0	0	0.000219431	0	0
HECTD1	25831	broad.mit.edu	37	14	31583155	31583155	+	Silent	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr14:31583155G>A	ENST00000399332.1	-	32	6272	c.5784C>T	c.(5782-5784)caC>caT	p.H1928H	HECTD1_ENST00000553700.1_Silent_p.H1928H	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	1928					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)		TTAATTTCCAGTGGCGCAGGA	0.388000													14	34					0	0	0.00185496	0	0
SCAND3	114821	broad.mit.edu	37	6	28540300	28540300	+	Silent	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr6:28540300C>T	ENST00000452236.2	-	4	3983	c.3366G>A	c.(3364-3366)aaG>aaA	p.K1122K		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	1122					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						aagttgcattcttcccttgca	0.333000													27	69					0	0	0.00106085	0	0
PAK7	57144	broad.mit.edu	37	20	9624797	9624797	+	Silent	SNP	T	T	G			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr20:9624797T>G	ENST00000378429.3	-	4	726	c.180A>C	c.(178-180)acA>acC	p.T60T	PAK7_ENST00000353224.5_Silent_p.T60T|PAK7_ENST00000378423.1_Silent_p.T60T	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	60	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			GCTGGATGGGTGTGATGCATG	0.512000													14	24					0	0	0.00074312	0	0
SLC9C2	284525	broad.mit.edu	37	1	173494046	173494046	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr1:173494046G>A	ENST00000367714.3	-	20	2808	c.2386C>T	c.(2386-2388)Cgt>Tgt	p.R796C	SLC9C2_ENST00000466087.1_5'UTR|SLC9C2_ENST00000536496.1_3'UTR	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member C2 (putative)	796					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										ACAACATCACGACCCTCATGC	0.348000													12	72					0	0	0.00185496	0	0
RPL7L1	285855	broad.mit.edu	37	6	42853784	42853784	+	Silent	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr6:42853784C>T	ENST00000493763.1	+	5	798	c.495C>T	c.(493-495)atC>atT	p.I165I	RPL7L1_ENST00000602561.1_Silent_p.I165I|RPL7L1_ENST00000397415.3_3'UTR|RPL7L1_ENST00000424341.2_Intron|RPL7L1_ENST00000304734.5_Silent_p.I165I	NM_198486.2	NP_940888.2	Q6DKI1	RL7L_HUMAN	ribosomal protein L7-like 1	165					translation	large ribosomal subunit	protein binding|structural constituent of ribosome			breast(1)|endometrium(1)|large_intestine(1)|lung(3)	6	Colorectal(47;0.196)		Colorectal(64;0.00237)|all cancers(41;0.00288)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.088)			ATAAGACCATCCCTCTGACAG	0.458000													10	19					0	0	0.00136819	0	0
C6	729	broad.mit.edu	37	5	41181509	41181509	+	Silent	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr5:41181509G>A	ENST00000263413.3	-	7	1143	c.879C>T	c.(877-879)atC>atT	p.I293I	C6_ENST00000337836.5_Silent_p.I293I|C6_ENST00000475349.1_5'UTR	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	293	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	p.I293I(1)		central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				AATTATGGTTGATATTTTCAC	0.358000													34	57					0	0	0.000953801	0	0
LAMA3	3909	broad.mit.edu	37	18	21494765	21494765	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr18:21494765C>T	ENST00000313654.9	+	58	7826	c.7585C>T	c.(7585-7587)Ctt>Ttt	p.L2529F	LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000399516.3_Missense_Mutation_p.L2473F|LAMA3_ENST00000269217.6_Missense_Mutation_p.L920F|LAMA3_ENST00000587184.1_Missense_Mutation_p.L864F	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2529	Laminin G-like 1.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CAATACACTCCTTAATTTGGA	0.338000													19	36					0	0	0.000295444	0	0
ZNF454	285676	broad.mit.edu	37	5	178392043	178392043	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr5:178392043A>T	ENST00000320129.3	+	5	941	c.638A>T	c.(637-639)gAg>gTg	p.E213V	ZNF454_ENST00000519564.1_Missense_Mutation_p.E213V	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	213					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		CATATTAAGGAGAAAAGATAT	0.348000													27	43					0	0	0.000720815	0	0
DCTN1	1639	broad.mit.edu	37	2	74593654	74593654	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr2:74593654G>C	ENST00000361874.3	-	22	2877	c.2560C>G	c.(2560-2562)Cca>Gca	p.P854A	DCTN1_ENST00000394003.3_Missense_Mutation_p.P847A|DCTN1_ENST00000409438.1_Missense_Mutation_p.P720A|DCTN1_ENST00000407639.2_Missense_Mutation_p.P720A|DCTN1_ENST00000409567.3_Missense_Mutation_p.P834A|DCTN1_ENST00000409240.1_Missense_Mutation_p.P817A|DCTN1_ENST00000495643.1_Intron|DCTN1_ENST00000409868.1_Missense_Mutation_p.P837A	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	854					cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						TCTGCCAGTGGGGCAATGAGC	0.597000													4	71					0	0	0.00024832	0	0
RP1	6101	broad.mit.edu	37	8	55539782	55539782	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr8:55539782G>A	ENST00000220676.1	+	4	3488	c.3340G>A	c.(3340-3342)Ggt>Agt	p.G1114S		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1114					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TTCACTTGCAGGTGTTCCCTT	0.428000													19	40					0	0	0.00121646	0	0
SUV420H2	84787	broad.mit.edu	37	19	55858440	55858440	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr19:55858440C>T	ENST00000255613.3	+	9	1260	c.1012C>T	c.(1012-1014)Ccc>Tcc	p.P338S		NM_032701.3	NP_116090.2	Q86Y97	SV422_HUMAN	suppressor of variegation 4-20 homolog 2 (Drosophila)	338					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	4	Breast(117;0.191)		BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		GCGCCGACGCCCCCGGCCCCG	0.766000													4	1					0	0	0.000602214	0	0
FIG4	9896	broad.mit.edu	37	6	110098157	110098157	+	Silent	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr6:110098157C>T	ENST00000230124.3	+	16	1907	c.1783C>T	c.(1783-1785)Ctg>Ttg	p.L595L	FIG4_ENST00000441478.2_Silent_p.L318L	NM_014845.5	NP_055660.1	Q92562	FIG4_HUMAN	FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)	595					cell death	endosome membrane	protein binding			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		TAATCTCTTCCTGGGAGTTTT	0.358000													17	41					0	0	0.000566183	0	0
HSD17B4	3295	broad.mit.edu	37	5	118844860	118844860	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr5:118844860T>C	ENST00000504811.1	+	17	1617	c.1433T>C	c.(1432-1434)cTt>cCt	p.L478P	HSD17B4_ENST00000513628.1_Missense_Mutation_p.L316P|HSD17B4_ENST00000515320.1_Missense_Mutation_p.L435P|HSD17B4_ENST00000509514.1_Missense_Mutation_p.L191P|HSD17B4_ENST00000522415.1_3'UTR|HSD17B4_ENST00000256216.6_Missense_Mutation_p.L453P|HSD17B4_ENST00000510025.1_Missense_Mutation_p.L429P|HSD17B4_ENST00000414835.2_Missense_Mutation_p.L313P	NM_001199291.1	NP_001186220.1	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4	453	Enoyl-CoA hydratase 2.				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3-hydroxyacyl-CoA dehydrogenase activity|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity|estradiol 17-beta-dehydrogenase activity|isomerase activity|long-chain-enoyl-CoA hydratase activity|protein binding|sterol binding|sterol transporter activity			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)	NADH(DB00157)	GAGAAGGAACTTATATGCCAC	0.368000													50	95					0	0	0.000781405	0	0
AKAP8L	26993	broad.mit.edu	37	19	15508390	15508390	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr19:15508390G>A	ENST00000397410.4	-	11	1410	c.1346C>T	c.(1345-1347)aCc>aTc	p.T449I	AKAP8L_ENST00000595465.1_Missense_Mutation_p.T388I	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like	449						cytoplasm|nuclear matrix	DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						GTCCTCCACGGTTTTTCGGAG	0.527000													10	23					0	0	0.000673444	0	0
MSH5-SAPCD1	100532732	broad.mit.edu	37	6	31727229	31727229	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr6:31727229C>T	ENST00000493662.2	+	17	1542	c.1486C>T	c.(1486-1488)Cgt>Tgt	p.R496C	MSH5_ENST00000375703.3_Missense_Mutation_p.R479C|MSH5_ENST00000534153.4_Missense_Mutation_p.R496C|MSH5_ENST00000375742.3_Missense_Mutation_p.R496C|MSH5_ENST00000375750.3_Missense_Mutation_p.R479C|MSH5_ENST00000375755.3_Missense_Mutation_p.R479C|MSH5_ENST00000431848.2_Missense_Mutation_p.R178C|MSH5_ENST00000395853.1_Missense_Mutation_p.R153C|MSH5_ENST00000375740.3_Missense_Mutation_p.R496C																							GCTGCACTATCGTAGTGCCCG	0.522000													78	125					0	0	0.000781405	0	0
TNFSF15	9966	broad.mit.edu	37	9	117553074	117553074	+	Silent	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr9:117553074G>A	ENST00000374045.4	-	4	527	c.414C>T	c.(412-414)ttC>ttT	p.F138F	TNFSF15_ENST00000374044.1_Silent_p.F61F	NM_001204344.1|NM_005118.3	NP_001191273.1|NP_005109.2	O95150	TNF15_HUMAN	tumor necrosis factor (ligand) superfamily, member 15	138					activation of caspase activity|activation of NF-kappaB-inducing kinase activity|cytokine metabolic process|immune response	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11						GGATCAGCAGGAATTTGTTGG	0.498000													12	15					0	0	0.00136819	0	0
ARHGAP36	158763	broad.mit.edu	37	X	130220377	130220377	+	Silent	SNP	A	A	G			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chrX:130220377A>G	ENST00000276211.5	+	10	1701	c.1356A>G	c.(1354-1356)agA>agG	p.R452R	ARHGAP36_ENST00000370921.1_Silent_p.R316R|ARHGAP36_ENST00000370922.1_Silent_p.R440R	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	452					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						ATTTTATCAGACGCAGGAACT	0.478000													24	12					0	0	0.000878237	0	0
HS3ST5	222537	broad.mit.edu	37	6	114378505	114378505	+	Silent	SNP	A	A	G			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr6:114378505A>G	ENST00000312719.5	-	5	2145	c.957T>C	c.(955-957)tcT>tcC	p.S319S	RP3-399L15.3_ENST00000519104.1_RNA|RP3-399L15.3_ENST00000523087.1_RNA|RP3-399L15.3_ENST00000519270.1_RNA|HS3ST5_ENST00000411826.1_Silent_p.S319S			Q8IZT8	HS3S5_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 5	319					heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding			breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	41		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		TAGTAATGACAGAGGGGTCCA	0.413000													14	33					0	0	0.000219431	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37418873	37418873	+	Silent	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr10:37418873C>T	ENST00000374660.1	+	2	205	c.106C>T	c.(106-108)Ctg>Ttg	p.L36L	ANKRD30A_ENST00000602533.1_Silent_p.L36L|ANKRD30A_ENST00000361713.1_Silent_p.L36L			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	92						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AGTAACATTTCTGGTAGACAG	0.468000													9	18					0	0	0.000978159	0	0
COL23A1	91522	broad.mit.edu	37	5	177733917	177733917	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr5:177733917G>A	ENST00000390654.3	-	3	722	c.365C>T	c.(364-366)cCc>cTc	p.P122L	COL23A1_ENST00000407622.1_Missense_Mutation_p.P95L	NM_173465.3	NP_775736.2	Q86Y22	CONA1_HUMAN	collagen, type XXIII, alpha 1	122	Gly-rich.					collagen|integral to membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)		CCGTCCAGGGGGCCCTAGACA	0.617000													3	5					0	0	6.4e-05	0	0
CA4	762	broad.mit.edu	37	17	58227437	58227437	+	Silent	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr17:58227437G>A	ENST00000300900.4	+	1	141	c.42G>A	c.(40-42)cgG>cgA	p.R14R		NM_000717.3	NP_000708.1	P22748	CAH4_HUMAN	carbonic anhydrase IV	14			R -> W (in RP17; abolishes interaction with SLC4A4. Impaired SLC4A4 cotransporter activity stimulation).		bicarbonate transport|one-carbon metabolic process	anchored to external side of plasma membrane|apical plasma membrane|brush border membrane|ER-Golgi intermediate compartment|membrane fraction|perinuclear region of cytoplasm|rough endoplasmic reticulum|secretory granule membrane|trans-Golgi network|transport vesicle membrane	carbonate dehydratase activity|protein binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(5)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.83e-12)|all cancers(12;6.83e-11)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)	CCGCGGCGCGGCCATCGGCCA	0.761000													7	26					0	0	0.000274275	0	0
AHNAK	79026	broad.mit.edu	37	11	62298301	62298301	+	Silent	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr11:62298301G>A	ENST00000378024.4	-	5	3862	c.3588C>T	c.(3586-3588)tcC>tcT	p.S1196S	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1196					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)				CATCAGGCATGGAGATCTTGG	0.502000													83	181					0	0	0.000781405	0	0
EPHA6	285220	broad.mit.edu	37	3	97167434	97167434	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr3:97167434C>T	ENST00000389672.5	+	7	1792	c.1754C>T	c.(1753-1755)tCt>tTt	p.S585F	EPHA6_ENST00000442602.2_5'UTR|EPHA6_ENST00000502694.1_5'UTR|EPHA6_ENST00000514100.1_5'UTR	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	490						integral to plasma membrane	ATP binding|ephrin receptor activity	p.S491Y(2)|p.S585Y(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						CTGACCTACTCTTCCACAAGG	0.438000													18	39					0	0	0.000958276	0	0
TSSC2	650368	broad.mit.edu	37	11	3427736	3427736	+	RNA	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr11:3427736G>A	ENST00000529482.1	+	0	853																											CAGGGTCGGTGGATCTGGGTG	0.622000													6	16					0	0	8.12818e-05	0	0
FTHL17	53940	broad.mit.edu	37	X	31089818	31089818	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chrX:31089818C>T	ENST00000359202.3	-	1	352	c.253G>A	c.(253-255)Gat>Aat	p.D85N		NM_031894.2	NP_114100.1	Q9BXU8	FHL17_HUMAN	ferritin, heavy polypeptide-like 17	85	Ferritin-like diiron.				cellular iron ion homeostasis|iron ion transport		ferric iron binding|oxidoreductase activity			endometrium(2)|large_intestine(2)|liver(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	23						TTCCTGATATCGTGAAGGCAG	0.597000													32	4					0	0	0.00058488	0	0
ATG2B	55102	broad.mit.edu	37	14	96775866	96775866	+	Silent	SNP	T	T	C			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr14:96775866T>C	ENST00000359933.4	-	29	5120	c.4227A>G	c.(4225-4227)ttA>ttG	p.L1409L	ATG2B_ENST00000261834.5_5'UTR	NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1409										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		TCAGATCTCGTAACATTTGTT	0.438000													23	45					0	0	0.000295444	0	0
MYO15A	51168	broad.mit.edu	37	17	18075514	18075514	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr17:18075514C>T	ENST00000451725.2	+	8	680	c.641C>T	c.(640-642)tCa>tTa	p.S214L	MYO15A_ENST00000418233.3_Silent_p.F684F|MYO15A_ENST00000205890.5_Silent_p.F3420F			Q9UKN7	MYO15_HUMAN	myosin XVA	672	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)					CCTTCTTCTTCATCCAGAGCT	0.582000													18	29					0	0	0.000566183	0	0
PJA2	9867	broad.mit.edu	37	5	108714072	108714072	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr5:108714072G>C	ENST00000361189.2	-	4	1355	c.1116C>G	c.(1114-1116)gaC>gaG	p.D372E	PJA2_ENST00000361557.3_Missense_Mutation_p.D372E	NM_014819.4	NP_055634.3	O43164	PJA2_HUMAN	praja ring finger 2, E3 ubiquitin protein ligase	372					long-term memory|regulation of protein kinase A signaling cascade	cell junction|endoplasmic reticulum membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	ligase activity|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151)		OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224)		AGAACATACAGTCATGCTCTC	0.403000													28	77					0	0	0.00178596	0	0
ZNF286A	57335	broad.mit.edu	37	17	15604484	15604484	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr17:15604484C>T	ENST00000464847.2	+	2	609	c.56C>T	c.(55-57)tCt>tTt	p.S19F	ZNF286A_ENST00000413242.2_Missense_Mutation_p.S19F|ZNF286A_ENST00000421016.1_Missense_Mutation_p.S19F|ZNF286A_ENST00000395893.2_Missense_Mutation_p.S19F|ZNF286A_ENST00000395894.2_Missense_Mutation_p.S19F|ZNF286A_ENST00000593105.1_Missense_Mutation_p.S9F|ZNF286A_ENST00000585171.1_3'UTR|ZNF286A_ENST00000583566.1_Missense_Mutation_p.S19F|ZNF286A_ENST00000472486.1_Missense_Mutation_p.S9F|ZNF286A_ENST00000585194.1_Missense_Mutation_p.S19F|ZNF286A_ENST00000580259.1_Missense_Mutation_p.S19F|ZNF286A_ENST00000581529.1_Missense_Mutation_p.S9F			Q9HBT8	Z286A_HUMAN	zinc finger protein 286A	19					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.0781)		TCCCAGGATTCTCCCCATTTC	0.473000													30	233					0	0	0.000781405	0	0
SLC25A53	401612	broad.mit.edu	37	X	103349876	103349876	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chrX:103349876C>T	ENST00000357421.4	-	2	245	c.65G>A	c.(64-66)gGa>gAa	p.G22E		NM_001012755.3	NP_001012773.2	Q5H9E4	MCAR6_HUMAN	solute carrier family 25, member 53	22					transport	integral to membrane|mitochondrial inner membrane											GCTTTTCTTTCCTGGAGCCTC	0.532000													9	7					0	0	0.000442599	0	0
LIM2	3982	broad.mit.edu	37	19	51883892	51883892	+	Splice_Site	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr19:51883892G>A	ENST00000221973.3	-	4	495	c.451_splice	c.e4-1	p.T151_splice	LIM2_ENST00000596399.1_Splice_Site_p.T109_splice	NM_030657.3	NP_085915.2	P55344	LMIP_HUMAN	lens intrinsic membrane protein 2, 19kDa	109					cell-cell junction assembly	cell junction|integral to membrane	structural constituent of eye lens			endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000214)|OV - Ovarian serous cystadenocarcinoma(262;0.00985)		CGACGAAAAGGGCTGgggaga	0.602000													6	19					0	0	0.00116845	0	0
KIF13B	23303	broad.mit.edu	37	8	28988061	28988061	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr8:28988061G>A	ENST00000524189.1	-	24	3102	c.3064C>T	c.(3064-3066)Cag>Tag	p.Q1022*	CTD-2647L4.1_ENST00000523661.1_RNA	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	1022					microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		TGCCGGAGCTGGAAGATTCCT	0.398000													32	61					0	0	0.00058488	0	0
LY6G6F	259215	broad.mit.edu	37	6	31678184	31678184	+	Silent	SNP	G	G	A	rs116567866	byFrequency	TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr6:31678184G>A	ENST00000375832.4	+	5	880	c.858G>A	c.(856-858)ttG>ttA	p.L286L	XXbac-BPG32J3.20_ENST00000461287.1_Intron|LY6G6F_ENST00000556581.1_Intron|MEGT1_ENST00000503322.1_Intron	NM_001003693.1	NP_001003693.1	Q5SQ64	LY66F_HUMAN	lymphocyte antigen 6 complex, locus G6F	286						integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	12						ACATCCATTTGGCCCGTCTTG	0.547000													78	193					0	0	0.000781405	0	0
PCDHA1	56147	broad.mit.edu	37	5	140167038	140167038	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr5:140167038C>T	ENST00000504120.2	+	1	1163	c.1163C>T	c.(1162-1164)tCc>tTc	p.S388F	PCDHA1_ENST00000394633.3_Missense_Mutation_p.S388F|PCDHA1_ENST00000378133.3_Missense_Mutation_p.S388F	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGACTTGCTCCTTAATGCCC	0.562000													23	43					0	0	0.000586117	0	0
CACNA1C	775	broad.mit.edu	37	12	2774812	2774812	+	Silent	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr12:2774812C>T	ENST00000399655.1	+	36	4729	c.4464C>T	c.(4462-4464)atC>atT	p.I1488I	CACNA1C_ENST00000399595.1_Silent_p.I1477I|CACNA1C_ENST00000344100.3_Silent_p.I1510I|CACNA1C_ENST00000402845.3_Silent_p.I1488I|CACNA1C_ENST00000399637.1_Silent_p.I1488I|CACNA1C_ENST00000399634.1_Silent_p.I1488I|CACNA1C_ENST00000399617.1_Silent_p.I1488I|CACNA1C_ENST00000399603.1_Silent_p.I1488I|CACNA1C_ENST00000399621.1_Silent_p.I1488I|CACNA1C_ENST00000406454.3_Silent_p.I1488I|CACNA1C_ENST00000399649.1_Silent_p.I1475I|CACNA1C_ENST00000399601.1_Silent_p.I1488I|CACNA1C_ENST00000399629.1_Silent_p.I1505I|CACNA1C_ENST00000399606.1_Silent_p.I1508I|CACNA1C_ENST00000399641.1_Silent_p.I1488I|CACNA1C_ENST00000327702.7_Silent_p.I1488I|CACNA1C_ENST00000399638.1_Silent_p.I1516I|CACNA1C_ENST00000347598.4_Silent_p.I1536I|CACNA1C_ENST00000399644.1_Silent_p.I1488I|CACNA1C_ENST00000335762.5_Silent_p.I1513I|CACNA1C_ENST00000399597.1_Silent_p.I1488I|CACNA1C_ENST00000399591.1_Silent_p.I1477I	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1536	Dihydropyridine binding (By similarity).				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	ACTGGTCCATCCTTGGTCCCC	0.488000													6	19					0	0	8.12818e-05	0	0
UPK3A	7380	broad.mit.edu	37	22	45683217	45683217	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr22:45683217G>A	ENST00000216211.4	+	3	405	c.373G>A	c.(373-375)Gcc>Acc	p.A125T	UPK3A_ENST00000396082.2_Intron	NM_006953.3	NP_008884.1	O75631	UPK3A_HUMAN	uroplakin 3A	125					epithelial cell differentiation	endoplasmic reticulum membrane|integral to membrane				kidney(1)|large_intestine(1)|lung(2)|skin(1)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		TGTGTCCAAGGCCTCACAGAT	0.612000													11	21					0	0	0.00136819	0	0
PCDHA6	56142	broad.mit.edu	37	5	140209338	140209338	+	Silent	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr5:140209338C>T	ENST00000529310.1	+	1	1776	c.1662C>T	c.(1660-1662)ttC>ttT	p.F554F	PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCAGGTGTTCGTGCTGGACG	0.692000													32	47					0	0	0.000953801	0	0
ACKR3	57007	broad.mit.edu	37	2	237489738	237489738	+	Silent	SNP	C	C	T	rs146961395	byFrequency	TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr2:237489738C>T	ENST00000272928.3	+	2	940	c.630C>T	c.(628-630)atC>atT	p.I210I		NM_020311.2	NP_064707.1			atypical chemokine receptor 3																		AGTGGCTGATCGGCATGGAGC	0.572000													31	22					0	0	0.00111076	0	0
ADAMTS17	170691	broad.mit.edu	37	15	100692897	100692897	+	Silent	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr15:100692897G>A	ENST00000268070.4	-	10	1498	c.1393C>T	c.(1393-1395)Ctg>Ttg	p.L465L		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	465	Disintegrin.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		ATGCCCGGCAGCTTGTGCGGG	0.577000													28	34					0	0	0.00106085	0	0
KCNJ5	3762	broad.mit.edu	37	11	128781414	128781414	+	Silent	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr11:128781414G>A	ENST00000529694.1	+	2	622	c.246G>A	c.(244-246)gtG>gtA	p.V82V	KCNJ5_ENST00000338350.4_Silent_p.V82V|KCNJ5_ENST00000533599.1_Silent_p.V82V	NM_000890.3	NP_000881.3	P48544	IRK5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	82					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	CCACCCTGGTGGACCTCAAGT	0.557000													13	20					0	0	0.00185496	0	0
DPP6	1804	broad.mit.edu	37	7	154143338	154143338	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr7:154143338G>A	ENST00000404039.1	+	2	678	c.91G>A	c.(91-93)Gga>Aga	p.G31R	DPP6_ENST00000377770.3_Missense_Mutation_p.G95R|DPP6_ENST00000496611.1_3'UTR|DPP6_ENST00000427557.1_Missense_Mutation_p.G33R|DPP6_ENST00000332007.3_Missense_Mutation_p.G33R|DPP6_ENST00000406326.1_Missense_Mutation_p.G95R	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	95					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			GAATTGGAAAGGAATAGCAAT	0.438000													13	33					0	0	0.000566183	0	0
CRHR1	1394	broad.mit.edu	37	17	43893932	43893932	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr17:43893932C>T	ENST00000339069.5	+	5	639	c.8C>T	c.(7-9)tCc>tTc	p.S3F	CRHR1_ENST00000398285.3_Silent_p.V75V|CRHR1_ENST00000577353.1_Silent_p.V75V|CRHR1_ENST00000352855.5_Intron|CRHR1_ENST00000293493.7_5'UTR|CRHR1_ENST00000314537.5_Silent_p.V75V			P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	0					female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		TCTATGGTGTCCGCTACAATA	0.602000													8	16					0	0	0.000157383	0	0
ADCY7	113	broad.mit.edu	37	16	50326619	50326619	+	Silent	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr16:50326619G>A	ENST00000394697.2	+	5	910	c.570G>A	c.(568-570)ggG>ggA	p.G190G	ADCY7_ENST00000564044.1_3'UTR|ADCY7_ENST00000254235.3_Silent_p.G190G|ADCY7_ENST00000566433.2_Silent_p.G190G|ADCY7_ENST00000538642.1_Silent_p.G190G|ADCY7_ENST00000537579.1_Silent_p.G190G			P51828	ADCY7_HUMAN	adenylate cyclase 7	190					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	TCCTGTGTGGGAACCTGACAG	0.607000													7	25					0	0	0.000274275	0	0
PPARGC1B	133522	broad.mit.edu	37	5	149216075	149216075	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr5:149216075C>T	ENST00000309241.5	+	8	2089	c.2057C>T	c.(2056-2058)tCc>tTc	p.S686F	PPARGC1B_ENST00000360453.4_Missense_Mutation_p.S647F|PPARGC1B_ENST00000403750.1_Missense_Mutation_p.S622F|PPARGC1B_ENST00000394320.3_Missense_Mutation_p.S686F	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	686					estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CGTCCCTTCTCCTGTTCCTTT	0.612000													19	27					0	0	0.00188189	0	0
OR4K14	122740	broad.mit.edu	37	14	20482945	20482945	+	Silent	SNP	C	C	T	rs77403071	by1000genomes	TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr14:20482945C>T	ENST00000305045.2	-	1	407	c.408G>A	c.(406-408)ttG>ttA	p.L136L		NM_001004712.1	NP_001004712.1	Q8NGD5	OR4KE_HUMAN	olfactory receptor, family 4, subfamily K, member 14	136					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)		GCCAACTCATCAAAGTCATGT	0.478000													9	28					0	0	0.000673444	0	0
PRDM10	56980	broad.mit.edu	37	11	129817269	129817269	+	Silent	SNP	G	G	A	rs151054382	byFrequency	TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr11:129817269G>A	ENST00000423662.2	-	1	248	c.33C>T	c.(31-33)gcC>gcT	p.A11A	PRDM10_ENST00000360871.3_Intron|PRDM10_ENST00000528746.1_Intron|PRDM10_ENST00000526082.1_Silent_p.A11A|PRDM10_ENST00000358825.5_Intron|PRDM10_ENST00000304538.6_Silent_p.A11A	NM_199438.1	NP_955470.1	Q9NQV6	PRD10_HUMAN	PR domain containing 10	97					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		ATGAGGCCTGGGCAAAAGTTG	0.557000													19	17					0	0	0.00152264	0	0
C10orf71	118461	broad.mit.edu	37	10	50532056	50532056	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr10:50532056G>A	ENST00000374144.3	+	3	1754	c.1466G>A	c.(1465-1467)cGa>cAa	p.R489Q	C10orf71_ENST00000323868.4_Missense_Mutation_p.R489Q			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	489								p.R489Q(1)		endometrium(1)	1						TGTCAGTCTCGAGACAGCTAC	0.547000													4	9					0	0	0.00024832	0	0
KHDRBS2	202559	broad.mit.edu	37	6	62995763	62995763	+	Splice_Site	SNP	C	C	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr6:62995763C>A	ENST00000281156.4	-	1	369	c.91_splice	c.e1+1	p.E31_splice		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	31					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		CAAGTCCTACCTTCTGCCAAA	0.572000													6	9					1.12685e-05	8.32782e-05	0.000274275	1	0
TSC2	7249	broad.mit.edu	37	16	2105494	2105494	+	Silent	SNP	C	C	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr16:2105494C>A	ENST00000219476.3	+	6	1203	c.573C>A	c.(571-573)ctC>ctA	p.L191L	TSC2_ENST00000401874.2_Silent_p.L191L|TSC2_ENST00000382538.6_Silent_p.L142L|TSC2_ENST00000568454.1_Silent_p.L202L|TSC2_ENST00000353929.4_Silent_p.L191L|TSC2_ENST00000439673.2_Silent_p.L154L|TSC2_ENST00000350773.4_Silent_p.L191L	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	191	Required for interaction with TSC1.				cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				GCTGTTACCTCGACGAGTACA	0.463000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				5	128					0.00116845	0.00851079	0.00116845	1	0
ZMAT1	84460	broad.mit.edu	37	X	101153003	101153003	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chrX:101153003C>G	ENST00000372782.3	-	5	390	c.343G>C	c.(343-345)Gaa>Caa	p.E115Q	ZMAT1_ENST00000540921.1_Missense_Mutation_p.E115Q|ZMAT1_ENST00000458570.1_5'UTR	NM_001011657.3	NP_001011657.2	A7MD47	A7MD47_HUMAN	zinc finger, matrin-type 1	0						nucleus	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						TCCACTCCTTCATACCTATGC	0.373000													30	8					0	0	0.000491102	0	0
DDX60	55601	broad.mit.edu	37	4	169190007	169190007	+	Silent	SNP	G	G	T	rs145361158		TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr4:169190007G>T	ENST00000393743.3	-	20	3075	c.2784C>A	c.(2782-2784)acC>acA	p.T928T		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	928	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		ATGCCTACTCGGTGAGATGTT	0.368000													5	79					0.00116845	0.00851079	0.00116845	1	0
SUV420H2	84787	broad.mit.edu	37	19	55858441	55858441	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr19:55858441C>T	ENST00000255613.3	+	9	1261	c.1013C>T	c.(1012-1014)cCc>cTc	p.P338L		NM_032701.3	NP_116090.2	Q86Y97	SV422_HUMAN	suppressor of variegation 4-20 homolog 2 (Drosophila)	338					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	4	Breast(117;0.191)		BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		CGCCGACGCCCCCGGCCCCGG	0.766000													4	1					0	0	0.00024832	0	0
HSCB	150274	broad.mit.edu	37	22	29139951	29139951	+	Silent	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr22:29139951C>T	ENST00000216027.3	+	2	383	c.318C>T	c.(316-318)ttC>ttT	p.F106F	HSCB_ENST00000398941.2_Silent_p.F106F|HSCB_ENST00000495977.1_3'UTR	NM_172002.3	NP_741999.3	Q8IWL3	HSC20_HUMAN	HscB mitochondrial iron-sulfur cluster co-chaperone	106	J.				iron-sulfur cluster assembly|protein folding	mitochondrion	chaperone binding|heat shock protein binding|metal ion binding			kidney(1)|lung(2)|skin(1)	4						CAGATTTCTTCAGCCAGAGGT	0.502000													27	49					0	0	0.00106085	0	0
CNTN6	27255	broad.mit.edu	37	3	1424998	1424998	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr3:1424998G>A	ENST00000446702.2	+	19	3050	c.2423G>A	c.(2422-2424)gGa>gAa	p.G808E	CNTN6_ENST00000350110.2_Missense_Mutation_p.G808E|CNTN6_ENST00000539053.1_Missense_Mutation_p.G736E			Q9UQ52	CNTN6_HUMAN	contactin 6	808	Fibronectin type-III 3.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		GCCCCAAGGGGAACTTCTCTC	0.438000													65	53					0	0	0.000781405	0	0
ZCWPW1	55063	broad.mit.edu	37	7	100017418	100017418	+	Silent	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr7:100017418C>T	ENST00000398027.2	-	4	364	c.117G>A	c.(115-117)gaG>gaA	p.E39E	ZCWPW1_ENST00000490721.1_5'UTR|ZCWPW1_ENST00000360951.4_Silent_p.E39E|ZCWPW1_ENST00000324725.6_5'UTR	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	39							zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCGGGGTCTCCTCCTTAGGGG	0.478000													17	35					0	0	0.000958276	0	0
BAGE2	85319	broad.mit.edu	37	21	11039296	11039296	+	RNA	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr21:11039296G>A	ENST00000470054.1	-	0	907									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)		GGTGTGTAACGACTTCAATGT	0.388000													14	287					0	0	0.000566183	0	0
SLC9C1	285335	broad.mit.edu	37	3	111899457	111899457	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr3:111899457C>T	ENST00000305815.5	-	22	2954	c.2702G>A	c.(2701-2703)gGt>gAt	p.G901D	SLC9C1_ENST00000487372.1_Missense_Mutation_p.G853D	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	901					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										GGGCTCATCACCTTCTTCAAA	0.308000													12	33					0	0	0.00185496	0	0
CELF1	10658	broad.mit.edu	37	11	47496921	47496921	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr11:47496921G>A	ENST00000395290.2	-	10	1162	c.1153C>T	c.(1153-1155)Cag>Tag	p.Q385*	CELF1_ENST00000532048.1_Nonsense_Mutation_p.Q412*|CELF1_ENST00000539455.1_5'UTR|CELF1_ENST00000310513.5_Nonsense_Mutation_p.Q382*|CELF1_ENST00000395292.2_Nonsense_Mutation_p.Q383*|CELF1_ENST00000361904.3_Nonsense_Mutation_p.Q383*|CELF1_ENST00000358597.3_Nonsense_Mutation_p.Q386*|CELF1_ENST00000531165.1_Nonsense_Mutation_p.Q414*	NM_001025596.2|NM_001172640.1	NP_001020767.1|NP_001166111.1	Q92879	CELF1_HUMAN	CUGBP, Elav-like family member 1	386					embryo development|mRNA splice site selection|regulation of RNA splicing|RNA interference	cytoplasm|nucleus|ribonucleoprotein complex	BRE binding|mRNA binding|nucleotide binding|translation repressor activity, nucleic acid binding			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)	18						CCAATACTCTGCTGTGTCAGA	0.567000													11	23					0	0	0.000219431	0	0
ADAMTS19	171019	broad.mit.edu	37	5	128977636	128977636	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr5:128977636G>A	ENST00000274487.4	+	11	1982	c.1837G>A	c.(1837-1839)Gac>Aac	p.D613N	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	613	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		GGATGGAACTGACTGTGACCT	0.403000													17	21					0	0	0.00121646	0	0
BSN	8927	broad.mit.edu	37	3	49699687	49699687	+	Missense_Mutation	SNP	G	G	A	rs142290203		TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr3:49699687G>A	ENST00000296452.4	+	6	10523	c.10409G>A	c.(10408-10410)cGg>cAg	p.R3470Q		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	3470					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GAAAGGGAACGGGAGGCTGTG	0.637000													16	18					0	0	0.000422831	0	0
FNDC1	84624	broad.mit.edu	37	6	159672423	159672423	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr6:159672423G>A	ENST00000297267.9	+	17	5124	c.4924G>A	c.(4924-4926)Gaa>Aaa	p.E1642K	FNDC1_ENST00000340366.6_Missense_Mutation_p.E1579K	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1642						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CAGCCTGGATGAAATCATCCC	0.527000													11	18					0	0	0.000978159	0	0
FAM129A	116496	broad.mit.edu	37	1	184767259	184767259	+	Silent	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr1:184767259G>A	ENST00000367511.3	-	13	1813	c.1620C>T	c.(1618-1620)gtC>gtT	p.V540V	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	540					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						TCTCCTCATAGACATTTTCAA	0.418000													10	31					0	0	0.00136819	0	0
SNHG14	104472715	broad.mit.edu	37	15	25232213	25232213	+	RNA	SNP	A	A	G			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr15:25232213A>G	ENST00000551631.2	+	0	887				SNHG14_ENST00000551361.1_RNA	NR_001293.1																						AGAAGATGGCAAATTGCATTA	0.398000													15	22					0	0	0.000219431	0	0
FBN3	84467	broad.mit.edu	37	19	8193922	8193922	+	Silent	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr19:8193922C>T	ENST00000600128.1	-	18	2700	c.2286G>A	c.(2284-2286)gaG>gaA	p.E762E	FBN3_ENST00000270509.2_Silent_p.E762E|FBN3_ENST00000601739.1_Silent_p.E762E			Q75N90	FBN3_HUMAN	fibrillin 3	762	EGF-like 9; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CTTTGCAGATCTCCGTGTCCT	0.602000													13	21					0	0	0.00136819	0	0
SLC2A2	6514	broad.mit.edu	37	3	170727809	170727809	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr3:170727809G>A	ENST00000314251.3	-	4	513	c.434C>T	c.(433-435)tCa>tTa	p.S145L	SLC2A2_ENST00000382808.4_Missense_Mutation_p.S26L	NM_000340.1	NP_000331.1	P11168	GTR2_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 2	145					carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane|membrane fraction	D-glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)			TCCCAATTTTGAAAACCCCAT	0.368000													59	47					0	0	0.000781405	0	0
S1PR3	1903	broad.mit.edu	37	9	91616628	91616628	+	Silent	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr9:91616628G>A	ENST00000375846.3	+	1	5208	c.513G>A	c.(511-513)ctG>ctA	p.L171L	S1PR3_ENST00000358157.2_Silent_p.L171L			Q99500	S1PR3_HUMAN	sphingosine-1-phosphate receptor 3	171					anatomical structure morphogenesis|elevation of cytosolic calcium ion concentration|inflammatory response|positive regulation of cell proliferation	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(1)	34						TGGGCGCCCTGCCCATTCTGG	0.552000											OREG0019291	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	11					0	0	0.000219431	0	0
DNAH5	1767	broad.mit.edu	37	5	13820577	13820577	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr5:13820577G>A	ENST00000265104.4	-	41	6823	c.6719C>T	c.(6718-6720)cCt>cTt	p.P2240L		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2240	AAA 2 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CAGTTTCCAAGGAGGATGGTT	0.517000									Kartagener syndrome				16	23					0	0	0.000566183	0	0
GCNT2	2651	broad.mit.edu	37	6	10557298	10557298	+	Silent	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr6:10557298C>T	ENST00000316170.3	+	1	1059	c.642C>T	c.(640-642)acC>acT	p.T214T	GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000379597.3_Intron|GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000410107.1_Intron	NM_001491.2	NP_001482.1	Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	216						Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		AAAATATCACCCCAGGGGTGC	0.458000													11	33					0	0	0.000978159	0	0
PPFIA2	8499	broad.mit.edu	37	12	81719572	81719572	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr12:81719572G>A	ENST00000550584.2	-	21	2921	c.2626C>T	c.(2626-2628)Cga>Tga	p.R876*	PPFIA2_ENST00000549396.1_Nonsense_Mutation_p.R876*|PPFIA2_ENST00000407050.4_Nonsense_Mutation_p.R802*|PPFIA2_ENST00000549325.1_Nonsense_Mutation_p.R858*|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000541017.1_Nonsense_Mutation_p.R93*|PPFIA2_ENST00000552948.1_Nonsense_Mutation_p.R876*|PPFIA2_ENST00000443686.3_Nonsense_Mutation_p.R777*|PPFIA2_ENST00000333447.7_Nonsense_Mutation_p.R858*|PPFIA2_ENST00000541570.2_Nonsense_Mutation_p.R443*|PPFIA2_ENST00000548586.1_Nonsense_Mutation_p.R876*|PPFIA2_ENST00000550359.2_Nonsense_Mutation_p.R723*	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	802								p.R876*(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TTTAGTCTTCGATCCTTCTCA	0.393000													14	31					0	0	0.000219431	0	0
POLN	353497	broad.mit.edu	37	4	2077206	2077206	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr4:2077206C>T	ENST00000511885.2	-	24	2781	c.2428G>A	c.(2428-2430)Gaa>Aaa	p.E810K	POLN_ENST00000382865.1_Missense_Mutation_p.E810K			Q7Z5Q5	DPOLN_HUMAN	polymerase (DNA directed) nu	810					DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity			kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			TGCGGATCTTCCACTTCAAAC	0.622000								DNA polymerases (catalytic subunits)					9	13					0	0	0.000442599	0	0
DNAH1	25981	broad.mit.edu	37	3	52397078	52397078	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr3:52397078C>T	ENST00000420323.2	+	32	5423	c.5162C>T	c.(5161-5163)tCc>tTc	p.S1721F		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1721	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TCCCTCTATTCCTTTGGCTTT	0.532000													23	37					0	0	0.000586117	0	0
APP	351	broad.mit.edu	37	21	27372454	27372454	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr21:27372454C>T	ENST00000358918.3	-	7	1108	c.909G>A	c.(907-909)atG>atA	p.M303I	APP_ENST00000354192.3_Intron|APP_ENST00000346798.3_Missense_Mutation_p.M303I|APP_ENST00000440126.3_Missense_Mutation_p.M298I|APP_ENST00000357903.3_Missense_Mutation_p.M303I|APP_ENST00000359726.3_Intron|APP_ENST00000448388.2_Intron|APP_ENST00000439274.2_Missense_Mutation_p.M247I|APP_ENST00000348990.5_Intron	NM_001204301.1|NM_001204302.1	NP_001191230.1|NP_001191231.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	303	BPTI/Kunitz inhibitor.				adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				AGCGGGAGATCATTGCTCGGC	0.522000													5	28					0	0	8.12818e-05	0	0
SRRM2	23524	broad.mit.edu	37	16	2810467	2810467	+	Silent	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr16:2810467C>T	ENST00000301740.8	+	10	1548	c.999C>T	c.(997-999)agC>agT	p.S333S		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	333	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						AGCCTAGCAGCCCTTATGAAG	0.488000													13	24					0	0	0.000308642	0	0
OR51G1	79324	broad.mit.edu	37	11	4945255	4945255	+	Silent	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr11:4945255G>A	ENST00000321961.2	-	1	382	c.315C>T	c.(313-315)ttC>ttT	p.F105F	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G, member 1	105					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGGTGTGGATGAAGAAGAGCT	0.512000													18	25					0	0	0.000958276	0	0
MFSD9	84804	broad.mit.edu	37	2	103334980	103334980	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr2:103334980G>A	ENST00000258436.5	-	6	1367	c.1324C>T	c.(1324-1326)Ccc>Tcc	p.P442S		NM_032718.3	NP_116107.3	Q8NBP5	MFSD9_HUMAN	major facilitator superfamily domain containing 9	442					transmembrane transport	integral to membrane|plasma membrane	transporter activity			breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						CCCAGGCTGGGGGGGCCGCAA	0.562000													14	32					0	0	0.00074312	0	0
CACNA1G	8913	broad.mit.edu	37	17	48649365	48649365	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr17:48649365G>A	ENST00000352832.5	+	5	1085	c.713G>A	c.(712-714)cGg>cAg	p.R238Q	CACNA1G_ENST00000416767.4_Missense_Mutation_p.R238Q|CACNA1G_ENST00000513964.1_Missense_Mutation_p.R238Q|CACNA1G_ENST00000515765.1_Missense_Mutation_p.R238Q|CACNA1G_ENST00000354983.4_Missense_Mutation_p.R238Q|CACNA1G_ENST00000512389.1_Missense_Mutation_p.R238Q|CACNA1G_ENST00000510115.1_Missense_Mutation_p.R238Q|CACNA1G_ENST00000510366.1_Missense_Mutation_p.R238Q|CACNA1G_ENST00000507336.1_Missense_Mutation_p.R238Q|CACNA1G_ENST00000442258.2_Missense_Mutation_p.R238Q|CACNA1G_ENST00000507896.1_Missense_Mutation_p.R238Q|CACNA1G_ENST00000359106.5_Missense_Mutation_p.R238Q|CACNA1G_ENST00000507510.2_Missense_Mutation_p.R238Q|CACNA1G_ENST00000507609.1_Missense_Mutation_p.R238Q|CACNA1G_ENST00000514079.1_Missense_Mutation_p.R238Q|CACNA1G_ENST00000358244.5_Missense_Mutation_p.R238Q|CACNA1G_ENST00000360761.4_Missense_Mutation_p.R238Q|CACNA1G_ENST00000429973.2_Missense_Mutation_p.R238Q|CACNA1G_ENST00000505165.1_Missense_Mutation_p.R238Q|CACNA1G_ENST00000502264.1_Missense_Mutation_p.R238Q|CACNA1G_ENST00000513689.2_Missense_Mutation_p.R238Q|CACNA1G_ENST00000515411.1_Missense_Mutation_p.R238Q|CACNA1G_ENST00000515165.1_Missense_Mutation_p.R238Q|CACNA1G_ENST00000503485.1_Missense_Mutation_p.R238Q|CACNA1G_ENST00000514717.1_Missense_Mutation_p.R238Q|CACNA1G_ENST00000514181.1_Missense_Mutation_p.R238Q	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	238					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	p.R238Q(1)		breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GGGCTGCTTCGGAACCGATGC	0.607000													7	21					0	0	0.000157383	0	0
LRRC4C	57689	broad.mit.edu	37	11	40136274	40136274	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr11:40136274C>T	ENST00000278198.2	-	2	3532	c.1569G>A	c.(1567-1569)atG>atA	p.M523I	LRRC4C_ENST00000527150.1_Missense_Mutation_p.M523I|LRRC4C_ENST00000530763.1_Missense_Mutation_p.M523I|LRRC4C_ENST00000528697.1_Missense_Mutation_p.M523I			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	523					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				TGGTAGTCTTCATGACCTCAT	0.483000													17	42					0	0	0.000566183	0	0
PAH	5053	broad.mit.edu	37	12	103288533	103288533	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr12:103288533C>T	ENST00000553106.1	-	3	804	c.332G>A	c.(331-333)cGa>cAa	p.R111Q	PAH_ENST00000551988.1_5'UTR|PAH_ENST00000307000.2_Missense_Mutation_p.R106Q	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	111					catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	CTTCTTATCTCGTGAAAGCTC	0.383000													27	60					0	0	0.000409698	0	0
ERCC4	2072	broad.mit.edu	37	16	14042072	14042072	+	Silent	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr16:14042072C>T	ENST00000311895.7	+	11	2628	c.2619C>T	c.(2617-2619)atC>atT	p.I873I		NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 4	873	Interaction with EME1 and ERCC1.		I -> V (in dbSNP:rs2020957).		double-strand break repair via homologous recombination|meiotic mismatch repair|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|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						TTAAGAACATCGCAGAATTAG	0.458000			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				11	26					0	0	0.000978159	0	0
SSTR2	6752	broad.mit.edu	37	17	71166295	71166295	+	Silent	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr17:71166295C>T	ENST00000357585.2	+	2	1206	c.837C>T	c.(835-837)tcC>tcT	p.S279S	SSTR2_ENST00000315332.2_Silent_p.S279S|RP11-143K11.5_ENST00000580671.1_RNA	NM_001050.2	NP_001041.1	P30874	SSR2_HUMAN	somatostatin receptor 2	279					digestion|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	PDZ domain binding|somatostatin receptor activity			endometrium(2)|large_intestine(5)|lung(2)|prostate(2)	11			LUSC - Lung squamous cell carcinoma(166;0.197)			ACGTTTCTTCCGTCTCCATGG	0.507000													47	20					0	0	0.000781405	0	0
AMDHD1	144193	broad.mit.edu	37	12	96356195	96356195	+	Silent	SNP	C	C	T	rs148414685		TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr12:96356195C>T	ENST00000266736.2	+	6	982	c.876C>T	c.(874-876)atC>atT	p.I292I		NM_152435.2	NP_689648.2	Q96NU7	HUTI_HUMAN	amidohydrolase domain containing 1	292					histidine catabolic process to glutamate and formamide	cytosol	imidazolonepropionase activity|metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						ATGAAGGCATCGTTGCCATGG	0.542000													12	24					0	0	0.00136819	0	0
SLC22A5	6584	broad.mit.edu	37	5	131713919	131713919	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr5:131713919C>T	ENST00000435065.2	+	2	457	c.457C>T	c.(457-459)Cct>Tct	p.P153S	SLC22A5_ENST00000245407.3_Intron			O76082	S22A5_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 5	131					positive regulation of intestinal epithelial structure maintenance|quorum sensing involved in interaction with host|sodium ion transport|sodium-dependent organic cation transport	apical plasma membrane|brush border membrane|integral to membrane	ATP binding|carnitine transporter activity|PDZ domain binding|symporter activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	TCTCTGCCTTCCTGCCCAGGT	0.502000													4	11					0	0	0.00024832	0	0
HECTD4	283450	broad.mit.edu	37	12	112667565	112667565	+	Silent	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr12:112667565G>A	ENST00000550722.1	-	41	6413	c.6018C>T	c.(6016-6018)gcC>gcT	p.A2006A	HECTD4_ENST00000377560.5_Silent_p.A1980A|HECTD4_ENST00000430131.2_Silent_p.A1730A	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		GTGCGGCAACGGCCTGGCGTG	0.498000													39	70					0	0	0.000437636	0	0
ZNF585B	92285	broad.mit.edu	37	19	37677419	37677419	+	Silent	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr19:37677419G>A	ENST00000532828.2	-	5	1271	c.1020C>T	c.(1018-1020)aaC>aaT	p.N340N	CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000531805.1_Silent_p.N285N|ZNF585B_ENST00000527838.1_3'UTR|ZNF585B_ENST00000312908.5_5'UTR	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	340					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GTGTAATGAGGTTGGAATTAT	0.398000													39	19					0	0	0.000814825	0	0
PCLO	27445	broad.mit.edu	37	7	82387996	82387996	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr7:82387996T>A	ENST00000333891.8	-	25	15661	c.15324A>T	c.(15322-15324)aaA>aaT	p.K5108N		NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	5031					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TCAAGGTCTTTTTCATAAACT	0.333000													30	61					0	0	0.00106085	0	0
FBLN7	129804	broad.mit.edu	37	2	112942913	112942913	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr2:112942913C>T	ENST00000331203.2	+	7	1215	c.944C>T	c.(943-945)cCa>cTa	p.P315L	FBLN7_ENST00000409903.1_Missense_Mutation_p.P315L|FBLN7_ENST00000409450.3_Missense_Mutation_p.P269L|FBLN7_ENST00000409667.3_Missense_Mutation_p.P181L	NM_001128165.1|NM_153214.2	NP_001121637.1|NP_694946.2	Q53RD9	FBLN7_HUMAN	fibulin 7	315	EGF-like 3; calcium-binding (Potential).				cell adhesion	proteinaceous extracellular matrix	calcium ion binding|heparin binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						AAGACGTCTCCATTGTGAGTA	0.587000													9	23					0	0	0.000442599	0	0
KIAA0930	23313	broad.mit.edu	37	22	45593793	45593793	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr22:45593793G>A	ENST00000336156.4	-	9	1117	c.1052C>T	c.(1051-1053)tCc>tTc	p.S351F	KIAA0930_ENST00000443310.3_Missense_Mutation_p.S333F|KIAA0930_ENST00000251993.7_Missense_Mutation_p.S356F|KIAA0930_ENST00000474515.1_5'UTR|KIAA0930_ENST00000391627.2_Missense_Mutation_p.S317F	NM_001009880.1	NP_001009880.1	Q6ICG6	K0930_HUMAN	KIAA0930	351							protein binding			endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|urinary_tract(1)	15						GCCCGACAGGGACCGAGACCG	0.607000													21	62					0	0	0.00047179	0	0
OR13D1	286365	broad.mit.edu	37	9	107457101	107457101	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr9:107457101G>A	ENST00000318763.5	+	1	442	c.399G>A	c.(397-399)atG>atA	p.M133I		NM_001004484.1	NP_001004484.1	Q8NGV5	O13D1_HUMAN	olfactory receptor, family 13, subfamily D, member 1	133					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2)	19						CTCTGCAGATGGTTGTGTCCC	0.483000													34	41					0	0	0.00128727	0	0
COL24A1	255631	broad.mit.edu	37	1	86515855	86515855	+	Silent	SNP	A	A	G			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr1:86515855A>G	ENST00000370571.2	-	11	2223	c.1857T>C	c.(1855-1857)ttT>ttC	p.F619F	COL24A1_ENST00000436319.1_Silent_p.F619F	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	619					cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		GAGAGCCAATAAAACCCTTAA	0.343000													26	65					0	0	0.000339439	0	0
PKD1L2	114780	broad.mit.edu	37	16	81211412	81211412	+	Splice_Site	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr16:81211412C>T	ENST00000599697.1	-	14	2436	c.2437_splice	c.e14+1	p.G813_splice	PKD1L2_ENST00000337114.4_RNA|PKD1L2_ENST00000533478.1_RNA|PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000527937.1_RNA|PKD1L2_ENST00000531391.1_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2	813	REJ.				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CAGCCGGTACCTGATTCCAGA	0.567000													20	36					0	0	0.000586117	0	0
PCDHGA3	56112	broad.mit.edu	37	5	140725829	140725829	+	Silent	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr5:140725829G>A	ENST00000253812.6	+	1	2229	c.2229G>A	c.(2227-2229)gcG>gcA	p.A743A	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGTGGGCGCGGACGGGGTTC	0.667000													11	25					0	0	0.000673444	0	0
KLF12	11278	broad.mit.edu	37	13	74420329	74420329	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr13:74420329G>A	ENST00000377669.2	-	3	331	c.305C>T	c.(304-306)tCc>tTc	p.S102F	KLF12_ENST00000472022.1_5'UTR|KLF12_ENST00000377666.4_Missense_Mutation_p.S102F	NM_007249.4	NP_009180.3	Q9Y4X4	KLF12_HUMAN	Kruppel-like factor 12	102					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16		Prostate(6;0.00217)|Breast(118;0.0838)		GBM - Glioblastoma multiforme(99;0.00677)		TGCTGTCATGGAAACTGGGGA	0.468000													19	27					0	0	0.00152264	0	0
C5	727	broad.mit.edu	37	9	123739166	123739166	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr9:123739166G>A	ENST00000223642.1	-	29	3705	c.3676C>T	c.(3676-3678)Cgt>Tgt	p.R1226C		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	1226					activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	TTCCAAAAACGATAAATGGGT	0.363000													13	19					0	0	0.00185496	0	0
PODN	127435	broad.mit.edu	37	1	53535824	53535824	+	Silent	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr1:53535824C>T	ENST00000371500.3	+	4	725	c.384C>T	c.(382-384)aaC>aaT	p.N128N	PODN_ENST00000312553.5_Silent_p.N147N|PODN_ENST00000395871.2_Silent_p.N147N|RP11-334A14.5_ENST00000447867.1_RNA	NM_001199080.1	NP_001186009.1	Q7Z5L7	PODN_HUMAN	podocan	99					negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						AGCACACCAACCACCTATCTC	0.627000													15	23					0	0	0.00121646	0	0
TDRD10	126668	broad.mit.edu	37	1	154480940	154480940	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr1:154480940C>T	ENST00000368482.4	+	4	962	c.124C>T	c.(124-126)Cca>Tca	p.P42S	TDRD10_ENST00000368480.3_Missense_Mutation_p.P42S	NM_001098475.1|NM_182499.3	NP_001091945.1|NP_872305.3	Q5VZ19	TDR10_HUMAN	tudor domain containing 10	42	RRM.						nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			TGGCAATCTTCCACTGGATAT	0.393000													38	66					0	0	0.000437636	0	0
ACKR3	57007	broad.mit.edu	37	2	237490141	237490141	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr2:237490141G>A	ENST00000272928.3	+	2	1343	c.1033G>A	c.(1033-1035)Gat>Aat	p.D345N		NM_020311.2	NP_064707.1			atypical chemokine receptor 3																		CAAGCTCATCGATGCCTCCAG	0.522000													12	8					0	0	0.000308642	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21036537	21036537	+	Splice_Site	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr12:21036537G>A	ENST00000381545.3	+	13	1901		c.e13+1		LST3_ENST00000540229.1_Splice_Site|LST3_ENST00000381541.3_Intron|SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000553473.1_Splice_Site|SLCO1B3_ENST00000261196.2_Splice_Site	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3						bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					TGACTGTGAAGTAAGTATGAT	0.313000													26	57					0	0	0.000878237	0	0
FLG	2312	broad.mit.edu	37	1	152275373	152275373	+	Missense_Mutation	SNP	C	C	T	rs141947562		TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr1:152275373C>T	ENST00000368799.1	-	3	12024	c.11989G>A	c.(11989-11991)Gga>Aga	p.G3997R	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3997					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)			CTAACACTTCCGTGCTGAGAG	0.398000									Ichthyosis				20	62					0	0	0.000958276	0	0
UMODL1	89766	broad.mit.edu	37	21	43543040	43543040	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr21:43543040C>T	ENST00000400427.1	+	16	3491	c.3095C>T	c.(3094-3096)cCc>cTc	p.P1032L	UMODL1_ENST00000408910.2_Missense_Mutation_p.P976L|UMODL1_ENST00000400424.1_Missense_Mutation_p.P904L|UMODL1_ENST00000400423.2_3'UTR|UMODL1_ENST00000408989.2_Missense_Mutation_p.P1104L	NM_001199527.1	NP_001186456.1	Q5DID0	UROL1_HUMAN	uromodulin-like 1	976	ZP.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						AGCCCCACCCCCCAAGGCCTG	0.637000													10	8					0	0	0.000978159	0	0
RNF103	7844	broad.mit.edu	37	2	86831059	86831059	+	Silent	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr2:86831059G>A	ENST00000237455.4	-	4	2933	c.1965C>T	c.(1963-1965)ggC>ggT	p.G655G	RNF103-CHMP3_ENST00000604011.1_Intron|AC015971.2_ENST00000597638.1_RNA|CHMP3_ENST00000439940.2_Intron|AC015971.2_ENST00000439077.1_RNA	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN	ring finger protein 103	655					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						AACAATGTCGGCCCCCAGCCA	0.448000													21	13					0	0	0.00152264	0	0
AXIN1	8312	broad.mit.edu	37	16	338172	338172	+	Silent	SNP	G	G	A	rs149865527		TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr16:338172G>A	ENST00000262320.3	-	11	2910	c.2539C>T	c.(2539-2541)Ctg>Ttg	p.L847L	AXIN1_ENST00000354866.3_Silent_p.L811L	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	847	DIX.				activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				AAGACGGGCAGGACGGCCTCG	0.607000													20	52					0	0	0.00152264	0	0
AGTR1	185	broad.mit.edu	37	3	148458955	148458955	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr3:148458955G>A	ENST00000542281.1	+	4	579	c.133G>A	c.(133-135)Gga>Aga	p.G45R	AGTR1_ENST00000402260.1_Missense_Mutation_p.G45R|AGTR1_ENST00000404754.2_Missense_Mutation_p.G45R|AGTR1_ENST00000474935.1_Missense_Mutation_p.G45R|AGTR1_ENST00000497524.1_Missense_Mutation_p.G45R|AGTR1_ENST00000475347.1_Missense_Mutation_p.G45R|AGTR1_ENST00000461609.1_Missense_Mutation_p.G45R|AGTR1_ENST00000418473.2_Missense_Mutation_p.G45R|AGTR1_ENST00000349243.3_Missense_Mutation_p.G45R	NM_031850.3	NP_114038.4	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	45					calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	GGGAATATTTGGAAACAGCTT	0.353000													26	99					0	0	0.00106085	0	0
CFHR3	10878	broad.mit.edu	37	1	196759338	196759338	+	Silent	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr1:196759338G>A	ENST00000367425.4	+	5	869	c.777G>A	c.(775-777)tcG>tcA	p.S259S	CFHR3_ENST00000391985.3_Silent_p.S198S	NM_021023.5	NP_066303.2			complement factor H-related 3											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18						GAGAGTGGTCGGAACCACCAA	0.358000													14	60					0	0	0.00127121	0	0
OR51E2	81285	broad.mit.edu	37	11	4703390	4703390	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr11:4703390C>T	ENST00000396950.3	-	2	791	c.552G>A	c.(550-552)atG>atA	p.M184I		NM_030774.3	NP_110401.1	Q9H255	O51E2_HUMAN	olfactory receptor, family 51, subfamily E, member 2	184					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M184I(1)		NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		AGGCCAACTTCATTACATCCT	0.498000													24	56					0	0	0.000586117	0	0
CXorf36	79742	broad.mit.edu	37	X	45051054	45051054	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chrX:45051054T>A	ENST00000398000.2	-	2	514	c.440A>T	c.(439-441)aAa>aTa	p.K147I	RP11-342D14.1_ENST00000450527.1_RNA|CXorf36_ENST00000377934.4_Missense_Mutation_p.K147I|RP11-342D14.1_ENST00000438181.1_RNA|CXorf36_ENST00000477281.1_Intron	NM_176819.3	NP_789789.2	Q9H7Y0	CX036_HUMAN	chromosome X open reading frame 36	147						extracellular region				endometrium(1)|large_intestine(2)|lung(4)	7						CCTCTCTGTTTTCCGCAGGAC	0.547000													35	18					0	0	0.00058488	0	0
KRT25	147183	broad.mit.edu	37	17	38911230	38911230	+	Silent	SNP	A	A	G			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr17:38911230A>G	ENST00000312150.4	-	1	354	c.294T>C	c.(292-294)caT>caC	p.H98H		NM_181534.3	NP_853512.1	Q7Z3Z0	K1C25_HUMAN	keratin 25	98	Coil 1A.|Rod.					cytoplasm|intermediate filament	structural molecule activity			endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				CCTCCAGAGCATGCACACTGT	0.547000													21	68					0	0	0.000295444	0	0
DSC3	1825	broad.mit.edu	37	18	28602456	28602456	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr18:28602456C>T	ENST00000434452.1	-	7	942	c.788G>A	c.(787-789)gGg>gAg	p.G263E	DSC3_ENST00000360428.4_Missense_Mutation_p.G263E	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3	263	Cadherin 2.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			ACAAACCACCCCCACTGTAGT	0.383000													14	26					0	0	0.000566183	0	0
STXBP5L	9515	broad.mit.edu	37	3	120876453	120876453	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr3:120876453T>A	ENST00000273666.6	+	9	1127	c.856T>A	c.(856-858)Ttc>Atc	p.F286I	STXBP5L_ENST00000471454.1_Missense_Mutation_p.F286I|STXBP5L_ENST00000497029.1_Missense_Mutation_p.F286I|STXBP5L_ENST00000472879.1_Missense_Mutation_p.F286I|STXBP5L_ENST00000492541.1_Missense_Mutation_p.F286I	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	286					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		AAGTCGCCCTTTCCAGACCAC	0.408000													12	50					0	0	0.00136819	0	0
KIAA1210	57481	broad.mit.edu	37	X	118222854	118222854	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chrX:118222854G>A	ENST00000402510.2	-	11	2338	c.2339C>T	c.(2338-2340)tCc>tTc	p.S780F		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	780										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						TGAATCTGAGGAGACTTCTTC	0.473000													15	10					0	0	0.000958276	0	0
IGHG3	3502	broad.mit.edu	37	14	106236839	106236839	+	RNA	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr14:106236839G>A	ENST00000390551.2	-	0	368																											GGGCACGGGGGAGGTGTGTCA	0.642000													36	71					0	0	0.00111076	0	0
NSUN7	79730	broad.mit.edu	37	4	40776887	40776887	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr4:40776887G>A	ENST00000381782.2	+	6	1240	c.745G>A	c.(745-747)Gat>Aat	p.D249N	NSUN7_ENST00000316607.5_Missense_Mutation_p.D249N|NSUN7_ENST00000463952.1_3'UTR	NM_024677.4	NP_078953.3			NOP2/Sun domain family, member 7											NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						ACATTGCTATGATGTCTTAAT	0.254000													23	52					0	0	0.00188189	0	0
LRG1	116844	broad.mit.edu	37	19	4538804	4538804	+	Silent	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr19:4538804G>A	ENST00000306390.6	-	2	652	c.192C>T	c.(190-192)ggC>ggT	p.G64G	LRG1_ENST00000586883.1_5'UTR|CTB-50L17.14_ENST00000586020.1_Intron	NM_052972.2	NP_443204.1	P02750	A2GL_HUMAN	leucine-rich alpha-2-glycoprotein 1	64			G -> S (in dbSNP:rs7251081).			extracellular region|membrane				NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGGCAGGTAGCCGGGGATTT	0.627000													14	27					0	0	0.000566183	0	0
ROS1	6098	broad.mit.edu	37	6	117715509	117715509	+	Splice_Site	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr6:117715509C>T	ENST00000368508.3	-	10	1178	c.979_splice	c.e10-1	p.G327_splice	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Splice_Site_p.G336_splice	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	327					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		AACAGATATTCCTAGAAGAGC	0.343000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								8	25					0	0	0.000442599	0	0
PIWIL2	55124	broad.mit.edu	37	8	22175705	22175705	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr8:22175705C>T	ENST00000356766.6	+	20	2468	c.2320C>T	c.(2320-2322)Cgg>Tgg	p.R774W	PIWIL2_ENST00000521356.1_Missense_Mutation_p.R774W|PIWIL2_ENST00000454009.2_Missense_Mutation_p.R774W	NM_018068.3	NP_060538.2	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	774	Piwi.				DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		ATGGTATTCCCGGGTGGTGTT	0.493000													51	87					0	0	0.000781405	0	0
CCDC9	26093	broad.mit.edu	37	19	47767923	47767923	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr19:47767923G>A	ENST00000221922.6	+	6	748	c.526G>A	c.(526-528)Gag>Aag	p.E176K		NM_015603.2	NP_056418.1	Q9Y3X0	CCDC9_HUMAN	coiled-coil domain containing 9	176										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	12		all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114)		OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183)		GAAGATCGCCGAGTATGAGCG	0.647000													5	1					0	0	0.00116845	0	0
SLC13A1	6561	broad.mit.edu	37	7	122821124	122821124	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr7:122821124A>G	ENST00000194130.2	-	2	170	c.131T>C	c.(130-132)gTc>gCc	p.V44A	SLC13A1_ENST00000539873.1_5'UTR	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	44			V -> I (in dbSNP:rs28364177).			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)	AAATGTGGCGACCACAAAGAG	0.428000													19	58					0	0	0.00188189	0	0
FAT3	120114	broad.mit.edu	37	11	92531315	92531315	+	Silent	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr11:92531315G>A	ENST00000298047.6	+	9	5153	c.5136G>A	c.(5134-5136)ggG>ggA	p.G1712G	FAT3_ENST00000409404.2_Silent_p.G1712G|FAT3_ENST00000525166.1_Silent_p.G1562G			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1712	Cadherin 15.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ACATTAATGGGATCTTTACCA	0.393000										TCGA Ovarian(4;0.039)			419	347					0	0	0.000781405	0	0
ATP2B2	491	broad.mit.edu	37	3	10400474	10400474	+	Silent	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr3:10400474G>A	ENST00000397077.1	-	13	2477	c.1902C>T	c.(1900-1902)ttC>ttT	p.F634F	ATP2B2_ENST00000360273.2_Silent_p.F679F|ATP2B2_ENST00000383800.4_Silent_p.F634F|ATP2B2_ENST00000343816.4_Silent_p.F665F|ATP2B2_ENST00000352432.4_Silent_p.F679F			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	679					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						GGCTGCTGGGGAAGTCGCGGT	0.632000													3	6					0	0	6.4e-05	0	0
HNRNPF	3185	broad.mit.edu	37	10	43882742	43882742	+	Silent	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr10:43882742G>A	ENST00000443950.2	-	3	1077	c.591C>T	c.(589-591)ccC>ccT	p.P197P	HNRNPF_ENST00000357065.4_Silent_p.P197P|HNRNPF_ENST00000356053.3_Silent_p.P197P|HNRNPF_ENST00000544000.1_Silent_p.P197P|HNRNPF_ENST00000337970.3_Silent_p.P197P	NM_001098208.1	NP_001091678.1	P52597	HNRPF_HUMAN	heterogeneous nuclear ribonucleoprotein F	197					regulation of RNA splicing	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|urinary_tract(1)	19						ACTTCAGAGGGGGATCTGAGT	0.562000													23	35					0	0	0.000586117	0	0
AP4B1	10717	broad.mit.edu	37	1	114442506	114442506	+	Silent	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr1:114442506G>A	ENST00000369566.3	-	3	1000	c.855C>T	c.(853-855)ttC>ttT	p.F285F	AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000369569.1_Intron|AP4B1_ENST00000369567.1_Intron|AP4B1_ENST00000256658.4_Intron			Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	0					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCTCAAGAAGGAAAAGGAGCA	0.502000													44	100					0	0	0.000781405	0	0
VTA1	51534	broad.mit.edu	37	6	142468497	142468497	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr6:142468497C>T	ENST00000367630.4	+	1	131	c.73C>T	c.(73-75)Cag>Tag	p.Q25*	VTA1_ENST00000452973.2_5'UTR|VTA1_ENST00000367621.1_5'UTR	NM_016485.3	NP_057569.2	Q9NP79	VTA1_HUMAN	vesicle (multivesicular body) trafficking 1	25	Interaction with CHMP5.|Interaction with IST1.				cellular membrane organization|endosome transport|protein transport	cytosol|endosome membrane	protein binding			endometrium(2)|large_intestine(1)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182)		GAGGACGGCTCAGGAGCATGA	0.577000											OREG0017699	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	14					0	0	0.000978159	0	0
HYDIN	54768	broad.mit.edu	37	16	70926427	70926427	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr16:70926427G>A	ENST00000393567.2	-	56	9404	c.9254C>T	c.(9253-9255)tCc>tTc	p.S3085F		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3085										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AGAGTCCACGGAAAAGCTGAA	0.448000													11	28					0	0	0.00185496	0	0
FARS2	10667	broad.mit.edu	37	6	5545501	5545501	+	Silent	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr6:5545501C>T	ENST00000324331.6	+	5	1329	c.993C>T	c.(991-993)ctC>ctT	p.L331L	FARS2_ENST00000274680.4_Silent_p.L331L			O95363	SYFM_HUMAN	phenylalanyl-tRNA synthetase 2, mitochondrial	331					phenylalanyl-tRNA aminoacylation|tRNA processing	mitochondrial matrix|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|stomach(2)	15	Ovarian(93;0.11)	all_hematologic(90;0.0104)			L-Phenylalanine(DB00120)	ATATCCGTCTCTTCTGGTGTG	0.473000													51	99					0	0	0.000781405	0	0
SLC16A3	9123	broad.mit.edu	37	17	80196777	80196777	+	Silent	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr17:80196777G>A	ENST00000581287.1	+	4	3645	c.1323G>A	c.(1321-1323)cgG>cgA	p.R441R	SLC16A3_ENST00000392339.1_Silent_p.R441R|SLC16A3_ENST00000392341.1_Silent_p.R441R|SLC16A3_ENST00000582743.1_Silent_p.R441R	NM_001206951.1|NM_001206952.1	NP_001193880.1|NP_001193881.1	O15427	MOT4_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 3	441					blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	actin cytoskeleton|integral to plasma membrane|membrane fraction|nuclear membrane	secondary active monocarboxylate transmembrane transporter activity|symporter activity			endometrium(2)|kidney(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	Breast(20;0.00285)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0149)		Pyruvic acid(DB00119)	TGGACTTGCGGGAGGTGGAGC	0.627000													23	72					0	0	0.000720815	0	0
MUC16	94025	broad.mit.edu	37	19	9075170	9075170	+	Silent	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr19:9075170G>A	ENST00000397910.4	-	3	12479	c.12276C>T	c.(12274-12276)atC>atT	p.I4092I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4094	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						GCATAGCAAGGATCATTCCTC	0.527000													16	30					0	0	0.000308642	0	0
REG1B	5968	broad.mit.edu	37	2	79313602	79313602	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr2:79313602T>C	ENST00000305089.3	-	4	292	c.212A>G	c.(211-213)aAc>aGc	p.N71S		NM_006507.3	NP_006498.1	P48304	REG1B_HUMAN	regenerating islet-derived 1 beta	71	C-type lectin.				cell proliferation	extracellular region	sugar binding			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	51						AGACACCAGGTTGCCTGAATT	0.517000													14	26					0	0	0.000422831	0	0
MDGA1	266727	broad.mit.edu	37	6	37618128	37618128	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr6:37618128C>T	ENST00000434837.2	-	8	2544	c.1366G>A	c.(1366-1368)Gga>Aga	p.G456R	MDGA1_ENST00000505425.1_Missense_Mutation_p.G456R|MDGA1_ENST00000297153.7_Missense_Mutation_p.G456R	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	456	Ig-like 5.				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						GCAGGCGATCCCTCGCGCACG	0.687000													5	2					0	0	8.12818e-05	0	0
FAM133A	286499	broad.mit.edu	37	X	92964700	92964700	+	Silent	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chrX:92964700G>A	ENST00000538690.1	+	5	843	c.282G>A	c.(280-282)aaG>aaA	p.K94K	FAM133A_ENST00000322139.4_Silent_p.K94K|FAM133A_ENST00000355813.5_Silent_p.K94K|FAM133A_ENST00000332647.4_Silent_p.K94K	NM_001171110.1	NP_001164581.1	Q8N9E0	F133A_HUMAN	family with sequence similarity 133, member A	94	Lys-rich.|Ser-rich.									breast(2)|endometrium(2)|large_intestine(8)|lung(7)|upper_aerodigestive_tract(1)	20						gagaaagaaagaaaaagagaa	0.323000													17	18					0	0	0.000566183	0	0
THBS3	7059	broad.mit.edu	37	1	155168388	155168388	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr1:155168388C>T	ENST00000368378.3	-	17	1906	c.1886G>A	c.(1885-1887)gGg>gAg	p.G629E	THBS3_ENST00000487250.1_5'UTR|RP11-263K19.4_ENST00000454348.1_RNA|THBS3_ENST00000541990.1_Missense_Mutation_p.G158E|THBS3_ENST00000428962.2_3'UTR|RP11-263K19.4_ENST00000436772.1_RNA|RP11-263K19.4_ENST00000453136.1_RNA|THBS3_ENST00000541576.1_Missense_Mutation_p.G26E|RP11-263K19.4_ENST00000447623.1_RNA|THBS3_ENST00000457183.2_Missense_Mutation_p.G509E	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3	629					cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity			breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			ATGCCCATCCCCATCGCTAAT	0.512000													11	62					0	0	0.00185496	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33649018	33649018	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr5:33649018G>A	ENST00000504830.1	-	9	1723	c.1388C>T	c.(1387-1389)tCc>tTc	p.S463F	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.S463F	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	463					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						AATGACCTTGGACTTCAAGCC	0.458000										HNSCC(64;0.19)			16	52					0	0	0.000422831	0	0
UNC13C	440279	broad.mit.edu	37	15	54556412	54556412	+	Silent	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr15:54556412G>A	ENST00000545554.1	+	8	3495	c.3495G>A	c.(3493-3495)caG>caA	p.Q1165Q	UNC13C_ENST00000537900.1_Silent_p.Q1163Q|UNC13C_ENST00000260323.11_Silent_p.Q1165Q			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1165					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		ACAAGACTCAGACCATTATTA	0.378000													7	10					0	0	0.000157383	0	0
NPW	283869	broad.mit.edu	37	16	2070553	2070553	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr16:2070553C>T	ENST00000329610.4	+	2	813	c.431C>T	c.(430-432)tCc>tTc	p.S144F	NPW_ENST00000566435.1_Missense_Mutation_p.S92F	NM_001099456.2	NP_001092926.2	Q8N729	NPW_HUMAN	neuropeptide W	144					feeding behavior|neuropeptide signaling pathway	extracellular region				kidney(1)	1						AGAGACGTCTCCCGCCCAGCG	0.731000													12	16					0	0	0.000308642	0	0
PCLO	27445	broad.mit.edu	37	7	82546062	82546062	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr7:82546062G>A	ENST00000423517.2	-	7	11577	c.11240C>T	c.(11239-11241)tCc>tTc	p.S3747F	PCLO_ENST00000437081.1_Missense_Mutation_p.S467F|PCLO_ENST00000333891.8_Missense_Mutation_p.S3747F	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3678					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CCTTCTCCTGGAAACTGTGCC	0.468000													26	50					0	0	0.000720815	0	0
IGHV3-30	28439	broad.mit.edu	37	14	106791139	106791139	+	RNA	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr14:106791139C>T	ENST00000390613.2	-	0	296																											TTACTTCCATCATATGATATA	0.512000													23	175					0	0	0.00188189	0	0
MAPK4	5596	broad.mit.edu	37	18	48190586	48190586	+	Silent	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr18:48190586C>T	ENST00000400384.2	+	2	1294	c.258C>T	c.(256-258)ccC>ccT	p.P86P	MAPK4_ENST00000592595.1_Silent_p.P86P|MAPK4_ENST00000540640.1_Intron|MAPK4_ENST00000588540.1_Silent_p.P86P	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	86	Protein kinase.				cell cycle		ATP binding|MAP kinase activity			lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		TGCTCGGTCCCAAGGGCACTG	0.602000													17	26					0	0	0.00074312	0	0
NRG1	3084	broad.mit.edu	37	8	32505725	32505725	+	Silent	SNP	T	T	C			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr8:32505725T>C	ENST00000520502.2	+	1	489	c.489T>C	c.(487-489)gtT>gtC	p.V163V	NRG1_ENST00000287840.5_Intron|NRG1_ENST00000287845.5_Intron|NRG1_ENST00000523079.1_Intron|NRG1_ENST00000338921.4_Intron|NRG1_ENST00000287842.3_Intron|NRG1_ENST00000405005.2_Intron|NRG1_ENST00000521670.1_Intron|NRG1_ENST00000356819.4_Intron|NRG1_ENST00000341377.5_Intron|NRG1_ENST00000520407.1_Intron|NRG1_ENST00000519301.1_Intron	NM_013959.3	NP_039253.1	Q02297	NRG1_HUMAN	neuregulin 1	0					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		ACAAGGCTGTTGTCTCCTTTG	0.522000													21	45					0	0	0.000375601	0	0
MTUS2	23281	broad.mit.edu	37	13	29933429	29933429	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr13:29933429G>A	ENST00000431530.3	+	6	3024	c.2966G>A	c.(2965-2967)cGa>cAa	p.R989Q		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	979	Localization to the growing distal tip of microtubules.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						GCGGCAGCTCGAAATGGGTTT	0.587000													4	8					0	0	0.000602214	0	0
FNDC3B	64778	broad.mit.edu	37	3	171965529	171965529	+	Silent	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr3:171965529C>T	ENST00000336824.4	+	5	570	c.471C>T	c.(469-471)ccC>ccT	p.P157P	FNDC3B_ENST00000416957.1_Silent_p.P157P|FNDC3B_ENST00000415807.2_Silent_p.P157P	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	157						endoplasmic reticulum|integral to membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		AGTTTTTTCCCCAGCATCATC	0.463000													16	43					0	0	0.000566183	0	0
LRRC16B	90668	broad.mit.edu	37	14	24528491	24528491	+	Silent	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr14:24528491C>T	ENST00000342740.5	+	21	1793	c.1639C>T	c.(1639-1641)Ctg>Ttg	p.L547L	LRRC16B_ENST00000334420.7_5'UTR	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	547										breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		CCTGCAGTCACTGTCGGTGGC	0.647000													5	16					0	0	0.000157383	0	0
COMP	1311	broad.mit.edu	37	19	18897086	18897086	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr19:18897086C>T	ENST00000542601.2	-	11	1560	c.1171G>A	c.(1171-1173)Gac>Aac	p.D391N	COMP_ENST00000425807.1_Missense_Mutation_p.D371N|COMP_ENST00000222271.2_Missense_Mutation_p.D424N			P49747	COMP_HUMAN	cartilage oligomeric matrix protein	424			PNSD -> V (in PSACH).		anti-apoptosis|apoptosis|cell adhesion|limb development	extracellular space|proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent|heparan sulfate proteoglycan binding|heparin binding			breast(6)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						CCCACAAAGTCGTGGTCCACA	0.592000													9	23					0	0	0.000673444	0	0
UNC13C	440279	broad.mit.edu	37	15	54919201	54919201	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr15:54919201G>A	ENST00000545554.1	+	32	6535	c.6535G>A	c.(6535-6537)Gaa>Aaa	p.E2179K	UNC13C_ENST00000537900.1_Missense_Mutation_p.E2177K|UNC13C_ENST00000539562.2_Missense_Mutation_p.E100K|UNC13C_ENST00000260323.11_Missense_Mutation_p.E2179K			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	2179					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CTCTATGGATGAAACTGGTTT	0.383000													10	42					0	0	0.000673444	0	0
ADPRHL1	113622	broad.mit.edu	37	13	114083342	114083342	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr13:114083342G>A	ENST00000356501.4	-	4	500	c.325C>T	c.(325-327)Cag>Tag	p.Q109*	ADPRHL1_ENST00000375418.3_Nonsense_Mutation_p.Q191*	NM_199162.1	NP_954631.1	Q8NDY3	ARHL1_HUMAN	ADP-ribosylhydrolase like 1	191					protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	11	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116)			CTCCCCCACTGGACCAGGGGC	0.667000													10	8					0	0	0.000442599	0	0
PGBD1	84547	broad.mit.edu	37	6	28268797	28268797	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr6:28268797G>C	ENST00000405948.2	+	7	1586	c.1166G>C	c.(1165-1167)aGt>aCt	p.S389T	PGBD1_ENST00000259883.3_Missense_Mutation_p.S389T	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	389					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						CCAGAAAAGAGTTGGACCAAA	0.428000													30	50					0	0	0.00106085	0	0
CDH18	1016	broad.mit.edu	37	5	19473568	19473568	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr5:19473568C>T	ENST00000507958.1	-	15	3130	c.2140G>A	c.(2140-2142)Gaa>Aaa	p.E714K	CDH18_ENST00000510297.1_5'UTR|CDH18_ENST00000382275.1_Missense_Mutation_p.E714K|CDH18_ENST00000274170.4_Missense_Mutation_p.E714K			Q13634	CAD18_HUMAN	cadherin 18, type 2	714					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TTAATAAATTCCTGAACATCT	0.493000													16	31					0	0	0.000422831	0	0
OR4A47	403253	broad.mit.edu	37	11	48510813	48510813	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr11:48510813C>T	ENST00000446524.1	+	1	545	c.469C>T	c.(469-471)Caa>Taa	p.Q157*		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	157					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						CTCAGTATTTCAACTTAGCAT	0.433000													21	38					0	0	0.00152264	0	0
RBPJL	11317	broad.mit.edu	37	20	43936799	43936799	+	Silent	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr20:43936799C>T	ENST00000343694.3	+	2	111	c.39C>T	c.(37-39)ccC>ccT	p.P13P	RBPJL_ENST00000372743.1_Silent_p.P13P|MATN4_ENST00000353917.5_Intron|RBPJL_ENST00000372741.3_Silent_p.P13P|MATN4_ENST00000537548.1_Intron|MATN4_ENST00000372751.4_Intron|MATN4_ENST00000360607.5_Intron|MATN4_ENST00000342716.4_Intron	NM_014276.2	NP_055091.2	Q9UBG7	RBPJL_HUMAN	recombination signal binding protein for immunoglobulin kappa J region-like	13					signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				CAGTGCCTCCCAATCCTTTGA	0.592000													13	25					0	0	0.000219431	0	0
PDE1C	5137	broad.mit.edu	37	7	31848648	31848648	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr7:31848648C>T	ENST00000396184.3	-	17	2092	c.1888G>A	c.(1888-1890)Gat>Aat	p.D630N	PDE1C_ENST00000321453.7_Missense_Mutation_p.D630N|PDE1C_ENST00000396191.1_Missense_Mutation_p.D630N|PDE1C_ENST00000396193.1_Missense_Mutation_p.D690N|PDE1C_ENST00000396182.2_Missense_Mutation_p.D630N|PDE1C_ENST00000479980.1_5'UTR	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	630					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			CTCTTACCATCTGTTTTCTTT	0.308000													11	32					0	0	0.00136819	0	0
MOV10L1	54456	broad.mit.edu	37	22	50580549	50580549	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr22:50580549G>A	ENST00000262794.5	+	16	2193	c.2110G>A	c.(2110-2112)Gag>Aag	p.E704K	MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000545383.1_Missense_Mutation_p.E704K|MOV10L1_ENST00000395858.3_Missense_Mutation_p.E704K|MOV10L1_ENST00000540615.1_Missense_Mutation_p.E684K	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)	704					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		GCATGGAACAGAGGAGAGGCG	0.478000													13	45					0	0	0.000422831	0	0
GRIN2A	2903	broad.mit.edu	37	16	10274210	10274210	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr16:10274210C>T	ENST00000396573.2	-	3	368	c.59G>A	c.(58-60)gGt>gAt	p.G20D	GRIN2A_ENST00000562109.1_Missense_Mutation_p.G20D|GRIN2A_ENST00000404927.2_Missense_Mutation_p.G20D|GRIN2A_ENST00000330684.3_Missense_Mutation_p.G20D|GRIN2A_ENST00000396575.2_Missense_Mutation_p.G20D	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	20					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CGGCGCCGGACCGCGCCAGAC	0.652000													9	14					0	0	0.000442599	0	0
SPTA1	6708	broad.mit.edu	37	1	158644451	158644451	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr1:158644451G>A	ENST00000368148.3	-	9	1307	c.1127C>T	c.(1126-1128)tCa>tTa	p.S376L	SPTA1_ENST00000368147.3_Missense_Mutation_p.S376L	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	376					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)					AAAGTCAGATGAAAATCGATG	0.453000													36	82					0	0	0.00170553	0	0
PEAK1	79834	broad.mit.edu	37	15	77471633	77471633	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr15:77471633G>A	ENST00000560626.2	-	4	3111	c.2636C>T	c.(2635-2637)cCt>cTt	p.P879L	PEAK1_ENST00000558305.1_Missense_Mutation_p.P879L|PEAK1_ENST00000312493.4_Missense_Mutation_p.P879L			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	879					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										TGCATGGTAAGGAGAAGAAGT	0.527000													25	49					0	0	0.000878237	0	0
SSPO	23145	broad.mit.edu	37	7	149489539	149489539	+	RNA	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr7:149489539C>T	ENST00000378016.2	+	0	5692							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CGGACGGCCCCGACGCTGCCG	0.697000													4	12					0	0	0.00024832	0	0
PCDHB6	56130	broad.mit.edu	37	5	140530589	140530589	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr5:140530589C>T	ENST00000231136.1	+	1	751	c.751C>T	c.(751-753)Cct>Tct	p.P251S	PCDHB6_ENST00000543635.1_Missense_Mutation_p.P115S	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		251	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGCACAAGTCCCTGAGAACAA	0.527000													9	23					0	0	0.000274275	0	0
SPEN	23013	broad.mit.edu	37	1	16257610	16257610	+	Silent	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr1:16257610G>A	ENST00000375759.3	+	11	5079	c.4875G>A	c.(4873-4875)gaG>gaA	p.E1625E		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1625					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)		CTGCTCCTGAGAATAAAGATT	0.453000													45	37					0	0	0.000781405	0	0
ATF6	22926	broad.mit.edu	37	1	161928323	161928323	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr1:161928323C>T	ENST00000367942.3	+	16	1959	c.1892C>T	c.(1891-1893)tCg>tTg	p.S631L		NM_007348.3	NP_031374.2	P18850	ATF6A_HUMAN	activating transcription factor 6	631					positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.S631L(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)			ATCAAAAGTTCGTCAGTTCCT	0.517000													26	54					0	0	0.000586117	0	0
CPA3	1359	broad.mit.edu	37	3	148600313	148600313	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr3:148600313C>T	ENST00000296046.3	+	8	761	c.709C>T	c.(709-711)Cgt>Tgt	p.R237C	RP11-680B3.2_ENST00000488190.1_RNA	NM_001870.2	NP_001861.2	P15088	CBPA3_HUMAN	carboxypeptidase A3 (mast cell)	237					proteolysis	stored secretory granule|transport vesicle	metallocarboxypeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			GAGAAAAAATCGTTCCAAGAA	0.383000													9	30					0	0	0.000978159	0	0
TAS2R4	50832	broad.mit.edu	37	7	141478788	141478788	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr7:141478788C>T	ENST00000247881.2	+	1	547	c.500C>T	c.(499-501)tCa>tTa	p.S167L	SSBP1_ENST00000465582.1_Intron	NM_016944.1	NP_058640.1	Q9NYW5	TA2R4_HUMAN	taste receptor, type 2, member 4	167					sensory perception of taste	cilium membrane	taste receptor activity			endometrium(1)|large_intestine(4)|lung(2)	7	Melanoma(164;0.0171)			BRCA - Breast invasive adenocarcinoma(188;0.196)		AATAACACATCATTTAATATC	0.428000													62	121					0	0	0.000781405	0	0
IFT122	55764	broad.mit.edu	37	3	129185821	129185821	+	Silent	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr3:129185821C>T	ENST00000296266.3	+	9	997	c.805C>T	c.(805-807)Ctg>Ttg	p.L269L	IFT122_ENST00000347300.2_Intron|IFT122_ENST00000440957.2_Intron|IFT122_ENST00000507564.1_Intron|IFT122_ENST00000431818.2_Silent_p.L68L|IFT122_ENST00000349441.2_Intron|IFT122_ENST00000348417.2_Silent_p.L218L|IFT122_ENST00000504021.1_Intron	NM_052985.2	NP_443711.2	Q9HBG6	IF122_HUMAN	intraflagellar transport 122 homolog (Chlamydomonas)	218					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						CCCTTCCACTCTGAAGTCAGC	0.498000													27	48					0	0	0.000720815	0	0
NPTX2	4885	broad.mit.edu	37	7	98254422	98254422	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr7:98254422G>A	ENST00000265634.3	+	3	997	c.832G>A	c.(832-834)Gag>Aag	p.E278K		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	278	Pentaxin.				synaptic transmission	extracellular region	metal ion binding|sugar binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			GCAGGCCAACGAGATCGTGCT	0.637000													6	31					0	0	0.00116845	0	0
NMUR2	56923	broad.mit.edu	37	5	151784009	151784009	+	Silent	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr5:151784009G>A	ENST00000255262.3	-	1	831	c.666C>T	c.(664-666)ttC>ttT	p.F222F	NMUR2_ENST00000518933.1_Intron	NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	222					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			GGTAGAATAGGAAGGAGGTGA	0.542000													21	51					0	0	0.00152264	0	0
ZNF443	10224	broad.mit.edu	37	19	12542018	12542018	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr19:12542018G>A	ENST00000301547.5	-	4	1165	c.968C>T	c.(967-969)tCc>tTc	p.S323F	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806.2	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	323					induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						TCTTTGAAGGGAACCGGAAAC	0.433000													32	64					0	0	0.000339439	0	0
UNC79	57578	broad.mit.edu	37	14	94067104	94067104	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr14:94067104C>T	ENST00000553484.1	+	25	3716	c.3562C>T	c.(3562-3564)Cct>Tct	p.P1188S	UNC79_ENST00000555664.1_Missense_Mutation_p.P1188S|UNC79_ENST00000393151.2_Missense_Mutation_p.P1188S|UNC79_ENST00000256339.4_Missense_Mutation_p.P1011S			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1188						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CAAGGAATTTCCTTTTCCTAC	0.403000													10	39					0	0	0.00136819	0	0
ZNF286A	57335	broad.mit.edu	37	17	15619927	15619927	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr17:15619927C>T	ENST00000464847.2	+	5	1442	c.889C>T	c.(889-891)Ctc>Ttc	p.L297F	ZNF286A_ENST00000413242.2_Missense_Mutation_p.L297F|ZNF286A_ENST00000421016.1_Missense_Mutation_p.L297F|ZNF286A_ENST00000395894.2_3'UTR|ZNF286A_ENST00000593105.1_Missense_Mutation_p.L287F|ZNF286A_ENST00000585171.1_Intron|ZNF286A_ENST00000583566.1_Missense_Mutation_p.L297F			Q9HBT8	Z286A_HUMAN	zinc finger protein 286A	297					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.0781)		TACTAGAATTCTCTTTGAATG	0.398000													19	41					0	0	0.000586117	0	0
CDH12	1010	broad.mit.edu	37	5	21975459	21975459	+	Silent	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr5:21975459C>T	ENST00000382254.1	-	6	1353	c.267G>A	c.(265-267)gtG>gtA	p.V89V	CDH12_ENST00000522262.1_Silent_p.V89V|CDH12_ENST00000504376.2_Silent_p.V89V	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	89	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						GGGTGTATTTCACAGTGCCCT	0.458000										HNSCC(59;0.17)			22	55					0	0	0.00047179	0	0
ENPP7	339221	broad.mit.edu	37	17	77710968	77710968	+	Silent	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr17:77710968C>T	ENST00000328313.5	+	4	1376	c.1155C>T	c.(1153-1155)gtC>gtT	p.V385V		NM_178543.3	NP_848638.2	Q6UWV6	ENPP7_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 7	385					negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			TTGAGAGCGTCCACGTGTACG	0.622000													19	18					0	0	0.00121646	0	0
CTSH	1512	broad.mit.edu	37	15	79224718	79224718	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr15:79224718G>A	ENST00000220166.5	-	6	597	c.488C>T	c.(487-489)tCc>tTc	p.S163F	CTSH_ENST00000534533.1_5'UTR	NM_004390.3	NP_004381.2	P09668	CATH_HUMAN	cathepsin H	163					protein destabilization|proteolysis	lysosome	cysteine-type endopeptidase activity			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)	10						TCTTACCAAGGACAGCATCTT	0.622000													6	17					0	0	0.000274275	0	0
PCDHB1	29930	broad.mit.edu	37	5	140433395	140433395	+	Silent	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr5:140433395C>T	ENST00000306549.3	+	1	2417	c.2340C>T	c.(2338-2340)ttC>ttT	p.F780F		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		780					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)			ACTTCCCTTTCCCTCATGCCA	0.468000													34	70					0	0	0.000692331	0	0
SNCAIP	9627	broad.mit.edu	37	5	121761124	121761124	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr5:121761124G>A	ENST00000504884.2	+	3	208	c.208G>A	c.(208-210)Ggg>Agg	p.G70R	SNCAIP_ENST00000503116.2_Silent_p.Q407Q|SNCAIP_ENST00000379533.2_Silent_p.Q407Q|SNCAIP_ENST00000379538.3_Intron|SNCAIP_ENST00000379536.2_Intron|SNCAIP_ENST00000261368.8_Silent_p.Q360Q|SNCAIP_ENST00000542191.1_Intron|SNCAIP_ENST00000261367.7_Silent_p.Q407Q|SNCAIP_ENST00000414317.2_Intron			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	0					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		CGGCGTCACAGGGACACGCAG	0.453000													39	50					0	0	0.00148497	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113519211	113519211	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr7:113519211G>A	ENST00000284601.3	-	4	2004	c.1936C>T	c.(1936-1938)Cag>Tag	p.Q646*		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	646					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						CTATTATCCTGATCTTCAGAA	0.353000													34	66					0	0	0.00058488	0	0
ATMIN	23300	broad.mit.edu	37	16	81078293	81078293	+	Silent	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr16:81078293C>T	ENST00000566488.1	+	3	2685	c.1722C>T	c.(1720-1722)tcC>tcT	p.S574S	ATMIN_ENST00000299575.4_Silent_p.S730S|ATMIN_ENST00000539819.1_3'UTR|ATMIN_ENST00000564241.1_Silent_p.S574S			O43313	ATMIN_HUMAN	ATM interactor	730					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						CCAGCTTTTCCGTGAGTACTG	0.423000													23	54					0	0	0.000375601	0	0
C1orf173	127254	broad.mit.edu	37	1	75097441	75097441	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr1:75097441G>A	ENST00000326665.5	-	7	993	c.775C>T	c.(775-777)Cgt>Tgt	p.R259C	C1orf173_ENST00000420661.2_Missense_Mutation_p.R62C	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	259	Poly-Arg.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GTGGTTGGACGAAATCTTCTC	0.363000													16	44					0	0	0.000566183	0	0
GPRC5C	55890	broad.mit.edu	37	17	72436125	72436125	+	Silent	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr17:72436125C>T	ENST00000392627.1	+	2	1471	c.345C>T	c.(343-345)atC>atT	p.I115I	GPRC5C_ENST00000392629.2_Silent_p.I82I|GPRC5C_ENST00000342648.5_Intron|GPRC5C_ENST00000481232.1_Silent_p.I115I	NM_022036.2	NP_071319.2	Q9NQ84	GPC5C_HUMAN	G protein-coupled receptor, family C, group 5, member C	70						cytoplasmic vesicle membrane|integral to plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						TCACCATCATCCTGGTGGCCA	0.632000													20	10					0	0	0.00188189	0	0
GCN1L1	10985	broad.mit.edu	37	12	120615493	120615493	+	Silent	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr12:120615493G>A	ENST00000300648.6	-	8	735	c.723C>T	c.(721-723)taC>taT	p.Y241Y		NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	241					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)					TCACCAACAGGTACTTCGGAG	0.468000													45	100					0	0	0.000781405	0	0
GNG7	2788	broad.mit.edu	37	19	2515087	2515087	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr19:2515087G>A	ENST00000382159.3	-	5	337	c.140C>T	c.(139-141)cCc>cTc	p.P47L		NM_052847.2	NP_443079.1	O60262	GBG7_HUMAN	guanine nucleotide binding protein (G protein), gamma 7	47					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	heterotrimeric G-protein complex	signal transducer activity			central_nervous_system(2)|large_intestine(1)	3		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)		GACCAGCAGGGGGTCGTTCCG	0.498000													25	79					0	0	0.00178596	0	0
DNAH11	8701	broad.mit.edu	37	7	21598537	21598537	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr7:21598537A>G	ENST00000328843.6	+	3	644	c.613A>G	c.(613-615)Aaa>Gaa	p.K205E	DNAH11_ENST00000409508.3_Missense_Mutation_p.K205E			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	205	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TTTTAGGGGCAAAATGTCTAG	0.348000									Kartagener syndrome				8	10					0	0	0.000274275	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				24	32					0	0	0.000586117	0	0
MBTD1	54799	broad.mit.edu	37	17	49278985	49278985	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr17:49278985G>A	ENST00000586178.1	-	12	1535	c.1192C>T	c.(1192-1194)Ctt>Ttt	p.L398F	MBTD1_ENST00000415868.1_Missense_Mutation_p.L398F|MBTD1_ENST00000376381.2_Missense_Mutation_p.L398F	NM_017643.2	NP_060113.2	Q05BQ5	MBTD1_HUMAN	mbt domain containing 1	398					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)			ATTGTAGAAAGATTTAATGGG	0.328000													76	94					0	0	0.000781405	0	0
RASSF9	9182	broad.mit.edu	37	12	86199417	86199417	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr12:86199417G>A	ENST00000361228.3	-	2	739	c.371C>T	c.(370-372)cCt>cTt	p.P124L		NM_005447.3	NP_005438.2	O75901	RASF9_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 9	124					endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity			endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CCGCCACAAAGGAACTGGAAG	0.438000													51	95					0	0	0.000781405	0	0
GRIN2A	2903	broad.mit.edu	37	16	9858587	9858587	+	Silent	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr16:9858587C>T	ENST00000396573.2	-	14	3123	c.2814G>A	c.(2812-2814)aaG>aaA	p.K938K	GRIN2A_ENST00000562109.1_Silent_p.K938K|GRIN2A_ENST00000404927.2_Silent_p.K938K|GRIN2A_ENST00000330684.3_Silent_p.K938K|GRIN2A_ENST00000535259.1_Silent_p.K781K|GRIN2A_ENST00000396575.2_Silent_p.K938K	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	938					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TCAAATTCCCCTTATCTGAAA	0.463000													43	81					0	0	0.000781405	0	0
DKKL1	27120	broad.mit.edu	37	19	49878174	49878174	+	Silent	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr19:49878174G>A	ENST00000221498.2	+	5	1023	c.618G>A	c.(616-618)aaG>aaA	p.K206K	AC010524.2_ENST00000599433.1_RNA|DKKL1_ENST00000594268.1_Silent_p.K64K	NM_014419.3	NP_055234.1	Q9UK85	DKKL1_HUMAN	dickkopf-like 1	206					anatomical structure morphogenesis	extracellular space	protein binding|signal transducer activity			large_intestine(2)|upper_aerodigestive_tract(1)	3		all_lung(116;1.66e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0456)		GACTCCGCAAGGGGACCCACA	0.662000													4	9					0	0	0.00024832	0	0
HERC2	8924	broad.mit.edu	37	15	28358292	28358292	+	Silent	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr15:28358292G>A	ENST00000261609.7	-	92	14265	c.14157C>T	c.(14155-14157)ttC>ttT	p.F4719F		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	4719	HECT.				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)		CGAAGCGAAGGAAAAGAGAGC	0.622000													6	22					0	0	0.00116845	0	0
TAS2R38	5726	broad.mit.edu	37	7	141673385	141673385	+	Silent	SNP	G	G	A	rs144536521		TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr7:141673385G>A	ENST00000547270.1	-	1	188	c.105C>T	c.(103-105)ttC>ttT	p.F35F		NM_176817.4	NP_789787.4	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	35					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					CCAAGAAAACGAAGGCATTGG	0.483000													14	35					0	0	0.00185496	0	0
SLC35G5	83650	broad.mit.edu	37	8	11188982	11188982	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr8:11188982C>T	ENST00000382435.4	+	1	586	c.367C>T	c.(367-369)Cag>Tag	p.Q123*		NM_054028.1	NP_473369.1	Q96KT7	AMCL2_HUMAN	solute carrier family 35, member G5	123	DUF6 1.					integral to membrane											CAGTGCAGTTCAGGTGGTGCC	0.627000													30	66					0	0	0.001512	0	0
GLYATL2	219970	broad.mit.edu	37	11	58601987	58601987	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr11:58601987C>T	ENST00000287275.1	-	6	1190	c.800G>A	c.(799-801)aGc>aAc	p.S267N	GLYATL2_ENST00000532258.1_Missense_Mutation_p.S267N	NM_145016.3	NP_659453.3	Q8WU03	GLYL2_HUMAN	glycine-N-acyltransferase-like 2	267						mitochondrion	glycine N-acyltransferase activity			breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	TGCCTGTAGGCTTTTCTCATT	0.393000													19	46					0	0	0.00121646	0	0
COL1A2	1278	broad.mit.edu	37	7	94024397	94024397	+	Silent	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr7:94024397C>T	ENST00000297268.6	+	1	525	c.54C>T	c.(52-54)tgC>tgT	p.C18C		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	18					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TAACCTTATGCCTAGCAACAT	0.517000										HNSCC(75;0.22)	OREG0018169	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	31	63					0	0	0.00111076	0	0
PLEKHA4	57664	broad.mit.edu	37	19	49362159	49362159	+	Silent	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr19:49362159G>A	ENST00000263265.6	-	8	1485	c.930C>T	c.(928-930)ccC>ccT	p.P310P	PLEKHA4_ENST00000596713.1_5'UTR|PLEKHA4_ENST00000355496.5_Silent_p.P310P	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	310	Pro-rich.					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)		GACTCCTGGGGGGCTTTCCTC	0.652000													22	48					0	0	0.00106085	0	0
SULT1C3	442038	broad.mit.edu	37	2	108881382	108881382	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr2:108881382G>A	ENST00000329106.2	+	6	723	c.723G>A	c.(721-723)atG>atA	p.M241I		NM_001008743.1	NP_001008743.1	Q6IMI6	ST1C3_HUMAN	sulfotransferase family, cytosolic, 1C, member 3	241						cytoplasm	alcohol sulfotransferase activity			breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						TTGATGTAATGAAGCAAAACC	0.398000													14	38					0	0	0.000308642	0	0
ABRA	137735	broad.mit.edu	37	8	107782366	107782366	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr8:107782366C>T	ENST00000311955.3	-	1	107	c.53G>A	c.(52-54)cGg>cAg	p.R18Q		NM_139166.4	NP_631905.1	Q8N0Z2	ABRA_HUMAN	actin-binding Rho activating protein	18					positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding			breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			GCGTATCTTCCGGAGGGCGCT	0.617000													17	27					0	0	0.00121646	0	0
OR51A4	401666	broad.mit.edu	37	11	4968009	4968009	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr11:4968009C>T	ENST00000380373.2	-	1	347	c.322G>A	c.(322-324)Gga>Aga	p.G108R	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	108					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACTGAGAATCCATGAATGAAG	0.438000													32	160					0	0	0.00058488	0	0
RYR3	6263	broad.mit.edu	37	15	33928631	33928631	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr15:33928631G>A	ENST00000389232.4	+	27	3506	c.3436G>A	c.(3436-3438)Gat>Aat	p.D1146N	RYR3_ENST00000415757.3_Missense_Mutation_p.D1146N	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1146	4 X approximate repeats.|B30.2/SPRY 2.				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)		GCAGCCAGGGGATGTGGTCGG	0.502000													58	102					0	0	0.000781405	0	0
TSR2	90121	broad.mit.edu	37	X	54469871	54469871	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chrX:54469871G>A	ENST00000375151.4	+	3	232	c.211G>A	c.(211-213)Gag>Aag	p.E71K		NM_058163.1	NP_477511.1	Q969E8	TSR2_HUMAN	TSR2, 20S rRNA accumulation, homolog (S. cerevisiae)	71					rRNA processing		protein binding			breast(1)|endometrium(3)|lung(2)	6						CTTCCTTGGAGAGCTGTTGAC	0.527000													31	19					0	0	0.000814825	0	0
ZNF681	148213	broad.mit.edu	37	19	23926712	23926712	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr19:23926712G>A	ENST00000402377.3	-	4	1781	c.1640C>T	c.(1639-1641)tCa>tTa	p.S547L	ZNF681_ENST00000395385.3_Missense_Mutation_p.S478L	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	547					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				AGCAAGATGTGAGGAATGGTT	0.393000													10	27					0	0	0.000673444	0	0
KPNA2	3838	broad.mit.edu	37	17	66038262	66038262	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr17:66038262C>T	ENST00000537025.2	+	5	984	c.364C>T	c.(364-366)Ccg>Tcg	p.P122S	KPNA2_ENST00000330459.3_Missense_Mutation_p.P122S			P52292	IMA2_HUMAN	karyopherin alpha 2 (RAG cohort 1, importin alpha 1)	122					DNA metabolic process|G2 phase of mitotic cell cycle|interspecies interaction between organisms|M phase specific microtubule process|NLS-bearing substrate import into nucleus|regulation of DNA recombination	cytoplasm|nuclear pore|nucleoplasm	histone deacetylase binding|nuclear localization sequence binding|protein transporter activity			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|kidney(2)|lung(9)|prostate(1)|urinary_tract(2)	22	all_cancers(12;1.18e-09)		BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			TGGTTTGATTCCGAAATTTGT	0.423000													53	63					0	0	0.000781405	0	0
PIGG	54872	broad.mit.edu	37	4	502697	502697	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr4:502697C>T	ENST00000453061.2	+	5	945	c.839C>T	c.(838-840)tCc>tTc	p.S280F	PIGG_ENST00000509768.1_Missense_Mutation_p.S191F|PIGG_ENST00000536264.1_Missense_Mutation_p.S158F|PIGG_ENST00000503111.1_Missense_Mutation_p.S191F|PIGG_ENST00000504346.1_Missense_Mutation_p.S191F|PIGG_ENST00000296306.7_Missense_Mutation_p.S191F|PIGG_ENST00000310340.5_Missense_Mutation_p.S280F|PIGG_ENST00000383028.4_Missense_Mutation_p.S147F	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	280					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						CACGGGGCCTCCTCCACCGAG	0.443000													4	34					0	0	0.00024832	0	0
EPB42	2038	broad.mit.edu	37	15	43500531	43500531	+	Splice_Site	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr15:43500531C>T	ENST00000300215.3	-	8	1519	c.1061_splice	c.e8-1	p.W354_splice	EPB42_ENST00000540029.1_Splice_Site_p.W246_splice|EPB42_ENST00000441366.2_Splice_Site_p.W324_splice			P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2	324					erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		TCTGGAAGATCCTGAATGCAG	0.512000													8	25					0	0	0.000274275	0	0
JAK3	3718	broad.mit.edu	37	19	17948743	17948743	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr19:17948743C>T	ENST00000458235.1	-	12	1798	c.1699G>A	c.(1699-1701)Gag>Aag	p.E567K	JAK3_ENST00000534444.1_Missense_Mutation_p.E567K|JAK3_ENST00000527670.1_Missense_Mutation_p.E567K	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN	Janus kinase 3	567	Protein kinase 1.				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						GCTCTCACCTCCATGCAGTTC	0.567000		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""								59	111					0	0	0.000781405	0	0
ZNF350	59348	broad.mit.edu	37	19	52469330	52469330	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr19:52469330G>A	ENST00000243644.4	-	5	603	c.376C>T	c.(376-378)Cat>Tat	p.H126Y	HCCAT3_ENST00000600253.1_RNA|HCCAT3_ENST00000595010.1_RNA	NM_021632.3	NP_067645.3	Q9GZX5	ZN350_HUMAN	zinc finger protein 350	126					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0179)		AATATATCATGATTTTGCCCT	0.348000													34	53					0	0	0.000814825	0	0
YWHAEP7	284100	broad.mit.edu	37	17	36214086	36214086	+	RNA	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr17:36214086C>T	ENST00000590732.1	-	0	366					NR_024178.1																						CCTGTCATTTCCTGTGGCAAA	0.388000													7	16					0	0	0.000274275	0	0
ADAM7	8756	broad.mit.edu	37	8	24350025	24350025	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr8:24350025G>A	ENST00000175238.6	+	15	1653	c.1570G>A	c.(1570-1572)Gat>Aat	p.D524N	RP11-624C23.1_ENST00000523578.1_RNA|RP11-561E1.1_ENST00000519364.1_RNA|ADAM7_ENST00000520720.1_Missense_Mutation_p.D296N|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000380789.1_Missense_Mutation_p.D524N	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	524	Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		AGAGAGTCATGATATCTGCTA	0.328000													45	89					0	0	0.000781405	0	0
TTN	7273	broad.mit.edu	37	2	179472269	179472269	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr2:179472269C>T	ENST00000589042.1	-	277	53370	c.53146G>A	c.(53146-53148)Gac>Aac	p.D17716N	TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D15148N|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D8776N|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D8651N|TTN_ENST00000591111.1_Missense_Mutation_p.D16075N|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D8843N|TTN-AS1_ENST00000589234.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16075	Fibronectin type-III 28.						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)			ACAACACGGTCTTTATCCAGC	0.428000													93	101					0	0	0.000781405	0	0
NUP153	9972	broad.mit.edu	37	6	17633028	17633028	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr6:17633028G>A	ENST00000262077.2	-	17	2511	c.2512C>T	c.(2512-2514)Cct>Tct	p.P838S	NUP153_ENST00000537253.1_Missense_Mutation_p.P869S	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	838					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			CCTCCAGAAGGCAGAGAGACA	0.438000													17	43					0	0	0.00074312	0	0
SHPRH	257218	broad.mit.edu	37	6	146231636	146231636	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr6:146231636G>A	ENST00000367503.3	-	25	4873	c.4475C>T	c.(4474-4476)tCg>tTg	p.S1492L	SHPRH_ENST00000367505.2_Missense_Mutation_p.S1488L|SHPRH_ENST00000438092.2_Missense_Mutation_p.S1492L|SHPRH_ENST00000275233.7_Missense_Mutation_p.S1488L	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	1488					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		AAAGACATACGAGATTTCTTT	0.418000													41	85					0	0	0.000589545	0	0
CRB1	23418	broad.mit.edu	37	1	197396933	197396933	+	Silent	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr1:197396933G>A	ENST00000367397.1	+	3	1479	c.621G>A	c.(619-621)aaG>aaA	p.K207K	CRB1_ENST00000544212.1_Silent_p.K307K|CRB1_ENST00000367400.3_Silent_p.K826K|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000367399.2_Silent_p.K714K|CRB1_ENST00000535699.1_Silent_p.K757K			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	826	EGF-like 5; calcium-binding (Potential).				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						AAATCGAAAAGGGAGATGTCA	0.378000													9	34					0	0	0.000274275	0	0
KRT84	3890	broad.mit.edu	37	12	52779191	52779191	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr12:52779191G>A	ENST00000257951.3	-	1	245	c.179C>T	c.(178-180)tCg>tTg	p.S60L	RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	60	Head.					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)		GGGTGAGTACGATCCAAAGGT	0.582000													12	15					0	0	0.00136819	0	0
ZNF532	55205	broad.mit.edu	37	18	56587240	56587240	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr18:56587240C>T	ENST00000336078.4	+	4	2497	c.1721C>T	c.(1720-1722)tCg>tTg	p.S574L	ZNF532_ENST00000591083.1_Missense_Mutation_p.S574L|ZNF532_ENST00000589288.1_Missense_Mutation_p.S574L|ZNF532_ENST00000591808.1_Missense_Mutation_p.S574L|ZNF532_ENST00000591230.1_Missense_Mutation_p.S574L	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	574					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						CAGGTGGTGTCGTCCTTGCAG	0.517000													4	9					0	0	0.00024832	0	0
TTN	7273	broad.mit.edu	37	2	179604789	179604789	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr2:179604789G>C	ENST00000589042.1	-	48	13395	c.13171C>G	c.(13171-13173)Cag>Gag	p.Q4391E	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Missense_Mutation_p.Q4153E|TTN_ENST00000460472.2_Missense_Mutation_p.Q4028E|TTN_ENST00000591111.1_Missense_Mutation_p.Q4074E|TTN_ENST00000342175.6_Missense_Mutation_p.Q4220E	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4074	Ig-like 24.						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)			TTTAATCTCTGCTCTTCTGGA	0.463000													18	15					0	0	0.00074312	0	0
CFH	3075	broad.mit.edu	37	1	196705994	196705994	+	Silent	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr1:196705994C>T	ENST00000367429.4	+	16	2694	c.2454C>T	c.(2452-2454)ccC>ccT	p.P818P		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	818	Sushi 14.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						CTCAGATTCCCAATTCTCACA	0.274000													27	30					0	0	0.000409698	0	0
CXCR6	10663	broad.mit.edu	37	3	45988748	45988748	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr3:45988748G>A	ENST00000458629.1	+	1	2238	c.775G>A	c.(775-777)Gaa>Aaa	p.E259K	FYCO1_ENST00000535325.1_Intron|FYCO1_ENST00000296137.2_Intron|CXCR6_ENST00000304552.4_Missense_Mutation_p.E259K|FYCO1_ENST00000438446.1_Intron|CXCR6_ENST00000457814.1_Missense_Mutation_p.E259K|CXCR6_ENST00000438735.1_Missense_Mutation_p.E259K			O00574	CXCR6_HUMAN	chemokine (C-X-C motif) receptor 6	259					viral genome replication	integral to plasma membrane	coreceptor activity			central_nervous_system(1)|endometrium(1)|kidney(3)|lung(1)|prostate(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		CACACACTGGGAATACTATGC	0.512000													12	11					0	0	0.000219431	0	0
CYP46A1	10858	broad.mit.edu	37	14	100182186	100182186	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr14:100182186G>A	ENST00000554176.1	+	3	940	c.274G>A	c.(274-276)Gag>Aag	p.E92K	CYP46A1_ENST00000261835.3_Missense_Mutation_p.E245K|CYP46A1_ENST00000423126.2_Missense_Mutation_p.E148K			Q9Y6A2	CP46A_HUMAN	cytochrome P450, family 46, subfamily A, polypeptide 1	245					bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity	p.E245K(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				GGAGGTCCGGGAGAGCATTCG	0.627000													11	27					0	0	0.000673444	0	0
GPR87	53836	broad.mit.edu	37	3	151012365	151012365	+	Silent	SNP	G	G	A	rs149315251	byFrequency	TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr3:151012365G>A	ENST00000260843.4	-	3	1133	c.669C>T	c.(667-669)atC>atT	p.I223I	MED12L_ENST00000474524.1_Intron|MED12L_ENST00000491549.1_Intron|MED12L_ENST00000273432.4_Intron	NM_023915.3	NP_076404.3	Q9BY21	GPR87_HUMAN	G protein-coupled receptor 87	223						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(6)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	19			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TGTAACATCCGATCAGAATCA	0.463000													15	60					0	0	0.000308642	0	0
RASGRP1	10125	broad.mit.edu	37	15	38808488	38808488	+	Silent	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr15:38808488C>T	ENST00000310803.5	-	6	762	c.585G>A	c.(583-585)cgG>cgA	p.R195R	RASGRP1_ENST00000559830.1_Silent_p.R195R|RASGRP1_ENST00000558164.1_Silent_p.R195R|RASGRP1_ENST00000561180.1_Silent_p.R246R|RASGRP1_ENST00000450598.2_Silent_p.R195R|RASGRP1_ENST00000539159.1_Silent_p.R147R	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 (calcium and DAG-regulated)	195					cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		GGGAGACTTTCCGTTTCTTGC	0.463000													14	42					0	0	0.00185496	0	0
BAG6	7917	broad.mit.edu	37	6	31610092	31610092	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr6:31610092G>A	ENST00000404765.2	-	16	2421	c.2132C>T	c.(2131-2133)cCt>cTt	p.P711L	BAG6_ENST00000470875.1_5'UTR|BAG6_ENST00000375964.6_Missense_Mutation_p.P681L|BAG6_ENST00000375976.4_Missense_Mutation_p.P675L|BAG6_ENST00000211379.5_Missense_Mutation_p.P675L|BAG6_ENST00000439687.2_Intron|BAG6_ENST00000362049.6_Missense_Mutation_p.P675L			P46379	BAG6_HUMAN	BCL2-associated athanogene 6	681					apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						GCCACCAGAAGGGGAGCCTGG	0.642000													16	26					0	0	0.000566183	0	0
MEGF11	84465	broad.mit.edu	37	15	66262995	66262995	+	Silent	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr15:66262995C>T	ENST00000409699.2	-	8	967	c.795G>A	c.(793-795)ggG>ggA	p.G265G	MEGF11_ENST00000288745.3_Silent_p.G190G|MEGF11_ENST00000422354.1_Silent_p.G265G|MEGF11_ENST00000360698.4_Silent_p.G265G|MEGF11_ENST00000395625.2_Silent_p.G190G|MEGF11_ENST00000395614.1_5'UTR			A6BM72	MEG11_HUMAN	multiple EGF-like-domains 11	265						basolateral plasma membrane|integral to membrane				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						GGCCAAATGTCCCTGGTGGGC	0.572000													4	12					0	0	0.00024832	0	0
DSPP	1834	broad.mit.edu	37	4	88533671	88533671	+	Silent	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr4:88533671G>A	ENST00000399271.1	+	4	453	c.333G>A	c.(331-333)ggG>ggA	p.G111G	DSPP_ENST00000282478.7_Silent_p.G111G|RP11-742B18.1_ENST00000506480.1_RNA	NM_014208.3	NP_055023.2	Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	111					biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		GCTGGAATGGGGACACAGGAA	0.438000													10	9					0	0	0.000673444	0	0
GABRR1	2569	broad.mit.edu	37	6	89891703	89891703	+	Silent	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr6:89891703G>A	ENST00000435811.1	-	7	1273	c.819C>T	c.(817-819)ttC>ttT	p.F273F	GABRR1_ENST00000454853.2_Silent_p.F290F|GABRR1_ENST00000369451.3_Silent_p.F203F	NM_001256703.1	NP_001243632.1	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	290					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Picrotoxin(DB00466)	GGGTAGCGGGGAAATAAGTTT	0.517000													25	74					0	0	0.000720815	0	0
MAP2K3	5606	broad.mit.edu	37	17	21208386	21208386	+	Silent	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr17:21208386G>A	ENST00000342679.4	+	9	969	c.720G>A	c.(718-720)ctG>ctA	p.L240L	MAP2K3_ENST00000316920.6_Silent_p.L211L|MAP2K3_ENST00000361818.5_Silent_p.L211L	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	240	Protein kinase.				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|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|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		ACCCAGAGCTGAACCAGAAGG	0.632000													8	63					0	0	0.000442599	0	0
MUC16	94025	broad.mit.edu	37	19	9087932	9087932	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr19:9087932C>T	ENST00000397910.4	-	1	4086	c.3883G>A	c.(3883-3885)Gcc>Acc	p.A1295T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1295	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						GCCATTCTGGCTGTTGATACA	0.493000													29	55					0	0	0.000878237	0	0
JUP	3728	broad.mit.edu	37	17	39912437	39912437	+	Silent	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr17:39912437G>A	ENST00000393931.3	-	13	2194	c.2076C>T	c.(2074-2076)ccC>ccT	p.P692P	JUP_ENST00000310706.5_Silent_p.P692P|JUP_ENST00000540235.1_Intron|JUP_ENST00000393930.1_Silent_p.P692P	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	692					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		CATCTCCATAGGGCTCATTGA	0.557000													15	15					0	0	0.000308642	0	0
EDC3	80153	broad.mit.edu	37	15	74948373	74948373	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr15:74948373G>A	ENST00000315127.4	-	4	702	c.521C>T	c.(520-522)cCc>cTc	p.P174L	EDC3_ENST00000568176.1_Missense_Mutation_p.P174L|EDC3_ENST00000426797.3_Missense_Mutation_p.P174L	NM_001142444.1|NM_025083.3	NP_001135916.1|NP_079359.2	Q96F86	EDC3_HUMAN	enhancer of mRNA decapping 3	174					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol	protein binding|RNA binding			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						ACTTTTCTTGGGAGTTGCCTG	0.428000													30	48					0	0	0.000692331	0	0
MYLK3	91807	broad.mit.edu	37	16	46771977	46771977	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr16:46771977G>A	ENST00000394809.4	-	3	762	c.647C>T	c.(646-648)cCc>cTc	p.P216L	MYLK3_ENST00000536476.1_Intron	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	216					cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				TGCCTGGGCGGGGTCAGCTCC	0.667000													3	9					0	0	6.4e-05	0	0
TRBV6-6	28601	broad.mit.edu	37	7	142161931	142161931	+	RNA	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr7:142161931G>A	ENST00000390371.3	-	0	387																											TAGCGCTGTGGAGTAACTGCT	0.562000													38	95					0	0	0.000509022	0	0
ZBTB4	57659	broad.mit.edu	37	17	7366368	7366368	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr17:7366368C>T	ENST00000311403.4	-	4	2272	c.1933G>A	c.(1933-1935)Gaa>Aaa	p.E645K	ZBTB4_ENST00000380599.4_Missense_Mutation_p.E645K	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	645	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		tcctcctcttcgtcctcctcc	0.612000													7	13					0	0	8.12818e-05	0	0
HS3ST2	9956	broad.mit.edu	37	16	22826360	22826360	+	Silent	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr16:22826360G>A	ENST00000261374.3	+	1	863	c.429G>A	c.(427-429)ttG>ttA	p.L143L		NM_006043.1	NP_006034.1	Q9Y278	HS3S2_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 2	143						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity			breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19				GBM - Glioblastoma multiforme(48;0.0299)		TGCGGGCCTTGGGCACGGAAC	0.647000													6	18					0	0	0.000673444	0	0
TCP10L2	401285	broad.mit.edu	37	6	167595344	167595344	+	Silent	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr6:167595344C>T	ENST00000366832.2	+	8	1133	c.1002C>T	c.(1000-1002)ttC>ttT	p.F334F		NM_001145121.1	NP_001138593.1	B9ZVM9	B9ZVM9_HUMAN	t-complex 10-like 2	334										endometrium(1)|kidney(2)|lung(3)	6						GGTCCGGTTTCCCGAGTGAAT	0.537000													10	11					0	0	0.000673444	0	0
BCL7B	9275	broad.mit.edu	37	7	72954361	72954361	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr7:72954361G>A	ENST00000223368.2	-	4	710	c.287C>T	c.(286-288)tCc>tTc	p.S96F	BCL7B_ENST00000411832.1_Intron|BCL7B_ENST00000482231.1_5'UTR	NM_001707.3	NP_001698.2	Q9BQE9	BCL7B_HUMAN	B-cell CLL/lymphoma 7B	96							actin binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	9		Lung NSC(55;0.0659)|all_lung(88;0.152)				GTCAGACACGGAACTCTGGTT	0.552000													4	10					0	0	0.00024832	0	0
A1CF	29974	broad.mit.edu	37	10	52566490	52566490	+	Silent	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr10:52566490C>T	ENST00000395489.2	-	15	2159	c.1763G>A	c.(1762-1764)tGa>tAa	p.*588*	A1CF_ENST00000373995.3_Silent_p.*595*|A1CF_ENST00000395495.1_Silent_p.*540*|ASAH2B_ENST00000483649.1_Intron|A1CF_ENST00000373993.1_Silent_p.*595*|A1CF_ENST00000374001.1_Silent_p.*587*|A1CF_ENST00000282641.2_Silent_p.*595*|A1CF_ENST00000373997.3_Silent_p.*587*	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	0					cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						AAAGCATCTTCAGAAGGTGCC	0.373000													10	31					0	0	0.00136819	0	0
MAPK4	5596	broad.mit.edu	37	18	48190637	48190637	+	Silent	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr18:48190637C>T	ENST00000400384.2	+	2	1345	c.309C>T	c.(307-309)atC>atT	p.I103I	MAPK4_ENST00000592595.1_Silent_p.I103I|MAPK4_ENST00000540640.1_Intron|MAPK4_ENST00000588540.1_Silent_p.I103I	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	103	Protein kinase.				cell cycle		ATP binding|MAP kinase activity			lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		TGGCGTACATCGTCCAGGAGT	0.617000													14	33					0	0	0.000219431	0	0
SCN9A	6335	broad.mit.edu	37	2	167133620	167133620	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr2:167133620G>A	ENST00000303354.6	-	16	3090	c.2750C>T	c.(2749-2751)tCc>tTc	p.S917F	SCN9A_ENST00000409435.1_Missense_Mutation_p.S916F|SCN9A_ENST00000409672.1_Missense_Mutation_p.S905F|SCN9A_ENST00000375387.4_Missense_Mutation_p.S917F|AC010127.3_ENST00000447809.2_RNA			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	916						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	AATCAGGAAGGAGTGGAAGAA	0.498000													26	26					0	0	0.00058488	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12856064	12856064	+	Silent	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr1:12856064G>A	ENST00000332296.7	+	4	1447	c.1344G>A	c.(1342-1344)aaG>aaA	p.K448K	PRAMEF1_ENST00000400814.3_Silent_p.K203K	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	448										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GGCAGCCCAAGAGGATCTTCA	0.567000													21	68					0	0	0.000720815	0	0
NIN	51199	broad.mit.edu	37	14	51224102	51224102	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr14:51224102G>A	ENST00000245441.5	-	18	3836	c.3646C>T	c.(3646-3648)Cga>Tga	p.R1216*	NIN_ENST00000382043.4_Intron|NIN_ENST00000530997.2_Nonsense_Mutation_p.R1216*|NIN_ENST00000389868.3_Intron|NIN_ENST00000382041.3_Nonsense_Mutation_p.R1216*|NIN_ENST00000453196.1_Nonsense_Mutation_p.R1216*|NIN_ENST00000324330.9_Nonsense_Mutation_p.R1216*	NM_020921.3	NP_065972.3	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	1216					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					TCAGAAGCTCGATCACAGTCC	0.418000			T	PDGFRB	MPD								35	63					0	0	0.000953801	0	0
OR5J2	282775	broad.mit.edu	37	11	55944581	55944581	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr11:55944581T>G	ENST00000312298.1	+	1	488	c.488T>G	c.(487-489)tTg>tGg	p.L163W		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	163					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					ACAATCAGCTTGAGGAGACTG	0.433000													24	55					0	0	0.00106085	0	0
AKR7A2	8574	broad.mit.edu	37	1	19634998	19634998	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr1:19634998C>T	ENST00000235835.3	-	2	458	c.437G>A	c.(436-438)gGc>gAc	p.G146D		NM_003689.3	NP_003680.2	O43488	ARK72_HUMAN	aldo-keto reductase family 7, member A2 (aflatoxin aldehyde reductase)	146					carbohydrate metabolic process|cellular aldehyde metabolic process	Golgi apparatus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00461)|BRCA - Breast invasive adenocarcinoma(304;1.83e-05)|Kidney(64;0.000167)|GBM - Glioblastoma multiforme(114;0.00115)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CACCGGGGTGCCGTGGTCAGG	0.612000													8	6					0	0	0.000274275	0	0
PVRL4	81607	broad.mit.edu	37	1	161044074	161044074	+	Silent	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr1:161044074G>A	ENST00000368012.3	-	6	1392	c.1090C>T	c.(1090-1092)Ctg>Ttg	p.L364L	PVRL4_ENST00000453926.2_Silent_p.L98L	NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4	364					adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			ACCACCACCAGAAGGCAGAAC	0.597000													8	34					0	0	0.000442599	0	0
MATK	4145	broad.mit.edu	37	19	3778322	3778322	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr19:3778322C>T	ENST00000310132.6	-	14	1781	c.1383G>A	c.(1381-1383)tgG>tgA	p.W461*	MATK_ENST00000395045.2_Nonsense_Mutation_p.W462*|MATK_ENST00000395040.2_Nonsense_Mutation_p.W420*|MATK_ENST00000585778.1_Nonsense_Mutation_p.W460*	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase	461	Protein kinase.				cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTCTGCCTCCCAGCAGCTGC	0.692000													7	16					0	0	0.000274275	0	0
PARP6	56965	broad.mit.edu	37	15	72534509	72534509	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr15:72534509G>A	ENST00000569795.1	-	22	2381	c.1694C>T	c.(1693-1695)gCa>gTa	p.A565V	PARP6_ENST00000413097.2_5'UTR|PARP6_ENST00000287196.9_Missense_Mutation_p.A565V|PARP6_ENST00000260376.7_3'UTR			Q2NL67	PARP6_HUMAN	poly (ADP-ribose) polymerase family, member 6	565	PARP catalytic.						NAD+ ADP-ribosyltransferase activity			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	18						TTCACAAAGTGCTATACAGTT	0.473000													10	26					0	0	0.000978159	0	0
ZNF560	147741	broad.mit.edu	37	19	9577906	9577906	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr19:9577906C>T	ENST00000301480.4	-	10	1930	c.1717G>A	c.(1717-1719)Gaa>Aaa	p.E573K		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	573					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						TTCATACATTCATAGGGTTTC	0.393000													28	64					0	0	0.001512	0	0
AADACL4	343066	broad.mit.edu	37	1	12725981	12725981	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr1:12725981G>C	ENST00000376221.1	+	4	459	c.459G>C	c.(457-459)aaG>aaC	p.K153N		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	153						integral to membrane	carboxylesterase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		GGTACCGCAAGCTTCCTGACC	0.527000													10	27					0	0	0.000978159	0	0
BIVM-ERCC5	100533467	broad.mit.edu	37	13	103514777	103514777	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr13:103514777G>A	ENST00000602836.1	+	16	2554	c.2554G>A	c.(2554-2556)Gaa>Aaa	p.E852K	ERCC5_ENST00000355739.4_Silent_p.E426E	NM_001204425.1	NP_001191354.1	Q59FZ7	Q59FZ7_HUMAN		0					nucleotide-excision repair	nucleus	endonuclease activity|single-stranded DNA binding										GCTCCACCGAGAACAGTGATG	0.488000													19	38					0	0	0.000295444	0	0
COL1A1	1277	broad.mit.edu	37	17	48267041	48267041	+	Splice_Site	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr17:48267041G>A	ENST00000225964.5	-	38	2784	c.2667_splice	c.e38+1	p.S889_splice		NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	889	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	GAGACTTACAGAGGGGCCAGG	0.597000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta						10	12					0	0	0.000673444	0	0
MCF2L2	23101	broad.mit.edu	37	3	183006946	183006946	+	Missense_Mutation	SNP	G	G	C	rs148186903	byFrequency	TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr3:183006946G>C	ENST00000328913.3	-	14	2035	c.1738C>G	c.(1738-1740)Cgg>Ggg	p.R580G	MCF2L2_ENST00000414362.2_Missense_Mutation_p.R580G|MCF2L2_ENST00000473233.1_Missense_Mutation_p.R580G|B3GNT5_ENST00000462559.1_Intron|MCF2L2_ENST00000447025.2_Missense_Mutation_p.R580G	NM_015078.2	NP_055893.2	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	580					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)			TCCTTTCCCCGGGAGTTCAAC	0.403000													4	57					0	0	8.12818e-05	0	0
PIK3CG	5294	broad.mit.edu	37	7	106508805	106508805	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr7:106508805G>A	ENST00000359195.3	+	2	1109	c.799G>A	c.(799-801)Gaa>Aaa	p.E267K	PIK3CG_ENST00000496166.1_Missense_Mutation_p.E267K|PIK3CG_ENST00000440650.2_Missense_Mutation_p.E267K	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	267					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						AAGCCAAAGCGAACAGGATTT	0.557000													19	25					0	0	0.000295444	0	0
SAV1	60485	broad.mit.edu	37	14	51107545	51107545	+	Silent	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr14:51107545G>A	ENST00000324679.4	-	4	1236	c.873C>T	c.(871-873)tcC>tcT	p.S291S		NM_021818.3	NP_068590.1	Q9H4B6	SAV1_HUMAN	salvador homolog 1 (Drosophila)	291					hippo signaling cascade	cytoplasm|nucleus	identical protein binding			breast(1)|kidney(2)|lung(2)|prostate(1)	6	all_epithelial(31;0.000611)|Breast(41;0.0333)					GTACCAGAAGGGACTGATTTC	0.428000													21	32					0	0	0.00188189	0	0
HTT	3064	broad.mit.edu	37	4	3174732	3174732	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr4:3174732C>T	ENST00000355072.5	+	31	4185	c.4040C>T	c.(4039-4041)tCc>tTc	p.S1347F		NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	1347					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		CGCCTTGGCTCCTCCAGTGTG	0.572000													20	24					0	0	0.00152264	0	0
PCDHGA5	56110	broad.mit.edu	37	5	140744961	140744961	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr5:140744961C>T	ENST00000518069.1	+	1	1064	c.1064C>T	c.(1063-1065)tCg>tTg	p.S355L	PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGACCAGTTCGATCTCTGAA	0.512000													11	36					0	0	0.000673444	0	0
DZIP1	22873	broad.mit.edu	37	13	96293641	96293641	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr13:96293641C>T	ENST00000347108.3	-	3	937	c.505G>A	c.(505-507)Gag>Aag	p.E169K	DZIP1_ENST00000376829.2_Missense_Mutation_p.E169K|DZIP1_ENST00000361396.2_Missense_Mutation_p.E169K|DZIP1_ENST00000361156.3_Missense_Mutation_p.E169K|DZIP1_ENST00000466027.1_5'UTR			Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	169					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			GTCTTGATCTCCCCCGCCTGC	0.602000													7	10					0	0	8.12818e-05	0	0
C12orf44	60673	broad.mit.edu	37	12	52470968	52470968	+	Silent	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr12:52470968C>T	ENST00000336854.4	+	4	1129	c.651C>T	c.(649-651)gcC>gcT	p.A217A	RP11-1100L3.7_ENST00000550301.1_RNA	NM_001098673.1|NM_021934.4	NP_001092143.1|NP_068753.2	Q9BSB4	ATGA1_HUMAN	chromosome 12 open reading frame 44	217					autophagic vacuole assembly	pre-autophagosomal structure	identical protein binding|protein complex binding			endometrium(1)|lung(2)|ovary(1)	4				BRCA - Breast invasive adenocarcinoma(357;0.0978)		ACACCCTTGCCCTCTGAGCGT	0.572000													8	30					0	0	0.000673444	0	0
LRP1B	53353	broad.mit.edu	37	2	141143474	141143474	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr2:141143474C>T	ENST00000389484.3	-	67	11490	c.10519G>A	c.(10519-10521)Gaa>Aaa	p.E3507K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3507	LDL-receptor class A 25.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CAGTTTTCTTCATCTGAATTA	0.373000										TSP Lung(27;0.18)			21	41					0	0	0.000295444	0	0
ZKSCAN3	80317	broad.mit.edu	37	6	28327543	28327543	+	Silent	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr6:28327543C>T	ENST00000377255.3	+	3	477	c.180C>T	c.(178-180)ccC>ccT	p.P60P	ZKSCAN3_ENST00000341464.5_Intron|ZKSCAN3_ENST00000252211.2_Silent_p.P60P	NM_001242894.1	NP_001229823.1	Q9BRR0	ZKSC3_HUMAN	zinc finger with KRAB and SCAN domains 3	60	SCAN box.				positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	chromatin binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1)	21						CTGCAGGCCCCCGCGAGGCGC	0.652000													18	35					0	0	0.000958276	0	0
KRT28	162605	broad.mit.edu	37	17	38954593	38954593	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr17:38954593C>T	ENST00000306658.7	-	3	649	c.584G>A	c.(583-585)gGa>gAa	p.G195E		NM_181535.3	NP_853513.2	Q7Z3Y7	K1C28_HUMAN	keratin 28	195	Coil 1B.|Rod.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				TCGCCGTAATCCGTTGATGTC	0.498000													22	69					0	0	0.000295444	0	0
PLXNA2	5362	broad.mit.edu	37	1	208215667	208215667	+	Silent	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr1:208215667G>A	ENST00000367033.3	-	22	4819	c.4062C>T	c.(4060-4062)ctC>ctT	p.L1354L		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1354					axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GCTGGGCAAAGAGCTTCAGGG	0.622000													13	16					0	0	0.000219431	0	0
SYNGR2	9144	broad.mit.edu	37	17	76167007	76167007	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr17:76167007A>T	ENST00000225777.3	+	2	268	c.209A>T	c.(208-210)tAt>tTt	p.Y70F	SYNGR2_ENST00000592456.1_3'UTR|SYNGR2_ENST00000585591.1_Missense_Mutation_p.Y70F|SYNGR2_ENST00000588282.1_Missense_Mutation_p.Y70F|SYNGR2_ENST00000590201.1_Missense_Mutation_p.Y14F|SYNGR2_ENST00000589711.1_Intron			O43760	SNG2_HUMAN	synaptogyrin 2	70	MARVEL.					integral to plasma membrane				endometrium(2)|large_intestine(1)|liver(1)|lung(1)|skin(1)|urinary_tract(1)	7			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.0994)			GCCTGCCGCTATGGCAGTGCC	0.577000													16	64					0	0	0.00152264	0	0
SLC4A10	57282	broad.mit.edu	37	2	162627542	162627542	+	Silent	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr2:162627542C>T	ENST00000375514.5	+	3	428	c.141C>T	c.(139-141)caC>caT	p.H47H	SLC4A10_ENST00000493021.1_3'UTR|SLC4A10_ENST00000421911.1_Silent_p.H36H|SLC4A10_ENST00000272716.5_Silent_p.H36H|SLC4A10_ENST00000415876.2_Silent_p.H36H|SLC4A10_ENST00000446997.1_Silent_p.H36H|SLC4A10_ENST00000535165.1_Silent_p.H36H	NM_001178016.1	NP_001171487.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	36					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						TCAAAACACACTTTGAGAAAG	0.343000													8	18					0	0	0.000274275	0	0
SLC10A2	6555	broad.mit.edu	37	13	103703783	103703783	+	Splice_Site	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr13:103703783C>T	ENST00000245312.3	-	4	1182		c.e4-1			NM_000452.2	NP_000443.1	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2						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)					TGGACCCAATCTGAAAAAAAA	0.468000													11	18					0	0	0.00136819	0	0
LALBA	3906	broad.mit.edu	37	12	48962890	48962890	+	Silent	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr12:48962890C>T	ENST00000549817.1	-	2	312	c.267G>A	c.(265-267)agG>agA	p.R89R	LALBA_ENST00000301046.2_Silent_p.R89R			P00709	LALBA_HUMAN	lactalbumin, alpha-	89					cell-cell signaling|defense response to bacterium|induction of apoptosis|lactose biosynthetic process|signal transduction	extracellular space	calcium ion binding|lactose synthase activity			large_intestine(1)|stomach(2)	3						CACAGATGTTCCTTGACTGAG	0.458000													22	55					0	0	0.00106085	0	0
NR1H3	10062	broad.mit.edu	37	11	47283441	47283441	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr11:47283441C>T	ENST00000481889.2	+	5	1085	c.917C>T	c.(916-918)cCc>cTc	p.P306L	NR1H3_ENST00000405853.3_Intron|NR1H3_ENST00000395397.3_Intron|NR1H3_ENST00000441012.2_Intron|NR1H3_ENST00000467728.1_Intron|NR1H3_ENST00000529540.1_Intron|NR1H3_ENST00000405576.1_Intron|NR1H3_ENST00000407404.1_Intron|NR1H3_ENST00000527949.1_Intron			Q13133	NR1H3_HUMAN	nuclear receptor subfamily 1, group H, member 3	0	Ligand-binding (Potential).				apoptotic cell clearance|cellular response to lipopolysaccharide|cholesterol homeostasis|negative regulation of cholesterol storage|negative regulation of inflammatory response|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage activation|negative regulation of pancreatic juice secretion|negative regulation of pinocytosis|negative regulation of secretion of lysosomal enzymes|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of cholesterol homeostasis|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor biosynthetic process|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of circadian rhythm|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to progesterone stimulus|triglyceride homeostasis	nuclear chromatin|nucleoplasm	cholesterol binding|steroid hormone receptor activity|sterol response element binding|transcription coactivator activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						CCTCCTAGTCCCCGTTTGAGG	0.557000													21	66					0	0	0.00152264	0	0
HERC2P4	100289574	broad.mit.edu	37	16	32163507	32163507	+	RNA	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr16:32163507C>T	ENST00000564145.1	-	0	65																											TTTTGCCCTTCGGGGTGATGC	0.542000													9	30					0	0	0.000442599	0	0
TRIM48	79097	broad.mit.edu	37	11	55032382	55032382	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr11:55032382G>A	ENST00000417545.2	+	2	137	c.51G>A	c.(49-51)atG>atA	p.M17I		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	1						intracellular	zinc ion binding			endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						TCAGAAACATGAATTCTGGAA	0.453000													64	128					0	0	0.000781405	0	0
CKAP4	10970	broad.mit.edu	37	12	106633846	106633846	+	Silent	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr12:106633846G>A	ENST00000378026.4	-	2	901	c.765C>T	c.(763-765)ttC>ttT	p.F255F	CKAP4_ENST00000552828.1_5'UTR	NM_006825.3	NP_006816.2	Q07065	CKAP4_HUMAN	cytoskeleton-associated protein 4	255						ER-Golgi intermediate compartment membrane|integral to membrane|membrane fraction				NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|pancreas(1)|urinary_tract(1)	20						GGACTTCTGTGAAGATGGCGA	0.547000													38	69					0	0	0.000953801	0	0
DNAH3	55567	broad.mit.edu	37	16	20975472	20975472	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr16:20975472A>G	ENST00000261383.3	-	53	9733	c.9734T>C	c.(9733-9735)gTt>gCt	p.V3245A	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3245	AAA 5 (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)		CATGGAGAGAACCTCCAAGAT	0.438000													40	77					0	0	0.00195071	0	0
BCMO1	53630	broad.mit.edu	37	16	81279104	81279104	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr16:81279104G>A	ENST00000258168.2	+	2	550	c.89G>A	c.(88-90)gGa>gAa	p.G30E	BCMO1_ENST00000425577.2_Silent_p.G4G|BCMO1_ENST00000564552.1_Missense_Mutation_p.G30E	NM_017429.2	NP_059125.2	Q9HAY6	BCDO1_HUMAN	beta-carotene 15,15'-monooxygenase 1	30					retinoid metabolic process|steroid metabolic process	cytosol	beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity			breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1)	23						TGGCTGCAGGGAACCCTGCTC	0.522000													41	70					0	0	0.000509022	0	0
SORCS3	22986	broad.mit.edu	37	10	106974277	106974277	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr10:106974277G>A	ENST00000369701.3	+	18	2680	c.2453G>A	c.(2452-2454)gGa>gAa	p.G818E	SORCS3_ENST00000369699.4_Missense_Mutation_p.G104E	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	818						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		ATGTGCCCTGGAAAAGCCCCT	0.552000													7	13					0	0	8.12818e-05	0	0
AHNAK2	113146	broad.mit.edu	37	14	105410901	105410901	+	Silent	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr14:105410901C>T	ENST00000333244.5	-	7	11006	c.10887G>A	c.(10885-10887)aaG>aaA	p.K3629K	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3629						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)			CAGTCACGTCCTTGTCAGCCA	0.597000													42	91					0	0	0.000781405	0	0
OR4S1	256148	broad.mit.edu	37	11	48328418	48328418	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr11:48328418C>T	ENST00000319988.1	+	1	644	c.644C>T	c.(643-645)tCc>tTc	p.S215F		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, member 1	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						CTTATCATTTCCTATGTTATC	0.463000													23	46					0	0	0.000375601	0	0
KLHL6	89857	broad.mit.edu	37	3	183210442	183210442	+	Silent	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr3:183210442C>T	ENST00000341319.3	-	6	1439	c.1404G>A	c.(1402-1404)aaG>aaA	p.K468K		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	468										breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			CATACAGCTTCTTCTTATGGC	0.552000													35	44					0	0	0.000781405	0	0
CNTN5	53942	broad.mit.edu	37	11	99690469	99690469	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr11:99690469C>T	ENST00000524871.1	+	4	540	c.250C>T	c.(250-252)Cat>Tat	p.H84Y	CNTN5_ENST00000418526.2_Intron|CNTN5_ENST00000527185.1_Missense_Mutation_p.H84Y|CNTN5_ENST00000528682.1_Missense_Mutation_p.H84Y|CNTN5_ENST00000279463.3_Missense_Mutation_p.H84Y	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	84					cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		CAATCTTTATCATTCCTCAGA	0.428000													5	9					0	0	0.000602214	0	0
APLP1	333	broad.mit.edu	37	19	36368622	36368622	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr19:36368622G>A	ENST00000221891.4	+	12	1639	c.1447G>A	c.(1447-1449)Gaa>Aaa	p.E483K	APLP1_ENST00000537454.2_Missense_Mutation_p.E444K|APLP1_ENST00000589298.2_3'UTR|APLP1_ENST00000586861.1_Missense_Mutation_p.E477K	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	483					apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	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)			CCCCTCAGAGGAACTCCTCCA	0.597000													13	28					0	0	0.00136819	0	0
PDZRN4	29951	broad.mit.edu	37	12	41967003	41967003	+	Missense_Mutation	SNP	G	G	A	rs147326861	byFrequency	TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr12:41967003G>A	ENST00000298919.7	+	10	2030	c.1642G>A	c.(1642-1644)Gag>Aag	p.E548K	PDZRN4_ENST00000539469.2_Missense_Mutation_p.E550K|PDZRN4_ENST00000402685.2_Missense_Mutation_p.E808K			Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	808							ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				TGAAAGCAAGGAGAAGGTTTT	0.507000													41	78					0	0	0.000781405	0	0
SAMD12	401474	broad.mit.edu	37	8	119593116	119593116	+	Silent	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr8:119593116C>T	ENST00000409003.4	-	2	158	c.30G>A	c.(28-30)ttG>ttA	p.L10L	SAMD12_ENST00000314727.4_Silent_p.L10L	NM_001101676.1	NP_001095146.1	Q8N8I0	SAM12_HUMAN	sterile alpha motif domain containing 12	10										endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)	9	all_cancers(13;3.91e-25)|Lung NSC(37;1.13e-07)|Ovarian(258;0.0249)		STAD - Stomach adenocarcinoma(47;0.00391)			CCCGTGGATTCAAACCACAGT	0.383000													7	17					0	0	8.12818e-05	0	0
MYO5B	4645	broad.mit.edu	37	18	47518741	47518741	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr18:47518741G>A	ENST00000285039.7	-	6	972	c.673C>T	c.(673-675)Cag>Tag	p.Q225*		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	225	Myosin head-like.				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)		AAGCCAATCTGGATGTACTTG	0.488000													50	82					0	0	0.000781405	0	0
TPRG1	285386	broad.mit.edu	37	3	188925305	188925305	+	Silent	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr3:188925305G>A	ENST00000345063.3	+	2	299	c.132G>A	c.(130-132)caG>caA	p.Q44Q	TPRG1_ENST00000433971.1_Silent_p.Q44Q	NM_198485.3	NP_940887.1	Q6ZUI0	TPRG1_HUMAN	tumor protein p63 regulated 1	44										endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|skin(2)|urinary_tract(1)	16	all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925)	all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255)	Lung(62;6.93e-06)	GBM - Glioblastoma multiforme(93;4.77e-14)		TTTCAAGGCAGTCAAGTGTGA	0.463000													31	95					0	0	0.000953801	0	0
FAM83B	222584	broad.mit.edu	37	6	54804615	54804615	+	Silent	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr6:54804615C>T	ENST00000306858.7	+	5	962	c.846C>T	c.(844-846)gtC>gtT	p.V282V		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	282										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					GATCCTGTGTCCCTAGTTCAT	0.438000													14	42					0	0	0.00185496	0	0
GOLGB1	2804	broad.mit.edu	37	3	121413651	121413651	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr3:121413651G>T	ENST00000393667.3	-	13	5829	c.5719C>A	c.(5719-5721)Caa>Aaa	p.Q1907K	GOLGB1_ENST00000340645.5_Missense_Mutation_p.Q1902K	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	1902					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		AGTTCTTCTTGGATTTGCTGA	0.368000													9	288					0.000442599	0.00325195	0.000442599	1	0
PKHD1L1	93035	broad.mit.edu	37	8	110456097	110456097	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr8:110456097G>A	ENST00000378402.5	+	37	4861	c.4757G>A	c.(4756-4758)gGa>gAa	p.G1586E		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1586	IPT/TIG 8.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ACAATTATTGGACATGGCTTT	0.318000										HNSCC(38;0.096)			32	76					0	0	0.000953801	0	0
VPS45	11311	broad.mit.edu	37	1	150049229	150049229	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr1:150049229C>T	ENST00000369130.3	+	6	1042	c.496C>T	c.(496-498)Ctt>Ttt	p.L166F	VPS45_ENST00000369128.5_Intron|VPS45_ENST00000535106.1_Intron	NM_007259.3	NP_009190.2	Q9NRW7	VPS45_HUMAN	vacuolar protein sorting 45 homolog (S. cerevisiae)	166					blood coagulation|intracellular protein transport|vesicle docking involved in exocytosis	endosome membrane|Golgi membrane|integral to membrane of membrane fraction				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21	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)			TACAGCTCTCCTTTTATCTCT	0.398000													14	36					0	0	0.000219431	0	0
CPT1C	126129	broad.mit.edu	37	19	50210789	50210789	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr19:50210789C>T	ENST00000392518.4	+	13	1730	c.1358C>T	c.(1357-1359)tCc>tTc	p.S453F	CPT1C_ENST00000323446.5_Missense_Mutation_p.S453F|CPT1C_ENST00000354199.5_Missense_Mutation_p.S453F|CPT1C_ENST00000598293.1_Missense_Mutation_p.S453F|CPT1C_ENST00000405931.2_Missense_Mutation_p.S442F	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	453					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		TTTGACAAATCCTTCACCCTA	0.587000													17	41					0	0	0.00074312	0	0
OR2G3	81469	broad.mit.edu	37	1	247769766	247769766	+	Silent	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr1:247769766G>A	ENST00000320002.2	+	1	911	c.879G>A	c.(877-879)agG>agA	p.R293R	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			ATACTTTAAGGAACAAGGATA	0.423000													20	34					0	0	0.00188189	0	0
GRID2	2895	broad.mit.edu	37	4	94411804	94411804	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr4:94411804T>A	ENST00000282020.4	+	12	2131	c.1873T>A	c.(1873-1875)Tac>Aac	p.Y625N	GRID2_ENST00000510992.1_Missense_Mutation_p.Y530N	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	625					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	GGAAGTCCCGTACACGACTCT	0.423000													25	80					0	0	0.000878237	0	0
DSCAM	1826	broad.mit.edu	37	21	41668061	41668061	+	Silent	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr21:41668061C>T	ENST00000400454.1	-	10	2580	c.2103G>A	c.(2101-2103)ggG>ggA	p.G701G		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	701	Ig-like C2-type 8.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TGCCATAAATCCCGTCCTGGT	0.443000													16	35					0	0	0.000566183	0	0
OR52N1	79473	broad.mit.edu	37	11	5809912	5809912	+	Silent	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr11:5809912G>A	ENST00000317078.1	-	1	134	c.135C>T	c.(133-135)ttC>ttT	p.F45F	TRIM5_ENST00000380027.1_Intron	NM_001001913.1	NP_001001913.1	Q8NH53	O52N1_HUMAN	olfactory receptor, family 52, subfamily N, member 1	45					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3)	31		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		ACATAAGGCCGAAGTTCCCTG	0.463000													10	28					0	0	0.000673444	0	0
OR5AK2	390181	broad.mit.edu	37	11	56756748	56756748	+	Silent	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr11:56756748G>A	ENST00000326855.2	+	1	402	c.360G>A	c.(358-360)gtG>gtA	p.V120V		NM_001005323.1	NP_001005323.1	Q8NH90	O5AK2_HUMAN	olfactory receptor, family 5, subfamily AK, member 2	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						TGATGGCAGTGGATCCTTATG	0.418000													24	39					0	0	0.000295444	0	0
SOX7	83595	broad.mit.edu	37	8	10583750	10583750	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr8:10583750G>A	ENST00000304501.1	-	2	743	c.665C>T	c.(664-666)tCc>tTc	p.S222F	SOX7_ENST00000554914.1_Missense_Mutation_p.S274F|SOX7_ENST00000553390.1_Missense_Mutation_p.S274F	NM_031439.2	NP_113627.1	Q9BT81	SOX7_HUMAN	SRY (sex determining region Y)-box 7	222					endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				COAD - Colon adenocarcinoma(149;0.0732)		CTGGCAGGGGGAGGAGAAGAA	0.672000													11	23					0	0	0.000219431	0	0
DSC1	1823	broad.mit.edu	37	18	28737400	28737400	+	Silent	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr18:28737400G>A	ENST00000257197.3	-	3	546	c.285C>T	c.(283-285)ttC>ttT	p.F95F	DSC1_ENST00000257198.5_Silent_p.F95F|RP11-408H20.2_ENST00000581836.1_RNA	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	95					homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			CATCTGAAAGGAAAATGGAAA	0.423000													23	36					0	0	0.000878237	0	0
MXRA5	25878	broad.mit.edu	37	X	3248228	3248228	+	Silent	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chrX:3248228G>A	ENST00000217939.6	-	4	694	c.540C>T	c.(538-540)ttC>ttT	p.F180F		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	180						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)				TGGAGAGTCTGAAATAATCCA	0.483000													9	4					0	0	0.000274275	0	0
ZFP2	80108	broad.mit.edu	37	5	178358890	178358890	+	Silent	SNP	C	C	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr5:178358890C>A	ENST00000361362.2	+	5	1106	c.576C>A	c.(574-576)ggC>ggA	p.G192G	ZFP2_ENST00000503510.2_Silent_p.G192G|ZFP2_ENST00000523286.1_Silent_p.G192G|ZFP2_ENST00000520301.1_Silent_p.G192G	NM_030613.2	NP_085116.2	Q6ZN57	ZFP2_HUMAN	ZFP2 zinc finger protein	192					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	20	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)		AAGAGTGTGGCAAAGCCTTCC	0.393000													15	25					0.000308642	0.00227101	0.000308642	1	0
KMT2D	8085	broad.mit.edu	37	12	49416416	49416416	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr12:49416416C>T	ENST00000301067.7	-	51	16294	c.16295G>A	c.(16294-16296)cGg>cAg	p.R5432Q		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D									p.R5162Q(1)									CACCTCGTTCCGAATGATGGT	0.552000													57	108					0	0	0.000781405	0	0
UPK1B	7348	broad.mit.edu	37	3	118913189	118913189	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr3:118913189G>A	ENST00000264234.3	+	6	741	c.592G>A	c.(592-594)Gaa>Aaa	p.E198K	UPK1B_ENST00000460625.1_Missense_Mutation_p.E190K|UPK1B_ENST00000497685.1_Missense_Mutation_p.E118K	NM_006952.3	NP_008883.2	O75841	UPK1B_HUMAN	uroplakin 1B	198					epithelial cell differentiation	integral to membrane	structural molecule activity			breast(1)|endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	14				GBM - Glioblastoma multiforme(114;0.222)		CAATCTTAAAGAACCTCTCAA	0.478000													36	109					0	0	0.00170553	0	0
OTX2	5015	broad.mit.edu	37	14	57268674	57268674	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr14:57268674C>T	ENST00000339475.5	-	5	949	c.673G>A	c.(673-675)Gcc>Acc	p.A225T	OTX2_ENST00000554788.1_3'UTR|OTX2_ENST00000555006.1_Missense_Mutation_p.A217T|OTX2_ENST00000408990.3_Missense_Mutation_p.A217T	NM_001270523.1|NM_001270524.1|NM_001270525.1|NM_021728.3	NP_001257452.1|NP_001257453.1|NP_001257454.1|NP_068374.1	P32243	OTX2_HUMAN	orthodenticle homeobox 2	217					axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway	growth cone|nucleus|protein complex	eukaryotic initiation factor 4E binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					CTGAGTGTGGCCCCTGGTCCG	0.522000													11	28					0	0	0.000978159	0	0
CBX6	23466	broad.mit.edu	37	22	39262628	39262628	+	Silent	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr22:39262628G>A	ENST00000407418.3	-	5	948	c.825C>T	c.(823-825)tcC>tcT	p.S275S	CBX6_ENST00000216083.6_Silent_p.S257S			O95503	CBX6_HUMAN	chromobox homolog 6	275					chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex				large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6	Melanoma(58;0.04)					GGCAGCCGGAGGAGCCAGAGC	0.751000													3	6					0	0	6.4e-05	0	0
SLC4A8	9498	broad.mit.edu	37	12	51868160	51868160	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr12:51868160C>T	ENST00000453097.2	+	15	2156	c.1939C>T	c.(1939-1941)Cac>Tac	p.H647Y	SLC4A8_ENST00000394856.1_Missense_Mutation_p.H594Y|SLC4A8_ENST00000535225.2_Missense_Mutation_p.H594Y|SLC4A8_ENST00000358657.3_Missense_Mutation_p.H674Y|SLC4A8_ENST00000514353.3_Missense_Mutation_p.H594Y	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 8	647					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity	p.H647Y(2)|p.H594Y(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		TCCAAACAATCACACCCTCCA	0.458000													8	17					0	0	0.000442599	0	0
CORO2B	10391	broad.mit.edu	37	15	68987586	68987586	+	Silent	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr15:68987586G>A	ENST00000543950.1	+	3	663	c.309G>A	c.(307-309)gaG>gaA	p.E103E	CORO2B_ENST00000261861.5_Silent_p.E103E|CORO2B_ENST00000540068.1_Silent_p.E103E|CORO2B_ENST00000566799.1_Silent_p.E108E	NM_001190457.1	NP_001177386.1	Q9UQ03	COR2B_HUMAN	coronin, actin binding protein, 2B	108					actin cytoskeleton organization	actin cytoskeleton|cytoplasm|membrane	actin filament binding			kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						CGTGCTCGGAGGACACGTCGG	0.612000													20	39					0	0	0.00188189	0	0
AUTS2	26053	broad.mit.edu	37	7	70246654	70246654	+	Silent	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr7:70246654C>T	ENST00000342771.4	+	15	2379	c.2058C>T	c.(2056-2058)ttC>ttT	p.F686F	AUTS2_ENST00000406775.2_Silent_p.F662F	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	686										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		AACCTGAGTTCCTGAGCCGCC	0.562000													31	52					0	0	0.00058488	0	0
DNAH17	8632	broad.mit.edu	37	17	76455993	76455993	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr17:76455993C>T	ENST00000389840.5	-	60	9608	c.9484G>A	c.(9484-9486)Ggc>Agc	p.G3162S	DNAH17_ENST00000585328.1_Missense_Mutation_p.G3171S|DNAH17_ENST00000586052.1_5'UTR					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GGGATCTTGCCCCCAGGTGCG	0.567000													32	29					0	0	0.000491102	0	0
CPNE4	131034	broad.mit.edu	37	3	131261629	131261629	+	Silent	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr3:131261629G>A	ENST00000512055.1	-	19	3437	c.1311C>T	c.(1309-1311)ttC>ttT	p.F437F	CPNE4_ENST00000502818.1_Silent_p.F455F|CPNE4_ENST00000511604.1_Silent_p.F437F|CPNE4_ENST00000512332.1_Silent_p.F455F|CPNE4_ENST00000429747.1_Silent_p.F437F			Q96A23	CPNE4_HUMAN	copine IV	437	VWFA.									central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						TCAGCAGGATGAAGTATTGCT	0.552000													17	21					0	0	0.00121646	0	0
LGALS12	85329	broad.mit.edu	37	11	63283175	63283175	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr11:63283175G>A	ENST00000415491.2	+	7	1285	c.671G>A	c.(670-672)aGa>aAa	p.R224K	LGALS12_ENST00000340246.5_Missense_Mutation_p.R286K|LGALS12_ENST00000394618.3_Missense_Mutation_p.R285K|LGALS12_ENST00000255684.5_Missense_Mutation_p.R276K|LGALS12_ENST00000425950.2_Missense_Mutation_p.R215K	NM_001142537.1	NP_001136009.1	Q96DT0	LEG12_HUMAN	lectin, galactoside-binding, soluble, 12	285	Galectin 2.				apoptosis|induction of apoptosis by intracellular signals	nucleus	lactose binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	16						TACCCCCAGAGATTCTTTGAG	0.557000													5	14					0	0	8.12818e-05	0	0
MAP1A	4130	broad.mit.edu	37	15	43817529	43817529	+	Silent	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr15:43817529G>A	ENST00000382031.1	+	5	4603	c.4572G>A	c.(4570-4572)agG>agA	p.R1524R	MAP1A_ENST00000300231.5_Silent_p.R1286R|MAP1A_ENST00000399453.1_Silent_p.R1286R			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1286						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GCCTTGACAGGAAGTCACCTG	0.527000													18	37					0	0	0.00152264	0	0
KRTAP5-11	440051	broad.mit.edu	37	11	71293730	71293730	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr11:71293730A>T	ENST00000398530.1	-	1	191	c.154T>A	c.(154-156)Tgt>Agt	p.C52S	AP000867.1_ENST00000343767.3_Intron|KRTAP5-11_ENST00000526239.1_Intron	NM_001005405.2	NP_001005405.1	Q6L8G4	KR511_HUMAN	keratin associated protein 5-11	52	6 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						GAGCAGGAACAGGCTGGCACA	0.652000													29	81					0	0	0.000491102	0	0
PLCH1	23007	broad.mit.edu	37	3	155241704	155241704	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr3:155241704G>T	ENST00000460012.1	-	11	1719	c.1362C>A	c.(1360-1362)tgC>tgA	p.C454*	PLCH1_ENST00000334686.6_Nonsense_Mutation_p.C454*|PLCH1_ENST00000414191.1_Nonsense_Mutation_p.C454*|PLCH1_ENST00000340059.7_Nonsense_Mutation_p.C472*|PLCH1_ENST00000447496.2_Nonsense_Mutation_p.C472*|PLCH1_ENST00000494598.1_Nonsense_Mutation_p.C472*			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	472					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GCTTGAATTTGCACTCGTCTT	0.418000													37	103					9.62906e-15	7.21109e-14	0.00128727	1	0
RHBDL2	54933	broad.mit.edu	37	1	39384691	39384691	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr1:39384691C>T	ENST00000289248.2	-	2	1202	c.194G>A	c.(193-195)aGa>aAa	p.R65K	RHBDL2_ENST00000372985.3_Missense_Mutation_p.R145K|RHBDL2_ENST00000538156.1_Missense_Mutation_p.R132K|RP5-864K19.4_ENST00000433671.2_RNA|RHBDL2_ENST00000540558.1_Missense_Mutation_p.R65K|RHBDL2_ENST00000372990.1_Missense_Mutation_p.R65K			Q9NX52	RHBL2_HUMAN	rhomboid, veinlet-like 2 (Drosophila)	65					proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	8	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			GCAGTTAGCTCTCTCCAAGTA	0.567000													20	41					0	0	0.00188189	0	0
FSHR	2492	broad.mit.edu	37	2	49381507	49381507	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr2:49381507C>T	ENST00000406846.2	-	1	169	c.50G>A	c.(49-51)gGa>gAa	p.G17E	FSHR_ENST00000304421.4_Missense_Mutation_p.G17E|FSHR_ENST00000346173.3_Missense_Mutation_p.G17E	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	17					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)	ATGATGACATCCTGAGCCCAA	0.488000									Gonadal Dysgenesis, 46 XX				6	10					0	0	8.12818e-05	0	0
C1orf141	400757	broad.mit.edu	37	1	67561968	67561968	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr1:67561968G>A	ENST00000371007.2	-	6	492	c.383C>T	c.(382-384)tCt>tTt	p.S128F	C1orf141_ENST00000544837.1_Missense_Mutation_p.S128F|C1orf141_ENST00000371006.1_Missense_Mutation_p.S128F	NM_001276351.1	NP_001263280.1	Q5JVX7	CA141_HUMAN	chromosome 1 open reading frame 141	128										NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18						GAGACCAACAGAATCCAATGG	0.264000													14	26					0	0	0.000566183	0	0
MICALCL	84953	broad.mit.edu	37	11	12316175	12316175	+	Silent	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr11:12316175C>T	ENST00000256186.2	+	3	1488	c.1197C>T	c.(1195-1197)tcC>tcT	p.S399S		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	399					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		TTTTTTCCTCCCTCAGACTCA	0.458000													36	67					0	0	0.00148497	0	0
PCDHA6	56142	broad.mit.edu	37	5	140209387	140209387	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr5:140209387G>A	ENST00000529310.1	+	1	1825	c.1711G>A	c.(1711-1713)Ggt>Agt	p.G571S	PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCTCGGGTGGGTGGTACTGG	0.692000													23	47					0	0	0.000295444	0	0
LILRB1	10859	broad.mit.edu	37	19	55145111	55145111	+	Silent	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr19:55145111C>T	ENST00000396331.1	+	9	1641	c.1284C>T	c.(1282-1284)tcC>tcT	p.S428S	LILRB1_ENST00000434867.2_Silent_p.S428S|LILRB1_ENST00000396317.1_Intron|LILRB1_ENST00000396327.3_Silent_p.S428S|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000448689.1_Silent_p.S428S|LILRB1_ENST00000396315.1_Silent_p.S428S|LILRB1_ENST00000396321.2_Silent_p.S428S|LILRB1_ENST00000396332.4_Silent_p.S428S|LILRB1_ENST00000427581.2_Silent_p.S464S|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000324602.7_Silent_p.S428S	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	428					regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		GCCCCAGCTCCCCGACAACAG	0.597000										HNSCC(37;0.09)			4	12					0	0	0.00024832	0	0
KIAA0100	9703	broad.mit.edu	37	17	26955507	26955507	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr17:26955507G>A	ENST00000528896.2	-	24	4444	c.4370C>T	c.(4369-4371)tCc>tTc	p.S1457F	KIAA0100_ENST00000389003.3_Missense_Mutation_p.S1314F|KIAA0100_ENST00000544884.1_Missense_Mutation_p.S1314F	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	1457						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					AGTTGTCCAGGAAATCCGTAA	0.458000													19	38					0	0	0.00152264	0	0
FREM2	341640	broad.mit.edu	37	13	39265881	39265881	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr13:39265881G>T	ENST00000280481.7	+	1	4616	c.4400G>T	c.(4399-4401)gGt>gTt	p.G1467V		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1467					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CCCATGCGAGGTCACCTGGAA	0.483000													19	35					2.37509e-13	1.77343e-12	0.00152264	1	0
IL20RA	53832	broad.mit.edu	37	6	137323265	137323265	+	Silent	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr6:137323265C>T	ENST00000367748.1	-	6	1345	c.759G>A	c.(757-759)tcG>tcA	p.S253S	IL20RA_ENST00000541547.1_Silent_p.S315S|IL20RA_ENST00000316649.5_Silent_p.S364S			Q9UHF4	I20RA_HUMAN	interleukin 20 receptor, alpha	364						integral to membrane	receptor activity	p.S364S(1)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)		CCATCAAATGCGAAGCATACC	0.483000													13	33					0	0	0.00136819	0	0
LRRC27	80313	broad.mit.edu	37	10	134161627	134161627	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr10:134161627T>A	ENST00000392638.2	+	6	888	c.693T>A	c.(691-693)ttT>ttA	p.F231L	LRRC27_ENST00000368613.4_Missense_Mutation_p.F231L|LRRC27_ENST00000368615.3_Missense_Mutation_p.F231L|LRRC27_ENST00000368612.1_Missense_Mutation_p.F169L|LRRC27_ENST00000368614.3_Missense_Mutation_p.F231L|LRRC27_ENST00000368610.3_Missense_Mutation_p.F169L|LRRC27_ENST00000432555.2_Missense_Mutation_p.F104L|LRRC27_ENST00000344079.5_Missense_Mutation_p.F231L|LRRC27_ENST00000356571.4_3'UTR			Q9C0I9	LRC27_HUMAN	leucine rich repeat containing 27	231										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		AGGCCAGCTTTCTCCCACCTG	0.582000													15	8					0	0	0.000422831	0	0
OXR1	55074	broad.mit.edu	37	8	107718972	107718972	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr8:107718972T>C	ENST00000445937.1	+	9	1484	c.1223T>C	c.(1222-1224)tTa>tCa	p.L408S	OXR1_ENST00000442977.2_Missense_Mutation_p.L409S|OXR1_ENST00000452423.2_5'UTR|OXR1_ENST00000517566.2_Missense_Mutation_p.L408S|OXR1_ENST00000497705.1_Missense_Mutation_p.L341S|OXR1_ENST00000312046.6_Missense_Mutation_p.L401S|OXR1_ENST00000531443.1_Missense_Mutation_p.L408S	NM_018002.3	NP_060472.2	Q8N573	OXR1_HUMAN	oxidation resistance 1	409					cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion				NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			GTTGGGACTTTATGTCATAAA	0.363000													18	53					0	0	0.000958276	0	0
SOGA2	23255	broad.mit.edu	37	18	8784805	8784805	+	Silent	SNP	C	C	T	rs138194834		TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr18:8784805C>T	ENST00000359865.3	+	6	1837	c.1695C>T	c.(1693-1695)atC>atT	p.I565I	SOGA2_ENST00000517570.1_Silent_p.I565I|SOGA2_ENST00000400050.3_Silent_p.I565I|SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000306329.11_Silent_p.I925I	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN	SOGA family member 2	916																	ACTCCCCCATCGGGAACCTGG	0.632000													5	15					0	0	0.00116845	0	0
AAAS	8086	broad.mit.edu	37	12	53715136	53715136	+	Silent	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr12:53715136G>A	ENST00000209873.4	-	1	279	c.114C>T	c.(112-114)ttC>ttT	p.F38F	AAAS_ENST00000549983.1_Intron|AAAS_ENST00000394384.3_Silent_p.F38F|AAAS_ENST00000550286.1_Intron	NM_015665.5	NP_056480.1	Q9NRG9	AAAS_HUMAN	achalasia, adrenocortical insufficiency, alacrimia	38					carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction	nuclear pore				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						CCTGGCCCCGGAAGTCGGGGG	0.657000													15	39					0	0	0.000958276	0	0
IGKV1-16	28938	broad.mit.edu	37	2	89399410	89399410	+	RNA	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr2:89399410C>T	ENST00000479981.1	-	0	319																											CTGCAGGCTGCTGATGGTGAG	0.493000													25	28					0	0	0.000491102	0	0
KIF1C	10749	broad.mit.edu	37	17	4927384	4927384	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr17:4927384C>T	ENST00000320785.5	+	23	3607	c.3250C>T	c.(3250-3252)Ccc>Tcc	p.P1084S		NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C	1084	Pro-rich.				microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	endoplasmic reticulum|Golgi apparatus|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						ATACACTACTCCCCCACGAAT	0.652000													12	15					0	0	0.000308642	0	0
PAK6	56924	broad.mit.edu	37	15	40564469	40564469	+	Silent	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr15:40564469C>T	ENST00000455577.2	+	6	1815	c.903C>T	c.(901-903)agC>agT	p.S301S	PAK6_ENST00000441369.1_Silent_p.S301S|PAK6_ENST00000560346.1_Silent_p.S301S|PAK6_ENST00000542403.2_Silent_p.S301S|PAK6_ENST00000453867.1_Silent_p.S301S|PAK6_ENST00000260404.4_Silent_p.S301S|RP11-133K1.2_ENST00000558658.1_3'UTR	NM_001276718.1	NP_001263647.1	Q9NQU5	PAK6_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 6	301	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)		ACCCCCCAAGCCTGGTGGCCA	0.622000													21	47					0	0	0.00188189	0	0
AKR1CL1	340811	broad.mit.edu	37	10	5203886	5203886	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr10:5203886C>T	ENST00000334314.3	-	3	387	c.311G>A	c.(310-312)aGg>aAg	p.R104K						aldo-keto reductase family 1, member C-like 1											cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6						CTTCAGTGACCTTTCTAGGGC	0.408000													8	17					0	0	0.000274275	0	0
SORL1	6653	broad.mit.edu	37	11	121495950	121495950	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr11:121495950G>A	ENST00000260197.7	+	46	6457	c.6328G>A	c.(6328-6330)Gag>Aag	p.E2110K	SORL1_ENST00000525532.1_Missense_Mutation_p.E1054K|SORL1_ENST00000527934.1_Missense_Mutation_p.E725K|SORL1_ENST00000532694.1_Missense_Mutation_p.E956K|SORL1_ENST00000534286.1_Missense_Mutation_p.E1020K	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	2110	Fibronectin type-III 6.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GATCTGTGGGGAGCCTGCCAT	0.463000													28	20					0	0	0.000339439	0	0
MARCO	8685	broad.mit.edu	37	2	119731950	119731950	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr2:119731950C>T	ENST00000541757.1	+	6	648	c.268C>T	c.(268-270)Cct>Tct	p.P90S	MARCO_ENST00000327097.4_Missense_Mutation_p.P168S			Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	168					cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						GCCTGGTGCCCCTGGCCCGCC	0.567000													3	8					0	0	0.00024832	0	0
SLC4A8	9498	broad.mit.edu	37	12	51847358	51847358	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr12:51847358G>A	ENST00000453097.2	+	5	666	c.449G>A	c.(448-450)gGa>gAa	p.G150E	SLC4A8_ENST00000394856.1_Missense_Mutation_p.G97E|SLC4A8_ENST00000535225.2_Missense_Mutation_p.G97E|SLC4A8_ENST00000358657.3_Missense_Mutation_p.G177E|SLC4A8_ENST00000514353.3_Missense_Mutation_p.G97E	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 8	150					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity	p.G150E(2)|p.G97E(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		GAAGATGGGGGAGAACGCTGG	0.418000													20	41					0	0	0.000586117	0	0
MYOM3	127294	broad.mit.edu	37	1	24384090	24384090	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr1:24384090C>T	ENST00000330966.7	-	37	4249	c.4087G>A	c.(4087-4089)Gga>Aga	p.G1363R	RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000374434.3_Missense_Mutation_p.G1360R|MYOM3_ENST00000338909.5_Missense_Mutation_p.G253R			Q5VTT5	MYOM3_HUMAN	myomesin 3	1360	Ig-like C2-type 4.									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)		GTGGGGTCTCCTGAGACGATG	0.517000													14	33					0	0	0.00074312	0	0
ZSCAN5A	79149	broad.mit.edu	37	19	56733512	56733512	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr19:56733512G>A	ENST00000587340.1	-	7	1618	c.923C>T	c.(922-924)tCc>tTc	p.S308F	ZSCAN5A_ENST00000592355.1_Missense_Mutation_p.S307F|ZSCAN5A_ENST00000587492.1_Missense_Mutation_p.S162F|ZSCAN5A_ENST00000391713.1_Missense_Mutation_p.S308F|ZSCAN5A_ENST00000254165.3_Missense_Mutation_p.S191F			Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	308					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						CTCTTCTTGGGAAATGGAGGA	0.547000													30	58					0	0	0.00058488	0	0
EPHA3	2042	broad.mit.edu	37	3	89445048	89445048	+	Silent	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr3:89445048C>T	ENST00000336596.2	+	6	1593	c.1368C>T	c.(1366-1368)tcC>tcT	p.S456S	EPHA3_ENST00000452448.2_Silent_p.S456S|EPHA3_ENST00000494014.1_Silent_p.S456S	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	456	Fibronectin type-III 2.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		TCTCTTTGTCCTGGCAAGAAC	0.468000										TSP Lung(6;0.00050)			35	66					0	0	0.000692331	0	0
HEATR6	63897	broad.mit.edu	37	17	58143671	58143671	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr17:58143671G>A	ENST00000184956.6	-	9	1331	c.1315C>T	c.(1315-1317)Ctt>Ttt	p.L439F	HEATR6_ENST00000585976.1_Missense_Mutation_p.L439F	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	439							binding			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			TAGCCATAAAGAACTTTTTTT	0.388000													20	60					0	0	0.00152264	0	0
RAB11FIP4	84440	broad.mit.edu	37	17	29855689	29855689	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr17:29855689G>A	ENST00000325874.8	+	13	1775	c.1546G>A	c.(1546-1548)Gac>Aac	p.D516N	RAB11FIP4_ENST00000394744.2_Missense_Mutation_p.D414N	NM_032932.3	NP_116321.2	Q86YS3	RFIP4_HUMAN	RAB11 family interacting protein 4 (class II)	516	Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization.				cytokinesis|interspecies interaction between organisms|protein transport	cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)				GTACAAGCTGGACTGCGAGCG	0.652000													4	13					0	0	0.00024832	0	0
ALPK2	115701	broad.mit.edu	37	18	56204927	56204927	+	Missense_Mutation	SNP	G	G	A	rs142343365		TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr18:56204927G>A	ENST00000361673.3	-	5	2705	c.2492C>T	c.(2491-2493)tCg>tTg	p.S831L	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	831							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TTCTTGAGGCGAATATTTATC	0.398000													8	32					0	0	0.000978159	0	0
CYP2C9	1559	broad.mit.edu	37	10	96707585	96707585	+	Silent	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr10:96707585G>A	ENST00000260682.6	+	4	543	c.531G>A	c.(529-531)gtG>gtA	p.V177V		NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	177					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	CCTGCAATGTGATCTGCTCCA	0.328000													45	53					0	0	0.000781405	0	0
GJB7	375519	broad.mit.edu	37	6	87994192	87994192	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr6:87994192C>T	ENST00000525899.1	-	3	784	c.439G>A	c.(439-441)Gat>Aat	p.D147N	GJB7_ENST00000296882.3_Missense_Mutation_p.D147N	NM_198568.2	NP_940970.1	Q6PEY0	CXB7_HUMAN	gap junction protein, beta 7, 25kDa	147					cell communication	connexon complex|integral to membrane				endometrium(2)|large_intestine(3)	5		all_cancers(76;1.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;7.38e-10)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00323)		BRCA - Breast invasive adenocarcinoma(108;0.0167)		CTAAAGCCATCATATAGCTTA	0.403000													11	30					0	0	0.000219431	0	0
TMC1	117531	broad.mit.edu	37	9	75450881	75450881	+	Missense_Mutation	SNP	C	C	T	rs142073640	by1000genomes	TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr9:75450881C>T	ENST00000297784.5	+	24	2815	c.2275C>T	c.(2275-2277)Cgc>Tgc	p.R759C	TMC1_ENST00000396237.3_Missense_Mutation_p.R759C|TMC1_ENST00000340019.3_Missense_Mutation_p.R759C|TMC1_ENST00000486417.1_3'UTR	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	759					sensory perception of sound	integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						AGCTGCTGGTCGCCAGTAATA	0.398000													9	11					0	0	0.000442599	0	0
TFEC	22797	broad.mit.edu	37	7	115614256	115614256	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr7:115614256C>T	ENST00000265440.7	-	3	415	c.235G>A	c.(235-237)Gga>Aga	p.G79R	TFEC_ENST00000320239.7_Intron|TFEC_ENST00000393485.1_Intron|TFEC_ENST00000484212.1_Missense_Mutation_p.G169R	NM_012252.3	NP_036384.1	O14948	TFEC_HUMAN	transcription factor EC	79	Necessary for transcriptional transactivation.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			GAGTCTGCTCCTTCCTCTTTA	0.323000													15	39					0	0	0.00074312	0	0
C1QL3	389941	broad.mit.edu	37	10	16562520	16562520	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr10:16562520C>T	ENST00000298943.3	-	1	1484	c.545G>A	c.(544-546)gGg>gAg	p.G182E		NM_001010908.1	NP_001010908.1	Q5VWW1	C1QL3_HUMAN	complement component 1, q subcomponent-like 3	182	C1q.					collagen				breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	13						GGTGCCGTCCCCTCCGCGCAT	0.662000													7	7					0	0	8.12818e-05	0	0
RIMBP2	23504	broad.mit.edu	37	12	130907064	130907064	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr12:130907064C>T	ENST00000261655.4	-	13	2567	c.2404G>A	c.(2404-2406)Ggc>Agc	p.G802S		NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	802						cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		AACCTCCGGCCCATGTGATCC	0.547000													13	12					0	0	0.000308642	0	0
ZNF347	84671	broad.mit.edu	37	19	53645150	53645150	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr19:53645150G>A	ENST00000452676.2	-	5	1360	c.934C>T	c.(934-936)Cat>Tat	p.H312Y	ZNF347_ENST00000334197.7_Missense_Mutation_p.H311Y|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Missense_Mutation_p.H312Y	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN	zinc finger protein 347	311					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		TCGCCAGTATGGATCACCTGA	0.388000													52	78					0	0	0.000781405	0	0
POTEC	388468	broad.mit.edu	37	18	14511960	14511960	+	Silent	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr18:14511960G>A	ENST00000358970.5	-	11	1565	c.1566C>T	c.(1564-1566)ctC>ctT	p.L522L		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	522										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TTTCACGCAAGAGATCTTCTT	0.343000													17	31					0	0	0.00121646	0	0
ZNF16	7564	broad.mit.edu	37	8	146156457	146156457	+	Silent	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr8:146156457G>A	ENST00000276816.4	-	4	1902	c.1716C>T	c.(1714-1716)ccC>ccT	p.P572P	ZNF16_ENST00000394909.2_Silent_p.P572P	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	572					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		TACATTCATGGGGCTTCAGCC	0.453000													16	33					0	0	0.000566183	0	0
MLXIPL	51085	broad.mit.edu	37	7	73010501	73010501	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr7:73010501A>T	ENST00000313375.3	-	13	2087	c.2040T>A	c.(2038-2040)agT>agA	p.S680R	MLXIPL_ENST00000395189.1_Missense_Mutation_p.S587R|MLXIPL_ENST00000354613.1_Missense_Mutation_p.S678R|MLXIPL_ENST00000429400.2_Missense_Mutation_p.S680R|MLXIPL_ENST00000434326.1_Missense_Mutation_p.S586R|MLXIPL_ENST00000414749.2_Missense_Mutation_p.S678R	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	WBS14_HUMAN	MLX interacting protein-like	680					anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				TGGGCTGGGCACTGAGTGTGC	0.632000													11	18					0	0	0.000673444	0	0
MYO3A	53904	broad.mit.edu	37	10	26457684	26457684	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr10:26457684G>A	ENST00000265944.5	+	28	3321	c.3155G>A	c.(3154-3156)cGa>cAa	p.R1052Q	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1052					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	p.R1052Q(1)		NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						AATCTAATGCGAAAGGAAGCT	0.348000													29	41					0	0	0.000339439	0	0
FRMPD3	84443	broad.mit.edu	37	X	106788971	106788971	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chrX:106788971C>T	ENST00000276185.4	+	6	401	c.401C>T	c.(400-402)cCc>cTc	p.P134L	FRMPD3_ENST00000477796.1_3'UTR|FRMPD3-AS1_ENST00000415252.1_RNA			Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	134						cytoskeleton				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						TTCCAGTCCCCCAAATCTGCT	0.468000													5	6					0	0	0.00116845	0	0
TRAPPC9	83696	broad.mit.edu	37	8	141301106	141301106	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr8:141301106G>A	ENST00000389328.4	-	12	2148	c.2134C>T	c.(2134-2136)Cga>Tga	p.R712*	TRAPPC9_ENST00000389327.3_Nonsense_Mutation_p.R605*|TRAPPC9_ENST00000438773.2_Nonsense_Mutation_p.R614*	NM_031466.5	NP_113654.4	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	614					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						TTTTCAACTCGAAGTTCAAAC	0.373000													27	32					0	0	0.00127121	0	0
OTOGL	283310	broad.mit.edu	37	12	80672878	80672878	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr12:80672878C>T	ENST00000458043.2	+	25	2839	c.2833C>T	c.(2833-2835)Cga>Tga	p.R945*	OTOGL_ENST00000547103.1_Nonsense_Mutation_p.R945*	NM_173591.3	NP_775862.3			otogelin-like									p.R945*(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						ATACGGGGACCGACATTATTA	0.353000													48	101					0	0	0.000781405	0	0
DNAH5	1767	broad.mit.edu	37	5	13721112	13721112	+	Silent	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr5:13721112C>T	ENST00000265104.4	-	71	12380	c.12276G>A	c.(12274-12276)gcG>gcA	p.A4092A		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4092	AAA 6 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GCCTTACGTTCGCCATGGTCT	0.418000									Kartagener syndrome				18	36					0	0	0.00121646	0	0
XKR3	150165	broad.mit.edu	37	22	17280797	17280797	+	Silent	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr22:17280797G>A	ENST00000331428.5	-	3	555	c.453C>T	c.(451-453)ttC>ttT	p.F151F		NM_175878.3	NP_787074.2	Q5GH77	XKR3_HUMAN	XK, Kell blood group complex subunit-related family, member 3	151						integral to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CCCGGATTGAGAATGCAATCT	0.388000													38	75					0	0	0.00195071	0	0
KCNJ11	3767	broad.mit.edu	37	11	17409006	17409006	+	Silent	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr11:17409006G>A	ENST00000339994.4	-	1	1200	c.633C>T	c.(631-633)atC>atT	p.I211I	KCNJ11_ENST00000528731.1_Silent_p.I124I	NM_000525.3	NP_000516.3	B4DWI4	B4DWI4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 11	124						integral to membrane	ATP-activated inward rectifier potassium channel activity			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(3)|skin(2)	16				READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633)		TGGTGGCGCTGATGATCATGC	0.637000											OREG0020810	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	88	161					0	0	0.000781405	0	0
ZNF284	342909	broad.mit.edu	37	19	44590614	44590614	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr19:44590614C>T	ENST00000421176.3	+	5	1199	c.983C>T	c.(982-984)tCa>tTa	p.S328L	ZNF223_ENST00000591793.1_3'UTR	NM_001037813.2	NP_001032902.1	Q2VY69	ZN284_HUMAN	zinc finger protein 284	328					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0435)				GGTCAGAGATCAGCACTTAAT	0.378000													20	14					0	0	0.000958276	0	0
MYH3	4621	broad.mit.edu	37	17	10541696	10541696	+	Silent	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr17:10541696C>T	ENST00000583535.1	-	27	3480	c.3393G>A	c.(3391-3393)gcG>gcA	p.A1131A	MYH3_ENST00000226209.7_Silent_p.A1131A	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1131					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TCTCTGTCTTCGCGCGGGTGG	0.662000													13	23					0	0	0.000219431	0	0
CST7	8530	broad.mit.edu	37	20	24937984	24937984	+	Silent	SNP	C	C	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr20:24937984C>A	ENST00000480798.1	+	2	408	c.132C>A	c.(130-132)acC>acA	p.T44T	CST7_ENST00000376835.2_Silent_p.T66T	NM_003650.3	NP_003641.3	O76096	CYTF_HUMAN	cystatin F (leukocystatin)	44					immune response	cytoplasm|extracellular region	cysteine-type endopeptidase inhibitor activity			large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	5						CAATAAAGACCAATGACCCAG	0.453000													6	108					0.00116845	0.00851079	0.00116845	1	0
NOTCH3	4854	broad.mit.edu	37	19	15289986	15289986	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr19:15289986G>C	ENST00000263388.2	-	22	3643	c.3568C>G	c.(3568-3570)Cgc>Ggc	p.R1190G		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1190	EGF-like 30; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CAGGTGCAGCGGAAACCACCC	0.642000													4	10					0	0	0.00024832	0	0
GPR179	440435	broad.mit.edu	37	17	36495317	36495317	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr17:36495317C>T	ENST00000342292.4	-	2	906	c.886G>A	c.(886-888)Gat>Aat	p.D296N		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	296						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CTGTTGAGATCACACAGGTGT	0.587000													13	22					0	0	0.000308642	0	0
LEPR	3953	broad.mit.edu	37	1	66083654	66083654	+	Silent	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr1:66083654C>T	ENST00000349533.6	+	16	2405	c.2220C>T	c.(2218-2220)atC>atT	p.I740I	LEPR_ENST00000371059.3_Silent_p.I740I|LEPR_ENST00000371058.1_Silent_p.I740I|LEPR_ENST00000371060.3_Silent_p.I740I|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000344610.8_Silent_p.I740I	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	740	Fibronectin type-III 4.				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		CAGTAAATATCGTGCAGTCAC	0.303000													19	38					0	0	0.00121646	0	0
TGIF2LY	90655	broad.mit.edu	37	Y	3447331	3447331	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chrY:3447331G>A	ENST00000559055.2	+	1	176	c.46G>A	c.(46-48)Gaa>Aaa	p.E16K	TGIF2LY_ENST00000321217.4_Missense_Mutation_p.E16K			Q8IUE0	TF2LY_HUMAN	TGFB-induced factor homeobox 2-like, Y-linked	16						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|upper_aerodigestive_tract(1)	2						AAGCCCGGTGGAAAAAGACAG	0.517000													23	14					0	0	0.00106085	0	0
MUC16	94025	broad.mit.edu	37	19	9057172	9057172	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr19:9057172C>T	ENST00000397910.4	-	3	30477	c.30274G>A	c.(30274-30276)Gat>Aat	p.D10092N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10094	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						TTCTCTGTATCTGTGGTGACT	0.458000													17	59					0	0	0.000422831	0	0
PRRX1	5396	broad.mit.edu	37	1	170699420	170699420	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr1:170699420C>T	ENST00000367760.3	+	4	1687	c.602C>T	c.(601-603)tCc>tTc	p.S201F	PRRX1_ENST00000476867.2_Intron|PRRX1_ENST00000239461.6_Intron	NM_006902.3	NP_008833.1	P54821	PRRX1_HUMAN	paired related homeobox 1	0						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			large_intestine(2)|ovary(1)	3	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AAAAATAGATCCTCGTCCCTC	0.483000													82	118					0	0	0.000781405	0	0
NRK	203447	broad.mit.edu	37	X	105168761	105168761	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chrX:105168761G>A	ENST00000428173.2	+	19	3356	c.3053G>A	c.(3052-3054)aGa>aAa	p.R1018K	NRK_ENST00000243300.9_Missense_Mutation_p.R1017K			Q7Z2Y5	NRK_HUMAN	Nik related kinase	1017							ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						GAAGCCTACAGAGGCTATGGA	0.473000										HNSCC(51;0.14)			3	3					0	0	6.4e-05	0	0
UBE2NL	389898	broad.mit.edu	37	X	142967209	142967209	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chrX:142967209G>A	ENST00000370494.1	+	1	37	c.7G>A	c.(7-9)Gag>Aag	p.E3K		NM_001012989.1	NP_001013007.1	Q5JXB2	UE2NL_HUMAN	ubiquitin-conjugating enzyme E2N-like	3							acid-amino acid ligase activity			breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(192;6.56e-05)					TCTGATGGCCGAGCTGCCCCA	0.433000													22	13					0	0	0.000586117	0	0
PARVG	64098	broad.mit.edu	37	22	44579262	44579262	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr22:44579262C>T	ENST00000422871.1	+	3	477	c.53C>T	c.(52-54)cCc>cTc	p.P18L	PARVG_ENST00000415224.1_Missense_Mutation_p.P18L|PARVG_ENST00000466375.2_Missense_Mutation_p.P18L|PARVG_ENST00000453888.3_3'UTR|PARVG_ENST00000444313.2_Missense_Mutation_p.P18L	NM_001137605.1	NP_001131077.1	Q9HBI0	PARVG_HUMAN	parvin, gamma	18					cell-matrix adhesion	cytoplasm|cytoskeleton|focal adhesion	actin binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17		Ovarian(80;0.024)|all_neural(38;0.0299)				GGGGTGGAGCCCCCAGCGGAG	0.647000													5	9					0	0	8.12818e-05	0	0
IFNL1	282618	broad.mit.edu	37	19	39787462	39787462	+	Silent	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr19:39787462G>A	ENST00000333625.2	+	2	286	c.189G>A	c.(187-189)ctG>ctA	p.L63L		NM_172140.1	NP_742152.1			interferon, lambda 1																		CACTCAAGCTGAAAAACTGGA	0.562000													26	14					0	0	0.000878237	0	0
PCDH15	65217	broad.mit.edu	37	10	55945005	55945005	+	Silent	SNP	A	A	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr10:55945005A>T	ENST00000373965.2	-	13	1744	c.1350T>A	c.(1348-1350)ctT>ctA	p.L450L	PCDH15_ENST00000320301.6_Silent_p.L443L|PCDH15_ENST00000361849.3_Silent_p.L443L|PCDH15_ENST00000395446.1_Silent_p.L443L|PCDH15_ENST00000414778.1_Silent_p.L448L|PCDH15_ENST00000395430.1_Silent_p.L443L|PCDH15_ENST00000373957.3_Silent_p.L421L|PCDH15_ENST00000373955.1_Silent_p.L443L|PCDH15_ENST00000395438.1_Silent_p.L443L|PCDH15_ENST00000395445.1_Silent_p.L450L|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395432.2_Silent_p.L406L|PCDH15_ENST00000437009.1_Silent_p.L443L|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000409834.1_Silent_p.L54L|PCDH15_ENST00000395433.1_Silent_p.L421L	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	443	Cadherin 4.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CATTCAGAAAAAGGTGAAGCT	0.383000										HNSCC(58;0.16)			21	24					0	0	0.000586117	0	0
METTL4	64863	broad.mit.edu	37	18	2567121	2567121	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr18:2567121G>A	ENST00000319888.6	-	2	893	c.95C>T	c.(94-96)cCt>cTt	p.P32L	METTL4_ENST00000574538.1_Missense_Mutation_p.P32L			Q8N3J2	METL4_HUMAN	methyltransferase like 4	32					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		methyltransferase activity|nucleic acid binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						ACGGCAACAAGGTTCATGATG	0.418000													14	40					0	0	0.000219431	0	0
CCT8L2	150160	broad.mit.edu	37	22	17073042	17073042	+	Silent	SNP	C	C	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr22:17073042C>A	ENST00000359963.3	-	1	658	c.399G>T	c.(397-399)cgG>cgT	p.R133R		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	133					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CGTAGGCCTCCCGGAGCTGCG	0.647000													11	15					1.15088e-07	8.53033e-07	0.000422831	1	0
PTPN13	5783	broad.mit.edu	37	4	87705706	87705706	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr4:87705706C>T	ENST00000436978.1	+	38	6608	c.6128C>T	c.(6127-6129)cCc>cTc	p.P2043L	PTPN13_ENST00000427191.2_Missense_Mutation_p.P2019L|PTPN13_ENST00000316707.6_Missense_Mutation_p.P1847L|PTPN13_ENST00000411767.2_Missense_Mutation_p.P2038L|PTPN13_ENST00000511467.1_Missense_Mutation_p.P2043L	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)	2038						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)		TTGACTCTGCCCAAAGGTAGT	0.328000													13	25					0	0	0.000308642	0	0
PITPNM2	57605	broad.mit.edu	37	12	123489030	123489030	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr12:123489030G>A	ENST00000280562.5	-	7	1164	c.959C>T	c.(958-960)cCt>cTt	p.P320L	PITPNM2_ENST00000320201.4_Missense_Mutation_p.P320L|PITPNM2_ENST00000392428.1_Intron|PITPNM2_ENST00000451868.2_5'UTR|PITPNM2_ENST00000542749.1_Missense_Mutation_p.P320L|PITPNM2_ENST00000546049.1_Missense_Mutation_p.P358L			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	320					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		GTGGCGGGAAGGACTCGCTGG	0.617000													7	14					0	0	0.000274275	0	0
TMC5	79838	broad.mit.edu	37	16	19490759	19490759	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr16:19490759G>A	ENST00000396229.2	+	14	2925	c.2176G>A	c.(2176-2178)Gaa>Aaa	p.E726K	TMC5_ENST00000564959.1_Missense_Mutation_p.E409K|TMC5_ENST00000219821.5_Missense_Mutation_p.E480K|TMC5_ENST00000541464.1_Missense_Mutation_p.E674K|TMC5_ENST00000542583.2_Missense_Mutation_p.E726K|CTA-363E6.6_ENST00000561762.1_RNA|TMC5_ENST00000381414.4_Missense_Mutation_p.E726K|TMC5_ENST00000561503.1_Missense_Mutation_p.E367K	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	726						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CCAGTGTTGGGAAACCCTCAT	0.493000													48	133					0	0	0.000781405	0	0
TRBV11-2	28581	broad.mit.edu	37	7	142197820	142197820	+	RNA	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr7:142197820C>T	ENST00000471935.1	-	0	157																											TGCCTTTTCTCTATAATCTTA	0.438000													13	16					0	0	0.000219431	0	0
AGFG1	3267	broad.mit.edu	37	2	228419201	228419201	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr2:228419201C>T	ENST00000310078.7	+	13	1939	c.1679C>T	c.(1678-1680)cCt>cTt	p.P560L	AGFG1_ENST00000409315.1_Missense_Mutation_p.P539L|AGFG1_ENST00000373671.3_Missense_Mutation_p.P520L|AGFG1_ENST00000409979.2_Missense_Mutation_p.P582L|AGFG1_ENST00000409171.1_Missense_Mutation_p.P558L	NM_001135188.1|NM_004504.4	NP_001128660.1|NP_004495.2	P52594	AGFG1_HUMAN	ArfGAP with FG repeats 1	560					cell differentiation|mRNA export from nucleus|multicellular organismal development|regulation of ARF GTPase activity|spermatogenesis	cytoplasmic membrane-bounded vesicle|Golgi apparatus|nuclear pore	ARF GTPase activator activity|DNA binding|protein binding|RNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(2)|ovary(1)|prostate(1)|skin(4)|stomach(1)	18						TCAACCAATCCTTTCTTATAG	0.368000													21	29					0	0	0.00047179	0	0
ABCB5	340273	broad.mit.edu	37	7	20768024	20768024	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr7:20768024G>A	ENST00000404938.2	+	23	3465	c.2813G>A	c.(2812-2814)cGa>cAa	p.R938Q	ABCB5_ENST00000258738.6_Missense_Mutation_p.R493Q	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	493					regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						GCAGGGTTTCGATTTGGAGCC	0.433000													22	45					0	0	0.000295444	0	0
FAM110C	642273	broad.mit.edu	37	2	46017	46017	+	Silent	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr2:46017C>T	ENST00000327669.4	-	1	368	c.369G>A	c.(367-369)gtG>gtA	p.V123V		NM_001077710.2	NP_001071178.2	Q1W6H9	F110C_HUMAN	family with sequence similarity 110, member C	123						microtubule|microtubule organizing center|spindle pole				central_nervous_system(1)|kidney(1)|lung(2)	4	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00221)		all cancers(51;0.000815)|Epithelial(75;0.00379)|OV - Ovarian serous cystadenocarcinoma(76;0.0127)|GBM - Glioblastoma multiforme(21;0.232)		AGAGCTTCTTCACCAGGCTTG	0.672000													8	6					0	0	0.000978159	0	0
PTPRD	5789	broad.mit.edu	37	9	8486102	8486102	+	Silent	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr9:8486102C>T	ENST00000381196.4	-	25	3258	c.2715G>A	c.(2713-2715)gaG>gaA	p.E905E	PTPRD_ENST00000540109.1_Silent_p.E905E|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000360074.4_Silent_p.E892E|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000356435.5_Silent_p.E905E|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000358503.5_Silent_p.E883E|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000397617.3_Intron	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	905	Fibronectin type-III 6.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TCACCATCTCCTCCCCAAAGC	0.463000										TSP Lung(15;0.13)			8	13					0	0	0.000157383	0	0
MUC16	94025	broad.mit.edu	37	19	9061944	9061944	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr19:9061944G>A	ENST00000397910.4	-	3	25705	c.25502C>T	c.(25501-25503)tCt>tTt	p.S8501F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8503	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						AGCCCCAGGAGAACCTGTCTC	0.488000													47	93					0	0	0.000781405	0	0
GRM6	2916	broad.mit.edu	37	5	178413416	178413416	+	Silent	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr5:178413416C>T	ENST00000231188.5	-	8	2017	c.1839G>A	c.(1837-1839)acG>acA	p.T613T	RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000517717.1_Silent_p.T613T	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	613					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		GGACGATGGGCGTGTTGTTGT	0.677000													5	17					0	0	0.00116845	0	0
HCN4	10021	broad.mit.edu	37	15	73615254	73615254	+	Silent	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr15:73615254G>A	ENST00000261917.3	-	8	4173	c.3180C>T	c.(3178-3180)ccC>ccT	p.P1060P		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	1060	Pro-rich.				blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		GGGGTGGTGGGGGGCTGGATG	0.741000													7	4					0	0	8.12818e-05	0	0
FGFR3	2261	broad.mit.edu	37	4	1808278	1808278	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr4:1808278C>T	ENST00000340107.4	+	16	2298	c.2042C>T	c.(2041-2043)tCc>tTc	p.S681F	FGFR3_ENST00000352904.1_Missense_Mutation_p.S567F|FGFR3_ENST00000260795.2_Missense_Mutation_p.S679F|FGFR3_ENST00000440486.2_Missense_Mutation_p.S679F|FGFR3_ENST00000481110.2_Silent_p.V656V|FGFR3_ENST00000412135.2_Missense_Mutation_p.S567F	NM_001163213.1	NP_001156685.1	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	679	Protein kinase.				bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	TGCAGCTGGTCCTTTGGGGTC	0.672000		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome				7	16					0	0	0.000157383	0	0
ZNF773	374928	broad.mit.edu	37	19	58018621	58018621	+	Silent	SNP	T	T	G			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr19:58018621T>G	ENST00000282292.4	+	4	1298	c.1158T>G	c.(1156-1158)ccT>ccG	p.P386P	ZNF773_ENST00000598770.1_Silent_p.P385P|ZNF773_ENST00000593916.1_Intron|ZNF773_ENST00000599847.1_Intron	NM_198542.1	NP_940944.1	Q6PK81	ZN773_HUMAN	zinc finger protein 773	386					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22		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;0.0254)		GAGAAAAACCTTTTAAGTGCA	0.423000													22	60					0	0	0.000375601	0	0
GPR141	353345	broad.mit.edu	37	7	37780794	37780794	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr7:37780794G>A	ENST00000447769.1	+	4	1088	c.799G>A	c.(799-801)Gaa>Aaa	p.E267K	GPR141_ENST00000461610.1_Intron|GPR141_ENST00000334425.1_Missense_Mutation_p.E267K|EPDR1_ENST00000476620.1_Intron			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	267						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ATTTTATAACGAAATCTTCTT	0.383000													22	61					0	0	0.00188189	0	0
SLC16A3	9123	broad.mit.edu	37	17	80196778	80196778	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr17:80196778G>A	ENST00000581287.1	+	4	3646	c.1324G>A	c.(1324-1326)Gag>Aag	p.E442K	SLC16A3_ENST00000392339.1_Missense_Mutation_p.E442K|SLC16A3_ENST00000392341.1_Missense_Mutation_p.E442K|SLC16A3_ENST00000582743.1_Missense_Mutation_p.E442K	NM_001206951.1|NM_001206952.1	NP_001193880.1|NP_001193881.1	O15427	MOT4_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 3	442					blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	actin cytoskeleton|integral to plasma membrane|membrane fraction|nuclear membrane	secondary active monocarboxylate transmembrane transporter activity|symporter activity			endometrium(2)|kidney(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	Breast(20;0.00285)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0149)		Pyruvic acid(DB00119)	GGACTTGCGGGAGGTGGAGCA	0.627000													22	73					0	0	0.000586117	0	0
RPH3A	22895	broad.mit.edu	37	12	113314479	113314479	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr12:113314479C>T	ENST00000389385.4	+	13	1476	c.979C>T	c.(979-981)Cca>Tca	p.P327S	RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000420983.2_Missense_Mutation_p.P327S|RPH3A_ENST00000543106.2_Missense_Mutation_p.P327S|RPH3A_ENST00000447659.2_Missense_Mutation_p.P278S|RPH3A_ENST00000415485.3_Missense_Mutation_p.P327S|RPH3A_ENST00000548866.1_Missense_Mutation_p.P278S|RPH3A_ENST00000551052.1_Missense_Mutation_p.P323S	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A homolog (mouse)	327	Pro-rich.				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding	p.P323S(1)		breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		GACCACTGCCCCACCCCGAGA	0.612000													4	9					0	0	0.00024832	0	0
LHX8	431707	broad.mit.edu	37	1	75608860	75608860	+	Silent	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr1:75608860C>T	ENST00000294638.5	+	6	1111	c.447C>T	c.(445-447)gtC>gtT	p.V149V	LHX8_ENST00000356261.3_Silent_p.V139V	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN	LIM homeobox 8	149	LIM zinc-binding 2.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						CTGACTGGGTCCGGAGAGCCA	0.468000													24	53					0	0	0.001512	0	0
MGAM	8972	broad.mit.edu	37	7	141752712	141752712	+	Silent	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr7:141752712C>T	ENST00000475668.2	+	26	3141	c.3087C>T	c.(3085-3087)gcC>gcT	p.A1029A	MGAM_ENST00000549489.2_Silent_p.A1029A			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1029					polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ATGCCAATGCCTTCCCCTCCA	0.463000													22	46					0	0	0.000375601	0	0
IGHA1	3493	broad.mit.edu	37	14	106174821	106174821	+	RNA	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr14:106174821C>T	ENST00000390547.2	-	0	181																											GTACAGGTCCCCGGAGGCATC	0.642000													10	34					0	0	0.000673444	0	0
ANK3	288	broad.mit.edu	37	10	61832871	61832871	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr10:61832871C>T	ENST00000280772.1	-	37	7959	c.7768G>A	c.(7768-7770)Gaa>Aaa	p.E2590K	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2590					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TGTGACACTTCAGTCAGTTTT	0.418000													21	18					0	0	0.00152264	0	0
BOD1L1	259282	broad.mit.edu	37	4	13606585	13606585	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr4:13606585C>A	ENST00000040738.5	-	10	2074	c.1939G>T	c.(1939-1941)Gaa>Taa	p.E647*		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	647	Lys-rich.						DNA binding	p.E647*(1)									AATTTGGATTCATTTTTGTTT	0.408000													21	43					1.96292e-10	1.4592e-09	0.00152264	1	0
ULK2	9706	broad.mit.edu	37	17	19700741	19700741	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr17:19700741G>A	ENST00000395544.4	-	18	2276	c.1777C>T	c.(1777-1779)Cct>Tct	p.P593S	ULK2_ENST00000361658.2_Missense_Mutation_p.P593S	NM_014683.3	NP_055498.3	Q8IYT8	ULK2_HUMAN	unc-51 like autophagy activating kinase 2	593					signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity			large_intestine(1)|skin(4)|stomach(1)	6	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					GTTGGCAAAGGAGTTTTAAAG	0.468000													8	19					0	0	0.000157383	0	0
MUC17	140453	broad.mit.edu	37	7	100679671	100679671	+	Silent	SNP	C	C	T	rs140736378	byFrequency	TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr7:100679671C>T	ENST00000306151.4	+	3	5038	c.4974C>T	c.(4972-4974)tcC>tcT	p.S1658S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1658	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CTGTTGACTCCAACAGTCCTG	0.488000													7	197					0	0	0.000274275	0	0
TRAV9-1	28678	broad.mit.edu	37	14	22280042	22280042	+	RNA	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr14:22280042G>A	ENST00000390431.3	+	0	231																											ACAAGGGAAGGAACAAAGGTT	0.463000													5	33					0	0	0.000602214	0	0
SCRG1	11341	broad.mit.edu	37	4	174309545	174309545	+	Splice_Site	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr4:174309545C>T	ENST00000296506.2	-	3	726	c.242_splice	c.e3-1	p.D82_splice		NM_007281.2	NP_009212.1	O75711	SCRG1_HUMAN	stimulator of chondrogenesis 1	82					nervous system development	extracellular space				large_intestine(1)|lung(4)|skin(1)	6		Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107)		all cancers(43;1.15e-17)|Epithelial(43;4.33e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.62e-09)|STAD - Stomach adenocarcinoma(60;0.00278)|GBM - Glioblastoma multiforme(59;0.00659)|LUSC - Lung squamous cell carcinoma(193;0.0919)		AAGAAAACGTCTCTGAAAGAA	0.348000													20	67					0	0	0.00047179	0	0
SERPINB11	89778	broad.mit.edu	37	18	61390314	61390314	+	RNA	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr18:61390314C>T	ENST00000544088.1	+	0	922				SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000382749.5_RNA	NM_080475.2	NP_536723.2	Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)						regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				GTACACCTCCCCCGATTCAAA	0.413000													6	9					0	0	0.000157383	0	0
OR4K17	390436	broad.mit.edu	37	14	20585694	20585694	+	Silent	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr14:20585694C>T	ENST00000315543.4	+	1	129	c.129C>T	c.(127-129)ttC>ttT	p.F43F		NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K, member 17	15					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		TGTCAGAATTCATTTTGCTGG	0.423000													49	79					0	0	0.000781405	0	0
TCEAL5	340543	broad.mit.edu	37	X	102528903	102528903	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chrX:102528903G>A	ENST00000372680.1	-	3	883	c.589C>T	c.(589-591)Cag>Tag	p.Q197*		NM_001012979.2	NP_001012997.1	Q5H9L2	TCAL5_HUMAN	transcription elongation factor A (SII)-like 5	197					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.Q197K(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						AAGTCTTTCTGGCCCCTACCT	0.493000													22	14					0	0	0.000375601	0	0
ANK3	288	broad.mit.edu	37	10	61865804	61865804	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr10:61865804C>T	ENST00000280772.1	-	28	3378	c.3187G>A	c.(3187-3189)Gaa>Aaa	p.E1063K	ANK3_ENST00000355288.2_Missense_Mutation_p.E197K|ANK3_ENST00000503366.1_Missense_Mutation_p.E1064K|ANK3_ENST00000373827.2_Missense_Mutation_p.E1057K	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1063	ZU5.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TGAGGGATTTCCACTATGACA	0.338000													6	6					0	0	8.12818e-05	0	0
SVIL	6840	broad.mit.edu	37	10	29759209	29759209	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr10:29759209C>T	ENST00000375398.2	-	34	6288	c.5839G>A	c.(5839-5841)Gaa>Aaa	p.E1947K	PTCHD3P1_ENST00000413405.1_RNA|PTCHD3P1_ENST00000423223.1_RNA|SVIL_ENST00000535393.1_Missense_Mutation_p.E861K|SVIL_ENST00000375400.3_Missense_Mutation_p.E1521K|SVIL_ENST00000355867.4_Missense_Mutation_p.E1947K|PTCHD3P1_ENST00000414457.1_RNA|PTCHD3P1_ENST00000446807.1_RNA			O95425	SVIL_HUMAN	supervillin	1947					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				ACTCACTGTTCCTTGATCTTG	0.617000													14	33					0	0	0.000958276	0	0
ASXL1	171023	broad.mit.edu	37	20	31024547	31024547	+	Silent	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr20:31024547C>T	ENST00000375687.4	+	13	4456	c.4032C>T	c.(4030-4032)tcC>tcT	p.S1344S	ASXL1_ENST00000306058.5_Silent_p.S1339S	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 (Drosophila)	1344					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						GCACAAACTCCATGTCTGGTG	0.572000			"""F, N, Mis"""		"""MDS, CMML"""								12	31					0	0	0.00185496	0	0
FPR1	2357	broad.mit.edu	37	19	52249846	52249846	+	Silent	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr19:52249846C>T	ENST00000595042.1	-	3	543	c.402G>A	c.(400-402)caG>caA	p.Q134Q	FPR1_ENST00000304748.4_Silent_p.Q134Q	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN	formyl peptide receptor 1	134					activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	TGCGGTGGTTCTGGGTCCAGA	0.537000													18	29					0	0	0.00152264	0	0
KDR	3791	broad.mit.edu	37	4	55964962	55964962	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr4:55964962C>T	ENST00000263923.4	-	16	2570	c.2275G>A	c.(2275-2277)Gaa>Aaa	p.E759K		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	759					angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	TTCGTCTTTTCCTGGGCACCT	0.408000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			14	31					0	0	0.000219431	0	0
TTC7B	145567	broad.mit.edu	37	14	91059907	91059907	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr14:91059907G>A	ENST00000357056.2	-	19	2202	c.2081C>T	c.(2080-2082)tCg>tTg	p.S694L	TTC7B_ENST00000554654.1_5'UTR|TTC7B_ENST00000328459.6_Missense_Mutation_p.S677L			Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	677							binding			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				CTGCAGAGACGAAGCCACTTC	0.602000													13	38					0	0	0.00136819	0	0
ST5	6764	broad.mit.edu	37	11	8728700	8728700	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr11:8728700C>T	ENST00000534127.1	-	16	2888	c.2503G>A	c.(2503-2505)Gag>Aag	p.E835K	ST5_ENST00000530991.1_Missense_Mutation_p.E307K|ST5_ENST00000526757.1_Missense_Mutation_p.E415K|ST5_ENST00000313726.6_Missense_Mutation_p.E835K|ST5_ENST00000534278.1_Missense_Mutation_p.E26K|ST5_ENST00000530438.1_Missense_Mutation_p.E415K|ST5_ENST00000526099.1_Missense_Mutation_p.E348K|ST5_ENST00000357665.1_Missense_Mutation_p.E835K|RPL27A_ENST00000531102.1_Intron	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	835	DENN.				positive regulation of ERK1 and ERK2 cascade		protein binding			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		AAGGGCGACTCCATGAGACTT	0.582000													12	25					0	0	0.00136819	0	0
ITGA8	8516	broad.mit.edu	37	10	15649789	15649789	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr10:15649789C>T	ENST00000378076.3	-	17	2004	c.1651G>A	c.(1651-1653)Gga>Aga	p.G551R		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	551					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						TTAATAGCTCCTTTCTGTTTC	0.433000													18	39					0	0	0.000958276	0	0
TLR3	7098	broad.mit.edu	37	4	187004904	187004904	+	Silent	SNP	G	G	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr4:187004904G>T	ENST00000296795.2	+	4	2168	c.2064G>T	c.(2062-2064)gtG>gtT	p.V688V	TLR3_ENST00000504367.1_Silent_p.V411V	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	688	LRRCT.				activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		GGTTCCCAGTGAGACTTTTTG	0.413000													10	201					0.000978159	0.00716608	0.000978159	1	0
CLYBL	171425	broad.mit.edu	37	13	100517131	100517131	+	Silent	SNP	C	C	T	rs141341905		TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr13:100517131C>T	ENST00000376355.3	+	4	529	c.498C>T	c.(496-498)gtC>gtT	p.V166V	CLYBL_ENST00000339105.4_Silent_p.V200V|CLYBL_ENST00000376354.1_Silent_p.V166V|CLYBL_ENST00000444838.2_Silent_p.V166V|CLYBL_ENST00000376360.1_Silent_p.V200V	NM_206808.2	NP_996531.1	Q8N0X4	CLYBL_HUMAN	citrate lyase beta like	200					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)					TAGATGCAGTCGTTTTTGGAG	0.438000													28	46					0	0	0.000491102	0	0
NFASC	23114	broad.mit.edu	37	1	204985601	204985601	+	Silent	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr1:204985601G>A	ENST00000367172.4	+	32	4306	c.3978G>A	c.(3976-3978)gaG>gaA	p.E1326E	NFASC_ENST00000404907.1_Silent_p.E1153E|NFASC_ENST00000367170.4_Silent_p.E1247E|NFASC_ENST00000367169.4_Silent_p.E1050E|NFASC_ENST00000539706.1_Silent_p.E1153E|NFASC_ENST00000513543.1_Silent_p.E1148E|NFASC_ENST00000404076.1_Silent_p.E1136E|NFASC_ENST00000338515.6_Silent_p.E1236E|NFASC_ENST00000339876.6_Silent_p.E1219E|NFASC_ENST00000401399.1_Silent_p.E1219E|NFASC_ENST00000338586.6_Silent_p.E1203E|NFASC_ENST00000367171.4_Silent_p.E1311E|NFASC_ENST00000360049.4_Silent_p.E1148E|NFASC_ENST00000495396.1_3'UTR			O94856	NFASC_HUMAN	neurofascin	1326					axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			AGGACAAGGAGGAAACAGAGG	0.562000													10	34					0	0	0.00136819	0	0
TLE6	79816	broad.mit.edu	37	19	2989288	2989288	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr19:2989288C>T	ENST00000246112.4	+	12	1171	c.970C>T	c.(970-972)Cct>Tct	p.P324S	TLE6_ENST00000452088.1_Missense_Mutation_p.P201S|TLE6_ENST00000478073.2_3'UTR	NM_001143986.1	NP_001137458.1	Q9H808	TLE6_HUMAN	transducin-like enhancer of split 6 (E(sp1) homolog, Drosophila)	201					regulation of transcription, DNA-dependent	nucleus				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1)	10				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)		GGACAGGTTCCCTGAGAGCCA	0.607000													11	23					0	0	0.000673444	0	0
C6orf10	10665	broad.mit.edu	37	6	32261331	32261331	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr6:32261331C>T	ENST00000375015.4	-	26	1316	c.1116G>A	c.(1114-1116)atG>atA	p.M372I	C6orf10_ENST00000442822.2_Missense_Mutation_p.M364I|C6orf10_ENST00000533191.1_Missense_Mutation_p.M371I|C6orf10_ENST00000447241.2_Missense_Mutation_p.M373I|C6orf10_ENST00000527965.1_Missense_Mutation_p.M357I|C6orf10_ENST00000375007.4_Missense_Mutation_p.M371I			Q5SRN2	CF010_HUMAN	chromosome 6 open reading frame 10	373						integral to membrane				cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						TTGGCACACCCATCTCACTCT	0.493000													29	83					0	0	0.000339439	0	0
CTTN	2017	broad.mit.edu	37	11	70265886	70265886	+	Silent	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr11:70265886C>T	ENST00000346329.3	+	9	911	c.603C>T	c.(601-603)atC>atT	p.I201I	CTTN_ENST00000376561.3_Silent_p.I201I|CTTN_ENST00000301843.8_Silent_p.I201I	NM_138565.2	NP_612632.1	Q14247	SRC8_HUMAN	cortactin	201						cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		AATACGGTATCGACAAGGACA	0.418000													20	48					0	0	0.000295444	0	0
DST	667	broad.mit.edu	37	6	56482102	56482102	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr6:56482102C>T	ENST00000370765.6	-	24	6270	c.6163G>A	c.(6163-6165)Gga>Aga	p.G2055R	DST_ENST00000244364.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000370769.4_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	1459					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TTCTTGAGTCCACCAGATGCT	0.428000													55	121					0	0	0.000781405	0	0
BSG	682	broad.mit.edu	37	19	580426	580426	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr19:580426C>T	ENST00000333511.3	+	4	690	c.620C>T	c.(619-621)cCc>cTc	p.P207L	BSG_ENST00000346916.4_Missense_Mutation_p.P27L|BSG_ENST00000545507.2_5'UTR|BSG_ENST00000353555.4_Missense_Mutation_p.P91L	NM_001728.3	NP_001719.2	P35613	BASI_HUMAN	basigin	207	Ig-like C2-type.				blood coagulation|cell surface receptor linked signaling pathway|leukocyte migration|pyruvate metabolic process	Golgi membrane|integral to membrane|melanosome	lactate transmembrane transporter activity|mannose binding|protein binding			central_nervous_system(1)|endometrium(3)|lung(1)	5		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|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)		GTCTTCCTCCCCGAGCCCATG	0.657000													11	14					0	0	0.000673444	0	0
VEGFC	7424	broad.mit.edu	37	4	177632734	177632734	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr4:177632734G>A	ENST00000280193.2	-	4	1038	c.623C>T	c.(622-624)tCc>tTc	p.S208F	VEGFC_ENST00000507638.1_5'UTR	NM_005429.2	NP_005420.1	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	208					angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity			biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		GCATCGGCAGGAAGTGTGATT	0.393000													41	108					0	0	0.000781405	0	0
OTUD6A	139562	broad.mit.edu	37	X	69282951	69282951	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chrX:69282951G>A	ENST00000338352.2	+	1	611	c.577G>A	c.(577-579)Gag>Aag	p.E193K		NM_207320.1	NP_997203.1	Q7L8S5	OTU6A_HUMAN	OTU domain containing 6A	193	OTU.									autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1)	23						CAGCAACCCCGAGACCAGCGA	0.617000													17	6					0	0	0.00121646	0	0
USHBP1	83878	broad.mit.edu	37	19	17373783	17373783	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr19:17373783C>T	ENST00000252597.3	-	4	393	c.220G>A	c.(220-222)Gat>Aat	p.D74N	USHBP1_ENST00000431146.2_Missense_Mutation_p.D10N|USHBP1_ENST00000598570.1_5'UTR	NM_031941.3	NP_114147.2	Q8N6Y0	USBP1_HUMAN	Usher syndrome 1C binding protein 1	74							PDZ domain binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						GAGCCCCCATCCATCTTCTTG	0.547000													20	27					0	0	0.00121646	0	0
DHDH	27294	broad.mit.edu	37	19	49442734	49442734	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr19:49442734C>T	ENST00000221403.2	+	4	435	c.395C>T	c.(394-396)tCc>tTc	p.S132F	DHDH_ENST00000522614.1_Missense_Mutation_p.S132F|DHDH_ENST00000523250.1_Intron	NM_014475.3	NP_055290.1	Q9UQ10	DHDH_HUMAN	dihydrodiol dehydrogenase (dimeric)	132					carbohydrate metabolic process		binding|D-xylose 1-dehydrogenase (NADP+) activity|electron carrier activity|NAD(P)+ transhydrogenase activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity			central_nervous_system(1)|large_intestine(3)|lung(3)|ovary(1)|soft_tissue(1)	9		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000158)|all cancers(93;0.000258)|Epithelial(262;0.0173)|GBM - Glioblastoma multiforme(486;0.0179)		TTTCCTGCCTCCGAGGCTCTG	0.567000													26	61					0	0	0.00178596	0	0
VSTM2A	222008	broad.mit.edu	37	7	54610462	54610462	+	Silent	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr7:54610462C>T	ENST00000302287.3	+	1	445	c.39C>T	c.(37-39)ttC>ttT	p.F13F	VSTM2A_ENST00000402613.3_Silent_p.F13F|VSTM2A_ENST00000407838.3_Silent_p.F13F|VSTM2A_ENST00000402026.2_Silent_p.F12F|VSTM2A_ENST00000404951.1_Silent_p.F13F			Q8TAG5	VTM2A_HUMAN	V-set and transmembrane domain containing 2A	13						extracellular region				endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16			STAD - Stomach adenocarcinoma(5;0.0525)			GATTTGTTTTCTTTTCCGTTT	0.428000													34	87					0	0	0.000692331	0	0
ENPP3	5169	broad.mit.edu	37	6	131995465	131995465	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr6:131995465C>T	ENST00000427148.2	+	9	1015	c.704C>T	c.(703-705)tCt>tTt	p.S235F	ENPP3_ENST00000543135.1_Intron|ENPP3_ENST00000358229.5_Intron|ENPP3_ENST00000414305.1_Intron|ENPP3_ENST00000357639.3_Intron			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	744	Phosphodiesterase.				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		ACCTCCATTTCTCAGTGTGAC	0.443000													7	20					0	0	8.12818e-05	0	0
SNORD115-43	100033817	broad.mit.edu	37	15	25494411	25494411	+	RNA	SNP	G	G	A			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr15:25494411G>A	ENST00000365503.1	+	0	67					NR_003303.1|NR_003344.1|NR_003351.1|NR_003358.1																						TGCTCAATAGGATTACGCTGA	0.488000													66	144					0	0	0.000781405	0	0
CEACAM18	729767	broad.mit.edu	37	19	51984672	51984672	+	Silent	SNP	C	C	T			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr19:51984672C>T	ENST00000396477.4	+	3	447	c.426C>T	c.(424-426)tcC>tcT	p.S142S	CEACAM18_ENST00000451626.1_Silent_p.S203S	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18	203						integral to membrane				breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TGGGCATCTCCGTCAATGCCA	0.517000													9	30					0	0	0.000978159	0	0
ZNF438	220929	broad.mit.edu	37	10	31134453	31134453	+	Missense_Mutation	SNP	C	C	T	rs35170728		TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr10:31134453C>T	ENST00000538351.1	-	8	2531	c.1777G>A	c.(1777-1779)Gaa>Aaa	p.E593K	ZNF438_ENST00000436087.2_Missense_Mutation_p.E642K|ZNF438_ENST00000444692.2_Missense_Mutation_p.E632K|ZNF438_ENST00000375311.1_Missense_Mutation_p.E206K|ZNF438_ENST00000442986.1_Missense_Mutation_p.E642K|ZNF438_ENST00000452305.1_Missense_Mutation_p.E632K|ZNF438_ENST00000413025.1_Missense_Mutation_p.E642K|ZNF438_ENST00000361310.3_Missense_Mutation_p.E642K|ZNF438_ENST00000331737.6_Missense_Mutation_p.E632K	NM_001143769.1	NP_001137241.1	Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	642					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				AATTTGACTTCGTCTGCCTGG	0.358000													18	44					0	0	0.00121646	0	0
C1orf173	127254	broad.mit.edu	37	1	75055687	75055687	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr1:75055687delC	ENST00000326665.5	-	12	2022	c.1804delG	c.(1804-1806)acfs	p.D602fs	C1orf173_ENST00000420661.2_Frame_Shift_Del_p.D405fs|RP4-612J11.1_ENST00000416017.1_RNA	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	602	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GCTTCCCTGTCCCCCACTGCA	0.443													13	36	---	---	---	---					
KIAA1324	57535	broad.mit.edu	37	1	109716417	109716418	+	Frame_Shift_Ins	INS	-	-	GA			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr1:109716417_109716418insGA	ENST00000369939.3	+	7	1093_1094	c.910_911insGA	c.(910-912)agafs	p.R304fs	KIAA1324_ENST00000529753.1_Intron	NM_020775.4	NP_065826.2	Q6UXG2	K1324_HUMAN	KIAA1324	304					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)		TTCAAATAAAGGAGAAACTTCT	0.475													69	193	---	---	---	---					
INHA	3623	broad.mit.edu	37	2	220437118	220437118	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr2:220437118delT	ENST00000243786.2	+	1	202	c.22delT	c.(22-24)tcfs	p.F8fs	INHA_ENST00000489456.1_Intron	NM_002191.3	NP_002182.1	P05111	INHA_HUMAN	inhibin, alpha	8					cell cycle arrest|cell surface receptor linked signaling pathway|cell-cell signaling|erythrocyte differentiation|hemoglobin biosynthetic process|induction of apoptosis|negative regulation of B cell differentiation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|regulation of cell proliferation|response to external stimulus|skeletal system development	inhibin A complex|inhibin-betaglycan-ActRII complex	cytokine activity|growth factor activity|hormone activity|signal transducer activity			large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10		Renal(207;0.0183)		Epithelial(149;4.58e-07)|all cancers(144;4.31e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		CCTACTGCTCTTCTTGCTGCT	0.642											OREG0003991	type=REGULATORY REGION|Gene=BC045558|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	17	20	---	---	---	---					
SCLY	51540	broad.mit.edu	37	2	239005464	239005464	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr2:239005464delC	ENST00000254663.6	+	11	1297	c.1155delC	c.(1153-1155)tgfs	p.C385fs	SCLY_ENST00000555827.1_Frame_Shift_Del_p.C377fs|SCLY_ENST00000429612.2_Frame_Shift_Del_p.C171fs|SCLY_ENST00000422984.2_Frame_Shift_Del_p.C283fs	NM_016510.5	NP_057594.4	Q96I15	SCLY_HUMAN	selenocysteine lyase	377					cellular amino acid metabolic process	cytosol	pyridoxal phosphate binding|selenocysteine lyase activity|transferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	22		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;1.37e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.6e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.25e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000128)|Lung(119;0.0118)|LUSC - Lung squamous cell carcinoma(224;0.0285)		TTGCGCAGTGCCGAGTGCTGA	0.667													2	4	---	---	---	---					
SLC33A1	9197	broad.mit.edu	37	3	155560378	155560378	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr3:155560378delA	ENST00000392845.2	-	2	1186	c.806delT	c.(805-807)tafs	p.L269fs	SLC33A1_ENST00000359479.3_Frame_Shift_Del_p.L269fs	NM_004733.3	NP_004724.1	O00400	ACATN_HUMAN	solute carrier family 33 (acetyl-CoA transporter), member 1	269					cell death|transmembrane transport	endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane|membrane fraction	acetyl-CoA transporter activity			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	22			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TGTTGTTATTAAAAATACAGT	0.259													9	55	---	---	---	---					
TRIO	7204	broad.mit.edu	37	5	14487781	14487781	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr5:14487781delC	ENST00000344204.4	+	48	7068	c.7044delC	c.(7042-7044)cafs	p.H2348fs	TRIO_ENST00000537187.1_Frame_Shift_Del_p.H2348fs	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2348					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					TCCGACACCACCCCCCCGTGC	0.751													2	4	---	---	---	---					
ADAM32	203102	broad.mit.edu	37	8	39027453	39027453	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr8:39027453delT	ENST00000379907.4	+	10	979	c.852delT	c.(850-852)cgfs	p.R284fs	ADAM32_ENST00000437682.2_Frame_Shift_Del_p.R291fs|ADAM32_ENST00000519315.1_Frame_Shift_Del_p.R284fs	NM_145004.5	NP_659441.3	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	284	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			ATTATCCTCGTTATTTGGGAG	0.269													30	60	---	---	---	---					
KLF6	1316	broad.mit.edu	37	10	3824190	3824191	+	Frame_Shift_Ins	INS	-	-	TG			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr10:3824190_3824191insTG	ENST00000497571.1	-	2	578_579	c.318_319insCA	c.(316-321)tcatgtfs	p.C107fs	KLF6_ENST00000173785.4_5'UTR|KLF6_ENST00000542957.1_Frame_Shift_Ins_p.C107fs|KLF6_ENST00000469435.1_Frame_Shift_Ins_p.C107fs	NM_001160124.1|NM_001300.5	NP_001153596.1|NP_001291.3	Q99612	KLF6_HUMAN	Kruppel-like factor 6	107					B cell differentiation	nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				Colorectal(1;0.238)		CTGCTGACATCTGAGTTCAGGC	0.500											OREG0019980	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	80	141	---	---	---	---					
AXIN1	8312	broad.mit.edu	37	16	348025	348025	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr16:348025delG	ENST00000262320.3	-	6	1852	c.1481delC	c.(1480-1482)cgfs	p.P494fs	AXIN1_ENST00000354866.3_Frame_Shift_Del_p.P494fs|AXIN1_ENST00000481769.1_5'UTR	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	494	Interaction with CTNNB1 (By similarity).				activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				CCCACTGTCCGGGGAGCGATG	0.687													2	4	---	---	---	---					
RP11-1166P10.6	0	broad.mit.edu	37	16	32077916	32077917	+	RNA	INS	-	-	TTT	rs139112308	by1000genomes	TCGA-EE-A20F-06A-21D-A196-08	TCGA-EE-A20F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9ccb1402-36fc-468f-9618-dba964339b41	aeb53048-61de-4e72-89a9-70abf7819e91	g.chr16:32077916_32077917insTTT	ENST00000566806.1	-	0	499																											ATGGAAAACGGTTATTTTTTTG	0.421													4	9	---	---	---	---					
