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
KEL	3792	broad.mit.edu	37	7	142651377	142651377	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:142651377G>A	ENST00000355265.2	-	8	1292	c.818C>T	c.(817-819)tCc>tTc	p.S273F	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	273					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GATTGACAAGGAAGAGTGTTC	0.542000													7	44					0	0	0.00198382	0	0
FOXS1	2307	broad.mit.edu	37	20	30433048	30433048	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:30433048C>T	ENST00000375978.3	-	1	372	c.298G>A	c.(298-300)Gac>Aac	p.D100N		NM_004118.3	NP_004109.1	O43638	FOXS1_HUMAN	forkhead box S1	100					anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						TCAAACATGTCGTGGCAGTCA	0.677000													6	27					0	0	0.00307968	0	0
ZNF684	127396	broad.mit.edu	37	1	41012346	41012346	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:41012346C>T	ENST00000372699.3	+	5	602	c.351C>T	c.(349-351)caC>caT	p.H117H	ZNF684_ENST00000493756.1_3'UTR	NM_152373.3	NP_689586.3	Q5T5D7	ZN684_HUMAN	zinc finger protein 684	117					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(2)|lung(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13	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;5.42e-18)			AGAGAATCCACCATTATAATA	0.323000													24	36					0	0	0.00332997	0	0
DGCR8	54487	broad.mit.edu	37	22	20073940	20073940	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr22:20073940C>T	ENST00000351989.3	+	2	883	c.454C>T	c.(454-456)Ctt>Ttt	p.L152F	DGCR8_ENST00000383024.2_Missense_Mutation_p.L152F|DGCR8_ENST00000407755.1_Missense_Mutation_p.L152F	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	152	Necessary for interaction with NCL.|Necessary for nuclear localization and retention.				primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					CGGTCTGCTCCTTAGCCCTGT	0.582000													15	63					0	0	0.00316338	0	0
GMEB1	10691	broad.mit.edu	37	1	29029081	29029081	+	Splice_Site	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:29029081G>A	ENST00000373816.1	+	7	868	c.730_splice	c.e7+1	p.E244_splice	GMEB1_ENST00000294409.2_Splice_Site_p.E254_splice|GMEB1_ENST00000480454.1_3'UTR|GMEB1_ENST00000361872.4_Splice_Site_p.E244_splice	NM_024482.2	NP_077808.1	Q9Y692	GMEB1_HUMAN	glucocorticoid modulatory element binding protein 1	254					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|metal ion binding|transcription coactivator activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)	11		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		GGAAATTTCAGGTATTCTTCT	0.483000													11	40					0	0	0.00185496	0	0
TBC1D9	23158	broad.mit.edu	37	4	141592033	141592033	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:141592033G>A	ENST00000442267.2	-	7	1181	c.1107C>T	c.(1105-1107)ccC>ccT	p.P369P		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	369						intracellular	calcium ion binding|Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				TGATGGATAAGGGACTGGGGA	0.443000													52	48					0	0	0.00361006	0	0
PHKA1	5255	broad.mit.edu	37	X	71840645	71840645	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:71840645G>A	ENST00000339490.3	-	19	2367	c.2067C>T	c.(2065-2067)ttC>ttT	p.F689F	PHKA1_ENST00000541944.1_Intron|PHKA1_ENST00000373539.3_Silent_p.F689F|PHKA1_ENST00000373542.4_Silent_p.F689F|PHKA1_ENST00000373545.3_Intron	NM_001122670.1	NP_001116142.1	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	689					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					CAGCAGCTTGGAACCGATCTA	0.512000													11	11					0	0	0.00136819	0	0
LRP1B	53353	broad.mit.edu	37	2	141242937	141242937	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:141242937C>T	ENST00000389484.3	-	59	10371	c.9400G>A	c.(9400-9402)Gac>Aac	p.D3134N		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3134					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)		AAAGACAAGTCTCTGGGAAAC	0.348000										TSP Lung(27;0.18)			18	37					0	0	0.00121646	0	0
PPAPDC1A	196051	broad.mit.edu	37	10	122263349	122263349	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:122263349C>T	ENST00000398250.1	+	2	428	c.76C>T	c.(76-78)Ccg>Tcg	p.P26S	PPAPDC1A_ENST00000369073.3_Missense_Mutation_p.P16S|PPAPDC1A_ENST00000541332.1_Missense_Mutation_p.P26S|PPAPDC1A_ENST00000439221.1_Missense_Mutation_p.P26S|PPAPDC1A_ENST00000398248.1_Missense_Mutation_p.P26S	NM_001030059.1	NP_001025230.1	Q5VZY2	PPC1A_HUMAN	phosphatidic acid phosphatase type 2 domain containing 1A	26					phospholipid dephosphorylation	integral to membrane	phosphatidate phosphatase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	20		Lung NSC(174;0.1)|all_lung(145;0.132)		all cancers(201;0.0117)		GTTTTTGGATCCGTTCCAGAG	0.438000													7	39					0	0	0.00307968	0	0
FCN1	2219	broad.mit.edu	37	9	137806235	137806235	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:137806235C>T	ENST00000371806.3	-	4	394	c.303G>A	c.(301-303)gaG>gaA	p.E101E		NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN	ficolin (collagen/fibrinogen domain containing) 1	101					opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding			endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		GCTCACCTTTCTCTCCACGCA	0.632000													9	18					0	0	0.000673444	0	0
TCOF1	6949	broad.mit.edu	37	5	149755694	149755694	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:149755694C>T	ENST00000451292.1	+	13	2051	c.1943C>T	c.(1942-1944)aCc>aTc	p.T648I	TCOF1_ENST00000513346.1_Missense_Mutation_p.T648I|TCOF1_ENST00000445265.2_Missense_Mutation_p.T571I|TCOF1_ENST00000439160.2_Missense_Mutation_p.T648I|TCOF1_ENST00000504761.2_Missense_Mutation_p.T648I|TCOF1_ENST00000394269.3_Missense_Mutation_p.T648I|TCOF1_ENST00000377797.3_Missense_Mutation_p.T648I|TCOF1_ENST00000323668.7_Missense_Mutation_p.T571I			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	648					skeletal system development	nucleolus	protein binding|transporter activity			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCAAAGAAAACCAATACCACT	0.572000													25	77					0	0	0.00106085	0	0
ITGBL1	9358	broad.mit.edu	37	13	102105194	102105194	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr13:102105194C>T	ENST00000376180.3	+	1	229	c.10C>T	c.(10-12)Cca>Tca	p.P4S	ITGBL1_ENST00000545560.2_5'UTR	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat domains)	4					cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity			breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CATGCGTCCCCCAGGCTTCAG	0.607000													14	21					0	0	0.000566183	0	0
SH3TC2	79628	broad.mit.edu	37	5	148406852	148406852	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:148406852C>T	ENST00000538184.1	-	7	1972	c.1084G>A	c.(1084-1086)Gct>Act	p.A362T	SH3TC2_ENST00000512049.1_Missense_Mutation_p.A808T|SH3TC2_ENST00000515425.1_Missense_Mutation_p.A815T|SH3TC2_ENST00000394358.2_Missense_Mutation_p.A700T			Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	815							binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACATCCAAAGCCTTCTTGGCC	0.557000													12	48					0	0	0.00136819	0	0
KLHL31	401265	broad.mit.edu	37	6	53517009	53517009	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:53517009C>T	ENST00000370905.3	-	3	1432	c.1292G>A	c.(1291-1293)gGa>gAa	p.G431E	KLHL31_ENST00000407079.1_Missense_Mutation_p.G431E	NM_001003760.4	NP_001003760.2	Q9H511	KLH31_HUMAN	kelch-like family member 31	431					regulation of transcription, DNA-dependent|transcription, DNA-dependent					autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20	Lung NSC(77;0.0158)					GGCCAGGCTTCCTTCTGCGTT	0.672000													7	38					0	0	0.00307968	0	0
PLEKHM1	9842	broad.mit.edu	37	17	43555385	43555385	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:43555385G>A	ENST00000430334.3	-	3	310	c.177C>T	c.(175-177)atC>atT	p.I59I	PLEKHM1_ENST00000421073.2_Intron	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	59	RUN.				intracellular signal transduction	cytoplasm	metal ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					GCAGGCCATGGATAAATACGG	0.592000													5	19					0	0	0.00198382	0	0
IGF2BP1	10642	broad.mit.edu	37	17	47118803	47118803	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:47118803G>A	ENST00000290341.3	+	8	1216	c.882G>A	c.(880-882)aaG>aaA	p.K294K	IGF2BP1_ENST00000431824.2_Silent_p.K155K	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	294	KH 2.|Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity).				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TCATTGGCAAGGAAGGACGGA	0.483000													6	50					0	0	0.00116845	0	0
FAAH	2166	broad.mit.edu	37	1	46878863	46878863	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:46878863G>A	ENST00000243167.8	+	14	1666	c.1582G>A	c.(1582-1584)Ggg>Agg	p.G528R		NM_001441.2	NP_001432.2	O00519	FAAH1_HUMAN	fatty acid amide hydrolase	528					fatty acid catabolic process	cytoplasm|cytoskeleton|endomembrane system|integral to membrane|organelle membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|fatty acid amide hydrolase activity			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	22	Acute lymphoblastic leukemia(166;0.155)				Propofol(DB00818)|Thiopental(DB00599)	GGGCTACTTTGGGGATATCTG	0.577000													4	19					0	0	0.00116845	0	0
GFRAL	389400	broad.mit.edu	37	6	55196626	55196626	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:55196626G>A	ENST00000340465.2	+	2	222	c.136G>A	c.(136-138)Gaa>Aaa	p.E46K		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	46						integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			GAGAGTAATGGAAGATGCCTG	0.318000													7	39					0	0	0.000442599	0	0
HRNR	388697	broad.mit.edu	37	1	152193546	152193546	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:152193546G>A	ENST00000368801.2	-	3	634	c.559C>T	c.(559-561)Cat>Tat	p.H187Y	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	187					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAAGACTGATGGGAGTCGGAG	0.527000													7	43					0	0	0.00198382	0	0
C6orf118	168090	broad.mit.edu	37	6	165712932	165712932	+	Splice_Site	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:165712932C>T	ENST00000543069.1	-	4	1205	c.624_splice	c.e4+1	p.E208_splice	C6orf118_ENST00000230301.8_Splice_Site_p.E312_splice			Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	312										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		CGATCGTCACCTCGTACTGTG	0.473000													11	22					0	0	0.00136819	0	0
KIAA1549	57670	broad.mit.edu	37	7	138603927	138603927	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:138603927C>T	ENST00000440172.1	-	2	493	c.445G>A	c.(445-447)Gag>Aag	p.E149K	KIAA1549_ENST00000422774.1_Missense_Mutation_p.E149K|KIAA1549_ENST00000242365.4_Missense_Mutation_p.E99K	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	149						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						ACGGCCACCTCTTTACTCGTC	0.453000			O	BRAF	pilocytic astrocytoma								29	242					0	0	0.00327116	0	0
DNASE2B	58511	broad.mit.edu	37	1	84880305	84880305	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:84880305C>T	ENST00000370665.3	+	6	873	c.840C>T	c.(838-840)tcC>tcT	p.S280S	DNASE2B_ENST00000370662.3_Silent_p.S72S	NM_021233.2	NP_067056.2	Q8WZ79	DNS2B_HUMAN	deoxyribonuclease II beta	280					DNA metabolic process	lysosome	deoxyribonuclease II activity	p.S280S(1)|p.S72S(1)		endometrium(1)|lung(4)|skin(1)	6				all cancers(265;0.00303)|Epithelial(280;0.0112)|OV - Ovarian serous cystadenocarcinoma(397;0.0808)		CAAACTGCTCCCTTCCTTACC	0.418000													15	30					0	0	0.000958276	0	0
OBP2B	29989	broad.mit.edu	37	9	136081313	136081313	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:136081313C>T	ENST00000372034.3	-	6	546	c.505G>A	c.(505-507)Gaa>Aaa	p.E169K	OBP2B_ENST00000461961.1_5'UTR|OBP2B_ENST00000372032.2_3'UTR	NM_014581.2	NP_055396.1	Q9NPH6	OBP2B_HUMAN	odorant binding protein 2B	169					chemosensory behavior|sensory perception of smell	extracellular region	odorant binding|transporter activity			central_nervous_system(2)|large_intestine(1)|lung(3)|skin(1)	7				OV - Ovarian serous cystadenocarcinoma(145;3.41e-06)|Epithelial(140;1.88e-05)		CCCTAGTGTTCGGGAACGCAG	0.617000													6	37					0	0	0.000274275	0	0
BUB1B	701	broad.mit.edu	37	15	40468867	40468867	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:40468867C>T	ENST00000287598.6	+	5	769	c.574C>T	c.(574-576)Cag>Tag	p.Q192*	BUB1B_ENST00000412359.3_Nonsense_Mutation_p.Q206*	NM_001211.5	NP_001202.4	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	192	BUB1 N-terminal.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		ACTACAGTCCCAGCACCGGTA	0.373000			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome				10	29					0	0	0.000442599	0	0
MED12	9968	broad.mit.edu	37	X	70339657	70339657	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:70339657C>T	ENST00000333646.6	+	3	525	c.326C>T	c.(325-327)tCc>tTc	p.S109F	MED12_ENST00000374080.3_Missense_Mutation_p.S109F|MED12_ENST00000374102.1_Missense_Mutation_p.S109F	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	109					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					ACTGCACGATCCCAGAGTGCC	0.493000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						8	10					0	0	0.000442599	0	0
C6orf62	81688	broad.mit.edu	37	6	24716492	24716492	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:24716492C>T	ENST00000378119.4	-	2	2357	c.190G>A	c.(190-192)Gaa>Aaa	p.E64K	C6orf62_ENST00000378102.3_Missense_Mutation_p.E35K|C6orf62_ENST00000540769.1_Missense_Mutation_p.E6K	NM_030939.4	NP_112201.1	Q9GZU0	CF062_HUMAN	chromosome 6 open reading frame 62	64						intracellular				endometrium(2)|kidney(3)|large_intestine(2)|lung(3)	10						ATATTTTCTTCATAATTATTT	0.398000													8	89					0	0	0.000442599	0	0
TCF19	6941	broad.mit.edu	37	6	31130295	31130295	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:31130295C>T	ENST00000376257.3	+	4	1593	c.839C>T	c.(838-840)cCc>cTc	p.P280L	TCF19_ENST00000376255.4_Missense_Mutation_p.P280L|TCF19_ENST00000496421.1_3'UTR	NM_007109.2	NP_009040.2	Q9Y242	TCF19_HUMAN	transcription factor 19	280	Pro-rich.				cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						GTGAGCGCTCCCATGGCTCCC	0.612000													5	49					0	0	0.00307968	0	0
LRP2	4036	broad.mit.edu	37	2	170022486	170022486	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:170022486C>T	ENST00000263816.3	-	62	11999	c.11714G>A	c.(11713-11715)gGt>gAt	p.G3905D		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3905	LDL-receptor class A 35.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GTCATCCACACCATTGCACAC	0.448000													13	87					0	0	0.00074312	0	0
YTHDF1	54915	broad.mit.edu	37	20	61833700	61833700	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:61833700G>A	ENST00000370339.3	-	4	1933	c.1592C>T	c.(1591-1593)tCc>tTc	p.S531F	YTHDF1_ENST00000370333.4_Missense_Mutation_p.S481F|YTHDF1_ENST00000370334.4_Intron	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	531										NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						GTCGAAGATGGAGGTTGTGTG	0.542000													8	52					0	0	0.000274275	0	0
CMPK2	129607	broad.mit.edu	37	2	7001333	7001333	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:7001333G>A	ENST00000256722.5	-	3	973	c.974C>T	c.(973-975)tCt>tTt	p.S325F	CMPK2_ENST00000404168.1_Missense_Mutation_p.S325F|CMPK2_ENST00000458098.1_Missense_Mutation_p.S325F|CMPK2_ENST00000478738.1_5'UTR	NM_207315.3	NP_997198.2	Q5EBM0	CMPK2_HUMAN	cytidine monophosphate (UMP-CMP) kinase 2, mitochondrial	325					dTDP biosynthetic process	mitochondrion	ATP binding|cytidylate kinase activity|thymidylate kinase activity|UMP kinase activity			large_intestine(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					AATCACAGGAGATTTGGCAGA	0.393000													18	50					0	0	0.00188189	0	0
CORIN	10699	broad.mit.edu	37	4	47695045	47695045	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:47695045C>T	ENST00000273857.4	-	6	854	c.855G>A	c.(853-855)ggG>ggA	p.G285G	CORIN_ENST00000508498.1_Silent_p.G146G|CORIN_ENST00000502252.1_Silent_p.G218G|CORIN_ENST00000504584.1_Silent_p.G285G|CORIN_ENST00000505909.1_Silent_p.G285G	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	285	LDL-receptor class A 1.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						ATTGCAGTTTCCCGGGGATGC	0.468000													14	23					0	0	0.00074312	0	0
PAX7	5081	broad.mit.edu	37	1	19027170	19027170	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:19027170C>T	ENST00000420770.2	+	6	893	c.810C>T	c.(808-810)gcC>gcT	p.A270A	PAX7_ENST00000375375.3_Silent_p.A270A|PAX7_ENST00000400661.3_Silent_p.A268A	NM_001135254.1	NP_001128726.1	P23759	PAX7_HUMAN	paired box 7	270					anti-apoptosis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX7/FOXO1(197)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)	31		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)		ACCGCCGCGCCCGTTGGCGTA	0.647000			T	FOXO1A	alveolar rhabdomyosarcoma								4	31					0	0	0.00198382	0	0
HMCN1	83872	broad.mit.edu	37	1	186106980	186106980	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:186106980G>A	ENST00000271588.4	+	89	14029	c.13800G>A	c.(13798-13800)agG>agA	p.R4600R	HMCN1_ENST00000367492.2_Silent_p.R4600R	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4600	TSP type-1 2.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AATGCACAAGGAGCTGTGGAC	0.463000													5	59					0	0	0.00198382	0	0
FLT1	2321	broad.mit.edu	37	13	28963985	28963985	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr13:28963985C>T	ENST00000282397.4	-	13	2168	c.1917G>A	c.(1915-1917)agG>agA	p.R639R	FLT1_ENST00000541932.1_Silent_p.R639R	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	639	Ig-like C2-type 6.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	TGTATACATTCCTGGCTCTGC	0.428000													29	79					0	0	0.00178596	0	0
ST3GAL1	6482	broad.mit.edu	37	8	134477116	134477116	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:134477116C>T	ENST00000319914.5	-	6	1615	c.588G>A	c.(586-588)cgG>cgA	p.R196R	ST3GAL1_ENST00000522652.1_Silent_p.R196R|ST3GAL1_ENST00000521180.1_Silent_p.R196R|ST3GAL1_ENST00000399640.2_Silent_p.R196R			Q11201	SIA4A_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 1	196					protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity			endometrium(3)|large_intestine(2)|lung(11)|prostate(1)	17	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.00721)			CTCCCAGCTCCCGGAAGCTCT	0.582000													16	94					0	0	0.00121646	0	0
ANKH	56172	broad.mit.edu	37	5	14758589	14758589	+	Splice_Site	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:14758589C>T	ENST00000284268.6	-	3	762	c.432_splice	c.e3+1	p.M144_splice		NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN	ANKH inorganic pyrophosphate transport regulator	144					locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						CTCTACTCACCATTGCGTCCA	0.413000													5	37					0	0	0.00116845	0	0
SEC23B	10483	broad.mit.edu	37	20	18511414	18511414	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:18511414C>T	ENST00000336714.3	+	10	1632	c.1200C>T	c.(1198-1200)ttC>ttT	p.F400F	SEC23B_ENST00000377465.1_Silent_p.F400F|SEC23B_ENST00000377475.3_Silent_p.F400F|SEC23B_ENST00000262544.2_Silent_p.F400F	NM_006363.4|NM_032985.4|NM_032986.3	NP_006354.2|NP_116780.1|NP_116781.1	Q15437	SC23B_HUMAN	Sec23 homolog B (S. cerevisiae)	400					ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						ATGGAGATTTCCGAATGGCAT	0.393000													15	93					0	0	0.000566183	0	0
SCN2B	6327	broad.mit.edu	37	11	118037620	118037620	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:118037620C>T	ENST00000278947.5	-	4	871	c.630G>A	c.(628-630)ccG>ccA	p.P210P		NM_004588.4	NP_004579.1	O60939	SCN2B_HUMAN	sodium channel, voltage-gated, type II, beta subunit	210					synaptic transmission	voltage-gated sodium channel complex	voltage-gated sodium channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	7	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.19e-05)|Epithelial(105;0.00117)		CGCCATCATCCGGGTTGCCTT	0.612000													6	42					0	0	0.00307968	0	0
BAZ1A	11177	broad.mit.edu	37	14	35253102	35253102	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:35253102A>C	ENST00000360310.1	-	15	2430	c.1863T>G	c.(1861-1863)tgT>tgG	p.C621W	BAZ1A_ENST00000382422.2_Missense_Mutation_p.C621W|BAZ1A_ENST00000358716.4_Missense_Mutation_p.C589W	NM_013448.2	NP_038476.2	Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	621					chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		GTAGCTTTCCACAGAGAGCAT	0.348000													10	30					0	0	0.000442599	0	0
OR2G2	81470	broad.mit.edu	37	1	247752107	247752107	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:247752107C>T	ENST00000320065.1	+	1	446	c.446C>T	c.(445-447)tCt>tTt	p.S149F	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	149					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	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)			GCCTTGGCATCTATGGCATGG	0.557000													14	49					0	0	0.00400662	0	0
FRYL	285527	broad.mit.edu	37	4	48597968	48597968	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:48597968A>G	ENST00000537810.1	-	14	1689	c.1085T>C	c.(1084-1086)tTa>tCa	p.L362S	FRYL_ENST00000507711.1_Missense_Mutation_p.L362S|FRYL_ENST00000503238.1_Missense_Mutation_p.L362S|FRYL_ENST00000506685.1_Missense_Mutation_p.L68S|FRYL_ENST00000358350.4_Missense_Mutation_p.L362S|FRYL_ENST00000264319.7_5'UTR			O94915	FRYL_HUMAN	FRY-like	362					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						AACCCACAATAATCTATACAA	0.274000													11	54					0	0	0.00316338	0	0
FAM83B	222584	broad.mit.edu	37	6	54791295	54791295	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:54791295A>G	ENST00000306858.7	+	3	687	c.571A>G	c.(571-573)Atg>Gtg	p.M191V		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	191										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)					TTTTCTAAATATGACTGAGAA	0.343000													33	66					0	0	0.0024448	0	0
OR2AG1	144125	broad.mit.edu	37	11	6806802	6806802	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:6806802C>T	ENST00000307401.4	+	1	555	c.534C>T	c.(532-534)ctC>ctT	p.L178L		NM_001004489.2	NP_001004489.1	Q9H205	O2AG1_HUMAN	olfactory receptor, family 2, subfamily AG, member 1	178					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GGCATCTTCTCTGTGAGATCC	0.517000													10	21					0	0	0.000978159	0	0
CKLF	51192	broad.mit.edu	37	16	66592128	66592128	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:66592128C>T	ENST00000264001.4	+	2	263	c.114C>T	c.(112-114)atC>atT	p.I38I	CKLF_ENST00000417030.2_Silent_p.I38I|CKLF-CMTM1_ENST00000527729.1_Intron|CKLF_ENST00000362093.4_Intron|CKLF_ENST00000563092.1_Intron|CKLF_ENST00000345436.4_Silent_p.I38I|CKLF_ENST00000351137.4_Intron|CKLF_ENST00000532838.1_Intron	NM_016951.3	NP_058647.1			chemokine-like factor											endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|upper_aerodigestive_tract(1)	5		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0689)|Epithelial(162;0.217)		TTTTTATCATCGCACAAGCCC	0.323000													53	146					0	0	0.00361006	0	0
ZNF350	59348	broad.mit.edu	37	19	52469189	52469189	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:52469189G>A	ENST00000243644.4	-	5	744	c.517C>T	c.(517-519)Cat>Tat	p.H173Y	HCCAT3_ENST00000595010.1_RNA|HCCAT3_ENST00000600253.1_RNA	NM_021632.3	NP_067645.3	Q9GZX5	ZN350_HUMAN	zinc finger protein 350	173					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)		ATTGCAGTATGAAGTCGTTCA	0.378000													32	92					0	0	0.00111076	0	0
ENPP1	5167	broad.mit.edu	37	6	132181527	132181527	+	Splice_Site	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:132181527G>A	ENST00000360971.2	+	8	816	c.795_splice	c.e8-1	p.G266_splice		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	266	Phosphodiesterase.		G -> V (in ARHR2; rs121908248).		3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	TCTTTTTTAGGGATTGTATCC	0.289000													10	20					0	0	0.000673444	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995398	140995398	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:140995398C>T	ENST00000285879.4	+	4	2494	c.2208C>T	c.(2206-2208)ttC>ttT	p.F736F	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	736							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GGGAGGACTTCCAGTCTTCTC	0.552000										HNSCC(15;0.026)			18	60					0	0	0.00074312	0	0
GCNT1	2650	broad.mit.edu	37	9	79118029	79118029	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:79118029G>A	ENST00000442371.1	+	3	1671	c.732G>A	c.(730-732)acG>acA	p.T244T	GCNT1_ENST00000444201.2_Silent_p.T244T|GCNT1_ENST00000536223.1_Silent_p.T244T|GCNT1_ENST00000376730.4_Silent_p.T244T	NM_001097634.1	NP_001091103.1	Q02742	GCNT1_HUMAN	glucosaminyl (N-acetyl) transferase 1, core 2	244	Catalytic (By similarity).				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity	p.T244T(2)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1)	30						ACCTGGAAACGGAGAGGATGC	0.418000													10	31					0	0	0.000978159	0	0
COL6A6	131873	broad.mit.edu	37	3	130293223	130293223	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:130293223C>T	ENST00000358511.6	+	7	3432	c.3401C>T	c.(3400-3402)tCc>tTc	p.S1134F	COL6A6_ENST00000453409.2_Missense_Mutation_p.S1134F	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1134	Nonhelical region.|VWFA 6.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GACATCTACTCCGTGGGCATT	0.562000													4	26					0	0	0.00024832	0	0
TMEM202	338949	broad.mit.edu	37	15	72699517	72699517	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:72699517A>G	ENST00000341689.3	+	4	632	c.578A>G	c.(577-579)tAt>tGt	p.Y193C	TMEM202_ENST00000567679.1_Intron	NM_001080462.1	NP_001073931.1	A6NGA9	TM202_HUMAN	transmembrane protein 202	193						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	18						CTATGGACCTATTATCTTAAC	0.488000													16	75					0	0	0.00400662	0	0
RASAL1	8437	broad.mit.edu	37	12	113565983	113565983	+	Splice_Site	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:113565983C>T	ENST00000546530.1	-	4	408	c.122_splice	c.e4-1	p.R41_splice	RASAL1_ENST00000261729.5_Splice_Site_p.R41_splice|RASAL1_ENST00000446861.3_Splice_Site_p.R41_splice|RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000548055.1_Splice_Site_p.R41_splice	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	41	C2 1.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						CAGTAGCTGTCCTGCAAAAGG	0.617000													12	40					0	0	0.000978159	0	0
DGCR8	54487	broad.mit.edu	37	22	20073939	20073939	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr22:20073939C>T	ENST00000351989.3	+	2	882	c.453C>T	c.(451-453)ctC>ctT	p.L151L	DGCR8_ENST00000383024.2_Silent_p.L151L|DGCR8_ENST00000407755.1_Silent_p.L151L	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	151	Necessary for interaction with NCL.|Necessary for nuclear localization and retention.				primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					GCGGTCTGCTCCTTAGCCCTG	0.582000													15	62					0	0	0.00316338	0	0
SCARA3	51435	broad.mit.edu	37	8	27516854	27516854	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:27516854C>T	ENST00000301904.3	+	5	1187	c.1167C>T	c.(1165-1167)ttC>ttT	p.F389F	SCARA3_ENST00000337221.4_Silent_p.F389F	NM_016240.2	NP_057324.2	Q6AZY7	SCAR3_HUMAN	scavenger receptor class A, member 3	389					response to oxidative stress|UV protection	collagen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	scavenger receptor activity			breast(1)|large_intestine(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	9		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148)		CGCTGGGCTTCCACACCCATG	0.582000													6	14					0	0	0.00116845	0	0
TTPA	7274	broad.mit.edu	37	8	63976871	63976871	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:63976871G>A	ENST00000260116.4	-	4	588	c.557C>T	c.(556-558)tCa>tTa	p.S186L	TTPA_ENST00000521138.1_Intron	NM_000370.3	NP_000361.1	P49638	TTPA_HUMAN	tocopherol (alpha) transfer protein	186	CRAL-TRIO.				lipid metabolic process		transporter activity|vitamin E binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)	15	Breast(64;0.0716)	all_cancers(86;0.145)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.123)			Vitamin E(DB00163)	CAATGGAAATGAATCCTTTTG	0.299000													7	72					0	0	0.00198382	0	0
DDR1	780	broad.mit.edu	37	6	30857032	30857032	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:30857032C>T	ENST00000324771.8	+	6	790	c.242C>T	c.(241-243)cCc>cTc	p.P81L	DDR1_ENST00000508312.1_Missense_Mutation_p.P99L|DDR1_ENST00000376570.4_Missense_Mutation_p.P81L|DDR1_ENST00000452441.1_Missense_Mutation_p.P81L|DDR1_ENST00000446312.1_Missense_Mutation_p.P81L|DDR1_ENST00000376568.3_Missense_Mutation_p.P81L|DDR1_ENST00000418800.2_Missense_Mutation_p.P81L|DDR1_ENST00000376575.3_Missense_Mutation_p.P81L|DDR1_ENST00000454612.2_Missense_Mutation_p.P81L|DDR1_ENST00000513240.1_Missense_Mutation_p.P81L|DDR1_ENST00000376567.2_Missense_Mutation_p.P81L|DDR1_ENST00000376569.3_Missense_Mutation_p.P81L			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	81	F5/8 type C.				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	TCGGTGTTTCCCAAGGAGGAG	0.647000													22	109					0	0	0.00278032	0	0
ANPEP	290	broad.mit.edu	37	15	90335554	90335554	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:90335554G>A	ENST00000300060.6	-	18	2678	c.2365C>T	c.(2365-2367)Cac>Tac	p.H789Y		NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	789	Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	AGGTTGGGGTGGATCCTGGTG	0.642000													15	35					0	0	0.00316338	0	0
PRPF8	10594	broad.mit.edu	37	17	1584244	1584244	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:1584244G>A	ENST00000572621.1	-	6	1236	c.971C>T	c.(970-972)cCa>cTa	p.P324L	PRPF8_ENST00000304992.6_Missense_Mutation_p.P324L			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	324						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		GACATGGTGTGGAAGATTGTT	0.453000													43	159					0	0	0.00361006	0	0
BIVM-ERCC5	100533467	broad.mit.edu	37	13	103510651	103510651	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr13:103510651G>A	ENST00000602836.1	+	14	1831	c.1831G>A	c.(1831-1833)Gat>Aat	p.D611N	ERCC5_ENST00000535557.1_Silent_p.A185A|ERCC5_ENST00000355739.4_Silent_p.A185A	NM_001204425.1	NP_001191354.1	Q59FZ7	Q59FZ7_HUMAN		0					nucleotide-excision repair	nucleus	endonuclease activity|single-stranded DNA binding										ATCCTCAAGCGATAGATATTG	0.368000													13	44					0	0	0.00316338	0	0
CAB39	51719	broad.mit.edu	37	2	231683275	231683275	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:231683275C>T	ENST00000258418.5	+	9	1311	c.882C>T	c.(880-882)atC>atT	p.I294I	CAB39_ENST00000409788.3_Silent_p.I294I|CAB39_ENST00000410084.3_Silent_p.I294I	NM_016289.3	NP_057373.1	Q9Y376	CAB39_HUMAN	calcium binding protein 39	294					cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol	kinase binding			central_nervous_system(1)|large_intestine(1)|skin(1)	3		all_lung(227;4.63e-07)|all_hematologic(139;1.83e-06)|Lung NSC(271;2.11e-05)|Acute lymphoblastic leukemia(138;5.51e-05)|Hepatocellular(293;0.0207)|Lung SC(224;0.187)		all cancers(144;1.64e-12)|Epithelial(121;5.29e-11)|LUSC - Lung squamous cell carcinoma(224;0.0154)|Lung(119;0.0177)|COAD - Colon adenocarcinoma(134;0.226)		TCCTAGACATCCTCCTCAAGA	0.493000													6	40					0	0	0.000274275	0	0
ENAM	10117	broad.mit.edu	37	4	71508434	71508434	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:71508434G>A	ENST00000396073.3	+	9	1572	c.1291G>A	c.(1291-1293)Gaa>Aaa	p.E431K	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	431					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			TGTTCGCAATGAAAAAATCCA	0.468000													11	32					0	0	0.000673444	0	0
ENPP1	5167	broad.mit.edu	37	6	132196982	132196982	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:132196982G>A	ENST00000360971.2	+	17	1722	c.1702G>A	c.(1702-1704)Gaa>Aaa	p.E568K		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	568	Phosphodiesterase.				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	TGAAAACATTGAAGTCTATAA	0.413000													9	28					0	0	0.000673444	0	0
CCDC67	159989	broad.mit.edu	37	11	93148263	93148263	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:93148263G>A	ENST00000298050.3	+	13	1721	c.1621G>A	c.(1621-1623)Gat>Aat	p.D541N	CCDC67_ENST00000525646.1_Missense_Mutation_p.D283N	NM_181645.3	NP_857596.2	Q05D60	CCD67_HUMAN	coiled-coil domain containing 67	541										endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				GGTTAGTGATGATGATGTATT	0.403000													18	77					0	0	0.00121646	0	0
ZFHX4	79776	broad.mit.edu	37	8	77764369	77764369	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:77764369C>T	ENST00000521891.2	+	10	5660	c.5212C>T	c.(5212-5214)Ctc>Ttc	p.L1738F	ZFHX4_ENST00000518282.1_Missense_Mutation_p.L1712F|ZFHX4_ENST00000050961.6_Missense_Mutation_p.L1693F|ZFHX4_ENST00000455469.2_Missense_Mutation_p.L1693F	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1693	Gln-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GCCTCAGTTTCTCTTTCCATT	0.512000										HNSCC(33;0.089)			32	26					0	0	0.00428921	0	0
SH3GL3	6457	broad.mit.edu	37	15	84286846	84286846	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:84286846C>T	ENST00000324537.5	+	12	1367	c.875C>T	c.(874-876)cCc>cTc	p.P292L	SH3GL3_ENST00000564054.1_3'UTR|SH3GL3_ENST00000427482.2_Missense_Mutation_p.P284L|SH3GL3_ENST00000434347.1_Missense_Mutation_p.P292L|SH3GL3_ENST00000535412.1_3'UTR			Q99963	SH3G3_HUMAN	SH3-domain GRB2-like 3	284	SH3.				central nervous system development|endocytosis|signal transduction	early endosome membrane	identical protein binding|lipid binding			central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						TCTAACATTCCCATGGACCAG	0.413000													7	51					0	0	0.00307968	0	0
RPGR	6103	broad.mit.edu	37	X	38147243	38147243	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:38147243C>T	ENST00000378505.2	-	14	1800	c.1624G>A	c.(1624-1626)Gat>Aat	p.D542N	RPGR_ENST00000342811.3_Missense_Mutation_p.D542N|RPGR_ENST00000338898.3_3'UTR|RPGR_ENST00000339363.3_Missense_Mutation_p.D542N|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000309513.3_Missense_Mutation_p.D480N|RPGR_ENST00000318842.7_Missense_Mutation_p.D542N	NM_001034853.1	NP_001030025.1	Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator	542	Glu-rich.				intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						TCACTATCATCGTTTTCAGTA	0.358000													14	48					0	0	0.000566183	0	0
ASCC3	10973	broad.mit.edu	37	6	101086613	101086613	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:101086613G>A	ENST00000369162.2	-	25	4330	c.3986C>T	c.(3985-3987)cCt>cTt	p.P1329L		NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit 3	1329					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		TGTCTGTACAGGGTTAAAGTG	0.423000													23	50					0	0	0.00106085	0	0
NALCN	259232	broad.mit.edu	37	13	101890181	101890181	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr13:101890181G>A	ENST00000251127.6	-	12	1440	c.1359C>T	c.(1357-1359)ttC>ttT	p.F453F	NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376196.3_Silent_p.F453F	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	453						integral to membrane	sodium channel activity|voltage-gated ion channel activity	p.F453F(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GTAGTAGTTCGAATTTGTGGA	0.348000													38	94					0	0	0.000953801	0	0
TCL6	27004	broad.mit.edu	37	14	96136832	96136832	+	RNA	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:96136832C>T	ENST00000467865.1	+	0	1942				RP11-1070N10.6_ENST00000461160.1_RNA																large_intestine(1)|lung(7)	8		all_cancers(154;0.103)		Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207)		AGAGCAGCTGCCATTGCAGAT	0.468000			T	TRA@	T-ALL								6	15					0	0	0.00307968	0	0
CLCN3	1182	broad.mit.edu	37	4	170618774	170618774	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:170618774C>T	ENST00000513761.1	+	9	2011	c.1452C>T	c.(1450-1452)gtC>gtT	p.V484V	CLCN3_ENST00000504131.2_Silent_p.V467V|CLCN3_ENST00000347613.4_Silent_p.V484V|CLCN3_ENST00000360642.3_Silent_p.V457V	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN	chloride channel, voltage-sensitive 3	484					endosomal lumen acidification	cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane	antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity			breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		GTAAAATTGTCGATGACATTC	0.403000													17	59					0	0	0.000958276	0	0
C22orf23	84645	broad.mit.edu	37	22	38340449	38340449	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr22:38340449C>T	ENST00000249079.2	-	6	813	c.557G>A	c.(556-558)gGa>gAa	p.G186E	C22orf23_ENST00000403026.1_Missense_Mutation_p.G186E|C22orf23_ENST00000403305.1_Missense_Mutation_p.G186E			Q9BZE7	EVG1_HUMAN	chromosome 22 open reading frame 23	186										endometrium(3)|kidney(2)|large_intestine(7)	12	Melanoma(58;0.045)					AAGGATGATTCCTCGGTACTG	0.557000													13	26					0	0	0.000566183	0	0
ABCA8	10351	broad.mit.edu	37	17	66938079	66938079	+	Splice_Site	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:66938079C>T	ENST00000269080.2	-	2	234		c.e2+1		ABCA8_ENST00000430352.2_Splice_Site|ABCA8_ENST00000586539.1_Splice_Site	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8							integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					TTGAGTCATACCATTAAGGAC	0.383000													12	71					0	0	0.00185496	0	0
VDAC3	7419	broad.mit.edu	37	8	42260888	42260888	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:42260888C>G	ENST00000392935.3	+	8	757	c.614C>G	c.(613-615)aCa>aGa	p.T205R	VDAC3_ENST00000522572.1_Intron|VDAC3_ENST00000022615.4_Missense_Mutation_p.T204R|VDAC3_ENST00000521158.1_Missense_Mutation_p.T205R	NM_001135694.2|NM_005662.6	NP_001129166.1|NP_005653.3	Q9Y277	VDAC3_HUMAN	voltage-dependent anion channel 3	204					adenine transport	mitochondrial outer membrane|pore complex	nucleotide binding|porin activity|protein binding|voltage-gated anion channel activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	7	all_cancers(6;3.86e-23)|all_lung(13;6.47e-12)|Lung NSC(13;1.08e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00266)|Lung(22;0.00849)|LUSC - Lung squamous cell carcinoma(45;0.024)		Dihydroxyaluminium(DB01375)	AAGATTGAAACATCCATAAAC	0.398000													5	112					0	0	0.00116845	0	0
BUB1B	701	broad.mit.edu	37	15	40509708	40509708	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:40509708C>T	ENST00000287598.6	+	21	2885	c.2690C>T	c.(2689-2691)cCc>cTc	p.P897L	PAK6_ENST00000441369.1_5'UTR|PAK6_ENST00000453867.1_5'UTR|BUB1B_ENST00000412359.3_Missense_Mutation_p.P911L	NM_001211.5	NP_001202.4	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	897	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		ATCCACGATCCCTATGATTGT	0.408000			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome				53	64					0	0	0.00361006	0	0
CDKN1C	1028	broad.mit.edu	37	11	2906618	2906618	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:2906618G>A	ENST00000414822.3	-	1	493	c.102C>T	c.(100-102)ttC>ttT	p.F34F	CDKN1C_ENST00000380725.1_Silent_p.F23F|CDKN1C_ENST00000430149.2_Silent_p.F34F|CDKN1C_ENST00000313407.6_Silent_p.F23F|CDKN1C_ENST00000440480.2_Silent_p.F23F	NM_000076.2	NP_000067.1	P49918	CDN1C_HUMAN	cyclin-dependent kinase inhibitor 1C (p57, Kip2)	34					cell cycle arrest|G1 phase of mitotic cell cycle|negative regulation of epithelial cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of cyclin-dependent protein kinase activity	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding			central_nervous_system(1)|lung(1)	2		all_epithelial(84;0.000187)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|Breast(177;0.00328)|all_neural(188;0.00681)|all_lung(207;0.157)|Lung NSC(207;0.216)		BRCA - Breast invasive adenocarcinoma(625;0.0025)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCACCGGCCCGAAGAGGCTGC	0.682000													6	26					0	0	0.00116845	0	0
KNSTRN	90417	broad.mit.edu	37	15	40675107	40675107	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:40675107C>T	ENST00000416151.2	+	1	186	c.71C>T	c.(70-72)tCc>tTc	p.S24F	KNSTRN_ENST00000448395.2_Missense_Mutation_p.S24F|KNSTRN_ENST00000249776.8_Missense_Mutation_p.S24F	NM_001142761.1	NP_001136233.1			kinetochore-localized astrin/SPAG5 binding protein									p.S24F(1)									GAGTGCGATTCCCACCCACTT	0.567000													7	31					0	0	0.00198382	0	0
PRAMEF6	440561	broad.mit.edu	37	1	13001181	13001181	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:13001181G>A	ENST00000376189.1	-	3	601	c.502C>T	c.(502-504)Ctt>Ttt	p.L168F	PRAMEF6_ENST00000376192.5_Intron|PRAMEF6_ENST00000415464.2_Missense_Mutation_p.L168F	NM_001010889.2	NP_001010889.1	Q5VXH4	PRAM6_HUMAN	PRAME family member 6	168										NS(1)|kidney(1)|lung(5)|urinary_tract(2)	9	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ACCCATAGAAGGAGGCAGGTG	0.468000													9	118					0	0	0.000958276	0	0
SORCS3	22986	broad.mit.edu	37	10	106737116	106737116	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:106737116G>A	ENST00000369701.3	+	4	1046	c.819G>A	c.(817-819)gaG>gaA	p.E273E		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	273						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)		GTGATCCTGAGATGGAGAGCA	0.393000													10	44					0	0	0.000978159	0	0
ZNF208	7757	broad.mit.edu	37	19	22156927	22156927	+	Silent	SNP	A	A	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:22156927A>G	ENST00000397126.4	-	4	1057	c.909T>C	c.(907-909)caT>caC	p.H303H	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				GAATTGCCTTATGTGTAGTAA	0.393000													7	35					0	0	0.00198382	0	0
CACNA1G	8913	broad.mit.edu	37	17	48655906	48655906	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:48655906G>A	ENST00000352832.5	+	9	2654	c.2282G>A	c.(2281-2283)gGc>gAc	p.G761D	CACNA1G_ENST00000507336.1_Missense_Mutation_p.G761D|CACNA1G_ENST00000360761.4_Missense_Mutation_p.G761D|CACNA1G_ENST00000513689.2_Missense_Mutation_p.G761D|CACNA1G_ENST00000513964.1_Missense_Mutation_p.G761D|CACNA1G_ENST00000354983.4_Missense_Mutation_p.G761D|CACNA1G_ENST00000515765.1_Missense_Mutation_p.G761D|CACNA1G_ENST00000510366.1_Missense_Mutation_p.G761D|CACNA1G_ENST00000515411.1_Missense_Mutation_p.G761D|CACNA1G_ENST00000510115.1_Missense_Mutation_p.G761D|CACNA1G_ENST00000503485.1_Missense_Mutation_p.G761D|CACNA1G_ENST00000515165.1_Missense_Mutation_p.G761D|CACNA1G_ENST00000512389.1_Missense_Mutation_p.G761D|CACNA1G_ENST00000507896.1_Missense_Mutation_p.G761D|CACNA1G_ENST00000514181.1_Missense_Mutation_p.G761D|CACNA1G_ENST00000502264.1_Missense_Mutation_p.G761D|CACNA1G_ENST00000358244.5_Missense_Mutation_p.G761D|CACNA1G_ENST00000442258.2_Missense_Mutation_p.G761D|CACNA1G_ENST00000514717.1_Missense_Mutation_p.G761D|CACNA1G_ENST00000359106.5_Missense_Mutation_p.G761D|CACNA1G_ENST00000507510.2_Missense_Mutation_p.G761D|CACNA1G_ENST00000416767.4_Missense_Mutation_p.G761D|CACNA1G_ENST00000507609.1_Missense_Mutation_p.G761D|CACNA1G_ENST00000429973.2_Missense_Mutation_p.G761D|CACNA1G_ENST00000505165.1_Missense_Mutation_p.G761D|CACNA1G_ENST00000514079.1_Missense_Mutation_p.G761D	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	761					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			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)	CTCAGCATGGGCATCGAATAC	0.582000													9	35					0	0	0.00136819	0	0
SNRPC	6631	broad.mit.edu	37	6	34741339	34741339	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:34741339G>A	ENST00000374017.3	+	5	822	c.535G>A	c.(535-537)Gac>Aac	p.D179N	SNRPC_ENST00000374018.1_Missense_Mutation_p.D117N|SNRPC_ENST00000244520.5_Missense_Mutation_p.D158N			P09234	RU1C_HUMAN	small nuclear ribonucleoprotein polypeptide C	158					spliceosomal snRNP assembly	Cajal body|U1 snRNP	protein homodimerization activity|single-stranded RNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|pancreas(1)	6						GACTCGACCAGACAGATAAGG	0.522000													11	71					0	0	0.00136819	0	0
OR1J2	26740	broad.mit.edu	37	9	125273295	125273295	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:125273295C>T	ENST00000335302.5	+	1	215	c.215C>T	c.(214-216)tCc>tTc	p.S72F		NM_054107.1	NP_473448.1	Q8NGS2	OR1J2_HUMAN	olfactory receptor, family 1, subfamily J, member 2	72					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						ACTGACATCTCCTTTTCATCT	0.468000													11	49					0	0	0.000978159	0	0
SLC25A40	55972	broad.mit.edu	37	7	87476285	87476285	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:87476285G>A	ENST00000341119.5	-	8	956	c.610C>T	c.(610-612)Ctt>Ttt	p.L204F		NM_018843.3	NP_061331.2	Q8TBP6	S2540_HUMAN	solute carrier family 25, member 40	204					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	17	Esophageal squamous(14;0.00202)					ACATCTCTAAGAACAGTAGGA	0.378000													10	59					0	0	0.000673444	0	0
INHBA	3624	broad.mit.edu	37	7	41729597	41729597	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:41729597C>T	ENST00000242208.4	-	3	1178	c.932G>A	c.(931-933)gGc>gAc	p.G311D	AC005027.3_ENST00000416150.1_RNA|INHBA_ENST00000464515.1_5'UTR|INHBA_ENST00000442711.1_Missense_Mutation_p.G311D	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	311					cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|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|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity			biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						ACACTCCAAGCCCCGCCGACG	0.567000										TSP Lung(11;0.080)			10	97					0	0	0.00185496	0	0
PKP2	5318	broad.mit.edu	37	12	33031961	33031961	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:33031961G>A	ENST00000340811.4	-	2	337	c.229C>T	c.(229-231)Ctt>Ttt	p.L77F	PKP2_ENST00000070846.6_Missense_Mutation_p.L77F	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN	plakophilin 2	77					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					GTTCGGTGAAGATTTCCTGCA	0.338000													13	63					0	0	0.00244969	0	0
CDK13	8621	broad.mit.edu	37	7	40037154	40037154	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:40037154C>T	ENST00000181839.4	+	3	2538	c.1933C>T	c.(1933-1935)Ctt>Ttt	p.L645F	CDK13_ENST00000484589.1_3'UTR|CDK13_ENST00000340829.5_Missense_Mutation_p.L645F	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	645					alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						ACTCCGATGTCTTCTTGCTGA	0.368000													28	197					0	0	0.00209593	0	0
POMC	5443	broad.mit.edu	37	2	25384096	25384096	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:25384096G>A	ENST00000405623.1	-	3	1113	c.658C>T	c.(658-660)Ccc>Tcc	p.P220S	POMC_ENST00000395826.2_Missense_Mutation_p.P220S|POMC_ENST00000264708.3_Missense_Mutation_p.P220S|POMC_ENST00000380794.1_Missense_Mutation_p.P220S			P01189	COLI_HUMAN	proopiomelanocortin	220					cell-cell signaling|cellular nitrogen compound metabolic process|cellular pigmentation|generation of precursor metabolites and energy|hormone biosynthetic process|negative regulation of tumor necrosis factor production|neuropeptide signaling pathway|peptide hormone processing|positive regulation of transcription from RNA polymerase II promoter|regulation of appetite|regulation of blood pressure	extracellular space|stored secretory granule	hormone activity|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Hydrocortisone(DB00741)|Loperamide(DB00836)|Trilostane(DB01108)	ATCCTGTAGGGGCCCTCGTCC	0.697000													15	16					0	0	0.000958276	0	0
STXBP5L	9515	broad.mit.edu	37	3	121126335	121126335	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:121126335C>T	ENST00000273666.6	+	24	3176	c.2905C>T	c.(2905-2907)Ctt>Ttt	p.L969F	STXBP5L_ENST00000472879.1_Missense_Mutation_p.L945F|STXBP5L_ENST00000471454.1_Missense_Mutation_p.L945F|STXBP5L_ENST00000492541.1_Missense_Mutation_p.L969F|STXBP5L_ENST00000497029.1_Missense_Mutation_p.L943F	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	969					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)		TCAGACTTGCCTTTATGTTCA	0.423000													8	39					0	0	0.000274275	0	0
PRSS37	136242	broad.mit.edu	37	7	141536973	141536973	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:141536973C>T	ENST00000350549.3	-	4	877	c.506G>A	c.(505-507)gGa>gAa	p.G169E	PRSS37_ENST00000438520.1_Missense_Mutation_p.G169E	NM_001008270.2|NM_001171951.1	NP_001008271.2|NP_001165422.1	A4D1T9	PRS37_HUMAN	protease, serine, 37	169	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(3)	15						GTGGCTTTTTCCTTGTTCTGT	0.433000													12	84					0	0	0.000978159	0	0
GPR139	124274	broad.mit.edu	37	16	20043082	20043082	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:20043082C>T	ENST00000570682.1	-	2	1337	c.1037G>A	c.(1036-1038)gGa>gAa	p.G346E		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	346						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						TATAGGTTTTCCATTTTTGTC	0.458000													10	58					0	0	0.00136819	0	0
ZNF285	26974	broad.mit.edu	37	19	44890982	44890982	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:44890982C>T	ENST00000330997.4	-	4	1489	c.1425G>A	c.(1423-1425)caG>caA	p.Q475Q	ZNF285_ENST00000591679.1_Silent_p.Q482Q|ZNF285_ENST00000544719.2_Silent_p.Q475Q|CTC-512J12.6_ENST00000588212.1_Intron	NM_152354.3	NP_689567.3			zinc finger protein 285											breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						TGTGAACTCTCTGATGAGTGT	0.403000													9	23					0	0	0.000673444	0	0
CHAT	1103	broad.mit.edu	37	10	50827771	50827771	+	Splice_Site	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:50827771G>A	ENST00000395562.2	+	4	611	c.141_splice	c.e4-1	p.G48_splice	CHAT_ENST00000395559.2_Splice_Site_p.G12_splice|CHAT_ENST00000460699.1_3'UTR|CHAT_ENST00000337653.2_Splice_Site_p.G130_splice|CHAT_ENST00000351556.3_Splice_Site_p.G12_splice|CHAT_ENST00000455728.2_Splice_Site_p.G12_splice|CHAT_ENST00000339797.1_Splice_Site_p.G12_splice	NM_001142933.1|NM_001142934.1	NP_001136405.1|NP_001136406.1	P28329	CLAT_HUMAN	choline O-acetyltransferase	130					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	TTTCTTCCAGGGGCTGCCCAA	0.582000													5	14					0	0	0.000442599	0	0
FCHO1	23149	broad.mit.edu	37	19	17889664	17889664	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:17889664C>T	ENST00000594202.1	+	20	1877	c.1598C>T	c.(1597-1599)cCc>cTc	p.P533L	FCHO1_ENST00000596951.1_Missense_Mutation_p.P533L|FCHO1_ENST00000595033.1_Missense_Mutation_p.P483L|FCHO1_ENST00000252771.7_Missense_Mutation_p.P533L|FCHO1_ENST00000539407.1_Missense_Mutation_p.P533L|FCHO1_ENST00000389133.4_Missense_Mutation_p.P533L|FCHO1_ENST00000600676.1_Missense_Mutation_p.P533L|FCHO1_ENST00000596536.1_Missense_Mutation_p.P533L|FCHO1_ENST00000597512.1_Missense_Mutation_p.P540L	NM_001161357.1	NP_001154829.1	O14526	FCHO1_HUMAN	FCH domain only 1	533	Pro-rich.									NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						TCTCCAGGCCCCTGGGGGCTG	0.726000													5	10					0	0	0.00198382	0	0
HNRNPCL1	343069	broad.mit.edu	37	1	12907305	12907305	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:12907305C>T	ENST00000317869.6	-	2	1063	c.838G>A	c.(838-840)Gga>Aga	p.G280R		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1			heterogeneous nuclear ribonucleoprotein C-like 1											NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						TCATCCTCTCCTTCCTCAGCC	0.483000													11	152					0	0	0.00185496	0	0
CDH9	1007	broad.mit.edu	37	5	26885885	26885885	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:26885885C>T	ENST00000231021.4	-	11	1892	c.1720G>A	c.(1720-1722)Gat>Aat	p.D574N		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	574	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						ATTGGATAATCGTTGTCAAAG	0.453000													7	23					0	0	0.00307968	0	0
FAT4	79633	broad.mit.edu	37	4	126336765	126336765	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:126336765C>A	ENST00000394329.3	+	5	6660	c.6647C>A	c.(6646-6648)cCt>cAt	p.P2216H	FAT4_ENST00000335110.5_Missense_Mutation_p.P514H	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2216	Cadherin 21.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			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						GTCGCTAAACCTTTGGATAGA	0.463000													20	16					2.70639e-06	7.86712e-06	0.00229938	1	0
SEC24D	9871	broad.mit.edu	37	4	119654012	119654012	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:119654012T>G	ENST00000379735.5	-	20	2826	c.2555A>C	c.(2554-2556)aAa>aCa	p.K852T	SEC24D_ENST00000505134.1_5'UTR|SEC24D_ENST00000429811.2_3'UTR|SEC24D_ENST00000511481.1_Missense_Mutation_p.K482T|SEC24D_ENST00000280551.6_Missense_Mutation_p.K851T	NM_014822.2	NP_055637.2	O94855	SC24D_HUMAN	SEC24 family member D	851					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						TACACAGTTTTTCAACAAGCA	0.413000													13	59					0	0	0.00400662	0	0
C1orf173	127254	broad.mit.edu	37	1	75037852	75037852	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:75037852C>T	ENST00000326665.5	-	14	3760	c.3542G>A	c.(3541-3543)aGa>aAa	p.R1181K	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1181	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						TTCACTCAGTCTTTCCCCTCC	0.507000													11	46					0	0	0.000673444	0	0
TULP1	7287	broad.mit.edu	37	6	35477063	35477063	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:35477063C>T	ENST00000229771.6	-	8	824	c.745G>A	c.(745-747)Gaa>Aaa	p.E249K	TULP1_ENST00000322263.4_Missense_Mutation_p.E196K	NM_003322.3	NP_003313.3	O00294	TULP1_HUMAN	tubby like protein 1	249	Poly-Glu.				dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						TCCTCTTCTTCCTCCTTCCTC	0.557000													52	330					0	0	0.00361006	0	0
PRDM14	63978	broad.mit.edu	37	8	70981484	70981484	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:70981484G>A	ENST00000276594.2	-	2	813	c.612C>T	c.(610-612)ttC>ttT	p.F204F		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	204					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			CGTACAGAACGAAGTGCAGGT	0.602000													31	35					0	0	0.00283554	0	0
CCDC74A	90557	broad.mit.edu	37	2	132290261	132290261	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:132290261C>T	ENST00000295171.6	+	5	921	c.783C>T	c.(781-783)atC>atT	p.I261I	CCDC74A_ENST00000409856.3_Silent_p.I195I|CCDC74A_ENST00000467992.2_3'UTR	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	261										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						CCCCAATGATCCTGCCCCTTC	0.617000													6	37					0	0	0.00198382	0	0
SYNE1	23345	broad.mit.edu	37	6	152716751	152716751	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:152716751A>G	ENST00000367255.5	-	51	8213	c.7612T>C	c.(7612-7614)Ttc>Ctc	p.F2538L	SYNE1_ENST00000423061.1_Missense_Mutation_p.F2545L|SYNE1_ENST00000448038.1_Missense_Mutation_p.F2545L|SYNE1_ENST00000341594.5_Missense_Mutation_p.F2577L|SYNE1_ENST00000265368.4_Missense_Mutation_p.F2538L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2538					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCCGTATTGAACCTTTCTTCC	0.373000										HNSCC(10;0.0054)			13	41					0	0	0.00136819	0	0
OR1S1	219959	broad.mit.edu	37	11	57983146	57983146	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:57983146G>A	ENST00000309433.6	+	1	930	c.930G>A	c.(928-930)atG>atA	p.M310I		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, member 1	310					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				ATAAGGATATGAAAGGTGCCC	0.423000													10	52					0	0	0.000978159	0	0
SLC25A52	147407	broad.mit.edu	37	18	29339732	29339732	+	Splice_Site	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:29339732C>T	ENST00000579441.2	-	1	892	c.891_splice	c.e1+1	p.*298_splice	SLC25A52_ENST00000269205.5_Silent_p.*308*			Q3SY17	MCAR2_HUMAN	solute carrier family 25, member 52	0					transport	integral to membrane|mitochondrial inner membrane											GGTTTTTTTTCATATAAATTT	0.363000													20	60					0	0	0.00188189	0	0
EMX1	2016	broad.mit.edu	37	2	73145330	73145330	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:73145330C>G	ENST00000258106.6	+	1	727	c.349C>G	c.(349-351)Ctc>Gtc	p.L117V	EMX1_ENST00000394111.5_Intron	NM_004097.2	NP_004088.2	Q04741	EMX1_HUMAN	empty spiracles homeobox 1	84						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(2)|lung(3)	6						TGGGCCCGAGCTCGTGTTCCC	0.756000													4	5					0	0	0.00116845	0	0
PRG4	10216	broad.mit.edu	37	1	186273948	186273948	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:186273948A>C	ENST00000445192.2	+	6	537	c.492A>C	c.(490-492)caA>caC	p.Q164H	PRG4_ENST00000367486.3_Intron|PRG4_ENST00000367483.4_Missense_Mutation_p.Q123H|PRG4_ENST00000367484.3_Missense_Mutation_p.Q123H|PRG4_ENST00000367485.4_Intron	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	164	Ser-rich.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CTGAAAATCAAGAGtcctcct	0.358000													12	52					0	0	0.000978159	0	0
TCF12	6938	broad.mit.edu	37	15	57384059	57384059	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:57384059C>T	ENST00000267811.5	+	5	599	c.295C>T	c.(295-297)Cca>Tca	p.P99S	TCF12_ENST00000557843.1_Missense_Mutation_p.P99S|TCF12_ENST00000438423.2_Missense_Mutation_p.P99S|TCF12_ENST00000333725.5_Missense_Mutation_p.P99S|TCF12_ENST00000452095.2_Missense_Mutation_p.P95S	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	99					immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		AGGCTTGTCCCCAACACCTTT	0.418000			T	TEC	extraskeletal myxoid chondrosarcoma								11	40					0	0	0.00185496	0	0
IL1RAPL1	11141	broad.mit.edu	37	X	29973593	29973593	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:29973593G>A	ENST00000378993.1	+	11	2420	c.1747G>A	c.(1747-1749)Gag>Aag	p.E583K	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.E583K	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	583	Interaction with NCS1.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						GCCTTTTGGGGAGCTGCAGAC	0.507000													4	15					0	0	0.00024832	0	0
C1orf141	400757	broad.mit.edu	37	1	67592890	67592890	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:67592890G>A	ENST00000371007.2	-	3	143	c.34C>T	c.(34-36)Ctt>Ttt	p.L12F	C1orf141_ENST00000371006.1_Missense_Mutation_p.L12F|C1orf141_ENST00000544837.1_Missense_Mutation_p.L12F	NM_001276351.1	NP_001263280.1	Q5JVX7	CA141_HUMAN	chromosome 1 open reading frame 141	12										NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18						TGCTTATCAAGGACATCCAAC	0.313000													27	106					0	0	0.00283554	0	0
FGF13	2258	broad.mit.edu	37	X	137715087	137715087	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:137715087C>T	ENST00000315930.6	-	5	1323	c.662G>A	c.(661-663)gGg>gAg	p.G221E	FGF13_ENST00000541469.1_Missense_Mutation_p.G175E|FGF13_ENST00000370603.3_Missense_Mutation_p.G231E|FGF13_ENST00000441825.2_Missense_Mutation_p.G202E|FGF13_ENST00000305414.4_Missense_Mutation_p.G168E	NM_004114.3	NP_004105.1	Q92913	FGF13_HUMAN	fibroblast growth factor 13	221					cell-cell signaling|MAPKKK cascade|nervous system development	cytoplasm|nucleus	growth factor activity|protein kinase activator activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24	Acute lymphoblastic leukemia(192;0.000127)					GGTTGGGGTCCCGCTTCCAGA	0.522000													11	22					0	0	0.00185496	0	0
CLMP	79827	broad.mit.edu	37	11	122968638	122968638	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:122968638C>T	ENST00000448775.2	-	2	391	c.51G>A	c.(49-51)ttG>ttA	p.L17L		NM_024769.2	NP_079045.1	Q9H6B4	CLMP_HUMAN	CXADR-like membrane protein	17						integral to membrane|tight junction				endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	14						TGTGAGTCCCCAAGGTTCCAA	0.443000													26	82					0	0	0.00127121	0	0
GALP	85569	broad.mit.edu	37	19	56694574	56694574	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:56694574G>A	ENST00000357330.2	+	5	370	c.288G>A	c.(286-288)gaG>gaA	p.E96E	GALP_ENST00000440823.1_3'UTR	NM_033106.3	NP_149097.1	Q9UBC7	GALP_HUMAN	galanin-like peptide	96					neuropeptide signaling pathway	extracellular region	hormone activity			lung(4)	4		Colorectal(82;0.000147)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0507)		CCAAACCAGAGATTGGAGGTA	0.507000													11	37					0	0	0.00185496	0	0
FEZF1	389549	broad.mit.edu	37	7	121942985	121942985	+	Splice_Site	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:121942985C>T	ENST00000442488.2	-	3	1004	c.936_splice	c.e3-1	p.E313_splice	FEZF1_ENST00000331178.4_Splice_Site_p.E309_splice|FEZF1_ENST00000427185.2_Splice_Site_p.E263_splice	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	313					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						TGAGGTTTTTCCTAAGCAGGA	0.383000													25	146					0	0	0.001512	0	0
AMER3	205147	broad.mit.edu	37	2	131520273	131520273	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:131520273C>T	ENST00000423981.1	+	2	738	c.628C>T	c.(628-630)Ctg>Ttg	p.L210L	AMER3_ENST00000321420.4_Silent_p.L210L	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2			APC membrane recruitment protein 3																		GGGGCCGGGGCTGGACGGCCT	0.701000													10	13					0	0	0.000673444	0	0
KLHL40	131377	broad.mit.edu	37	3	42729766	42729766	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:42729766C>T	ENST00000287777.4	+	2	1385	c.1285C>T	c.(1285-1287)Ctg>Ttg	p.L429L		NM_152393.2	NP_689606.2			kelch-like family member 40																		CGAGCGCTGCCTGGACTCGGT	0.667000													9	18					0	0	0.00136819	0	0
TTN	7273	broad.mit.edu	37	2	179604168	179604168	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:179604168C>T	ENST00000589042.1	-	48	14016	c.13792G>A	c.(13792-13794)Ggt>Agt	p.G4598S	TTN_ENST00000342175.6_Missense_Mutation_p.G4427S|TTN_ENST00000460472.2_Missense_Mutation_p.G4235S|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G4281S|TTN_ENST00000359218.5_Missense_Mutation_p.G4360S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4281	Ig-like 26.						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)			ATTAAGCCACCCTCAGCTTCC	0.428000													8	20					0	0	0.00307968	0	0
DCHS2	54798	broad.mit.edu	37	4	155242155	155242155	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:155242155C>T	ENST00000357232.3	-	14	3030	c.3031G>A	c.(3031-3033)Gaa>Aaa	p.E1011K		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1011	Cadherin 8.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TAATCAAGTTCCTTAGAAAGA	0.363000													20	46					0	0	0.00229938	0	0
PRKCG	5582	broad.mit.edu	37	19	54406348	54406348	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:54406348G>A	ENST00000263431.3	+	15	1879	c.1597G>A	c.(1597-1599)Ggg>Agg	p.G533R	PRKCG_ENST00000542049.1_Missense_Mutation_p.G420R|PRKCG_ENST00000540413.1_Missense_Mutation_p.G533R	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	533	Protein kinase.				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		CCAGCCCTATGGGAAGTCTGT	0.552000													41	148					0	0	0.00361006	0	0
CD163	9332	broad.mit.edu	37	12	7640497	7640497	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:7640497C>T	ENST00000359156.4	-	7	1809	c.1607G>A	c.(1606-1608)gGa>gAa	p.G536E	CD163_ENST00000541972.1_Missense_Mutation_p.G524E|CD163_ENST00000432237.2_Missense_Mutation_p.G536E|CD163_ENST00000396620.3_Missense_Mutation_p.G536E	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	536	SRCR 5.				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						CTGTCCATTTCCCTCTCCAAA	0.532000													9	15					0	0	0.000442599	0	0
ACE	1636	broad.mit.edu	37	17	61571732	61571732	+	Splice_Site	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:61571732G>A	ENST00000577647.1	+	11	1604		c.e11-1		ACE_ENST00000290863.6_Splice_Site|ACE_ENST00000413513.3_Splice_Site|ACE_ENST00000490216.2_Splice_Site|ACE_ENST00000428043.1_Splice_Site|ACE_ENST00000421982.2_Splice_Site|ACE_ENST00000290866.4_Splice_Site			P12821	ACE_HUMAN	angiotensin I converting enzyme						arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	CCACTCGACAGGCTGAAGTAC	0.557000													8	24					0	0	0.000442599	0	0
RP1	6101	broad.mit.edu	37	8	55538799	55538799	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:55538799G>A	ENST00000220676.1	+	4	2505	c.2357G>A	c.(2356-2358)aGc>aAc	p.S786N		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	786					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)			AATAAAATAAGCTTAGGAGCA	0.274000													70	123					0	0	0.00361006	0	0
OR5H2	79310	broad.mit.edu	37	3	98002086	98002086	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:98002086C>T	ENST00000355273.2	+	1	355	c.355C>T	c.(355-357)Ctc>Ttc	p.L119F	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005482.1	NP_001005482.1	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H, member 2	119					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L119I(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						AGAATGTTTTCTCTTGGCAAC	0.363000													14	47					0	0	0.00185496	0	0
DHX40	79665	broad.mit.edu	37	17	57650551	57650551	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:57650551C>T	ENST00000451169.2	+	4	563	c.204C>T	c.(202-204)ttC>ttT	p.F68F	DHX40_ENST00000251241.4_Silent_p.F167F|DHX40_ENST00000425628.3_Silent_p.F90F			Q8IX18	DHX40_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 40	167	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(7)|large_intestine(6)|lung(6)|prostate(1)	20	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TTACCAAATTCAGTGTCATTA	0.328000													71	142					0	0	0.00361006	0	0
NUP205	23165	broad.mit.edu	37	7	135300744	135300744	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:135300744C>T	ENST00000285968.6	+	24	3417	c.3391C>T	c.(3391-3393)Cgt>Tgt	p.R1131C		NM_015135.2	NP_055950.1	Q92621	NU205_HUMAN	nucleoporin 205kDa	1131					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						CTCTCTGAATCGTCAGCGGTC	0.403000													74	31					0	0	0.00361006	0	0
VTN	7448	broad.mit.edu	37	17	26696819	26696819	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:26696819C>T	ENST00000226218.4	-	3	856	c.238G>A	c.(238-240)Gat>Aat	p.D80N	SEBOX_ENST00000536498.1_5'UTR|CTB-96E2.3_ENST00000591482.1_RNA|TMEM199_ENST00000509083.1_Intron|SARM1_ENST00000379061.4_Intron	NM_000638.3	NP_000629.3	P04004	VTNC_HUMAN	vitronectin	80					cell adhesion mediated by integrin|immune response|negative regulation of endopeptidase activity|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein binding|positive regulation of receptor-mediated endocytosis|positive regulation of smooth muscle cell migration|positive regulation of vascular endothelial growth factor receptor signaling pathway|smooth muscle cell-matrix adhesion	alphav-beta3 integrin-vitronectin complex|extracellular space	heparin binding|integrin binding|scavenger receptor activity			kidney(2)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	13	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Urokinase(DB00013)	TCCTCGCCATCGTCATAGACC	0.592000													17	24					0	0	0.00188189	0	0
LRFN2	57497	broad.mit.edu	37	6	40400047	40400047	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:40400047C>T	ENST00000338305.6	-	2	1348	c.806G>A	c.(805-807)gGg>gAg	p.G269E		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	269	LRRCT.					cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					CTTGAGGCCCCCTGGGGAGCC	0.582000													7	33					0	0	0.00198382	0	0
FAM177B	400823	broad.mit.edu	37	1	222919965	222919965	+	Silent	SNP	C	C	T	rs140872706	byFrequency	TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:222919965C>T	ENST00000445590.2	+	3	344	c.78C>T	c.(76-78)atC>atT	p.I26I	FAM177B_ENST00000360827.2_Silent_p.I26I	NM_207468.2	NP_997351.2	A6PVY3	F177B_HUMAN	family with sequence similarity 177, member B	26										breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	8						AAAGGATTATCCATTTTGTTG	0.408000													10	35					0	0	0.000978159	0	0
GIMAP6	474344	broad.mit.edu	37	7	150327167	150327167	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:150327167G>A	ENST00000328902.5	-	2	280	c.64C>T	c.(64-66)Cct>Tct	p.P22S	GIMAP6_ENST00000493969.1_Missense_Mutation_p.P22S	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	22							GTP binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCCAGCACAGGATCCTGGGAC	0.453000													29	169					0	0	0.00375469	0	0
SLC26A5	375611	broad.mit.edu	37	7	103033422	103033422	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:103033422T>C	ENST00000306312.3	-	10	1324	c.1063A>G	c.(1063-1065)Atc>Gtc	p.I355V	SLC26A5_ENST00000432958.2_Missense_Mutation_p.I355V|SLC26A5_ENST00000393723.1_Missense_Mutation_p.I355V|SLC26A5_ENST00000393727.1_Missense_Mutation_p.I355V|SLC26A5_ENST00000393729.1_Missense_Mutation_p.I318V|SLC26A5_ENST00000393730.1_Missense_Mutation_p.I355V|SLC26A5_ENST00000393735.2_Missense_Mutation_p.I355V|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000354356.4_Intron|SLC26A5_ENST00000339444.6_Missense_Mutation_p.I355V	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	355					regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						GCCATGGAGATGGTCACTGAA	0.468000													8	89					0	0	0.000274275	0	0
ST18	9705	broad.mit.edu	37	8	53073993	53073993	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:53073993G>A	ENST00000276480.7	-	14	2219	c.1536C>T	c.(1534-1536)ttC>ttT	p.F512F		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	512						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				GGCGTTTACCGAAAACTTGGG	0.438000													14	103					0	0	0.00316338	0	0
WDR33	55339	broad.mit.edu	37	2	128479482	128479482	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:128479482C>G	ENST00000322313.4	-	15	1757	c.1599G>C	c.(1597-1599)gaG>gaC	p.E533D		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	533					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		TTTTTTTCTTCTCTTCCAATT	0.388000													19	84					0	0	0.00074312	0	0
CCDC60	160777	broad.mit.edu	37	12	119968742	119968742	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:119968742C>T	ENST00000327554.2	+	13	1890	c.1425C>T	c.(1423-1425)atC>atT	p.I475I	RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	475										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		CCAAAAAGATCCTGGTGAAAC	0.488000													17	42					0	0	0.000958276	0	0
TPRKB	51002	broad.mit.edu	37	2	73957738	73957738	+	Silent	SNP	C	C	T	rs144417465	by1000genomes	TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:73957738C>T	ENST00000318190.7	-	5	627	c.507G>A	c.(505-507)caG>caA	p.Q169Q	TPRKB_ENST00000409716.2_Silent_p.Q169Q|TPRKB_ENST00000485758.1_5'UTR|TPRKB_ENST00000272424.5_Silent_p.Q130Q			Q9Y3C4	TPRKB_HUMAN	TP53RK binding protein	130					protein catabolic process	cytosol|nucleus	protein kinase binding			lung(2)|ovary(1)|skin(1)	4						TCAGAGAAACCTGATGACCTT	0.313000													33	49					0	0	0.00283554	0	0
DHRSX	207063	broad.mit.edu	37	X	2209608	2209608	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:2209608G>A	ENST00000334651.5	-	4	375	c.323C>T	c.(322-324)tCc>tTc	p.S108F		NM_145177.2	NP_660160.2	Q8N5I4	DHRSX_HUMAN	dehydrogenase/reductase (SDR family) X-linked	108							binding|oxidoreductase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)	16		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				CTGCCGGATGGAAGTCATGGA	0.418000													41	113					0	0	0.00361006	0	0
TMC5	79838	broad.mit.edu	37	16	19477445	19477445	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:19477445C>T	ENST00000396229.2	+	9	2276	c.1527C>T	c.(1525-1527)acC>acT	p.T509T	TMC5_ENST00000541464.1_Silent_p.T509T|TMC5_ENST00000564959.1_Silent_p.T192T|TMC5_ENST00000561503.1_Silent_p.T150T|TMC5_ENST00000219821.5_Silent_p.T263T|TMC5_ENST00000381414.4_Silent_p.T509T|TMC5_ENST00000542583.2_Silent_p.T509T	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	509						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						GCTTTTACACCAATTCCACCA	0.458000													4	21					0	0	0.00024832	0	0
A2M	2	broad.mit.edu	37	12	9230416	9230416	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:9230416G>A	ENST00000318602.7	-	26	3464	c.3157C>T	c.(3157-3159)Cga>Tga	p.R1053*	A2M_ENST00000542567.1_5'UTR	NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN	alpha-2-macroglobulin	1053					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)	ATGTAGGCTCGAGCTTGGGCA	0.473000													9	33					0	0	0.000673444	0	0
STK31	56164	broad.mit.edu	37	7	23871972	23871972	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:23871972A>G	ENST00000354639.3	+	24	3442	c.2978A>G	c.(2977-2979)aAc>aGc	p.N993S	STK31_ENST00000405627.3_3'UTR|STK31_ENST00000433467.2_Missense_Mutation_p.N993S|STK31_ENST00000428484.1_Missense_Mutation_p.N993S|STK31_ENST00000355870.3_Missense_Mutation_p.N1016S	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	1016	Protein kinase.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						GGTGAAGCCAACTTTGATTGT	0.318000													29	194					0	0	0.00327116	0	0
SLC22A10	387775	broad.mit.edu	37	11	63065041	63065041	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:63065041G>A	ENST00000544661.1	+	5	635	c.207G>A	c.(205-207)tgG>tgA	p.W69*	SLC22A10_ENST00000332793.6_Nonsense_Mutation_p.W224*|SLC22A10_ENST00000525620.1_3'UTR|SLC22A10_ENST00000535888.1_Nonsense_Mutation_p.W14*|SLC22A10_ENST00000526800.1_Intron			Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	224						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						TTACTGAGTGGATAAGGCCCA	0.388000													5	41					0	0	0.00116845	0	0
ZDBF2	57683	broad.mit.edu	37	2	207174246	207174246	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:207174246G>A	ENST00000374423.3	+	5	5380	c.4994G>A	c.(4993-4995)gGa>gAa	p.G1665E		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1665							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						GGTTCTAAAGGAAAATTTAAT	0.408000													26	56					0	0	0.000878237	0	0
CCR1	1230	broad.mit.edu	37	3	46245712	46245712	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:46245712G>A	ENST00000296140.3	-	2	218	c.93C>T	c.(91-93)gcC>gcT	p.A31A	CCR3_ENST00000357422.2_Intron	NM_001295.2	NP_001286.1	P32246	CCR1_HUMAN	chemokine (C-C motif) receptor 1	31					cell adhesion|cell-cell signaling|cytokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	integral to plasma membrane	C-C chemokine receptor activity			autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3)	17				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		GGGCCCCAAAGGCCCTCTCGT	0.542000													5	10					0	0	0.000602214	0	0
OR2T12	127064	broad.mit.edu	37	1	248458150	248458150	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:248458150G>A	ENST00000317996.1	-	1	730	c.731C>T	c.(730-732)gCt>gTt	p.A244V		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	244					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			TCCCACCACAGCCACATGTGA	0.507000													15	48					0	0	0.00316338	0	0
CHD6	84181	broad.mit.edu	37	20	40081527	40081527	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:40081527G>A	ENST00000373233.3	-	21	3353	c.3176C>T	c.(3175-3177)tCg>tTg	p.S1059L	CHD6_ENST00000309279.7_Intron	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1059					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TTCCTCAAACGAGTTGTAGTG	0.502000													7	37					0	0	0.000274275	0	0
VCAN	1462	broad.mit.edu	37	5	82834415	82834415	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:82834415G>A	ENST00000265077.3	+	8	6158	c.5593G>A	c.(5593-5595)Gaa>Aaa	p.E1865K	VCAN_ENST00000512590.2_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000343200.5_Missense_Mutation_p.E878K	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1865	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		AGCCGAAAAGGAAGTAGCTGG	0.458000													20	73					0	0	0.00278032	0	0
TTC17	55761	broad.mit.edu	37	11	43421508	43421508	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:43421508G>A	ENST00000039989.4	+	9	1143	c.1129G>A	c.(1129-1131)Gaa>Aaa	p.E377K	TTC17_ENST00000526774.1_3'UTR|TTC17_ENST00000299240.6_Missense_Mutation_p.E377K	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	377							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						GAGACAGCAGGAAATCCTAGA	0.368000													15	64					0	0	0.00400662	0	0
CD2	914	broad.mit.edu	37	1	117311124	117311124	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:117311124G>A	ENST00000369478.3	+	5	883	c.775G>A	c.(775-777)Gaa>Aaa	p.E259K		NM_001767.3	NP_001758.2	P06729	CD2_HUMAN	CD2 molecule	259					blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation|T cell activation	integral to plasma membrane	receptor activity			NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	Alefacept(DB00092)	AGTAGCTACTGAAGAAAGGGG	0.502000													5	17					0	0	0.000602214	0	0
TMEM132D	121256	broad.mit.edu	37	12	129822329	129822329	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:129822329G>A	ENST00000422113.2	-	4	1475	c.1149C>T	c.(1147-1149)atC>atT	p.I383I		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	383						integral to membrane		p.I383I(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CCTCCACATCGATCTGCATGA	0.587000													17	70					0	0	0.000958276	0	0
KMT2E	55904	broad.mit.edu	37	7	104715193	104715193	+	Silent	SNP	T	T	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:104715193T>C	ENST00000334877.4	+	8	1194	c.660T>C	c.(658-660)gtT>gtC	p.V220V	KMT2E_ENST00000334914.7_5'UTR|KMT2E_ENST00000257745.4_Silent_p.V220V|KMT2E_ENST00000311117.3_Silent_p.V220V|KMT2E_ENST00000476671.1_Silent_p.V220V					lysine (K)-specific methyltransferase 2E																		CTTCAAGAGTTTCCAAAGTTA	0.363000													20	112					0	0	0.00152264	0	0
TMPRSS11A	339967	broad.mit.edu	37	4	68780365	68780365	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:68780365C>T	ENST00000508048.1	-	9	1068	c.1033G>A	c.(1033-1035)Gat>Aat	p.D345N	RP11-453E17.1_ENST00000500538.2_RNA|TMPRSS11A_ENST00000334830.7_Missense_Mutation_p.D349N|TMPRSS11A_ENST00000396188.2_Missense_Mutation_p.D346N			Q6ZMR5	TM11A_HUMAN	transmembrane protease, serine 11A	349	Peptidase S1.				cell cycle|proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	p.D349H(1)		breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	29						GGTTTTATATCATTGCCATAC	0.383000													13	80					0	0	0.00185496	0	0
OR4K15	81127	broad.mit.edu	37	14	20444427	20444427	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:20444427G>A	ENST00000305051.5	+	1	825	c.750G>A	c.(748-750)agG>agA	p.R250R		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	250					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTACAGTTAGGAATCGCTCCT	0.438000													8	19					0	0	0.00307968	0	0
SLC44A4	80736	broad.mit.edu	37	6	31842599	31842599	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:31842599C>T	ENST00000544672.1	-	6	435	c.139G>A	c.(139-141)Gac>Aac	p.D47N	SLC44A4_ENST00000375562.4_Intron|SLC44A4_ENST00000465707.1_5'UTR|SLC44A4_ENST00000229729.6_Missense_Mutation_p.D123N	NM_001178045.1	NP_001171516.1	Q53GD3	CTL4_HUMAN	solute carrier family 44, member 4	123						integral to membrane|plasma membrane	choline transmembrane transporter activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	GTCCATGGGTCCTCCGGGCAG	0.542000													48	338					0	0	0.00361006	0	0
TENM2	57451	broad.mit.edu	37	5	167645207	167645207	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:167645207C>T	ENST00000519204.1	+	22	4066	c.3948C>T	c.(3946-3948)atC>atT	p.I1316I	TENM2_ENST00000403607.2_Silent_p.I1261I|TENM2_ENST00000520394.1_Silent_p.I1198I|TENM2_ENST00000518659.1_Silent_p.I1437I|TENM2_ENST00000545108.1_Silent_p.I1436I					teneurin transmembrane protein 2																		ACAATGTCATCCTTCGAATCA	0.498000													44	59					0	0	0.00361006	0	0
KRT4	3851	broad.mit.edu	37	12	53202105	53202105	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:53202105C>T	ENST00000293774.4	-	6	1590	c.1320G>A	c.(1318-1320)cgG>cgA	p.R440R	KRT4_ENST00000458244.2_Silent_p.R346R|KRT4_ENST00000551956.1_Silent_p.R366R			B4DRS2	B4DRS2_HUMAN	keratin 4	366						keratin filament	structural molecule activity			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						CGATCTCTGCCCGCAGCCTCT	0.547000													11	77					0	0	0.00316338	0	0
DYDC1	143241	broad.mit.edu	37	10	82098873	82098873	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:82098873C>G	ENST00000421924.2	-	5	790	c.379G>C	c.(379-381)Gaa>Caa	p.E127Q	DYDC1_ENST00000372204.3_Missense_Mutation_p.E127Q|DYDC1_ENST00000372202.1_Missense_Mutation_p.E127Q			Q8WWB3	DYDC1_HUMAN	DPY30 domain containing 1	127										kidney(1)|large_intestine(3)|skin(1)	5			Colorectal(32;0.229)			AGAATATCTTCATTCCTAACT	0.254000													8	30					0	0	0.000274275	0	0
SPTLC3	55304	broad.mit.edu	37	20	13029765	13029765	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:13029765G>A	ENST00000399002.2	+	2	564	c.290G>A	c.(289-291)aGa>aAa	p.R97K	SPTLC3_ENST00000378194.4_Missense_Mutation_p.R97K|SPTLC3_ENST00000476791.1_3'UTR	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3	97					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25					Pyridoxal Phosphate(DB00114)	GCTGTGGAAAGAAAAGAACAA	0.428000													14	41					0	0	0.00244969	0	0
ZNF594	84622	broad.mit.edu	37	17	5086753	5086753	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:5086753A>C	ENST00000399604.4	-	1	939	c.799T>G	c.(799-801)Tat>Gat	p.Y267D	ZNF594_ENST00000575779.1_Missense_Mutation_p.Y267D			Q96JF6	ZN594_HUMAN	zinc finger protein 594	267					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TAACATTCATAGGGTTTCTCT	0.408000													45	17					0	0	0.00321405	0	0
BRE	9577	broad.mit.edu	37	2	28550225	28550225	+	Silent	SNP	C	C	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:28550225C>A	ENST00000344773.2	+	12	1311	c.1173C>A	c.(1171-1173)ctC>ctA	p.L391L	BRE_ENST00000342045.2_Intron|BRE_ENST00000379624.1_Intron|BRE_ENST00000379632.2_Intron|BRE_ENST00000361704.2_Intron	NM_004899.4	NP_004890.2	Q9NXR7	BRE_HUMAN	brain and reproductive organ-expressed (TNFRSF1A modulator)	0					apoptosis|chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of anti-apoptosis|positive regulation of DNA repair|response to ionizing radiation|signal transduction	BRCA1-A complex|BRISC complex|cytoplasm|nuclear ubiquitin ligase complex	peroxisome targeting sequence binding|polyubiquitin binding|tumor necrosis factor receptor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2)	23	Acute lymphoblastic leukemia(172;0.155)					GCAAGCTGCTCCAGCCCCAGA	0.557000													42	49					5.73435e-26	1.67967e-25	0.00361006	1	0
CTNNB1	1499	broad.mit.edu	37	3	41280628	41280628	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:41280628C>T	ENST00000349496.5	+	15	2421	c.2141C>T	c.(2140-2142)cCt>cTt	p.P714L	CTNNB1_ENST00000396185.3_Missense_Mutation_p.P714L|CTNNB1_ENST00000453024.1_Missense_Mutation_p.P707L|CTNNB1_ENST00000396183.3_Missense_Mutation_p.P714L|CTNNB1_ENST00000471014.1_3'UTR|CTNNB1_ENST00000405570.1_Missense_Mutation_p.P714L	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	714					adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	p.P714R(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	CTTCTAGATCCTAGCTATCGT	0.502000		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of				11	29					0	0	0.00185496	0	0
EFCAB1	79645	broad.mit.edu	37	8	49643123	49643123	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:49643123C>T	ENST00000433756.1	-	2	298	c.139G>A	c.(139-141)Gga>Aga	p.G47R	EFCAB1_ENST00000523092.1_Missense_Mutation_p.G47R|EFCAB1_ENST00000521002.1_Intron|EFCAB1_ENST00000262103.3_Missense_Mutation_p.G99R	NM_001142857.1	NP_001136329.1	Q9HAE3	EFCB1_HUMAN	EF-hand calcium binding domain 1	99							calcium ion binding			endometrium(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(2)	14		all_epithelial(80;0.0134)|Lung NSC(129;0.0207)|all_lung(136;0.0464)				TCCAAAGATCCTCGAAGAAAC	0.338000													7	54					0	0	0.000673444	0	0
PRAMEF10	343071	broad.mit.edu	37	1	12954863	12954863	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:12954863C>T	ENST00000235347.4	-	3	499	c.420G>A	c.(418-420)agG>agA	p.R140R		NM_001039361.3	NP_001034450.2	O60809	PRA10_HUMAN	PRAME family member 10	140										NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|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)		GCTCTCCCATCCTTGGACAGT	0.517000													22	21					0	0	0.00278032	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5182167	5182167	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:5182167T>A	ENST00000274181.7	+	4	650	c.512T>A	c.(511-513)aTa>aAa	p.I171K	ADAMTS16_ENST00000511368.1_Missense_Mutation_p.I171K	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	171					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						TCAGGCATGATACGAACAGAA	0.458000													14	79					0	0	0.00121646	0	0
DSCAML1	57453	broad.mit.edu	37	11	117391858	117391858	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:117391858G>A	ENST00000321322.6	-	6	1381	c.1380C>T	c.(1378-1380)atC>atT	p.I460I	DSCAML1_ENST00000527706.1_Silent_p.I190I	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	400	Ig-like C2-type 5.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CAAGTGCAATGATGGCAAAGT	0.647000													11	43					0	0	0.00136819	0	0
EGR1	1958	broad.mit.edu	37	5	137802972	137802972	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:137802972G>A	ENST00000239938.4	+	2	1106	c.834G>A	c.(832-834)gaG>gaA	p.E278E		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	278					cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			AGGGCCTGGAGAGCCGCACCC	0.617000													6	31					0	0	0.00307968	0	0
EFTUD1	79631	broad.mit.edu	37	15	82532858	82532858	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:82532858G>A	ENST00000268206.7	-	6	585	c.417C>T	c.(415-417)atC>atT	p.I139I	EFTUD1_ENST00000359445.3_Silent_p.I88I	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain containing 1	139					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						AAACCGGACGGATGTTTTCAA	0.368000													7	41					0	0	0.00307968	0	0
MUC16	94025	broad.mit.edu	37	19	9063016	9063016	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:9063016C>T	ENST00000397910.4	-	3	24633	c.24430G>A	c.(24430-24432)Gga>Aga	p.G8144R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8146	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						GTGGGCACTCCAGAAAGGACA	0.537000													11	25					0	0	0.000978159	0	0
TYW1	55253	broad.mit.edu	37	7	66489954	66489954	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:66489954C>T	ENST00000359626.5	+	7	1093	c.929C>T	c.(928-930)tCc>tTc	p.S310F		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	310					tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity			breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				AGCCTAAATTCCATTGTTGAT	0.428000													9	103					0	0	0.000673444	0	0
CSMD1	64478	broad.mit.edu	37	8	3889576	3889576	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:3889576C>T	ENST00000602557.1	-	4	1016	c.461G>A	c.(460-462)gGa>gAa	p.G154E	CSMD1_ENST00000537824.1_Missense_Mutation_p.G154E|CSMD1_ENST00000542608.1_Missense_Mutation_p.G154E|CSMD1_ENST00000539096.1_Missense_Mutation_p.G154E|CSMD1_ENST00000400186.3_Missense_Mutation_p.G154E|CSMD1_ENST00000520002.1_Missense_Mutation_p.G154E|CSMD1_ENST00000602723.1_Missense_Mutation_p.G154E			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	154	Sushi 1.					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)		ATGCAGAACTCCTTTCAGGAT	0.448000													13	42					0	0	0.00316338	0	0
HECW2	57520	broad.mit.edu	37	2	197208412	197208412	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:197208412C>T	ENST00000260983.2	-	3	551	c.369G>A	c.(367-369)tgG>tgA	p.W123*	HECW2_ENST00000409111.1_5'UTR	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	123					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						GCTCAATTCTCCATACAATTT	0.373000													63	136					0	0	0.00361006	0	0
DYRK4	8798	broad.mit.edu	37	12	4700454	4700454	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:4700454G>A	ENST00000540757.2	+	3	268	c.108G>A	c.(106-108)ctG>ctA	p.L36L	DYRK4_ENST00000543431.1_Silent_p.L36L|DYRK4_ENST00000010132.5_Silent_p.L36L	NM_003845.1	NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4	36						Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.L438L(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			AGGTGACTCTGACAGCGGCAG	0.537000													8	25					0	0	0.000274275	0	0
WIZ	58525	broad.mit.edu	37	19	15547765	15547765	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:15547765G>A	ENST00000389282.4	-	4	2661	c.2448C>T	c.(2446-2448)acC>acT	p.T816T	WIZ_ENST00000595214.2_5'UTR|WIZ_ENST00000263381.6_Silent_p.T127T			O95785	WIZ_HUMAN	widely interspaced zinc finger motifs	816						nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						CAGCAGCAGAGGTGGCCAGCA	0.682000													9	44					0	0	0.00136819	0	0
EPHA6	285220	broad.mit.edu	37	3	96706780	96706780	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:96706780C>T	ENST00000389672.5	+	3	1095	c.1057C>T	c.(1057-1059)Cct>Tct	p.P353S	EPHA6_ENST00000542517.1_Missense_Mutation_p.P259S|EPHA6_ENST00000470610.2_Missense_Mutation_p.P353S	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	258	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity			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						TTGGCTGGTTCCTCTTGGAAG	0.413000													14	41					0	0	0.00400662	0	0
CD22	933	broad.mit.edu	37	19	35832865	35832865	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:35832865T>C	ENST00000085219.5	+	9	2098	c.2032T>C	c.(2032-2034)Tac>Cac	p.Y678H	CD22_ENST00000419549.2_Missense_Mutation_p.Y506H|CD22_ENST00000341773.6_Missense_Mutation_p.Y501H|CD22_ENST00000270311.6_Missense_Mutation_p.Y558H|CD22_ENST00000594250.1_Missense_Mutation_p.Y501H|CD22_ENST00000544992.2_Missense_Mutation_p.Y678H|CD22_ENST00000536635.2_Missense_Mutation_p.Y590H	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	678					cell adhesion		protein binding|sugar binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	CCTCACCGTCTACTGTAAGGC	0.567000													4	32					0	0	0.000602214	0	0
FRMD3	257019	broad.mit.edu	37	9	85913696	85913696	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:85913696G>A	ENST00000304195.3	-	12	1243	c.1037C>T	c.(1036-1038)tCc>tTc	p.S346F	FRMD3_ENST00000376438.1_Missense_Mutation_p.S346F|FRMD3_ENST00000376434.1_Missense_Mutation_p.S152F	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	346						cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						CTGGATCTTGGAACTGGCCTC	0.493000													12	22					0	0	0.00400662	0	0
TPTE2	93492	broad.mit.edu	37	13	20048070	20048070	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr13:20048070G>A	ENST00000400230.2	-	6	420	c.376C>T	c.(376-378)Cga>Tga	p.R126*	TPTE2_ENST00000382977.4_Nonsense_Mutation_p.R126*|TPTE2_ENST00000255310.6_Nonsense_Mutation_p.R89*|TPTE2_ENST00000457266.2_Intron|TPTE2_ENST00000382975.4_Nonsense_Mutation_p.R126*|TPTE2_ENST00000390680.2_Nonsense_Mutation_p.R89*|TPTE2_ENST00000382978.1_Nonsense_Mutation_p.R126*|TPTE2_ENST00000400103.2_Intron			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	126						endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R89G(1)|p.R126G(1)		NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		ACAAATACTCGAAGAAGAACA	0.358000													13	39					0	0	0.00316338	0	0
COL19A1	1310	broad.mit.edu	37	6	70890372	70890372	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:70890372G>A	ENST00000322773.4	+	44	2834	c.2732G>A	c.(2731-2733)gGa>gAa	p.G911E	COL19A1_ENST00000393344.1_Missense_Mutation_p.G533E	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	911	Triple-helical region 5 (COL5).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						GGACCTGTTGGAGATATAGGT	0.393000													5	29					0	0	0.000602214	0	0
RP1	6101	broad.mit.edu	37	8	55542526	55542526	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:55542526G>A	ENST00000220676.1	+	4	6232	c.6084G>A	c.(6082-6084)ttG>ttA	p.L2028L		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	2028					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)			AACCAGATTTGAAGGAAAGGT	0.338000													11	116					0	0	0.00185496	0	0
NCKAP5L	57701	broad.mit.edu	37	12	50186494	50186494	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:50186494G>A	ENST00000335999.6	-	11	3817	c.3616C>T	c.(3616-3618)Ccg>Tcg	p.P1206S		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	1202	Pro-rich.									central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						CGGTGGCCCGGAGCAGCGGGT	0.682000													5	8					0	0	0.00198382	0	0
SSH1	54434	broad.mit.edu	37	12	109181810	109181810	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:109181810G>A	ENST00000326495.5	-	15	3197	c.3104C>T	c.(3103-3105)cCc>cTc	p.P1035L	SSH1_ENST00000360239.3_Missense_Mutation_p.P723L	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	1035	Interaction with YWHAG.				actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TTCTGGGGCGGGTTTCCCTGA	0.552000													7	45					0	0	0.00307968	0	0
MUC16	94025	broad.mit.edu	37	19	9046028	9046028	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:9046028G>A	ENST00000397910.4	-	5	35806	c.35603C>T	c.(35602-35604)tCc>tTc	p.S11868F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11870	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						TAAACCAAGGGAAAGAGTTGA	0.502000													8	65					0	0	0.000274275	0	0
ZNF165	7718	broad.mit.edu	37	6	28056442	28056442	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:28056442G>A	ENST00000377325.1	+	4	1208	c.652G>A	c.(652-654)Gaa>Aaa	p.E218K		NM_003447.3	NP_003438.1	P49910	ZN165_HUMAN	zinc finger protein 165	218					viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ATACATATCAGAAGCATCTGG	0.408000													46	242					0	0	0.00361006	0	0
SLC44A4	80736	broad.mit.edu	37	6	31831496	31831496	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:31831496G>A	ENST00000544672.1	-	21	2109	c.1813C>T	c.(1813-1815)Ctg>Ttg	p.L605L	SLC44A4_ENST00000375562.4_Silent_p.L639L|SLC44A4_ENST00000229729.6_Silent_p.L681L	NM_001178045.1	NP_001171516.1	Q53GD3	CTL4_HUMAN	solute carrier family 44, member 4	681						integral to membrane|plasma membrane	choline transmembrane transporter activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	GGCCGGTCCAGGGAGCCGTTG	0.602000													6	57					0	0	0.000274275	0	0
CLRN2	645104	broad.mit.edu	37	4	17528483	17528483	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:17528483G>A	ENST00000511148.2	+	3	579	c.477G>A	c.(475-477)gtG>gtA	p.V159V		NM_001079827.2	NP_001073296.1	A0PK11	CLRN2_HUMAN	clarin 2	159						integral to membrane				breast(1)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|upper_aerodigestive_tract(1)	15						TGGCTGCGGTGAAATTTCACG	0.517000													7	51					0	0	0.00307968	0	0
PLIN5	440503	broad.mit.edu	37	19	4523637	4523637	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:4523637C>T	ENST00000381848.3	-	8	1375	c.1295G>A	c.(1294-1296)gGg>gAg	p.G432E		NM_001013706.2	NP_001013728.2	Q00G26	PLIN5_HUMAN	perilipin 5	432						lipid particle				endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10						CATCCTGTCCCCATCCCCATT	0.692000											OREG0025168	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	52					0	0	0.00316338	0	0
CELF4	56853	broad.mit.edu	37	18	35145400	35145400	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:35145400C>T	ENST00000420428.2	-	1	600	c.205G>A	c.(205-207)Gac>Aac	p.D69N	CELF4_ENST00000412753.1_Missense_Mutation_p.D69N|CELF4_ENST00000601019.1_Missense_Mutation_p.D69N|CELF4_ENST00000588597.1_Missense_Mutation_p.D69N|CELF4_ENST00000591287.1_Missense_Mutation_p.D69N|CELF4_ENST00000591282.1_Missense_Mutation_p.D69N|CELF4_ENST00000334919.5_Missense_Mutation_p.D69N|CELF4_ENST00000603232.1_Missense_Mutation_p.D69N|CELF4_ENST00000361795.5_Missense_Mutation_p.D69N	NM_020180.3	NP_064565.1	Q9BZC1	CELF4_HUMAN	CUGBP, Elav-like family member 4	69	RRM 1.|Sufficient for RNA-binding and MSE- dependent splicing activity.				embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						GGCTTGAGGTCCTTCTCATCC	0.542000													6	31					0	0	0.00116845	0	0
OR12D2	26529	broad.mit.edu	37	6	29364563	29364563	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:29364563C>T	ENST00000383555.2	+	1	148	c.87C>T	c.(85-87)ttC>ttT	p.F29F	OR5V1_ENST00000377154.1_Intron	NM_013936.3	NP_039224.2	P58182	O12D2_HUMAN	olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene)	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						TCGTGGTTTTCCTCACCATCT	0.448000													11	85					0	0	0.00136819	0	0
ANK1	286	broad.mit.edu	37	8	41518993	41518993	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:41518993C>T	ENST00000396942.1	-	42	5792	c.5709G>A	c.(5707-5709)ggG>ggA	p.G1903G	ANK1_ENST00000314214.8_Silent_p.G153G|ANK1_ENST00000522231.1_Intron|ANK1_ENST00000379758.2_Intron|ANK1_ENST00000522543.1_Intron|ANK1_ENST00000352337.4_Silent_p.G1856G|ANK1_ENST00000457297.1_Intron|ANK1_ENST00000265709.8_Intron|RP11-930P14.1_ENST00000585088.1_RNA|RP11-930P14.1_ENST00000520418.1_RNA|ANK1_ENST00000289734.7_Silent_p.G1878G|RP11-930P14.1_ENST00000522388.1_RNA|ANK1_ENST00000347528.4_Intron|ANK1_ENST00000396945.1_Intron			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	0					axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GTCACTGTTTCCCCCTTTTCA	0.627000													7	35					0	0	0.00198382	0	0
TSHR	7253	broad.mit.edu	37	14	81554364	81554364	+	Silent	SNP	A	A	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:81554364A>G	ENST00000541158.2	+	5	706	c.384A>G	c.(382-384)ctA>ctG	p.L128L	TSHR_ENST00000554263.1_Silent_p.L128L|TSHR_ENST00000298171.2_Silent_p.L128L|TSHR_ENST00000554435.1_Silent_p.L128L|TSHR_ENST00000342443.6_Silent_p.L128L			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	128					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	TCCCCCTCCTAAAGTTCCTGT	0.438000			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism						4	12					0	0	0.000602214	0	0
PRPS1L1	221823	broad.mit.edu	37	7	18067222	18067222	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:18067222C>T	ENST00000506618.2	-	1	264	c.184G>A	c.(184-186)Gaa>Aaa	p.E62K		NM_175886.2	NP_787082.1	P21108	PRPS3_HUMAN	phosphoribosyl pyrophosphate synthetase 1-like 1	62					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					TCGTTGATTTCGCCACAACCA	0.473000													38	287					0	0	0.00170553	0	0
TENM1	10178	broad.mit.edu	37	X	123779112	123779112	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:123779112C>T	ENST00000422452.2	-	10	1820	c.1757G>A	c.(1756-1758)gGg>gAg	p.G586E	TENM1_ENST00000371130.3_Missense_Mutation_p.G586E	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		ACACTCTGGCCCCTTCCAGCC	0.522000													19	84					0	0	0.00278032	0	0
NLRP9	338321	broad.mit.edu	37	19	56244618	56244618	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:56244618G>A	ENST00000332836.2	-	2	606	c.579C>T	c.(577-579)atC>atT	p.I193I		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	193	NACHT.					cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		TGGTCTCTGCGATACCGTTCA	0.458000													5	35					0	0	0.00198382	0	0
PPP2R3A	5523	broad.mit.edu	37	3	135721467	135721467	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:135721467C>T	ENST00000264977.3	+	2	1744	c.1127C>T	c.(1126-1128)tCc>tTc	p.S376F	PPP2R3A_ENST00000490467.1_Intron	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	376					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TCCACAAATTCCTTATATAAC	0.363000													14	18					0	0	0.00316338	0	0
GON4L	54856	broad.mit.edu	37	1	155723012	155723012	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:155723012C>G	ENST00000437809.1	-	29	5947	c.5825G>C	c.(5824-5826)gGa>gCa	p.G1942A	GON4L_ENST00000368331.1_Missense_Mutation_p.G1942A|GON4L_ENST00000271883.5_Missense_Mutation_p.G1942A			Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1942					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					AGGCATCTCTCCCTTTCTGGT	0.562000													5	28					0	0	0.00116845	0	0
MC3R	4159	broad.mit.edu	37	20	54824480	54824480	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:54824480C>T	ENST00000243911.2	+	1	693	c.581C>T	c.(580-582)aCc>aTc	p.T194I		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	231					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding	p.T231I(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			TGCCTCATCACCATGTTCTTC	0.582000													19	31					0	0	0.00278032	0	0
RABGGTA	5875	broad.mit.edu	37	14	24737609	24737609	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:24737609A>C	ENST00000399409.3	-	10	1507	c.1024T>G	c.(1024-1026)Tgc>Ggc	p.C342G	RABGGTA_ENST00000560777.1_Intron|RABGGTA_ENST00000216840.6_Missense_Mutation_p.C342G	NM_004581.5	NP_004572.3	Q92696	PGTA_HUMAN	Rab geranylgeranyltransferase, alpha subunit	342					visual perception		Rab geranylgeranyltransferase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	12				GBM - Glioblastoma multiforme(265;0.0184)		GAGTCCCGGCACCAGCCCTCC	0.617000													4	17					0	0	0.00116845	0	0
PLCH1	23007	broad.mit.edu	37	3	155198941	155198941	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:155198941G>A	ENST00000460012.1	-	23	5141	c.4784C>T	c.(4783-4785)tCc>tTc	p.S1595F	PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000414191.1_Missense_Mutation_p.S1595F|PLCH1_ENST00000340059.7_Missense_Mutation_p.S1633F|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000334686.6_Missense_Mutation_p.S1595F			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1633					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)			TGCGATGTAGGAGCCGGTGGA	0.582000													14	12					0	0	0.00316338	0	0
CSMD3	114788	broad.mit.edu	37	8	113326282	113326282	+	Splice_Site	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:113326282C>T	ENST00000297405.5	-	49	7794		c.e49-1		CSMD3_ENST00000343508.3_Splice_Site|CSMD3_ENST00000455883.2_Splice_Site|CSMD3_ENST00000352409.3_Splice_Site	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3							integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATATTTGGTCCTTTGGGAAGA	0.289000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			7	72					0	0	0.000274275	0	0
MALAT1	378938	broad.mit.edu	37	11	65272561	65272561	+	RNA	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:65272561C>T	ENST00000534336.1	+	0	7329					NR_002819.2																						GAATAGATTTCAGCTTTATGC	0.418000													11	54					0	0	0.00316338	0	0
SSX2IP	117178	broad.mit.edu	37	1	85116084	85116084	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:85116084G>A	ENST00000437941.2	-	12	1902	c.1550C>T	c.(1549-1551)tCa>tTa	p.S517L	SSX2IP_ENST00000342203.3_Missense_Mutation_p.S544L|SSX2IP_ENST00000603677.1_Missense_Mutation_p.S63L|SSX2IP_ENST00000605755.1_Missense_Mutation_p.S517L|SSX2IP_ENST00000370612.4_Missense_Mutation_p.S544L	NM_001166295.1|NM_001166417.1	NP_001159767.1|NP_001159889.1	Q9Y2D8	ADIP_HUMAN	synovial sarcoma, X breakpoint 2 interacting protein	544					cell adhesion	nucleus|protein complex				endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|urinary_tract(1)	19				all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		GCAAAAGTCTGAAGTGGAAGG	0.423000													27	102					0	0	0.000878237	0	0
MUC16	94025	broad.mit.edu	37	19	9049903	9049903	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:9049903C>T	ENST00000397910.4	-	5	31931	c.31728G>A	c.(31726-31728)ggG>ggA	p.G10576G		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10578	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						TTCTCTCTGCCCCAGAACGAG	0.502000													6	34					0	0	0.00116845	0	0
COL10A1	1300	broad.mit.edu	37	6	116446585	116446585	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:116446585C>T	ENST00000327673.4	-	1	478	c.71G>A	c.(70-72)cGa>cAa	p.R24Q	NT5DC1_ENST00000319550.4_Intron|COL10A1_ENST00000243222.4_Missense_Mutation_p.R24Q			Q03692	COAA1_HUMAN	collagen, type X, alpha 1	24	Nonhelical region (NC2).				skeletal system development	collagen	metal ion binding			central_nervous_system(1)|endometrium(2)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	13		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)		all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711)		CATTTGGTATCGTTCAGCGTA	0.398000													26	55					0	0	0.000878237	0	0
ATP10B	23120	broad.mit.edu	37	5	160029662	160029662	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:160029662C>T	ENST00000327245.5	-	21	4131	c.3285G>A	c.(3283-3285)aaG>aaA	p.K1095K		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	1095					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCAGCAACTTCTTGAGATGCT	0.552000													4	10					0	0	0.00024832	0	0
SNRPB2	6629	broad.mit.edu	37	20	16712355	16712355	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:16712355T>G	ENST00000246071.6	+	2	224	c.8T>G	c.(7-9)aTc>aGc	p.I3S	SNRPB2_ENST00000377943.5_Missense_Mutation_p.I3S|SNRPB2_ENST00000478522.1_3'UTR	NM_003092.4	NP_003083.1	P08579	RU2B_HUMAN	small nuclear ribonucleoprotein polypeptide B	3						catalytic step 2 spliceosome|nucleoplasm|U2 snRNP	nucleotide binding|protein binding|RNA binding			large_intestine(2)|lung(2)|urinary_tract(1)	5						AACATGGATATCAGACCAAAT	0.294000													23	147					0	0	0.000720815	0	0
AE000661.37	0	broad.mit.edu	37	14	22932783	22932783	+	RNA	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:22932783G>A	ENST00000514473.2	-	0	225				AE000661.37_ENST00000556777.1_RNA|TRDC_ENST00000390477.2_RNA																							AAAACCAAAGGAAACTGAAAA	0.418000													4	7					0	0	0.000602214	0	0
LMX1A	4009	broad.mit.edu	37	1	165218718	165218718	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:165218718C>T	ENST00000342310.3	-	4	805	c.423G>A	c.(421-423)caG>caA	p.Q141Q	LMX1A_ENST00000367893.4_Silent_p.Q141Q|LMX1A_ENST00000294816.2_Silent_p.Q141Q	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	141	LIM zinc-binding 2.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					TGCAGAGCAGCTGCCCCTCCT	0.607000													5	50					0	0	0.000602214	0	0
RORB	6096	broad.mit.edu	37	9	77280476	77280476	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:77280476G>T	ENST00000376896.2	+	7	1577	c.965G>T	c.(964-966)gGa>gTa	p.G322V	RORB_ENST00000396204.2_Missense_Mutation_p.G333V	NM_006914.3	NP_008845.2	Q92753	RORB_HUMAN	RAR-related orphan receptor B	333	Ligand-binding (Potential).				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						CTGTTTGAAGGAAAATATGGA	0.353000													24	57					7.07758e-08	2.05883e-07	0.000720815	1	0
KIF6	221458	broad.mit.edu	37	6	39682520	39682520	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:39682520C>T	ENST00000287152.7	-	3	293	c.199G>A	c.(199-201)Gat>Aat	p.D67N	KIF6_ENST00000373215.3_Missense_Mutation_p.D67N|KIF6_ENST00000373216.3_Missense_Mutation_p.D67N|KIF6_ENST00000465719.1_5'UTR|KIF6_ENST00000538893.1_Missense_Mutation_p.D67N	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	67	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TGGTTTGCATCCTGATCAAAA	0.353000													5	47					0	0	0.00116845	0	0
ANGPT4	51378	broad.mit.edu	37	20	858955	858955	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:858955C>T	ENST00000381922.3	-	7	1171	c.1069G>A	c.(1069-1071)Gct>Act	p.A357T	ANGPT4_ENST00000546022.1_Missense_Mutation_p.A357T	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	357	Fibrinogen C-terminal.				anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						TGCTCCCCAGCTGGGTCTCCG	0.647000													4	17					0	0	0.00024832	0	0
ALS2CR11	151254	broad.mit.edu	37	2	202483828	202483828	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:202483828C>T	ENST00000439140.1	-	1	70	c.26G>A	c.(25-27)aGg>aAg	p.R9K	ALS2CR11_ENST00000450242.1_Missense_Mutation_p.R9K|ALS2CR11_ENST00000439802.1_Missense_Mutation_p.R9K|ALS2CR11_ENST00000286195.3_Missense_Mutation_p.R9K	NM_001168221.1	NP_001161693.1	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11	9										NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						GCTGAAAGGCCTATTTGTCTC	0.627000													9	45					0	0	0.000442599	0	0
TRRAP	8295	broad.mit.edu	37	7	98591302	98591302	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:98591302C>T	ENST00000359863.4	+	65	10156	c.9947C>T	c.(9946-9948)tCt>tTt	p.S3316F	TRRAP_ENST00000355540.3_Missense_Mutation_p.S3287F|TRRAP_ENST00000446306.3_Missense_Mutation_p.S3305F	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3316					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			ACCCTTCTGTCTTCCCTGGAA	0.537000													11	50					0	0	0.000978159	0	0
LMF2	91289	broad.mit.edu	37	22	50942286	50942286	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr22:50942286G>A	ENST00000216080.5	-	13	1859	c.1691C>T	c.(1690-1692)tCc>tTc	p.S564F	LMF2_ENST00000380796.3_Missense_Mutation_p.S476F|LMF2_ENST00000474879.2_Missense_Mutation_p.S589F			Q9BU23	LMF2_HUMAN	lipase maturation factor 2	589						endoplasmic reticulum membrane|integral to membrane				breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GTCCCCCAGGGACACGGATGG	0.672000													13	9					0	0	0.00316338	0	0
BAALC	79870	broad.mit.edu	37	8	104240216	104240216	+	Splice_Site	SNP	G	G	A	rs117445972	by1000genomes	TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:104240216G>A	ENST00000309982.5	+	3	515		c.e3-1		RP11-318M2.2_ENST00000523614.2_RNA|BAALC_ENST00000523754.1_Splice_Site|RP11-318M2.2_ENST00000499522.2_RNA|BAALC_ENST00000438105.2_Splice_Site|BAALC_ENST00000297574.6_Splice_Site	NM_024812.2	NP_079088.1	Q8WXS3	BAALC_HUMAN	brain and acute leukemia, cytoplasmic							centrosome|membrane|nucleus				kidney(1)|large_intestine(3)|lung(3)	7			OV - Ovarian serous cystadenocarcinoma(57;3.49e-05)|STAD - Stomach adenocarcinoma(118;0.133)			CAACTTAACAGGCTAAAAGAG	0.368000													11	50					0	0	0.000978159	0	0
DLG4	1742	broad.mit.edu	37	17	7095233	7095233	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:7095233G>A	ENST00000399510.2	-	20	2936	c.2084C>T	c.(2083-2085)cCc>cTc	p.P695L	DLG4_ENST00000399506.2_Missense_Mutation_p.P652L|DLG4_ENST00000302955.6_Missense_Mutation_p.P649L	NM_001365.3	NP_001356.1	P78352	DLG4_HUMAN	discs, large homolog 4 (Drosophila)	652	Guanylate kinase-like.				axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein binding|protein C-terminus binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18						CAGGGAGCGGGGGCGGATGAA	0.672000													11	46					0	0	0.00185496	0	0
TECTA	7007	broad.mit.edu	37	11	121032793	121032793	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:121032793C>T	ENST00000392793.1	+	16	5257	c.4986C>T	c.(4984-4986)gcC>gcT	p.A1662A	TECTA_ENST00000264037.2_Silent_p.A1662A			O75443	TECTA_HUMAN	tectorin alpha	1662	VWFD 4.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GACCTCTTGCCCCCAGCTGCA	0.507000													30	36					0	0	0.00375469	0	0
ISPD	729920	broad.mit.edu	37	7	16255735	16255735	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:16255735C>T	ENST00000407010.2	-	9	1206	c.1207G>A	c.(1207-1209)Gaa>Aaa	p.E403K	AC004741.3_ENST00000438573.1_RNA|AC004741.3_ENST00000579293.1_RNA|AC004741.3_ENST00000582683.1_RNA|AC004741.3_ENST00000457112.1_RNA|ISPD_ENST00000399310.3_Missense_Mutation_p.E353K	NM_001101426.3	NP_001094896.1	A4D126	ISPD_HUMAN	isoprenoid synthase domain containing	403					isoprenoid biosynthetic process		nucleotidyltransferase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9						ATATTTCTTTCTTTTACTTCC	0.313000										Multiple Myeloma(15;0.18)			13	94					0	0	0.00244969	0	0
NR3C2	4306	broad.mit.edu	37	4	149356895	149356895	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:149356895G>A	ENST00000355292.3	-	2	1480	c.1118C>T	c.(1117-1119)cCt>cTt	p.P373L	NR3C2_ENST00000512865.1_Missense_Mutation_p.P373L|NR3C2_ENST00000358102.3_Missense_Mutation_p.P373L|NR3C2_ENST00000511528.1_Missense_Mutation_p.P373L|NR3C2_ENST00000344721.4_Missense_Mutation_p.P373L|NR3C2_ENST00000342437.4_Missense_Mutation_p.P373L			P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	373	Modulating.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	CTTAGGAAAAGGGACCTCTTG	0.498000													22	19					0	0	0.000720815	0	0
C7orf31	136895	broad.mit.edu	37	7	25176356	25176356	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:25176356G>A	ENST00000409280.1	-	10	1316	c.1008C>T	c.(1006-1008)gcC>gcT	p.A336A	C7orf31_ENST00000283905.3_Silent_p.A336A			Q8N865	CG031_HUMAN	chromosome 7 open reading frame 31	336										autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						GAATTAATCGGGCAATTCGTC	0.428000													22	168					0	0	0.00395357	0	0
NIN	51199	broad.mit.edu	37	14	51259445	51259445	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:51259445G>A	ENST00000245441.5	-	5	610	c.420C>T	c.(418-420)gcC>gcT	p.A140A	NIN_ENST00000530997.2_Silent_p.A140A|NIN_ENST00000486200.1_5'UTR|NIN_ENST00000324330.9_Silent_p.A140A|NIN_ENST00000382043.4_Silent_p.A140A|NIN_ENST00000389868.3_Silent_p.A140A|NIN_ENST00000382041.3_Silent_p.A140A|NIN_ENST00000453196.1_Silent_p.A140A	NM_020921.3	NP_065972.3	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	140					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)					TGCAGTCACCGGCTGGGATGT	0.582000			T	PDGFRB	MPD								12	28					0	0	0.00244969	0	0
TTN	7273	broad.mit.edu	37	2	179411776	179411776	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:179411776G>T	ENST00000589042.1	-	340	94700	c.94476C>A	c.(94474-94476)agC>agA	p.S31492R	TTN_ENST00000342175.6_Missense_Mutation_p.S22619R|TTN_ENST00000460472.2_Missense_Mutation_p.S22427R|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S28924R|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S29851R|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S22552R|TTN-AS1_ENST00000592750.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	29851	Ig-like 140.						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)			CGCTGGCCTTGCTAACACCTG	0.383000													45	94					1.51926e-22	4.44904e-22	0.00361006	1	0
KCND2	3751	broad.mit.edu	37	7	120373106	120373106	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:120373106G>A	ENST00000331113.4	+	2	2230	c.1265G>A	c.(1264-1266)cGa>cAa	p.R422Q		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	422					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					GCAGACAAACGAAGGGCACAA	0.438000													6	24					0	0	0.00198382	0	0
ZNF283	284349	broad.mit.edu	37	19	44351947	44351947	+	Silent	SNP	T	T	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:44351947T>C	ENST00000324461.7	+	7	1491	c.1194T>C	c.(1192-1194)acT>acC	p.T398T	ZNF283_ENST00000588797.1_Silent_p.T259T	NM_181845.1	NP_862828.1	Q8N7M2	ZN283_HUMAN	zinc finger protein 283	398					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(4)	8		Prostate(69;0.0352)				TATTTCATACTGGTGAGAAAC	0.363000													22	124					0	0	0.00332997	0	0
ABCA13	154664	broad.mit.edu	37	7	48427452	48427452	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:48427452C>T	ENST00000435803.1	+	36	11393	c.11369C>T	c.(11368-11370)cCc>cTc	p.P3790L		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3790					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TGGTATTTCCCCTTTACTGCC	0.318000													5	38					0	0	0.000602214	0	0
PLCXD3	345557	broad.mit.edu	37	5	41382367	41382367	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:41382367G>A	ENST00000377801.3	-	2	447	c.373C>T	c.(373-375)Ctt>Ttt	p.L125F	PLCXD3_ENST00000328457.3_Missense_Mutation_p.L125F			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	125	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						ATCTCCTCAAGGCCTTCATTG	0.413000													16	21					0	0	0.00074312	0	0
SLC26A9	115019	broad.mit.edu	37	1	205897158	205897158	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:205897158G>A	ENST00000367135.3	-	9	1086	c.973C>T	c.(973-975)Cct>Tct	p.P325S	SLC26A9_ENST00000367134.2_Missense_Mutation_p.P325S|SLC26A9_ENST00000340781.4_Missense_Mutation_p.P325S	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	325						integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			GAGACCACAGGCGACACCGGG	0.622000													6	21					0	0	0.00116845	0	0
NLRP5	126206	broad.mit.edu	37	19	56549468	56549468	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:56549468C>T	ENST00000390649.3	+	10	2693	c.2693C>T	c.(2692-2694)tCt>tTt	p.S898F		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	898						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		AGCCTGAAATCTCTGAGCCTG	0.547000													9	35					0	0	0.000442599	0	0
TTC12	54970	broad.mit.edu	37	11	113210175	113210175	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:113210175C>T	ENST00000393020.1	+	10	1210	c.805C>T	c.(805-807)Ctg>Ttg	p.L269L	TTC12_ENST00000483239.2_Silent_p.L275L|TTC12_ENST00000314756.3_Silent_p.L269L|TTC12_ENST00000529221.1_Silent_p.L269L			Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	269							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		GATTGAGATCCTGACTGAAAT	0.502000													18	52					0	0	0.00229938	0	0
SLC39A10	57181	broad.mit.edu	37	2	196545140	196545140	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:196545140C>T	ENST00000409086.3	+	2	649	c.374C>T	c.(373-375)tCa>tTa	p.S125L	SLC39A10_ENST00000541054.1_Intron|SLC39A10_ENST00000359634.5_Missense_Mutation_p.S125L	NM_001127257.1	NP_001120729.1	Q9ULF5	S39AA_HUMAN	solute carrier family 39 (zinc transporter), member 10	125	His-rich.				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34			OV - Ovarian serous cystadenocarcinoma(117;0.221)			CATTTTCACTCACATAACCAC	0.368000													34	61					0	0	0.00327116	0	0
CRNN	49860	broad.mit.edu	37	1	152382913	152382913	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:152382913C>T	ENST00000271835.3	-	3	707	c.645G>A	c.(643-645)agG>agA	p.R215R	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	215	Gln-rich.				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTCCTGTTCCCTGGTCTGTG	0.572000													19	128					0	0	0.00152264	0	0
VPS41	27072	broad.mit.edu	37	7	38791813	38791813	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:38791813G>A	ENST00000310301.4	-	22	1943	c.1889C>T	c.(1888-1890)cCc>cTc	p.P630L	VPS41_ENST00000395969.2_Missense_Mutation_p.P605L	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	630					Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						TCGGAGAAAGGGAAGTAAGTT	0.433000													13	99					0	0	0.00136819	0	0
PIK3C2A	5286	broad.mit.edu	37	11	17135970	17135970	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:17135970G>A	ENST00000265970.7	-	19	3258	c.3259C>T	c.(3259-3261)Cag>Tag	p.Q1087*	PIK3C2A_ENST00000531428.1_Intron|PIK3C2A_ENST00000540361.1_Nonsense_Mutation_p.Q707*	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	1087					cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	TTATTTTTCTGAAAAAAGGAC	0.318000													47	78					0	0	0.00361006	0	0
ARHGAP27	201176	broad.mit.edu	37	17	43473413	43473413	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:43473413G>A	ENST00000532038.1	-	14	1791	c.1656C>T	c.(1654-1656)ttC>ttT	p.F552F	ARHGAP27_ENST00000442348.1_Silent_p.F747F|ARHGAP27_ENST00000528384.1_Silent_p.F406F|ARHGAP27_ENST00000376922.2_Silent_p.F433F|ARHGAP27_ENST00000455881.1_Silent_p.F433F|ARHGAP27_ENST00000428638.1_Silent_p.F774F|ARHGAP27_ENST00000532891.2_Silent_p.F752F			Q6ZUM4	RHG27_HUMAN	Rho GTPase activating protein 27	774	PH.				positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction	cytoplasm|membrane	Rac GTPase activator activity|SH3 domain binding			endometrium(4)|large_intestine(9)|lung(3)|skin(1)	17	Renal(3;0.0405)					GCTCCCGAAAGAAGAGCTTCA	0.647000													11	16					0	0	0.000978159	0	0
KLK4	9622	broad.mit.edu	37	19	51412047	51412047	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:51412047G>A	ENST00000324041.1	-	3	262	c.263C>T	c.(262-264)gCc>gTc	p.A88V	KLK4_ENST00000431178.2_Missense_Mutation_p.A39V	NM_004917.3	NP_004908.3	Q9Y5K2	KLK4_HUMAN	kallikrein-related peptidase 4	88	Peptidase S1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)		CTCTTGGTCGGCCTCAAGACT	0.587000													13	22					0	0	0.00316338	0	0
CORIN	10699	broad.mit.edu	37	4	47765520	47765520	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:47765520T>A	ENST00000273857.4	-	4	492	c.493A>T	c.(493-495)Aac>Tac	p.N165Y	CORIN_ENST00000508498.1_Missense_Mutation_p.N26Y|CORIN_ENST00000502252.1_Missense_Mutation_p.N98Y|CORIN_ENST00000504584.1_Missense_Mutation_p.N165Y|CORIN_ENST00000505909.1_Missense_Mutation_p.N165Y	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	165	FZ 1.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						ATTTCCATGTTTCTGACAACT	0.488000													23	74					0	0	0.000720815	0	0
MAN1C1	57134	broad.mit.edu	37	1	26104700	26104700	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:26104700C>T	ENST00000374332.4	+	9	1692	c.1362C>T	c.(1360-1362)ttC>ttT	p.F454F	MAN1C1_ENST00000263979.3_Silent_p.F274F|MAN1C1_ENST00000374329.1_Silent_p.F225F	NM_020379.2	NP_065112.1	Q9NR34	MA1C1_HUMAN	mannosidase, alpha, class 1C, member 1	454					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		TGGCCTGTTTCTCCGGGGGCA	0.607000													13	17					0	0	0.00400662	0	0
XIRP2	129446	broad.mit.edu	37	2	168107021	168107021	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:168107021G>A	ENST00000409195.1	+	9	9208	c.9119G>A	c.(9118-9120)gGa>gAa	p.G3040E	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.G2818E|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.G3040E|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2865					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TCCAAAACAGGAAAACCGGGA	0.318000													9	67					0	0	0.000442599	0	0
ZNF676	163223	broad.mit.edu	37	19	22363787	22363787	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:22363787C>T	ENST00000397121.2	-	3	1049	c.732G>A	c.(730-732)aaG>aaA	p.K244K		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	244					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TATGAATTATCTTATGTTTAG	0.363000													8	31					0	0	0.00307968	0	0
CACNA1G	8913	broad.mit.edu	37	17	48683300	48683300	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:48683300C>T	ENST00000352832.5	+	22	4641	c.4269C>T	c.(4267-4269)acC>acT	p.T1423T	CACNA1G_ENST00000507336.1_Silent_p.T1446T|CACNA1G_ENST00000360761.4_Silent_p.T1423T|CACNA1G_ENST00000513689.2_Silent_p.T1446T|CACNA1G_ENST00000513964.1_Silent_p.T1446T|CACNA1G_ENST00000354983.4_Silent_p.T1423T|CACNA1G_ENST00000515765.1_Silent_p.T1446T|CACNA1G_ENST00000510366.1_Silent_p.T1446T|CACNA1G_ENST00000515411.1_Silent_p.T1446T|CACNA1G_ENST00000510115.1_Silent_p.T1423T|CACNA1G_ENST00000503485.1_Silent_p.T1446T|CACNA1G_ENST00000515165.1_Silent_p.T1446T|CACNA1G_ENST00000512389.1_Silent_p.T1446T|CACNA1G_ENST00000507896.1_Silent_p.T1446T|CACNA1G_ENST00000514181.1_Silent_p.T1446T|CACNA1G_ENST00000502264.1_Silent_p.T1423T|CACNA1G_ENST00000358244.5_Silent_p.T1423T|CACNA1G_ENST00000442258.2_Silent_p.T1423T|CACNA1G_ENST00000514717.1_Silent_p.T1423T|CACNA1G_ENST00000359106.5_Silent_p.T1446T|CACNA1G_ENST00000507510.2_Silent_p.T1446T|CACNA1G_ENST00000416767.4_Silent_p.T1446T|CACNA1G_ENST00000507609.1_Silent_p.T1446T|CACNA1G_ENST00000429973.2_Silent_p.T1446T|CACNA1G_ENST00000505165.1_Silent_p.T1446T|CACNA1G_ENST00000514079.1_Silent_p.T1446T	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	1446					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			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)	GCGAGGATACCAGGAACATCA	0.547000													6	36					0	0	0.00198382	0	0
AP2A2	161	broad.mit.edu	37	11	988673	988673	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:988673C>T	ENST00000448903.2	+	10	1394	c.1253C>T	c.(1252-1254)tCc>tTc	p.S418F	AP2A2_ENST00000534328.1_Intron|AP2A2_ENST00000332231.5_Missense_Mutation_p.S419F	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2 subunit	418					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	lipid binding|protein transporter activity	p.S419C(1)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		GCTGACTACTCCATCCGAGAA	0.602000													9	43					0	0	0.000978159	0	0
KRT71	112802	broad.mit.edu	37	12	52944023	52944023	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:52944023C>T	ENST00000267119.5	-	2	515	c.446G>A	c.(445-447)cGg>cAg	p.R149Q		NM_033448.2	NP_258259.1	Q3SY84	K2C71_HUMAN	keratin 71	149	Coil 1A.|Rod.						structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		CTCCAGGAACCGCACCTGGAA	0.532000													6	27					0	0	0.00307968	0	0
KCNG4	93107	broad.mit.edu	37	16	84270731	84270731	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:84270731C>T	ENST00000568181.1	-	2	481	c.361G>A	c.(361-363)Ggg>Agg	p.G121R	KCNG4_ENST00000308251.4_Missense_Mutation_p.G121R			Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	121						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						ACGATCACCCCGAAGGCGCTG	0.622000													8	9					0	0	0.00307968	0	0
SCN5A	6331	broad.mit.edu	37	3	38622577	38622577	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:38622577C>T	ENST00000413689.1	-	17	3266	c.3073G>A	c.(3073-3075)Gaa>Aaa	p.E1025K	SCN5A_ENST00000333535.4_Missense_Mutation_p.E1025K|SCN5A_ENST00000414099.2_Missense_Mutation_p.E1025K|SCN5A_ENST00000450102.2_Missense_Mutation_p.E1025K|SCN5A_ENST00000449557.2_Missense_Mutation_p.E1025K|SCN5A_ENST00000443581.1_Missense_Mutation_p.E1025K|SCN5A_ENST00000425664.1_Missense_Mutation_p.E1025K|SCN5A_ENST00000451551.2_Missense_Mutation_p.E1025K|SCN5A_ENST00000455624.2_Missense_Mutation_p.E1025K|SCN5A_ENST00000423572.2_Missense_Mutation_p.E1025K	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1025					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	AACCGTGTTTCCTTGCGGGTG	0.682000													5	11					0	0	0.00198382	0	0
KAT6A	7994	broad.mit.edu	37	8	41906403	41906403	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:41906403C>T	ENST00000396930.3	-	3	636	c.93G>A	c.(91-93)agG>agA	p.R31R	KAT6A_ENST00000485568.1_Silent_p.R31R|KAT6A_ENST00000265713.2_Silent_p.R31R|KAT6A_ENST00000406337.1_Silent_p.R31R	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN	K(lysine) acetyltransferase 6A	31	Required for activation of RUNX1-1.				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding										CATTGCATATCCTTTCTTCTG	0.393000													123	119					0	0	0.00361006	0	0
MFNG	4242	broad.mit.edu	37	22	37876305	37876305	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr22:37876305C>T	ENST00000356998.3	-	3	560	c.337G>A	c.(337-339)Gaa>Aaa	p.E113K	MFNG_ENST00000416983.3_Missense_Mutation_p.E99K	NM_002405.3	NP_002396.2	O00587	MFNG_HUMAN	MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	113					pattern specification process	extracellular space|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity			large_intestine(2)|lung(2)|skin(1)	5	Melanoma(58;0.0574)					TGGCTGTGTTCCGCGGAGCAG	0.597000													6	28					0	0	0.00116845	0	0
FUT9	10690	broad.mit.edu	37	6	96651129	96651129	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:96651129C>T	ENST00000302103.5	+	3	424	c.98C>T	c.(97-99)aCc>aTc	p.T33I		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	33					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		ATCAAACCTACCAACAGCTGG	0.368000													5	20					0	0	0.000602214	0	0
PIK3R1	5295	broad.mit.edu	37	5	67592093	67592093	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:67592093C>T	ENST00000521381.1	+	15	2525	c.1909C>T	c.(1909-1911)Ctg>Ttg	p.L637L	PIK3R1_ENST00000274335.5_Silent_p.L637L|PIK3R1_ENST00000336483.5_Silent_p.L367L|PIK3R1_ENST00000521657.1_Silent_p.L637L|PIK3R1_ENST00000523872.1_Silent_p.L274L|PIK3R1_ENST00000320694.8_Silent_p.L337L|PIK3R1_ENST00000396611.1_Silent_p.L645L	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	637	SH2 2.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	AGCTGAAAACCTGTTGCGAGG	0.473000			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)			19	72					0	0	0.000958276	0	0
PRDM15	63977	broad.mit.edu	37	21	43242388	43242388	+	Silent	SNP	G	G	A	rs139162933	byFrequency	TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr21:43242388G>A	ENST00000422911.1	-	16	2039	c.1938C>T	c.(1936-1938)atC>atT	p.I646I	PRDM15_ENST00000538201.1_Silent_p.I609I|PRDM15_ENST00000269844.3_Silent_p.I955I|PRDM15_ENST00000398548.1_Silent_p.I626I|PRDM15_ENST00000447207.2_Silent_p.I589I			P57071	PRD15_HUMAN	PR domain containing 15	955					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						CCATCAACGCGATGTCCTGGA	0.527000													8	33					0	0	0.000673444	0	0
CD1D	912	broad.mit.edu	37	1	158152800	158152800	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:158152800G>A	ENST00000368171.3	+	5	1239	c.740G>A	c.(739-741)gGc>gAc	p.G247D		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	247	Ig-like.				antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					GAGCAGCAGGGCACTCAGCCA	0.622000													7	51					0	0	0.00307968	0	0
USF1	7391	broad.mit.edu	37	1	161010423	161010423	+	Silent	SNP	G	G	A	rs138288820		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:161010423G>A	ENST00000368021.3	-	9	861	c.657C>T	c.(655-657)atC>atT	p.I219I	USF1_ENST00000368020.1_Silent_p.I219I|USF1_ENST00000368019.1_Silent_p.I191I|USF1_ENST00000435396.1_Silent_p.I160I	NM_007122.3	NP_009053.1	P22415	USF1_HUMAN	upstream transcription factor 1	219	Helix-loop-helix motif.				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)			AGAGCTGCACGATCCAGTTGT	0.542000													9	43					0	0	0.000442599	0	0
BCAT1	586	broad.mit.edu	37	12	25031487	25031487	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:25031487G>A	ENST00000261192.7	-	5	1013	c.487C>T	c.(487-489)Cgt>Tgt	p.R163C	BCAT1_ENST00000539282.1_Missense_Mutation_p.R175C|BCAT1_ENST00000538118.1_Missense_Mutation_p.R162C|BCAT1_ENST00000544418.1_5'UTR|BCAT1_ENST00000342945.5_Missense_Mutation_p.R102C|BCAT1_ENST00000539780.1_Missense_Mutation_p.R126C	NM_001178091.1|NM_005504.6	NP_001171562.1|NP_005495.2	P54687	BCAT1_HUMAN	branched chain amino-acid transaminase 1, cytosolic	163					branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation|G1/S transition of mitotic cell cycle	cytosol	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			breast(1)|large_intestine(1)|lung(3)|prostate(2)	7	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)				Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114)	AATGTAGGACGAATATACAGA	0.373000													11	35					0	0	0.00185496	0	0
CLVS1	157807	broad.mit.edu	37	8	62289182	62289182	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:62289182C>T	ENST00000519846.1	+	4	946	c.474C>T	c.(472-474)atC>atT	p.I158I	CLVS1_ENST00000518592.1_5'UTR|CLVS1_ENST00000325897.4_Silent_p.I158I			Q8IUQ0	CLVS1_HUMAN	clavesin 1	158	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						TCACAGACATCCTTCGTGCCA	0.468000													9	87					0	0	0.000673444	0	0
GATA4	2626	broad.mit.edu	37	8	11612578	11612578	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:11612578G>A	ENST00000335135.4	+	5	1491	c.933G>A	c.(931-933)cgG>cgA	p.R311R	GATA4_ENST00000528712.1_Silent_p.R105R|GATA4_ENST00000532059.1_Silent_p.R312R	NM_002052.3	NP_002043.2	P43694	GATA4_HUMAN	GATA binding protein 4	311					atrial septum primum morphogenesis|atrial septum secundum morphogenesis|blood coagulation|cardiac right ventricle morphogenesis|cell-cell signaling|embryonic foregut morphogenesis|embryonic heart tube anterior/posterior pattern formation|endocardial cushion development|endoderm development|heart looping|intestinal epithelial cell differentiation|male gonad development|positive regulation of angiogenesis|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|response to drug|transcription from RNA polymerase II promoter|ventricular septum development	nucleoplasm	activating transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(10)	13	all_epithelial(15;0.0839)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.199)		TTGCAATGCGGAAAGAGGGGA	0.458000													6	42					0	0	0.00307968	0	0
EMR3	84658	broad.mit.edu	37	19	14749089	14749089	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:14749089G>A	ENST00000253673.5	-	11	1412	c.1312C>T	c.(1312-1314)Ctg>Ttg	p.L438L	EMR3_ENST00000344373.4_Silent_p.L386L|EMR3_ENST00000599900.1_Silent_p.L223L|EMR3_ENST00000443157.2_Silent_p.L312L	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	438					neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						CCCTCCAGCAGCATCCAGGTG	0.557000													5	20					0	0	0.000602214	0	0
RAPGEF2	9693	broad.mit.edu	37	4	160253705	160253705	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:160253705C>T	ENST00000264431.4	+	11	1927	c.1508C>T	c.(1507-1509)cCa>cTa	p.P503L		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	503					cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		TACTCCATTCCAGATCTTGCT	0.393000													9	32					0	0	0.000442599	0	0
HNRNPCL1	343069	broad.mit.edu	37	1	12907783	12907783	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:12907783A>T	ENST00000317869.6	-	2	585	c.360T>A	c.(358-360)taT>taA	p.Y120*		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1			heterogeneous nuclear ribonucleoprotein C-like 1											NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						ACATTCCATCATAATAATCCC	0.502000													6	18					0	0	0.00116845	0	0
ZNF701	55762	broad.mit.edu	37	19	53085911	53085911	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:53085911C>T	ENST00000540331.1	+	5	1022	c.797C>T	c.(796-798)tCa>tTa	p.S266L	ZNF701_ENST00000391785.3_Missense_Mutation_p.S200L|CTD-3099C6.7_ENST00000599222.1_RNA|ZNF701_ENST00000301093.2_Missense_Mutation_p.S266L	NM_001172655.1	NP_001166126.1	Q9NV72	ZN701_HUMAN	zinc finger protein 701	200					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		CTCCAGTCTTCATTACTCACA	0.373000													11	59					0	0	0.00136819	0	0
KEL	3792	broad.mit.edu	37	7	142650990	142650990	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:142650990C>T	ENST00000355265.2	-	9	1452	c.978G>A	c.(976-978)ccG>ccA	p.P326P	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	326					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					TCAGGGACATCGGTGTGAATG	0.522000													51	16					0	0	0.00361006	0	0
KRT33A	3883	broad.mit.edu	37	17	39502485	39502485	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:39502485G>A	ENST00000007735.3	-	7	1145	c.1101C>T	c.(1099-1101)ctC>ctT	p.L367L		NM_004138.3	NP_004129.2	O76009	KT33A_HUMAN	keratin 33A	367	Tail.					intermediate filament	protein binding|structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				GGTTGGAGGGGAGCCTGTGGG	0.488000													10	72					0	0	0.000673444	0	0
CKMT2	1160	broad.mit.edu	37	5	80553664	80553664	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:80553664G>A	ENST00000424301.2	+	8	1106	c.868G>A	c.(868-870)Gga>Aga	p.G290R	CTC-281B15.1_ENST00000511495.1_RNA|CKMT2_ENST00000437669.1_Missense_Mutation_p.G290R|CTC-281B15.1_ENST00000502041.2_RNA|CTC-281B15.1_ENST00000505295.1_RNA|CTC-281B15.1_ENST00000512287.1_RNA|CTC-281B15.1_ENST00000501927.2_RNA|CTC-281B15.1_ENST00000503483.2_RNA|CKMT2_ENST00000254035.4_Missense_Mutation_p.G290R|CTC-281B15.1_ENST00000500148.2_RNA	NM_001825.2	NP_001816.2	P17540	KCRS_HUMAN	creatine kinase, mitochondrial 2 (sarcomeric)	290	Phosphagen kinase C-terminal.				creatine metabolic process|muscle contraction	mitochondrial inner membrane	ATP binding|creatine kinase activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(4)|urinary_tract(1)	17		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	Creatine(DB00148)	ATTCTGTCGTGGACTAAAAGA	0.343000													4	28					0	0	0.000602214	0	0
BTN3A3	10384	broad.mit.edu	37	6	26452256	26452256	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:26452256C>T	ENST00000244519.2	+	11	1615	c.1372C>T	c.(1372-1374)Cct>Tct	p.P458S	BTN3A3_ENST00000361232.3_Missense_Mutation_p.P409S|BTN3A3_ENST00000339789.4_Missense_Mutation_p.P416S	NM_006994.4	NP_008925.1	O00478	BT3A3_HUMAN	butyrophilin, subfamily 3, member A3	458	B30.2/SPRY.					integral to membrane				cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						TCCTGAGCCTCCTAGGAAAGT	0.498000													9	55					0	0	0.000673444	0	0
TG	7038	broad.mit.edu	37	8	133894855	133894855	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:133894855G>A	ENST00000220616.4	+	7	927	c.887G>A	c.(886-888)cGa>cAa	p.R296Q	TG_ENST00000377869.1_Missense_Mutation_p.R296Q	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	296	Thyroglobulin type-1 3.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GGCAGATTCCGATGTAAGTAA	0.512000													8	44					0	0	0.00307968	0	0
LAMA3	3909	broad.mit.edu	37	18	21495344	21495344	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:21495344A>T	ENST00000313654.9	+	59	7977	c.7736A>T	c.(7735-7737)aAa>aTa	p.K2579I	LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000269217.6_Missense_Mutation_p.K970I|LAMA3_ENST00000399516.3_Missense_Mutation_p.K2523I|LAMA3_ENST00000587184.1_Missense_Mutation_p.K914I	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2579	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)	AACTTCAAAAAAACATTCAAT	0.368000													13	90					0	0	0.00244969	0	0
DDAH2	23564	broad.mit.edu	37	6	31696838	31696838	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:31696838G>A	ENST00000375789.2	-	1	731	c.101C>T	c.(100-102)cCc>cTc	p.P34L	DDAH2_ENST00000375787.2_Missense_Mutation_p.P34L|DDAH2_ENST00000480913.1_Intron|DDAH2_ENST00000375792.3_Missense_Mutation_p.P34L			O95865	DDAH2_HUMAN	dimethylarginine dimethylaminohydrolase 2	34					anti-apoptosis|arginine catabolic process|citrulline metabolic process|nitric oxide biosynthetic process|nitric oxide mediated signal transduction	cytoplasm	dimethylargininase activity|protein binding			endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	11					L-Citrulline(DB00155)	ATCCAGAGCGGGAAGGCCAGC	0.677000													38	215					0	0	0.00361006	0	0
KRT24	192666	broad.mit.edu	37	17	38857395	38857395	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:38857395C>T	ENST00000264651.2	-	3	908	c.852G>A	c.(850-852)gaG>gaA	p.E284E		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	284	Coil 1B.|Rod.					cytoplasm|intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				TTCCTACCTCCTCGTGGTTCT	0.463000													35	34					0	0	0.00170553	0	0
NPAS3	64067	broad.mit.edu	37	14	33836458	33836458	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:33836458G>A	ENST00000346562.2	+	3	430	c.356G>A	c.(355-357)gGa>gAa	p.G119E	NPAS3_ENST00000356141.4_Missense_Mutation_p.G151E|NPAS3_ENST00000551492.1_Missense_Mutation_p.G156E|NPAS3_ENST00000341321.4_Missense_Mutation_p.G151E|NPAS3_ENST00000547068.1_Missense_Mutation_p.G47E|NPAS3_ENST00000551008.1_Missense_Mutation_p.G49E|NPAS3_ENST00000548645.1_Missense_Mutation_p.G121E|NPAS3_ENST00000357798.5_Missense_Mutation_p.G138E	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	151					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		GCACATTTGGGAAGCCACATT	0.313000													7	13					0	0	0.000274275	0	0
PCDHB6	56130	broad.mit.edu	37	5	140531337	140531337	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:140531337C>T	ENST00000231136.1	+	1	1499	c.1499C>T	c.(1498-1500)tCc>tTc	p.S500F	PCDHB6_ENST00000543635.1_Missense_Mutation_p.S364F	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		500	Cadherin 5.				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)			CCCCTCTCTTCCCTGGTCTCC	0.652000													15	43					0	0	0.00074312	0	0
MRGPRX2	117194	broad.mit.edu	37	11	19077810	19077810	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:19077810C>T	ENST00000329773.2	-	2	227	c.140G>A	c.(139-141)gGa>gAa	p.G47E		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	47					sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding			NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						AAACCCGTTTCCTACCAGCCC	0.582000													8	38					0	0	0.00307968	0	0
SLAMF9	89886	broad.mit.edu	37	1	159922153	159922153	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:159922153G>A	ENST00000368093.3	-	3	679	c.563C>T	c.(562-564)tCc>tTc	p.S188F	SLAMF9_ENST00000368092.3_Intron|SLAMF9_ENST00000466773.1_5'UTR	NM_033438.3	NP_254273.2	Q96A28	SLAF9_HUMAN	SLAM family member 9	188	Ig-like C2-type.					integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CGGCCTCCAGGATGTGCTGAG	0.582000													10	44					0	0	0.00136819	0	0
HMMR	3161	broad.mit.edu	37	5	162898382	162898382	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:162898382A>G	ENST00000416990.2	+	7	715	c.218A>G	c.(217-219)aAg>aGg	p.K73R	HMMR_ENST00000358715.3_Missense_Mutation_p.K187R|HMMR_ENST00000393915.4_Missense_Mutation_p.K188R|HMMR_ENST00000353866.3_Missense_Mutation_p.K172R|HMMR_ENST00000432118.2_Missense_Mutation_p.K101R			O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor (RHAMM)	187						cell surface|cytoplasm	hyaluronic acid binding			cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)		ATGATGGCTAAGCAAGAAGGC	0.473000													10	28					0	0	0.00185496	0	0
C11orf30	56946	broad.mit.edu	37	11	76255614	76255614	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:76255614C>T	ENST00000529032.1	+	18	3021	c.3021C>T	c.(3019-3021)ctC>ctT	p.L1007L	C11orf30_ENST00000533248.1_Silent_p.L916L|C11orf30_ENST00000334736.3_Silent_p.L1007L|C11orf30_ENST00000525919.1_Silent_p.L1008L|C11orf30_ENST00000343878.3_Silent_p.L1007L|C11orf30_ENST00000524490.1_Silent_p.L909L|C11orf30_ENST00000524767.1_Silent_p.L1022L|C11orf30_ENST00000525038.1_Silent_p.L1008L			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	1007	Gln-rich.				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						TCACCCCTCTCCAGCAAGAAC	0.557000													10	37					0	0	0.000673444	0	0
HERC2	8924	broad.mit.edu	37	15	28515964	28515964	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:28515964G>A	ENST00000261609.7	-	10	1242	c.1134C>T	c.(1132-1134)acC>acT	p.T378T		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	378					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)		CTTGTGGAAGGGTGAGGTACC	0.483000													8	17					0	0	0.000274275	0	0
CSAG4	100130935	broad.mit.edu	37	X	151896327	151896327	+	RNA	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:151896327C>T	ENST00000361201.4	-	0	403					NR_073432.1															endometrium(2)|kidney(2)|lung(1)	5						GGTCCCTGTTCCCTTCCGGGT	0.532000													16	34					0	0	0.000958276	0	0
FNBP1	23048	broad.mit.edu	37	9	132658145	132658145	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:132658145G>A	ENST00000420781.1	-	16	2009	c.1791C>T	c.(1789-1791)gtC>gtT	p.V597V	FNBP1_ENST00000446176.2_Silent_p.V606V|FNBP1_ENST00000355681.3_Silent_p.V577V|FNBP1_ENST00000443566.2_Silent_p.V234V			Q96RU3	FNBP1_HUMAN	formin binding protein 1	606	Interaction with ARHGAP17, DAAM1, DIAPH1 and DIAPH2.|Interaction with DNM1 and DNM3.|Interaction with DNM2 and WASL.|Interaction with FASLG.|Interaction with PDE6G (By similarity).|Required for interaction with TNKS.|Required for self-association and induction of membrane tubulation.|SH3.				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|lysosome|plasma membrane	identical protein binding|lipid binding						Ovarian(14;0.000536)		GBM - Glioblastoma multiforme(294;0.0378)		AACAGACTTCGACATATGAAG	0.383000			T	MLL	AML								5	14					0	0	0.000602214	0	0
HIVEP3	59269	broad.mit.edu	37	1	42047508	42047508	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:42047508C>T	ENST00000372584.1	-	3	3975	c.2961G>A	c.(2959-2961)gaG>gaA	p.E987E	HIVEP3_ENST00000429157.2_Silent_p.E987E|HIVEP3_ENST00000372583.1_Silent_p.E987E|HIVEP3_ENST00000247584.5_Silent_p.E987E	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	987	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				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)				ACCTCCGCATCTCTCGGGCAT	0.597000													12	40					0	0	0.00185496	0	0
DZIP1	22873	broad.mit.edu	37	13	96263712	96263712	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr13:96263712G>A	ENST00000347108.3	-	10	1782	c.1350C>T	c.(1348-1350)atC>atT	p.I450I	DZIP1_ENST00000376829.2_Silent_p.I450I|DZIP1_ENST00000361396.2_Silent_p.I450I|DZIP1_ENST00000361156.3_Silent_p.I450I			Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	450					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)			TGGGTTCACTGATACTGTTTA	0.438000													10	37					0	0	0.000673444	0	0
SGSM3	27352	broad.mit.edu	37	22	40804674	40804674	+	Missense_Mutation	SNP	C	C	T	rs141061307		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr22:40804674C>T	ENST00000248929.9	+	17	2015	c.1826C>T	c.(1825-1827)tCc>tTc	p.S609F	SGSM3_ENST00000454798.2_Missense_Mutation_p.S542F	NM_015705.4	NP_056520.2	Q96HU1	SGSM3_HUMAN	small G protein signaling modulator 3	609	RUN.				cell cycle arrest|Rap protein signal transduction	cytoplasm	Rab GTPase activator activity|Rab GTPase binding			cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						TCCGTGTATTCCCGTCTGGTG	0.642000													15	26					0	0	0.00121646	0	0
ZEB1	6935	broad.mit.edu	37	10	31749965	31749965	+	Splice_Site	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:31749965G>A	ENST00000446923.2	+	2	398		c.e2-1		ZEB1_ENST00000542815.3_Intron|ZEB1_ENST00000320985.10_Splice_Site|ZEB1_ENST00000560721.2_Splice_Site|ZEB1_ENST00000361642.5_Splice_Site|ZEB1_ENST00000559858.1_Splice_Site	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1						cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				TTGTATTACAGTTACAAATTA	0.289000													4	24					0	0	0.000602214	0	0
VPS13B	157680	broad.mit.edu	37	8	100844830	100844830	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:100844830G>A	ENST00000358544.2	+	52	9750	c.9639G>A	c.(9637-9639)caG>caA	p.Q3213Q	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Silent_p.Q3188Q	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3213					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TTCCCAGACAGAGTGTGGCAG	0.473000													7	60					0	0	0.000442599	0	0
ITIH2	3698	broad.mit.edu	37	10	7763649	7763649	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:7763649G>A	ENST00000358415.4	+	8	942	c.776G>A	c.(775-777)aGa>aAa	p.R259K	ITIH2_ENST00000379587.4_Missense_Mutation_p.R248K	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	259					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						GCACAGCAGAGAATATGCCCT	0.572000													10	43					0	0	0.000442599	0	0
ACSM4	341392	broad.mit.edu	37	12	7476905	7476905	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:7476905G>A	ENST00000399422.4	+	10	1393	c.1345G>A	c.(1345-1347)Gat>Aat	p.D449N		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	449					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			endometrium(6)|kidney(1)|lung(14)	21						GATAAGAGGAGATTTTTATGT	0.453000													5	16					0	0	0.000602214	0	0
OR12D2	26529	broad.mit.edu	37	6	29364593	29364593	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:29364593G>A	ENST00000383555.2	+	1	178	c.117G>A	c.(115-117)ggG>ggA	p.G39G	OR5V1_ENST00000377154.1_Intron	NM_013936.3	NP_039224.2	P58182	O12D2_HUMAN	olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene)	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						GTGTGACTGGGAATGGAGCCG	0.458000													7	52					0	0	0.00198382	0	0
TATDN2	9797	broad.mit.edu	37	3	10312065	10312065	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:10312065G>A	ENST00000287652.4	+	4	2250	c.1199G>A	c.(1198-1200)aGc>aAc	p.S400N	RP11-438J1.1_ENST00000450534.1_3'UTR|TATDN2_ENST00000448281.2_Missense_Mutation_p.S400N	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	400						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						TCCACAGGCAGCAGCAGCAAC	0.552000													14	49					0	0	0.00316338	0	0
MXRA5	25878	broad.mit.edu	37	X	3241997	3241997	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:3241997T>G	ENST00000217939.6	-	5	1883	c.1729A>C	c.(1729-1731)Act>Cct	p.T577P		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	577	Ig-like C2-type 2.					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)				GCTGGCTGAGTGGAGGGAGAC	0.522000													3	6					0	0	6.4e-05	0	0
COL15A1	1306	broad.mit.edu	37	9	101832019	101832019	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:101832019G>A	ENST00000375001.3	+	42	4441	c.4018G>A	c.(4018-4020)Gaa>Aaa	p.E1340K		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	1340	Nonhelical region 10 (NC10).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				TAACTACTGTGAAGCATGGCG	0.522000													11	52					0	0	0.00185496	0	0
TRAV27	28655	broad.mit.edu	37	14	22616073	22616073	+	RNA	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:22616073C>T	ENST00000390457.2	+	0	125																											CGTGTCCATTCTTTGGATTCA	0.433000													3	6					0	0	6.4e-05	0	0
RP11-24M17.5	0	broad.mit.edu	37	15	76073326	76073326	+	RNA	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:76073326G>A	ENST00000395215.3	+	0	519																											GGATCTGGCTGGCCGCCTGCA	0.532000													5	39					0	0	0.00307968	0	0
TOX	9760	broad.mit.edu	37	8	59851945	59851945	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:59851945A>C	ENST00000361421.1	-	3	547	c.327T>G	c.(325-327)caT>caG	p.H109Q		NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box	109						nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				TGTTTTGTGGATGAAATGGTA	0.478000													7	51					0	0	0.000442599	0	0
IGSF22	283284	broad.mit.edu	37	11	18738425	18738425	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:18738425C>T	ENST00000513874.1	-	10	1235	c.1096G>A	c.(1096-1098)Gag>Aag	p.E366K	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859.3	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	366										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						CTCTTCAGCTCCTTCCCATTG	0.507000													29	133					0	0	0.00428921	0	0
FIGN	55137	broad.mit.edu	37	2	164466983	164466983	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:164466983G>A	ENST00000333129.3	-	3	1673	c.1359C>T	c.(1357-1359)tcC>tcT	p.S453S	FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	453						nuclear matrix	ATP binding|nucleoside-triphosphatase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						CAGAGTGGTTGGATGAGGTAG	0.542000													18	21					0	0	0.000566183	0	0
FAM171A1	221061	broad.mit.edu	37	10	15325991	15325991	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:15325991C>T	ENST00000378116.4	-	2	217	c.211G>A	c.(211-213)Gat>Aat	p.D71N		NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	71						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						GCGACGCCATCAGTCCCCGAG	0.587000													7	19					0	0	0.000442599	0	0
TAS2R16	50833	broad.mit.edu	37	7	122634905	122634905	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:122634905C>T	ENST00000249284.2	-	1	849	c.784G>A	c.(784-786)Gaa>Aaa	p.E262K		NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN	taste receptor, type 2, member 16	262					detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						ACAAAAGCTTCCCAGACCCAT	0.403000													16	77					0	0	0.00188189	0	0
SLC44A4	80736	broad.mit.edu	37	6	31831497	31831497	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:31831497G>A	ENST00000544672.1	-	21	2108	c.1812C>T	c.(1810-1812)tcC>tcT	p.S604S	SLC44A4_ENST00000375562.4_Silent_p.S638S|SLC44A4_ENST00000229729.6_Silent_p.S680S	NM_001178045.1	NP_001171516.1	Q53GD3	CTL4_HUMAN	solute carrier family 44, member 4	680						integral to membrane|plasma membrane	choline transmembrane transporter activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	GCCGGTCCAGGGAGCCGTTGT	0.597000													6	57					0	0	0.000274275	0	0
SNX8	29886	broad.mit.edu	37	7	2304088	2304088	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:2304088G>A	ENST00000222990.3	-	6	669	c.627C>T	c.(625-627)ttC>ttT	p.F209F		NM_013321.2	NP_037453.1	Q9Y5X2	SNX8_HUMAN	sorting nexin 8	209					cell communication|early endosome to Golgi transport|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(2)|skin(3)	26		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14)		CAGCTGGGAGGAAGTCCTGAC	0.602000													5	20					0	0	0.000602214	0	0
GABRB1	2560	broad.mit.edu	37	4	47427898	47427898	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:47427898C>T	ENST00000295454.3	+	9	1580	c.1288C>T	c.(1288-1290)Cgc>Tgc	p.R430C	GABRB1_ENST00000538619.1_Missense_Mutation_p.R360C	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	430					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			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	GGGGCGCATCCGCAGGCGTGC	0.607000													7	22					0	0	0.00307968	0	0
SLC1A4	6509	broad.mit.edu	37	2	65216839	65216839	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:65216839G>A	ENST00000234256.3	+	1	305	c.62G>A	c.(61-63)gGg>gAg	p.G21E	SLC1A4_ENST00000531327.1_Intron|SLC1A4_ENST00000493121.1_Intron	NM_003038.4	NP_003029.2	P43007	SATT_HUMAN	solute carrier family 1 (glutamate/neutral amino acid transporter), member 4	21					cellular nitrogen compound metabolic process|cognition|synaptic transmission, glutamatergic	intermediate filament|melanosome	chloride channel activity|L-alanine transmembrane transporter activity|L-cystine transmembrane transporter activity|L-hydroxyproline transmembrane transporter activity|L-proline transmembrane transporter activity|L-serine transmembrane transporter activity|L-threonine transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|urinary_tract(1)	13					L-Alanine(DB00160)	CCTGCGGCCGGGCCCGGAGCT	0.736000													4	6					0	0	0.000602214	0	0
OR2F2	135948	broad.mit.edu	37	7	143633204	143633204	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:143633204G>A	ENST00000408955.2	+	1	946	c.879G>A	c.(877-879)agG>agA	p.R293R		NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F, member 2	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					ATAGTCTAAGGAATAAAGAGG	0.438000													10	57					0	0	0.00136819	0	0
MDC1	9656	broad.mit.edu	37	6	30668266	30668266	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:30668266G>A	ENST00000376406.3	-	15	6893	c.6246C>T	c.(6244-6246)tcC>tcT	p.S2082S	MDC1_ENST00000376405.2_Silent_p.S1818S	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	2082	BRCT 2.|Required for nuclear localization (NLS2).				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						TCTCCAAAGGGGAGAGGACAA	0.542000								Other conserved DNA damage response genes					18	121					0	0	0.00229938	0	0
NLRC3	197358	broad.mit.edu	37	16	3611771	3611771	+	RNA	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:3611771G>A	ENST00000301749.7	-	0	2352				NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CGGGGTCCTGGAACTGGTTGG	0.667000													8	25					0	0	0.000274275	0	0
IPO13	9670	broad.mit.edu	37	1	44423730	44423730	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:44423730C>T	ENST00000372343.3	+	8	2284	c.1622C>T	c.(1621-1623)cCt>cTt	p.P541L		NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	541					protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				CTAGGCAATCCTGAGCTGTCT	0.557000													33	52					0	0	0.000953801	0	0
ELP6	54859	broad.mit.edu	37	3	47551689	47551689	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:47551689G>A	ENST00000296149.4	-	3	359	c.189C>T	c.(187-189)atC>atT	p.I63I	ELP6_ENST00000446787.1_5'UTR|ELP6_ENST00000439305.1_5'UTR	NM_001031703.2	NP_001026873.2			elongator acetyltransferase complex subunit 6																		TCTGTCCCACGATACTGTAGT	0.413000													13	54					0	0	0.000566183	0	0
EPHA6	285220	broad.mit.edu	37	3	96706323	96706323	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:96706323C>T	ENST00000389672.5	+	3	638	c.600C>T	c.(598-600)ttC>ttT	p.F200F	EPHA6_ENST00000542517.1_Silent_p.F106F|EPHA6_ENST00000470610.2_Silent_p.F200F	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	105	Ephrin-binding.					integral to plasma membrane	ATP binding|ephrin receptor activity			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						AAATGAAATTCACACTAAGGG	0.393000													11	23					0	0	0.000978159	0	0
KIF14	9928	broad.mit.edu	37	1	200584717	200584717	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:200584717G>A	ENST00000367350.4	-	3	1571	c.1133C>T	c.(1132-1134)tCc>tTc	p.S378F		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	378	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						GACTACCTGGGATGCTTTTTC	0.323000													9	61					0	0	0.000442599	0	0
CEACAM20	125931	broad.mit.edu	37	19	45028250	45028250	+	RNA	SNP	C	C	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:45028250C>G	ENST00000454753.1	-	0	519							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20							integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				TCCTTCTGCTCTATGGCAGTG	0.522000													42	179					0	0	0.00361006	0	0
GBP2	2634	broad.mit.edu	37	1	89579775	89579775	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:89579775C>T	ENST00000370466.3	-	7	1341	c.1073G>A	c.(1072-1074)aGt>aAt	p.S358N	GBP2_ENST00000463660.1_5'UTR	NM_004120.3	NP_004111.2	P32456	GBP2_HUMAN	guanylate binding protein 2, interferon-inducible	358					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1)	20		Lung NSC(277;0.0908)		all cancers(265;0.0151)|Epithelial(280;0.0284)		CTCTCTCTCACTGTCCCTGTG	0.507000													7	53					0	0	0.00307968	0	0
SAYSD1	55776	broad.mit.edu	37	6	39073498	39073498	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:39073498G>A	ENST00000229903.4	-	2	361	c.262C>T	c.(262-264)Cct>Tct	p.P88S	SAYSD1_ENST00000373249.1_Missense_Mutation_p.P21S	NM_018322.1	NP_060792.1	Q9NPB0	CF064_HUMAN	SAYSVFN motif domain containing 1	88						integral to membrane											GACGGCAGAGGAATGGCTGTG	0.498000													19	85					0	0	0.00332997	0	0
DNAH2	146754	broad.mit.edu	37	17	7680802	7680802	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:7680802G>A	ENST00000572933.1	+	33	6557	c.5097G>A	c.(5095-5097)ggG>ggA	p.G1699G	DNAH2_ENST00000389173.2_Silent_p.G1699G			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1699	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CCATCAGGGGGAACTTGACCA	0.498000													168	78					0	0	0.00361006	0	0
USP21	27005	broad.mit.edu	37	1	161133981	161133981	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:161133981C>T	ENST00000368002.3	+	10	1623	c.1246C>T	c.(1246-1248)Ctg>Ttg	p.L416L	USP21_ENST00000289865.8_Silent_p.L416L|USP21_ENST00000368001.1_Silent_p.L416L|USP21_ENST00000487163.1_3'UTR	NM_001014443.2	NP_001014443.1	Q9UK80	UBP21_HUMAN	ubiquitin specific peptidase 21	416					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding|NEDD8-specific protease activity|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CAAGGTGTCTCTGCGGGATTG	0.478000													6	57					0	0	0.00198382	0	0
PRDM9	56979	broad.mit.edu	37	5	23527765	23527765	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:23527765G>A	ENST00000296682.3	+	11	2750	c.2568G>A	c.(2566-2568)ggG>ggA	p.G856G		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	856					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CACACACAGGGGAGAAGCCCT	0.587000										HNSCC(3;0.000094)			8	31					0	0	0.000442599	0	0
MMRN2	79812	broad.mit.edu	37	10	88703301	88703301	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:88703301C>T	ENST00000372027.4	-	6	1313	c.1240G>A	c.(1240-1242)Gaa>Aaa	p.E414K		NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2	414						extracellular space				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						GAGTACAGTTCCTTGATCTCA	0.612000													21	35					0	0	0.00278032	0	0
SEZ6L	23544	broad.mit.edu	37	22	26707866	26707866	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr22:26707866C>T	ENST00000529632.2	+	8	2010	c.1814C>T	c.(1813-1815)gCc>gTc	p.A605V	SEZ6L_ENST00000404234.3_Missense_Mutation_p.A605V|SEZ6L_ENST00000403121.1_Missense_Mutation_p.A378V|SEZ6L_ENST00000343706.4_Missense_Mutation_p.A605V|SEZ6L_ENST00000248933.6_Missense_Mutation_p.A605V|SEZ6L_ENST00000402979.1_Missense_Mutation_p.A378V|SEZ6L_ENST00000360929.3_Missense_Mutation_p.A605V	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	605	Sushi 2.					endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CAGGGCCCGGCCATCATCGAA	0.582000													10	60					0	0	0.000978159	0	0
SELPLG	6404	broad.mit.edu	37	12	109017651	109017651	+	Missense_Mutation	SNP	G	G	A	rs63748999		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:109017651G>A	ENST00000388962.3	-	3	562	c.403C>T	c.(403-405)Cca>Tca	p.P135S	SELPLG_ENST00000550948.1_Missense_Mutation_p.P145S|SELPLG_ENST00000228463.6_Missense_Mutation_p.P161S	NM_003006.4	NP_002997.2	Q14242	SELPL_HUMAN	selectin P ligand	145	12 X 10 AA tandem repeats.		Missing (in short form; not an alternative splicing; dbSNP:rs63748999).		blood coagulation|cellular response to interleukin-6	integral to plasma membrane|membrane fraction	bacterial cell surface binding|receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(3)|skin(1)	12						GCTGCCAGTGGAGTGGTCTGT	0.617000													12	39					0	0	0.00185496	0	0
PCLO	27445	broad.mit.edu	37	7	82785193	82785193	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:82785193C>T	ENST00000423517.2	-	2	1101	c.764G>A	c.(763-765)gGa>gAa	p.G255E	PCLO_ENST00000333891.8_Missense_Mutation_p.G255E	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	255	Gln-rich.|Pro-rich.				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						AATTGGCTTTCCTGTACCTGG	0.478000													9	59					0	0	0.000673444	0	0
COA6	388753	broad.mit.edu	37	1	234509379	234509379	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:234509379C>T	ENST00000366615.4	+	1	178	c.167C>T	c.(166-168)tCc>tTc	p.S56F		NM_001206641.1	NP_001193570.1			cytochrome c oxidase assembly factor 6 homolog (S. cerevisiae)																		GTGACAGTTTCCTCCCGTCGA	0.687000													9	49					0	0	0.000978159	0	0
E2F8	79733	broad.mit.edu	37	11	19247302	19247302	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:19247302C>T	ENST00000527884.1	-	11	2235	c.2003G>A	c.(2002-2004)aGg>aAg	p.R668K	E2F8_ENST00000250024.4_Missense_Mutation_p.R668K|E2F8_ENST00000529188.1_5'UTR|RP11-428C19.4_ENST00000527978.1_RNA	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	668					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GCTGTAAATCCTGTGGTTTGG	0.473000													33	56					0	0	0.00283554	0	0
SIMC1	375484	broad.mit.edu	37	5	175772235	175772235	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:175772235G>A	ENST00000443967.1	+	12	2813	c.2406G>A	c.(2404-2406)agG>agA	p.R802R	SIMC1_ENST00000341199.6_Silent_p.R387R|SIMC1_ENST00000332772.4_Silent_p.R263R|SIMC1_ENST00000430704.2_Silent_p.R387R					SUMO-interacting motifs containing 1																		TAATCAAAAGGATTAAGCCCA	0.483000													18	62					0	0	0.000958276	0	0
DGKD	8527	broad.mit.edu	37	2	234368427	234368427	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:234368427C>T	ENST00000264057.2	+	23	2731	c.2719C>T	c.(2719-2721)Ctt>Ttt	p.L907F	DGKD_ENST00000409813.3_Missense_Mutation_p.L863F	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	907					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	GATCTCCATCCTTGGGGATGA	0.567000													5	22					0	0	0.00116845	0	0
SLC26A9	115019	broad.mit.edu	37	1	205896708	205896708	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:205896708T>C	ENST00000367135.3	-	10	1240	c.1127A>G	c.(1126-1128)aAc>aGc	p.N376S	SLC26A9_ENST00000367134.2_Missense_Mutation_p.N376S|SLC26A9_ENST00000340781.4_Missense_Mutation_p.N376S	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	376						integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			GCCAAAGAAGTTGCTGCAGCC	0.547000													9	54					0	0	0.000673444	0	0
SYT10	341359	broad.mit.edu	37	12	33535331	33535331	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:33535331C>T	ENST00000228567.3	-	5	1619	c.1323G>A	c.(1321-1323)gaG>gaA	p.E441E	SYT10_ENST00000535526.1_Silent_p.E260E	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	441	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					GGTCCACGTTCTCTGGAGGGA	0.443000													13	49					0	0	0.00185496	0	0
TNR	7143	broad.mit.edu	37	1	175362936	175362936	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:175362936C>T	ENST00000367674.1	-	6	2044	c.1336G>A	c.(1336-1338)Gaa>Aaa	p.E446K	TNR_ENST00000263525.2_Missense_Mutation_p.E446K	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	446	Fibronectin type-III 2.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					AAGCTGATTTCCCACCCATCG	0.473000													25	122					0	0	0.00127121	0	0
TTC14	151613	broad.mit.edu	37	3	180326496	180326496	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:180326496T>C	ENST00000296015.4	+	11	1430	c.1298T>C	c.(1297-1299)tTg>tCg	p.L433S	TTC14_ENST00000382584.4_Missense_Mutation_p.L433S|TTC14_ENST00000412756.2_3'UTR|TTC14_ENST00000465625.1_3'UTR	NM_133462.3	NP_597719.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	433							RNA binding			endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			AAGAAATCTTTGGAATTAAGA	0.338000													3	10					0	0	6.4e-05	0	0
MUC16	94025	broad.mit.edu	37	19	9088160	9088160	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:9088160G>A	ENST00000397910.4	-	1	3858	c.3655C>T	c.(3655-3657)Ccc>Tcc	p.P1219S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1219	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.P1219S(2)		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						GTGTCCAAGGGAACCAGGGTG	0.502000													23	115					0	0	0.00332997	0	0
STAU1	6780	broad.mit.edu	37	20	47733732	47733732	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:47733732G>A	ENST00000371828.3	-	12	1825	c.1338C>T	c.(1336-1338)atC>atT	p.I446I	STAU1_ENST00000360426.4_Silent_p.I440I|STAU1_ENST00000371792.1_Silent_p.I438I|STAU1_ENST00000371802.1_Silent_p.I446I|STAU1_ENST00000347458.5_Silent_p.I440I|STAU1_ENST00000340954.7_Silent_p.I440I|STAU1_ENST00000371856.2_Silent_p.I521I	NM_001037328.1|NM_004602.2	NP_001032405.1|NP_004593.2	O95793	STAU1_HUMAN	staufen double-stranded RNA binding protein 1	521						microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			AGGAGCAATTGATAAGAGATA	0.478000													8	45					0	0	0.00307968	0	0
AQP1	358	broad.mit.edu	37	7	30951875	30951875	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:30951875C>T	ENST00000311813.4	+	1	406	c.351C>T	c.(349-351)tcC>tcT	p.S117S	AQP1_ENST00000434909.2_Silent_p.S177S|AQP1_ENST00000509504.1_Silent_p.S294S	NM_198098.2	NP_932766.1			aquaporin 1											kidney(1)|large_intestine(2)|lung(9)	12		Melanoma(862;0.16)				GCATCACCTCCTCCCTGACTG	0.607000													5	63					0	0	0.00116845	0	0
SPAG17	200162	broad.mit.edu	37	1	118548057	118548057	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:118548057G>A	ENST00000336338.5	-	32	4821	c.4756C>T	c.(4756-4758)Cct>Tct	p.P1586S		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1586						cilium|flagellar axoneme|microtubule		p.P1586S(1)		NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TTTCCCTCAGGATCCAGAACC	0.438000													21	55					0	0	0.001512	0	0
CDC42EP1	11135	broad.mit.edu	37	22	37964199	37964199	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr22:37964199C>T	ENST00000249014.4	+	3	968	c.548C>T	c.(547-549)tCt>tTt	p.S183F		NM_152243.2	NP_689449.1	Q00587	BORG5_HUMAN	CDC42 effector protein (Rho GTPase binding) 1	183					positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|endomembrane system|Golgi apparatus|plasma membrane	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(4)|prostate(5)	15	Melanoma(58;0.0574)					TCCTTCCCCTCTGAGCCCGGG	0.637000													13	38					0	0	0.00185496	0	0
CWF19L2	143884	broad.mit.edu	37	11	107263597	107263597	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:107263597G>A	ENST00000282251.5	-	11	1669	c.1642C>T	c.(1642-1644)Ctt>Ttt	p.L548F	CWF19L2_ENST00000433523.1_Missense_Mutation_p.L548F	NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	548							catalytic activity	p.L394F(1)		endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		GTTCTGACAAGGATTACTTCT	0.338000													18	44					0	0	0.00121646	0	0
FAT4	79633	broad.mit.edu	37	4	126328071	126328071	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:126328071G>A	ENST00000394329.3	+	3	5357	c.5344G>A	c.(5344-5346)Gga>Aga	p.G1782R	FAT4_ENST00000335110.5_Missense_Mutation_p.G80R	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1782	Cadherin 17.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			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						TATCATTAGTGGAGCTGATGA	0.448000													12	23					0	0	0.00136819	0	0
RASGRF1	5923	broad.mit.edu	37	15	79339138	79339138	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:79339138G>A	ENST00000419573.3	-	5	1102	c.828C>T	c.(826-828)tcC>tcT	p.S276S	RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Silent_p.S276S	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	276	DH.				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GAGGCTTCTTGGAGCTGGCGG	0.577000													30	55					0	0	0.00283554	0	0
IFT172	26160	broad.mit.edu	37	2	27676352	27676352	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:27676352G>A	ENST00000260570.3	-	35	3953	c.3850C>T	c.(3850-3852)Cga>Tga	p.R1284*		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172 homolog (Chlamydomonas)	1284					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					TCCCAGTGTCGAGCTTGTTCC	0.582000													12	13					0	0	0.000978159	0	0
INSR	3643	broad.mit.edu	37	19	7267804	7267804	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:7267804C>T	ENST00000341500.5	-	2	243	c.204G>A	c.(202-204)acG>acA	p.T68T	INSR_ENST00000302850.5_Silent_p.T68T	NM_001079817.1	NP_001073285.1	P06213	INSR_HUMAN	insulin receptor	68					activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CTTCGGGCCTCGTTTTGAACA	0.507000													53	232					0	0	0.00361006	0	0
AGPAT5	55326	broad.mit.edu	37	8	6614771	6614771	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:6614771G>A	ENST00000285518.6	+	8	1269	c.957G>A	c.(955-957)aaG>aaA	p.K319K		NM_018361.3	NP_060831.2	Q9NUQ2	PLCE_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 5	319					phospholipid biosynthetic process	integral to membrane|mitochondrion	1-acylglycerol-3-phosphate O-acyltransferase activity		AGPAT5/MCPH1(2)	endometrium(2)|kidney(2)|large_intestine(4)|lung(3)	11			STAD - Stomach adenocarcinoma(24;0.0578)	READ - Rectum adenocarcinoma(644;0.156)|COAD - Colon adenocarcinoma(149;0.191)		TAAGTATCAAGAAGACTTTAC	0.378000													12	69					0	0	0.000978159	0	0
LGALS12	85329	broad.mit.edu	37	11	63277347	63277347	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:63277347C>T	ENST00000415491.2	+	3	967	c.353C>T	c.(352-354)gCt>gTt	p.A118V	LGALS12_ENST00000255684.5_Missense_Mutation_p.A179V|LGALS12_ENST00000425950.2_Missense_Mutation_p.A118V|LGALS12_ENST00000340246.5_Missense_Mutation_p.A180V|LGALS12_ENST00000394618.3_Missense_Mutation_p.A179V	NM_001142537.1	NP_001136009.1	Q96DT0	LEG12_HUMAN	lectin, galactoside-binding, soluble, 12	179	Galectin 1.				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						CTGGTAGAGGCTGTTGGATTC	0.552000													7	42					0	0	0.00307968	0	0
KIAA0586	9786	broad.mit.edu	37	14	58953857	58953857	+	Missense_Mutation	SNP	C	C	T	rs77810875		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:58953857C>T	ENST00000423743.3	+	23	3403	c.3145C>T	c.(3145-3147)Cct>Tct	p.P1049S	KIAA0586_ENST00000538571.2_3'UTR|KIAA0586_ENST00000354386.6_Missense_Mutation_p.P1146S|KIAA0586_ENST00000261244.5_Missense_Mutation_p.P1017S|KIAA0586_ENST00000556134.1_Missense_Mutation_p.P1078S	NM_001244191.1|NM_001244192.1	NP_001231120.1|NP_001231121.1	E9PGW8	E9PGW8_HUMAN	KIAA0586	1017										endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TATGGCTTTTCCTGTGAAAGA	0.368000													12	37					0	0	0.00316338	0	0
RP1	6101	broad.mit.edu	37	8	55537937	55537937	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:55537937C>T	ENST00000220676.1	+	4	1643	c.1495C>T	c.(1495-1497)Cac>Tac	p.H499Y		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	499					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)			GTCTGAGTATCACATGTTTAC	0.358000													6	62					0	0	0.00116845	0	0
CMKLR1	1240	broad.mit.edu	37	12	108686311	108686311	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:108686311G>A	ENST00000397688.2	-	3	792	c.423C>T	c.(421-423)ctC>ctT	p.L141L	CMKLR1_ENST00000552995.1_Silent_p.L141L|CMKLR1_ENST00000550402.1_Silent_p.L143L|CMKLR1_ENST00000312143.7_Silent_p.L143L|CMKLR1_ENST00000412676.1_Silent_p.L143L	NM_004072.2	NP_004063.1	Q99788	CML1_HUMAN	chemokine-like receptor 1	143					chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development	integral to plasma membrane	chemokine receptor activity			endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						ACCAGACAGGGAGGAGCACAG	0.552000													9	28					0	0	0.000442599	0	0
FLT4	2324	broad.mit.edu	37	5	180043412	180043412	+	Silent	SNP	A	A	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:180043412A>T	ENST00000261937.6	-	23	3252	c.3174T>A	c.(3172-3174)ctT>ctA	p.L1058L	FLT4_ENST00000393347.3_Silent_p.L1058L|FLT4_ENST00000502649.1_Silent_p.L1058L	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	1058	Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	TGTCCCGGGCAAGGCCAAAGT	0.617000													4	15					0	0	0.000602214	0	0
DNAH5	1767	broad.mit.edu	37	5	13871727	13871727	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:13871727C>T	ENST00000265104.4	-	23	3648	c.3544G>A	c.(3544-3546)Gaa>Aaa	p.E1182K	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1182	Stem (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)					GCATTAATTTCCTGCTCTAGG	0.373000									Kartagener syndrome				5	30					0	0	0.00116845	0	0
TTN	7273	broad.mit.edu	37	2	179462773	179462773	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:179462773C>T	ENST00000589042.1	-	293	57348	c.57124G>A	c.(57124-57126)Gaa>Aaa	p.E19042K	TTN_ENST00000342175.6_Missense_Mutation_p.E10169K|TTN_ENST00000460472.2_Missense_Mutation_p.E9977K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E16474K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E17401K|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E10102K|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589830.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	17401	Fibronectin type-III 38.						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)			CCTCTCACTTCTTTATCTTTA	0.393000													16	108					0	0	0.00188189	0	0
SH3PXD2B	285590	broad.mit.edu	37	5	171833335	171833335	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:171833335G>A	ENST00000311601.5	-	3	348	c.178C>T	c.(178-180)Ccc>Tcc	p.P60S	SH3PXD2B_ENST00000519643.1_Missense_Mutation_p.P60S	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	60	PX.				adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CCTTCCATGGGAAATTTGTCC	0.463000													16	50					0	0	0.00074312	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102453932	102453932	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:102453932C>T	ENST00000360184.4	+	9	2845	c.2681C>T	c.(2680-2682)tCc>tTc	p.S894F		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	894	Stem (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CACTCCTATTCCAATTTGCCC	0.428000													14	28					0	0	0.000958276	0	0
KRT2	3849	broad.mit.edu	37	12	53041994	53041994	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:53041994C>T	ENST00000309680.3	-	5	1106	c.1085G>A	c.(1084-1086)aGg>aAg	p.R362K		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	362	Coil 2.|Rod.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		TTCCTTGCTCCTCTGGGCGAT	0.582000													17	57					0	0	0.00121646	0	0
MGAM	8972	broad.mit.edu	37	7	141720782	141720782	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:141720782G>A	ENST00000475668.2	+	5	511	c.457G>A	c.(457-459)Gcc>Acc	p.A153T	MGAM_ENST00000549489.2_Missense_Mutation_p.A153T			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	153					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)	AGGATTCACAGCCCGGTTGAA	0.378000													7	57					0	0	0.00198382	0	0
USP40	55230	broad.mit.edu	37	2	234465579	234465579	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:234465579G>A	ENST00000251722.6	-	5	585	c.468C>T	c.(466-468)gaC>gaT	p.D156D	USP40_ENST00000450966.1_Silent_p.D168D|USP40_ENST00000427112.2_Silent_p.D156D			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	156					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		GATAGATGAGGTCATGACCGG	0.418000													31	36					0	0	0.00178596	0	0
COL4A6	1288	broad.mit.edu	37	X	107422581	107422581	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:107422581G>A	ENST00000334504.7	-	26	2452	c.2219C>T	c.(2218-2220)cCa>cTa	p.P740L	COL4A6_ENST00000538570.1_Missense_Mutation_p.P740L|COL4A6_ENST00000394872.2_Missense_Mutation_p.P741L|COL4A6_ENST00000372216.4_Missense_Mutation_p.P741L|COL4A6_ENST00000545689.1_Missense_Mutation_p.P740L	NM_033641.2	NP_378667.1	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	741	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						AGGTAAGCCTGGACTGCCAAT	0.537000									Alport syndrome with Diffuse Leiomyomatosis				8	6					0	0	0.00307968	0	0
TJP3	27134	broad.mit.edu	37	19	3735609	3735609	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:3735609C>T	ENST00000541714.2	+	9	1494	c.1032C>T	c.(1030-1032)acC>acT	p.T344T	TJP3_ENST00000382008.3_Silent_p.T358T|TJP3_ENST00000587686.1_Silent_p.T363T|TJP3_ENST00000589378.1_Silent_p.T353T|TJP3_ENST00000262968.9_Silent_p.T377T|TJP3_ENST00000539908.2_Silent_p.T308T	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	358						tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		ATTCCAGAACCATCTCGGAAC	0.567000													33	38					0	0	0.00428921	0	0
LMO7	4008	broad.mit.edu	37	13	76423255	76423255	+	Silent	SNP	T	T	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr13:76423255T>A	ENST00000357063.3	+	28	5607	c.4347T>A	c.(4345-4347)tcT>tcA	p.S1449S	LMO7_ENST00000377534.3_Silent_p.S1449S|LMO7_ENST00000341547.4_Silent_p.S1115S|LMO7_ENST00000465261.2_Silent_p.S1164S|LMO7_ENST00000321797.8_Silent_p.S1164S|LMO7_ENST00000526202.1_Silent_p.S1041S			Q8WWI1	LMO7_HUMAN	LIM domain 7	1449						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		ACATGACCTCTTCACAGAGGA	0.373000													5	20					0	0	0.00198382	0	0
OR4E2	26686	broad.mit.edu	37	14	22133687	22133687	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:22133687C>T	ENST00000408935.1	+	1	391	c.391C>T	c.(391-393)Cac>Tac	p.H131Y		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		CACTCCACTCCACTACCCCAA	0.483000													21	49					0	0	0.00395357	0	0
ZC3H13	23091	broad.mit.edu	37	13	46543227	46543227	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr13:46543227A>G	ENST00000242848.4	-	14	3800	c.3452T>C	c.(3451-3453)tTt>tCt	p.F1151S	ZC3H13_ENST00000282007.3_Missense_Mutation_p.F1151S|ZC3H13_ENST00000378921.2_Missense_Mutation_p.F107S			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	1151							nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		TTCATTGGCAAAAGTATTATt	0.488000													4	34					0	0	0.000602214	0	0
TMEM74	157753	broad.mit.edu	37	8	109797168	109797168	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:109797168C>T	ENST00000297459.3	-	2	338	c.160G>A	c.(160-162)Gag>Aag	p.E54K	TMEM74_ENST00000518838.1_Intron	NM_153015.1	NP_694560.1	Q96NL1	TMM74_HUMAN	transmembrane protein 74	54					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)			CCTTCCATCTCGGTTGCTCTT	0.537000													11	77					0	0	0.00136819	0	0
HYAL2	8692	broad.mit.edu	37	3	50355824	50355824	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:50355824G>A	ENST00000447092.1	-	3	3450	c.1158C>T	c.(1156-1158)ttC>ttT	p.F386F	HYAL2_ENST00000395139.3_Silent_p.F386F|HYAL2_ENST00000442581.1_Silent_p.F386F|HYAL2_ENST00000357750.4_Silent_p.F386F			Q12891	HYAL2_HUMAN	hyaluronoglucosaminidase 2	386	EGF-like.					anchored to membrane|lysosome|plasma membrane	hyalurononglucosaminidase activity|receptor activity			breast(1)|endometrium(2)|kidney(1)|ovary(1)|prostate(1)|skin(1)	7				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	Hyaluronidase(DB00070)	TGAGATGCAGGAAGGTACTGG	0.632000													21	28					0	0	0.000720815	0	0
PRR12	57479	broad.mit.edu	37	19	50098347	50098347	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:50098347C>T	ENST00000418929.2	+	4	767	c.755C>T	c.(754-756)tCc>tTc	p.S252F		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	38	Pro-rich.						DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		GCTTCCTCTTCCGCTGCCGCC	0.711000													5	12					0	0	0.00198382	0	0
SLAMF1	6504	broad.mit.edu	37	1	160607057	160607057	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:160607057C>T	ENST00000302035.6	-	2	688	c.339G>A	c.(337-339)gaG>gaA	p.E113E	SLAMF1_ENST00000235739.5_Silent_p.E113E|SLAMF1_ENST00000355199.3_Silent_p.E113E|SLAMF1_ENST00000494463.1_5'UTR|SLAMF1_ENST00000538290.1_Silent_p.E113E	NM_003037.2	NP_003028.1	Q13291	SLAF1_HUMAN	signaling lymphocytic activation molecule family member 1	113					interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation	integral to membrane	antigen binding|transmembrane receptor activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			ATCCCTCATCCTCCTTCCTGC	0.498000													12	62					0	0	0.00185496	0	0
FBN3	84467	broad.mit.edu	37	19	8174176	8174176	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:8174176G>A	ENST00000600128.1	-	36	4967	c.4553C>T	c.(4552-4554)tCc>tTc	p.S1518F	FBN3_ENST00000601739.1_Missense_Mutation_p.S1518F|FBN3_ENST00000270509.2_Missense_Mutation_p.S1518F			Q75N90	FBN3_HUMAN	fibrillin 3	1518	TB 6.					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						GCAACAGCAGGAAGCTCGGGT	0.622000													13	13					0	0	0.00244969	0	0
GARS	2617	broad.mit.edu	37	7	30661969	30661969	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:30661969G>A	ENST00000389266.3	+	12	1745	c.1504G>A	c.(1504-1506)Gga>Aga	p.G502R		NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	502					cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation	cytosol|mitochondrial matrix|soluble fraction	ATP binding|glycine-tRNA ligase activity|protein dimerization activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	ACCCAGTAAGGGAGCAATTGG	0.403000													7	89					0	0	0.00198382	0	0
CDO1	1036	broad.mit.edu	37	5	115146919	115146919	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:115146919G>A	ENST00000250535.4	-	3	898	c.342C>T	c.(340-342)tcC>tcT	p.S114S	CDO1_ENST00000502631.1_5'UTR	NM_001801.2	NP_001792.2	Q16878	CDO1_HUMAN	cysteine dioxygenase type 1	114					inflammatory response|sulfur amino acid biosynthetic process|taurine biosynthetic process	cytosol	cysteine dioxygenase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|skin(5)	11		all_cancers(142;0.0046)|all_epithelial(76;0.000161)|Prostate(80;0.0132)|Ovarian(225;0.0776)		OV - Ovarian serous cystadenocarcinoma(64;7.8e-08)|Epithelial(69;7.32e-07)|all cancers(49;3.24e-05)	L-Cysteine(DB00151)|NADH(DB00157)	CCATCTCATTGGATTTTTTGT	0.403000													37	150					0	0	0.00128727	0	0
GBP7	388646	broad.mit.edu	37	1	89607325	89607325	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:89607325C>T	ENST00000294671.2	-	9	1510	c.1372G>A	c.(1372-1374)Gag>Aag	p.E458K		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	458						integral to membrane	GTP binding|GTPase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		TGGAGGACCTCGTCTGCCTGA	0.488000													9	22					0	0	0.00136819	0	0
MMRN1	22915	broad.mit.edu	37	4	90857003	90857003	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:90857003G>A	ENST00000394980.1	+	7	2491	c.2172G>A	c.(2170-2172)atG>atA	p.M724I	MMRN1_ENST00000264790.2_Missense_Mutation_p.M724I|MMRN1_ENST00000508372.1_Missense_Mutation_p.M466I|MMRN1_ENST00000394981.1_Intron			Q13201	MMRN1_HUMAN	multimerin 1	724					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		CCTTAGAAATGGAAGATGGCC	0.313000													5	29					0	0	0.000602214	0	0
ASXL2	55252	broad.mit.edu	37	2	26029195	26029195	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:26029195G>A	ENST00000435504.4	-	4	448	c.155C>T	c.(154-156)cCt>cTt	p.P52L	ASXL2_ENST00000497092.1_5'UTR|ASXL2_ENST00000336112.4_Missense_Mutation_p.P24L|ASXL2_ENST00000272341.4_5'UTR			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	52					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCATGCAAGAGGAGAAGTCCC	0.373000													10	13					0	0	0.00136819	0	0
OR14I1	401994	broad.mit.edu	37	1	248845046	248845046	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:248845046G>A	ENST00000342623.3	-	1	583	c.560C>T	c.(559-561)tCc>tTc	p.S187F		NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I, member 1	187					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						AACCTCACAGGAAACCAGGGC	0.493000													11	22					0	0	0.000673444	0	0
TOX2	84969	broad.mit.edu	37	20	42693471	42693471	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:42693471G>A	ENST00000372999.1	+	7	1002	c.808G>A	c.(808-810)Gcc>Acc	p.A270T	TOX2_ENST00000435864.2_Missense_Mutation_p.A190T|TOX2_ENST00000341197.3_Missense_Mutation_p.A312T|TOX2_ENST00000358131.5_Intron|TOX2_ENST00000423191.1_Missense_Mutation_p.A270T	NM_032883.2	NP_116272.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	302					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			GGCCCTGGCAGCCTACCGGGC	0.552000													6	58					0	0	0.00198382	0	0
RAB11FIP5	26056	broad.mit.edu	37	2	73303160	73303160	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:73303160G>A	ENST00000258098.6	-	4	1959	c.1719C>T	c.(1717-1719)gcC>gcT	p.A573A	RAB11FIP5_ENST00000493523.2_5'UTR	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	573					protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						CAGCCTGGGGGGCCTGGGTCA	0.597000													14	77					0	0	0.00185496	0	0
TTN	7273	broad.mit.edu	37	2	179588245	179588245	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:179588245C>T	ENST00000589042.1	-	74	21806	c.21582G>A	c.(21580-21582)ctG>ctA	p.L7194L	TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Silent_p.L5950L|RP11-171I2.1_ENST00000590024.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Silent_p.L6877L|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6877							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)			TAAATAATTCCAGTTCTGCCA	0.453000													9	12					0	0	0.000274275	0	0
PCM1	5108	broad.mit.edu	37	8	17871517	17871517	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:17871517C>T	ENST00000325083.8	+	35	5995	c.5556C>T	c.(5554-5556)gtC>gtT	p.V1852V	PCM1_ENST00000327578.8_Silent_p.V551V|PCM1_ENST00000519253.1_Silent_p.V1844V|PCM1_ENST00000524226.1_Intron	NM_006197.3	NP_006188.3	Q15154	PCM1_HUMAN	pericentriolar material 1	1852					centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		GCAAAAATGTCCCATTGGAAC	0.303000			T	"""RET, JAK2"""	"""papillary thyroid, CML, MPD"""								5	38					0	0	0.00198382	0	0
KALRN	8997	broad.mit.edu	37	3	123987809	123987809	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:123987809C>T	ENST00000360013.3	+	5	797	c.670C>T	c.(670-672)Cgg>Tgg	p.R224W	KALRN_ENST00000460856.1_Missense_Mutation_p.R224W|KALRN_ENST00000240874.3_Missense_Mutation_p.R224W	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	224					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						GGAGGGCTCTCGGCGGCTCAT	0.627000													5	14					0	0	0.00116845	0	0
INADL	10207	broad.mit.edu	37	1	62367033	62367033	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:62367033A>G	ENST00000371158.2	+	24	3397	c.3283A>G	c.(3283-3285)Aat>Gat	p.N1095D	INADL_ENST00000316485.6_Missense_Mutation_p.N1095D	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	1095	PDZ 6.				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						ACGTCTAAAGAATGGAGAGGA	0.358000													15	49					0	0	0.00316338	0	0
NRDE2	55051	broad.mit.edu	37	14	90755259	90755259	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:90755259G>A	ENST00000354366.3	-	11	2692	c.2460C>T	c.(2458-2460)ctC>ctT	p.L820L	NRDE2_ENST00000357904.3_Silent_p.L589L	NM_017970.3	NP_060440.2			NRDE-2, necessary for RNA interference, domain containing																		TGAGCTCACAGAGGTCAGAGT	0.522000													11	24					0	0	0.000978159	0	0
PRPF4B	8899	broad.mit.edu	37	6	4042723	4042723	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:4042723T>C	ENST00000337659.6	+	5	1671	c.1571T>C	c.(1570-1572)cTt>cCt	p.L524P	PRPF4B_ENST00000538861.1_Missense_Mutation_p.L510P	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN	pre-mRNA processing factor 4B	524						catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				TCTTTAAGCCTTGAAGACTTT	0.338000													14	103					0	0	0.00400662	0	0
GABRP	2568	broad.mit.edu	37	5	170222313	170222313	+	Silent	SNP	C	C	T	rs149165781		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:170222313C>T	ENST00000518525.1	+	6	806	c.342C>T	c.(340-342)ttC>ttT	p.F114F	GABRP_ENST00000519385.1_Silent_p.F114F|GABRP_ENST00000519598.1_Silent_p.F114F|GABRP_ENST00000265294.4_Silent_p.F114F			O00591	GBRP_HUMAN	gamma-aminobutyric acid (GABA) A receptor, pi	114						cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TCGTGGAGTTCCTCTGGGTGC	0.552000													14	55					0	0	0.00400662	0	0
TTN	7273	broad.mit.edu	37	2	179576002	179576002	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:179576002C>T	ENST00000589042.1	-	97	28185	c.27961G>A	c.(27961-27963)Gat>Aat	p.D9321N	TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D8077N|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D9004N|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589830.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9004	Ig-like 76.						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)			ATGGCACAATCAAAAACAACT	0.383000													16	75					0	0	0.00316338	0	0
CADPS2	93664	broad.mit.edu	37	7	122114438	122114438	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:122114438G>A	ENST00000334010.7	-	12	2419	c.1998C>T	c.(1996-1998)tgC>tgT	p.C666C	CADPS2_ENST00000313070.7_Silent_p.C662C|CADPS2_ENST00000412584.2_Silent_p.C662C|CADPS2_ENST00000449022.2_Silent_p.C665C	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	665					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						TACTCACCAAGCAAGAATAGG	0.363000													16	99					0	0	0.000566183	0	0
OR2L13	284521	broad.mit.edu	37	1	248263174	248263174	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:248263174C>T	ENST00000366478.2	+	3	834	c.497C>T	c.(496-498)cCc>cTc	p.P166L	OR2L13_ENST00000358120.2_Missense_Mutation_p.P166L	NM_175911.2	NP_787107.1	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	166					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			CTTCATATTCCCTACTGCAGG	0.458000													20	84					0	0	0.000958276	0	0
RAB40C	57799	broad.mit.edu	37	16	677464	677464	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:677464G>A	ENST00000535977.1	+	7	910	c.688G>A	c.(688-690)Ggc>Agc	p.G230S	RAB40C_ENST00000539661.1_Missense_Mutation_p.G230S|RAB40C_ENST00000538492.1_Missense_Mutation_p.G230S|RAB40C_ENST00000248139.3_Missense_Mutation_p.G230S	NM_001172663.1	NP_001166134.1	Q96S21	RB40C_HUMAN	RAB40C, member RAS oncogene family	230					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			NS(1)|endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	6		Hepatocellular(780;0.0218)				GATGGCCAACGGCATGAACGC	0.647000													12	60					0	0	0.00136819	0	0
C2orf15	150590	broad.mit.edu	37	2	99767217	99767217	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:99767217G>A	ENST00000302513.2	+	4	934	c.298G>A	c.(298-300)Gga>Aga	p.G100R	TSGA10_ENST00000393483.3_Intron|C2orf15_ENST00000409684.1_Missense_Mutation_p.G100R	NM_144706.2	NP_653307.1	Q8WU43	CB015_HUMAN	chromosome 2 open reading frame 15	100										autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(1)	6						GACTGGCACAGGATCTCTTTC	0.393000													26	48					0	0	0.001512	0	0
AHCYL1	10768	broad.mit.edu	37	1	110561083	110561083	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:110561083C>T	ENST00000369799.5	+	12	1579	c.1212C>T	c.(1210-1212)atC>atT	p.I404I	AHCYL1_ENST00000393614.4_Silent_p.I357I|AHCYL1_ENST00000359172.3_Silent_p.I357I	NM_001242673.1|NM_001242674.1|NM_006621.5	NP_001229602.1|NP_001229603.1|NP_006612.2	O43865	SAHH2_HUMAN	adenosylhomocysteinase-like 1	404	NAD binding (By similarity).				one-carbon metabolic process	endoplasmic reticulum	adenosylhomocysteinase activity	p.I404I(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)	18		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0259)|Colorectal(144;0.123)|all cancers(265;0.134)|Epithelial(280;0.141)|LUSC - Lung squamous cell carcinoma(189;0.143)		ACACAGAAATCGATGTGGTAA	0.413000													7	23					0	0	0.00307968	0	0
NCF1B	654816	broad.mit.edu	37	7	72639930	72639930	+	RNA	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:72639930G>A	ENST00000423083.1	+	0	158					NR_003186.1																						GCTCCCAAGTGGTTTGACGGG	0.667000													6	22					0	0	0.000442599	0	0
PCDHGA1	56114	broad.mit.edu	37	5	140712330	140712330	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:140712330G>A	ENST00000517417.1	+	1	2079	c.2079G>A	c.(2077-2079)ctG>ctA	p.L693L	PCDHGA1_ENST00000378105.3_Silent_p.L693L	NM_018912.2	NP_061735.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCTGTACCTGGTGGTGGCGG	0.672000													14	60					0	0	0.00121646	0	0
C1orf101	257044	broad.mit.edu	37	1	244756721	244756721	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:244756721G>A	ENST00000366534.4	+	16	2268	c.2214G>A	c.(2212-2214)tcG>tcA	p.S738S	C1orf101_ENST00000473875.1_3'UTR|C1orf101_ENST00000366533.4_Silent_p.S738S|C1orf101_ENST00000366531.3_Silent_p.S587S	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101	738						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			ATCAGCCATCGAAAAACTTGG	0.323000													22	132					0	0	0.00127121	0	0
ZNF582	147948	broad.mit.edu	37	19	56896043	56896043	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:56896043A>G	ENST00000301310.4	-	5	901	c.743T>C	c.(742-744)gTt>gCt	p.V248A	ZNF582_ENST00000586929.1_Missense_Mutation_p.V248A	NM_144690.1	NP_653291.1	Q96NG8	ZN582_HUMAN	zinc finger protein 582	248					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)		ACCAGTATGAACTCTCTGATG	0.378000													9	42					0	0	0.000274275	0	0
STK36	27148	broad.mit.edu	37	2	219559038	219559038	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:219559038C>T	ENST00000295709.3	+	20	2667	c.2388C>T	c.(2386-2388)gtC>gtT	p.V796V	STK36_ENST00000440309.1_Silent_p.V796V|STK36_ENST00000392105.3_Silent_p.V796V|STK36_ENST00000392106.2_Silent_p.V796V	NM_015690.4	NP_056505.2	Q9NRP7	STK36_HUMAN	serine/threonine kinase 36	796					cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		ATTCGCATGTCGTCTCTCTTG	0.463000													19	82					0	0	0.00188189	0	0
PSMD13	5719	broad.mit.edu	37	11	244428	244428	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:244428C>T	ENST00000532097.1	+	5	772	c.268C>T	c.(268-270)Cct>Tct	p.P90S	PSMD13_ENST00000352303.5_Missense_Mutation_p.P90S|PSMD13_ENST00000431206.2_Missense_Mutation_p.P92S	NM_002817.3	NP_002808.3	Q9UNM6	PSD13_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 13	90					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	protein binding			NS(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	10		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.79e-27)|Epithelial(43;4e-26)|OV - Ovarian serous cystadenocarcinoma(40;6.02e-21)|BRCA - Breast invasive adenocarcinoma(625;3.93e-05)|Lung(200;0.112)|LUSC - Lung squamous cell carcinoma(625;0.129)		TTTTCCAGATCCTAATGTGGC	0.398000													15	62					0	0	0.00074312	0	0
PREX2	80243	broad.mit.edu	37	8	68950452	68950452	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:68950452T>C	ENST00000288368.4	+	7	1041	c.764T>C	c.(763-765)aTt>aCt	p.I255T	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	255	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						TTACTGAAAATTTCTTCTGGA	0.388000													10	32					0	0	0.000442599	0	0
RASSF4	83937	broad.mit.edu	37	10	45480374	45480374	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:45480374C>T	ENST00000334940.6	+	6	648	c.514C>T	c.(514-516)Cgg>Tgg	p.R172W	RASSF4_ENST00000374417.2_3'UTR|RASSF4_ENST00000340258.4_Missense_Mutation_p.R163W|RASSF4_ENST00000472561.1_3'UTR			Q9H2L5	RASF4_HUMAN	Ras association (RalGDS/AF-6) domain family member 4	163					cell cycle|signal transduction		protein binding			NS(1)|endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						CCAGCGCATCCGGCGACACCG	0.667000													8	42					0	0	0.000442599	0	0
ASTN1	460	broad.mit.edu	37	1	176863776	176863776	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:176863776G>A	ENST00000367654.2	-	17	2899	c.2886C>T	c.(2884-2886)acC>acT	p.T962T	ASTN1_ENST00000424564.2_Silent_p.T954T|ASTN1_ENST00000361833.2_Silent_p.T954T|ASTN1_ENST00000367657.3_Silent_p.T954T			O14525	ASTN1_HUMAN	astrotactin 1	962					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GCTCAGCAGGGGTGTCAGGGC	0.612000													9	35					0	0	0.000673444	0	0
LPIN3	64900	broad.mit.edu	37	20	39978903	39978903	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:39978903C>T	ENST00000373257.3	+	7	1059	c.968C>T	c.(967-969)aCc>aTc	p.T323I		NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	323					fatty acid metabolic process	nucleus	phosphatidate phosphatase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				CCTCTCCACACCCCAGAGACA	0.612000													4	19					0	0	0.000602214	0	0
KIF5A	3798	broad.mit.edu	37	12	57961391	57961391	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:57961391G>A	ENST00000455537.2	+	8	978	c.704G>A	c.(703-705)gGg>gAg	p.G235E	KIF5A_ENST00000286452.5_Missense_Mutation_p.G146E	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	235	Kinesin-motor.|Microtubule-binding.				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						GACCTGGCAGGGAGTGAGAAG	0.527000													21	60					0	0	0.00278032	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21011408	21011408	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:21011408G>A	ENST00000381545.3	+	5	481	c.262G>A	c.(262-264)Gga>Aga	p.G88R	SLCO1B3_ENST00000545880.1_3'UTR|LST3_ENST00000381541.3_Missense_Mutation_p.G88R|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.G88R|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.G88R|LST3_ENST00000540229.1_Missense_Mutation_p.G88R|SLCO1B7_ENST00000554957.1_Missense_Mutation_p.G88R	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	88					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)					AAGTTACTTTGGATCTAAACT	0.313000													9	36					0	0	0.000274275	0	0
GPR142	350383	broad.mit.edu	37	17	72366722	72366722	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:72366722G>A	ENST00000335666.4	+	3	469	c.421G>A	c.(421-423)Gaa>Aaa	p.E141K		NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	141						cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						CCAGGAGTTTGAAAGCCACTG	0.637000													5	20					0	0	0.00116845	0	0
TMOD2	29767	broad.mit.edu	37	15	52060516	52060516	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:52060516G>A	ENST00000249700.4	+	3	405	c.184G>A	c.(184-186)Ggc>Agc	p.G62S	TMOD2_ENST00000435126.2_Missense_Mutation_p.G62S|TMOD2_ENST00000539962.2_Missense_Mutation_p.G18S	NM_001142885.1|NM_014548.3	NP_001136357.1|NP_055363.1	Q9NZR1	TMOD2_HUMAN	tropomodulin 2 (neuronal)	62					nervous system development	cytoplasm|cytoskeleton	actin binding|tropomyosin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16				all cancers(107;0.00435)		GGCAGCCACCGGCCCCTTTGA	0.542000													6	11					0	0	0.00198382	0	0
PFKFB2	5208	broad.mit.edu	37	1	207235357	207235357	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:207235357C>T	ENST00000367080.3	+	3	269	c.145C>T	c.(145-147)Cgg>Tgg	p.R49W	PFKFB2_ENST00000367079.2_Missense_Mutation_p.R49W|PFKFB2_ENST00000545806.1_Missense_Mutation_p.R16W|PFKFB2_ENST00000411990.2_5'UTR	NM_006212.2	NP_006203.2	O60825	F262_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2	49	6-phosphofructo-2-kinase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	20	Prostate(682;0.19)					TTTGCCAGCCCGGGGTAAAAC	0.458000													11	47					0	0	0.00136819	0	0
DGKK	139189	broad.mit.edu	37	X	50133404	50133404	+	RNA	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:50133404C>T	ENST00000376025.2	-	0	1907							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	p.W412C(1)|p.W412S(1)|p.W412F(1)		central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					TCATCACACTCCATCTGAAAT	0.388000													11	41					0	0	0.000978159	0	0
PKIG	11142	broad.mit.edu	37	20	43246937	43246937	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:43246937G>A	ENST00000372889.1	+	6	748	c.163G>A	c.(163-165)Gag>Aag	p.E55K	PKIG_ENST00000372892.3_Missense_Mutation_p.E55K|PKIG_ENST00000372882.3_Intron|PKIG_ENST00000372887.1_Intron|PKIG_ENST00000372886.1_Missense_Mutation_p.E55K|PKIG_ENST00000372894.3_Missense_Mutation_p.E55K|Z97053.1_ENST00000597250.1_Intron|PKIG_ENST00000349959.3_Missense_Mutation_p.E55K|PKIG_ENST00000372891.3_Missense_Mutation_p.E55K			Q9Y2B9	IPKG_HUMAN	protein kinase (cAMP-dependent, catalytic) inhibitor gamma	55							cAMP-dependent protein kinase inhibitor activity|protein binding			breast(1)|urinary_tract(1)	2		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.001)|COAD - Colon adenocarcinoma(18;0.00189)			AGGACAGGTGGAGGGAAGCGC	0.537000													22	124					0	0	0.00106085	0	0
AHSG	197	broad.mit.edu	37	3	186338548	186338548	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:186338548G>A	ENST00000411641.2	+	7	1152	c.933G>A	c.(931-933)cgG>cgA	p.R311R	AHSG_ENST00000273784.5_Silent_p.R312R			P02765	FETUA_HUMAN	alpha-2-HS-glycoprotein	311					acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development	extracellular space	cysteine-type endopeptidase inhibitor activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1)	22	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)		AGTTGCACCGGGCGCACTACG	0.637000													10	41					0	0	0.00185496	0	0
IGSF21	84966	broad.mit.edu	37	1	18703912	18703912	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:18703912G>A	ENST00000251296.1	+	9	1703	c.1320G>A	c.(1318-1320)acG>acA	p.T440T		NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21	440						extracellular region				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		CAAGAGGAACGGAGGACTCTA	0.483000													16	64					0	0	0.000958276	0	0
MYF5	4617	broad.mit.edu	37	12	81111096	81111096	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:81111096G>A	ENST00000228644.3	+	1	406	c.254G>A	c.(253-255)cGg>cAg	p.R85Q		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	85					muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						ATGGATCGGCGGAAGGCAGCC	0.627000													8	16					0	0	0.000274275	0	0
IDE	3416	broad.mit.edu	37	10	94228677	94228677	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:94228677G>A	ENST00000265986.6	-	19	2335	c.2279C>T	c.(2278-2280)cCa>cTa	p.P760L	IDE_ENST00000371581.5_Missense_Mutation_p.P205L|IDE_ENST00000496903.1_5'UTR	NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	760					beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CAGCTGACTTGGAAGGAGAGG	0.418000													12	227					0	0	0.00316338	0	0
ZNF860	344787	broad.mit.edu	37	3	32031661	32031661	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:32031661C>T	ENST00000360311.4	+	2	1639	c.1090C>T	c.(1090-1092)Cac>Tac	p.H364Y		NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	364					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|lung(4)|ovary(1)	8						CACTAGAATTCACACTGGAGA	0.413000													7	18					0	0	0.00307968	0	0
SLC46A3	283537	broad.mit.edu	37	13	29284912	29284912	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr13:29284912G>A	ENST00000266943.6	-	4	1498	c.1129C>T	c.(1129-1131)Cgt>Tgt	p.R377C	SLC46A3_ENST00000380814.4_Missense_Mutation_p.R377C	NM_001135919.1|NM_181785.3	NP_001129391.1|NP_861450.1	Q7Z3Q1	S46A3_HUMAN	solute carrier family 46, member 3	377					transmembrane transport	integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)	15		Lung SC(185;0.0367)		all cancers(112;0.159)		TCAGTCGAACGAACCACTTTT	0.388000													16	79					0	0	0.000566183	0	0
LRRC1	55227	broad.mit.edu	37	6	53785519	53785519	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:53785519G>A	ENST00000370888.1	+	13	1653	c.1376G>A	c.(1375-1377)cGa>cAa	p.R459Q	RP3-523E19.2_ENST00000474641.2_RNA	NM_018214.4	NP_060684.4	Q9BTT6	LRRC1_HUMAN	leucine rich repeat containing 1	459						cytoplasm|membrane				cervix(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Lung NSC(77;0.0147)			BRCA - Breast invasive adenocarcinoma(397;0.0745)		AGTGCGATCCGATTTGTGGAG	0.453000													18	24					0	0	0.000958276	0	0
HLA-DQA2	3118	broad.mit.edu	37	6	32713734	32713734	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:32713734G>A	ENST00000374940.3	+	3	600	c.498G>A	c.(496-498)aaG>aaA	p.K166K		NM_020056.4	NP_064440.1	P01906	DQA2_HUMAN	major histocompatibility complex, class II, DQ alpha 2	166	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TCCTCTCCAAGAGTGATCATT	0.512000													12	144					0	0	0.00136819	0	0
SLC26A9	115019	broad.mit.edu	37	1	205904914	205904914	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:205904914C>T	ENST00000367135.3	-	2	148	c.35G>A	c.(34-36)aGa>aAa	p.R12K	SLC26A9_ENST00000367134.2_Missense_Mutation_p.R12K|SLC26A9_ENST00000340781.4_Missense_Mutation_p.R12K	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	12						integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			GTATGCGGCTCTGTCTACCAC	0.557000													11	41					0	0	0.00136819	0	0
GLT6D1	360203	broad.mit.edu	37	9	138516029	138516029	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:138516029C>T	ENST00000371763.1	-	5	998	c.745G>A	c.(745-747)Gga>Aga	p.G249R		NM_182974.2	NP_892019.2	Q7Z4J2	GL6D1_HUMAN	glycosyltransferase 6 domain containing 1	249					carbohydrate metabolic process	integral to membrane	transferase activity, transferring hexosyl groups			endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)		TGAATAACTCCGTTCAGATAT	0.383000													21	65					0	0	0.00278032	0	0
LRP1B	53353	broad.mit.edu	37	2	141986896	141986896	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:141986896G>A	ENST00000389484.3	-	6	1677	c.706C>T	c.(706-708)Cat>Tat	p.H236Y		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	236					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)		TCCAGAGTATGAATTTCATTT	0.303000										TSP Lung(27;0.18)			12	80					0	0	0.00185496	0	0
SKAP1	8631	broad.mit.edu	37	17	46441166	46441166	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:46441166C>T	ENST00000336915.6	-	3	232	c.163G>A	c.(163-165)Gat>Aat	p.D55N	SKAP1_ENST00000584924.1_Missense_Mutation_p.D55N	NM_001075099.1|NM_003726.3	NP_001068567.1|NP_003717.3	Q86WV1	SKAP1_HUMAN	src kinase associated phosphoprotein 1	55					positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway	cytoplasm|nucleus|plasma membrane	antigen binding|protein kinase binding|SH2 domain binding			large_intestine(1)|lung(10)|prostate(2)|skin(4)|urinary_tract(1)	18						GGCTGAAAATCCCAATAGTAC	0.393000													9	55					0	0	0.000978159	0	0
GPR139	124274	broad.mit.edu	37	16	20043949	20043949	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:20043949C>T	ENST00000570682.1	-	2	470	c.170G>A	c.(169-171)aGa>aAa	p.R57K		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	57						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						CTTCTGTCTTCTTGCCACCAG	0.463000													10	39					0	0	0.00136819	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72137886	72137886	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:72137886C>T	ENST00000555818.1	+	8	2654	c.2306C>T	c.(2305-2307)cCt>cTt	p.P769L	SIPA1L1_ENST00000358550.2_Missense_Mutation_p.P769L|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.P244L|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.P769L	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	769	Rap-GAP.				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CCTCCCATTCCTAAAGGGGTC	0.463000													41	87					0	0	0.00285205	0	0
NSG1	27065	broad.mit.edu	37	4	4389470	4389470	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:4389470C>T	ENST00000421177.2	+	6	2105	c.114C>T	c.(112-114)ttC>ttT	p.F38F	NSG1_ENST00000513555.1_Silent_p.F38F|NSG1_ENST00000433139.2_Silent_p.F38F|NSG1_ENST00000505246.1_Silent_p.F38F|NSG1_ENST00000397958.1_Silent_p.F38F|NSG1_ENST00000506380.1_Silent_p.F38F|NSG1_ENST00000504171.1_Silent_p.F38F																							AGCTGCAGTTCCCGCCCCCGG	0.632000													5	17					0	0	0.000602214	0	0
KRT13	3860	broad.mit.edu	37	17	39661532	39661532	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:39661532C>T	ENST00000246635.3	-	1	317	c.271G>A	c.(271-273)Gac>Aac	p.D91N	KRT13_ENST00000336861.3_Missense_Mutation_p.D91N|KRT13_ENST00000587544.1_Missense_Mutation_p.D91N	NM_153490.2	NP_705694.2	P13646	K1C13_HUMAN	keratin 13	91	Gly-rich.|Head.				epidermis development	intermediate filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				gcaccaaagtcaacaaagcca	0.582000													8	21					0	0	0.00307968	0	0
ZNF230	7773	broad.mit.edu	37	19	44515568	44515568	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:44515568G>C	ENST00000429154.2	+	5	1605	c.1377G>C	c.(1375-1377)agG>agC	p.R459S		NM_006300.3	NP_006291.2	Q9UIE0	ZN230_HUMAN	zinc finger protein 230	459					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22		Prostate(69;0.0352)				GCTACAAGAGGCGCTTGAATC	0.343000													7	17					0	0	0.00307968	0	0
THBS2	7058	broad.mit.edu	37	6	169648950	169648950	+	Silent	SNP	G	G	A	rs139930955	by1000genomes	TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:169648950G>A	ENST00000366787.3	-	4	420	c.171C>T	c.(169-171)ttC>ttT	p.F57F		NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	57	Heparin-binding (Potential).|TSP N-terminal.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		CAAAGCGCACGAAGCGGTAAG	0.592000													5	14					0	0	0.000602214	0	0
SLC25A24	29957	broad.mit.edu	37	1	108735132	108735132	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:108735132G>A	ENST00000370041.4	-	1	308	c.112C>T	c.(112-114)Cta>Tta	p.L38L	SLC25A24_ENST00000565488.1_Intron	NM_213651.2	NP_998816.1	Q6NUK1	SCMC1_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24	57	EF-hand 1.				transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211)		Colorectal(144;0.0345)|Lung(183;0.0971)|COAD - Colon adenocarcinoma(174;0.127)|Epithelial(280;0.134)		GCTTCCTCTAGAGATTGAATG	0.522000													34	99					0	0	0.00375469	0	0
ZNF572	137209	broad.mit.edu	37	8	125989788	125989788	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:125989788C>T	ENST00000319286.5	+	3	1432	c.1278C>T	c.(1276-1278)acC>acT	p.T426T		NM_152412.2	NP_689625.2	Q7Z3I7	ZN572_HUMAN	zinc finger protein 572	426					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			AGAGTTCCACCCTGGTGATTC	0.438000										HNSCC(60;0.17)			18	56					0	0	0.00074312	0	0
OLFM3	118427	broad.mit.edu	37	1	102296230	102296230	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:102296230G>A	ENST00000370103.4	-	3	583	c.370C>T	c.(370-372)Cag>Tag	p.Q124*	OLFM3_ENST00000536598.1_Nonsense_Mutation_p.Q49*|OLFM3_ENST00000359814.3_Nonsense_Mutation_p.Q144*|OLFM3_ENST00000338858.5_Nonsense_Mutation_p.Q144*|OLFM3_ENST00000462354.1_5'UTR	NM_058170.2	NP_477518.2	Q96PB7	NOE3_HUMAN	olfactomedin 3	144						extracellular region				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		AAACCTACCTGAAAATGCTTG	0.418000													35	86					0	0	0.00321405	0	0
CCDC132	55610	broad.mit.edu	37	7	92978030	92978030	+	Silent	SNP	T	T	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:92978030T>C	ENST00000544910.1	+	25	2345	c.2125T>C	c.(2125-2127)Ttg>Ctg	p.L709L	CCDC132_ENST00000305866.5_Silent_p.L739L|CCDC132_ENST00000535481.1_Silent_p.L459L|CCDC132_ENST00000474412.1_3'UTR|CCDC132_ENST00000541136.1_Silent_p.L550L	NM_001257998.1	NP_001244927.1	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	739										endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			TAGGGTATTCTTGGCTGAACA	0.408000													13	74					0	0	0.000566183	0	0
NPY4R	5540	broad.mit.edu	37	10	47087590	47087590	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:47087590G>A	ENST00000374312.1	+	3	1226	c.807G>A	c.(805-807)gtG>gtA	p.V269V	NPY4R_ENST00000395716.1_Silent_p.V269V	NM_005972.4	NP_005963.3			neuropeptide Y receptor Y4																		TGCTGGTGGTGATGGTGGTGG	0.607000													6	37					0	0	0.00198382	0	0
KRT37	8688	broad.mit.edu	37	17	39580746	39580746	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:39580746G>A	ENST00000225550.3	-	1	29	c.30C>T	c.(28-30)tgC>tgT	p.C10C	AC003958.2_ENST00000432258.1_RNA	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN	keratin 37	10	Head.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				AACCCAGAGGGCATGAGGAGG	0.572000													11	61					0	0	0.00316338	0	0
CCDC24	149473	broad.mit.edu	37	1	44461751	44461751	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:44461751G>A	ENST00000372318.3	+	9	1014	c.843G>A	c.(841-843)tgG>tgA	p.W281*	CCDC24_ENST00000486064.1_3'UTR|SLC6A9_ENST00000372307.3_Intron|SLC6A9_ENST00000372306.3_Intron	NM_152499.1	NP_689712.1	Q8N4L8	CCD24_HUMAN	coiled-coil domain containing 24	281										endometrium(3)|large_intestine(2)|lung(3)|stomach(1)	9	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				CCCACCGCTGGGGACGGCAGC	0.672000													9	15					0	0	0.000274275	0	0
LY6G6D	58530	broad.mit.edu	37	6	31675736	31675736	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:31675736G>A	ENST00000503322.1	+	3	474	c.471G>A	c.(469-471)gtG>gtA	p.V157V	LY6G6F_ENST00000556581.1_Silent_p.V157V|LY6G6F_ENST00000375832.4_Silent_p.V157V|XXbac-BPG32J3.20_ENST00000461287.1_Intron																							TGGACTCTGTGACCTGGCAGG	0.617000													73	189					0	0	0.00361006	0	0
BPIFB6	128859	broad.mit.edu	37	20	31631162	31631162	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:31631162G>A	ENST00000349552.1	+	14	1318	c.1318G>A	c.(1318-1320)Gac>Aac	p.D440N		NM_174897.2	NP_777557.1	Q8NFQ5	BPIL3_HUMAN	BPI fold containing family B, member 6	440						extracellular region	lipid binding										GGCTGAGCTGGACATAGTAGA	0.507000													21	108					0	0	0.00278032	0	0
MUC16	94025	broad.mit.edu	37	19	9007840	9007840	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:9007840G>A	ENST00000397910.4	-	42	39587	c.39384C>T	c.(39382-39384)ttC>ttT	p.F13128F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13130					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						TCCGATGGGTGAAACCTGCAT	0.522000													10	19					0	0	0.000673444	0	0
UGT1A5	54579	broad.mit.edu	37	2	234622120	234622120	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:234622120G>A	ENST00000373414.3	+	1	483	c.483G>A	c.(481-483)ctG>ctA	p.L161L	UGT1A6_ENST00000305139.6_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000480628.1_Intron	NM_019078.1	NP_061951.1														cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645)		CGGCGGTGCTGGCTAAGTACC	0.493000													22	102					0	0	0.00278032	0	0
CCDC38	120935	broad.mit.edu	37	12	96292215	96292215	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:96292215G>A	ENST00000344280.3	-	7	1119	c.562C>T	c.(562-564)Caa>Taa	p.Q188*	SNRPF_ENST00000552085.1_Intron	NM_182496.2	NP_872302.2	Q502W7	CCD38_HUMAN	coiled-coil domain containing 38	188										breast(1)|endometrium(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GCTGTCATTTGGAGTTTGTTT	0.418000													33	131					0	0	0.00327116	0	0
HYDIN	54768	broad.mit.edu	37	16	70926280	70926280	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:70926280G>A	ENST00000393567.2	-	56	9551	c.9401C>T	c.(9400-9402)cCt>cTt	p.P3134L		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3134										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)				GCGCAGAACAGGCTGGTGCTC	0.483000													9	25					0	0	0.00136819	0	0
KIAA0100	9703	broad.mit.edu	37	17	26947568	26947568	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:26947568T>A	ENST00000528896.2	-	29	5397	c.5323A>T	c.(5323-5325)Att>Ttt	p.I1775F	KIAA0100_ENST00000389003.3_Missense_Mutation_p.I1632F|KIAA0100_ENST00000544884.1_Missense_Mutation_p.I1632F	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	1775						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)					TTGTTGACAATGTCCAGGATC	0.502000													10	24					0	0	0.000442599	0	0
SORCS2	57537	broad.mit.edu	37	4	7726961	7726961	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:7726961C>T	ENST00000507866.2	+	20	2801	c.2692C>T	c.(2692-2694)Ccc>Tcc	p.P898S	SORCS2_ENST00000329016.9_Missense_Mutation_p.P726S	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	898						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						TGTGCTGCTTCCCTTGAACCC	0.622000													8	16					0	0	0.00307968	0	0
LPL	4023	broad.mit.edu	37	8	19805727	19805727	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:19805727C>T	ENST00000311322.8	+	2	595	c.125C>T	c.(124-126)gCc>gTc	p.A42V	LPL_ENST00000521994.1_3'UTR	NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN	lipoprotein lipase	42					fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle	heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083)	AGTAAATTTGCCCTAAGGACC	0.438000													6	57					0	0	0.00307968	0	0
SBK1	388228	broad.mit.edu	37	16	28330371	28330371	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:28330371C>T	ENST00000341901.4	+	3	1071	c.282C>T	c.(280-282)ttC>ttT	p.F94F		NM_001024401.2	NP_001019572.1	Q52WX2	SBK1_HUMAN	SH3 domain binding kinase 1	94	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			kidney(1)|lung(3)|ovary(1)	5						TGAAGAACTTCCTACGGGAGG	0.522000													19	58					0	0	0.00229938	0	0
TNC	3371	broad.mit.edu	37	9	117810801	117810801	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:117810801G>A	ENST00000350763.4	-	16	5001	c.4590C>T	c.(4588-4590)ccC>ccT	p.P1530P	TNC_ENST00000341037.4_Intron|TNC_ENST00000542877.1_Intron|TNC_ENST00000423613.2_Intron|TNC_ENST00000537320.1_Intron|TNC_ENST00000535648.1_Intron|TNC_ENST00000481475.1_5'UTR|TNC_ENST00000345230.3_Intron|TNC_ENST00000346706.3_Intron|TNC_ENST00000340094.3_Silent_p.P1166P	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1530	Fibronectin type-III 11.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						TTTCCAGAAGGGGCAGGGCCT	0.483000													4	25					0	0	0.000602214	0	0
ATP6V1E2	90423	broad.mit.edu	37	2	46739428	46739428	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:46739428G>A	ENST00000306448.4	-	2	1536	c.423C>T	c.(421-423)ctC>ctT	p.L141L	ATP6V1E2_ENST00000522587.1_Silent_p.L141L	NM_080653.3	NP_542384.1	Q96A05	VATE2_HUMAN	ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E2	141					cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting two-sector ATPase complex, catalytic domain	proton-transporting ATPase activity, rotational mechanism	p.L141L(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.151)			CCACCAGGAGGAGGTCTTGTG	0.547000													8	50					0	0	0.00307968	0	0
ATP5B	506	broad.mit.edu	37	12	57038721	57038721	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:57038721G>A	ENST00000262030.3	-	3	379	c.329C>T	c.(328-330)aCt>aTt	p.T110I	ATP5B_ENST00000552919.1_Missense_Mutation_p.T110I	NM_001686.3	NP_001677.2	P06576	ATPB_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide	110					angiogenesis|ATP hydrolysis coupled proton transport|regulation of intracellular pH|respiratory electron transport chain	cell surface|mitochondrial nucleoid|mitochondrial proton-transporting ATP synthase, catalytic core|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|hydrogen-exporting ATPase activity, phosphorylative mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CATAGCAATAGTCCTTACTGT	0.443000													56	67					0	0	0.00361006	0	0
LAMB1	3912	broad.mit.edu	37	7	107599799	107599799	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:107599799G>A	ENST00000393561.1	-	18	2841	c.2657C>T	c.(2656-2658)cCa>cTa	p.P886L	LAMB1_ENST00000222399.6_Missense_Mutation_p.P862L			P07942	LAMB1_HUMAN	laminin, beta 1	862	Laminin EGF-like 8.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTGGCAACTTGGAAAGCCCCA	0.582000													8	81					0	0	0.000274275	0	0
GRM3	2913	broad.mit.edu	37	7	86468214	86468214	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:86468214G>A	ENST00000361669.2	+	4	2483	c.1384G>A	c.(1384-1386)Gga>Aga	p.G462R	GRM3_ENST00000536043.1_Missense_Mutation_p.G334R|GRM3_ENST00000394720.2_Intron|GRM3_ENST00000546348.1_Missense_Mutation_p.G54R|GRM3_ENST00000439827.1_Intron	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	462					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	TTTTGGAGATGGAATGGGGCG	0.378000													14	11					0	0	0.000566183	0	0
CXorf66	347487	broad.mit.edu	37	X	139038647	139038647	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:139038647G>A	ENST00000370540.1	-	3	517	c.494C>T	c.(493-495)tCc>tTc	p.S165F		NM_001013403.2	NP_001013421.1	Q5JRM2	CX066_HUMAN	chromosome X open reading frame 66	165	Ser-rich.					integral to membrane				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1)	26						TGATGACTTGGATGACCTTTT	0.393000													60	178					0	0	0.00361006	0	0
NRCAM	4897	broad.mit.edu	37	7	107790410	107790410	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:107790410C>T	ENST00000379028.3	-	33	4330	c.3860G>A	c.(3859-3861)gGa>gAa	p.G1287E	NRCAM_ENST00000413765.2_Missense_Mutation_p.G1163E|NRCAM_ENST00000379024.4_Missense_Mutation_p.G1175E|NRCAM_ENST00000522550.2_5'UTR|NRCAM_ENST00000425651.2_Missense_Mutation_p.G1287E|NRCAM_ENST00000351718.4_Missense_Mutation_p.G1166E			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	1287					angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						GCTTTCGTTTCCTTCAGCCGG	0.418000													30	85					0	0	0.00209593	0	0
UBE2D3	7323	broad.mit.edu	37	4	103723747	103723747	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:103723747G>A	ENST00000453744.2	-	5	682	c.169C>T	c.(169-171)Cct>Tct	p.P57S	UBE2D3_ENST00000343106.5_Missense_Mutation_p.P57S|UBE2D3_ENST00000338145.3_Missense_Mutation_p.P57S|UBE2D3_ENST00000502404.1_Missense_Mutation_p.P28S|UBE2D3_ENST00000350435.7_Missense_Mutation_p.P51S|UBE2D3_ENST00000505207.1_Missense_Mutation_p.P28S|UBE2D3_ENST00000321805.7_Missense_Mutation_p.P57S|UBE2D3_ENST00000507845.1_Missense_Mutation_p.P28S|UBE2D3_ENST00000394804.2_Missense_Mutation_p.P57S|UBE2D3_ENST00000357194.6_Missense_Mutation_p.P59S|UBE2D3_ENST00000394801.4_Missense_Mutation_p.P57S|UBE2D3_ENST00000349311.8_Missense_Mutation_p.P57S|UBE2D3_ENST00000394803.5_Missense_Mutation_p.P57S|UBE2D3_ENST00000504211.1_Missense_Mutation_p.P28S	NM_181891.1	NP_871620.1	P61077	UB2D3_HUMAN	ubiquitin-conjugating enzyme E2D 3	57					apoptosis|BMP signaling pathway|DNA repair|negative regulation of type I interferon production|proteasomal ubiquitin-dependent protein catabolic process|protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein monoubiquitination|transforming growth factor beta receptor signaling pathway	endosome membrane|plasma membrane	ATP binding|protein binding|ubiquitin-protein ligase activity			kidney(1)|lung(3)|skin(1)	5		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.13e-08)		TAGTCTGTAGGAAAATGAATT	0.318000													13	57					0	0	0.00074312	0	0
E2F8	79733	broad.mit.edu	37	11	19251093	19251093	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:19251093C>T	ENST00000527884.1	-	10	2033	c.1801G>A	c.(1801-1803)Gaa>Aaa	p.E601K	E2F8_ENST00000250024.4_Missense_Mutation_p.E601K|RP11-428C19.4_ENST00000527978.1_RNA	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	601					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GAGCCTCTTTCTCCAGCTGGC	0.517000													25	73					0	0	0.00332997	0	0
STARD6	147323	broad.mit.edu	37	18	51863622	51863622	+	Splice_Site	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:51863622C>T	ENST00000581310.1	-	6	514		c.e6-1		STARD6_ENST00000580990.2_Splice_Site|STARD6_ENST00000307844.3_Splice_Site			P59095	STAR6_HUMAN	StAR-related lipid transfer (START) domain containing 6						lipid transport		lipid binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)	8				Colorectal(16;0.021)|READ - Rectum adenocarcinoma(59;0.188)		AACACGATATCTACAGTTAAC	0.318000													5	61					0	0	0.000602214	0	0
PPP1R3C	5507	broad.mit.edu	37	10	93390174	93390174	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:93390174T>A	ENST00000238994.5	-	2	548	c.464A>T	c.(463-465)aAc>aTc	p.N155I		NM_005398.5	NP_005389.1	Q9UQK1	PPR3C_HUMAN	protein phosphatase 1, regulatory subunit 3C	155	CBM21.|Interaction with EPM2A.						protein serine/threonine phosphatase activity			breast(1)|endometrium(1)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(1)	12		Colorectal(252;0.235)				ACAGACAAAGTTCTTCTGAAA	0.423000													12	48					0	0	0.00244969	0	0
UBD	10537	broad.mit.edu	37	6	29524025	29524025	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:29524025G>A	ENST00000377050.4	-	2	353	c.130C>T	c.(130-132)Cct>Tct	p.P44S	GABBR1_ENST00000355973.3_3'UTR	NM_006398.3	NP_006389.2	O15205	UBD_HUMAN	ubiquitin D	44	Ubiquitin 1.				aggresome assembly|myeloid dendritic cell differentiation|negative regulation of mitotic prometaphase|positive regulation of apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	aggresome|cytoplasm|nucleus	proteasome binding	p.P44S(1)		kidney(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						TCCTGCACAGGAACCTTGGTC	0.468000													12	56					0	0	0.00185496	0	0
ATRIP	84126	broad.mit.edu	37	3	48501565	48501565	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:48501565C>T	ENST00000412052.1	+	8	1295	c.833C>T	c.(832-834)tCc>tTc	p.S278F	ATRIP_ENST00000357105.6_Missense_Mutation_p.S244F|ATRIP_ENST00000346691.4_Missense_Mutation_p.S371F|ATRIP_ENST00000320211.3_Missense_Mutation_p.S371F	NM_001271023.1	NP_001257952.1	Q8WXE1	ATRIP_HUMAN	ATR interacting protein	371					DNA damage checkpoint|DNA repair|DNA replication	nucleoplasm	protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)	22				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGGTCATTTTCCCTCTCAGCC	0.512000								Other conserved DNA damage response genes					6	46					0	0	0.00307968	0	0
SLC44A5	204962	broad.mit.edu	37	1	75693468	75693468	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:75693468C>T	ENST00000370855.5	-	13	1041	c.928G>A	c.(928-930)Ggg>Agg	p.G310R	SLC44A5_ENST00000370859.3_Missense_Mutation_p.G310R|SLC44A5_ENST00000535611.1_Missense_Mutation_p.G180R	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	310						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						GTCTGAATCCCGATGTCATAG	0.333000													12	13					0	0	0.000978159	0	0
ZFHX4	79776	broad.mit.edu	37	8	77767954	77767954	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:77767954C>T	ENST00000521891.2	+	10	9245	c.8797C>T	c.(8797-8799)Cga>Tga	p.R2933*	ZFHX4_ENST00000518282.1_Nonsense_Mutation_p.R2907*|ZFHX4_ENST00000050961.6_Nonsense_Mutation_p.R2888*|ZFHX4_ENST00000455469.2_Nonsense_Mutation_p.R2888*	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2888						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CAAGCGTTTTCGAACGCAAAT	0.468000										HNSCC(33;0.089)			9	48					0	0	0.000274275	0	0
SCRN1	9805	broad.mit.edu	37	7	29976306	29976306	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:29976306G>A	ENST00000426154.1	-	6	947	c.771C>T	c.(769-771)acC>acT	p.T257T	SCRN1_ENST00000242059.5_Silent_p.T257T|SCRN1_ENST00000409497.1_Silent_p.T257T|SCRN1_ENST00000416113.2_Silent_p.T83T	NM_001145513.1	NP_001138985.1	Q12765	SCRN1_HUMAN	secernin 1	257					exocytosis|proteolysis	cytoplasm|nuclear membrane	dipeptidase activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2)	25						TGTCCCGTAAGGTGTTCATCA	0.512000													19	119					0	0	0.00229938	0	0
COL11A2	1302	broad.mit.edu	37	6	33136775	33136775	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:33136775C>T	ENST00000341947.2	-	52	4036	c.3809G>A	c.(3808-3810)gGt>gAt	p.G1270D	COL11A2_ENST00000374712.1_Missense_Mutation_p.G1189D|COL11A2_ENST00000395197.1_Missense_Mutation_p.G1210D|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000361917.1_Missense_Mutation_p.G1163D|COL11A2_ENST00000374708.4_Missense_Mutation_p.G1184D|COL11A2_ENST00000374714.1_Missense_Mutation_p.G1244D|COL11A2_ENST00000357486.1_Missense_Mutation_p.G1249D|COL11A2_ENST00000374713.1_Missense_Mutation_p.G1223D	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1270	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						ACCAGGAAAACCAACAGGACC	0.602000													7	54					0	0	0.00307968	0	0
PCDHA2	56146	broad.mit.edu	37	5	140174570	140174570	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:140174570G>A	ENST00000526136.1	+	1	21	c.21G>A	c.(19-21)agG>agA	p.R7R	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Silent_p.R7R|PCDHA2_ENST00000520672.2_Silent_p.R7R|PCDHA1_ENST00000394633.3_Intron	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTATCAGAAGGGGCCGAGGGG	0.522000													23	41					0	0	0.000878237	0	0
GPR45	11250	broad.mit.edu	37	2	105858315	105858315	+	Translation_Start_Site	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:105858315G>A	ENST00000258456.1	+	0	116					NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45							integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						GTCTCTCCACGATGGCCTGCA	0.607000													13	14					0	0	0.00316338	0	0
DNAH5	1767	broad.mit.edu	37	5	13841988	13841988	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:13841988G>A	ENST00000265104.4	-	33	5401	c.5297C>T	c.(5296-5298)tCc>tTc	p.S1766F		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1766	Stem (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)					CTCTTGAGAGGAAATTGACAG	0.333000									Kartagener syndrome				49	38					0	0	0.00361006	0	0
PDE6C	5146	broad.mit.edu	37	10	95372538	95372538	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:95372538T>G	ENST00000371447.3	+	1	194	c.56T>G	c.(55-57)tTt>tGt	p.F19C		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	19					visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				AACCCTCAGTTTGCCAAGGAG	0.522000													17	31					0	0	0.00188189	0	0
PCDHB11	56125	broad.mit.edu	37	5	140579977	140579977	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:140579977C>T	ENST00000354757.3	+	1	630	c.630C>T	c.(628-630)ttC>ttT	p.F210F	PCDHB11_ENST00000536699.1_Intron	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		210	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGCTCAGTTTCATCCTCTCTG	0.493000													12	43					0	0	0.000978159	0	0
LRCH4	4034	broad.mit.edu	37	7	100175158	100175158	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:100175158G>A	ENST00000310300.6	-	10	1192	c.1140C>T	c.(1138-1140)agC>agT	p.S380S	LRCH4_ENST00000497245.1_5'UTR	NM_002319.3	NP_002310.2	O75427	LRCH4_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 4	380					nervous system development	PML body	protein binding			NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTGCCCCAGGGCTTAATTCGG	0.672000													5	54					0	0	0.00198382	0	0
KRT16P6	353194	broad.mit.edu	37	17	16725774	16725774	+	RNA	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:16725774G>A	ENST00000417510.1	-	0	119																											TCATGGAGCTGGAGGAGGTGA	0.667000													4	4					0	0	0.000602214	0	0
RP1	6101	broad.mit.edu	37	8	55539065	55539065	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:55539065G>A	ENST00000220676.1	+	4	2771	c.2623G>A	c.(2623-2625)Gat>Aat	p.D875N		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	875					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)			ACGTAAAGGGGATAAAGTGAA	0.358000													18	62					0	0	0.000958276	0	0
DEFB119	245932	broad.mit.edu	37	20	29976964	29976964	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:29976964C>T	ENST00000376315.2	-	2	130	c.131G>A	c.(130-132)cGa>cAa	p.R44Q	DEFB119_ENST00000376321.3_Intron|DEFB119_ENST00000492344.1_Intron|DEFB119_ENST00000339144.3_Intron	NM_001271209.1|NM_153323.4	NP_001258138.1|NP_697018.1	Q8N690	DB119_HUMAN	defensin, beta 119	50					defense response to bacterium	extracellular region		p.R44Q(1)		large_intestine(2)|lung(1)|prostate(1)	4	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			TTTACGATTTCGGCAGCGTAT	0.453000													34	65					0	0	0.00428921	0	0
DOPEY2	9980	broad.mit.edu	37	21	37583878	37583878	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr21:37583878G>A	ENST00000399151.3	+	6	794	c.709G>A	c.(709-711)Gac>Aac	p.D237N	DOPEY2_ENST00000492760.1_3'UTR	NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	237					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CTCCCTGTTGGACTCAAATGT	0.393000													24	49					0	0	0.00127121	0	0
KBTBD2	25948	broad.mit.edu	37	7	32909889	32909889	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:32909889G>A	ENST00000304056.4	-	4	1639	c.940C>T	c.(940-942)Cct>Tct	p.P314S	AVL9_ENST00000404479.1_Intron	NM_015483.2	NP_056298.2	Q8IY47	KBTB2_HUMAN	kelch repeat and BTB (POZ) domain containing 2	314										endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|urinary_tract(1)	17			GBM - Glioblastoma multiforme(11;0.0499)			TCATTATCAGGAGTTACAACG	0.408000													13	81					0	0	0.00185496	0	0
EXTL3	2137	broad.mit.edu	37	8	28575121	28575121	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:28575121C>T	ENST00000220562.4	+	3	2447	c.1545C>T	c.(1543-1545)ctC>ctT	p.L515L	EXTL3_ENST00000523149.1_Silent_p.L131L|EXTL3_ENST00000519886.1_Intron	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	515						integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		GCCGCTTTCTCTGGGAGACTT	0.552000													17	50					0	0	0.00152264	0	0
LRRC39	127495	broad.mit.edu	37	1	100621813	100621813	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:100621813G>A	ENST00000370138.1	-	7	772	c.574C>T	c.(574-576)Cct>Tct	p.P192S	LRRC39_ENST00000342895.3_Missense_Mutation_p.P192S|LRRC39_ENST00000370137.1_Missense_Mutation_p.P192S	NM_001256385.1	NP_001243314.1	Q96DD0	LRC39_HUMAN	leucine rich repeat containing 39	192										endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	13		all_epithelial(167;0.000542)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.0826)|all cancers(265;0.135)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		ACAGCAAGAGGGATTGTAGTA	0.388000													19	27					0	0	0.00121646	0	0
ZNF518A	9849	broad.mit.edu	37	10	97919819	97919819	+	RNA	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:97919819G>A	ENST00000534948.1	+	0	4597							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		AACTTCAATAGAAAAAAGACT	0.343000													9	40					0	0	0.000978159	0	0
TRBV10-2	28584	broad.mit.edu	37	7	142206786	142206786	+	RNA	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:142206786G>A	ENST00000426318.2	-	0	119																											GGCTCTGGGTGATTCCAGCAT	0.488000													9	26					0	0	0.000274275	0	0
MRPS2	51116	broad.mit.edu	37	9	138395439	138395439	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:138395439C>T	ENST00000371785.1	+	5	560	c.351C>T	c.(349-351)gaC>gaT	p.D117D	RP11-426A6.5_ENST00000415062.1_RNA|MRPS2_ENST00000488610.1_3'UTR|MRPS2_ENST00000241600.5_Silent_p.D117D			Q9Y399	RT02_HUMAN	mitochondrial ribosomal protein S2	117					translation	mitochondrion|small ribosomal subunit	structural constituent of ribosome			large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(145;1.46e-53)|Epithelial(140;2.04e-47)|all cancers(34;1.23e-42)		ACATCATCGACCTGGAACAGA	0.587000													6	19					0	0	0.00307968	0	0
XIRP1	165904	broad.mit.edu	37	3	39225965	39225965	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:39225965G>A	ENST00000340369.3	-	2	5200	c.4972C>T	c.(4972-4974)Cgg>Tgg	p.R1658W	XIRP1_ENST00000421646.1_Missense_Mutation_p.R341W|XIRP1_ENST00000396251.1_3'UTR	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1658							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GGTAAAACCCGAGGAGGGCAC	0.532000													20	36					0	0	0.000958276	0	0
MATR3	9782	broad.mit.edu	37	5	138661120	138661120	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:138661120G>C	ENST00000394800.2	+	17	2833	c.2284G>C	c.(2284-2286)Gaa>Caa	p.E762Q	MATR3_ENST00000502499.1_Intron|MATR3_ENST00000509990.1_Intron|MATR3_ENST00000503811.1_Intron|MATR3_ENST00000394805.3_Intron|MATR3_ENST00000510056.1_Intron|MATR3_ENST00000361059.2_Intron|MATR3_ENST00000504203.1_Intron|MATR3_ENST00000502929.1_Missense_Mutation_p.E762Q			P43243	MATR3_HUMAN	matrin 3	715						nuclear inner membrane|nuclear matrix	nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding			breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TGGTTTGGTTGAAATTAAGGT	0.398000													9	47					0	0	0.000978159	0	0
MYO1F	4542	broad.mit.edu	37	19	8609209	8609209	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:8609209C>T	ENST00000338257.8	-	14	1763	c.1496G>A	c.(1495-1497)gGc>gAc	p.G499D		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	499	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						GATGACGAAGCCGGCGCTCCA	0.687000													11	36					0	0	0.00185496	0	0
SRGAP3	9901	broad.mit.edu	37	3	9055491	9055491	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:9055491G>A	ENST00000383836.3	-	16	2276	c.1849C>T	c.(1849-1851)Caa>Taa	p.Q617*	SRGAP3_ENST00000360413.3_Nonsense_Mutation_p.Q593*	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	617	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		AGGATTTGTTGGATCTGGTGC	0.532000			T	RAF1	pilocytic astrocytoma								11	32					0	0	0.00185496	0	0
OR51B2	79345	broad.mit.edu	37	11	5345387	5345387	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:5345387G>A	ENST00000328813.2	-	1	195	c.141C>T	c.(139-141)atC>atT	p.I47I	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron	NM_033180.4	NP_149420.4	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B, member 2	47					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGTCATGCTTGATGAGGTAGA	0.522000													7	27					0	0	0.00307968	0	0
OR2T12	127064	broad.mit.edu	37	1	248458248	248458248	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:248458248G>A	ENST00000317996.1	-	1	632	c.633C>T	c.(631-633)ctC>ctT	p.L211L		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	211					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			AGGACAGGATGAGGGAAAAGG	0.547000													13	42					0	0	0.00244969	0	0
ELMO1	9844	broad.mit.edu	37	7	37283994	37283994	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:37283994C>T	ENST00000310758.4	-	7	1063	c.416G>A	c.(415-417)cGa>cAa	p.R139Q	ELMO1_ENST00000448602.1_Missense_Mutation_p.R139Q|ELMO1_ENST00000442504.1_Missense_Mutation_p.R139Q	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	139					actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						TTTCTGGTATCGCCTGCAAAA	0.343000													22	164					0	0	0.000720815	0	0
CORO1B	57175	broad.mit.edu	37	11	67205905	67205905	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:67205905C>A	ENST00000393893.1	-	12	1515	c.1412G>T	c.(1411-1413)gGc>gTc	p.G471V	CORO1B_ENST00000341356.5_Missense_Mutation_p.G471V|CORO1B_ENST00000539724.1_5'UTR	NM_001018070.2	NP_001018080.1	Q9BR76	COR1B_HUMAN	coronin, actin binding protein, 1B	471					actin cytoskeleton organization	actin cytoskeleton|cytoplasm	actin filament binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			GATGCGGTCGCCCTGCTCCTT	0.692000													5	28					0.000602214	0.00174187	0.000602214	1	0
HLA-G	3135	broad.mit.edu	37	6	29797461	29797461	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:29797461C>T	ENST00000428701.1	+	5	1064	c.886C>T	c.(886-888)Ctg>Ttg	p.L296L	HLA-G_ENST00000376828.2_Silent_p.L301L|HLA-G_ENST00000360323.6_Silent_p.L296L|HLA-G_ENST00000376815.3_Intron|HLA-G_ENST00000376818.3_Silent_p.L204L	NM_002127.5	NP_002118.1	P17693	HLAG_HUMAN	major histocompatibility complex, class I, G	296	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						GCCCCTCATGCTGAGATGGAG	0.582000													21	105					0	0	0.00278032	0	0
PTCHD2	57540	broad.mit.edu	37	1	11585300	11585300	+	Silent	SNP	C	C	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:11585300C>G	ENST00000294484.6	+	12	2682	c.2544C>G	c.(2542-2544)tcC>tcG	p.S848S	PTCHD2_ENST00000389575.3_Silent_p.S848S	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	848					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		ACAGGCTCTCCCTCAATGCCA	0.592000													11	50					0	0	0.00136819	0	0
OPRL1	4987	broad.mit.edu	37	20	62729677	62729677	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:62729677C>T	ENST00000349451.3	+	6	1050	c.638C>T	c.(637-639)cCg>cTg	p.P213L	OPRL1_ENST00000336866.2_Missense_Mutation_p.P213L|OPRL1_ENST00000355631.4_Missense_Mutation_p.P213L	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN	opiate receptor-like 1	213					elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	protein binding|X-opioid receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					TACTGGGGCCCGGTGTTTGCC	0.617000													6	26					0	0	0.00116845	0	0
L3HYPDH	112849	broad.mit.edu	37	14	59942848	59942848	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:59942848C>T	ENST00000247194.4	-	3	876	c.763G>A	c.(763-765)Gaa>Aaa	p.E255K	L3HYPDH_ENST00000487285.1_Missense_Mutation_p.E84K	NM_144581.1	NP_653182.1			L-3-hydroxyproline dehydratase (trans-)																		GTGGTTGGTTCCTTGGTATAA	0.333000													21	57					0	0	0.000720815	0	0
USH2A	7399	broad.mit.edu	37	1	216373131	216373131	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:216373131C>T	ENST00000366943.2	-	17	4035	c.3649G>A	c.(3649-3651)Gat>Aat	p.D1217N	USH2A_ENST00000366942.3_Missense_Mutation_p.D1217N|RP5-1099E6.3_ENST00000420867.1_RNA|USH2A_ENST00000307340.3_Missense_Mutation_p.D1217N			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1217	Fibronectin type-III 2.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.D1217N(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ACAGAAAAATCGTACTTGGCA	0.517000										HNSCC(13;0.011)			8	24					0	0	0.000274275	0	0
SAMD9	54809	broad.mit.edu	37	7	92734725	92734725	+	Missense_Mutation	SNP	G	G	A	rs147146654		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:92734725G>A	ENST00000379958.2	-	3	955	c.686C>T	c.(685-687)tCa>tTa	p.S229L		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	229						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)			ATTGGTACGTGAATTCATACA	0.403000													34	159					0	0	0.00327116	0	0
KRT3	3850	broad.mit.edu	37	12	53185594	53185594	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:53185594C>T	ENST00000417996.2	-	6	1269	c.1195G>A	c.(1195-1197)Gag>Aag	p.E399K	KRT3_ENST00000309505.3_Missense_Mutation_p.E399K	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	399	Coil 2.|Rod.				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						GTCTGCAGCTCCCCCAACTGC	0.522000													7	13					0	0	0.00307968	0	0
KCNH5	27133	broad.mit.edu	37	14	63453898	63453898	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:63453898C>T	ENST00000322893.7	-	5	709	c.441G>A	c.(439-441)acG>acA	p.T147T	KCNH5_ENST00000420622.2_Silent_p.T147T|KCNH5_ENST00000394964.2_Silent_p.T89T|KCNH5_ENST00000394968.1_Silent_p.T89T	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	147					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		GGGCAAATTTCGTCCAACCTT	0.388000													16	27					0	0	0.000566183	0	0
DLGAP3	58512	broad.mit.edu	37	1	35351751	35351751	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:35351751G>A	ENST00000373347.1	-	6	1790	c.1522C>T	c.(1522-1524)Cag>Tag	p.Q508*	DLGAP3_ENST00000235180.4_Nonsense_Mutation_p.Q508*			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	508					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				CAGCCGGCCTGGATGGCCCGG	0.692000													4	11					0	0	0.000602214	0	0
CAPSL	133690	broad.mit.edu	37	5	35904680	35904680	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:35904680G>A	ENST00000397367.2	-	5	720	c.594C>T	c.(592-594)ttC>ttT	p.F198F	CAPSL_ENST00000397366.1_Silent_p.F198F	NM_144647.3	NP_653248.3	Q8WWF8	CAPSL_HUMAN	calcyphosine-like	198						cytoplasm	calcium ion binding			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			TCATGATGATGAAGTACACAT	0.478000													29	70					0	0	0.00428921	0	0
LIF	3976	broad.mit.edu	37	22	30639958	30639958	+	Missense_Mutation	SNP	C	C	T	rs146178572		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr22:30639958C>T	ENST00000403987.3	-	2	155	c.112G>A	c.(112-114)Gga>Aga	p.G38R	LIF_ENST00000249075.3_Silent_p.T97T	NM_001257135.1	NP_001244064.1	P15018	LIF_HUMAN	leukemia inhibitory factor	0					immune response|leukemia inhibitory factor signaling pathway|negative regulation of hormone secretion|positive regulation of cell proliferation|positive regulation of macrophage differentiation|positive regulation of MAPKKK cascade|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of peptidyl-serine phosphorylation of STAT protein|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of metanephric nephron tubule epithelial cell differentiation		cytokine activity|growth factor activity|leukemia inhibitory factor receptor binding			breast(1)|lung(3)|skin(3)	7			Epithelial(10;0.171)			TGGCCTTCTCCGTGCCGTTGG	0.632000													4	19					0	0	0.000602214	0	0
PLCG2	5336	broad.mit.edu	37	16	81902886	81902886	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:81902886C>T	ENST00000359376.3	+	6	761	c.547C>T	c.(547-549)Ctt>Ttt	p.L183F		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	183					intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						TGCCAAGTTCCTTAAAGATAA	0.468000													19	82					0	0	0.00121646	0	0
MYOF	26509	broad.mit.edu	37	10	95191178	95191178	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:95191178C>T	ENST00000371501.4	-	4	454	c.332G>A	c.(331-333)gGg>gAg	p.G111E	MYOF_ENST00000371488.3_Missense_Mutation_p.G111E|MYOF_ENST00000371489.1_Missense_Mutation_p.G111E|MYOF_ENST00000358334.5_Missense_Mutation_p.G111E|MYOF_ENST00000371502.4_Missense_Mutation_p.G111E|MYOF_ENST00000359263.4_Missense_Mutation_p.G111E			Q9NZM1	MYOF_HUMAN	myoferlin	111					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						AGTATCTTGCCCTTTTTCATT	0.473000													4	26					0	0	0.00024832	0	0
OR51T1	401665	broad.mit.edu	37	11	4903171	4903171	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:4903171C>T	ENST00000380378.1	+	1	123	c.123C>T	c.(121-123)ttC>ttT	p.F41F	MMP26_ENST00000477339.1_Intron|OR51T1_ENST00000322049.1_Silent_p.F14F|MMP26_ENST00000380390.1_Intron	NM_001004759.1	NP_001004759.1	Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, member 1	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCTCAAACTTCCTCCTCACTG	0.413000													8	24					0	0	0.000274275	0	0
EPB41L3	23136	broad.mit.edu	37	18	5423386	5423386	+	Silent	SNP	A	A	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:5423386A>G	ENST00000341928.2	-	11	1670	c.1330T>C	c.(1330-1332)Ttg>Ctg	p.L444L	EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000544123.1_Silent_p.L444L|EPB41L3_ENST00000400111.3_Silent_p.L444L|EPB41L3_ENST00000342933.3_Silent_p.L444L|EPB41L3_ENST00000540638.2_Silent_p.L444L	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	444	Hydrophilic.				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						CCTCCATCCAAGCTGCGAGAC	0.468000													7	27					0	0	0.000274275	0	0
TRGV2	6974	broad.mit.edu	37	7	38402702	38402702	+	RNA	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:38402702G>A	ENST00000426402.2	-	0	306																											GATCACAAGTGATTTCAGCAG	0.478000													46	30					0	0	0.00361006	0	0
CCDC142	84865	broad.mit.edu	37	2	74708478	74708478	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:74708478G>A	ENST00000393965.3	-	3	1526	c.1130C>T	c.(1129-1131)tCa>tTa	p.S377L	CCDC142_ENST00000290418.4_Missense_Mutation_p.S377L|CCDC142_ENST00000471713.1_5'UTR	NM_032779.3	NP_116168.3	Q17RM4	CC142_HUMAN	coiled-coil domain containing 142	377										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	16						CCCAAGAGCTGATCCCAAGGC	0.572000													13	32					0	0	0.00316338	0	0
FREM1	158326	broad.mit.edu	37	9	14823287	14823287	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:14823287G>A	ENST00000380881.4	-	14	3026	c.2211C>T	c.(2209-2211)ccC>ccT	p.P737P	FREM1_ENST00000422223.2_Silent_p.P736P|FREM1_ENST00000380880.3_Silent_p.P736P			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	736					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TGTCTTGCATGGGGGGCATGT	0.443000													43	45					0	0	0.00361006	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18644479	18644479	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:18644479G>A	ENST00000433979.1	+	19	2773	c.2657G>A	c.(2656-2658)gGg>gAg	p.G886E	PIK3C2G_ENST00000266497.5_Missense_Mutation_p.G886E|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.G927E	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	886					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				TGTATAAAAGGGATTGATCAC	0.338000													13	71					0	0	0.00185496	0	0
DDX53	168400	broad.mit.edu	37	X	23019767	23019767	+	Silent	SNP	T	T	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:23019767T>G	ENST00000327968.5	+	1	1681	c.1593T>G	c.(1591-1593)ctT>ctG	p.L531L	RP11-40F8.2_ENST00000455399.1_RNA	NM_182699.3	NP_874358.2	Q86TM3	DDX53_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 53	531	Helicase C-terminal.					nucleus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	35						CCCGAGGTCTTGATCTTAATG	0.388000													19	51					0	0	0.00121646	0	0
SELE	6401	broad.mit.edu	37	1	169696611	169696611	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:169696611C>T	ENST00000333360.7	-	10	1663	c.1524G>A	c.(1522-1524)ggG>ggA	p.G508G	SELE_ENST00000367777.1_Silent_p.G445G|SELE_ENST00000367776.1_Silent_p.G445G|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367781.4_Silent_p.G445G|SELE_ENST00000367779.4_Silent_p.G382G|SELE_ENST00000367774.1_Silent_p.G382G|SELE_ENST00000367775.1_Silent_p.G383G|SELE_ENST00000367782.4_Silent_p.G445G|SELE_ENST00000367780.4_Silent_p.G383G	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	508	Sushi 6.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					ACACGGGCTCCCCACTGCAGC	0.522000													9	34					0	0	0.000673444	0	0
GIMAP5	55340	broad.mit.edu	37	7	150439344	150439344	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:150439344G>A	ENST00000358647.3	+	3	484	c.117G>A	c.(115-117)ggG>ggA	p.G39G	GIMAP5_ENST00000479556.1_3'UTR	NM_018384.4	NP_060854.2			GTPase, IMAP family member 5											central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CAGGCTGCGGGAAAAGTGCCA	0.502000													11	58					0	0	0.000673444	0	0
KCNK1	3775	broad.mit.edu	37	1	233807123	233807123	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:233807123G>A	ENST00000366621.3	+	3	1026	c.858G>A	c.(856-858)aaG>aaA	p.K286K	KCNK1_ENST00000472190.1_3'UTR|KCNK1_ENST00000366620.1_Silent_p.K170K	NM_002245.3	NP_002236.1	O00180	KCNK1_HUMAN	potassium channel, subfamily K, member 1	286						voltage-gated potassium channel complex	inward rectifier potassium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine(DB00908)	AGAAGGACAAGGACGAGGATC	0.458000													8	39					0	0	0.000274275	0	0
ZNF512B	57473	broad.mit.edu	37	20	62598817	62598817	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:62598817G>A	ENST00000450537.1	-	3	241	c.181C>T	c.(181-183)Ccg>Tcg	p.P61S	ZNF512B_ENST00000369888.1_Missense_Mutation_p.P61S|ZNF512B_ENST00000217130.3_Missense_Mutation_p.P61S			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	61					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					GGACTTCCCGGGTCAAAGCAG	0.617000													32	52					0	0	0.00375469	0	0
ZNF148	7707	broad.mit.edu	37	3	124951262	124951262	+	Missense_Mutation	SNP	G	G	A	rs137930153		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:124951262G>A	ENST00000360647.4	-	9	2793	c.2308C>T	c.(2308-2310)Ccc>Tcc	p.P770S	ZNF148_ENST00000544464.1_Missense_Mutation_p.P107S|ZNF148_ENST00000468369.1_Missense_Mutation_p.P120S|SLC12A8_ENST00000423114.2_Intron|ZNF148_ENST00000492394.1_Missense_Mutation_p.P770S|ZNF148_ENST00000484491.1_Missense_Mutation_p.P770S|ZNF148_ENST00000497929.1_5'UTR|ZNF148_ENST00000485866.1_Missense_Mutation_p.P770S	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	770					cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding	p.P770S(1)		breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						TTCACCAAGGGAAATTCTGAA	0.408000													8	24					0	0	0.000442599	0	0
SH2D2A	9047	broad.mit.edu	37	1	156779576	156779576	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:156779576G>A	ENST00000392306.2	-	6	760	c.621C>T	c.(619-621)tcC>tcT	p.S207S	SH2D2A_ENST00000368199.3_Silent_p.S197S|SH2D2A_ENST00000368198.3_Silent_p.S179S	NM_001161441.1	NP_001154913.1	Q9NP31	SH22A_HUMAN	SH2 domain containing 2A	197	Pro-rich.				angiogenesis|cell differentiation|signal transduction	cytoplasm|soluble fraction	SH3 domain binding|SH3/SH2 adaptor activity			endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CGGTCCTCAGGGAAAGTCCTG	0.557000													20	93					0	0	0.00229938	0	0
GJC1	10052	broad.mit.edu	37	17	42883130	42883130	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:42883130A>G	ENST00000426548.1	-	3	325	c.56T>C	c.(55-57)tTt>tCt	p.F19S	GJC1_ENST00000592524.1_Missense_Mutation_p.F19S|GJC1_ENST00000590758.1_Missense_Mutation_p.F19S|GJC1_ENST00000330514.4_Missense_Mutation_p.F19S	NM_001080383.1|NM_005497.3	NP_001073852.1|NP_005488.2	P36383	CXG1_HUMAN	gap junction protein, gamma 1, 45kDa	19					cellular membrane organization|gap junction assembly|muscle contraction|synaptic transmission|transport	connexon complex|integral to membrane				NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1)	19		Prostate(33;0.0959)				CTTCCCCACAAATGTGGAATG	0.443000													19	17					0	0	0.00188189	0	0
B3GALNT1	8706	broad.mit.edu	37	3	160804296	160804296	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:160804296G>A	ENST00000392781.2	-	8	994	c.247C>T	c.(247-249)Ctg>Ttg	p.L83L	B3GALNT1_ENST00000392780.1_Silent_p.L83L|B3GALNT1_ENST00000320474.4_Silent_p.L83L|B3GALNT1_ENST00000392779.2_Silent_p.L83L|B3GALNT1_ENST00000417187.1_Intron|B3GALNT1_ENST00000473285.1_Silent_p.L83L|B3GALNT1_ENST00000488170.1_Silent_p.L83L	NM_001038628.1	NP_001033717.1	O75752	B3GL1_HUMAN	beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)	83					protein glycosylation	Golgi membrane|integral to membrane	galactosylgalactosylglucosylceramide beta-D-acetylgalactosaminyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			breast(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(72;4.41e-05)|Lung(72;4.61e-05)			GAGGTCACCAGAATGACCAGA	0.428000													21	52					0	0	0.000720815	0	0
STRIP2	57464	broad.mit.edu	37	7	129079882	129079882	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:129079882C>T	ENST00000249344.2	+	2	189	c.149C>T	c.(148-150)aCt>aTt	p.T50I	STRIP2_ENST00000435494.2_Missense_Mutation_p.T50I	NM_020704.2	NP_065755.1			striatin interacting protein 2									p.T50I(1)									GACTGTCCCACTCTGGAGTTT	0.483000													9	73					0	0	0.00136819	0	0
SVEP1	79987	broad.mit.edu	37	9	113194887	113194887	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:113194887C>T	ENST00000401783.2	-	31	5424	c.5088G>A	c.(5086-5088)ttG>ttA	p.L1696L	SVEP1_ENST00000374469.1_Silent_p.L1673L	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1696	Sushi 6.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						AGCCATTCTCCAAAGGAGGTG	0.443000													8	29					0	0	0.000442599	0	0
ZNF57	126295	broad.mit.edu	37	19	2916093	2916093	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:2916093A>C	ENST00000306908.5	+	3	296	c.148A>C	c.(148-150)Aaa>Caa	p.K50Q	AC006277.2_ENST00000520090.2_RNA|ZNF57_ENST00000523428.1_Missense_Mutation_p.K18Q	NM_173480.2	NP_775751.1	Q68EA5	ZNF57_HUMAN	zinc finger protein 57	50	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				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)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18)		GACTCAATTTAAAGCCAATGG	0.378000													9	54					0	0	0.000978159	0	0
CCDC25	55246	broad.mit.edu	37	8	27610082	27610082	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:27610082G>A	ENST00000356537.4	-	5	284	c.191C>T	c.(190-192)cCa>cTa	p.P64L	RP11-16P20.3_ENST00000521510.1_RNA|CCDC25_ENST00000539095.1_5'UTR|CCDC25_ENST00000522915.1_5'UTR	NM_018246.2	NP_060716.2	Q86WR0	CCD25_HUMAN	coiled-coil domain containing 25	64										endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0223)|KIRC - Kidney renal clear cell carcinoma(542;0.11)|Kidney(114;0.131)|Colorectal(74;0.154)		CACTTCCTTTGGGATGTCTTC	0.438000													5	29					0	0	0.00198382	0	0
POTEC	388468	broad.mit.edu	37	18	14537808	14537808	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:14537808T>C	ENST00000358970.5	-	3	801	c.802A>G	c.(802-804)Aaa>Gaa	p.K268E	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	268										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						ACCTTGTTTTTTGATTCAATA	0.363000													5	52					0	0	0.00198382	0	0
BUD13	84811	broad.mit.edu	37	11	116633974	116633974	+	Missense_Mutation	SNP	C	C	T	rs141852086		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:116633974C>T	ENST00000260210.4	-	4	354	c.331G>A	c.(331-333)Gaa>Aaa	p.E111K	BUD13_ENST00000375445.3_Missense_Mutation_p.E111K	NM_032725.3	NP_116114.1	Q9BRD0	BUD13_HUMAN	BUD13 homolog (S. cerevisiae)	111										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1)	22	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)		GGTAGGTCTTCGTTGTGGCCT	0.507000													24	107					0	0	0.00395357	0	0
TTN	7273	broad.mit.edu	37	2	179569925	179569925	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:179569925G>C	ENST00000589042.1	-	103	29804	c.29580C>G	c.(29578-29580)agC>agG	p.S9860R	TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S8616R|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S9543R|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589830.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9543							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)			CTTCTTCTTGGCTTTGCTTGA	0.363000													39	81					0	0	0.00361006	0	0
DUSP10	11221	broad.mit.edu	37	1	221879692	221879692	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:221879692G>A	ENST00000366899.3	-	3	1166	c.928C>T	c.(928-930)Ccc>Tcc	p.P310S	DUSP10_ENST00000544095.1_5'UTR|DUSP10_ENST00000468085.1_5'UTR|DUSP10_ENST00000323825.3_5'UTR	NM_007207.4	NP_009138.1	Q9Y6W6	DUS10_HUMAN	dual specificity phosphatase 10	310					inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade	Golgi apparatus|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(131;0.0103)		GTGGGGATGGGCTGAGGTAGC	0.607000													10	72					0	0	0.00185496	0	0
ESRRG	2104	broad.mit.edu	37	1	216850657	216850657	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:216850657C>T	ENST00000391890.3	-	4	681	c.164G>A	c.(163-165)gGa>gAa	p.G55E	ESRRG_ENST00000361395.2_Missense_Mutation_p.G55E|ESRRG_ENST00000366940.2_Missense_Mutation_p.G55E|ESRRG_ENST00000359162.2_Missense_Mutation_p.G55E|ESRRG_ENST00000361525.3_Missense_Mutation_p.G55E|ESRRG_ENST00000366938.2_Missense_Mutation_p.G55E|ESRRG_ENST00000360012.3_Missense_Mutation_p.G55E|ESRRG_ENST00000463665.1_Missense_Mutation_p.G55E|ESRRG_ENST00000487276.1_Missense_Mutation_p.G55E|ESRRG_ENST00000408911.3_Missense_Mutation_p.G78E|ESRRG_ENST00000493748.1_Missense_Mutation_p.G55E|ESRRG_ENST00000366937.1_Missense_Mutation_p.G83E|ESRRG_ENST00000493603.1_Missense_Mutation_p.G55E	NM_001243515.1|NM_001243519.1	NP_001230444.1|NP_001230448.1	P62508	ERR3_HUMAN	estrogen-related receptor gamma	78					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	CGAGTCAAGTCCGTTCTGATG	0.562000													9	23					0	0	0.000274275	0	0
PLXNA4	91584	broad.mit.edu	37	7	131859612	131859612	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:131859612G>A	ENST00000359827.3	-	21	4904	c.3942C>T	c.(3940-3942)ttC>ttT	p.F1314F	PLXNA4_ENST00000321063.4_Silent_p.F1314F			Q9HCM2	PLXA4_HUMAN	plexin A4	1314						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TATAGTCCAGGAACGGAATCC	0.577000													10	89					0	0	0.000978159	0	0
MLLT6	4302	broad.mit.edu	37	17	36874168	36874168	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:36874168T>G	ENST00000325718.7	+	12	1995	c.1904T>G	c.(1903-1905)gTt>gGt	p.V635G	CTB-58E17.9_ENST00000579499.1_RNA	NM_005937.3	NP_005928.2	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	635					regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					ATGGGTGCCGTTAATCCCCTC	0.557000			T	MLL	AL								22	82					0	0	0.000878237	0	0
TTN	7273	broad.mit.edu	37	2	179433209	179433209	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:179433209C>T	ENST00000589042.1	-	326	77874	c.77650G>A	c.(77650-77652)Gaa>Aaa	p.E25884K	TTN_ENST00000342175.6_Missense_Mutation_p.E17011K|TTN_ENST00000460472.2_Missense_Mutation_p.E16819K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E23316K|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E24243K|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E16944K|TTN-AS1_ENST00000592750.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	24243	Fibronectin type-III 88.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E23314K(1)|p.E17011K(1)		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)			GTTACAATTTCGATGGATGCT	0.388000													12	21					0	0	0.000978159	0	0
NLRP4	147945	broad.mit.edu	37	19	56369540	56369540	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:56369540C>T	ENST00000301295.6	+	3	1203	c.781C>T	c.(781-783)Ctg>Ttg	p.L261L	NLRP4_ENST00000587891.1_Silent_p.L186L|NLRP4_ENST00000346986.5_Silent_p.L261L	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	261	NACHT.						ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GCAGGTGCTTCTGAGCAGTTT	0.582000													12	53					0	0	0.00400662	0	0
NR5A2	2494	broad.mit.edu	37	1	200090049	200090049	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:200090049C>T	ENST00000367362.3	+	7	1590	c.1344C>T	c.(1342-1344)ttC>ttT	p.F448F	NR5A2_ENST00000236914.3_Silent_p.F402F|NR5A2_ENST00000544748.1_Silent_p.F376F	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	448					embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					AACGAGAGTTCGTATGTCTGA	0.413000													13	74					0	0	0.00136819	0	0
CNTN4	152330	broad.mit.edu	37	3	3084839	3084839	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:3084839G>A	ENST00000397461.1	+	21	3074	c.2690G>A	c.(2689-2691)cGa>cAa	p.R897Q	CNTN4_ENST00000358480.3_Missense_Mutation_p.R678Q|CNTN4_ENST00000427331.1_Missense_Mutation_p.R897Q|CNTN4_ENST00000418658.1_Missense_Mutation_p.R897Q|CNTN4_ENST00000397459.2_Missense_Mutation_p.R569Q|CNTN4-AS1_ENST00000442749.2_RNA|CNTN4_ENST00000448906.2_Missense_Mutation_p.R569Q	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	897					axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		GTGACAACCCGAAAGCCACGT	0.438000													6	36					0	0	0.00307968	0	0
SGSM1	129049	broad.mit.edu	37	22	25294236	25294236	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr22:25294236G>A	ENST00000400358.4	+	19	2377	c.2320G>A	c.(2320-2322)Gag>Aag	p.E774K	SGSM1_ENST00000400359.4_Missense_Mutation_p.E829K	NM_001098497.1|NM_001098498.1	NP_001091967.1|NP_001091968.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	829	Rab-GAP TBC.					Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						GGCTCCCCGGGAGGAGCTGGC	0.662000													5	14					0	0	0.000602214	0	0
NCDN	23154	broad.mit.edu	37	1	36028899	36028899	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:36028899C>T	ENST00000373243.2	+	5	1865	c.1482C>T	c.(1480-1482)ttC>ttT	p.F494F	NCDN_ENST00000356090.4_Silent_p.F494F|NCDN_ENST00000373253.3_Silent_p.F477F	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN	neurochondrin	494					neuron projection development	cytosol|dendrite|neuronal cell body				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GCAAGTATTTCCTGCAGCAGT	0.622000													12	44					0	0	0.00136819	0	0
CNR1	1268	broad.mit.edu	37	6	88854370	88854370	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:88854370G>A	ENST00000537554.1	-	2	4186	c.624C>T	c.(622-624)ttC>ttT	p.F208F	CNR1_ENST00000428600.2_Silent_p.F208F|CNR1_ENST00000549890.1_Silent_p.F208F|CNR1_ENST00000549716.1_Silent_p.F147F|CNR1_ENST00000369499.2_Silent_p.F208F|CNR1_ENST00000369501.2_Silent_p.F208F|CNR1_ENST00000468898.1_Silent_p.F175F|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000535130.1_Silent_p.F208F	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	208					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	TGGCTGTGAGGAACAGGCTGC	0.567000													4	20					0	0	0.00024832	0	0
TTN	7273	broad.mit.edu	37	2	179604834	179604834	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:179604834C>T	ENST00000589042.1	-	48	13350	c.13126G>A	c.(13126-13128)Gac>Aac	p.D4376N	TTN_ENST00000342175.6_Missense_Mutation_p.D4205N|TTN_ENST00000460472.2_Missense_Mutation_p.D4013N|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D4059N|TTN_ENST00000359218.5_Missense_Mutation_p.D4138N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4059	Ig-like 23.						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)			GAAAGAAGGTCCCTTCCCTGT	0.478000													7	16					0	0	0.000442599	0	0
MUC5B	727897	broad.mit.edu	37	11	1268528	1268528	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:1268528C>T	ENST00000447027.1	+	31	10485	c.10427C>T	c.(10426-10428)tCg>tTg	p.S3476L	MUC5B_ENST00000529681.1_Missense_Mutation_p.S3473L|RP11-532E4.2_ENST00000532061.2_RNA			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3473	7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GCCTGGACTTCGGCCACCTCG	0.672000													4	16					0	0	0.00024832	0	0
CD3D	915	broad.mit.edu	37	11	118209929	118209929	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:118209929C>T	ENST00000300692.4	-	5	600	c.464G>A	c.(463-465)cGa>cAa	p.R155Q	CD3D_ENST00000529594.1_Missense_Mutation_p.R82Q|CD3D_ENST00000392884.2_Missense_Mutation_p.R111Q	NM_000732.4	NP_000723.1	P04234	CD3D_HUMAN	CD3d molecule, delta (CD3-TCR complex)	155	ITAM.				positive thymic T cell selection|T cell costimulation|T cell receptor signaling pathway	cytoplasm|integral to membrane	protein heterodimerization activity			large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	9	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		AGCATCATCTCGATCTCGGAG	0.547000													12	54					0	0	0.00185496	0	0
PAPPA	5069	broad.mit.edu	37	9	119097240	119097240	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:119097240C>T	ENST00000328252.3	+	13	3867	c.3498C>T	c.(3496-3498)ttC>ttT	p.F1166F	PAPPA_ENST00000534838.1_Silent_p.F204F	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1166					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						GTGTGAGCTTCAGTTCGCCCC	0.617000													5	24					0	0	0.00198382	0	0
ZMIZ2	83637	broad.mit.edu	37	7	44805143	44805143	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:44805143C>T	ENST00000309315.4	+	16	2330	c.2207C>T	c.(2206-2208)cCc>cTc	p.P736L	ZMIZ2_ENST00000441627.1_Missense_Mutation_p.P736L|ZMIZ2_ENST00000433667.1_Missense_Mutation_p.P704L|ZMIZ2_ENST00000413916.1_Missense_Mutation_p.P678L|ZMIZ2_ENST00000265346.7_Missense_Mutation_p.P710L	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	736	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CTGCAGCCCCCCTCAGTCCCT	0.682000													10	3					0	0	0.000978159	0	0
MYPOP	339344	broad.mit.edu	37	19	46393958	46393958	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:46393958G>A	ENST00000322217.5	-	3	1209	c.1123C>T	c.(1123-1125)Ccg>Tcg	p.P375S		NM_001012643.2	NP_001012661.1	Q86VE0	MYPOP_HUMAN	Myb-related transcription factor, partner of profilin	375	Pro-rich.					nucleus	DNA binding			large_intestine(2)|lung(1)|skin(1)	4						GAGTCGTGCGGAGGGAGCGGG	0.647000													4	7					0	0	0.000602214	0	0
ATP12A	479	broad.mit.edu	37	13	25272817	25272817	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr13:25272817G>A	ENST00000218548.6	+	12	1885	c.1552G>A	c.(1552-1554)Gac>Aac	p.D518N	ATP12A_ENST00000381946.3_Missense_Mutation_p.D512N	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	512					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	CGAGATGGATGACCCCCACGG	0.522000													5	17					0	0	0.00307968	0	0
AGBL5	60509	broad.mit.edu	37	2	27280199	27280199	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:27280199G>A	ENST00000360131.4	+	9	1723	c.1564G>A	c.(1564-1566)Gga>Aga	p.G522R	AGBL5_ENST00000323064.8_Missense_Mutation_p.G522R	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	522					protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTACAACACTGGACGCTCAGT	0.522000													25	23					0	0	0.00278032	0	0
DSP	1832	broad.mit.edu	37	6	7572181	7572181	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:7572181G>A	ENST00000379802.3	+	15	2351	c.2010G>A	c.(2008-2010)atG>atA	p.M670I	DSP_ENST00000418664.2_Missense_Mutation_p.M670I	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	670	Globular 1.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GGATGCTGATGGAGCTGCAGA	0.458000													14	82					0	0	0.00185496	0	0
MCOLN2	255231	broad.mit.edu	37	1	85418002	85418002	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:85418002G>A	ENST00000370608.3	-	6	738	c.671C>T	c.(670-672)tCc>tTc	p.S224F	MCOLN2_ENST00000531325.1_5'UTR|MCOLN2_ENST00000284027.5_Missense_Mutation_p.S196F	NM_153259.2	NP_694991.2	Q8IZK6	MCLN2_HUMAN	mucolipin 2	224						integral to membrane	ion channel activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	18				all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)		AAGATGAAAGGAGATTTCAAC	0.353000													25	25					0	0	0.000878237	0	0
SLC12A9	56996	broad.mit.edu	37	7	100456718	100456718	+	Silent	SNP	C	C	T	rs148415163		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:100456718C>T	ENST00000354161.3	+	7	1037	c.912C>T	c.(910-912)gtC>gtT	p.V304V	SLC12A9_ENST00000428758.1_Silent_p.V304V|SLC12A9_ENST00000275729.3_Silent_p.V215V|SLC12A9_ENST00000415287.1_Silent_p.V215V|SLC12A9_ENST00000540482.1_Silent_p.V304V|SLC12A9_ENST00000475623.1_3'UTR	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	304						integral to membrane|plasma membrane	cation:chloride symporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					GCACGATCGTCGCCGTCGCCT	0.622000													17	156					0	0	0.000878237	0	0
KCNJ11	3767	broad.mit.edu	37	11	17409117	17409117	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:17409117G>A	ENST00000339994.4	-	1	1089	c.522C>T	c.(520-522)gcC>gcT	p.A174A	KCNJ11_ENST00000528731.1_Silent_p.A87A	NM_000525.3	NP_000516.3	B4DWI4	B4DWI4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 11	87						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)		CCCTGCGGTGGGCTTGGGCAG	0.597000											OREG0020810	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	44	146					0	0	0.0025221	0	0
KCNG4	93107	broad.mit.edu	37	16	84270431	84270431	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:84270431T>A	ENST00000568181.1	-	2	781	c.661A>T	c.(661-663)Aag>Tag	p.K221*	KCNG4_ENST00000308251.4_Nonsense_Mutation_p.K221*			Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	221						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						GCGAAGACCTTCCCGGGCAGC	0.682000													5	21					0	0	0.000602214	0	0
TNRC6A	27327	broad.mit.edu	37	16	24829927	24829927	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:24829927C>T	ENST00000395799.3	+	21	5115	c.4986C>T	c.(4984-4986)tcC>tcT	p.S1662S	CTD-2515A14.1_ENST00000568895.1_RNA|TNRC6A_ENST00000315183.7_Silent_p.S1613S|TNRC6A_ENST00000432286.2_Silent_p.S140S	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1662					negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		CATCCTCATCCTTGAACACCA	0.522000													5	12					0	0	0.00116845	0	0
PDE4DIP	9659	broad.mit.edu	37	1	145015921	145015921	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:145015921G>A	ENST00000369359.4	-	3	418	c.380C>T	c.(379-381)tCc>tTc	p.S127F	PDE4DIP_ENST00000313382.9_Missense_Mutation_p.S56F|PDE4DIP_ENST00000493130.2_Missense_Mutation_p.S56F|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.S127F|PDE4DIP_ENST00000478649.2_Missense_Mutation_p.S56F|PDE4DIP_ENST00000369348.3_Missense_Mutation_p.S127F			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	0					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TGCTCTCAAGGAATATGTCTG	0.448000			T	PDGFRB	MPD								18	399					0	0	0.000566183	0	0
F5	2153	broad.mit.edu	37	1	169511939	169511939	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:169511939C>T	ENST00000367796.3	-	13	2605	c.2404G>A	c.(2404-2406)Gcc>Acc	p.A802T	F5_ENST00000367797.3_Missense_Mutation_p.A797T			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	797	B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TGAGAAGGGGCTTTCTGAGGT	0.433000													19	48					0	0	0.00152264	0	0
PLCB1	23236	broad.mit.edu	37	20	8130986	8130986	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:8130986G>A	ENST00000378641.3	+	2	620	c.145G>A	c.(145-147)Gga>Aga	p.G49R	PLCB1_ENST00000378637.2_Missense_Mutation_p.G49R|PLCB1_ENST00000338037.6_Missense_Mutation_p.G49R	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	49					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						TGACCCTCAGGGATTTTTCTT	0.313000													17	45					0	0	0.000958276	0	0
EPYC	1833	broad.mit.edu	37	12	91363844	91363844	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:91363844T>A	ENST00000261172.3	-	6	867	c.775A>T	c.(775-777)Aat>Tat	p.N259Y		NM_004950.4	NP_004941.2	Q99645	EPYC_HUMAN	epiphycan	259					female pregnancy	proteinaceous extracellular matrix	glycosaminoglycan binding			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|skin(2)	18						GCTCGTAGATTTTCTGGGAGT	0.473000													18	62					0	0	0.00121646	0	0
TTN	7273	broad.mit.edu	37	2	179407867	179407867	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:179407867C>T	ENST00000589042.1	-	347	97057	c.96833G>A	c.(96832-96834)aGg>aAg	p.R32278K	TTN_ENST00000342175.6_Missense_Mutation_p.R23405K|TTN_ENST00000460472.2_Missense_Mutation_p.R23213K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R29710K|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R30637K|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R23338K|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590040.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	30637	Protein kinase.						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)			ATTTTGTGCCCTTATTCTAAA	0.408000													47	75					0	0	0.00361006	0	0
GJC1	10052	broad.mit.edu	37	17	42882669	42882669	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:42882669G>A	ENST00000426548.1	-	3	786	c.517C>T	c.(517-519)Ctc>Ttc	p.L173F	GJC1_ENST00000592524.1_Missense_Mutation_p.L173F|GJC1_ENST00000590758.1_Missense_Mutation_p.L173F|GJC1_ENST00000330514.4_Missense_Mutation_p.L173F	NM_001080383.1|NM_005497.3	NP_001073852.1|NP_005488.2	P36383	CXG1_HUMAN	gap junction protein, gamma 1, 45kDa	173					cellular membrane organization|gap junction assembly|muscle contraction|synaptic transmission|transport	connexon complex|integral to membrane				NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1)	19		Prostate(33;0.0959)				ATTTTCATGAGCCCATCTTCC	0.473000													23	109					0	0	0.000720815	0	0
TP63	8626	broad.mit.edu	37	3	189607226	189607226	+	Silent	SNP	C	C	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:189607226C>A	ENST00000264731.3	+	12	1694	c.1605C>A	c.(1603-1605)tcC>tcA	p.S535S	TP63_ENST00000440651.2_Silent_p.S531S|TP63_ENST00000392460.3_Silent_p.S535S|TP63_ENST00000449992.1_Silent_p.S356S|TP63_ENST00000456148.1_Silent_p.S437S|TP63_ENST00000382063.4_Silent_p.S450S|TP63_ENST00000392463.2_Silent_p.S441S|TP63_ENST00000392461.3_Intron|TP63_ENST00000354600.5_Silent_p.S441S|TP63_ENST00000320472.5_Intron	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	535					anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CATCCACCTCCCACTGCACAC	0.617000										HNSCC(45;0.13)			6	24					5.18039e-06	1.5048e-05	0.00307968	1	0
TRPV6	55503	broad.mit.edu	37	7	142572683	142572683	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:142572683G>A	ENST00000359396.3	-	10	1505	c.1260C>T	c.(1258-1260)atC>atT	p.I420I		NM_018646.3	NP_061116.2	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	420					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					GGCCCCCAAGGATGGTCTGTC	0.542000													12	78					0	0	0.00316338	0	0
GRM8	2918	broad.mit.edu	37	7	126173432	126173432	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:126173432G>A	ENST00000339582.2	-	9	2812	c.2004C>T	c.(2002-2004)acC>acT	p.T668T	GRM8_ENST00000358373.3_Silent_p.T668T|GRM8_ENST00000444921.2_Silent_p.T668T|GRM8_ENST00000480995.1_5'UTR			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	668					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)	GGTTTGTTTTGGTCAGAAGGG	0.478000										HNSCC(24;0.065)			6	89					0	0	0.00307968	0	0
NUB1	51667	broad.mit.edu	37	7	151046259	151046259	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:151046259G>A	ENST00000568733.1	+	3	356	c.290G>A	c.(289-291)gGa>gAa	p.G97E	NUB1_ENST00000566856.1_Missense_Mutation_p.G73E|NUB1_ENST00000355851.4_Missense_Mutation_p.G73E|NUB1_ENST00000413040.2_Missense_Mutation_p.G97E			Q9Y5A7	NUB1_HUMAN	negative regulator of ubiquitin-like proteins 1	73					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	nucleus	protein binding			endometrium(1)|large_intestine(7)|lung(3)	11			OV - Ovarian serous cystadenocarcinoma(82;0.00569)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		CGTGGAACAGGAAATGACAAT	0.378000													27	224					0	0	0.00106085	0	0
NAA11	84779	broad.mit.edu	37	4	80246972	80246972	+	Silent	SNP	A	A	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:80246972A>T	ENST00000286794.4	-	1	232	c.60T>A	c.(58-60)ctT>ctA	p.L20L		NM_032693.2	NP_116082.1	Q9BSU3	NAA11_HUMAN	N(alpha)-acetyltransferase 11, NatA catalytic subunit	20	Interaction with NAA15 (By similarity).|N-acetyltransferase.					cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|skin(2)	23						CAGGAAGGCAAAGGAGGTTGC	0.502000													10	36					0	0	0.000673444	0	0
EXOC7	23265	broad.mit.edu	37	17	74084900	74084900	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:74084900G>A	ENST00000607838.1	-	10	1315	c.1221C>T	c.(1219-1221)atC>atT	p.I407I	EXOC7_ENST00000405575.4_Silent_p.I407I|EXOC7_ENST00000589210.1_Silent_p.I384I|EXOC7_ENST00000411744.2_Silent_p.I376I|EXOC7_ENST00000332065.5_Silent_p.I353I|EXOC7_ENST00000467929.2_Silent_p.I343I|EXOC7_ENST00000335146.7_Silent_p.I435I	NM_001145297.2|NM_001145298.2|NM_001145299.2	NP_001138769.1|NP_001138770.1|NP_001138771.1	Q9UPT5	EXOC7_HUMAN	exocyst complex component 7	435					exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14			LUSC - Lung squamous cell carcinoma(166;0.187)			GGTGTCGCAGGATGGGGAAGA	0.607000													10	34					0	0	0.000442599	0	0
TRBV10-1	28585	broad.mit.edu	37	7	142232039	142232039	+	RNA	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:142232039G>A	ENST00000390364.3	-	0	51																											TCCAGGGCAGGATCTTGTGTC	0.572000													5	36					0	0	0.00116845	0	0
PGLYRP3	114771	broad.mit.edu	37	1	153279643	153279643	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:153279643G>A	ENST00000290722.1	-	2	208	c.156C>T	c.(154-156)ctC>ctT	p.L52L		NM_052891.1	NP_443123.1	Q96LB9	PGRP3_HUMAN	peptidoglycan recognition protein 3	52					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	28	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCATCCCTGGGAGCTGGTCTG	0.632000													5	4					0	0	0.000602214	0	0
FNDC3A	22862	broad.mit.edu	37	13	49705416	49705416	+	Silent	SNP	A	A	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr13:49705416A>T	ENST00000492622.2	+	5	701	c.396A>T	c.(394-396)ccA>ccT	p.P132P	FNDC3A_ENST00000541916.1_Silent_p.P132P|FNDC3A_ENST00000398316.3_Silent_p.P76P	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	132	Pro-rich.					Golgi membrane|integral to membrane				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		TGCCGCCTCCACCACGTCATA	0.498000													11	50					0	0	0.000978159	0	0
CCDC15	80071	broad.mit.edu	37	11	124857228	124857228	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:124857228T>C	ENST00000529051.1	+	8	1365	c.1106T>C	c.(1105-1107)gTt>gCt	p.V369A	CCDC15_ENST00000344762.5_Missense_Mutation_p.V369A			Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	369						centrosome				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		AAGGTTCAGGTTACTGAGCCA	0.473000													23	117					0	0	0.00395357	0	0
PKP1	5317	broad.mit.edu	37	1	201287819	201287819	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:201287819C>T	ENST00000263946.3	+	6	1379	c.1128C>T	c.(1126-1128)gcC>gcT	p.A376A	PKP1_ENST00000475988.1_3'UTR|PKP1_ENST00000352845.3_Silent_p.A376A|PKP1_ENST00000367324.3_Silent_p.A376A	NM_000299.3	NP_000290.2	Q13835	PKP1_HUMAN	plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)	376					cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development	desmosome|intermediate filament|nucleus	intermediate filament binding|signal transducer activity|structural constituent of epidermis			NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1)	22						CTGTTCTGGCCGACCGCGTCA	0.582000													5	11					0	0	0.000602214	0	0
CUX1	1523	broad.mit.edu	37	7	101923374	101923374	+	Missense_Mutation	SNP	G	G	A	rs139293638		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:101923374G>A	ENST00000437600.4	+	19	2072	c.1720G>A	c.(1720-1722)Gag>Aag	p.E574K	CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000547394.2_Missense_Mutation_p.E560K|CUX1_ENST00000393824.3_Missense_Mutation_p.E537K|CUX1_ENST00000292538.4_Missense_Mutation_p.E576K|CUX1_ENST00000425244.2_Missense_Mutation_p.E530K	NM_181500.2	NP_852477.1	P39880	CUX1_HUMAN	cut-like homeobox 1	165					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.E576K(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GTCCCAGTACGAGGAGCGCCT	0.672000													7	45					0	0	0.000442599	0	0
PTPRN2	5799	broad.mit.edu	37	7	157959893	157959893	+	Missense_Mutation	SNP	C	C	T	rs144856548	byFrequency	TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:157959893C>T	ENST00000389413.3	-	6	743	c.640G>A	c.(640-642)Gag>Aag	p.E214K	PTPRN2_ENST00000409483.1_Missense_Mutation_p.E176K|PTPRN2_ENST00000389418.4_Missense_Mutation_p.E214K|PTPRN2_ENST00000389416.4_Missense_Mutation_p.E197K|PTPRN2_ENST00000404321.2_Missense_Mutation_p.E237K	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	214						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		AGGAGGTCCTCGCGGAGCTGG	0.647000													37	14					0	0	0.000953801	0	0
PCMTD1	115294	broad.mit.edu	37	8	52733157	52733157	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:52733157C>T	ENST00000360540.5	-	7	1234	c.828G>A	c.(826-828)agG>agA	p.R276R	PCMTD1_ENST00000522514.1_Silent_p.R276R|PCMTD1_ENST00000519559.1_5'UTR|PCMTD1_ENST00000544451.1_Silent_p.R200R	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	276						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity			NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				TCTTTCTTTTCCTTTTGGGTG	0.408000													6	177					0	0	0.00185496	0	0
LRRC18	474354	broad.mit.edu	37	10	50122161	50122161	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:50122161T>A	ENST00000374160.3	-	1	116	c.40A>T	c.(40-42)Acc>Tcc	p.T14S	WDFY4_ENST00000325239.5_Intron|WDFY4_ENST00000413659.2_Intron|LRRC18_ENST00000298124.3_Missense_Mutation_p.T14S|RP11-523O18.7_ENST00000430438.1_RNA	NM_001006939.3	NP_001006940.3	Q8N456	LRC18_HUMAN	leucine rich repeat containing 18	14						cytoplasm				NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						ACCTTGAGGGTGATCTTCTTG	0.438000													10	23					0	0	0.000673444	0	0
PLCB4	5332	broad.mit.edu	37	20	9391704	9391704	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:9391704C>T	ENST00000378501.2	+	21	1999	c.1984C>T	c.(1984-1986)Cag>Tag	p.Q662*	PLCB4_ENST00000278655.4_Nonsense_Mutation_p.Q662*|PLCB4_ENST00000334005.3_Nonsense_Mutation_p.Q662*|PLCB4_ENST00000378473.3_Nonsense_Mutation_p.Q674*|PLCB4_ENST00000414679.2_Nonsense_Mutation_p.Q674*|PLCB4_ENST00000378493.1_Nonsense_Mutation_p.Q662*|PLCB4_ENST00000492632.1_3'UTR	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	662	PI-PLC Y-box.				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						GCAATTGAATCAGGGAAAATT	0.368000													9	67					0	0	0.00185496	0	0
PTGS1	5742	broad.mit.edu	37	9	125154756	125154756	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:125154756C>T	ENST00000362012.2	+	11	1738	c.1733C>T	c.(1732-1734)tCc>tTc	p.S578F	PTGS1_ENST00000223423.4_Missense_Mutation_p.S541F|PTGS1_ENST00000373698.5_Missense_Mutation_p.S469F|PTGS1_ENST00000540753.1_Missense_Mutation_p.S516F	NM_000962.2|NM_001271164.1|NM_080591.1	NP_000953.2|NP_001258093.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	578					cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)	CCCTACGTTTCCTTCCGTGTG	0.582000													19	28					0	0	0.000958276	0	0
KIF21B	23046	broad.mit.edu	37	1	200968558	200968558	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:200968558C>T	ENST00000332129.2	-	13	2120	c.1804G>A	c.(1804-1806)Gag>Aag	p.E602K	KIF21B_ENST00000360529.5_Missense_Mutation_p.E602K|KIF21B_ENST00000422435.2_Missense_Mutation_p.E602K|KIF21B_ENST00000461742.2_Missense_Mutation_p.E602K	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	602					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CGCCCTTCCTCCTCCTCACAG	0.642000													12	48					0	0	0.00244969	0	0
KCTD8	386617	broad.mit.edu	37	4	44177162	44177162	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:44177162G>A	ENST00000360029.3	-	2	1350	c.1067C>T	c.(1066-1068)tCc>tTc	p.S356F		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	356						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						ACTGGAAGTGGAGAGCTCATT	0.458000										HNSCC(17;0.042)			14	36					0	0	0.00185496	0	0
ARHGAP5	394	broad.mit.edu	37	14	32560773	32560773	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:32560773C>T	ENST00000345122.3	+	2	1213	c.898C>T	c.(898-900)Cat>Tat	p.H300Y	ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.H300Y|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.H300Y|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.H300Y	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	300	FF 1.				cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding	p.H300Y(1)		NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		ATTAAAAAATCATCCTGATTA	0.313000													34	173					0	0	0.000953801	0	0
WDR62	284403	broad.mit.edu	37	19	36557193	36557193	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:36557193T>G	ENST00000401500.2	+	5	460	c.425T>G	c.(424-426)gTg>gGg	p.V142G	WDR62_ENST00000388999.3_Missense_Mutation_p.V142G|WDR62_ENST00000270301.7_Missense_Mutation_p.V142G|WDR62_ENST00000378860.4_3'UTR	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	WD repeat domain 62	142					cerebral cortex development	nucleus				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			ATCTGGGATGTGGAGGAGAAG	0.572000													4	19					0	0	0.000602214	0	0
ZMYM6	9204	broad.mit.edu	37	1	35477565	35477565	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:35477565G>A	ENST00000357182.4	-	8	1215	c.988C>T	c.(988-990)Cct>Tct	p.P330S	ZMYM6_ENST00000373340.2_Missense_Mutation_p.P330S|ZMYM6_ENST00000487874.1_Missense_Mutation_p.P330S|ZMYM6_ENST00000493328.1_5'UTR	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	330					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				TGATACTGAGGGATTGCTGAG	0.378000													15	43					0	0	0.000958276	0	0
SLC5A8	160728	broad.mit.edu	37	12	101581281	101581281	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:101581281G>A	ENST00000536262.2	-	7	1404	c.846C>T	c.(844-846)atC>atT	p.I282I		NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8	282					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CCACAAGATTGATGTAGAGAG	0.433000													7	13					0	0	0.00307968	0	0
TNR	7143	broad.mit.edu	37	1	175331865	175331865	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:175331865C>T	ENST00000367674.1	-	14	3496	c.2788G>A	c.(2788-2790)Gaa>Aaa	p.E930K	TNR_ENST00000263525.2_Missense_Mutation_p.E930K	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	930	Fibronectin type-III 7.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.E930K(2)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					AGGCTGATTTCGTATTCGGTA	0.532000													6	31					0	0	0.00116845	0	0
ADCY8	114	broad.mit.edu	37	8	131792904	131792904	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:131792904C>T	ENST00000286355.5	-	18	5580	c.3488G>A	c.(3487-3489)gGa>gAa	p.G1163E	ADCY8_ENST00000377928.3_Missense_Mutation_p.G1032E	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	1163					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TTTGATTTTTCCTTCCTGTTC	0.512000										HNSCC(32;0.087)			9	44					0	0	0.000442599	0	0
PTK7	5754	broad.mit.edu	37	6	43109755	43109755	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:43109755C>T	ENST00000230419.4	+	12	2076	c.1855C>T	c.(1855-1857)Ccc>Tcc	p.P619S	PTK7_ENST00000345201.2_Missense_Mutation_p.P579S|PTK7_ENST00000349241.2_Missense_Mutation_p.P489S|PTK7_ENST00000352931.2_Missense_Mutation_p.P619S|PTK7_ENST00000481273.1_Missense_Mutation_p.P627S	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	619	Ig-like C2-type 7.				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			CCAGGGGGACCCCAAGCCGCT	0.597000													7	16					0	0	0.00198382	0	0
CADM3	57863	broad.mit.edu	37	1	159166775	159166775	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:159166775G>A	ENST00000368125.4	+	7	1034	c.877G>A	c.(877-879)Gac>Aac	p.D293N	CADM3_ENST00000368124.4_Missense_Mutation_p.D327N|CTA-134P22.2_ENST00000415675.2_RNA|CADM3_ENST00000497636.1_3'UTR	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	293	Ig-like C2-type 2.				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					CAACAAGAGTGACAGTGGCAC	0.562000													10	34					0	0	0.000673444	0	0
ORC1	4998	broad.mit.edu	37	1	52841252	52841252	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:52841252T>C	ENST00000371568.3	-	15	2371	c.2153A>G	c.(2152-2154)gAt>gGt	p.D718G	ORC1_ENST00000371566.1_Missense_Mutation_p.D718G	NM_001190818.1|NM_001190819.1|NM_004153.3	NP_001177747.1|NP_001177748.1|NP_004144.2	Q13415	ORC1_HUMAN	origin recognition complex, subunit 1	718	Necessary and sufficient for ORC complex assembly.				cell cycle checkpoint|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane	ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding			breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CCGTCGTGCATCTCCAGACAG	0.542000													14	47					0	0	0.00244969	0	0
IVD	3712	broad.mit.edu	37	15	40707679	40707679	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:40707679C>T	ENST00000249760.2	+	9	1301	c.958C>T	c.(958-960)Cag>Tag	p.Q320*	IVD_ENST00000479013.2_Nonsense_Mutation_p.Q293*|IVD_ENST00000487418.2_Nonsense_Mutation_p.Q323*	NM_002225.3	NP_002216.2	P26440	IVD_HUMAN	isovaleryl-CoA dehydrogenase	320					leucine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|isovaleryl-CoA dehydrogenase activity			kidney(1)|lung(5)|ovary(2)|prostate(1)	9		all_cancers(109;1.19e-18)|all_epithelial(112;1.52e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.65e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0808)		CGGCCACTTCCAGGTGAGCCG	0.532000													14	10					0	0	0.00244969	0	0
NLRP5	126206	broad.mit.edu	37	19	56561926	56561926	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:56561926G>A	ENST00000390649.3	+	12	3100	c.3100G>A	c.(3100-3102)Gaa>Aaa	p.E1034K		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	1034						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GGTCATGAGAGAACCATCTTG	0.517000													9	31					0	0	0.00136819	0	0
FREM1	158326	broad.mit.edu	37	9	14801743	14801743	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:14801743A>G	ENST00000380881.4	-	21	4419	c.3604T>C	c.(3604-3606)Ttt>Ctt	p.F1202L	FREM1_ENST00000422223.2_Missense_Mutation_p.F1201L|FREM1_ENST00000380880.3_Missense_Mutation_p.F1201L			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1201			S -> R (in dbSNP:rs16932300).		cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TCTTTGCTAAACCCCCTATCG	0.522000													5	26					0	0	0.000602214	0	0
ADAM11	4185	broad.mit.edu	37	17	42854576	42854576	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:42854576G>A	ENST00000200557.6	+	21	1893	c.1724G>A	c.(1723-1725)gGg>gAg	p.G575E	ADAM11_ENST00000535346.1_Missense_Mutation_p.G375E	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11	575	Cys-rich.				integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				AATGTGGAGGGGACGGAGCGT	0.642000													7	42					0	0	0.000673444	0	0
SERBP1	26135	broad.mit.edu	37	1	67895733	67895733	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:67895733G>A	ENST00000370994.4	-	1	365	c.251C>T	c.(250-252)cCc>cTc	p.P84L	SERBP1_ENST00000370995.2_Missense_Mutation_p.P84L|SERBP1_ENST00000370990.5_Missense_Mutation_p.P84L|SERBP1_ENST00000361219.6_Missense_Mutation_p.P84L	NM_001018067.1|NM_001018068.1|NM_001018069.1|NM_015640.3	NP_001018077.1|NP_001018078.1|NP_001018079.1|NP_056455.3	Q8NC51	PAIRB_HUMAN	SERPINE1 mRNA binding protein 1	84					regulation of mRNA stability	nucleus|perinuclear region of cytoplasm	mRNA 3'-UTR binding|protein binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	13						GCCAACGCTGGGGGGCAGCGG	0.627000													26	58					0	0	0.001512	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144859782	144859782	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:144859782C>T	ENST00000369359.4	-	41	6748	c.6710G>A	c.(6709-6711)gGa>gAa	p.G2237E	PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.G1995E|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.G2101E|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.G2101E|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.G2186E|RP4-791M13.4_ENST00000532137.1_RNA			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2101					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CTGCTTGTTTCCAGGGTCAGT	0.572000			T	PDGFRB	MPD								6	42					0	0	0.00198382	0	0
SLC15A3	51296	broad.mit.edu	37	11	60704703	60704703	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:60704703C>T	ENST00000227880.3	-	8	1967	c.1734G>A	c.(1732-1734)agG>agA	p.R578R		NM_016582.2	NP_057666.1	Q8IY34	S15A3_HUMAN	solute carrier family 15 (oligopeptide transporter), member 3	578					oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity	p.R578S(1)		central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)	17						AGCCCCTGTCCCTGCTGAAAC	0.597000													6	15					0	0	0.00198382	0	0
DMXL1	1657	broad.mit.edu	37	5	118485177	118485177	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:118485177T>G	ENST00000311085.8	+	18	3735	c.3655T>G	c.(3655-3657)Tta>Gta	p.L1219V	DMXL1_ENST00000539542.1_Missense_Mutation_p.L1219V	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1219										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		TCCTGTTTCTTTATCGTGGGT	0.443000													28	35					0	0	0.00327116	0	0
DCDC1	341019	broad.mit.edu	37	11	30946866	30946866	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:30946866C>T	ENST00000597505.1	-	21	2986	c.2987G>A	c.(2986-2988)aGa>aAa	p.R996K	DCDC1_ENST00000406071.2_5'UTR|DCDC1_ENST00000339794.5_Missense_Mutation_p.R75K			P59894	DCDC1_HUMAN	doublecortin domain containing 1	231					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					CAGTTCATCTCTTTGCAGGTC	0.338000													25	106					0	0	0.000878237	0	0
FAM179A	165186	broad.mit.edu	37	2	29255882	29255882	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:29255882G>A	ENST00000379558.4	+	15	2446	c.2095G>A	c.(2095-2097)Gac>Aac	p.D699N	FAM179A_ENST00000465300.1_3'UTR|FAM179A_ENST00000403861.2_Missense_Mutation_p.D644N	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	699							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CCCATCTTACGACTTGCAGAA	0.512000													15	20					0	0	0.000958276	0	0
ARFGAP3	26286	broad.mit.edu	37	22	43243540	43243540	+	Silent	SNP	A	A	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr22:43243540A>C	ENST00000263245.5	-	2	387	c.168T>G	c.(166-168)ggT>ggG	p.G56G	ARFGAP3_ENST00000437119.2_Silent_p.G56G|ARFGAP3_ENST00000429508.2_Silent_p.G56G	NM_001142293.1|NM_014570.4	NP_001135765.1|NP_055385.3	Q9NP61	ARFG3_HUMAN	ADP-ribosylation factor GTPase activating protein 3	56	Arf-GAP.				intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport	cytosol|Golgi membrane	ARF GTPase activator activity|protein transporter activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	11						TCAAGTGAACACCAAGTGACC	0.413000													6	14					0	0	0.00116845	0	0
SCN9A	6335	broad.mit.edu	37	2	167143021	167143021	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:167143021C>T	ENST00000303354.6	-	11	1770	c.1430G>A	c.(1429-1431)aGa>aAa	p.R477K	SCN9A_ENST00000409435.1_Missense_Mutation_p.R476K|SCN9A_ENST00000375387.4_Missense_Mutation_p.R477K|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Missense_Mutation_p.R476K			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	476						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)	TCTGTTTCTTCTTTCTTTAGC	0.408000													12	19					0	0	0.000978159	0	0
MCTP1	79772	broad.mit.edu	37	5	94230396	94230396	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:94230396G>A	ENST00000515393.1	-	11	1796	c.1797C>T	c.(1795-1797)tcC>tcT	p.S599S	MCTP1_ENST00000505208.1_Silent_p.S378S|MCTP1_ENST00000312216.8_Silent_p.S378S|MCTP1_ENST00000429576.2_Silent_p.S332S|MCTP1_ENST00000505078.1_Silent_p.S115S	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	599					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		GGTCCTCCAGGGAGTTGACAG	0.507000													6	17					0	0	0.00198382	0	0
TRBV29-1	28558	broad.mit.edu	37	7	142448586	142448586	+	RNA	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:142448586G>A	ENST00000422143.2	+	0	247																											GCCTGACACTGATCGCAACTG	0.502000													7	19					0	0	0.00198382	0	0
PROL1	58503	broad.mit.edu	37	4	71275639	71275639	+	Silent	SNP	A	A	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:71275639A>C	ENST00000399575.2	+	3	768	c.594A>C	c.(592-594)gcA>gcC	p.A198A		NM_021225.4	NP_067048.4	Q99935	PROL1_HUMAN	proline rich, lacrimal 1	198	Thr-rich.				regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				CAACCCCCGCAGCATCTACTG	0.473000													12	55					0	0	0.00136819	0	0
PAK7	57144	broad.mit.edu	37	20	9561213	9561213	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:9561213G>A	ENST00000378429.3	-	5	1115	c.569C>T	c.(568-570)tCc>tTc	p.S190F	PAK7_ENST00000378423.1_Missense_Mutation_p.S190F|PAK7_ENST00000353224.5_Missense_Mutation_p.S190F	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	190	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)			GGCAAAATCGGATTTCAAAGG	0.473000													23	46					0	0	0.00332997	0	0
FABP12	646486	broad.mit.edu	37	8	82439285	82439285	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:82439285C>T	ENST00000360464.4	-	3	380	c.318G>A	c.(316-318)acG>acA	p.T106T	RP11-257P3.3_ENST00000523380.1_RNA	NM_001105281.1	NP_001098751.1	A6NFH5	FBP12_HUMAN	fatty acid binding protein 12	106							lipid binding|transporter activity			large_intestine(1)|lung(3)	4						CCAGCTTTCTCGTTATGGTGG	0.413000													10	44					0	0	0.00136819	0	0
RNF17	56163	broad.mit.edu	37	13	25367433	25367433	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr13:25367433G>A	ENST00000255324.5	+	10	1241	c.1189G>A	c.(1189-1191)Gga>Aga	p.G397R	RNF17_ENST00000255325.5_Missense_Mutation_p.G398R|RNF17_ENST00000255326.4_3'UTR|RNF17_ENST00000381921.1_Missense_Mutation_p.G397R	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	397					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		ACCTCAGATGGGATCTAGCCC	0.378000													19	54					0	0	0.00229938	0	0
SCN3B	55800	broad.mit.edu	37	11	123508998	123508998	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:123508998G>A	ENST00000392770.2	-	4	1282	c.480C>T	c.(478-480)atC>atT	p.I160I	SCN3B_ENST00000530277.1_Silent_p.I160I|SCN3B_ENST00000299333.3_Silent_p.I160I	NM_018400.3	NP_060870.1	Q9NY72	SCN3B_HUMAN	sodium channel, voltage-gated, type III, beta subunit	160					axon guidance	integral to membrane|plasma membrane	voltage-gated sodium channel activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2)	26		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)		TGTACATCATGATTTCTGAGA	0.463000													9	36					0	0	0.000442599	0	0
OR5K4	403278	broad.mit.edu	37	3	98073283	98073283	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:98073283G>A	ENST00000354924.2	+	1	586	c.586G>A	c.(586-588)Gaa>Aaa	p.E196K	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005517.1	NP_001005517.1	A6NMS3	OR5K4_HUMAN	olfactory receptor, family 5, subfamily K, member 4	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						TTCTATTAATGAACTAATGAT	0.308000													11	42					0	0	0.000978159	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101816075	101816075	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:101816075G>A	ENST00000506729.1	-	2	593	c.422C>T	c.(421-423)aCc>aTc	p.T141I	SLCO6A1_ENST00000379810.1_Missense_Mutation_p.T141I|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.T141I|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.T141I|SLCO6A1_ENST00000514551.1_5'UTR|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.T141I			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	141						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		CTTCTCAATGGTTTTCAGTTG	0.338000													14	48					0	0	0.00185496	0	0
SCN7A	6332	broad.mit.edu	37	2	167284355	167284355	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:167284355C>T	ENST00000409855.1	-	17	2922	c.2796G>A	c.(2794-2796)gaG>gaA	p.E932E		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	932					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						ACCAATTGTTCTCTACAATCT	0.463000													4	11					0	0	0.00024832	0	0
ZNF230	7773	broad.mit.edu	37	19	44514591	44514591	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:44514591C>T	ENST00000429154.2	+	5	628	c.400C>T	c.(400-402)Cat>Tat	p.H134Y		NM_006300.3	NP_006291.2	Q9UIE0	ZN230_HUMAN	zinc finger protein 230	134	KRNB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22		Prostate(69;0.0352)				ATCTATAATTCATACAGGACA	0.438000													8	46					0	0	0.000442599	0	0
PLCB1	23236	broad.mit.edu	37	20	8678311	8678311	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:8678311C>T	ENST00000378641.3	+	11	1523	c.1048C>T	c.(1048-1050)Cgc>Tgc	p.R350C	PLCB1_ENST00000378637.2_Missense_Mutation_p.R350C|PLCB1_ENST00000338037.6_Missense_Mutation_p.R350C	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	350	PI-PLC X-box.				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	p.R350C(1)		NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						TGAGATGTATCGCCAAGTGCT	0.522000													20	84					0	0	0.00188189	0	0
PKD1L1	168507	broad.mit.edu	37	7	47947802	47947802	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:47947802C>T	ENST00000289672.2	-	9	1324	c.1274G>A	c.(1273-1275)gGa>gAa	p.G425E		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	425					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CACTTCGGTTCCATGAAACTC	0.418000													10	57					0	0	0.00136819	0	0
GATAD2B	57459	broad.mit.edu	37	1	153791328	153791328	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:153791328C>T	ENST00000368655.4	-	4	779	c.536G>A	c.(535-537)cGa>cAa	p.R179Q		NM_020699.2	NP_065750.1	Q8WXI9	P66B_HUMAN	GATA zinc finger domain containing 2B	179	CR1.					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CAGGACCAGTCGGGCTTCTTC	0.473000													24	65					0	0	0.00332997	0	0
DSEL	92126	broad.mit.edu	37	18	65178404	65178404	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:65178404G>A	ENST00000310045.7	-	2	4945	c.3472C>T	c.(3472-3474)Cct>Tct	p.P1158S	CTD-2541J13.2_ENST00000583493.1_RNA|CTD-2541J13.2_ENST00000581951.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	1148						integral to membrane	isomerase activity|sulfotransferase activity	p.P1158S(1)		NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				GGAGACAAAGGAATTCCAAGA	0.373000													5	43					0	0	0.00116845	0	0
ETS2	2114	broad.mit.edu	37	21	40191548	40191548	+	Silent	SNP	C	C	T	rs113417859	by1000genomes	TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr21:40191548C>T	ENST00000360214.3	+	9	1393	c.933C>T	c.(931-933)ttC>ttT	p.F311F	ETS2_ENST00000360938.3_Silent_p.F311F	NM_001256295.1	NP_001243224.1	P15036	ETS2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 2	311					positive regulation of transcription, DNA-dependent|skeletal system development	nucleus	protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18		Prostate(19;6.33e-08)|all_epithelial(19;0.123)				TTCCTTCCTTCGAGAGCTTCG	0.552000													5	10					0	0	0.000602214	0	0
MAGIX	79917	broad.mit.edu	37	X	49021369	49021369	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:49021369C>T	ENST00000376338.3	+	2	350	c.271C>T	c.(271-273)Ccg>Tcg	p.P91S	MAGIX_ENST00000425661.2_Intron|MAGIX_ENST00000498742.1_3'UTR|MAGIX_ENST00000412696.2_Missense_Mutation_p.P150S|MAGIX_ENST00000376339.1_Missense_Mutation_p.P91S			Q9H6Y5	MAGIX_HUMAN	MAGI family member, X-linked	150																	TGGGGACACTCCGCTGGCCGT	0.642000													9	18					0	0	0.000978159	0	0
ABCB11	8647	broad.mit.edu	37	2	169874614	169874614	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:169874614G>A	ENST00000263817.6	-	2	146	c.22C>T	c.(22-24)Cga>Tga	p.R8*		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	8					bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	TTTATACTTCGAAGAATTACT	0.358000													25	44					0	0	0.000720815	0	0
C11orf65	160140	broad.mit.edu	37	11	108332209	108332209	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:108332209G>A	ENST00000525729.1	-	2	147	c.78C>T	c.(76-78)ttC>ttT	p.F26F	C11orf65_ENST00000529391.1_Silent_p.F26F|C11orf65_ENST00000393084.1_Silent_p.F26F			Q8NCR3	CK065_HUMAN	chromosome 11 open reading frame 65	26										endometrium(1)|large_intestine(3)|lung(4)|ovary(2)	10		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;8.21e-06)|BRCA - Breast invasive adenocarcinoma(274;1.01e-05)|all cancers(92;0.000189)|Colorectal(284;0.114)|OV - Ovarian serous cystadenocarcinoma(223;0.144)		AACTCACAAGGAAACTTTTCC	0.303000													50	216					0	0	0.00361006	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12854487	12854487	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:12854487C>T	ENST00000332296.7	+	3	814	c.711C>T	c.(709-711)ctC>ctT	p.L237L		NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	237										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)		TTCGCAAACTCGTTTTCTCCA	0.448000													52	218					0	0	0.00361006	0	0
FCGBP	8857	broad.mit.edu	37	19	40430384	40430384	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:40430384C>T	ENST00000221347.6	-	3	1566	c.1559G>A	c.(1558-1560)cGg>cAg	p.R520Q		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	520	VWFD 1.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GCGGCTGCCCCGGTGCTCGTT	0.652000													4	15					0	0	0.000602214	0	0
LYPD1	116372	broad.mit.edu	37	2	133403776	133403776	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:133403776G>A	ENST00000397463.2	-	3	540	c.268C>T	c.(268-270)Cca>Tca	p.P90S	GPR39_ENST00000329321.3_3'UTR|GPR39_ENST00000470071.1_3'UTR|LYPD1_ENST00000345008.6_Missense_Mutation_p.P38S	NM_144586.5	NP_653187.3	Q8N2G4	LYPD1_HUMAN	LY6/PLAUR domain containing 1	90	UPAR/Ly6.					anchored to membrane|plasma membrane				lung(2)	2						AGTTTCCCTGGGGAGCAGAAG	0.577000													8	21					0	0	0.00307968	0	0
FER1L6	654463	broad.mit.edu	37	8	124998379	124998379	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:124998379G>A	ENST00000522917.1	+	12	1688	c.1482G>A	c.(1480-1482)aaG>aaA	p.K494K	FER1L6_ENST00000399018.1_Silent_p.K494K|FER1L6-AS1_ENST00000518567.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	494						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TTGACCGGAAGATTGGAGATA	0.343000													17	110					0	0	0.00121646	0	0
CFB	629	broad.mit.edu	37	6	31911087	31911087	+	Silent	SNP	C	C	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:31911087C>A	ENST00000456570.1	+	8	1042	c.987C>A	c.(985-987)gtC>gtA	p.V329V	CFB_ENST00000477310.1_Silent_p.V253V|C2_ENST00000442278.2_Silent_p.V350V|C2_ENST00000452323.2_Silent_p.V268V|C2_ENST00000469372.1_Silent_p.V236V|C2_ENST00000299367.5_Silent_p.V482V|CFB_ENST00000556679.1_Silent_p.V329V			P00751	CFAB_HUMAN	complement factor B	497	VWFA.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						CCTGGCATGTCACTATTAAGG	0.552000													28	190					8.53417e-09	2.48609e-08	0.00283554	1	0
TMEM229B	161145	broad.mit.edu	37	14	67940539	67940539	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:67940539C>T	ENST00000357461.2	-	3	511	c.102G>A	c.(100-102)gtG>gtA	p.V34V	TMEM229B_ENST00000557006.1_Silent_p.V34V	NM_182526.2	NP_872332.1	Q8NBD8	T229B_HUMAN	transmembrane protein 229B	34						integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						TCAAGTTCACCACGAACTCCC	0.622000													6	11					0	0	0.000274275	0	0
HDAC9	9734	broad.mit.edu	37	7	18705996	18705996	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:18705996G>A	ENST00000406451.3	+	12	1769	c.1619G>A	c.(1618-1620)gGa>gAa	p.G540E	HDAC9_ENST00000406072.1_Missense_Mutation_p.G527E|HDAC9_ENST00000405010.3_Missense_Mutation_p.G540E|HDAC9_ENST00000524023.1_Missense_Mutation_p.G463E|HDAC9_ENST00000428307.2_Missense_Mutation_p.G496E|HDAC9_ENST00000456174.2_Missense_Mutation_p.G512E|HDAC9_ENST00000417496.2_Missense_Mutation_p.G538E|HDAC9_ENST00000441542.2_Missense_Mutation_p.G543E|HDAC9_ENST00000401921.1_Missense_Mutation_p.G499E|HDAC9_ENST00000432645.2_Missense_Mutation_p.G540E	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	540					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	GACACACTGGGACAAGTTGGG	0.547000											OREG0017877	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	7					0	0	0.00024832	0	0
KCNU1	157855	broad.mit.edu	37	8	36675216	36675216	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:36675216C>G	ENST00000399881.3	+	10	1081	c.1044C>G	c.(1042-1044)ttC>ttG	p.F348L		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	348	RCK N-terminal.					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		TGACCGCTTTCCTGAGGAATT	0.453000													12	101					0	0	0.00136819	0	0
UGT2B4	7363	broad.mit.edu	37	4	70361013	70361013	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:70361013G>A	ENST00000305107.6	-	1	613	c.567C>T	c.(565-567)ttC>ttT	p.F189F	UGT2B4_ENST00000506580.1_Intron|UGT2B4_ENST00000381096.3_Silent_p.F53F|UGT2B4_ENST00000512583.1_Silent_p.F189F	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	189					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						AGGAAGGAGGGAACAGAAGTC	0.413000													6	19					0	0	0.000274275	0	0
CXorf36	79742	broad.mit.edu	37	X	45011044	45011044	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:45011044G>A	ENST00000398000.2	-	5	1229	c.1155C>T	c.(1153-1155)atC>atT	p.I385I	CXorf36_ENST00000477281.1_5'UTR	NM_176819.3	NP_789789.2	Q9H7Y0	CX036_HUMAN	chromosome X open reading frame 36	385						extracellular region				endometrium(1)|large_intestine(2)|lung(4)	7						ACTGAACAAGGATGGAGTCTA	0.587000													5	22					0	0	0.000602214	0	0
YLPM1	56252	broad.mit.edu	37	14	75276307	75276307	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:75276307C>T	ENST00000325680.7	+	7	4870	c.4746C>T	c.(4744-4746)ctC>ctT	p.L1582L	YLPM1_ENST00000238571.3_Silent_p.L1387L|YLPM1_ENST00000552421.1_Silent_p.L876L	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	1387					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		TCTATGGGCTCTGGGATACAA	0.463000													9	8					0	0	0.000673444	0	0
RHAG	6005	broad.mit.edu	37	6	49582466	49582466	+	Silent	SNP	G	G	A	rs151209252		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:49582466G>A	ENST00000371175.4	-	5	767	c.741C>T	c.(739-741)ctC>ctT	p.L247L	RHAG_ENST00000229810.7_Silent_p.L247L	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN	Rh-associated glycoprotein	247					carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					CACAGGCAGCGAGAGAGAAGT	0.527000													15	73					0	0	0.00316338	0	0
MEGF8	1954	broad.mit.edu	37	19	42848597	42848597	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:42848597C>T	ENST00000334370.4	+	11	2428	c.1793C>T	c.(1792-1794)cCa>cTa	p.P598L	MEGF8_ENST00000251268.6_Missense_Mutation_p.P598L	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	598	PSI 1.					integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				TCGCAGTGTCCAGCCGCCAGC	0.667000													7	41					0	0	0.000673444	0	0
SOCS7	30837	broad.mit.edu	37	17	36522283	36522283	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:36522283C>T	ENST00000577233.1	+	5	1174	c.1174C>T	c.(1174-1176)Ctt>Ttt	p.L392F	SOCS7_ENST00000331159.5_Missense_Mutation_p.L358F	NM_014598.2	NP_055413.1	O14512	SOCS7_HUMAN	suppressor of cytokine signaling 7	392	Mediates interaction with SORBS3.				intracellular signal transduction|negative regulation of signal transduction|regulation of growth	cytoplasm|nucleus|plasma membrane	protein binding|SH3 domain binding			central_nervous_system(1)|endometrium(1)|kidney(1)|prostate(1)|skin(5)	9	Breast(7;3.47e-17)					TGCAGCCAGCCTTCGAGAGTT	0.537000													12	45					0	0	0.00185496	0	0
ZNF585B	92285	broad.mit.edu	37	19	37677885	37677885	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:37677885G>A	ENST00000532828.2	-	5	805	c.554C>T	c.(553-555)cCc>cTc	p.P185L	CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000312908.5_Intron|ZNF585B_ENST00000531805.1_Missense_Mutation_p.P130L|ZNF585B_ENST00000527838.1_Intron	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	185					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)			GCACTTATAGGGCTTCTCTCT	0.378000													19	57					0	0	0.000958276	0	0
BDP1	55814	broad.mit.edu	37	5	70785300	70785300	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:70785300C>G	ENST00000358731.4	+	10	1546	c.1283C>G	c.(1282-1284)aCg>aGg	p.T428R	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	428	Required for phosphorylation by CSNK2A1.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		ATTTCAGACACGGAAAGATCT	0.378000													14	52					0	0	0.000566183	0	0
PIGO	84720	broad.mit.edu	37	9	35092159	35092159	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:35092159G>A	ENST00000378617.3	-	7	2119	c.1725C>T	c.(1723-1725)ttC>ttT	p.F575F	PIGO_ENST00000298004.5_Intron|PIGO_ENST00000341666.3_Silent_p.F575F|PIGO_ENST00000361778.2_Intron	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	575					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			AGCCCAAAAGGAAGGGGGTGG	0.562000													10	6					0	0	0.000442599	0	0
CCDC11	220136	broad.mit.edu	37	18	47777208	47777208	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:47777208C>T	ENST00000398545.4	-	5	1033	c.916G>A	c.(916-918)Gaa>Aaa	p.E306K		NM_145020.3	NP_659457.2	Q96M91	CCD11_HUMAN	coiled-coil domain containing 11	306								p.E306*(1)		endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		AAGTCCTGTTCGTCTCTGTAT	0.408000													46	247					0	0	0.00361006	0	0
THRB	7068	broad.mit.edu	37	3	24169139	24169139	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:24169139C>T	ENST00000396671.2	-	10	1343	c.995G>A	c.(994-996)gGg>gAg	p.G332E	THRB_ENST00000416420.1_Missense_Mutation_p.G332E|THRB_ENST00000356447.4_Missense_Mutation_p.G332E|THRB_ENST00000280696.5_Missense_Mutation_p.G347E	NM_001128176.2	NP_001121648.1	P10828	THB_HUMAN	thyroid hormone receptor, beta	332	Interaction with NR2F6.|Ligand-binding.		G -> R (in GTHR; dbSNP:rs28999969).		regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3)	19					Levothyroxine(DB00451)|Liothyronine(DB00279)	TGCCATTTCCCCATTCAAGGT	0.532000													5	41					0	0	0.000602214	0	0
SLFN12L	100506736	broad.mit.edu	37	17	33806470	33806470	+	Silent	SNP	T	T	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:33806470T>A	ENST00000260908.7	-	2	876	c.759A>T	c.(757-759)ggA>ggT	p.G253G	SLFN12L_ENST00000361112.4_Silent_p.G282G|SLFN12L_ENST00000449046.1_Silent_p.G284G	NM_001195790.1	NP_001182719.1	Q6IEE8	SN12L_HUMAN	schlafen family member 12-like	285						integral to membrane	ATP binding			breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1)	16						CGAATAAATATCCTCCATCAG	0.318000													17	57					0	0	0.00074312	0	0
CACNA2D2	9254	broad.mit.edu	37	3	50417203	50417203	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:50417203C>T	ENST00000435965.1	-	10	1119	c.946G>A	c.(946-948)Gag>Aag	p.E316K	CACNA2D2_ENST00000479441.1_Missense_Mutation_p.E316K|CACNA2D2_ENST00000429770.1_Missense_Mutation_p.E316K|CACNA2D2_ENST00000424201.2_Missense_Mutation_p.E316K|CACNA2D2_ENST00000423994.2_Missense_Mutation_p.E316K|CACNA2D2_ENST00000395083.1_Missense_Mutation_p.E316K|CACNA2D2_ENST00000360963.3_Missense_Mutation_p.E247K|CACNA2D2_ENST00000266039.3_Missense_Mutation_p.E316K			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	316	VWFA.				energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	TCCAGCATCTCGCAGACAGAT	0.597000													9	28					0	0	0.000673444	0	0
PCLO	27445	broad.mit.edu	37	7	82583700	82583700	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:82583700G>A	ENST00000423517.2	-	5	6906	c.6569C>T	c.(6568-6570)tCg>tTg	p.S2190L	PCLO_ENST00000333891.8_Missense_Mutation_p.S2190L	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2121					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						GGTACAGACCGAAGAAACAGA	0.443000													8	45					0	0	0.000673444	0	0
ATP6V0A4	50617	broad.mit.edu	37	7	138437493	138437493	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:138437493C>T	ENST00000310018.2	-	11	1188	c.906G>A	c.(904-906)atG>atA	p.M302I	ATP6V0A4_ENST00000353492.4_Missense_Mutation_p.M302I|ATP6V0A4_ENST00000393054.1_Missense_Mutation_p.M302I	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	302					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						AGACAGCTTTCATCTTCTGCA	0.537000													8	82					0	0	0.00307968	0	0
PAK7	57144	broad.mit.edu	37	20	9525085	9525085	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:9525085C>T	ENST00000378429.3	-	9	2346	c.1800G>A	c.(1798-1800)agG>agA	p.R600R	PAK7_ENST00000378423.1_Silent_p.R600R|PAK7_ENST00000353224.5_Silent_p.R600R	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	600	Protein kinase.						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)			CCAATGATTTCCTCTTCGGCA	0.453000													24	44					0	0	0.00229938	0	0
MGAM	8972	broad.mit.edu	37	7	141720877	141720877	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:141720877C>T	ENST00000475668.2	+	5	606	c.552C>T	c.(550-552)caC>caT	p.H184H	MGAM_ENST00000549489.2_Silent_p.H184H			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	184					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)	ATCGTTTCCACTTTAAGGTTG	0.343000													33	30					0	0	0.00327116	0	0
ZNF586	54807	broad.mit.edu	37	19	58291138	58291138	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:58291138C>T	ENST00000391702.3	+	4	1421	c.1054C>T	c.(1054-1056)Cat>Tat	p.H352Y	ZNF586_ENST00000599802.1_Intron|ZNF586_ENST00000396150.4_3'UTR|ZNF586_ENST00000598183.1_Intron|ZNF586_ENST00000598885.1_Intron|ZNF586_ENST00000396154.2_Missense_Mutation_p.H395Y	NM_001204814.1	NP_001191743.1	Q9NXT0	ZN586_HUMAN	zinc finger protein 586	395					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)	15		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TCAGAGAGTTCATACTGGAAT	0.438000													8	57					0	0	0.000442599	0	0
GLI1	2735	broad.mit.edu	37	12	57865064	57865064	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:57865064C>T	ENST00000228682.2	+	12	2632	c.2541C>T	c.(2539-2541)ctC>ctT	p.L847L	GLI1_ENST00000546141.1_Silent_p.L806L|GLI1_ENST00000543426.1_Silent_p.L719L	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	847					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			CACAGCCTCTCTTTTCCCATT	0.612000													7	21					0	0	0.000274275	0	0
ZNF107	51427	broad.mit.edu	37	7	64166713	64166713	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:64166713C>T	ENST00000395391.1	+	4	1406	c.31C>T	c.(31-33)Cat>Tat	p.H11Y	ZNF107_ENST00000423627.1_Missense_Mutation_p.H11Y|ZNF107_ENST00000344930.3_Missense_Mutation_p.H11Y			Q9UII5	ZN107_HUMAN	zinc finger protein 107	11					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				AATGTCTTTTCATTTTGCCCA	0.299000													9	94					0	0	0.000978159	0	0
GPR98	84059	broad.mit.edu	37	5	89949105	89949105	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:89949105C>T	ENST00000405460.2	+	20	3810	c.3714C>T	c.(3712-3714)ccC>ccT	p.P1238P		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1238					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ATGATGATCCCTTTGGAGTTT	0.428000													5	18					0	0	0.000602214	0	0
TTN	7273	broad.mit.edu	37	2	179647698	179647698	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:179647698C>T	ENST00000589042.1	-	18	3159	c.2935G>A	c.(2935-2937)Gaa>Aaa	p.E979K	TTN_ENST00000342175.6_Missense_Mutation_p.E933K|TTN_ENST00000460472.2_Missense_Mutation_p.E933K|TTN_ENST00000360870.5_Missense_Mutation_p.E979K|TTN_ENST00000342992.6_Missense_Mutation_p.E979K|TTN_ENST00000591111.1_Missense_Mutation_p.E979K|TTN_ENST00000359218.5_Missense_Mutation_p.E933K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	979	Ig-like 3.						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)			TGGTAGTCTTCCCTGTACCAT	0.478000													13	33					0	0	0.00316338	0	0
CNTN1	1272	broad.mit.edu	37	12	41463807	41463807	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:41463807C>T	ENST00000551295.2	+	24	3144	c.3027C>T	c.(3025-3027)gcC>gcT	p.A1009A	CNTN1_ENST00000348761.2_Silent_p.A998A|CNTN1_ENST00000347616.1_Silent_p.A1009A	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	1009					axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				TGCTGCCTGCCTTTGGCATCC	0.473000													15	49					0	0	0.00316338	0	0
ABCA12	26154	broad.mit.edu	37	2	215928821	215928821	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:215928821C>T	ENST00000272895.7	-	3	504	c.285G>A	c.(283-285)agG>agA	p.R95R		NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	95					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CAATTCCTTTCCTACGAAGCA	0.438000													24	30					0	0	0.00278032	0	0
KSR2	283455	broad.mit.edu	37	12	117962911	117962911	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:117962911G>A	ENST00000425217.1	-	14	1932	c.1878C>T	c.(1876-1878)ttC>ttT	p.F626F	KSR2_ENST00000339824.5_Silent_p.F655F|KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000302438.5_Silent_p.F352F	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	655					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ACTCCTGAAGGAAGATGCTGG	0.607000													7	39					0	0	0.00307968	0	0
GABRE	2564	broad.mit.edu	37	X	151130984	151130984	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:151130984C>T	ENST00000370325.1	-	4	527	c.474G>A	c.(472-474)agG>agA	p.R158R	GABRE_ENST00000370328.3_Silent_p.R158R|GABRE_ENST00000393914.3_5'UTR			P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	158					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TCTTAGAATTCCTAAAAAAGG	0.493000													6	28					0	0	0.00116845	0	0
BTN3A1	11119	broad.mit.edu	37	6	26408020	26408020	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:26408020G>A	ENST00000289361.6	+	4	923	c.555G>A	c.(553-555)gaG>gaA	p.E185E	BTN3A1_ENST00000476549.2_Silent_p.E185E|BTN3A1_ENST00000425234.2_Silent_p.E185E|BTN3A1_ENST00000414912.2_Intron	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1	185	Ig-like V-type 2.				lipid metabolic process	integral to membrane				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						ACAAGGGAGAGAACATCCCGA	0.547000													15	70					0	0	0.00400662	0	0
CAPN13	92291	broad.mit.edu	37	2	30977163	30977163	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:30977163C>T	ENST00000295055.8	-	9	1110	c.934G>A	c.(934-936)Gag>Aag	p.E312K	CAPN13_ENST00000534090.2_Missense_Mutation_p.E312K	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	312	Calpain catalytic.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					TACCAAAACTCGCCATCTTCC	0.448000													4	16					0	0	0.00116845	0	0
KRTAP19-3	337970	broad.mit.edu	37	21	31864169	31864169	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr21:31864169C>T	ENST00000334063.4	-	1	106	c.107G>A	c.(106-108)gGt>gAt	p.G36D		NM_181609.3	NP_853640.1	Q7Z4W3	KR193_HUMAN	keratin associated protein 19-3	36						intermediate filament				large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	9						ACAGCCAGAACCCAGTCTGCG	0.587000													18	59					0	0	0.00121646	0	0
APOL3	80833	broad.mit.edu	37	22	36538042	36538042	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr22:36538042C>T	ENST00000397293.2	-	4	549	c.202G>A	c.(202-204)Gaa>Aaa	p.E68K	APOL3_ENST00000349314.2_Missense_Mutation_p.E139K|APOL3_ENST00000397287.2_5'UTR|APOL3_ENST00000487423.1_5'UTR|APOL3_ENST00000424878.2_5'UTR|APOL3_ENST00000361710.2_5'UTR			O95236	APOL3_HUMAN	apolipoprotein L, 3	139					inflammatory response|lipoprotein metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	lipid binding|lipid transporter activity|signal transducer activity			endometrium(2)|large_intestine(1)|lung(1)|stomach(1)	5						TGCACATATTCGTCCTCAATA	0.438000													14	38					0	0	0.00185496	0	0
WDR18	57418	broad.mit.edu	37	19	989777	989777	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:989777C>T	ENST00000251289.5	+	3	360	c.337C>T	c.(337-339)Ctt>Ttt	p.L113F	WDR18_ENST00000587001.2_Missense_Mutation_p.L113F|WDR18_ENST00000591997.1_3'UTR	NM_024100.3	NP_077005.2	Q9BV38	WDR18_HUMAN	WD repeat domain 18	113										endometrium(1)|kidney(2)|lung(2)|skin(2)	7		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|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)		CACCGGGAACCTTCTGGTCAT	0.627000													12	35					0	0	0.00316338	0	0
CALCR	799	broad.mit.edu	37	7	93065372	93065372	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:93065372G>A	ENST00000359558.2	-	14	1442	c.1143C>T	c.(1141-1143)atC>atT	p.I381I	CALCR_ENST00000426151.1_Silent_p.I347I|CALCR_ENST00000360249.4_Silent_p.I363I|CALCR_ENST00000394441.1_Silent_p.I347I|CALCR_ENST00000421592.1_Silent_p.I363I	NM_001164737.1	NP_001158209.1	P30988	CALCR_HUMAN	calcitonin receptor	363					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	GGGGCACAAGGATCATGGTGG	0.493000													5	38					0	0	0.000602214	0	0
ERMP1	79956	broad.mit.edu	37	9	5830894	5830894	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:5830894G>A	ENST00000339450.5	-	2	562	c.473C>T	c.(472-474)tCa>tTa	p.S158L	ERMP1_ENST00000214893.5_5'UTR	NM_024896.2	NP_079172.2	Q7Z2K6	ERMP1_HUMAN	endoplasmic reticulum metallopeptidase 1	158					proteolysis	endoplasmic reticulum membrane|integral to membrane	metal ion binding|metallopeptidase activity			endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1)	20		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)		TACATCTACTGAAATCTTATG	0.403000													13	21					0	0	0.00400662	0	0
CD46	4179	broad.mit.edu	37	1	207925591	207925591	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:207925591C>T	ENST00000358170.2	+	1	190	c.34C>T	c.(34-36)Cct>Tct	p.P12S	CD46_ENST00000367042.1_Missense_Mutation_p.P12S|CD46_ENST00000357714.1_Missense_Mutation_p.P12S|CD46_ENST00000469535.1_3'UTR|CD46_ENST00000480003.1_Missense_Mutation_p.P12S|CD46_ENST00000354848.1_Missense_Mutation_p.P12S|CD46_ENST00000322918.5_Missense_Mutation_p.P12S|CD46_ENST00000367047.1_Missense_Mutation_p.P12S|CD46_ENST00000322875.4_Missense_Mutation_p.P12S|CD46_ENST00000360212.2_Missense_Mutation_p.P12S|CD46_ENST00000367041.1_Missense_Mutation_p.P12S|CD46_ENST00000441839.2_Missense_Mutation_p.P12S|CD46_ENST00000361067.1_Missense_Mutation_p.P12S	NM_002389.4	NP_002380.3	P15529	MCP_HUMAN	CD46 molecule, complement regulatory protein	12					complement activation, classical pathway|innate immune response|interspecies interaction between organisms|single fertilization	inner acrosomal membrane|integral to plasma membrane	protein binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	19						GTGTCCCTTTCCTTCCTGGCG	0.667000													27	157					0	0	0.00178596	0	0
GRM7	2917	broad.mit.edu	37	3	7348259	7348259	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:7348259C>T	ENST00000486284.1	+	4	1227	c.953C>T	c.(952-954)tCc>tTc	p.S318F	GRM7_ENST00000403881.1_Missense_Mutation_p.S318F|GRM7_ENST00000402647.2_Missense_Mutation_p.S318F|GRM7_ENST00000389336.4_Missense_Mutation_p.S318F|GRM7_ENST00000357716.4_Missense_Mutation_p.S318F	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	318					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	AGCTGGGGATCCAAAATAAAC	0.498000													8	36					0	0	0.00307968	0	0
MAP10	54627	broad.mit.edu	37	1	232940797	232940797	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:232940797T>A	ENST00000418460.1	+	1	155	c.28T>A	c.(28-30)Tgg>Agg	p.W10R		NM_019090.2	NP_061963.2			microtubule-associated protein 10																		GTTAACTAACTGGCTCTGTTT	0.473000													16	106					0	0	0.00121646	0	0
LMX1B	4010	broad.mit.edu	37	9	129453266	129453266	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:129453266G>A	ENST00000355497.5	+	3	485	c.478G>A	c.(478-480)Gag>Aag	p.E160K	LMX1B_ENST00000373474.4_Missense_Mutation_p.E160K|LMX1B_ENST00000526117.1_Missense_Mutation_p.E160K|LMX1B_ENST00000425646.2_Missense_Mutation_p.E137K|LMX1B_ENST00000561065.1_Missense_Mutation_p.E137K	NM_001174146.1	NP_001167617.1	O60663	LMX1B_HUMAN	LIM homeobox transcription factor 1, beta	137					dorsal/ventral pattern formation|in utero embryonic development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						CGTGCTCAAGGAGGGCCAGCT	0.637000									Nail-Patella Syndrome				4	6					0	0	0.000602214	0	0
AKAP3	10566	broad.mit.edu	37	12	4737076	4737076	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:4737076G>A	ENST00000545990.2	-	5	1516	c.992C>T	c.(991-993)tCg>tTg	p.S331L	AKAP3_ENST00000228850.1_Missense_Mutation_p.S331L	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	331					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						GATGAGATCCGAGACCACCTC	0.483000													8	19					0	0	0.000274275	0	0
EXOC7	23265	broad.mit.edu	37	17	74084899	74084899	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:74084899G>A	ENST00000607838.1	-	10	1316	c.1222C>T	c.(1222-1224)Ctg>Ttg	p.L408L	EXOC7_ENST00000405575.4_Silent_p.L408L|EXOC7_ENST00000589210.1_Silent_p.L385L|EXOC7_ENST00000411744.2_Silent_p.L377L|EXOC7_ENST00000332065.5_Silent_p.L354L|EXOC7_ENST00000467929.2_Silent_p.L344L|EXOC7_ENST00000335146.7_Silent_p.L436L	NM_001145297.2|NM_001145298.2|NM_001145299.2	NP_001138769.1|NP_001138770.1|NP_001138771.1	Q9UPT5	EXOC7_HUMAN	exocyst complex component 7	436					exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14			LUSC - Lung squamous cell carcinoma(166;0.187)			AGGTGTCGCAGGATGGGGAAG	0.607000													11	35					0	0	0.000673444	0	0
TSSC4	10078	broad.mit.edu	37	11	2423940	2423940	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:2423940C>T	ENST00000333256.6	+	3	520	c.77C>T	c.(76-78)tCc>tTc	p.S26F	TSSC4_ENST00000380992.1_Intron|TSSC4_ENST00000451491.2_Missense_Mutation_p.S26F|TSSC4_ENST00000380996.5_Intron			Q9Y5U2	TSSC4_HUMAN	tumor suppressing subtransferable candidate 4	26										endometrium(3)|large_intestine(1)|lung(4)	8		all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.00145)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACGCTGCCTTCCGACACAGTC	0.657000													20	69					0	0	0.00395357	0	0
POLQ	10721	broad.mit.edu	37	3	121228972	121228972	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:121228972A>G	ENST00000264233.5	-	11	1858	c.1730T>C	c.(1729-1731)gTt>gCt	p.V577A		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	577					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TCCAAGCTGAACAGACTCTTG	0.433000								DNA polymerases (catalytic subunits)					17	121					0	0	0.000566183	0	0
SULT1C3	442038	broad.mit.edu	37	2	108863729	108863729	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:108863729C>T	ENST00000329106.2	+	1	79	c.79C>T	c.(79-81)Cct>Tct	p.P27S	SULT1C3_ENST00000376700.1_Missense_Mutation_p.P27S	NM_001008743.1	NP_001008743.1	Q6IMI6	ST1C3_HUMAN	sulfotransferase family, cytosolic, 1C, member 3	27						cytoplasm	alcohol sulfotransferase activity			breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						AGATGGAGTCCCTACGTTGAT	0.418000													11	43					0	0	0.00136819	0	0
EYS	346007	broad.mit.edu	37	6	66200553	66200553	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:66200553A>T	ENST00000503581.1	-	5	1333	c.796T>A	c.(796-798)Ttc>Atc	p.F266I	EYS_ENST00000370616.2_Missense_Mutation_p.F266I|EYS_ENST00000370618.3_Missense_Mutation_p.F266I|EYS_ENST00000370621.3_Missense_Mutation_p.F266I|EYS_ENST00000342421.5_Missense_Mutation_p.F266I|EYS_ENST00000393380.2_Missense_Mutation_p.F266I	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	266	EGF-like 3.				response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TTTCCATGGAAACAGACATGT	0.299000													21	42					0	0	0.000878237	0	0
UACA	55075	broad.mit.edu	37	15	70959232	70959232	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:70959232G>A	ENST00000322954.6	-	16	3976	c.3791C>T	c.(3790-3792)gCc>gTc	p.A1264V	UACA_ENST00000379983.2_Missense_Mutation_p.A1251V|UACA_ENST00000560441.1_Missense_Mutation_p.A1249V|UACA_ENST00000539319.1_Missense_Mutation_p.A1155V	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	1264						cytoskeleton|extracellular region				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						CTTCTTTTTGGCATGCAAAAC	0.353000													45	89					0	0	0.00361006	0	0
STMN4	81551	broad.mit.edu	37	8	27098663	27098663	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:27098663C>T	ENST00000350889.4	-	5	420	c.307G>A	c.(307-309)Gtt>Att	p.V103I	STMN4_ENST00000523048.1_Missense_Mutation_p.V103I|STMN4_ENST00000519614.1_Missense_Mutation_p.V76I|STMN4_ENST00000519997.1_Missense_Mutation_p.V67I|STMN4_ENST00000265770.7_Missense_Mutation_p.V76I|STMN4_ENST00000522908.1_Missense_Mutation_p.V103I	NM_030795.2	NP_110422.2	Q9H169	STMN4_HUMAN	stathmin-like 4	76					intracellular signal transduction					endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)	11		Ovarian(32;0.00167)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0214)|Epithelial(17;9.82e-10)|Colorectal(74;0.142)		AACTCGGGAACCCCATCAAAG	0.542000													12	55					0	0	0.00400662	0	0
PIGK	10026	broad.mit.edu	37	1	77620211	77620211	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:77620211G>A	ENST00000370812.3	-	9	932	c.909C>T	c.(907-909)ttC>ttT	p.F303F	PIGK_ENST00000445065.1_Silent_p.F209F|PIGK_ENST00000370813.5_Silent_p.F227F|PIGK_ENST00000478391.1_5'UTR|PIGK_ENST00000359130.1_Silent_p.F303F	NM_005482.2	NP_005473.1	Q92643	GPI8_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class K	303					attachment of GPI anchor to protein|C-terminal protein lipidation|protein thiol-disulfide exchange|proteolysis	GPI-anchor transamidase complex	cysteine-type endopeptidase activity|GPI-anchor transamidase activity|protein binding			endometrium(5)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	19						CACTTCCAAAGAAATCAGTTA	0.368000													11	31					0	0	0.000978159	0	0
TTN	7273	broad.mit.edu	37	2	179642503	179642503	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:179642503C>T	ENST00000589042.1	-	25	4632	c.4408G>A	c.(4408-4410)Gaa>Aaa	p.E1470K	TTN_ENST00000342175.6_Missense_Mutation_p.E1424K|TTN_ENST00000460472.2_Missense_Mutation_p.E1424K|TTN_ENST00000360870.5_Missense_Mutation_p.E1470K|TTN_ENST00000342992.6_Missense_Mutation_p.E1470K|TTN_ENST00000591111.1_Missense_Mutation_p.E1470K|TTN_ENST00000359218.5_Missense_Mutation_p.E1424K|RP11-88L24.4_ENST00000582038.2_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1470	Ig-like 6.						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)			GTTTGCCCTTCTAAACATTTG	0.413000													18	32					0	0	0.00074312	0	0
ZFHX4	79776	broad.mit.edu	37	8	77763658	77763658	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:77763658C>T	ENST00000521891.2	+	10	4949	c.4501C>T	c.(4501-4503)Cct>Tct	p.P1501S	ZFHX4_ENST00000518282.1_Missense_Mutation_p.P1475S|ZFHX4_ENST00000050961.6_Missense_Mutation_p.P1456S|ZFHX4_ENST00000455469.2_Missense_Mutation_p.P1456S	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1456						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GAAAGCAAGTCCTGTAGGAAG	0.473000										HNSCC(33;0.089)			16	28					0	0	0.000566183	0	0
RARRES2	5919	broad.mit.edu	37	7	150037263	150037263	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:150037263C>T	ENST00000466675.1	-	2	1238	c.205G>A	c.(205-207)Gaa>Aaa	p.E69K	RARRES2_ENST00000482669.1_Missense_Mutation_p.E69K|RARRES2_ENST00000223271.3_Missense_Mutation_p.E69K			Q99969	RARR2_HUMAN	retinoic acid receptor responder (tazarotene induced) 2	69					embryonic digestive tract development|in utero embryonic development|positive regulation of macrophage chemotaxis|retinoid metabolic process	extracellular matrix	receptor binding			endometrium(1)|large_intestine(1)|lung(1)|pancreas(1)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(82;0.011)			AGCTTAAATTCCAGCCTCACA	0.577000													38	236					0	0	0.00195071	0	0
LOC150776	150776	broad.mit.edu	37	2	132257781	132257781	+	RNA	SNP	T	T	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:132257781T>G	ENST00000438378.2	+	0	504					NR_026922.1																						TTTCAGGAGCTGCACACCATC	0.607000													4	4					0	0	0.00116845	0	0
KIF26B	55083	broad.mit.edu	37	1	245809553	245809553	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:245809553C>T	ENST00000366518.4	+	7	1190	c.1086C>T	c.(1084-1086)ctC>ctT	p.L362L	KIF26B_ENST00000407071.2_Silent_p.L743L			Q2KJY2	KI26B_HUMAN	kinesin family member 26B	743					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			TCCTGGCTCTCGTCAATGGCA	0.498000													5	19					0	0	0.00116845	0	0
YTHDC1	91746	broad.mit.edu	37	4	69188609	69188609	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:69188609G>A	ENST00000344157.4	-	11	1794	c.1459C>T	c.(1459-1461)Cag>Tag	p.Q487*	YTHDC1_ENST00000355665.3_Nonsense_Mutation_p.Q469*|YTHDC1_ENST00000579690.1_Nonsense_Mutation_p.Q487*	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	487	YTH.									NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						AGACAAAGCTGGGTTCCACAT	0.398000													6	41					0	0	0.00198382	0	0
CDC42EP1	11135	broad.mit.edu	37	22	37964152	37964152	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr22:37964152C>T	ENST00000249014.4	+	3	921	c.501C>T	c.(499-501)ccC>ccT	p.P167P		NM_152243.2	NP_689449.1	Q00587	BORG5_HUMAN	CDC42 effector protein (Rho GTPase binding) 1	167					positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|endomembrane system|Golgi apparatus|plasma membrane	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(4)|prostate(5)	15	Melanoma(58;0.0574)					CCCGCCTGCCCCGCTCGGAAA	0.637000													13	51					0	0	0.000566183	0	0
TEP1	7011	broad.mit.edu	37	14	20845648	20845648	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:20845648G>A	ENST00000262715.5	-	41	5919	c.5879C>T	c.(5878-5880)tCc>tTc	p.S1960F	TEP1_ENST00000556935.1_Missense_Mutation_p.S1852F|TEP1_ENST00000545983.1_Missense_Mutation_p.S298F	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1960					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		AGCCCCCTGGGAACCTAGAGA	0.582000													8	24					0	0	0.00307968	0	0
LRFN2	57497	broad.mit.edu	37	6	40359793	40359793	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:40359793C>T	ENST00000338305.6	-	3	2801	c.2259G>A	c.(2257-2259)acG>acA	p.T753T		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	753						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					GGCTGCGCTTCGTCCAGATGT	0.642000													5	47					0	0	0.00307968	0	0
LRRC30	339291	broad.mit.edu	37	18	7231711	7231711	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:7231711A>C	ENST00000383467.2	+	1	589	c.575A>C	c.(574-576)cAc>cCc	p.H192P		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	192										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						ATTTTCTTGCACGTGGGCTCG	0.542000													21	63					0	0	0.00188189	0	0
ADH6	130	broad.mit.edu	37	4	100131640	100131640	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:100131640G>A	ENST00000394897.1	-	4	364	c.282C>T	c.(280-282)ctC>ctT	p.L94L	ADH6_ENST00000407820.2_5'UTR|RP11-696N14.1_ENST00000500358.2_RNA|RP11-696N14.1_ENST00000506454.1_RNA|ADH6_ENST00000394899.2_Silent_p.L94L|RP11-696N14.1_ENST00000506160.1_RNA|ADH6_ENST00000237653.7_Silent_p.L94L			P28332	ADH6_HUMAN	alcohol dehydrogenase 6 (class V)	94					ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)|NADH(DB00157)	GTGGCAGAAAGAGTGTGATAA	0.308000													7	78					0	0	0.00198382	0	0
CCER1	196477	broad.mit.edu	37	12	91347786	91347786	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:91347786C>T	ENST00000358859.2	-	1	1167	c.734G>A	c.(733-735)gGa>gAa	p.G245E	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1			coiled-coil glutamate-rich protein 1																		TTCCTGCAGTCCCCAGGTTTC	0.627000													34	81					0	0	0.00375469	0	0
TENM4	26011	broad.mit.edu	37	11	78437243	78437243	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:78437243G>A	ENST00000278550.7	-	23	3893	c.3431C>T	c.(3430-3432)tCc>tTc	p.S1144F		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		ATCTGGGCAGGATTCATATTC	0.468000													24	121					0	0	0.00106085	0	0
QSOX1	5768	broad.mit.edu	37	1	180153078	180153078	+	Silent	SNP	C	C	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:180153078C>A	ENST00000367602.3	+	7	854	c.780C>A	c.(778-780)acC>acA	p.T260T	QSOX1_ENST00000367600.5_Silent_p.T260T			O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1	260					cell redox homeostasis|protein thiol-disulfide exchange	extracellular space|integral to Golgi membrane	flavin-linked sulfhydryl oxidase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						CCTTCTATACCGCTTACCTGC	0.522000													8	216					0.00307968	0.00887212	0.00307968	1	0
TNXB	7148	broad.mit.edu	37	6	32057124	32057124	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:32057124C>T	ENST00000375244.3	-	5	2592	c.2391G>A	c.(2389-2391)cgG>cgA	p.R797R	TNXB_ENST00000375247.2_Silent_p.R797R			P22105	TENX_HUMAN	tenascin XB	749	Fibronectin type-III 1.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						AGCTTGGAACCCGTGCTGTGA	0.632000													32	213					0	0	0.00428921	0	0
ARHGAP20	57569	broad.mit.edu	37	11	110457015	110457015	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:110457015G>A	ENST00000260283.4	-	13	1624	c.1340C>T	c.(1339-1341)tCa>tTa	p.S447L	ARHGAP20_ENST00000533353.1_Missense_Mutation_p.S421L|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.S421L|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.S411L|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.S424L|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.S411L|ARHGAP20_ENST00000529591.1_5'UTR	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	447	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		GAGATCTGATGAAAAAATACT	0.299000													34	113					0	0	0.00148497	0	0
SPTY2D1	144108	broad.mit.edu	37	11	18637278	18637278	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:18637278A>T	ENST00000336349.5	-	3	778	c.543T>A	c.(541-543)ttT>ttA	p.F181L		NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)	181										breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						CCACTGGTTCAAACTGCTTTT	0.458000													23	85					0	0	0.00278032	0	0
ZNF408	79797	broad.mit.edu	37	11	46726799	46726799	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:46726799C>T	ENST00000311764.2	+	5	1779	c.1549C>T	c.(1549-1551)Ctc>Ttc	p.L517F		NM_001184751.1|NM_024741.2	NP_001171680.1|NP_079017.1	Q9H9D4	ZN408_HUMAN	zinc finger protein 408	517					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GCATTTGCGGCTCCACACCGG	0.647000													10	33					0	0	0.000978159	0	0
RBL1	5933	broad.mit.edu	37	20	35696431	35696431	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:35696431G>A	ENST00000373664.3	-	3	515	c.449C>T	c.(448-450)cCa>cTa	p.P150L	RBL1_ENST00000344359.3_Missense_Mutation_p.P150L	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1 (p107)	150					cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				TTCTTCATATGGATTTTGAAA	0.323000													7	161					0	0	0.000274275	0	0
SLC30A5	64924	broad.mit.edu	37	5	68412345	68412345	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:68412345C>T	ENST00000396591.3	+	10	1807	c.1197C>T	c.(1195-1197)atC>atT	p.I399I	CTC-498J12.3_ENST00000504129.1_RNA	NM_022902.4	NP_075053.2	Q8TAD4	ZNT5_HUMAN	solute carrier family 30 (zinc transporter), member 5	399					cellular zinc ion homeostasis|cobalt ion transport|regulation of proton transport|response to zinc ion	apical plasma membrane|Golgi apparatus|integral to plasma membrane|membrane fraction|secretory granule membrane	zinc ion binding|zinc ion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		CTCAATCGATCCCTAGGTTTA	0.373000													36	44					0	0	0.00428921	0	0
PLG	5340	broad.mit.edu	37	6	161139393	161139393	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:161139393G>A	ENST00000308192.9	+	8	918	c.855G>A	c.(853-855)ggG>ggA	p.G285G		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	285	Kringle 3.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	ACTATCGCGGGAATGTGGCTG	0.498000													11	24					0	0	0.000978159	0	0
ERCC1	2067	broad.mit.edu	37	19	45916912	45916912	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:45916912G>A	ENST00000013807.5	-	8	1057	c.866C>T	c.(865-867)cCa>cTa	p.P289L	ERCC1_ENST00000423698.2_Intron|ERCC1_ENST00000300853.3_Intron|ERCC1_ENST00000591636.1_Intron|ERCC1_ENST00000588738.1_Intron|ERCC1_ENST00000589165.1_Intron|ERCC1_ENST00000340192.7_Intron	NM_202001.2	NP_973730.1	P07992	ERCC1_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)	0					mitotic recombination|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|response to oxidative stress|transcription-coupled nucleotide-excision repair	cytoplasm|nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair complex	damaged DNA binding|endonuclease activity|protein C-terminus binding|protein domain specific binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|skin(1)	15		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0247)		CCAACTCCTTGGGTTCTTTCC	0.512000								Nucleotide excision repair (NER)					19	68					0	0	0.00188189	0	0
SMARCAL1	50485	broad.mit.edu	37	2	217281011	217281011	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:217281011G>A	ENST00000357276.4	+	4	1173	c.843G>A	c.(841-843)atG>atA	p.M281I	SMARCAL1_ENST00000358207.5_Missense_Mutation_p.M281I	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	281	HARP 1.				chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		ACTTCAGCATGAATGACTATA	0.438000									Schimke Immuno-Osseous Dysplasia				18	79					0	0	0.00152264	0	0
STAB2	55576	broad.mit.edu	37	12	104126805	104126805	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:104126805A>C	ENST00000388887.2	+	51	5509	c.5305A>C	c.(5305-5307)Atc>Ctc	p.I1769L		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	1769	FAS1 6.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GCTGAGTGTCATCACCGATCC	0.562000													8	21					0	0	0.000274275	0	0
SENP2	59343	broad.mit.edu	37	3	185341841	185341841	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:185341841G>A	ENST00000296257.5	+	15	1822	c.1582G>A	c.(1582-1584)Gag>Aag	p.E528K	SENP2_ENST00000545472.1_Missense_Mutation_p.E518K|SENP2_ENST00000427465.2_Missense_Mutation_p.E352K	NM_021627.2	NP_067640.2	Q9HC62	SENP2_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 2	528	Protease.				mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport|Wnt receptor signaling pathway	cytoplasm|nuclear membrane|nuclear pore	protein binding|SUMO-specific protease activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			GAATCTTTTAGAGTGGACCCA	0.348000													89	353					0	0	0.00361006	0	0
C3P1	388503	broad.mit.edu	37	19	10169621	10169621	+	RNA	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:10169621G>A	ENST00000495140.1	+	0	2021																				endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1)	13						CGACTGCCTGGACAGCTTTGC	0.532000													11	47					0	0	0.00136819	0	0
MAMDC2	256691	broad.mit.edu	37	9	72724664	72724664	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:72724664G>A	ENST00000377182.4	+	4	1066	c.449G>A	c.(448-450)gGa>gAa	p.G150E	MAMDC2-AS1_ENST00000591368.1_RNA|MAMDC2-AS1_ENST00000414515.3_RNA	NM_153267.4	NP_694999.3	Q7Z304	MAMC2_HUMAN	MAM domain containing 2	150	MAM 1.					endoplasmic reticulum|membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						CTAGGACAGGGAAACACAGCC	0.383000													16	40					0	0	0.00121646	0	0
POLR3B	55703	broad.mit.edu	37	12	106890587	106890587	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:106890587C>T	ENST00000228347.4	+	25	3097	c.2875C>T	c.(2875-2877)Cac>Tac	p.H959Y	POLR3B_ENST00000539066.1_Missense_Mutation_p.H901Y|RP11-144F15.1_ENST00000551505.1_Intron	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	959					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						CGGCAGATTCCACTACGGCAC	0.537000													7	33					0	0	0.000274275	0	0
SPATA16	83893	broad.mit.edu	37	3	172835519	172835519	+	Translation_Start_Site	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:172835519C>T	ENST00000351008.3	-	2	186	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	1					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)			TTCCTGCATCCATCGATCCTG	0.393000													22	22					0	0	0.00278032	0	0
DNAH9	1770	broad.mit.edu	37	17	11572799	11572799	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:11572799C>T	ENST00000262442.3	+	17	3109	c.3041C>T	c.(3040-3042)tCg>tTg	p.S1014L	DNAH9_ENST00000454412.2_Missense_Mutation_p.S1014L	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1014	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AGCCAGTATTCGTACCTCTAT	0.527000													33	19					0	0	0.00375469	0	0
FAM63A	55793	broad.mit.edu	37	1	150971860	150971860	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:150971860G>A	ENST00000361936.5	-	8	1920	c.966C>T	c.(964-966)acC>acT	p.T322T	FAM63A_ENST00000493834.2_Silent_p.T227T|FAM63A_ENST00000312210.5_Silent_p.T180T|FAM63A_ENST00000361738.6_Silent_p.T370T	NM_018379.4	NP_060849.2	Q8N5J2	FA63A_HUMAN	family with sequence similarity 63, member A	322							protein binding			breast(1)|endometrium(3)|large_intestine(4)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GCTTAGTCATGGTGCTAAAGT	0.547000													29	157					0	0	0.00375469	0	0
UBR2	23304	broad.mit.edu	37	6	42627584	42627584	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:42627584C>T	ENST00000372901.1	+	30	3691	c.3433C>T	c.(3433-3435)Caa>Taa	p.Q1145*	UBR2_ENST00000372883.3_3'UTR|UBR2_ENST00000372899.1_Nonsense_Mutation_p.Q1145*			Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	1145					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			TAAATTTATTCAAGATCCAGG	0.358000													6	38					0	0	0.00198382	0	0
DMRTB1	63948	broad.mit.edu	37	1	53932313	53932313	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:53932313C>T	ENST00000371445.3	+	4	1062	c.1007C>T	c.(1006-1008)tCg>tTg	p.S336L		NM_033067.1	NP_149056.1	Q96MA1	DMRTB_HUMAN	DMRT-like family B with proline-rich C-terminal, 1	336					sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(3)|lung(5)|ovary(1)|skin(1)	10						AGCCAGCCATCGTCTCAGGAG	0.557000													25	101					0	0	0.001512	0	0
LYZ	4069	broad.mit.edu	37	12	69743908	69743908	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:69743908G>A	ENST00000261267.2	+	2	225	c.157G>A	c.(157-159)Gag>Aag	p.E53K	LYZ_ENST00000549690.1_Missense_Mutation_p.E53K|LYZ_ENST00000548839.1_Missense_Mutation_p.E53K	NM_000239.2	NP_000230.1	P61626	LYSC_HUMAN	lysozyme	53					cell wall macromolecule catabolic process|cytolysis|defense response to bacterium|inflammatory response	extracellular space	lysozyme activity|protein binding			endometrium(2)|lung(1)|upper_aerodigestive_tract(1)	4	all_epithelial(5;2.98e-35)|Lung NSC(4;9.93e-33)|all_lung(4;5.66e-31)|Breast(13;2.56e-06)|Esophageal squamous(21;0.187)		Epithelial(6;8.26e-19)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;9.68e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00503)|OV - Ovarian serous cystadenocarcinoma(12;0.00691)|LUSC - Lung squamous cell carcinoma(43;0.24)|Kidney(9;0.241)			GGCCAAATGGGAGAGTGGTTA	0.383000													13	51					0	0	0.00316338	0	0
TCEB1	6921	broad.mit.edu	37	8	74859020	74859020	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:74859020A>T	ENST00000518127.1	-	4	276	c.184T>A	c.(184-186)Ttt>Att	p.F62I	TCEB1_ENST00000602840.1_Intron|TCEB1_ENST00000519487.1_Missense_Mutation_p.F62I|TCEB1_ENST00000523815.1_Missense_Mutation_p.F62I|TCEB1_ENST00000520210.1_Missense_Mutation_p.F46I|TCEB1_ENST00000284811.8_Missense_Mutation_p.F62I|TCEB1_ENST00000520242.1_Missense_Mutation_p.F62I|TCEB1_ENST00000522337.1_Missense_Mutation_p.F62I	NM_001204857.1|NM_001204858.1|NM_001204859.1|NM_001204860.1|NM_001204862.1	NP_001191786.1|NP_001191787.1|NP_001191788.1|NP_001191789.1|NP_001191791.1	Q15369	ELOC_HUMAN	transcription elongation factor B (SIII), polypeptide 1 (15kDa, elongin C)	62					interspecies interaction between organisms|positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|ubiquitin-dependent protein catabolic process|viral reproduction	cytosol|nucleoplasm	protein binding			endometrium(2)|kidney(3)|lung(1)|prostate(1)	7	Breast(64;0.0311)		Epithelial(68;0.0136)|all cancers(69;0.0431)|BRCA - Breast invasive adenocarcinoma(89;0.0499)			ATCTCTCTAAAATTGACCTCA	0.378000													15	94					0	0	0.00400662	0	0
TRAFD1	10906	broad.mit.edu	37	12	112587634	112587634	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:112587634A>C	ENST00000257604.5	+	9	1855	c.1238A>C	c.(1237-1239)gAg>gCg	p.E413A	TRAFD1_ENST00000412615.2_Missense_Mutation_p.E413A	NM_001143906.1	NP_001137378.1	O14545	TRAD1_HUMAN	TRAF-type zinc finger domain containing 1	413					negative regulation of innate immune response	intracellular	protein binding|zinc ion binding			kidney(5)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	17						CAGCCTCAAGAGACCTCACCA	0.552000													6	26					0	0	0.00198382	0	0
TET3	200424	broad.mit.edu	37	2	74274685	74274685	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:74274685C>T	ENST00000409262.3	+	1	1236	c.1236C>T	c.(1234-1236)tcC>tcT	p.S412S		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	412							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						ACGACACCTCCTTCCCTGCTC	0.622000													6	12					0	0	0.00307968	0	0
CYR61	3491	broad.mit.edu	37	1	86048110	86048110	+	Missense_Mutation	SNP	G	G	A	rs149037713		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:86048110G>A	ENST00000451137.2	+	4	870	c.646G>A	c.(646-648)Gag>Aag	p.E216K		NM_001554.4	NP_001545.2	O00622	CYR61_HUMAN	cysteine-rich, angiogenic inducer, 61	216					cell proliferation|chemotaxis|positive regulation of BMP signaling pathway|positive regulation of cell migration|positive regulation of osteoblast differentiation|positive regulation of osteoblast proliferation|positive regulation of protein kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell growth|regulation of ERK1 and ERK2 cascade|wound healing, spreading of cells	extracellular region	heparin binding|insulin-like growth factor binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|prostate(1)	5				all cancers(265;0.0216)|Epithelial(280;0.0441)		TTTTGGAATGGAGCCTCGCAT	0.433000											OREG0013583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	37					0	0	0.000978159	0	0
OR6C76	390326	broad.mit.edu	37	12	55820171	55820171	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:55820171C>T	ENST00000328314.3	+	1	134	c.134C>T	c.(133-135)tCc>tTc	p.S45F		NM_001005183.1	NP_001005183.1	A6NM76	O6C76_HUMAN	olfactory receptor, family 6, subfamily C, member 76	45					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						ACTATCATCTCCCTTACCCTG	0.418000													6	33					0	0	0.00198382	0	0
JSRP1	126306	broad.mit.edu	37	19	2255218	2255218	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:2255218C>T	ENST00000300961.5	-	2	160	c.96G>A	c.(94-96)gaG>gaA	p.E32E	JSRP1_ENST00000586471.1_Silent_p.E32E	NM_144616.3	NP_653217.1	Q96MG2	JSPR1_HUMAN	junctional sarcoplasmic reticulum protein 1	32	Mediates interaction with CACNA1S (By similarity).					sarcoplasmic reticulum membrane				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|pancreas(1)|urinary_tract(1)	6				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)		AAGCCCTGTCCTCCTGGGTCT	0.642000													11	28					0	0	0.000978159	0	0
MARCH7	64844	broad.mit.edu	37	2	160604951	160604951	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:160604951C>A	ENST00000259050.3	+	5	1272	c.1150C>A	c.(1150-1152)Cca>Aca	p.P384T	MARCH7_ENST00000539065.1_Missense_Mutation_p.P328T|MARCH7_ENST00000409591.1_Missense_Mutation_p.P346T|MARCH7_ENST00000409175.1_Missense_Mutation_p.P384T	NM_022826.2	NP_073737.1	Q9H992	MARH7_HUMAN	membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase	384	Ser-rich.						ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						AAATACAGGACCATGGTTATC	0.413000													12	94					0.000151284	0.00043841	0.00185496	1	0
ANKHD1	54882	broad.mit.edu	37	5	139908859	139908859	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:139908859C>T	ENST00000297183.6	+	29	6452	c.6328C>T	c.(6328-6330)Ccc>Tcc	p.P2110S	ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.P2110S|ANKHD1_ENST00000544120.1_Missense_Mutation_p.P493S|ANKHD1_ENST00000360839.2_Missense_Mutation_p.P2110S	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTGACATCACCCAGAATGGT	0.463000													24	148					0	0	0.00395357	0	0
USP29	57663	broad.mit.edu	37	19	57640373	57640373	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:57640373C>T	ENST00000254181.4	+	4	784	c.330C>T	c.(328-330)ccC>ccT	p.P110P	USP29_ENST00000598197.1_Silent_p.P110P	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	110					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CTCAGCAACCCATGAAATCTG	0.348000													18	24					0	0	0.00074312	0	0
STARD6	147323	broad.mit.edu	37	18	51858172	51858172	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:51858172G>A	ENST00000581310.1	-	7	698	c.325C>T	c.(325-327)Cga>Tga	p.R109*	STARD6_ENST00000580990.2_Missense_Mutation_p.S16L|STARD6_ENST00000307844.3_Nonsense_Mutation_p.R109*			P59095	STAR6_HUMAN	StAR-related lipid transfer (START) domain containing 6	109	START.				lipid transport		lipid binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)	8				Colorectal(16;0.021)|READ - Rectum adenocarcinoma(59;0.188)		ATAAAGTCTCGAGGGGAAATG	0.378000													19	66					0	0	0.00121646	0	0
FUNDC2P2	388965	broad.mit.edu	37	2	84518146	84518146	+	RNA	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:84518146G>A	ENST00000331369.5	+	0	340																											AGGTTGGAAAGTTGGCTGCAA	0.478000													7	55					0	0	0.000442599	0	0
IL7R	3575	broad.mit.edu	37	5	35861078	35861078	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:35861078G>A	ENST00000303115.3	+	2	336	c.207G>A	c.(205-207)ctG>ctA	p.L69L	IL7R_ENST00000506850.1_Silent_p.L69L|IL7R_ENST00000511031.1_3'UTR|IL7R_ENST00000343305.4_Silent_p.L69L|IL7R_ENST00000511982.1_Silent_p.L69L	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	69					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			TCACCAATCTGGAATTTGAAA	0.408000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency						18	50					0	0	0.00121646	0	0
TTN	7273	broad.mit.edu	37	2	179610788	179610788	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:179610788C>T	ENST00000360870.5	-	46	16561	c.16339G>A	c.(16339-16341)Gat>Aat	p.D5447N	TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000359218.5_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	8954	Ig-like 35.						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)			GTTGCACTATCAGAAAGACAG	0.398000													12	29					0	0	0.00185496	0	0
HBB	3043	broad.mit.edu	37	11	5247954	5247954	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:5247954C>T	ENST00000335295.3	-	2	343	c.168G>A	c.(166-168)atG>atA	p.M56I		NM_000518.4	NP_000509.1	P68871	HBB_HUMAN	hemoglobin, beta	56			M -> K (in Matera; unstable).		blood coagulation|hydrogen peroxide catabolic process|nitric oxide transport|positive regulation of cell death|positive regulation of nitric oxide biosynthetic process|protein heterooligomerization|regulation of blood pressure|regulation of blood vessel size	haptoglobin-hemoglobin complex|hemoglobin complex	heme binding|hemoglobin binding|oxygen binding|oxygen transporter activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)	15		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	Iron Dextran(DB00893)	TAGGGTTGCCCATAACAGCAT	0.532000									Sickle Cell Trait				8	27					0	0	0.000673444	0	0
ADAM18	8749	broad.mit.edu	37	8	39468047	39468047	+	Splice_Site	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:39468047G>A	ENST00000265707.5	+	6	389		c.e6-1		ADAM18_ENST00000541111.1_Intron|ADAM18_ENST00000520772.1_Splice_Site|ADAM18_ENST00000379866.1_Splice_Site	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18						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)			TAAATTTTCAGGGGATTTCTC	0.274000													10	48					0	0	0.000442599	0	0
DHX40	79665	broad.mit.edu	37	17	57676818	57676818	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:57676818C>T	ENST00000451169.2	+	17	1995	c.1636C>T	c.(1636-1638)Cga>Tga	p.R546*	DHX40_ENST00000251241.4_Nonsense_Mutation_p.R594*|DHX40_ENST00000425628.3_Nonsense_Mutation_p.R517*			Q8IX18	DHX40_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 40	594							ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(7)|large_intestine(6)|lung(6)|prostate(1)	20	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					AGCTCAACTTCGAGAACTAAT	0.378000													13	162					0	0	0.00229938	0	0
MROH2B	133558	broad.mit.edu	37	5	41055945	41055945	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:41055945G>A	ENST00000399564.4	-	10	1382	c.932C>T	c.(931-933)cCt>cTt	p.P311L	MROH2B_ENST00000506092.2_Intron	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		CAGCTCTCCAGGATTGGAATG	0.398000													30	41					0	0	0.001512	0	0
FLRT2	23768	broad.mit.edu	37	14	86089651	86089651	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:86089651C>T	ENST00000330753.4	+	2	2560	c.1793C>T	c.(1792-1794)tCc>tTc	p.S598F	FLRT2_ENST00000554746.1_Missense_Mutation_p.S598F	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	598					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		AAGGACAACTCCATCCTGGAG	0.478000													15	42					0	0	0.00400662	0	0
POLD3	10714	broad.mit.edu	37	11	74323981	74323981	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:74323981C>T	ENST00000263681.2	+	5	447	c.318C>T	c.(316-318)gcC>gcT	p.A106A	POLD3_ENST00000527458.1_Silent_p.A67A|POLD3_ENST00000532497.1_5'UTR	NM_006591.2	NP_006582.1	Q15054	DPOD3_HUMAN	polymerase (DNA-directed), delta 3, accessory subunit	106					base-excision repair|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|mismatch repair|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm	DNA-directed DNA polymerase activity|protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|stomach(1)	18	Breast(11;3.21e-06)					TCCAGAAAGCCATGCTAAAGG	0.448000													28	35					0	0	0.00127121	0	0
DNAH3	55567	broad.mit.edu	37	16	20975406	20975406	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:20975406T>C	ENST00000261383.3	-	53	9799	c.9800A>G	c.(9799-9801)aAa>aGa	p.K3267R	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3267	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)		AGATAGCACTTTGGAGGAGGA	0.468000													31	109					0	0	0.0024448	0	0
ZNF195	7748	broad.mit.edu	37	11	3380778	3380778	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:3380778G>A	ENST00000354599.6	-	4	1348	c.1244C>T	c.(1243-1245)aCt>aTt	p.T415I	ZNF195_ENST00000399602.4_Missense_Mutation_p.T487I|ZNF195_ENST00000343338.7_Missense_Mutation_p.T419I|ZNF195_ENST00000526601.1_Missense_Mutation_p.T468I|ZNF195_ENST00000429541.2_Missense_Mutation_p.T419I|ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000005082.9_Missense_Mutation_p.T464I	NM_001242843.1|NM_001256825.1|NM_007152.4	NP_001229772.1|NP_001243754.1|NP_009083.2	O14628	ZN195_HUMAN	zinc finger protein 195	487					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		TTCAGAATGAGTTCTCTTATG	0.428000													47	44					0	0	0.00361006	0	0
BRINP2	57795	broad.mit.edu	37	1	177250484	177250484	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:177250484G>A	ENST00000361539.4	+	8	2484	c.2172G>A	c.(2170-2172)agG>agA	p.R724R	FAM5B_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		724						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						TTGAGCTCAGGGACCGGGTGA	0.537000													14	64					0	0	0.00316338	0	0
OSM	5008	broad.mit.edu	37	22	30659991	30659991	+	Missense_Mutation	SNP	C	C	T	rs150499755		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr22:30659991C>T	ENST00000215781.2	-	3	680	c.640G>A	c.(640-642)Gag>Aag	p.E214K	OSM_ENST00000403389.1_Missense_Mutation_p.E193K	NM_020530.4	NP_065391.1	P13725	ONCM_HUMAN	oncostatin M	214					cell proliferation|immune response|negative regulation of cell proliferation|negative regulation of hormone secretion|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of MAPKKK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of growth	extracellular space|oncostatin-M receptor complex	cytokine activity|growth factor activity|oncostatin-M receptor binding			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|skin(3)	11			Epithelial(10;0.206)			TTCGGGCTCTCCCCCCACTTG	0.637000													7	21					0	0	0.00307968	0	0
DCAF4	26094	broad.mit.edu	37	14	73409798	73409798	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:73409798C>T	ENST00000553457.1	+	5	518	c.228C>T	c.(226-228)ctC>ctT	p.L76L	DCAF4_ENST00000555042.1_Silent_p.L176L|DCAF4_ENST00000509153.1_Intron|DCAF4_ENST00000394234.2_Silent_p.L76L|DCAF4_ENST00000358377.2_Silent_p.L176L|DCAF4_ENST00000353777.3_Intron			Q8WV16	DCAF4_HUMAN	DDB1 and CUL4 associated factor 4	176						CUL4 RING ubiquitin ligase complex				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|skin(1)	22						GATTTAACCTCATACTGGTGA	0.572000													8	19					0	0	0.000274275	0	0
HDAC9	9734	broad.mit.edu	37	7	18624924	18624924	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:18624924C>T	ENST00000406451.3	+	3	193	c.43C>T	c.(43-45)Cct>Tct	p.P15S	HDAC9_ENST00000406072.1_Missense_Mutation_p.P43S|HDAC9_ENST00000405010.3_Missense_Mutation_p.P15S|HDAC9_ENST00000524023.1_5'UTR|HDAC9_ENST00000428307.2_Missense_Mutation_p.P15S|HDAC9_ENST00000456174.2_5'UTR|HDAC9_ENST00000417496.2_Missense_Mutation_p.P57S|HDAC9_ENST00000441542.2_Missense_Mutation_p.P15S|HDAC9_ENST00000401921.1_Missense_Mutation_p.P15S|HDAC9_ENST00000432645.2_Missense_Mutation_p.P15S|HDAC9_ENST00000476135.1_3'UTR	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	15					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	GTCAGAAGTTCCTGTGGGCCT	0.478000													87	69					0	0	0.00361006	0	0
OR5B3	441608	broad.mit.edu	37	11	58170716	58170716	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:58170716G>A	ENST00000309403.2	-	1	166	c.167C>T	c.(166-168)cCc>cTc	p.P56L		NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B, member 3	56					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AAAGTACATGGGATTGTGGAG	0.418000													6	23					0	0	0.00198382	0	0
SMG1	23049	broad.mit.edu	37	16	18851080	18851080	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:18851080G>A	ENST00000446231.2	-	42	7297	c.6885C>T	c.(6883-6885)ctC>ctT	p.L2295L	SMG1_ENST00000389467.3_Silent_p.L2295L			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	2295	PI3K/PI4K.				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						CTTTGGCAAGGAGATTCGGGG	0.468000													15	58					0	0	0.000566183	0	0
ZC3H12A	80149	broad.mit.edu	37	1	37941452	37941452	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:37941452C>T	ENST00000373087.6	+	2	471	c.355C>T	c.(355-357)Ccc>Tcc	p.P119S		NM_025079.2	NP_079355.2	Q5D1E8	ZC12A_HUMAN	zinc finger CCCH-type containing 12A	119					angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CCCTAAGGCTCCCAACCTGGA	0.642000													6	9					0	0	0.00198382	0	0
RBM10	8241	broad.mit.edu	37	X	47035920	47035920	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:47035920C>T	ENST00000377604.3	+	7	1340	c.598C>T	c.(598-600)Cag>Tag	p.Q200*	RBM10_ENST00000345781.6_Nonsense_Mutation_p.Q123*|RBM10_ENST00000329236.7_Nonsense_Mutation_p.Q123*|RBM10_ENST00000468791.1_3'UTR	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	200	RRM 1.				mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						CATCCTGGGCCAGAAGGTGTC	0.572000													9	19					0	0	0.000673444	0	0
OR4M2	390538	broad.mit.edu	37	15	22368766	22368766	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:22368766C>T	ENST00000332663.2	+	1	289	c.191C>T	c.(190-192)gCt>gTt	p.A64V	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	64					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TTCCTGTTGGCTAATCTGGCC	0.403000													11	151					0	0	0.000978159	0	0
CFAP54	144535	broad.mit.edu	37	12	97078949	97078949	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:97078949G>A	ENST00000524981.3	+	9	1300	c.1300G>A	c.(1300-1302)Gag>Aag	p.E434K				Q6ZTY8	CL063_HUMAN		408										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						CTACAGTGAGGAGTTTCTGTC	0.493000													8	23					0	0	0.000274275	0	0
WNT2	7472	broad.mit.edu	37	7	116955182	116955182	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:116955182C>T	ENST00000265441.3	-	3	830	c.531G>A	c.(529-531)agG>agA	p.R177R	AC002465.2_ENST00000436097.1_RNA	NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2	177					atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		cctttcctttcctttcctttG	0.483000													16	82					0	0	0.00316338	0	0
ZSCAN4	201516	broad.mit.edu	37	19	58189533	58189533	+	Splice_Site	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:58189533G>A	ENST00000318203.5	+	5	1259		c.e5-1			NM_152677.2	NP_689890.1	Q8NAM6	ZSCA4_HUMAN	zinc finger and SCAN domain containing 4						telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TATTTTCACAGGATATGAAGA	0.373000													5	46					0	0	0.00116845	0	0
TACC2	10579	broad.mit.edu	37	10	123985898	123985898	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:123985898G>A	ENST00000369005.1	+	13	7966	c.7626G>A	c.(7624-7626)ccG>ccA	p.P2542P	TACC2_ENST00000360561.3_Silent_p.P620P|TACC2_ENST00000334433.3_Silent_p.P2542P|TACC2_ENST00000513429.1_Silent_p.P688P|TACC2_ENST00000358010.1_Silent_p.P688P|TACC2_ENST00000368999.1_Silent_p.P632P|TACC2_ENST00000369004.3_Silent_p.P632P|TACC2_ENST00000369000.1_Silent_p.P242P|TACC2_ENST00000515273.1_Silent_p.P2546P|TACC2_ENST00000260733.3_Silent_p.P620P|TACC2_ENST00000369001.1_Silent_p.P246P|TACC2_ENST00000453444.2_Silent_p.P2546P|TACC2_ENST00000515603.1_Silent_p.P2497P	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2542						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				ACGATGCCCCGAAGAAGCAGG	0.537000													4	11					0	0	0.000602214	0	0
ITGB6	3694	broad.mit.edu	37	2	160982960	160982960	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:160982960T>G	ENST00000283249.2	-	11	2050	c.1813A>C	c.(1813-1815)Aca>Cca	p.T605P	ITGB6_ENST00000409872.1_Missense_Mutation_p.T605P|ITGB6_ENST00000428609.2_Missense_Mutation_p.T563P|ITGB6_ENST00000409967.2_Intron			P18564	ITB6_HUMAN	integrin, beta 6	605	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						CCAGGGTTTGTGCAAACACAC	0.542000													9	24					0	0	0.000978159	0	0
PTPRN2	5799	broad.mit.edu	37	7	157387990	157387990	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:157387990C>T	ENST00000389413.3	-	16	2452	c.2349G>A	c.(2347-2349)agG>agA	p.R783R	PTPRN2_ENST00000409483.1_Silent_p.R774R|PTPRN2_ENST00000389418.4_Silent_p.R812R|PTPRN2_ENST00000389416.4_Silent_p.R795R|PTPRN2_ENST00000404321.2_Silent_p.R835R	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	812	Tyrosine-protein phosphatase.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.R812R(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		ACGCGGGGTTCCTCGGGTCGT	0.532000													17	73					0	0	0.00152264	0	0
DSPP	1834	broad.mit.edu	37	4	88533679	88533679	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:88533679G>A	ENST00000399271.1	+	4	461	c.341G>A	c.(340-342)gGa>gAa	p.G114E	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000282478.7_Missense_Mutation_p.G114E	NM_014208.3	NP_055023.2	Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	114					biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent	p.G114E(1)		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)		GGGGACACAGGAAAAGCAGAA	0.433000													6	15					0	0	0.00198382	0	0
ESYT3	83850	broad.mit.edu	37	3	138193065	138193065	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:138193065A>G	ENST00000389567.4	+	20	2525	c.2339A>G	c.(2338-2340)aAc>aGc	p.N780S	ESYT3_ENST00000460133.1_Intron	NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	780	C2 3.					integral to membrane|plasma membrane				breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						CAAATCAGAAACCTAACACCA	0.433000													37	151					0	0	0.00375469	0	0
PITPNM3	83394	broad.mit.edu	37	17	6387017	6387017	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:6387017C>T	ENST00000262483.8	-	6	494	c.407G>A	c.(406-408)gGg>gAg	p.G136E	ACKR6_ENST00000421306.3_Missense_Mutation_p.G100E	NM_031220.3	NP_112497.2																					GATGTTTCCCCCATGCAGGAC	0.632000													12	15					0	0	0.00400662	0	0
MUC16	94025	broad.mit.edu	37	19	9049298	9049298	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:9049298G>A	ENST00000397910.4	-	5	32536	c.32333C>T	c.(32332-32334)tCg>tTg	p.S10778L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10780	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.S10778L(1)|p.S6411L(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGAATGGCCGAACTTGTCTG	0.473000													8	46					0	0	0.000442599	0	0
PDILT	204474	broad.mit.edu	37	16	20380952	20380952	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:20380952G>A	ENST00000302451.4	-	8	1226	c.978C>T	c.(976-978)ttC>ttT	p.F326F		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	326					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						CTGTGACCCGGAAGTACTTGA	0.468000													14	61					0	0	0.00400662	0	0
ALDH1A2	8854	broad.mit.edu	37	15	58252978	58252978	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:58252978C>T	ENST00000249750.4	-	12	2241	c.1474G>A	c.(1474-1476)Ggg>Agg	p.G492R	ALDH1A2_ENST00000347587.3_Missense_Mutation_p.G454R|ALDH1A2_ENST00000558231.1_Missense_Mutation_p.G463R|ALDH1A2_ENST00000559517.1_Missense_Mutation_p.G396R|ALDH1A2_ENST00000537372.1_Missense_Mutation_p.G471R	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1 family, member A2	492					negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	ATTTCTCTCCCATTTCCAGAC	0.383000													6	33					0	0	0.00198382	0	0
LIPG	9388	broad.mit.edu	37	18	47108779	47108779	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:47108779G>A	ENST00000261292.4	+	7	1362	c.1084G>A	c.(1084-1086)Gga>Aga	p.G362R	LIPG_ENST00000427224.2_Missense_Mutation_p.G288R	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN	lipase, endothelial	362	PLAT.				cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						CAAGAACATGGGAGAAATTGA	0.443000													11	38					0	0	0.000978159	0	0
LRRN3	54674	broad.mit.edu	37	7	110763663	110763663	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:110763663G>A	ENST00000451085.1	+	4	1881	c.835G>A	c.(835-837)Gat>Aat	p.D279N	IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000415362.1_Intron|LRRN3_ENST00000422987.3_Missense_Mutation_p.D279N|IMMP2L_ENST00000452895.1_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.D279N|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000405709.2_Intron	NM_001099660.1	NP_001093130.1	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	279						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		ACGAAGGGGTGATTTTAGCAA	0.338000													9	57					0	0	0.000274275	0	0
PLXNC1	10154	broad.mit.edu	37	12	94575305	94575305	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:94575305C>T	ENST00000258526.4	+	3	1536	c.1287C>T	c.(1285-1287)ctC>ctT	p.L429L	RP11-74K11.2_ENST00000550759.1_RNA	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	429	Sema.				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TCTACAAACTCGTTCCTGATC	0.313000													31	131					0	0	0.00375469	0	0
MMP3	4314	broad.mit.edu	37	11	102712940	102712940	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:102712940C>T	ENST00000299855.5	-	4	826	c.570G>A	c.(568-570)ggG>ggA	p.G190G		NM_002422.3	NP_002413.1	P08254	MMP3_HUMAN	matrix metallopeptidase 3 (stromelysin 1, progelatinase)	190					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)|Simvastatin(DB00641)	CTCCATTAATCCCTGGCCCAG	0.383000													8	31					0	0	0.000274275	0	0
KIR2DL4	3805	broad.mit.edu	37	19	55324663	55324663	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:55324663C>T	ENST00000396284.2	+	6	784	c.784C>T	c.(784-786)Cgc>Tgc	p.R262C	KIR2DL4_ENST00000345540.5_Intron|KIR2DL4_ENST00000359085.4_Missense_Mutation_p.R264C|KIR2DL4_ENST00000396293.1_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR2DL4_ENST00000346587.4_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR2DL4_ENST00000463062.1_3'UTR|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000357494.4_Intron					killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4											NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|prostate(3)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		TCTCCTTCATCGCTGGTGCTC	0.532000													10	29					0	0	0.000673444	0	0
SIGLEC9	27180	broad.mit.edu	37	19	51633162	51633162	+	Silent	SNP	A	A	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:51633162A>G	ENST00000250360.3	+	7	1285	c.1218A>G	c.(1216-1218)gaA>gaG	p.E406E	SIGLEC9_ENST00000440804.3_Intron	NM_014441.2	NP_055256.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	406					cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		CCCTGACTGAACCTTGGGCAG	0.602000													5	31					0	0	0.00198382	0	0
TRAT1	50852	broad.mit.edu	37	3	108565969	108565969	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:108565969G>A	ENST00000295756.6	+	4	437	c.207G>A	c.(205-207)atG>atA	p.M69I	TRAT1_ENST00000426646.1_Missense_Mutation_p.M32I|TRAT1_ENST00000493604.1_3'UTR	NM_016388.2	NP_057472.2	Q6PIZ9	TRAT1_HUMAN	T cell receptor associated transmembrane adaptor 1	69					cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						TAGATGATATGATTTCAGGTA	0.274000													15	69					0	0	0.00400662	0	0
TOP3A	7156	broad.mit.edu	37	17	18186042	18186042	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:18186042T>C	ENST00000321105.5	-	16	2205	c.1991A>G	c.(1990-1992)gAc>gGc	p.D664G	TOP3A_ENST00000542570.1_Missense_Mutation_p.D569G|TOP3A_ENST00000540524.1_Missense_Mutation_p.D194G	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	664					DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						AAGGACCATGTCCTTGTTGCA	0.577000													22	37					0	0	0.00332997	0	0
PTPRT	11122	broad.mit.edu	37	20	40944429	40944429	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:40944429C>T	ENST00000373198.3	-	12	2308	c.2073G>A	c.(2071-2073)tgG>tgA	p.W691*	PTPRT_ENST00000356100.2_Nonsense_Mutation_p.W691*|PTPRT_ENST00000373184.1_Nonsense_Mutation_p.W691*|PTPRT_ENST00000373190.1_Nonsense_Mutation_p.W691*|PTPRT_ENST00000373193.3_Nonsense_Mutation_p.W691*|PTPRT_ENST00000373201.1_Nonsense_Mutation_p.W691*|PTPRT_ENST00000373187.1_Nonsense_Mutation_p.W691*	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	691	Fibronectin type-III 4.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GAGGAGGGTTCCAGTAGCCAT	0.502000													8	43					0	0	0.00307968	0	0
LOC101929006	101929006	broad.mit.edu	37	6	29230528	29230528	+	RNA	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:29230528G>A	ENST00000441381.1	+	0	79																											AAAATATATGGAGAAGTTTGC	0.418000													8	50					0	0	0.00307968	0	0
BSN	8927	broad.mit.edu	37	3	49690793	49690793	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:49690793C>T	ENST00000296452.4	+	5	3918	c.3804C>T	c.(3802-3804)gtC>gtT	p.V1268V		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1268					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)		AGAGCATAGTCCGCATGCGGC	0.557000													6	28					0	0	0.00198382	0	0
GPRC5C	55890	broad.mit.edu	37	17	72436807	72436807	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:72436807C>T	ENST00000392627.1	+	2	2153	c.1027C>T	c.(1027-1029)Ccc>Tcc	p.P343S	GPRC5C_ENST00000342648.5_Intron|GPRC5C_ENST00000481232.1_Intron|GPRC5C_ENST00000392629.2_Missense_Mutation_p.P310S	NM_022036.2	NP_071319.2	Q9NQ84	GPC5C_HUMAN	G protein-coupled receptor, family C, group 5, member C	298						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						CTACGTCATCCCCGAGGTCTC	0.622000													13	11					0	0	0.00244969	0	0
TULP1	7287	broad.mit.edu	37	6	35476999	35476999	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:35476999C>T	ENST00000229771.6	-	8	888	c.809G>A	c.(808-810)gGa>gAa	p.G270E	TULP1_ENST00000322263.4_Missense_Mutation_p.G217E	NM_003322.3	NP_003313.3	O00294	TULP1_HUMAN	tubby like protein 1	270					dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						TTTGCCTTTTCCTTTGGCTTT	0.602000													36	268					0	0	0.00148497	0	0
TAOK2	9344	broad.mit.edu	37	16	29997712	29997712	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:29997712C>T	ENST00000308893.4	+	16	3162	c.2119C>T	c.(2119-2121)Cgc>Tgc	p.R707C	TAOK2_ENST00000416441.2_Missense_Mutation_p.R534C|TAOK2_ENST00000279394.3_Missense_Mutation_p.R707C|TAOK2_ENST00000543033.1_Missense_Mutation_p.R707C	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	707					actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						TGAGCTCACCCGCCTGCAGCA	0.682000													8	14					0	0	0.00307968	0	0
IL7R	3575	broad.mit.edu	37	5	35876369	35876369	+	Silent	SNP	C	C	T	rs139678300		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:35876369C>T	ENST00000303115.3	+	8	1290	c.1161C>T	c.(1159-1161)tcC>tcT	p.S387S	IL7R_ENST00000343305.4_3'UTR	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	387					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			CTTCCAGGTCCCTAGACTGCA	0.537000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency						4	18					0	0	0.00024832	0	0
VARS	7407	broad.mit.edu	37	6	31750958	31750958	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:31750958C>T	ENST00000375663.3	-	14	2117	c.1677G>A	c.(1675-1677)ctG>ctA	p.L559L	VARS_ENST00000444930.2_Silent_p.L264L	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	559					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	TCTTCCCCTTCAGGTGCTGGG	0.562000													14	138					0	0	0.000566183	0	0
TAS1R2	80834	broad.mit.edu	37	1	19184086	19184086	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:19184086G>A	ENST00000375371.3	-	2	243	c.222C>T	c.(220-222)gcC>gcT	p.A74A	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	74					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	CAAAGCGCATGGCCTGCATGA	0.527000													6	36					0	0	0.00307968	0	0
MTSS1	9788	broad.mit.edu	37	8	125575043	125575043	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:125575043G>A	ENST00000518547.1	-	10	1488	c.1015C>T	c.(1015-1017)Ccg>Tcg	p.P339S	MTSS1_ENST00000523587.1_5'UTR|MTSS1_ENST00000395508.2_Missense_Mutation_p.P73S|NDUFB9_ENST00000522532.1_Intron|MTSS1_ENST00000378017.3_Missense_Mutation_p.P339S|MTSS1_ENST00000431961.2_Missense_Mutation_p.P139S|MTSS1_ENST00000524090.1_Missense_Mutation_p.P229S|MTSS1_ENST00000354184.4_Missense_Mutation_p.P139S|MTSS1_ENST00000325064.5_Missense_Mutation_p.P343S	NM_014751.4	NP_055566.3	O43312	MTSS1_HUMAN	metastasis suppressor 1	339	Ser-rich.				actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			GCCTCTGGCGGCATGGGGGAT	0.612000													15	49					0	0	0.00074312	0	0
MOV10	4343	broad.mit.edu	37	1	113231667	113231667	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:113231667C>T	ENST00000369644.1	+	4	1109	c.80C>T	c.(79-81)gCc>gTc	p.A27V	MOV10_ENST00000369645.1_Missense_Mutation_p.A83V|MOV10_ENST00000413052.2_Missense_Mutation_p.A83V|MOV10_ENST00000357443.2_Missense_Mutation_p.A83V|MOV10_ENST00000468624.1_3'UTR			Q9HCE1	MOV10_HUMAN	Mov10, Moloney leukemia virus 10, homolog (mouse)	83					mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		GACCGCTGGGCCGACGTGCGG	0.532000													10	45					0	0	0.000442599	0	0
ISLR2	57611	broad.mit.edu	37	15	74425652	74425652	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:74425652G>A	ENST00000361742.3	+	4	1326	c.557G>A	c.(556-558)gGc>gAc	p.G186D	ISLR2_ENST00000435464.1_Missense_Mutation_p.G186D|ISLR2_ENST00000419208.1_Missense_Mutation_p.G186D|ISLR2_ENST00000565159.1_Missense_Mutation_p.G186D|ISLR2_ENST00000453268.2_Missense_Mutation_p.G186D|ISLR2_ENST00000445793.1_Missense_Mutation_p.G186D|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000565540.1_Missense_Mutation_p.G186D	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	186	LRRCT.				positive regulation of axon extension	cell surface|integral to membrane|plasma membrane				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						TTCCACTGCGGCTGCGGCCTT	0.662000													12	73					0	0	0.00244969	0	0
RERGL	79785	broad.mit.edu	37	12	18234401	18234401	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:18234401C>T	ENST00000229002.2	-	6	548	c.342G>A	c.(340-342)gtG>gtA	p.V114V	RERGL_ENST00000541632.1_5'UTR|RERGL_ENST00000538724.1_Silent_p.V113V|RERGL_ENST00000536890.1_3'UTR	NM_024730.2	NP_079006.1	Q9H628	RERGL_HUMAN	RERG/RAS-like	114	Small GTPase-like.				signal transduction	membrane	GTP binding|GTPase activity			endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	17						CTGCTGATTCCACAGCTCTGA	0.363000													6	31					0	0	0.00198382	0	0
IGHG2	3501	broad.mit.edu	37	14	106111114	106111114	+	RNA	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:106111114C>T	ENST00000390545.2	-	0	13																											GACCGATGGGCCCTTGGTGGA	0.672000													6	46					0	0	0.000442599	0	0
SAMSN1	64092	broad.mit.edu	37	21	15870776	15870776	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr21:15870776G>A	ENST00000285670.2	-	8	1284	c.1110C>T	c.(1108-1110)ttC>ttT	p.F370F	SAMSN1_ENST00000400566.1_Silent_p.F302F|SAMSN1_ENST00000463807.1_5'UTR|SAMSN1_ENST00000400564.1_Silent_p.F134F	NM_001256370.1	NP_001243299.1	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization signals 1	302					negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		CTTCTTCAAGGAAGTTTTCAG	0.333000													13	55					0	0	0.00316338	0	0
CTNND1	1500	broad.mit.edu	37	11	57581797	57581797	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:57581797C>T	ENST00000524630.1	+	17	3148	c.2635C>T	c.(2635-2637)Cgg>Tgg	p.R879W	CTNND1_ENST00000532787.1_Intron|CTNND1_ENST00000399050.4_Missense_Mutation_p.R885W|CTNND1_ENST00000530094.1_Missense_Mutation_p.R778W|CTNND1_ENST00000526772.1_Missense_Mutation_p.R556W|CTNND1_ENST00000361796.4_Missense_Mutation_p.R879W|CTNND1_ENST00000531014.1_Missense_Mutation_p.R556W|CTNND1_ENST00000532463.1_Missense_Mutation_p.R778W|CTNND1_ENST00000361332.4_Missense_Mutation_p.R879W|CTNND1_ENST00000529919.1_Missense_Mutation_p.R885W|CTNND1_ENST00000361391.6_Intron|CTNND1_ENST00000526938.1_Intron|CTNND1_ENST00000399039.4_Missense_Mutation_p.R885W|CTNND1_ENST00000533667.1_Intron|CTNND1_ENST00000532649.1_Missense_Mutation_p.R825W|CTNND1_ENST00000360682.6_Intron|CTNND1_ENST00000532844.1_Missense_Mutation_p.R831W|CTNND1_ENST00000529873.1_Intron|CTNND1_ENST00000529526.1_Missense_Mutation_p.R825W|CTNND1_ENST00000530748.1_Missense_Mutation_p.R831W|CTNND1_ENST00000415361.2_Missense_Mutation_p.R784W|CTNND1_ENST00000529986.1_Missense_Mutation_p.R778W|CTNND1_ENST00000426142.2_Missense_Mutation_p.R778W|CTNND1_ENST00000428599.2_Missense_Mutation_p.R879W|CTNND1_ENST00000534579.1_Missense_Mutation_p.R825W|CTNND1_ENST00000525902.1_Missense_Mutation_p.R562W|CTNND1_ENST00000358694.6_Missense_Mutation_p.R879W|CTNND1_ENST00000528232.1_Missense_Mutation_p.R784W|CTNND1_ENST00000532245.1_Missense_Mutation_p.R778W|CTNND1_ENST00000528621.1_Missense_Mutation_p.R825W|CTNND1_ENST00000527467.1_Missense_Mutation_p.R562W|CTNND1_ENST00000526357.1_Missense_Mutation_p.R825W			O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	885					adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				GAAACCTGATCGGGAAGAAAT	0.373000													7	21					0	0	0.00198382	0	0
DSG3	1830	broad.mit.edu	37	18	29054139	29054139	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:29054139G>A	ENST00000257189.4	+	15	2240	c.2157G>A	c.(2155-2157)atG>atA	p.M719I		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	719					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CTTCAGGAATGGAAATGACCA	0.478000													16	46					0	0	0.00121646	0	0
ZDHHC8	29801	broad.mit.edu	37	22	20132801	20132801	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr22:20132801C>T	ENST00000334554.7	+	11	2317	c.2176C>T	c.(2176-2178)Ccg>Tcg	p.P726S	ZDHHC8_ENST00000320602.7_Missense_Mutation_p.P634S|ZDHHC8_ENST00000405930.3_Intron	NM_013373.3	NP_037505.1	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC-type containing 8	726						cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20	Colorectal(54;0.0993)					TGGGCAGTCCCCGGGCCTGGC	0.632000													11	44					0	0	0.000978159	0	0
FAM57B	83723	broad.mit.edu	37	16	30036947	30036947	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:30036947G>A	ENST00000564806.1	-	3	535	c.490C>T	c.(490-492)Ccc>Tcc	p.P164S	FAM57B_ENST00000380495.4_Intron|FAM57B_ENST00000279389.4_Intron			Q71RH2	FA57B_HUMAN	family with sequence similarity 57, member B	0	TLC.					endoplasmic reticulum|integral to membrane				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						GGTGAGGGGGGGATGACGAAG	0.622000													4	8					0	0	0.00024832	0	0
DBF4B	80174	broad.mit.edu	37	17	42828219	42828219	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:42828219C>T	ENST00000315005.3	+	14	1584	c.1446C>T	c.(1444-1446)tcC>tcT	p.S482S	DBF4B_ENST00000393547.2_Intron	NM_145663.2	NP_663696.1	Q8NFT6	DBF4B_HUMAN	DBF4 homolog B (S. cerevisiae)	482					cell cycle	nucleus	nucleic acid binding|zinc ion binding			kidney(1)|large_intestine(1)|lung(5)	7		Prostate(33;0.0322)				AAGAAAACTCCTTTGCCCCGG	0.587000													5	46					0	0	0.00198382	0	0
PRDM1	639	broad.mit.edu	37	6	106543594	106543594	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:106543594G>A	ENST00000369096.4	+	3	630	c.396G>A	c.(394-396)agG>agA	p.R132R	PRDM1_ENST00000369091.2_Silent_p.R96R	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	132	SET.				negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		ACGCCAACAGGAAATATTTTT	0.408000			"""D, N, Mis, F, S"""		DLBCL								9	27					0	0	0.000673444	0	0
ADAM18	8749	broad.mit.edu	37	8	39525535	39525535	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:39525535C>T	ENST00000265707.5	+	14	1390	c.1345C>T	c.(1345-1347)Cca>Tca	p.P449S	ADAM18_ENST00000541111.1_5'UTR|ADAM18_ENST00000379866.1_Missense_Mutation_p.P425S	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	449	Disintegrin.				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)			AGCAGGCACTCCATGTAGAAA	0.343000													8	71					0	0	0.000274275	0	0
UGT2B10	7365	broad.mit.edu	37	4	69683876	69683876	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:69683876C>T	ENST00000265403.7	+	2	875	c.848C>T	c.(847-849)cCt>cTt	p.P283L	UGT2B10_ENST00000458688.2_Missense_Mutation_p.P199L	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	283					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						CACTGCAAACCTGCCAAACCC	0.373000													12	61					0	0	0.00244969	0	0
ARHGAP21	57584	broad.mit.edu	37	10	24896788	24896788	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:24896788G>A	ENST00000396432.2	-	10	2953	c.2467C>T	c.(2467-2469)Cct>Tct	p.P823S	ARHGAP21_ENST00000493154.1_5'UTR|ARHGAP21_ENST00000320481.6_Missense_Mutation_p.P610S	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	822					signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						GCAGAGGCAGGGATATGTGCA	0.413000													9	39					0	0	0.000442599	0	0
UBR4	23352	broad.mit.edu	37	1	19471391	19471391	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:19471391A>T	ENST00000375267.2	-	54	7959	c.7956T>A	c.(7954-7956)caT>caA	p.H2652Q	UBR4_ENST00000375226.2_Missense_Mutation_p.H2663Q|UBR4_ENST00000375254.3_Missense_Mutation_p.H2652Q|UBR4_ENST00000375217.2_Missense_Mutation_p.H2680Q			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2652					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TAGCTTCAATATGAGTTAGTC	0.398000													8	45					0	0	0.00307968	0	0
TRIOBP	11078	broad.mit.edu	37	22	38121452	38121452	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr22:38121452C>T	ENST00000406386.3	+	7	3144	c.2889C>T	c.(2887-2889)tcC>tcT	p.S963S	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	963					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CACCCCAGTCCTCCTTTGGCC	0.642000													17	50					0	0	0.000566183	0	0
IGHV4OR15-8	28317	broad.mit.edu	37	15	22473332	22473332	+	RNA	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:22473332G>A	ENST00000557788.2	-	0	21																											ACCAGGAGGAGAAAGAACCAC	0.512000													4	30					0	0	0.000602214	0	0
GLB1	2720	broad.mit.edu	37	3	33038576	33038576	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:33038576G>A	ENST00000307363.5	-	16	2139	c.1995C>T	c.(1993-1995)ccC>ccT	p.P665P	GLB1_ENST00000445488.2_Silent_p.P713P|GLB1_ENST00000307377.8_Silent_p.P534P|GLB1_ENST00000399402.3_Silent_p.P635P	NM_000404.2	NP_000395.2	P16278	BGAL_HUMAN	galactosidase, beta 1	665					carbohydrate metabolic process	lysosome|perinuclear region of cytoplasm	beta-galactosidase activity|cation binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21		Melanoma(143;0.104)				TTTTTTGCGGGGGTGGGGGCA	0.478000													20	43					0	0	0.00229938	0	0
LEPR	3953	broad.mit.edu	37	1	66101927	66101927	+	Silent	SNP	T	T	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:66101927T>C	ENST00000349533.6	+	20	2912	c.2727T>C	c.(2725-2727)ggT>ggC	p.G909G	LEPR_ENST00000406510.3_5'UTR	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	909					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)		TGACATGTGGTCCTCTTCTTT	0.348000													36	134					0	0	0.00195071	0	0
GPR116	221395	broad.mit.edu	37	6	46874486	46874486	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:46874486C>T	ENST00000283296.7	-	2	302	c.14G>A	c.(13-15)aGg>aAg	p.R5K	RP3-365O12.2_ENST00000451135.1_RNA|GPR116_ENST00000456426.2_Missense_Mutation_p.R5K|GPR116_ENST00000362015.4_Missense_Mutation_p.R5K|GPR116_ENST00000265417.7_Missense_Mutation_p.R5K	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	5					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			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)			AGTGGTTCTCCTTGGGGATTT	0.358000													19	85					0	0	0.00121646	0	0
PCLO	27445	broad.mit.edu	37	7	82582551	82582551	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:82582551G>A	ENST00000423517.2	-	5	8055	c.7718C>T	c.(7717-7719)tCc>tTc	p.S2573F	PCLO_ENST00000333891.8_Missense_Mutation_p.S2573F	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2504					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						GAGGGATTTGGAAAATCTTGG	0.423000													103	58					0	0	0.00361006	0	0
ABCC3	8714	broad.mit.edu	37	17	48741436	48741436	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:48741436C>T	ENST00000285238.8	+	10	1382	c.1302C>T	c.(1300-1302)ccC>ccT	p.P434P	ABCC3_ENST00000427699.1_Silent_p.P434P	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	434	ABC transmembrane type-1 1.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	GGTCAGCACCCCTGCAGATCA	0.567000													11	78					0	0	0.000673444	0	0
SSH1	54434	broad.mit.edu	37	12	109181809	109181809	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:109181809G>A	ENST00000326495.5	-	15	3198	c.3105C>T	c.(3103-3105)ccC>ccT	p.P1035P	SSH1_ENST00000360239.3_Silent_p.P723P	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	1035	Interaction with YWHAG.				actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TTTCTGGGGCGGGTTTCCCTG	0.552000													7	44					0	0	0.00307968	0	0
AKAP9	10142	broad.mit.edu	37	7	91674501	91674501	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:91674501C>T	ENST00000359028.2	+	22	5603	c.5378C>T	c.(5377-5379)tCa>tTa	p.S1793L	AKAP9_ENST00000356239.3_Missense_Mutation_p.S1781L|AKAP9_ENST00000358100.2_Missense_Mutation_p.S1793L			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1793					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TCTGTAAAGTCATGTGTCCAT	0.423000			T	BRAF	papillary thyroid								16	73					0	0	0.000566183	0	0
EPHA6	285220	broad.mit.edu	37	3	96706639	96706639	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:96706639C>T	ENST00000389672.5	+	3	954	c.916C>T	c.(916-918)Cgt>Tgt	p.R306C	EPHA6_ENST00000542517.1_Missense_Mutation_p.R212C|EPHA6_ENST00000470610.2_Missense_Mutation_p.R306C	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	211						integral to plasma membrane	ATP binding|ephrin receptor activity			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						CTTCACTGTTCGTAACTTGGC	0.458000													15	63					0	0	0.00316338	0	0
VPS13D	55187	broad.mit.edu	37	1	12328772	12328772	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:12328772C>T	ENST00000358136.3	+	16	1941	c.1811C>T	c.(1810-1812)cCa>cTa	p.P604L	VPS13D_ENST00000356315.4_Missense_Mutation_p.P604L	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	604					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GCTGCAGATCCAGATGGCCCC	0.458000													45	172					0	0	0.00361006	0	0
ARHGEF3	50650	broad.mit.edu	37	3	56763334	56763334	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:56763334G>A	ENST00000413728.2	-	10	2106	c.1563C>T	c.(1561-1563)tcC>tcT	p.S521S	ARHGEF3_ENST00000338458.4_Silent_p.S547S|ARHGEF3_ENST00000496106.1_Silent_p.S521S|ARHGEF3_ENST00000497267.1_Silent_p.S486S|ARHGEF3_ENST00000296315.3_Silent_p.S515S	NM_001128616.1	NP_001122088.1	Q9NR81	ARHG3_HUMAN	Rho guanine nucleotide exchange factor (GEF) 3	515					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	25				KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)		TGTTTCCACAGGAAGAGTCTG	0.512000													16	45					0	0	0.000958276	0	0
ZNF778	197320	broad.mit.edu	37	16	89293788	89293788	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:89293788C>T	ENST00000433976.2	+	6	1340	c.1008C>T	c.(1006-1008)ccC>ccT	p.P336P	RP11-46C24.6_ENST00000563182.1_RNA|ZNF778_ENST00000306502.6_Silent_p.P294P	NM_001201407.1|NM_182531.3	NP_001188336.1|NP_872337.2	Q96MU6	ZN778_HUMAN	zinc finger protein 778	336					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2)	24				BRCA - Breast invasive adenocarcinoma(80;0.0269)		GACAGAAGCCCTATGAATGTA	0.473000													12	51					0	0	0.00316338	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146536841	146536841	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:146536841C>T	ENST00000361727.3	+	3	763	c.247C>T	c.(247-249)Caa>Taa	p.Q83*		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	83	F5/8 type C.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CGACCATTATCAATGGCTTCA	0.468000										HNSCC(39;0.1)			14	52					0	0	0.00074312	0	0
NLRP2	55655	broad.mit.edu	37	19	55508692	55508692	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:55508692G>A	ENST00000543010.1	+	12	3030	c.2887G>A	c.(2887-2889)Gga>Aga	p.G963R	NLRP2_ENST00000538819.1_Missense_Mutation_p.G939R|NLRP2_ENST00000448584.2_Missense_Mutation_p.G963R|NLRP2_ENST00000263437.6_Missense_Mutation_p.G960R|NLRP2_ENST00000391721.4_Missense_Mutation_p.G939R|NLRP2_ENST00000339757.7_Missense_Mutation_p.G941R|NLRP2_ENST00000427260.2_Missense_Mutation_p.G940R|NLRP2_ENST00000537859.1_Missense_Mutation_p.G941R	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	963					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		CAGGTTGTGGGGATGTTCCAT	0.577000													7	51					0	0	0.000274275	0	0
ABCB11	8647	broad.mit.edu	37	2	169792783	169792783	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:169792783C>T	ENST00000263817.6	-	22	2895	c.2771G>A	c.(2770-2772)gGa>gAa	p.G924E		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	924	ABC transmembrane type-1 2.				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	AGAGGCAAATCCTGTCAACAT	0.493000													11	19					0	0	0.00136819	0	0
KRTAP5-3	387266	broad.mit.edu	37	11	1629400	1629400	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:1629400G>A	ENST00000399685.1	-	1	293	c.216C>T	c.(214-216)ggC>ggT	p.G72G		NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN	keratin associated protein 5-3	72	11 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		CCCCCTTGCAGCCCCCACAAG	0.677000													15	30					0	0	0.00244969	0	0
PLCE1	51196	broad.mit.edu	37	10	95791609	95791609	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:95791609C>T	ENST00000260766.3	+	2	1440	c.806C>T	c.(805-807)tCt>tTt	p.S269F	PLCE1_ENST00000371380.2_Missense_Mutation_p.S269F	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	269					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TTTGAAGGCTCTTGTGAGAAG	0.388000													13	30					0	0	0.00185496	0	0
TTN	7273	broad.mit.edu	37	2	179569999	179569999	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:179569999C>T	ENST00000589042.1	-	103	29730	c.29506G>A	c.(29506-29508)Gaa>Aaa	p.E9836K	TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E8592K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E9519K|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589830.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9519	Ig-like 79.						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)			GCATATTTTTCATATTCTTTA	0.368000													9	42					0	0	0.000442599	0	0
SNHG14	104472715	broad.mit.edu	37	15	25488769	25488769	+	RNA	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:25488769G>A	ENST00000453082.2	+	0	2332				SNORD115-40_ENST00000606510.1_RNA	NR_003343.1																						TTGGGTCGATGATGAGAACCT	0.517000													33	157					0	0	0.00111076	0	0
STMN1	3925	broad.mit.edu	37	1	26227983	26227983	+	Splice_Site	SNP	T	T	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:26227983T>C	ENST00000399728.1	-	4	740	c.378_splice	c.e4+1	p.K126_splice	STMN1_ENST00000465604.1_5'UTR|STMN1_ENST00000374291.1_Splice_Site_p.K126_splice|STMN1_ENST00000455785.2_Splice_Site_p.K126_splice|STMN1_ENST00000426559.2_Splice_Site_p.K126_splice|STMN1_ENST00000357865.2_Splice_Site_p.K126_splice	NM_203401.1	NP_981946.1	P16949	STMN1_HUMAN	stathmin 1	126					cell differentiation|intracellular signal transduction|microtubule depolymerization|mitotic spindle organization|nervous system development|response to virus	cytoplasm|microtubule	signal transducer activity|tubulin binding			breast(2)|large_intestine(2)|skin(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000163)|all_lung(284;0.000234)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.013)|READ - Rectum adenocarcinoma(331;0.0649)		GAAACCAACCTTCTCTCGCAA	0.413000													18	112					0	0	0.00074312	0	0
DSPP	1834	broad.mit.edu	37	4	88533671	88533671	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:88533671G>A	ENST00000399271.1	+	4	453	c.333G>A	c.(331-333)ggG>ggA	p.G111G	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000282478.7_Silent_p.G111G	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													5	15					0	0	0.000602214	0	0
NGEF	25791	broad.mit.edu	37	2	233756123	233756123	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:233756123G>A	ENST00000264051.3	-	8	1495	c.1217C>T	c.(1216-1218)tCc>tTc	p.S406F	NGEF_ENST00000373552.4_Missense_Mutation_p.S314F|NGEF_ENST00000539537.1_Missense_Mutation_p.S129F	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	406	DH.				apoptosis|cell differentiation|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	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		GAGGAAGGAGGAGAAGGGCAG	0.622000													9	31					0	0	0.000442599	0	0
CTAGE1	64693	broad.mit.edu	37	18	19995710	19995710	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:19995710G>A	ENST00000391403.2	-	1	2168	c.2065C>T	c.(2065-2067)Ccc>Tcc	p.P689S		NM_172241.2	NP_758441.2	Q96RT6	CTGE2_HUMAN	cutaneous T-cell lymphoma-associated antigen 1	689	Pro-rich.					integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					GGAGGTGGGGGGAAAGGAGGT	0.502000													16	84					0	0	0.000958276	0	0
IGF1	3479	broad.mit.edu	37	12	102811671	102811671	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:102811671G>A	ENST00000307046.8	-	4	694	c.513C>T	c.(511-513)atC>atT	p.I171I	IGF1_ENST00000392904.1_Intron|IGF1_ENST00000424202.2_Intron|IGF1_ENST00000456098.1_Intron|IGF1_ENST00000337514.6_Intron	NM_001111285.1	NP_001104755.1	P05019	IGF1_HUMAN	insulin-like growth factor 1 (somatomedin C)	171					anti-apoptosis|bone mineralization involved in bone maturation|cellular component movement|DNA replication|glycolate metabolic process|muscle hypertrophy|myoblast differentiation|myoblast proliferation|myotube cell development|negative regulation of smooth muscle cell apoptosis|phosphatidylinositol-mediated signaling|platelet activation|platelet degranulation|positive regulation of activated T cell proliferation|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis|positive regulation of osteoblast differentiation|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of Ras protein signal transduction|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat5 protein|Ras protein signal transduction|regulation of multicellular organism growth|satellite cell maintenance involved in skeletal muscle regeneration	platelet alpha granule lumen	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|integrin binding	p.I171M(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)	11						TCTTTCCTCTGATCTGCAGAC	0.463000													52	187					0	0	0.00361006	0	0
TECPR1	25851	broad.mit.edu	37	7	97863002	97863002	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:97863002C>T	ENST00000447648.2	-	11	1702	c.1403G>A	c.(1402-1404)aGg>aAg	p.R468K	TECPR1_ENST00000379795.3_Missense_Mutation_p.R468K|TECPR1_ENST00000542604.1_Missense_Mutation_p.R398K			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	468						integral to membrane	protein binding			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TCTGGCCTCCCTGCTGCCCTC	0.662000													7	50					0	0	0.000673444	0	0
NTN4	59277	broad.mit.edu	37	12	96052866	96052866	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:96052866T>C	ENST00000343702.4	-	10	2331	c.1883A>G	c.(1882-1884)aAg>aGg	p.K628R	NTN4_ENST00000538383.1_Missense_Mutation_p.K591R|NTN4_ENST00000344911.4_Missense_Mutation_p.K591R|NTN4_ENST00000553059.1_Missense_Mutation_p.K605R|PGAM1P5_ENST00000552554.1_RNA	NM_021229.3	NP_067052.2	Q9HB63	NET4_HUMAN	netrin 4	628					axon guidance	basement membrane|plasma membrane				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						TTAATGCTACTTGCACTCTCT	0.353000													17	87					0	0	0.00121646	0	0
ASAP1	50807	broad.mit.edu	37	8	131104305	131104305	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:131104305G>A	ENST00000357668.1	-	24	2513	c.2486C>T	c.(2485-2487)cCc>cTc	p.P829L	ASAP1_ENST00000518721.1_Missense_Mutation_p.P829L			Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	829	Pro-rich.				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						GGGTGGTGGGGGAGGAGGCCT	0.562000													14	86					0	0	0.00244969	0	0
SYT1	6857	broad.mit.edu	37	12	79747310	79747310	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:79747310C>T	ENST00000261205.4	+	9	1496	c.839C>T	c.(838-840)tCc>tTc	p.S280F	SYT1_ENST00000393240.3_Missense_Mutation_p.S280F|SYT1_ENST00000457153.2_Missense_Mutation_p.S277F|SYT1_ENST00000552744.1_Missense_Mutation_p.S280F	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	280	Phospholipid binding (Probable).				detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						ATCTGCTTCTCCCTTCGCTAC	0.388000													16	72					0	0	0.000958276	0	0
INPP5D	3635	broad.mit.edu	37	2	234079751	234079751	+	Silent	SNP	A	A	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:234079751A>C	ENST00000359570.5	+	19	1906	c.1906A>C	c.(1906-1908)Aga>Cga	p.R636R	INPP5D_ENST00000455936.2_Silent_p.R400R|INPP5D_ENST00000450745.1_Silent_p.R400R|INPP5D_ENST00000538935.1_3'UTR			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	648					apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		CCGTTTTGAGAGACTGACTCG	0.507000													7	12					0	0	0.000673444	0	0
FCRL4	83417	broad.mit.edu	37	1	157557143	157557143	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:157557143C>T	ENST00000271532.1	-	5	905	c.770G>A	c.(769-771)gGa>gAa	p.G257E	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	257	Ig-like C2-type 3.					integral to membrane|plasma membrane	receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				CCAATAGGATCCTGAGTTTTC	0.537000													30	94					0	0	0.00209593	0	0
ZNF556	80032	broad.mit.edu	37	19	2877835	2877835	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:2877835G>A	ENST00000586426.1	+	4	963	c.876G>A	c.(874-876)ggG>ggA	p.G292G	ZNF556_ENST00000307635.2_Silent_p.G293G			Q9HAH1	ZN556_HUMAN	zinc finger protein 556	293					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				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)		AGCAGTGTGGGAAAGCCTACT	0.512000													11	19					0	0	0.000673444	0	0
ATP6V0A4	50617	broad.mit.edu	37	7	138453565	138453565	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:138453565C>T	ENST00000310018.2	-	5	533	c.251G>A	c.(250-252)aGc>aAc	p.S84N	ATP6V0A4_ENST00000483139.1_5'UTR|ATP6V0A4_ENST00000353492.4_Missense_Mutation_p.S84N|ATP6V0A4_ENST00000393054.1_Missense_Mutation_p.S84N	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	84					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						GGTCAGTGGGCTTTTCTCGAG	0.493000													5	43					0	0	0.00198382	0	0
STYK1	55359	broad.mit.edu	37	12	10783869	10783869	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:10783869C>T	ENST00000075503.3	-	5	746	c.226G>A	c.(226-228)Gaa>Aaa	p.E76K		NM_018423.2	NP_060893.2	Q6J9G0	STYK1_HUMAN	serine/threonine/tyrosine kinase 1	76						integral to membrane|plasma membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						TGTCCTGCTTCCCAGCTTAGG	0.557000										HNSCC(73;0.22)			6	34					0	0	0.00116845	0	0
PIGV	55650	broad.mit.edu	37	1	27120624	27120624	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:27120624C>T	ENST00000449950.2	+	3	363	c.11C>T	c.(10-12)tCc>tTc	p.S4F	PIGV_ENST00000078527.4_Silent_p.I33I|PIGV_ENST00000374145.1_Silent_p.I33I			Q9NUD9	PIGV_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class V	232					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	glycolipid mannosyltransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	14		all_cancers(24;3.93e-26)|all_epithelial(13;3.96e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.26e-54)|Epithelial(14;2.85e-53)|OV - Ovarian serous cystadenocarcinoma(117;1.91e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000504)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.0222)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227)		ATGCCATCATCCCAGATCACC	0.498000													15	62					0	0	0.00121646	0	0
HHAT	55733	broad.mit.edu	37	1	210536249	210536249	+	Missense_Mutation	SNP	G	G	A	rs141591165		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:210536249G>A	ENST00000367010.1	+	3	372	c.145G>A	c.(145-147)Gga>Aga	p.G49R	HHAT_ENST00000545781.1_Intron|HHAT_ENST00000541565.1_Missense_Mutation_p.G49R|HHAT_ENST00000413764.2_Missense_Mutation_p.G49R|HHAT_ENST00000261458.3_Missense_Mutation_p.G49R|HHAT_ENST00000545154.1_Missense_Mutation_p.G50R|HHAT_ENST00000308852.6_Intron|HHAT_ENST00000391905.3_Missense_Mutation_p.G49R|HHAT_ENST00000537898.1_Missense_Mutation_p.G49R	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	49					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		CACTTTATTTGGAGGATTAAA	0.363000													17	68					0	0	0.00278032	0	0
SLC4A10	57282	broad.mit.edu	37	2	162820767	162820767	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:162820767C>T	ENST00000375514.5	+	22	3215	c.2928C>T	c.(2926-2928)ggC>ggT	p.G976G	SLC4A10_ENST00000272716.5_Silent_p.G965G|SLC4A10_ENST00000415876.2_Silent_p.G965G|SLC4A10_ENST00000421911.1_Silent_p.G995G|SLC4A10_ENST00000446997.1_Silent_p.G995G	NM_001178016.1	NP_001171487.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	995					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						GTTGCCTTGGCCTTTTGTGGA	0.393000													9	37					0	0	0.000673444	0	0
ARHGAP32	9743	broad.mit.edu	37	11	128851345	128851345	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:128851345G>A	ENST00000310343.9	-	16	1703	c.1704C>T	c.(1702-1704)agC>agT	p.S568S	ARHGAP32_ENST00000524655.1_Silent_p.S494S|ARHGAP32_ENST00000527272.1_Silent_p.S219S|ARHGAP32_ENST00000392657.3_Silent_p.S219S	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	568					cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						TGATTCTGCCGCTGAACAGCA	0.527000													13	43					0	0	0.00136819	0	0
HCAR3	8843	broad.mit.edu	37	12	123201251	123201251	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:123201251C>T	ENST00000528880.2	-	1	188	c.34G>A	c.(34-36)Gaa>Aaa	p.E12K	HCAR1_ENST00000356987.2_Intron	NM_006018.2	NP_006009.2	P49019	HCAR3_HUMAN	hydroxycarboxylic acid receptor 3	12						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9					Mepenzolate(DB04843)|Niacin(DB00627)	TTGTCTATTTCCAGAAAGTGA	0.527000													11	101					0	0	0.00244969	0	0
FAM114A2	10827	broad.mit.edu	37	5	153414386	153414386	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:153414386G>A	ENST00000351797.4	-	2	204	c.128C>T	c.(127-129)tCa>tTa	p.S43L	FAM114A2_ENST00000520667.1_Missense_Mutation_p.S43L|FAM114A2_ENST00000520313.1_Intron|FAM114A2_ENST00000522858.1_Missense_Mutation_p.S43L	NM_018691.2	NP_061161.2	Q9NRY5	F1142_HUMAN	family with sequence similarity 114, member A2	43							purine nucleotide binding			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)|urinary_tract(1)	18						TACAGGTTCTGATTTACTCTC	0.473000													29	85					0	0	0.001512	0	0
PSMA8	143471	broad.mit.edu	37	18	23713987	23713987	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:23713987C>T	ENST00000308268.6	+	1	147	c.58C>T	c.(58-60)Caa>Taa	p.Q20*	PSMA8_ENST00000343848.6_Nonsense_Mutation_p.Q20*|PSMA8_ENST00000415576.2_Nonsense_Mutation_p.Q20*	NM_001025096.1|NM_144662.2	NP_001020267.1|NP_653263.2	Q8TAA3	PSA7L_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 8	20					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	threonine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|skin(2)	16	all_cancers(21;0.000585)|Lung NSC(5;0.00148)|all_lung(6;0.0038)|Ovarian(20;0.124)		OV - Ovarian serous cystadenocarcinoma(3;0.000324)|all cancers(3;0.000954)|LUSC - Lung squamous cell carcinoma(2;0.181)			ACACCTTTTTCAAGTTGAATA	0.557000													28	40					0	0	0.00428921	0	0
CMYA5	202333	broad.mit.edu	37	5	79030768	79030768	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:79030768G>A	ENST00000446378.2	+	2	6211	c.6180G>A	c.(6178-6180)gtG>gtA	p.V2060V		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2060						perinuclear region of cytoplasm		p.V2060V(2)		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)		TGGAACAGGTGAAGTCAGAAA	0.463000													10	55					0	0	0.00136819	0	0
DBX2	440097	broad.mit.edu	37	12	45410243	45410243	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:45410243G>A	ENST00000332700.6	-	4	1017	c.846C>T	c.(844-846)gtC>gtT	p.V282V		NM_001004329.2	NP_001004329.2	Q6ZNG2	DBX2_HUMAN	developing brain homeobox 2	282						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	22	Lung SC(27;0.192)	Lung NSC(34;0.142)		GBM - Glioblastoma multiforme(48;0.0515)		GCTGTTGGGGGACGTCCCATA	0.507000													9	35					0	0	0.000978159	0	0
XAB2	56949	broad.mit.edu	37	19	7689244	7689244	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:7689244C>T	ENST00000358368.4	-	7	947	c.910G>A	c.(910-912)Gag>Aag	p.E304K	XAB2_ENST00000534844.1_Missense_Mutation_p.E301K	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	304					transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						ATCATGCTCTCCTCGAACTGG	0.652000								Direct reversal of damage;Nucleotide excision repair (NER)					7	39					0	0	0.00307968	0	0
TSPAN13	27075	broad.mit.edu	37	7	16817517	16817517	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:16817517C>T	ENST00000262067.4	+	4	840	c.407C>T	c.(406-408)cCa>cTa	p.P136L	TSPAN13_ENST00000466195.1_3'UTR	NM_014399.3	NP_055214.1	O95857	TSN13_HUMAN	tetraspanin 13	136						integral to plasma membrane|membrane fraction				autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	7	Lung NSC(10;0.0494)|all_lung(11;0.109)			UCEC - Uterine corpus endometrioid carcinoma (126;0.188)		AGTGTTAACCCAAATGACACC	0.383000													47	32					0	0	0.00361006	0	0
BTRC	8945	broad.mit.edu	37	10	103281544	103281544	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:103281544C>T	ENST00000370187.3	+	5	591	c.473C>T	c.(472-474)tCc>tTc	p.S158F	BTRC_ENST00000393441.4_Missense_Mutation_p.S117F|BTRC_ENST00000408038.2_Missense_Mutation_p.S122F	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	158	Homodimerization domain D.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway	cytosol|nucleus|SCF ubiquitin ligase complex				endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		CATCTTATATCCCAAATGTGT	0.393000													17	61					0	0	0.000958276	0	0
AUTS2	26053	broad.mit.edu	37	7	70255391	70255391	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:70255391C>T	ENST00000342771.4	+	19	3510	c.3189C>T	c.(3187-3189)taC>taT	p.Y1063Y	AUTS2_ENST00000406775.2_Silent_p.Y1039Y	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	1063										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)		GCTTCCCGTACCCTTCTTTCC	0.612000													13	5					0	0	0.00136819	0	0
LRP1B	53353	broad.mit.edu	37	2	141130635	141130635	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:141130635C>T	ENST00000389484.3	-	69	11681	c.10710G>A	c.(10708-10710)tgG>tgA	p.W3570*		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3570	LDL-receptor class A 27.				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)		CATCACATTTCCATTTTGCTG	0.358000										TSP Lung(27;0.18)			23	31					0	0	0.00332997	0	0
AKAP17A	8227	broad.mit.edu	37	X	1714278	1714278	+	Splice_Site	SNP	T	T	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:1714278T>C	ENST00000313871.3	+	3	960	c.762_splice	c.e3-1	p.V255_splice	AKAP17A_ENST00000381261.3_Splice_Site_p.V255_splice	NM_005088.2	NP_005079.2	Q02040	AK17A_HUMAN	A kinase (PRKA) anchor protein 17A	255	RRM.				B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction	nuclear speck|spliceosomal complex	nucleotide binding|protein binding|RNA binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)	26						CTTTTAAAGGTTTCTTTTGAT	0.537000													45	106					0	0	0.00361006	0	0
GFRAL	389400	broad.mit.edu	37	6	55264064	55264064	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:55264064C>T	ENST00000340465.2	+	7	1125	c.1039C>T	c.(1039-1041)Ccc>Tcc	p.P347S		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	347						integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			ATTTCATTCCCCCTTCAATGG	0.289000													8	37					0	0	0.00307968	0	0
TSPAN12	23554	broad.mit.edu	37	7	120446636	120446636	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:120446636G>A	ENST00000222747.3	-	7	1186	c.579C>T	c.(577-579)gcC>gcT	p.A193A	TSPAN12_ENST00000415871.1_Silent_p.A193A	NM_012338.3	NP_036470.1	O95859	TSN12_HUMAN	tetraspanin 12	193					angiogenesis|cell surface receptor linked signaling pathway|regulation of angiogenesis|retina layer formation	integral to plasma membrane|membrane fraction				endometrium(3)|kidney(1)|lung(4)|ovary(1)|skin(1)	10	all_neural(327;0.117)					CTTCCTGGTGGGCCTGTTTGG	0.408000													12	43					0	0	0.00244969	0	0
KIF13B	23303	broad.mit.edu	37	8	28998067	28998067	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:28998067C>T	ENST00000524189.1	-	20	2440	c.2402G>A	c.(2401-2403)gGg>gAg	p.G801E	CTD-2647L4.1_ENST00000517632.1_RNA|CTD-2647L4.1_ENST00000523661.1_RNA	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	801					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)		ATTGGCCACCCCAATGAGACT	0.413000													11	43					0	0	0.000978159	0	0
DLG4	1742	broad.mit.edu	37	17	7095232	7095232	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:7095232G>A	ENST00000399510.2	-	20	2937	c.2085C>T	c.(2083-2085)ccC>ccT	p.P695P	DLG4_ENST00000399506.2_Silent_p.P652P|DLG4_ENST00000302955.6_Silent_p.P649P	NM_001365.3	NP_001356.1	P78352	DLG4_HUMAN	discs, large homolog 4 (Drosophila)	652	Guanylate kinase-like.				axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein binding|protein C-terminus binding	p.P649P(1)|p.P695P(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18						CCAGGGAGCGGGGGCGGATGA	0.667000													11	48					0	0	0.00185496	0	0
SLCO1B7	338821	broad.mit.edu	37	12	21172303	21172303	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:21172303C>T	ENST00000421593.2	+	2	207	c.207C>T	c.(205-207)ttC>ttT	p.F69F	LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000553473.1_Intron|LST3_ENST00000540229.1_Intron|SLCO1B7_ENST00000554957.1_Intron	NM_001009562.4	NP_001009562.3			solute carrier organic anion transporter family, member 1B7 (non-functional)											endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(25)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						TACCACATTTCTTCATGGGAT	0.318000													9	41					0	0	0.000442599	0	0
SH2D3A	10045	broad.mit.edu	37	19	6754925	6754925	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:6754925G>A	ENST00000245908.6	-	5	1167	c.898C>T	c.(898-900)Caa>Taa	p.Q300*	SH2D3A_ENST00000437152.3_Nonsense_Mutation_p.Q178*	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	300					JNK cascade|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						TGCAGGACTTGGGGTTCCAGG	0.602000													16	57					0	0	0.00400662	0	0
CRISP3	10321	broad.mit.edu	37	6	49698930	49698930	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:49698930C>T	ENST00000433368.2	-	7	694	c.625G>A	c.(625-627)Gaa>Aaa	p.E209K	CRISP3_ENST00000371159.4_Missense_Mutation_p.E217K|CRISP3_ENST00000263045.4_Missense_Mutation_p.E199K|CRISP3_ENST00000423399.2_Missense_Mutation_p.E96K|CRISP3_ENST00000393666.1_Missense_Mutation_p.E186K	NM_001190986.1	NP_001177915.1	P54108	CRIS3_HUMAN	cysteine-rich secretory protein 3	186					innate immune response	proteinaceous extracellular matrix|specific granule				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			GCTCCTTGTTCATAAGGGACA	0.328000													24	125					0	0	0.00395357	0	0
KAZALD1	81621	broad.mit.edu	37	10	102824124	102824124	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:102824124G>A	ENST00000370200.5	+	3	944	c.618G>A	c.(616-618)agG>agA	p.R206R		NM_030929.4	NP_112191.2	Q96I82	KAZD1_HUMAN	Kazal-type serine peptidase inhibitor domain 1	206	Ig-like C2-type.				cell differentiation|multicellular organismal development|ossification|regulation of cell growth		insulin-like growth factor binding			endometrium(1)|ovary(1)|prostate(2)	4				Epithelial(162;6.21e-09)|all cancers(201;3.14e-07)		TCGAGTGGAGGAAGGATGGCT	0.572000													6	19					0	0	0.00116845	0	0
GPC3	2719	broad.mit.edu	37	X	132887946	132887946	+	Nonsense_Mutation	SNP	G	G	A	rs104894855		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:132887946G>A	ENST00000370818.3	-	3	1040	c.595C>T	c.(595-597)Cga>Tga	p.R199*	GPC3_ENST00000543339.1_Nonsense_Mutation_p.R145*|GPC3_ENST00000394299.2_Nonsense_Mutation_p.R199*	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN	glypican 3	199						extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					CTTGCTCCTCGGAGGCACTCA	0.478000			"""T, D, Mis, N, F, S"""			Wilms tumour			Simpson-Golabi-Behmel syndrome				20	52					0	0	0.00188189	0	0
SLC44A5	204962	broad.mit.edu	37	1	75707697	75707697	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:75707697G>A	ENST00000370855.5	-	9	634	c.521C>T	c.(520-522)cCc>cTc	p.P174L	SLC44A5_ENST00000370859.3_Missense_Mutation_p.P174L|SLC44A5_ENST00000535611.1_Missense_Mutation_p.P44L	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	174						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						AGGTTTGCTGGGAAAAATCGC	0.363000													12	45					0	0	0.00185496	0	0
CORO1B	57175	broad.mit.edu	37	11	67205906	67205906	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:67205906C>T	ENST00000393893.1	-	12	1514	c.1411G>A	c.(1411-1413)Ggc>Agc	p.G471S	CORO1B_ENST00000341356.5_Missense_Mutation_p.G471S|CORO1B_ENST00000539724.1_5'UTR	NM_001018070.2	NP_001018080.1	Q9BR76	COR1B_HUMAN	coronin, actin binding protein, 1B	471					actin cytoskeleton organization	actin cytoskeleton|cytoplasm	actin filament binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			ATGCGGTCGCCCTGCTCCTTG	0.697000													5	28					0	0	0.000602214	0	0
CYP2D6	1565	broad.mit.edu	37	22	42525764	42525764	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr22:42525764G>A	ENST00000360608.5	-	2	442	c.328C>T	c.(328-330)Ctg>Ttg	p.L110L	NDUFA6-AS1_ENST00000439129.1_RNA|NDUFA6-AS1_ENST00000416037.1_RNA|CYP2D6_ENST00000389970.3_Silent_p.L110L|CYP2D6_ENST00000359033.4_Silent_p.L110L	NM_000106.5	NP_000097.3	Q6NWU0	Q6NWU0_HUMAN	cytochrome P450, family 2, subfamily D, polypeptide 6	110							electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CCGAAACCCAGGATCTGGGTG	0.697000													4	20					0	0	0.000602214	0	0
GRK4	2868	broad.mit.edu	37	4	3015492	3015492	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:3015492G>A	ENST00000398052.4	+	8	1021	c.678G>A	c.(676-678)agG>agA	p.R226R	GRK4_ENST00000398051.4_Silent_p.R194R|GRK4_ENST00000345167.6_Silent_p.R194R|GRK4_ENST00000504933.1_Silent_p.R226R	NM_182982.2	NP_892027.2	P32298	GRK4_HUMAN	G protein-coupled receptor kinase 4	226	Protein kinase.					cell cortex	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			lung(1)|upper_aerodigestive_tract(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TAAAGAAGAGGAAAGGTGAAG	0.378000													30	88					0	0	0.00209593	0	0
PDGFC	56034	broad.mit.edu	37	4	157771520	157771520	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:157771520C>T	ENST00000502773.1	-	2	657	c.167G>A	c.(166-168)gGa>gAa	p.G56E	PDGFC_ENST00000422544.2_Missense_Mutation_p.G56E|PDGFC_ENST00000541126.1_Intron	NM_016205.2	NP_057289.1	Q9NRA1	PDGFC_HUMAN	platelet derived growth factor C	56	CUB.				central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of cell division|positive regulation of DNA replication|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway	endoplasmic reticulum lumen|extracellular space|Golgi membrane|nucleus	cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		GTGAATACTTCCATTAGTAGA	0.348000													9	23					0	0	0.000442599	0	0
SLC5A11	115584	broad.mit.edu	37	16	24920276	24920276	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:24920276G>A	ENST00000347898.3	+	14	2131	c.1509G>A	c.(1507-1509)caG>caA	p.Q503Q	SLC5A11_ENST00000565769.1_Silent_p.Q439Q|SLC5A11_ENST00000449109.2_Silent_p.Q347Q|SLC5A11_ENST00000424767.2_Silent_p.Q468Q|SLC5A11_ENST00000569071.1_Silent_p.Q347Q|SLC5A11_ENST00000567758.1_Silent_p.Q468Q|SLC5A11_ENST00000545376.1_Silent_p.Q433Q|SLC5A11_ENST00000568579.1_Silent_p.Q433Q|SLC5A11_ENST00000539472.1_Silent_p.Q439Q	NM_052944.3	NP_443176.2	Q8WWX8	SC5AB_HUMAN	solute carrier family 5 (sodium/inositol cotransporter), member 11	503					apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		TTTACGTGCAGCCTCGATGCG	0.557000													9	28					0	0	0.000274275	0	0
SRPX2	27286	broad.mit.edu	37	X	99920601	99920601	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:99920601C>A	ENST00000373004.3	+	7	1156	c.728C>A	c.(727-729)gCc>gAc	p.A243D		NM_014467.2	NP_055282.1	O60687	SRPX2_HUMAN	sushi-repeat containing protein, X-linked 2	243	HYR.				angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation	cytoplasm|extracellular region	receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						CGTTACACTGCCTATGACCGA	0.483000													43	45					6.27289e-28	1.83785e-27	0.00361006	1	0
ZBTB9	221504	broad.mit.edu	37	6	33423927	33423927	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:33423927G>A	ENST00000395064.2	+	2	1318	c.1050G>A	c.(1048-1050)ggG>ggA	p.G350G		NM_152735.3	NP_689948.1	Q96C00	ZBTB9_HUMAN	zinc finger and BTB domain containing 9	350	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2)	11						ATCTTCATGGGAATGAAATCC	0.607000													7	25					0	0	0.00198382	0	0
OR6V1	346517	broad.mit.edu	37	7	142749652	142749652	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:142749652C>A	ENST00000418316.1	+	1	236	c.215C>A	c.(214-216)aCc>aAc	p.T72N		NM_001001667.1	NP_001001667.1	Q8N148	OR6V1_HUMAN	olfactory receptor, family 6, subfamily V, member 1	72					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					ATCTTGGTAACCATGACTGCA	0.493000													19	115					6.49762e-13	1.8987e-12	0.00074312	1	0
ARHGEF2	9181	broad.mit.edu	37	1	155935153	155935153	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:155935153G>A	ENST00000368316.1	-	10	910	c.440C>T	c.(439-441)tCc>tTc	p.S147F	ARHGEF2_ENST00000368315.3_Missense_Mutation_p.S175F|ARHGEF2_ENST00000361247.4_Missense_Mutation_p.S174F|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.S147F|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.S174F			Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	174					actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					GGAGTCTGTGGACTGTGAGAG	0.577000													14	40					0	0	0.00074312	0	0
NOL6	65083	broad.mit.edu	37	9	33465871	33465871	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:33465871C>G	ENST00000379471.2	-	19	2476	c.2389G>C	c.(2389-2391)Gtg>Ctg	p.V797L	NOL6_ENST00000455041.2_Missense_Mutation_p.V745L|NOL6_ENST00000464829.1_Intron			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	797					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		TGATAGGCCACGCGAATCCGA	0.577000													8	14					0	0	0.000673444	0	0
GRXCR2	643226	broad.mit.edu	37	5	145246210	145246210	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:145246210C>T	ENST00000377976.1	-	2	417	c.418G>A	c.(418-420)Gat>Aat	p.D140N		NM_001080516.1	NP_001073985.1	A6NFK2	GRCR2_HUMAN	glutaredoxin, cysteine rich 2	140								p.D140Y(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						CTCACAAAATCTCTCTTGTCC	0.418000													17	72					0	0	0.00074312	0	0
KMT2D	8085	broad.mit.edu	37	12	49434979	49434979	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:49434979C>T	ENST00000301067.7	-	31	6573	c.6574G>A	c.(6574-6576)Gca>Aca	p.A2192T		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		GTGGGCGGTGCCGTGGGGAAG	0.706000													4	8					0	0	0.000602214	0	0
GRB14	2888	broad.mit.edu	37	2	165365284	165365284	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:165365284C>T	ENST00000263915.3	-	7	1433	c.895G>A	c.(895-897)Gga>Aga	p.G299R	GRB14_ENST00000543549.1_Missense_Mutation_p.G212R	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	299	PH.				blood coagulation|leukocyte migration	cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane	SH3/SH2 adaptor activity			breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						GTCGGTGCTCCATGTTTTTTT	0.373000													22	49					0	0	0.00395357	0	0
NCKIPSD	51517	broad.mit.edu	37	3	48719028	48719028	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:48719028G>A	ENST00000294129.2	-	5	903	c.784C>T	c.(784-786)Ccc>Tcc	p.P262S	NCKIPSD_ENST00000341520.4_Missense_Mutation_p.P262S|NCKIPSD_ENST00000416649.2_Missense_Mutation_p.P255S	NM_016453.2	NP_057537.1	Q9NZQ3	SPN90_HUMAN	NCK interacting protein with SH3 domain	262	Pro-rich.				cytoskeleton organization|NLS-bearing substrate import into nucleus|signal transduction	intermediate filament|nucleus	cytoskeletal protein binding|SH3 domain binding			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GCCTTGGAGGGAGGGGGCTGG	0.632000													6	17					0	0	0.00116845	0	0
LRWD1	222229	broad.mit.edu	37	7	102106288	102106288	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:102106288C>T	ENST00000292616.5	+	2	257	c.105C>T	c.(103-105)tcC>tcT	p.S35S		NM_152892.1	NP_690852.1	Q9UFC0	LRWD1_HUMAN	leucine-rich repeats and WD repeat domain containing 1	35					chromatin modification|DNA-dependent DNA replication initiation|establishment of protein localization to chromatin|G1 phase of mitotic cell cycle	centromeric heterochromatin|nuclear origin of replication recognition complex|telomeric heterochromatin	chromatin binding|methyl-CpG binding|methylated histone residue binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|stomach(2)	20						AGCTGCTTTCCGAGCACCTGG	0.622000													7	37					0	0	0.00198382	0	0
COL24A1	255631	broad.mit.edu	37	1	86515844	86515844	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:86515844G>A	ENST00000370571.2	-	11	2234	c.1868C>T	c.(1867-1869)cCt>cTt	p.P623L	COL24A1_ENST00000436319.1_Missense_Mutation_p.P623L	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	623					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)		CGCTTCTCCAGGAGAGCCAAT	0.358000													18	64					0	0	0.00152264	0	0
GABRA6	2559	broad.mit.edu	37	5	161116152	161116152	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:161116152T>G	ENST00000523217.1	+	4	635	c.393T>G	c.(391-393)aaT>aaG	p.N131K	GABRA6_ENST00000274545.5_Missense_Mutation_p.N141K|RP11-348M17.2_ENST00000521984.1_RNA	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	141					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)	TAATGCAGAATGGAACCATTT	0.373000										TCGA Ovarian(5;0.080)			6	27					0	0	0.00198382	0	0
IGHG4	3503	broad.mit.edu	37	14	106091534	106091534	+	RNA	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:106091534G>A	ENST00000390543.2	-	0	359																											GGAACAGGAAGACTGATGGTC	0.627000													7	39					0	0	0.000274275	0	0
SEMA3E	9723	broad.mit.edu	37	7	83029548	83029548	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:83029548C>T	ENST00000307792.3	-	11	1629	c.1162G>A	c.(1162-1164)Gga>Aga	p.G388R	SEMA3E_ENST00000427262.1_Missense_Mutation_p.G328R	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	388	Sema.				axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				TATCTCCCTCCATTTACTTTG	0.383000													6	66					0	0	0.00198382	0	0
SLC2A13	114134	broad.mit.edu	37	12	40223908	40223908	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:40223908C>G	ENST00000280871.4	-	7	1492	c.1442G>C	c.(1441-1443)gGc>gCc	p.G481A		NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 13	481						integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29		Lung NSC(34;0.105)|all_lung(34;0.123)				GATATACCTGCCCCAGGCTGC	0.378000										HNSCC(50;0.14)			4	14					0	0	0.000602214	0	0
MGA	23269	broad.mit.edu	37	15	42028729	42028729	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:42028729C>T	ENST00000219905.7	+	13	4448	c.4267C>T	c.(4267-4269)Cct>Tct	p.P1423S	MGA_ENST00000545763.1_Missense_Mutation_p.P1423S|MGA_ENST00000389936.4_Missense_Mutation_p.P1423S|MGA_ENST00000570161.1_Missense_Mutation_p.P1423S|MGA_ENST00000566586.1_Missense_Mutation_p.P1423S	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	1423						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		TCCATTGTCCCCTGGGAAAAT	0.463000													13	6					0	0	0.00316338	0	0
GALNT15	117248	broad.mit.edu	37	3	16217066	16217066	+	Silent	SNP	G	G	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:16217066G>C	ENST00000339732.5	+	1	911	c.408G>C	c.(406-408)ggG>ggC	p.G136G	GALNT15_ENST00000470031.1_3'UTR|GALNT15_ENST00000437509.1_Silent_p.G136G	NM_054110.4	NP_473451.3			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15																		GGGACTGGGGGGCTGATGAGG	0.637000													4	16					0	0	0.000602214	0	0
ADD1	118	broad.mit.edu	37	4	2886287	2886287	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:2886287C>T	ENST00000355842.3	+	5	1267	c.404C>T	c.(403-405)tCt>tTt	p.S135F	ADD1_ENST00000398129.1_Missense_Mutation_p.S135F|ADD1_ENST00000503455.2_Missense_Mutation_p.S135F|ADD1_ENST00000446856.1_Missense_Mutation_p.S135F|ADD1_ENST00000398123.2_Missense_Mutation_p.S135F|ADD1_ENST00000398125.1_Missense_Mutation_p.S135F|ADD1_ENST00000513328.2_Missense_Mutation_p.S135F|ADD1_ENST00000264758.7_Missense_Mutation_p.S135F			P35611	ADDA_HUMAN	adducin 1 (alpha)	135					actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding	cytosol|F-actin capping protein complex|nucleus|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GGATCTGATTCTATTGCGTAT	0.418000													32	126					0	0	0.00128727	0	0
POLR3A	11128	broad.mit.edu	37	10	79778949	79778949	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:79778949G>A	ENST00000372371.3	-	9	1397	c.1260C>T	c.(1258-1260)ttC>ttT	p.F420F	POLR3A_ENST00000484760.1_5'UTR	NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	420					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			TCTGCTGAATGAAGTTTGCTC	0.413000													21	44					0	0	0.000878237	0	0
TEDDM1	127670	broad.mit.edu	37	1	182368920	182368920	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:182368920G>A	ENST00000367565.1	-	1	831	c.701C>T	c.(700-702)aCt>aTt	p.T234I		NM_172000.3	NP_741997.3	Q5T9Z0	TEDM1_HUMAN	transmembrane epididymal protein 1	234						integral to membrane				haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(2)	7						TTTGGGCCCAGTCAGCTTCAA	0.488000													8	38					0	0	0.000274275	0	0
TTN	7273	broad.mit.edu	37	2	179438574	179438574	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:179438574C>T	ENST00000589042.1	-	326	72509	c.72285G>A	c.(72283-72285)agG>agA	p.R24095R	TTN_ENST00000342175.6_Silent_p.R15222R|TTN_ENST00000460472.2_Silent_p.R15030R|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Silent_p.R21527R|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Silent_p.R22454R|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Silent_p.R15155R|TTN-AS1_ENST00000592750.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	22454	Fibronectin type-III 75.						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)			CACCACTATCCCTTCTTGTTG	0.413000													14	33					0	0	0.00074312	0	0
NDST4	64579	broad.mit.edu	37	4	115858527	115858527	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:115858527G>A	ENST00000264363.2	-	5	2032	c.1354C>T	c.(1354-1356)Cca>Tca	p.P452S		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	452	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		TTCAGATGTGGATATTCTTCA	0.468000													16	36					0	0	0.00074312	0	0
ZNF483	158399	broad.mit.edu	37	9	114304503	114304503	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:114304503G>A	ENST00000309235.5	+	6	1446	c.1288G>A	c.(1288-1290)Gag>Aag	p.E430K	ZNF483_ENST00000358151.4_Intron	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	430					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						AAATAAAGATGAGGGAAATGA	0.388000													16	30					0	0	0.00400662	0	0
WDR33	55339	broad.mit.edu	37	2	128467267	128467267	+	Splice_Site	SNP	C	C	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:128467267C>A	ENST00000322313.4	-	19	3630	c.3472_splice	c.e19+1	p.G1158_splice		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	1158					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		ACTCGCTCACCTCGTGGGGTA	0.527000													22	63					3.08376e-08	8.97475e-08	0.00332997	1	0
WDR65	149465	broad.mit.edu	37	1	43675604	43675604	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:43675604C>T	ENST00000528956.1	+	11	2092	c.1946C>T	c.(1945-1947)tCc>tTc	p.S649F	WDR65_ENST00000372492.4_Intron	NM_001167965.1|NM_152498.3	NP_001161437.1|NP_689711.2	Q96MR6	WDR65_HUMAN	WD repeat domain 65	0										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				AGGGCCCTCTCCCCAGGAACC	0.527000													7	33					0	0	0.000442599	0	0
SUSD2	56241	broad.mit.edu	37	22	24579502	24579502	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr22:24579502C>T	ENST00000358321.3	+	3	588	c.327C>T	c.(325-327)tcC>tcT	p.S109S		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	109					immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						ATGTGGACTCCTCCGGGCAAG	0.622000													7	31					0	0	0.000274275	0	0
CYP7A1	1581	broad.mit.edu	37	8	59404192	59404192	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:59404192C>T	ENST00000301645.3	-	6	1494	c.1357G>A	c.(1357-1359)Gaa>Aaa	p.E453K		NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A, polypeptide 1	453					bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				TGCTTGATTTCGTGGATAGCG	0.413000									Neonatal Giant Cell Hepatitis				28	131					0	0	0.00375469	0	0
ITGA7	3679	broad.mit.edu	37	12	56088048	56088048	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:56088048G>A	ENST00000257880.7	-	19	2775	c.2556C>T	c.(2554-2556)tcC>tcT	p.S852S	ITGA7_ENST00000555728.1_Silent_p.S852S|ITGA7_ENST00000452168.2_Silent_p.S715S|ITGA7_ENST00000553804.1_Silent_p.S812S|ITGA7_ENST00000347027.6_Silent_p.S802S|ITGA7_ENST00000257879.6_Silent_p.S808S|ITGA7_ENST00000394229.2_Silent_p.S808S|ITGA7_ENST00000394230.2_Silent_p.S812S			Q13683	ITA7_HUMAN	integrin, alpha 7	852					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						ACCCTGCAATGGACAGTGGCA	0.607000													9	61					0	0	0.000673444	0	0
SERPINA12	145264	broad.mit.edu	37	14	94962795	94962795	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:94962795G>A	ENST00000341228.2	-	4	1615	c.820C>T	c.(820-822)Ctt>Ttt	p.L274F	SERPINA12_ENST00000556881.1_Missense_Mutation_p.L274F	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12	274					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		TCATCAGGAAGGATGAAGATG	0.473000													30	45					0	0	0.00283554	0	0
MAP7	9053	broad.mit.edu	37	6	136704882	136704882	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:136704882C>T	ENST00000354570.3	-	6	974	c.564G>A	c.(562-564)tcG>tcA	p.S188S	MAP7_ENST00000454590.1_Silent_p.S210S|MAP7_ENST00000438100.2_Intron|MAP7_ENST00000432797.2_Silent_p.S42S|MAP7_ENST00000544465.1_Silent_p.S173S	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	188					establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		CAACATATTTCGAAAGATTCA	0.398000													11	20					0	0	0.00185496	0	0
C3P1	388503	broad.mit.edu	37	19	10157492	10157492	+	RNA	SNP	T	T	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:10157492T>C	ENST00000495140.1	+	0	1091																				endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1)	13						CTGGAGGAAGTTCACTCTGCC	0.532000													9	38					0	0	0.000274275	0	0
SNED1	25992	broad.mit.edu	37	2	242004773	242004773	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:242004773C>T	ENST00000310397.8	+	21	2772	c.2772C>T	c.(2770-2772)atC>atT	p.I924I	SNED1_ENST00000401884.1_Silent_p.I924I|SNED1_ENST00000405547.3_Silent_p.I924I|SNED1_ENST00000342631.6_Silent_p.I924I	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	924	Fibronectin type-III 1.				cell-matrix adhesion	extracellular region	calcium ion binding			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		GGGTCTCTATCTCCTGGAACC	0.612000													4	11					0	0	0.00024832	0	0
CCDC88B	283234	broad.mit.edu	37	11	64109113	64109113	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:64109113C>T	ENST00000356786.5	+	7	618	c.574C>T	c.(574-576)Cca>Tca	p.P192S	CCDC88B_ENST00000463837.1_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	192					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ACTGTCTGGGCCAGATCCTGG	0.697000													5	22					0	0	0.00116845	0	0
OR4F6	390648	broad.mit.edu	37	15	102346365	102346365	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:102346365C>T	ENST00000328882.4	+	1	464	c.443C>T	c.(442-444)tCc>tTc	p.S148F		NM_001005326.1	NP_001005326.1	Q8NGB9	OR4F6_HUMAN	olfactory receptor, family 4, subfamily F, member 6	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			TTAGTCATTTCCTGGATTATA	0.403000													62	87					0	0	0.00361006	0	0
OBSCN	84033	broad.mit.edu	37	1	228434376	228434376	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:228434376C>T	ENST00000570156.2	+	14	4255	c.4181C>T	c.(4180-4182)tCg>tTg	p.S1394L	OBSCN_ENST00000422127.1_Missense_Mutation_p.S1302L|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.S1302L	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	376	Ig-like 14.|Poly-Ser.			S -> L (in Ref. 1; CAC85749).	apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGCTCCAGTTCGAAAGTGCGC	0.647000													12	63					0	0	0.00185496	0	0
FAM153B	202134	broad.mit.edu	37	5	175528076	175528076	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:175528076G>A	ENST00000253490.4	+	11	646	c.589G>A	c.(589-591)Ggg>Agg	p.G197R	FAM153B_ENST00000512862.1_Intron|FAM153B_ENST00000515817.1_Missense_Mutation_p.G120R|FAM153B_ENST00000510151.1_Missense_Mutation_p.G120R			P0C7A2	F153B_HUMAN	family with sequence similarity 153, member B	197								p.G197W(1)		endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	16	all_cancers(89;0.00406)|Renal(175;0.000269)|Lung NSC(126;0.0103)|all_lung(126;0.0164)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Kidney(146;0.0965)		GGAGGAGCATGGGCCAGGGCA	0.493000													21	180					0	0	0.000953801	0	0
HTR4	3360	broad.mit.edu	37	5	147863878	147863878	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:147863878G>A	ENST00000360693.3	-	7	1279	c.1141C>T	c.(1141-1143)Cca>Tca	p.P381S	HTR4_ENST00000520514.1_Intron|HTR4_ENST00000354217.2_Intron|HTR4_ENST00000521735.1_Intron|HTR4_ENST00000314512.6_Intron|HTR4_ENST00000362016.2_Intron|HTR4_ENST00000377888.3_Intron|HTR4_ENST00000521530.1_Intron|HTR4_ENST00000517929.1_Intron	NM_001040173.2	NP_001035263.1	Q13639	5HT4R_HUMAN	5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled	359					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)	CCTGAGAATGGACCCGCTCTG	0.388000													6	26					0	0	0.00116845	0	0
COL4A6	1288	broad.mit.edu	37	X	107402885	107402885	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:107402885T>A	ENST00000334504.7	-	44	4852	c.4619A>T	c.(4618-4620)aAa>aTa	p.K1540I	COL4A6_ENST00000538570.1_Missense_Mutation_p.K1483I|COL4A6_ENST00000418180.1_Missense_Mutation_p.K75I|COL4A6_ENST00000394872.2_Missense_Mutation_p.K1541I|COL4A6_ENST00000372216.4_Missense_Mutation_p.K1541I|COL4A6_ENST00000545689.1_Missense_Mutation_p.K1516I	NM_033641.2	NP_378667.1	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	1541	Collagen IV NC1.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						CCAGTAAGATTTATCATTGCG	0.577000									Alport syndrome with Diffuse Leiomyomatosis				16	72					0	0	0.00074312	0	0
SGCZ	137868	broad.mit.edu	37	8	14095147	14095147	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:14095147C>T	ENST00000382080.1	-	4	1093	c.378G>A	c.(376-378)gtG>gtA	p.V126V	SGCZ_ENST00000421524.2_Silent_p.V79V	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	113					cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		TTCTTGCATTCACTGTGACAT	0.378000													111	138					0	0	0.00361006	0	0
ASB15	142685	broad.mit.edu	37	7	123270144	123270144	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:123270144G>A	ENST00000451558.1	+	13	2086	c.1565G>A	c.(1564-1566)aGa>aAa	p.R522K	ASB15_ENST00000275699.3_Missense_Mutation_p.R522K|ASB15_ENST00000540573.1_Missense_Mutation_p.R522K|ASB15_ENST00000434204.1_Missense_Mutation_p.R522K|ASB15_ENST00000451215.1_Missense_Mutation_p.R522K			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	522					intracellular signal transduction					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						GAAGTACAGAGAGAATGGCCA	0.368000													16	100					0	0	0.000566183	0	0
ITIH2	3698	broad.mit.edu	37	10	7750997	7750997	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:7750997C>T	ENST00000358415.4	+	4	371	c.205C>T	c.(205-207)Caa>Taa	p.Q69*	ITIH2_ENST00000379587.4_Nonsense_Mutation_p.Q58*|ITIH2_ENST00000480387.1_Intron	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	69	VIT.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						AGAGGTTGATCAAGTAACTCT	0.398000													14	70					0	0	0.00400662	0	0
DPEP2	64174	broad.mit.edu	37	16	68024017	68024017	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:68024017G>A	ENST00000412757.2	-	9	1592	c.927C>T	c.(925-927)gtC>gtT	p.V309V	DPEP2_ENST00000572888.1_Silent_p.V309V|DPEP2_ENST00000393847.1_Silent_p.V309V			Q9H4A9	DPEP2_HUMAN	dipeptidase 2	309					hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|proteolysis	anchored to membrane|plasma membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)		ACACCATCACGACGCCACCGT	0.577000													7	25					0	0	0.00198382	0	0
MYH11	4629	broad.mit.edu	37	16	15841937	15841937	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:15841937G>A	ENST00000338282.6	-	17	2253	c.2147C>T	c.(2146-2148)cCc>cTc	p.P716L	MYH11_ENST00000300036.5_Missense_Mutation_p.P716L|MYH11_ENST00000452625.2_Missense_Mutation_p.P723L|MYH11_ENST00000396324.3_Missense_Mutation_p.P723L|MYH11_ENST00000576790.1_Missense_Mutation_p.P716L	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	716	Myosin head-like.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GATCCGGTTGGGGAAGCCCTG	0.632000			T	CBFB	AML								8	23					0	0	0.000274275	0	0
ZFHX4	79776	broad.mit.edu	37	8	77616520	77616520	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:77616520T>C	ENST00000521891.2	+	2	645	c.197T>C	c.(196-198)gTt>gCt	p.V66A	ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Missense_Mutation_p.V66A|ZFHX4_ENST00000050961.6_Missense_Mutation_p.V66A|ZFHX4_ENST00000455469.2_Missense_Mutation_p.V66A	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	66						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GGTTTCAGCGTTGAGAATGCA	0.493000										HNSCC(33;0.089)			20	72					0	0	0.00152264	0	0
TP63	8626	broad.mit.edu	37	3	189607225	189607225	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:189607225C>T	ENST00000264731.3	+	12	1693	c.1604C>T	c.(1603-1605)tCc>tTc	p.S535F	TP63_ENST00000440651.2_Missense_Mutation_p.S531F|TP63_ENST00000392460.3_Missense_Mutation_p.S535F|TP63_ENST00000449992.1_Missense_Mutation_p.S356F|TP63_ENST00000456148.1_Missense_Mutation_p.S437F|TP63_ENST00000382063.4_Missense_Mutation_p.S450F|TP63_ENST00000392463.2_Missense_Mutation_p.S441F|TP63_ENST00000392461.3_Intron|TP63_ENST00000354600.5_Missense_Mutation_p.S441F|TP63_ENST00000320472.5_Intron	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	535					anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CCATCCACCTCCCACTGCACA	0.617000										HNSCC(45;0.13)			6	24					0	0	0.00198382	0	0
LPAR6	10161	broad.mit.edu	37	13	48985882	48985882	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr13:48985882C>T	ENST00000378434.4	-	7	2302	c.678G>A	c.(676-678)aaG>aaA	p.K226K	LPAR6_ENST00000345941.2_Silent_p.K226K|RB1_ENST00000267163.4_Intron	NM_005767.5	NP_005758.2	P43657	LPAR6_HUMAN	lysophosphatidic acid receptor 6	226						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.0?(15)|p.?(4)		NS(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	14						TTTTTAAAACCTTAGTTTTGT	0.249000													5	20					0	0	0.000602214	0	0
TMEM132B	114795	broad.mit.edu	37	12	126138507	126138507	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:126138507G>A	ENST00000299308.3	+	9	2496	c.2488G>A	c.(2488-2490)Gaa>Aaa	p.E830K	TMEM132B_ENST00000535886.1_Missense_Mutation_p.E342K	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	830						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)		AGCAGTCCAGGAATGGTTCCA	0.488000													15	17					0	0	0.00400662	0	0
SDK1	221935	broad.mit.edu	37	7	4050601	4050601	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:4050601C>T	ENST00000404826.2	+	15	2274	c.2135C>T	c.(2134-2136)tCt>tTt	p.S712F	SDK1_ENST00000389531.3_Missense_Mutation_p.S712F	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	712	Fibronectin type-III 1.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CTTTCAGACTCTCCATGGAAG	0.493000													9	43					0	0	0.000673444	0	0
KRTAP11-1	337880	broad.mit.edu	37	21	32253626	32253626	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr21:32253626C>T	ENST00000332378.4	-	1	248	c.218G>A	c.(217-219)cGa>cAa	p.R73Q		NM_175858.2	NP_787054.1	Q8IUC1	KR111_HUMAN	keratin associated protein 11-1	73						keratin filament	structural molecule activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1)	18						ACATGAAGTTCGCCGGTAACA	0.552000													9	20					0	0	0.000673444	0	0
TET3	200424	broad.mit.edu	37	2	74275145	74275145	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:74275145C>T	ENST00000409262.3	+	1	1696	c.1696C>T	c.(1696-1698)Ccc>Tcc	p.P566S		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	566							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TGGCCCTCTTCCCCCTGCCGA	0.612000													8	23					0	0	0.000442599	0	0
PROX1	5629	broad.mit.edu	37	1	214170452	214170452	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:214170452G>A	ENST00000366958.4	+	2	1182	c.574G>A	c.(574-576)Gag>Aag	p.E192K	PROX1_ENST00000261454.4_Missense_Mutation_p.E192K|PROX1_ENST00000498508.2_Missense_Mutation_p.E192K|PROX1_ENST00000435016.1_Missense_Mutation_p.E192K	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	192					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		AAATGAAAGAGAGATGGCCCC	0.517000													11	37					0	0	0.000978159	0	0
PLCG2	5336	broad.mit.edu	37	16	81990323	81990323	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:81990323C>T	ENST00000359376.3	+	32	3808	c.3594C>T	c.(3592-3594)tcC>tcT	p.S1198S		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	1198					intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						AACTTTACTCCTCCTGTCGCC	0.527000													5	18					0	0	0.00116845	0	0
GMPPA	29926	broad.mit.edu	37	2	220370378	220370378	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:220370378C>T	ENST00000373917.3	+	9	1025	c.954C>T	c.(952-954)ccC>ccT	p.P318P	GMPPA_ENST00000373908.1_Intron|AC053503.11_ENST00000429882.1_RNA|GMPPA_ENST00000358215.3_Intron|GMPPA_ENST00000341142.3_Intron|GMPPA_ENST00000313597.5_Intron			Q96IJ6	GMPPA_HUMAN	GDP-mannose pyrophosphorylase A	285					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20		Renal(207;0.0183)		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)		AATCCCTGCCCCTTCCTGATC	0.567000													8	9					0	0	0.00307968	0	0
CLIP2	7461	broad.mit.edu	37	7	73790984	73790984	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:73790984C>T	ENST00000223398.6	+	10	2580	c.2253C>T	c.(2251-2253)ttC>ttT	p.F751F	CLIP2_ENST00000361545.5_Silent_p.F716F|CLIP2_ENST00000395060.1_Silent_p.F751F	NM_003388.4	NP_003379.3	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	751						microtubule associated complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						CTATCGAGTTCCTCAAGGAGC	0.637000													5	52					0	0	0.00307968	0	0
SLC4A5	57835	broad.mit.edu	37	2	74462304	74462304	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:74462304G>A	ENST00000394019.2	-	22	2754	c.2357C>T	c.(2356-2358)tCc>tTc	p.S786F	SLC4A5_ENST00000377632.1_Missense_Mutation_p.S786F|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000358683.4_Intron|SLC4A5_ENST00000357822.5_Missense_Mutation_p.S786F|SLC4A5_ENST00000346834.4_Missense_Mutation_p.S786F|SLC4A5_ENST00000423644.1_Missense_Mutation_p.S786F|SLC4A5_ENST00000377634.4_Missense_Mutation_p.S786F|SLC4A5_ENST00000359484.4_Intron|SLC4A5_ENST00000483195.1_5'UTR	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 5	786						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						CATCAGGATGGAGAAAACAAT	0.537000													8	12					0	0	0.000274275	0	0
TNR	7143	broad.mit.edu	37	1	175375553	175375553	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:175375553C>T	ENST00000367674.1	-	3	1006	c.298G>A	c.(298-300)Gag>Aag	p.E100K	TNR_ENST00000263525.2_Missense_Mutation_p.E100K	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	100					axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CCCATGTACTCTGCCAGAGTC	0.562000													13	41					0	0	0.00136819	0	0
PTCHD2	57540	broad.mit.edu	37	1	11561677	11561677	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:11561677C>T	ENST00000294484.6	+	2	766	c.628C>T	c.(628-630)Ctg>Ttg	p.L210L	PTCHD2_ENST00000389575.3_Silent_p.L210L	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	210					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		GACCCCGCCCCTGGAGGATCT	0.687000													3	5					0	0	6.4e-05	0	0
CCDC50	152137	broad.mit.edu	37	3	191075887	191075887	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:191075887C>T	ENST00000392455.3	+	3	811	c.213C>T	c.(211-213)gcC>gcT	p.A71A	CCDC50_ENST00000392456.3_Silent_p.A71A	NM_174908.3	NP_777568.1	Q8IVM0	CCD50_HUMAN	coiled-coil domain containing 50	71						cytoplasm	protein binding			endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|stomach(1)	23	all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000136)		AAGCGCAGGCCCAGCTCCAGA	0.552000													8	41					0	0	0.000274275	0	0
IKZF1	10320	broad.mit.edu	37	7	50459490	50459490	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:50459490G>A	ENST00000331340.3	+	7	934	c.779G>A	c.(778-780)aGa>aAa	p.R260K	IKZF1_ENST00000359197.5_Missense_Mutation_p.R218K|IKZF1_ENST00000439701.1_Missense_Mutation_p.R218K|IKZF1_ENST00000349824.4_Intron|IKZF1_ENST00000343574.5_Missense_Mutation_p.R173K|IKZF1_ENST00000438033.1_Missense_Mutation_p.R173K|IKZF1_ENST00000357364.4_Intron|IKZF1_ENST00000440768.2_Silent_p.E217E|IKZF1_ENST00000346667.4_Intron	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	260					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(131)|p.R260I(1)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				GGATCAGAGAGATCTCTCGTG	0.413000			"""D,T"""	BCL6	"""ALL, DLBCL"""								9	64					0	0	0.00136819	0	0
IGHV4OR15-8	28317	broad.mit.edu	37	15	22473327	22473327	+	RNA	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:22473327G>A	ENST00000557788.2	-	0	26																											CTGCCACCAGGAGGAGAAAGA	0.507000													7	28					0	0	0.00307968	0	0
USP29	57663	broad.mit.edu	37	19	57640177	57640177	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:57640177G>A	ENST00000254181.4	+	4	588	c.134G>A	c.(133-135)gGa>gAa	p.G45E	USP29_ENST00000598197.1_Missense_Mutation_p.G45E	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	45					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TTCAAATCTGGAAAATTTATA	0.358000													6	42					0	0	0.00198382	0	0
MARCH6	10299	broad.mit.edu	37	5	10381949	10381949	+	Silent	SNP	A	A	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:10381949A>G	ENST00000274140.5	+	4	360	c.228A>G	c.(226-228)caA>caG	p.Q76Q	MARCH6_ENST00000449913.2_Intron|MARCH6_ENST00000503788.1_Intron	NM_005885.2	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	76					protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						TTCCAATTCAAGACATATTTG	0.363000													33	194					0	0	0.0024448	0	0
FLG2	388698	broad.mit.edu	37	1	152324098	152324098	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:152324098C>T	ENST00000388718.5	-	3	6236	c.6164G>A	c.(6163-6165)gGa>gAa	p.G2055E	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2055							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATGTTGAGATCCGGCTTGGCC	0.522000													32	136					0	0	0.00327116	0	0
DDB1	1642	broad.mit.edu	37	11	61093105	61093105	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:61093105G>A	ENST00000301764.7	-	6	1137	c.740C>T	c.(739-741)gCt>gTt	p.A247V	DDB1_ENST00000545930.1_5'UTR|DDB1_ENST00000450997.2_Intron	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	247	Interaction with CDT1.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						AGGGGCAATAGCCAGGTATTT	0.463000								Nucleotide excision repair (NER)					8	28					0	0	0.000442599	0	0
TNXB	7148	broad.mit.edu	37	6	32012952	32012952	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:32012952G>A	ENST00000375244.3	-	32	10959	c.10758C>T	c.(10756-10758)ttC>ttT	p.F3586F	TNXB_ENST00000375247.2_Silent_p.F3584F|TNXB_ENST00000451343.1_Silent_p.F15F			P22105	TENX_HUMAN	tenascin XB	3631					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						ACTGGACCACGAAGGAATCAA	0.647000													31	275					0	0	0.00222228	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147183040	147183040	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:147183040C>T	ENST00000361727.3	+	11	2200	c.1684C>T	c.(1684-1686)Cac>Tac	p.H562Y		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	562	EGF-like 1.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TGTGCCCAATCACTGTGAGCA	0.458000										HNSCC(39;0.1)			18	115					0	0	0.00278032	0	0
ZNF767	79970	broad.mit.edu	37	7	149318378	149318378	+	RNA	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:149318378G>A	ENST00000463567.1	-	0	458					NR_027788.1				zinc finger family member 767											central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)	5	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00434)			TGCTGCCCGGGGGCAGCCGCA	0.682000													15	78					0	0	0.000566183	0	0
GTF3C1	2975	broad.mit.edu	37	16	27523104	27523104	+	Silent	SNP	G	G	A	rs142782053	byFrequency	TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:27523104G>A	ENST00000356183.4	-	7	1107	c.1092C>T	c.(1090-1092)ttC>ttT	p.F364F	GTF3C1_ENST00000561623.1_Silent_p.F364F	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	364						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						TATCCCGCTCGAACACAATGT	0.507000													13	38					0	0	0.00244969	0	0
LMTK2	22853	broad.mit.edu	37	7	97821025	97821025	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:97821025G>A	ENST00000297293.5	+	11	1541	c.1248G>A	c.(1246-1248)cgG>cgA	p.R416R		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	416					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					AGAGCCAGCGGGACTCAGAGG	0.537000													7	41					0	0	0.00307968	0	0
MAGI2	9863	broad.mit.edu	37	7	77885265	77885265	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:77885265C>T	ENST00000354212.4	-	10	2295	c.2042G>A	c.(2041-2043)cGa>cAa	p.R681Q	MAGI2_ENST00000535697.1_Missense_Mutation_p.R518Q|MAGI2_ENST00000536571.1_Missense_Mutation_p.R513Q|MAGI2_ENST00000522391.1_Missense_Mutation_p.R681Q|MAGI2_ENST00000419488.1_Missense_Mutation_p.R681Q	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	681	PDZ 3.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				CTTACCTCCTCGATGGATAAT	0.368000													7	29					0	0	0.000274275	0	0
PLEC	5339	broad.mit.edu	37	8	144993558	144993558	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:144993558G>A	ENST00000322810.4	-	32	11011	c.10842C>T	c.(10840-10842)ccC>ccT	p.P3614P	PLEC_ENST00000345136.3_Silent_p.P3477P|PLEC_ENST00000354958.2_Silent_p.P3455P|PLEC_ENST00000354589.3_Silent_p.P3477P|PLEC_ENST00000357649.2_Silent_p.P3481P|PLEC_ENST00000356346.3_Silent_p.P3463P|PLEC_ENST00000436759.2_Silent_p.P3504P|PLEC_ENST00000527096.1_Silent_p.P3500P|PLEC_ENST00000398774.2_Silent_p.P3445P	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3614	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	p.P3504P(1)|p.P3614P(1)|p.P3477P(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GGCTGTGCACGGGGTCGATGA	0.677000													14	33					0	0	0.00244969	0	0
FBXL5	26234	broad.mit.edu	37	4	15640311	15640311	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:15640311G>A	ENST00000341285.3	-	4	527	c.403C>T	c.(403-405)Cag>Tag	p.Q135*	FBXL5_ENST00000382358.4_Nonsense_Mutation_p.Q9*|FBXL5_ENST00000412094.2_Nonsense_Mutation_p.Q118*	NM_001193534.1|NM_001193535.1|NM_012161.3	NP_001180463.1|NP_001180464.1|NP_036293.1	Q9UKA1	FBXL5_HUMAN	F-box and leucine-rich repeat protein 5	135	Hemerythrin-like.				iron ion homeostasis|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|SCF ubiquitin ligase complex	iron ion binding|protein binding|ubiquitin-protein ligase activity			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						AACATGGGCTGAAAAACCTAA	0.333000													7	30					0	0	0.00198382	0	0
SLC25A1	6576	broad.mit.edu	37	22	19163960	19163960	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr22:19163960C>T	ENST00000215882.5	-	8	951	c.795G>A	c.(793-795)caG>caA	p.Q265Q	SLC25A1_ENST00000451283.1_Silent_p.Q162Q	NM_005984.3	NP_005975.1	P53007	TXTP_HUMAN	solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1	265					gluconeogenesis|long-chain fatty-acyl-CoA biosynthetic process|mitochondrial citrate transport|triglyceride biosynthetic process	integral to membrane|mitochondrial inner membrane	citrate transmembrane transporter activity|protein binding			cervix(1)|lung(1)	2	Colorectal(54;0.0993)	all_lung(157;9.94e-09)		Lung(27;0.124)		TCTTCAGGATCTGCAAGCCGC	0.642000													5	37					0	0	0.00198382	0	0
OR6C2	341416	broad.mit.edu	37	12	55846762	55846762	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:55846762C>T	ENST00000322678.1	+	1	765	c.765C>T	c.(763-765)ttC>ttT	p.F255F	RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA	NM_054105.1	NP_473446.1	Q9NZP2	OR6C2_HUMAN	olfactory receptor, family 6, subfamily C, member 2	255					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						GCTGCATCTTCATCTATATCA	0.423000													7	27					0	0	0.000442599	0	0
OR10A4	283297	broad.mit.edu	37	11	6898089	6898089	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:6898089G>A	ENST00000379829.2	+	1	234	c.211G>A	c.(211-213)Gag>Aag	p.E71K		NM_207186.2	NP_997069.2	Q9H209	O10A4_HUMAN	olfactory receptor, family 10, subfamily A, member 4	71					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GTCCTTCCTGGAGATAGGTTT	0.453000													11	58					0	0	0.00185496	0	0
BFSP1	631	broad.mit.edu	37	20	17475281	17475281	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:17475281T>C	ENST00000377873.3	-	8	1475	c.1436A>G	c.(1435-1437)tAc>tGc	p.Y479C	BFSP1_ENST00000536626.1_Missense_Mutation_p.Y340C|BFSP1_ENST00000377868.2_Missense_Mutation_p.Y354C|BFSP1_ENST00000544874.1_Missense_Mutation_p.Y340C	NM_001195.3	NP_001186.1	Q12934	BFSP1_HUMAN	beaded filament structural protein 1, filensin	479	Tail.					cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						AGGGTCCACGTAATTGGCATC	0.552000													5	34					0	0	0.000602214	0	0
MYO3B	140469	broad.mit.edu	37	2	171264304	171264304	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:171264304C>T	ENST00000334231.6	+	22	2627	c.2627C>T	c.(2626-2628)tCa>tTa	p.S876L	MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Missense_Mutation_p.S867L|MYO3B_ENST00000408978.4_Missense_Mutation_p.S867L			Q8WXR4	MYO3B_HUMAN	myosin IIIB	867	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity	p.S867*(1)		breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						CTGAGAACGTCAGAAAACAAG	0.453000													9	80					0	0	0.000673444	0	0
ZFP14	57677	broad.mit.edu	37	19	36832073	36832073	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:36832073G>A	ENST00000270001.7	-	5	770	c.655C>T	c.(655-657)Cac>Tac	p.H219Y		NM_020917.2	NP_065968.1	Q9HCL3	ZFP14_HUMAN	ZFP14 zinc finger protein	219					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26	Esophageal squamous(110;0.162)					TGAAGTTTGTGATGTCGAATA	0.443000													13	53					0	0	0.00244969	0	0
CFB	629	broad.mit.edu	37	6	31901725	31901725	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:31901725C>T	ENST00000456570.1	+	4	567	c.512C>T	c.(511-513)cCc>cTc	p.P171L	C2_ENST00000418949.2_Missense_Mutation_p.P233L|CFB_ENST00000477310.1_Intron|C2_ENST00000442278.2_Missense_Mutation_p.P101L|C2_ENST00000452323.2_Missense_Mutation_p.P110L|C2_ENST00000469372.1_Intron|C2_ENST00000299367.5_Missense_Mutation_p.P233L|CFB_ENST00000556679.1_Missense_Mutation_p.P171L			P00751	CFAB_HUMAN	complement factor B	240	Sushi 3.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						GCCACCAATCCCACCCAGAAG	0.597000													21	132					0	0	0.00152264	0	0
PER1	5187	broad.mit.edu	37	17	8045721	8045721	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:8045721C>T	ENST00000317276.4	-	21	3552	c.3315G>A	c.(3313-3315)gaG>gaA	p.E1105E	PER1_ENST00000581082.1_Silent_p.E1082E	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	1105					circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						cagcctcagcctcggAAGAGT	0.617000			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes					6	21					0	0	0.00116845	0	0
OR4X2	119764	broad.mit.edu	37	11	48266725	48266725	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:48266725C>T	ENST00000302329.3	+	1	118	c.70C>T	c.(70-72)Ctg>Ttg	p.L24L		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						TGTGATATTTCTGTTCTTGTA	0.448000													11	49					0	0	0.000978159	0	0
RABL3	285282	broad.mit.edu	37	3	120417366	120417366	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:120417366C>T	ENST00000273375.3	-	5	467	c.438G>A	c.(436-438)ggG>ggA	p.G146G	RABL3_ENST00000491398.1_5'UTR|RABL3_ENST00000483733.1_Silent_p.G146G	NM_173825.3	NP_776186.2	Q5HYI8	RABL3_HUMAN	RAB, member of RAS oncogene family-like 3	146	Small GTPase-like.				small GTPase mediated signal transduction		GTP binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)	17				GBM - Glioblastoma multiforme(114;0.151)		CCAGTTTAGTCCCTATTACCA	0.363000													48	204					0	0	0.00361006	0	0
LEF1	51176	broad.mit.edu	37	4	109004570	109004570	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:109004570G>A	ENST00000379951.2	-	5	1768	c.580C>T	c.(580-582)Cct>Tct	p.P194S	LEF1_ENST00000438313.2_Missense_Mutation_p.P194S|LEF1_ENST00000265165.1_Missense_Mutation_p.P194S|LEF1_ENST00000512172.1_Missense_Mutation_p.P126S|LEF1_ENST00000510624.1_Missense_Mutation_p.P126S	NM_001130713.2|NM_001130714.2	NP_001124185.1|NP_001124186.1	Q9UJU2	LEF1_HUMAN	lymphoid enhancer-binding factor 1	194	Pro-rich.				canonical Wnt receptor signaling pathway|cell chemotaxis|cellular response to interleukin-4|epithelial to mesenchymal transition|histone H3 acetylation|histone H4 acetylation|negative regulation of apoptosis in bone marrow|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell-cell adhesion|negative regulation of DNA binding|negative regulation of estrogen receptor binding|negative regulation of interleukin-13 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of transcription, DNA-dependent|neutrophil differentiation|osteoblast differentiation|palate development|positive regulation by host of viral transcription|positive regulation of cell cycle process|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cell proliferation in bone marrow|positive regulation of cell-cell adhesion|positive regulation of epithelial to mesenchymal transition|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|T-helper 1 cell differentiation	cytoplasm|protein-DNA complex|transcription factor complex	armadillo repeat domain binding|beta-catenin binding|C2H2 zinc finger domain binding|caspase inhibitor activity|DNA bending activity|enhancer binding|estrogen receptor activity|estrogen receptor binding|gamma-catenin binding|histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	25				OV - Ovarian serous cystadenocarcinoma(123;0.000224)		TAAAAAGTAGGGATATCAGGA	0.463000													8	30					0	0	0.000442599	0	0
PRDX3	10935	broad.mit.edu	37	10	120934047	120934047	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:120934047G>A	ENST00000298510.2	-	3	269	c.227C>T	c.(226-228)gCc>gTc	p.A76V	PRDX3_ENST00000356951.3_Missense_Mutation_p.A58V	NM_006793.2	NP_006784.1	P30048	PRDX3_HUMAN	peroxiredoxin 3	76	Thioredoxin.				cell redox homeostasis|hydrogen peroxide catabolic process|mitochondrion organization|myeloid cell differentiation|negative regulation of kinase activity|positive regulation of cell proliferation|positive regulation of NF-kappaB transcription factor activity|regulation of mitochondrial membrane potential|response to lipopolysaccharide	early endosome|mitochondrion	alkyl hydroperoxide reductase activity|caspase inhibitor activity|peroxidase activity|peroxiredoxin activity|protein C-terminus binding|protein kinase binding			endometrium(1)|lung(2)	3		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0245)		ATTGACAACGGCTGTACCCTT	0.408000													10	27					0	0	0.000978159	0	0
PRB2	653247	broad.mit.edu	37	12	11546548	11546548	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:11546548G>A	ENST00000389362.4	-	3	499	c.464C>T	c.(463-465)cCt>cTt	p.P155L	PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3			proline-rich protein BstNI subfamily 2											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			CTTTCCTGGAGGTGGGGGACC	0.602000													17	91					0	0	0.00332997	0	0
SCN10A	6336	broad.mit.edu	37	3	38739449	38739449	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:38739449C>T	ENST00000449082.2	-	27	5261	c.5262G>A	c.(5260-5262)gaG>gaA	p.E1754E		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1754					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	ACTGAGTGGCCTCTGGGTCAA	0.493000													6	34					0	0	0.00198382	0	0
CLHC1	130162	broad.mit.edu	37	2	55449462	55449462	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:55449462C>T	ENST00000401408.1	-	3	431	c.86G>A	c.(85-87)aGa>aAa	p.R29K	CLHC1_ENST00000407122.1_Missense_Mutation_p.R29K|CLHC1_ENST00000406437.2_5'UTR|CLHC1_ENST00000406076.1_Intron|CLHC1_ENST00000494539.1_Intron	NM_152385.2	NP_689598.2			clathrin heavy chain linker domain containing 1																		AATTATGTATCTTTGCACACT	0.348000													31	110					0	0	0.00327116	0	0
SERPINA11	256394	broad.mit.edu	37	14	94909110	94909110	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:94909110C>T	ENST00000334708.3	-	5	1166	c.1102G>A	c.(1102-1104)Ggg>Agg	p.G368R	RP11-349I1.2_ENST00000536735.1_RNA	NM_001080451.1	NP_001073920.1	Q86U17	SPA11_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11	368					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		GCCTCGGTCCCCTTCTCACTC	0.567000													9	13					0	0	0.00136819	0	0
XIRP2	129446	broad.mit.edu	37	2	168105040	168105040	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:168105040C>T	ENST00000409195.1	+	9	7227	c.7138C>T	c.(7138-7140)Ctt>Ttt	p.L2380F	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.L2158F|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.L2380F|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2205					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AGCACATCTCCTTTCCTCCTC	0.463000													7	34					0	0	0.00198382	0	0
CD36	948	broad.mit.edu	37	7	80301345	80301345	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:80301345G>A	ENST00000435819.1	+	14	1798	c.1114G>A	c.(1114-1116)Gat>Aat	p.D372N	CD36_ENST00000432207.1_Missense_Mutation_p.D372N|CD36_ENST00000394788.3_Missense_Mutation_p.D372N|CD36_ENST00000433696.2_Missense_Mutation_p.D333N|CD36_ENST00000534394.1_Missense_Mutation_p.D296N|CD36_ENST00000447544.2_Missense_Mutation_p.D372N|CD36_ENST00000544133.1_3'UTR|CD36_ENST00000538969.1_Missense_Mutation_p.D312N|CD36_ENST00000309881.7_Missense_Mutation_p.D372N			P16671	CD36_HUMAN	CD36 molecule (thrombospondin receptor)	372					cell adhesion|cGMP-mediated signaling|cholesterol transport|lipid metabolic process|lipid storage|lipoprotein transport|low-density lipoprotein particle clearance|nitric oxide mediated signal transduction|plasma membrane long-chain fatty acid transport|platelet activation|platelet degranulation|positive regulation of cell-matrix adhesion|positive regulation of macrophage derived foam cell differentiation	integral to plasma membrane|membrane fraction|platelet alpha granule membrane	lipid binding|low-density lipoprotein receptor activity|thrombospondin receptor activity|transforming growth factor beta binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1)	21						GACATACTTGGATATTGAACC	0.294000													21	111					0	0	0.000878237	0	0
MUC17	140453	broad.mit.edu	37	7	100678878	100678878	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:100678878G>A	ENST00000306151.4	+	3	4245	c.4181G>A	c.(4180-4182)gGa>gAa	p.G1394E		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1394	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)					CCTAGTGAAGGAACCACTCCG	0.512000													25	204					0	0	0.00178596	0	0
OR5H6	79295	broad.mit.edu	37	3	97983751	97983751	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:97983751C>T	ENST00000383696.2	+	1	664	c.623C>T	c.(622-624)tCc>tTc	p.S208F	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)	208					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						TGTACTGATTCCTCTATTAAC	0.299000													7	23					0	0	0.000274275	0	0
MSRA	4482	broad.mit.edu	37	8	10285727	10285727	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:10285727G>A	ENST00000528246.1	+	7	1038	c.415G>A	c.(415-417)Gaa>Aaa	p.E139K	MSRA_ENST00000317173.4_Missense_Mutation_p.E205K|MSRA_ENST00000441698.2_Missense_Mutation_p.E165K|MSRA_ENST00000382490.5_Missense_Mutation_p.E162K	NM_001199729.1	NP_001186658.1	Q9UJ68	MSRA_HUMAN	methionine sulfoxide reductase A	205					methionine metabolic process|protein modification process|response to oxidative stress	mitochondrion|nucleus	peptide-methionine-(S)-S-oxide reductase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(4)	8		Myeloproliferative disorder(644;0.178)			L-Methionine(DB00134)	CTACTATGCGGAAGACTACCA	0.557000													25	8					0	0	0.00106085	0	0
CPT2	1376	broad.mit.edu	37	1	53679099	53679099	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:53679099C>T	ENST00000371486.3	+	5	2324	c.1809C>T	c.(1807-1809)gcC>gcT	p.A603A	RP5-1024G6.2_ENST00000452466.1_RNA	NM_000098.2	NP_000089.1	P23786	CPT2_HUMAN	carnitine palmitoyltransferase 2	603					carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	mitochondrial inner membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	15					L-Carnitine(DB00583)|Perhexiline(DB01074)	GGGGCTTTGCCCCTGTGGTCT	0.562000													11	45					0	0	0.00244969	0	0
FAM135B	51059	broad.mit.edu	37	8	139158294	139158294	+	Splice_Site	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:139158294C>T	ENST00000395297.1	-	15	3619		c.e15-1			NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B											NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GCACTGTTCCCTAAAAATGAC	0.453000										HNSCC(54;0.14)			12	61					0	0	0.00185496	0	0
MTOR	2475	broad.mit.edu	37	1	11319449	11319449	+	Silent	SNP	A	A	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:11319449A>C	ENST00000361445.4	-	2	94	c.18T>G	c.(16-18)ccT>ccG	p.P6P		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	6					cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						TGGCGGCGGCAGGTCCGGTTC	0.502000													29	144					0	0	0.00178596	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43858401	43858401	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:43858401G>A	ENST00000389420.3	-	10	1501	c.1502C>T	c.(1501-1503)cCc>cTc	p.P501L	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.P501L	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	501	Disintegrin.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TACTATATGGGGACACATTTG	0.338000													20	79					0	0	0.00229938	0	0
SLC41A3	54946	broad.mit.edu	37	3	125775365	125775365	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:125775365A>C	ENST00000383598.2	-	1	316	c.31T>G	c.(31-33)Tgc>Ggc	p.C11G	SLC41A3_ENST00000346785.5_Intron|SLC41A3_ENST00000360370.4_Intron|SLC41A3_ENST00000315891.6_Intron|SLC41A3_ENST00000508835.1_Intron|SLC41A3_ENST00000514023.1_Intron	NM_001008487.1	NP_001008487.1	Q96GZ6	S41A3_HUMAN	solute carrier family 41, member 3	0						integral to membrane|plasma membrane	cation transmembrane transporter activity			breast(1)|endometrium(4)|large_intestine(6)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18				GBM - Glioblastoma multiforme(114;0.167)		CCCTGAAAGCAAAACTCCAGA	0.577000													3	16					0	0	0.00116845	0	0
ZNF180	7733	broad.mit.edu	37	19	44980699	44980699	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:44980699C>T	ENST00000221327.4	-	5	2280	c.1999G>A	c.(1999-2001)Gga>Aga	p.G667R	ZNF180_ENST00000391956.4_Missense_Mutation_p.G642R|ZNF180_ENST00000592529.1_Missense_Mutation_p.G640R	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	667					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				AAAGCTTTTCCACACTGAATA	0.353000													30	105					0	0	0.00106085	0	0
BRINP2	57795	broad.mit.edu	37	1	177199220	177199220	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:177199220G>A	ENST00000361539.4	+	2	520	c.208G>A	c.(208-210)Gag>Aag	p.E70K		NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		70						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						CCGCGCTCAGGAGTATGCTGA	0.632000													16	45					0	0	0.000958276	0	0
ADAM18	8749	broad.mit.edu	37	8	39535044	39535044	+	Silent	SNP	T	T	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:39535044T>G	ENST00000265707.5	+	15	1665	c.1620T>G	c.(1618-1620)ccT>ccG	p.P540P	ADAM18_ENST00000541111.1_5'UTR|ADAM18_ENST00000379866.1_Silent_p.P516P	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	540	Cys-rich.				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)			AACCATTACCTTGTGAACGGA	0.308000													8	25					0	0	0.00307968	0	0
ZEB1	6935	broad.mit.edu	37	10	31791374	31791374	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:31791374C>T	ENST00000446923.2	+	4	761	c.370C>T	c.(370-372)Cct>Tct	p.P124S	ZEB1_ENST00000542815.3_Missense_Mutation_p.P73S|ZEB1_ENST00000320985.10_Missense_Mutation_p.P140S|ZEB1_ENST00000560721.2_Missense_Mutation_p.P120S|ZEB1_ENST00000361642.5_Missense_Mutation_p.P141S|ZEB1_ENST00000559858.1_3'UTR	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	140					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				TGTCATTTTTCCTGAGGCACC	0.423000													10	52					0	0	0.000978159	0	0
SYNJ1	8867	broad.mit.edu	37	21	34003813	34003813	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr21:34003813G>A	ENST00000382491.3	-	28	4197	c.4073C>T	c.(4072-4074)cCt>cTt	p.P1358L	SYNJ1_ENST00000322229.7_Missense_Mutation_p.P1405L|SYNJ1_ENST00000357345.3_3'UTR|SYNJ1_ENST00000382499.2_3'UTR|SYNJ1_ENST00000433931.2_Missense_Mutation_p.P1444L	NM_001160306.1	NP_001153778.1	O43426	SYNJ1_HUMAN	synaptojanin 1	1405	Pro-rich.						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						GTCACTGAAAGGATTTGTCCT	0.468000													4	16					0	0	0.00024832	0	0
ATP8A1	10396	broad.mit.edu	37	4	42457419	42457419	+	Silent	SNP	A	A	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:42457419A>T	ENST00000381668.5	-	29	2943	c.2712T>A	c.(2710-2712)ccT>ccA	p.P904P	ATP8A1_ENST00000264449.10_Silent_p.P889P	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	904					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	GAGTTAAAGGAGGCATTGCTG	0.393000													9	50					0	0	0.000442599	0	0
SRRT	51593	broad.mit.edu	37	7	100482420	100482420	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:100482420G>A	ENST00000388793.4	+	8	1222	c.1002G>A	c.(1000-1002)aaG>aaA	p.K334K	SRRT_ENST00000432932.1_Silent_p.K334K|SRRT_ENST00000347433.4_Silent_p.K334K|SRRT_ENST00000457580.2_Silent_p.K334K	NM_001128852.1|NM_015908.5	NP_001122324.1|NP_056992.4	Q9BXP5	SRRT_HUMAN	serrate RNA effector molecule homolog (Arabidopsis)	334	Glu-rich.				cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						ATGGGGACAAGGAAGAGAAGA	0.512000													8	71					0	0	0.000274275	0	0
KIAA0907	22889	broad.mit.edu	37	1	155896943	155896943	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:155896943G>A	ENST00000368320.3	-	5	494	c.469C>T	c.(469-471)Cgt>Tgt	p.R157C	KIAA0907_ENST00000368321.3_Missense_Mutation_p.R157C|KIAA0907_ENST00000482337.1_5'UTR|KIAA0907_ENST00000368319.3_Missense_Mutation_p.R157C			Q7Z7F0	K0907_HUMAN	KIAA0907	157										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			TATAATGGACGATCCCTATAA	0.378000													12	57					0	0	0.000566183	0	0
DOCK1	1793	broad.mit.edu	37	10	129224186	129224186	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:129224186G>A	ENST00000280333.6	+	47	4871	c.4762G>A	c.(4762-4764)Gag>Aag	p.E1588K		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1588	DHR-2.				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		CAAAGTCACGGAGGCACTGAG	0.488000													44	74					0	0	0.00361006	0	0
FAM13C	220965	broad.mit.edu	37	10	61011317	61011317	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:61011317C>T	ENST00000435852.2	-	13	1699	c.1652G>A	c.(1651-1653)aGa>aAa	p.R551K	FAM13C_ENST00000373867.3_Intron|FAM13C_ENST00000442566.3_Intron|FAM13C_ENST00000373868.2_Intron|FAM13C_ENST00000277705.6_Intron|FAM13C_ENST00000419214.2_Intron|FAM13C_ENST00000468840.2_Intron			Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	0										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CTTTAAAAATCTCTCTGCCGA	0.368000													19	99					0	0	0.00278032	0	0
FNDC3A	22862	broad.mit.edu	37	13	49705417	49705417	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr13:49705417C>T	ENST00000492622.2	+	5	702	c.397C>T	c.(397-399)Cca>Tca	p.P133S	FNDC3A_ENST00000541916.1_Missense_Mutation_p.P133S|FNDC3A_ENST00000398316.3_Missense_Mutation_p.P77S	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	133	Pro-rich.					Golgi membrane|integral to membrane				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		GCCGCCTCCACCACGTCATAT	0.502000													11	49					0	0	0.000978159	0	0
MTUS1	57509	broad.mit.edu	37	8	17511000	17511000	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:17511000C>T	ENST00000381869.3	-	10	3533	c.3060G>A	c.(3058-3060)aaG>aaA	p.K1020K	MTUS1_ENST00000297488.6_Silent_p.K240K|MTUS1_ENST00000262102.6_Silent_p.K1074K|MTUS1_ENST00000519263.1_Silent_p.K1020K|MTUS1_ENST00000518713.1_5'UTR|MTUS1_ENST00000381861.3_Silent_p.K321K|MTUS1_ENST00000400046.1_Silent_p.K146K|MTUS1_ENST00000544260.1_Silent_p.K219K	NM_001001925.2	NP_001001925.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	1074						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		CATGGCCTTTCTTAATTTCTG	0.368000													9	43					0	0	0.000673444	0	0
ACSM2A	123876	broad.mit.edu	37	16	20486756	20486756	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:20486756C>T	ENST00000573854.1	+	7	1081	c.967C>T	c.(967-969)Ctt>Ttt	p.L323F	ACSM2A_ENST00000417235.2_Missense_Mutation_p.L244F|ACSM2A_ENST00000536134.1_Missense_Mutation_p.L95F|ACSM2A_ENST00000575690.1_Missense_Mutation_p.L323F|ACSM2A_ENST00000396104.2_Missense_Mutation_p.L323F|ACSM2A_ENST00000219054.6_Missense_Mutation_p.L323F|ACSM2A_ENST00000575558.1_3'UTR	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	323					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						ACAGCAGGATCTTTCCAGGTG	0.498000													9	34					0	0	0.000673444	0	0
ATP6V1G3	127124	broad.mit.edu	37	1	198509744	198509744	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:198509744G>A	ENST00000309309.7	-	2	142	c.37C>T	c.(37-39)Cag>Tag	p.Q13*	ATP6V1G3_ENST00000367381.1_Nonsense_Mutation_p.Q13*|ATP6V1G3_ENST00000367382.1_Nonsense_Mutation_p.Q13*|ATP6V1G3_ENST00000281087.2_Nonsense_Mutation_p.Q13*|ATP6V1G3_ENST00000489986.1_Nonsense_Mutation_p.Q13*	NM_133326.1	NP_579872.1	Q96LB4	VATG3_HUMAN	ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G3	13					cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase complex	ATPase binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)	7						TTTTCTGCCTGAAGAAGCTGG	0.478000													29	72					0	0	0.00428921	0	0
SYNJ2	8871	broad.mit.edu	37	6	158514098	158514098	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:158514098C>T	ENST00000355585.4	+	26	3781	c.3706C>T	c.(3706-3708)Cct>Tct	p.P1236S	SYNJ2_ENST00000367122.2_Missense_Mutation_p.P1191S|SYNJ2_ENST00000367121.3_Missense_Mutation_p.P1236S|SYNJ2_ENST00000367112.1_Missense_Mutation_p.P321S	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	1236	Pro-rich.						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		ACCCAGAGTTCCTGCCATCAA	0.552000													5	16					0	0	0.000602214	0	0
ZSWIM5	57643	broad.mit.edu	37	1	45516811	45516811	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:45516811C>T	ENST00000359600.5	-	5	1572	c.1367G>A	c.(1366-1368)gGa>gAa	p.G456E		NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	456							zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					TCCATAGTTTCCATCCTCCAG	0.517000													16	24					0	0	0.00400662	0	0
FHOD3	80206	broad.mit.edu	37	18	34335185	34335185	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:34335185C>T	ENST00000257209.4	+	22	3933	c.3811C>T	c.(3811-3813)Cgc>Tgc	p.R1271C	FHOD3_ENST00000445677.1_Missense_Mutation_p.R1233C|FHOD3_ENST00000592128.1_Missense_Mutation_p.R250C|FHOD3_ENST00000591635.1_Missense_Mutation_p.R467C|FHOD3_ENST00000590592.1_Missense_Mutation_p.R1446C|FHOD3_ENST00000359247.4_Missense_Mutation_p.R1254C	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	1254	FH2.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				ACTAGAGTATCGCACAACCAG	0.433000													9	26					0	0	0.000274275	0	0
AL132709.8	0	broad.mit.edu	37	14	101429389	101429389	+	RNA	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:101429389C>T	ENST00000423708.3	+	0	736																											GATGTCAAATCCTGAACTAGT	0.333000													9	22					0	0	0.000978159	0	0
SNAPC4	6621	broad.mit.edu	37	9	139275291	139275291	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:139275291G>A	ENST00000298532.2	-	19	2768	c.2400C>T	c.(2398-2400)atC>atT	p.I800I		NM_003086.2	NP_003077.2	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex, polypeptide 4, 190kDa	800					snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		CGGCAGTATCGATGTGGAACA	0.637000													6	26					0	0	0.00307968	0	0
TPH2	121278	broad.mit.edu	37	12	72338093	72338093	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:72338093T>C	ENST00000333850.3	+	3	416	c.275T>C	c.(274-276)gTt>gCt	p.V92A	TPH2_ENST00000546576.1_3'UTR	NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	92	ACT.				aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	GTCAACATGGTTCATATTGAA	0.408000													10	21					0	0	0.000978159	0	0
CSMD1	64478	broad.mit.edu	37	8	2886843	2886843	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:2886843C>T	ENST00000602557.1	-	52	8411	c.7856G>A	c.(7855-7857)cGa>cAa	p.R2619Q	CSMD1_ENST00000537824.1_Missense_Mutation_p.R2618Q|CSMD1_ENST00000542608.1_Missense_Mutation_p.R2618Q|CSMD1_ENST00000400186.3_Missense_Mutation_p.R2619Q|CSMD1_ENST00000520002.1_Missense_Mutation_p.R2619Q|CSMD1_ENST00000602723.1_Missense_Mutation_p.R2619Q			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2619	Sushi 16.					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)		TCACTTACCTCGACAGCTTGG	0.522000													5	23					0	0	0.00116845	0	0
NLRP3	114548	broad.mit.edu	37	1	247597441	247597441	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:247597441C>T	ENST00000366497.2	+	6	3144	c.2364C>T	c.(2362-2364)ttC>ttT	p.F788F	NLRP3_ENST00000336119.3_Silent_p.F788F|NLRP3_ENST00000391827.2_Silent_p.F731F|NLRP3_ENST00000366496.2_Silent_p.F788F|NLRP3_ENST00000391828.3_Silent_p.F788F|NLRP3_ENST00000348069.2_Silent_p.F731F	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	845					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			AGTGCTGCTTCGACATCTCCT	0.562000													17	75					0	0	0.00074312	0	0
CWH43	80157	broad.mit.edu	37	4	49063860	49063860	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:49063860G>A	ENST00000226432.4	+	16	2236	c.2053G>A	c.(2053-2055)Gaa>Aaa	p.E685K	CWH43_ENST00000513409.1_Missense_Mutation_p.E658K	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	685					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						ACACAATTATGAAAACAACCA	0.259000													15	51					0	0	0.00121646	0	0
USP29	57663	broad.mit.edu	37	19	57642776	57642776	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:57642776G>A	ENST00000254181.4	+	4	3187	c.2733G>A	c.(2731-2733)ggG>ggA	p.G911G	USP29_ENST00000598197.1_Silent_p.G911G	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	911					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TCCCTCAGGGGGAATACGAAG	0.468000													5	77					0	0	0.00198382	0	0
PPP1R9B	84687	broad.mit.edu	37	17	48221007	48221007	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:48221007G>A	ENST00000316878.6	-	5	1577	c.1575C>T	c.(1573-1575)ttC>ttT	p.F525F	AC002401.1_ENST00000451776.1_RNA|PPP1R9B_ENST00000501501.2_5'UTR	NM_032595.3	NP_115984.3	Q96SB3	NEB2_HUMAN	protein phosphatase 1, regulatory subunit 9B	525	PDZ.				cell cycle arrest|cell differentiation|cell migration|filopodium assembly|negative regulation of cell growth|nervous system development|regulation of cell growth by extracellular stimulus|regulation of cell proliferation|regulation of exit from mitosis|RNA splicing	adherens junction|cytoskeleton|dendritic spine|filopodium|lamellipodium|nucleoplasm|protein phosphatase type 1 complex|ruffle membrane|synapse	actin binding|protein phosphatase 1 binding|protein phosphatase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8						CGGTCTTGACGAAGATACCCA	0.627000													7	30					0	0	0.00307968	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54872646	54872646	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:54872646G>A	ENST00000474759.1	+	16	1570	c.1522G>A	c.(1522-1524)Gaa>Aaa	p.E508K	CACNA2D3_ENST00000490478.1_Missense_Mutation_p.E414K|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.E508K|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.E508K	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	508	Cache.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	p.E508*(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		CCCAGTGAAAGAACTTCTGAA	0.408000													20	72					0	0	0.00395357	0	0
TRIML2	205860	broad.mit.edu	37	4	189026058	189026058	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:189026058G>A	ENST00000512729.1	-	2	442	c.68C>T	c.(67-69)tCg>tTg	p.S23L	TRIML2_ENST00000536972.1_Missense_Mutation_p.S73L|TRIML2_ENST00000326754.3_Missense_Mutation_p.S23L	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	23							ligase activity			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		TTTCTCCCTCGATGTGTTCAA	0.408000													28	79					0	0	0.00178596	0	0
SF1	7536	broad.mit.edu	37	11	64535187	64535187	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:64535187G>A	ENST00000377390.3	-	10	1535	c.1198C>T	c.(1198-1200)Cca>Tca	p.P400S	SF1_ENST00000422298.2_Missense_Mutation_p.P285S|SF1_ENST00000334944.5_Missense_Mutation_p.P400S|SF1_ENST00000227503.9_Missense_Mutation_p.P400S|SF1_ENST00000433274.2_Missense_Mutation_p.P374S|SF1_ENST00000377394.3_Missense_Mutation_p.P400S|SF1_ENST00000377387.1_Missense_Mutation_p.P525S	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1	400	Pro-rich.				nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						CTGGGTAATGGGTGTGGGAAG	0.632000											OREG0004010|OREG0021062	type=REGULATORY REGION|Gene=LOC476031|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay|type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	17					0	0	0.00198382	0	0
GPR116	221395	broad.mit.edu	37	6	46826049	46826049	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:46826049G>A	ENST00000283296.7	-	17	3879	c.3591C>T	c.(3589-3591)atC>atT	p.I1197I	GPR116_ENST00000545669.1_Silent_p.I626I|GPR116_ENST00000456426.2_Silent_p.I1055I|GPR116_ENST00000362015.4_Silent_p.I1197I|GPR116_ENST00000265417.7_Silent_p.I1197I	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	1197					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			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)			AAGGCCTCAGGATCTTGGTGA	0.532000													9	84					0	0	0.000978159	0	0
NF1	4763	broad.mit.edu	37	17	29546050	29546050	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:29546050C>T	ENST00000358273.4	+	14	1938	c.1555C>T	c.(1555-1557)Caa>Taa	p.Q519*	NF1_ENST00000356175.3_Nonsense_Mutation_p.Q519*|NF1_ENST00000431387.4_Nonsense_Mutation_p.Q519*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	519					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(5)|p.N510_E547del(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GCCCGAAACCCAAGGCAGTAC	0.423000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			4	14					0	0	0.00024832	0	0
GABRA6	2559	broad.mit.edu	37	5	161116108	161116108	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:161116108C>T	ENST00000523217.1	+	4	591	c.349C>T	c.(349-351)Cac>Tac	p.H117Y	GABRA6_ENST00000274545.5_Missense_Mutation_p.H127Y|RP11-348M17.2_ENST00000521984.1_RNA	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	127					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)	GTCCATTGCTCACAACATGAC	0.403000										TCGA Ovarian(5;0.080)			9	29					0	0	0.000442599	0	0
UGT2B15	7366	broad.mit.edu	37	4	69512849	69512849	+	Silent	SNP	T	T	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:69512849T>C	ENST00000338206.5	-	6	1575	c.1566A>G	c.(1564-1566)aaA>aaG	p.K522K		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	522					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										TCTTTCCTTTTTTGGCAAGCT	0.393000													20	92					0	0	0.00106085	0	0
ATP8B1	5205	broad.mit.edu	37	18	55328481	55328481	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:55328481C>T	ENST00000536015.1	-	22	2751	c.2632G>A	c.(2632-2634)Gac>Aac	p.D878N	RP11-35G9.3_ENST00000599199.1_RNA|RP11-35G9.5_ENST00000588925.1_RNA|RP11-35G9.3_ENST00000592201.1_RNA|ATP8B1_ENST00000283684.4_Missense_Mutation_p.D878N|RP11-35G9.3_ENST00000591854.1_RNA	NM_005603.4	NP_005594.1	O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	878					ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				TTCACCAGGTCCACCACCATG	0.567000													6	32					0	0	0.00198382	0	0
CPB1	1360	broad.mit.edu	37	3	148558567	148558567	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:148558567G>A	ENST00000491148.1	+	5	701	c.367G>A	c.(367-369)Gaa>Aaa	p.E123K	CPB1_ENST00000282957.4_Missense_Mutation_p.E123K			P15086	CBPB1_HUMAN	carboxypeptidase B1 (tissue)	123					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			CAACAAGTGGGAAACGGTATG	0.423000													23	47					0	0	0.00127121	0	0
TENM1	10178	broad.mit.edu	37	X	123779113	123779113	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:123779113C>T	ENST00000422452.2	-	10	1819	c.1756G>A	c.(1756-1758)Ggg>Agg	p.G586R	TENM1_ENST00000371130.3_Missense_Mutation_p.G586R	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		CACTCTGGCCCCTTCCAGCCA	0.522000													18	85					0	0	0.00229938	0	0
PTPN14	5784	broad.mit.edu	37	1	214567116	214567116	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:214567116T>C	ENST00000366956.5	-	10	1045	c.851A>G	c.(850-852)gAt>gGt	p.D284G	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	284	FERM.				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		ATTTTCGATATCATCCTTGGA	0.348000													17	79					0	0	0.000958276	0	0
OCRL	4952	broad.mit.edu	37	X	128723830	128723830	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:128723830C>T	ENST00000371113.4	+	23	2643	c.2478C>T	c.(2476-2478)tcC>tcT	p.S826S	OCRL_ENST00000357121.5_Silent_p.S818S	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	826	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						AGGTGATCTCCCAGCTTCCGA	0.398000													8	34					0	0	0.000442599	0	0
NOV	4856	broad.mit.edu	37	8	120435357	120435357	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:120435357C>T	ENST00000259526.3	+	5	1286	c.1059C>T	c.(1057-1059)acC>acT	p.T353T	RP11-775B15.2_ENST00000519786.1_RNA	NM_002514.3	NP_002505.1	P48745	NOV_HUMAN	nephroblastoma overexpressed	353					regulation of cell growth		growth factor activity|insulin-like growth factor binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(3)	21	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000507)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TGAAGACTACCAGAGGGAAAA	0.488000													30	81					0	0	0.0024448	0	0
C7	730	broad.mit.edu	37	5	40947796	40947796	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:40947796G>A	ENST00000313164.9	+	8	1190	c.831G>A	c.(829-831)tgG>tgA	p.W277*		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	277	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				AGCCATTCTGGAAGGAGCTTT	0.453000													12	20					0	0	0.00244969	0	0
DDX11	1663	broad.mit.edu	37	12	31244760	31244760	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:31244760C>T	ENST00000407793.2	+	10	1448	c.1197C>T	c.(1195-1197)atC>atT	p.I399I	DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000350437.4_Silent_p.I399I|DDX11_ENST00000542838.1_Silent_p.I399I|DDX11_ENST00000545668.1_Silent_p.I399I|DDX11_ENST00000228264.6_Silent_p.I373I	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	399	Helicase ATP-binding.				G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					ACAACCTGATCGACACCATCA	0.667000										Multiple Myeloma(12;0.14)			7	39					0	0	0.00307968	0	0
MYH8	4626	broad.mit.edu	37	17	10304276	10304276	+	Splice_Site	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:10304276C>T	ENST00000403437.2	-	26	3349	c.3254_splice	c.e26-1	p.K1085_splice	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1085					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CAAATTCTTTCCTTTAGACAG	0.333000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				19	37					0	0	0.00074312	0	0
NUB1	51667	broad.mit.edu	37	7	151046258	151046258	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:151046258G>A	ENST00000568733.1	+	3	355	c.289G>A	c.(289-291)Gga>Aga	p.G97R	NUB1_ENST00000566856.1_Missense_Mutation_p.G73R|NUB1_ENST00000355851.4_Missense_Mutation_p.G73R|NUB1_ENST00000413040.2_Missense_Mutation_p.G97R			Q9Y5A7	NUB1_HUMAN	negative regulator of ubiquitin-like proteins 1	73					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	nucleus	protein binding			endometrium(1)|large_intestine(7)|lung(3)	11			OV - Ovarian serous cystadenocarcinoma(82;0.00569)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		GCGTGGAACAGGAAATGACAA	0.383000													27	223					0	0	0.00106085	0	0
DNAH7	56171	broad.mit.edu	37	2	196922841	196922841	+	Splice_Site	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:196922841C>T	ENST00000312428.6	-	2	116		c.e2-1		DNAH7_ENST00000410072.1_Splice_Site	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7						ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CCGATTTATCCTGTATGAAAA	0.318000													20	89					0	0	0.00229938	0	0
RPLP0P6	220717	broad.mit.edu	37	2	38709244	38709244	+	RNA	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:38709244G>A	ENST00000417039.1	-	0	696																											ATATCTGGGGGAATGTGGGCT	0.572000													11	15					0	0	0.00185496	0	0
RIMS2	9699	broad.mit.edu	37	8	105261011	105261011	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:105261011G>A	ENST00000507740.1	+	19	3237	c.3001G>A	c.(3001-3003)Gga>Aga	p.G1001R	RIMS2_ENST00000262231.10_Missense_Mutation_p.G1026R|RIMS2_ENST00000339750.2_Missense_Mutation_p.G123R|RIMS2_ENST00000436393.2_Missense_Mutation_p.G1205R|RIMS2_ENST00000406091.3_Missense_Mutation_p.G1187R	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1249					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TCAGCTAGTGGGACGCCAGAC	0.428000										HNSCC(12;0.0054)			14	47					0	0	0.00400662	0	0
TRIM60	166655	broad.mit.edu	37	4	165961962	165961962	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:165961962G>A	ENST00000512596.1	+	3	954	c.738G>A	c.(736-738)ctG>ctA	p.L246L	TRIM60_ENST00000341062.5_Silent_p.L246L|TRIM60_ENST00000508504.1_Silent_p.L246L	NM_152620.2	NP_689833.1	Q495X7	TRI60_HUMAN	tripartite motif containing 60	246						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		AGTCAAACCTGGAATTACTGA	0.363000													11	30					0	0	0.000978159	0	0
PLCB4	5332	broad.mit.edu	37	20	9449315	9449315	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:9449315G>A	ENST00000378501.2	+	32	3325	c.3310G>A	c.(3310-3312)Gaa>Aaa	p.E1104K	PLCB4_ENST00000278655.4_Missense_Mutation_p.E1104K|PLCB4_ENST00000334005.3_Missense_Mutation_p.E1104K|PLCB4_ENST00000378473.3_Missense_Mutation_p.E1116K|PLCB4_ENST00000414679.2_Missense_Mutation_p.E1116K|PLCB4_ENST00000378493.1_Missense_Mutation_p.E1104K|PLCB4_ENST00000492632.1_3'UTR	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	1104					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						AGCAGAACGGGAAAGGTAAGT	0.418000													11	52					0	0	0.000978159	0	0
OR5AC2	81050	broad.mit.edu	37	3	97806295	97806295	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:97806295G>A	ENST00000358642.2	+	1	279	c.279G>A	c.(277-279)atG>atA	p.M93I		NM_054106.1	NP_473447.1	Q9NZP5	O5AC2_HUMAN	olfactory receptor, family 5, subfamily AC, member 2	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						AGACTGCAATGATATCCCTAG	0.438000													23	73					0	0	0.00229938	0	0
LANCL1	10314	broad.mit.edu	37	2	211302518	211302518	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:211302518G>A	ENST00000443314.1	-	6	1111	c.769C>T	c.(769-771)Cct>Tct	p.P257S	AC007970.1_ENST00000433296.1_RNA|LANCL1_ENST00000431941.2_Missense_Mutation_p.P257S|LANCL1_ENST00000233714.4_Missense_Mutation_p.P257S|LANCL1_ENST00000450366.2_Missense_Mutation_p.P257S|LANCL1_ENST00000441020.3_Missense_Mutation_p.P257S|AC007970.1_ENST00000420418.1_RNA			O43813	LANC1_HUMAN	LanC lantibiotic synthetase component C-like 1 (bacterial)	257						cytoplasm|integral to plasma membrane|microtubule cytoskeleton|nucleus	catalytic activity|G-protein coupled receptor activity|glutathione binding|low-density lipoprotein particle receptor binding|SH3 domain binding|zinc ion binding			breast(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1)	12				Epithelial(149;0.00562)|Lung(261;0.0468)|LUSC - Lung squamous cell carcinoma(261;0.0495)|all cancers(144;0.0569)		TTGCCAGAAGGGAATTTCAGC	0.478000													11	30					0	0	0.00136819	0	0
TCTE1	202500	broad.mit.edu	37	6	44250045	44250045	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:44250045G>A	ENST00000371505.4	-	4	1220	c.1098C>T	c.(1096-1098)tcC>tcT	p.S366S	TCTE1_ENST00000371504.1_Intron|TCTE1_ENST00000371503.3_Intron|TMEM151B_ENST00000438774.2_Intron	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	366										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GTAGGTTGAGGGAAATGAGGT	0.612000													46	121					0	0	0.00361006	0	0
C1orf94	84970	broad.mit.edu	37	1	34663106	34663106	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:34663106G>A	ENST00000488417.1	+	2	721	c.601G>A	c.(601-603)Gat>Aat	p.D201N	C1orf94_ENST00000373374.3_Missense_Mutation_p.D11N	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	11							protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				GCAGGACTGTGATTCTGCCAC	0.572000													6	43					0	0	0.000274275	0	0
PRAMEF4	400735	broad.mit.edu	37	1	12942973	12942973	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:12942973T>A	ENST00000235349.5	-	2	313	c.243A>T	c.(241-243)caA>caT	p.Q81H		NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN	PRAME family member 4	81										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CGAGCACAGCTTGGAAGGCCT	0.627000													5	26					0	0	0.000602214	0	0
FSD2	123722	broad.mit.edu	37	15	83447561	83447561	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:83447561G>A	ENST00000334574.8	-	6	1249	c.1068C>T	c.(1066-1068)ttC>ttT	p.F356F	FSD2_ENST00000541889.1_Silent_p.F356F			A1L4K1	FSD2_HUMAN	fibronectin type III and SPRY domain containing 2	356										breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						CCACATCAGAGAAATCCAAGG	0.468000													12	9					0	0	0.000978159	0	0
SEL1L2	80343	broad.mit.edu	37	20	13894461	13894461	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:13894461G>A	ENST00000284951.5	-	5	590	c.516C>T	c.(514-516)tcC>tcT	p.S172S	SEL1L2_ENST00000486903.1_5'UTR|SEL1L2_ENST00000378072.5_Silent_p.S172S			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	172						integral to membrane	binding	p.S172S(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						CTTTAGCCAAGGACTCATATA	0.373000													19	33					0	0	0.00278032	0	0
GALC	2581	broad.mit.edu	37	14	88417021	88417021	+	Silent	SNP	A	A	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:88417021A>G	ENST00000261304.2	-	11	1339	c.1233T>C	c.(1231-1233)ttT>ttC	p.F411F	GALC_ENST00000393568.4_Silent_p.F388F|GALC_ENST00000544807.2_Silent_p.F355F|GALC_ENST00000393569.2_Silent_p.F385F	NM_000153.3|NM_001201401.1	NP_000144.2|NP_001188330.1	P54803	GALC_HUMAN	galactosylceramidase	411					carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CCTTAAGAACAAAGGTGGCAA	0.294000													4	21					0	0	0.000602214	0	0
MIR492	574449	broad.mit.edu	37	12	95228213	95228213	+	RNA	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:95228213G>A	ENST00000385303.1	+	0	40					NR_030171.1																						AGGACCTGCGGGACAAGATTC	0.532000													9	21					0	0	0.000978159	0	0
COL4A4	1286	broad.mit.edu	37	2	227920696	227920696	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:227920696C>T	ENST00000396625.3	-	30	2888	c.2681G>A	c.(2680-2682)gGa>gAa	p.G894E	COL4A4_ENST00000329662.7_Missense_Mutation_p.G894E	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	894	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CCCATCATCTCCAAAGGGACC	0.592000													8	20					0	0	0.000274275	0	0
ABCA4	24	broad.mit.edu	37	1	94543444	94543444	+	Splice_Site	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:94543444C>T	ENST00000370225.3	-	11	1443		c.e11-1		ABCA4_ENST00000535735.1_Splice_Site	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4						phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CCAGGGTATCCTTGGGAAGAA	0.418000													19	47					0	0	0.00121646	0	0
TG	7038	broad.mit.edu	37	8	133978826	133978826	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:133978826C>T	ENST00000220616.4	+	30	5610	c.5570C>T	c.(5569-5571)tCc>tTc	p.S1857F	TG_ENST00000542445.1_Missense_Mutation_p.S227F|TG_ENST00000519543.1_Missense_Mutation_p.S11F|TG_ENST00000377869.1_Missense_Mutation_p.S1800F	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1857					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GAACTTTTCTCCCCTGTGGAC	0.438000													5	64					0	0	0.00116845	0	0
HEATR5B	54497	broad.mit.edu	37	2	37276944	37276944	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:37276944G>A	ENST00000233099.5	-	18	2643	c.2548C>T	c.(2548-2550)Cgt>Tgt	p.R850C	HEATR5B_ENST00000354531.2_Missense_Mutation_p.R850C	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	850							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				GCAGATTTACGAACTTCCTCA	0.398000													8	19					0	0	0.000274275	0	0
DCC	1630	broad.mit.edu	37	18	50936960	50936960	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:50936960G>A	ENST00000442544.2	+	20	3690	c.3074G>A	c.(3073-3075)cGa>cAa	p.R1025Q	DCC_ENST00000412726.1_Missense_Mutation_p.R853Q|DCC_ENST00000581580.1_Missense_Mutation_p.R660Q	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	1025	Fibronectin type-III 6.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		ATTCAAGCACGAAATTCAAAA	0.383000													8	40					0	0	0.000978159	0	0
SEMA6C	10500	broad.mit.edu	37	1	151111940	151111940	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:151111940G>A	ENST00000341697.3	-	6	2006	c.315C>T	c.(313-315)agC>agT	p.S105S				Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	105	Sema.					integral to membrane	receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CCACATCTTGGCTTCTCCATG	0.493000													59	71					0	0	0.00361006	0	0
TRANK1	9881	broad.mit.edu	37	3	36887847	36887847	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:36887847G>A	ENST00000301807.6	-	16	5198	c.3301C>T	c.(3301-3303)Cgg>Tgg	p.R1101W	TRANK1_ENST00000428977.2_Missense_Mutation_p.R1101W|TRANK1_ENST00000463984.1_5'UTR|TRANK1_ENST00000429976.2_Missense_Mutation_p.R1651W	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1651	Glu-rich.				DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						AGGTTGACCCGAGCCCGTGTG	0.443000													6	18					0	0	0.00198382	0	0
ZNF223	7766	broad.mit.edu	37	19	44570825	44570825	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:44570825C>T	ENST00000591793.1	+	7	1257	c.1174C>T	c.(1174-1176)Cac>Tac	p.H392Y	ZNF223_ENST00000434772.3_Missense_Mutation_p.H282Y			Q9UK11	ZN223_HUMAN	zinc finger protein 223	282					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18		Prostate(69;0.0352)				TCAGAGAATTCACACAGGGGA	0.423000													12	68					0	0	0.00136819	0	0
LRRC30	339291	broad.mit.edu	37	18	7231170	7231170	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:7231170G>C	ENST00000383467.2	+	1	48	c.34G>C	c.(34-36)Gat>Cat	p.D12H		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	12										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						CAGCTCCAAGGATAAGGGCCC	0.617000													7	39					0	0	0.000442599	0	0
OR8A1	390275	broad.mit.edu	37	11	124440066	124440066	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:124440066A>C	ENST00000284287.3	+	1	174	c.102A>C	c.(100-102)ttA>ttC	p.L34F		NM_001005194.1	NP_001005194.1	Q8NGG7	OR8A1_HUMAN	olfactory receptor, family 8, subfamily A, member 1	34					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		TCAAGGGTTTAACGAAGAGAG	0.532000													5	24					0	0	0.00116845	0	0
CYP4F11	57834	broad.mit.edu	37	19	16038278	16038278	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:16038278T>C	ENST00000326742.7	-	3	360	c.359A>G	c.(358-360)aAg>aGg	p.K120R	CYP4F11_ENST00000402119.3_Missense_Mutation_p.K120R|CYP4F11_ENST00000248041.7_Missense_Mutation_p.K120R			Q9HBI6	CP4FB_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 11	120					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						AATCATATCCTTGGGTGCGAC	0.542000													14	83					0	0	0.000566183	0	0
PIGS	94005	broad.mit.edu	37	17	26883864	26883864	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:26883864G>A	ENST00000308360.7	-	9	1436	c.1061C>T	c.(1060-1062)cCc>cTc	p.P354L	PIGS_ENST00000395346.2_Missense_Mutation_p.P346L|PIGS_ENST00000543734.1_Missense_Mutation_p.P293L	NM_033198.3	NP_149975.1	Q96S52	PIGS_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class S	354					attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					ACCCCAGCGGGGACTATGGAA	0.542000													12	6					0	0	0.00185496	0	0
OR52B6	340980	broad.mit.edu	37	11	5602595	5602595	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:5602595C>T	ENST00000345043.2	+	1	489	c.489C>T	c.(487-489)atC>atT	p.I163I	AC015691.13_ENST00000394793.2_RNA|HBG2_ENST00000380259.2_Intron	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B, member 6	163					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTGGGAAGATCGTCACTGCCG	0.512000													37	81					0	0	0.00361006	0	0
APOB	338	broad.mit.edu	37	2	21228765	21228765	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:21228765G>A	ENST00000233242.1	-	26	11102	c.10975C>T	c.(10975-10977)Ctt>Ttt	p.L3659F		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	3659					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GCAATGTCAAGGTGTGCCTTT	0.438000													73	126					0	0	0.00361006	0	0
ATP2C2	9914	broad.mit.edu	37	16	84472843	84472843	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:84472843G>A	ENST00000416219.2	+	12	1147	c.1058G>A	c.(1057-1059)cGg>cAg	p.R353Q	ATP2C2_ENST00000262429.4_Missense_Mutation_p.R353Q|ATP2C2_ENST00000420010.2_3'UTR			O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	353					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						GGAGTGCTGCGGATGGCCAAG	0.572000													7	26					0	0	0.00198382	0	0
FBXL18	80028	broad.mit.edu	37	7	5540754	5540754	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:5540754G>A	ENST00000382368.3	-	3	1269	c.1146C>T	c.(1144-1146)tgC>tgT	p.C382C	FBXL18_ENST00000453700.3_Silent_p.C382C	NM_024963.4	NP_079239.3	Q96ME1	FXL18_HUMAN	F-box and leucine-rich repeat protein 18	382									FBXL18/RNF216(2)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		GCAGGTTGCAGCAGGACGCCA	0.697000													5	34					0	0	0.00198382	0	0
METTL2B	55798	broad.mit.edu	37	7	128119262	128119262	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:128119262C>T	ENST00000480046.1	+	2	173	c.58C>T	c.(58-60)Cac>Tac	p.H20Y	METTL2B_ENST00000262432.8_Missense_Mutation_p.H85Y			Q6P1Q9	MTL2B_HUMAN	methyltransferase like 2B	85							methyltransferase activity			breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						CTACAAAATCCACGAAAATGG	0.338000													12	95					0	0	0.00400662	0	0
FIGNL1	63979	broad.mit.edu	37	7	50514458	50514458	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:50514458G>A	ENST00000419119.1	-	2	2081	c.528C>T	c.(526-528)ttC>ttT	p.F176F	FIGNL1_ENST00000433017.1_Silent_p.F176F|FIGNL1_ENST00000356889.4_Silent_p.F176F|FIGNL1_ENST00000395556.2_Silent_p.F176F			Q6PIW4	FIGL1_HUMAN	fidgetin-like 1	176					ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle	cytoplasm|nucleus	ATP binding|magnesium ion binding|nucleoside-triphosphatase activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				TGCTCTCCGGGAAGTCTTGGG	0.468000													33	172					0	0	0.00111076	0	0
IDO1	3620	broad.mit.edu	37	8	39782275	39782275	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:39782275C>T	ENST00000518237.1	+	8	1330	c.691C>T	c.(691-693)Cgc>Tgc	p.R231C	IDO1_ENST00000522495.1_Missense_Mutation_p.R231C|RP11-44K6.3_ENST00000517623.1_RNA	NM_002164.5	NP_002155.1	P14902	I23O1_HUMAN	indoleamine 2,3-dioxygenase 1	231					female pregnancy|tryptophan catabolic process	cytosol	electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity	p.R231C(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12					L-Tryptophan(DB00150)	CAGTGTTCTTCGCATATATTT	0.358000													5	39					0	0	0.00198382	0	0
SOGA3	387104	broad.mit.edu	37	6	127797031	127797031	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:127797031C>T	ENST00000556132.1	-	6	3004	c.2140G>A	c.(2140-2142)Gag>Aag	p.E714K	SOGA3_ENST00000368268.2_Missense_Mutation_p.E714K|SOGA3_ENST00000465909.2_Missense_Mutation_p.E714K|SOGA3_ENST00000481848.2_Missense_Mutation_p.E714K|SOGA3_ENST00000525778.1_Missense_Mutation_p.E714K	NM_001012279.2	NP_001012279.1	Q5TF21	CF174_HUMAN	SOGA family member 3	714						integral to membrane											CCGCTGAGCTCGTTGATCTGC	0.657000													9	32					0	0	0.00136819	0	0
TRBV19	28568	broad.mit.edu	37	7	142326771	142326771	+	RNA	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:142326771C>T	ENST00000390393.3	+	0	277																											ATGGTGGAATCACTCAGTCCC	0.527000													9	40					0	0	0.000978159	0	0
ARC	23237	broad.mit.edu	37	8	143694850	143694850	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:143694850C>T	ENST00000356613.2	-	1	1983	c.783G>A	c.(781-783)gtG>gtA	p.V261V		NM_015193.3	NP_056008.1	Q7LC44	ARC_HUMAN	activity-regulated cytoskeleton-associated protein	261					endocytosis	acrosomal vesicle|cell junction|dendritic spine|endosome|postsynaptic density|postsynaptic membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	13	all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.0279)				CCCAGTTCTTCACGGAGCCCT	0.622000													24	36					0	0	0.00106085	0	0
FAH	2184	broad.mit.edu	37	15	80452764	80452764	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:80452764C>T	ENST00000539156.1	+	3	2355	c.117C>T	c.(115-117)tcC>tcT	p.S39S	FAH_ENST00000558627.1_3'UTR|FAH_ENST00000407106.1_Silent_p.S109S|FAH_ENST00000261755.5_Silent_p.S109S|FAH_ENST00000561421.1_Silent_p.S109S			P16930	FAAA_HUMAN	fumarylacetoacetate hydrolase (fumarylacetoacetase)	109					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	fumarylacetoacetase activity|metal ion binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CATTCATCTCCCAGGCTTCTG	0.572000									Tyrosinemia, type 1				6	54					0	0	0.00307968	0	0
ZNF536	9745	broad.mit.edu	37	19	30935412	30935412	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:30935412C>T	ENST00000355537.3	+	2	1090	c.943C>T	c.(943-945)Ctc>Ttc	p.L315F		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	315					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GGAGGAGGAGCTCATCAGCCA	0.647000													17	61					0	0	0.00121646	0	0
OR2V2	285659	broad.mit.edu	37	5	180582829	180582829	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:180582829G>A	ENST00000328275.1	+	1	887	c.887G>A	c.(886-888)aGg>aAg	p.R296K		NM_206880.1	NP_996763.1	Q96R30	OR2V2_HUMAN	olfactory receptor, family 2, subfamily V, member 2	296					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTGAGGAACAGGGAGGTGATG	0.607000													4	24					0	0	0.000602214	0	0
ACKR3	57007	broad.mit.edu	37	2	237489867	237489867	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:237489867C>T	ENST00000272928.3	+	2	1069	c.759C>T	c.(757-759)atC>atT	p.I253I		NM_020311.2	NP_064707.1			atypical chemokine receptor 3																		GCCGGAAGATCATCTTCTCCT	0.567000													12	35					0	0	0.00136819	0	0
PPP2CB	5516	broad.mit.edu	37	8	30651770	30651770	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:30651770G>A	ENST00000221138.4	-	4	964	c.514C>T	c.(514-516)Cca>Tca	p.P172S	PPP2CB_ENST00000518564.1_Intron	NM_001009552.1	NP_001009552.1	P62714	PP2AB_HUMAN	protein phosphatase 2, catalytic subunit, beta isozyme	172					protein dephosphorylation	chromosome, centromeric region|cytoplasm|nucleus|protein phosphatase type 2A complex|spindle pole	metal ion binding			breast(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	9				KIRC - Kidney renal clear cell carcinoma(542;0.095)|Kidney(114;0.114)	Vitamin E(DB00163)	TCTATGGATGGAGAGAGGCCA	0.348000													11	53					0	0	0.00316338	0	0
C15orf39	56905	broad.mit.edu	37	15	75500482	75500482	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:75500482C>T	ENST00000360639.2	+	2	2413	c.2093C>T	c.(2092-2094)cCc>cTc	p.P698L	C15orf39_ENST00000567617.1_Missense_Mutation_p.P698L|C15orf39_ENST00000394987.4_Missense_Mutation_p.P698L			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	698										autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						GCTCAACAGCCCTTGTCTGTG	0.677000													5	27					0	0	0.00307968	0	0
SV2A	9900	broad.mit.edu	37	1	149882139	149882139	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:149882139G>A	ENST00000369146.3	-	5	1562	c.1072C>T	c.(1072-1074)Ccc>Tcc	p.P358S	SV2A_ENST00000369145.1_Missense_Mutation_p.P358S	NM_014849.3	NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	358					neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	AAGAAACGGGGGCTCTCAGGC	0.617000													3	6					0	0	0.00024832	0	0
AGT	183	broad.mit.edu	37	1	230846251	230846251	+	Missense_Mutation	SNP	G	G	A	rs147355405		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:230846251G>A	ENST00000366667.4	-	2	560	c.346C>T	c.(346-348)Cgt>Tgt	p.R116C		NM_000029.3	NP_000020.1	P01019	ANGT_HUMAN	angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	116					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|G-protein signaling, coupled to cGMP nucleotide second messenger|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation	extracellular space|soluble fraction	acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding			endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641)	CCATATATACGGAAGCCCAAG	0.592000													10	40					0	0	0.000673444	0	0
TTN	7273	broad.mit.edu	37	2	179411777	179411777	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:179411777C>T	ENST00000589042.1	-	340	94699	c.94475G>A	c.(94474-94476)aGc>aAc	p.S31492N	TTN_ENST00000342175.6_Missense_Mutation_p.S22619N|TTN_ENST00000460472.2_Missense_Mutation_p.S22427N|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S28924N|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S29851N|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S22552N|TTN-AS1_ENST00000592750.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	29851	Ig-like 140.						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)			GCTGGCCTTGCTAACACCTGC	0.383000													45	95					0	0	0.00361006	0	0
TMEM132A	54972	broad.mit.edu	37	11	60703676	60703676	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:60703676C>T	ENST00000005286.4	+	11	2525	c.2372C>T	c.(2371-2373)aCc>aTc	p.T791I	TMEM132A_ENST00000453848.2_Missense_Mutation_p.T790I	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN	transmembrane protein 132A	790	Binds to HSPA5/GRP78 (By similarity).|Confers cellular localization similar to full-length form (By similarity).					endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						ACAGAAGCCACCATGGGTGGT	0.677000													10	41					0	0	0.00136819	0	0
PGD	5226	broad.mit.edu	37	1	10460536	10460536	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:10460536C>T	ENST00000538557.1	+	3	376	c.132C>T	c.(130-132)tcC>tcT	p.S44S	PGD_ENST00000541529.1_Silent_p.S57S|PGD_ENST00000270776.8_Silent_p.S57S			P52209	6PGD_HUMAN	phosphogluconate dehydrogenase	57					pentose-phosphate shunt, oxidative branch	cytosol	NADP binding|phosphogluconate dehydrogenase (decarboxylating) activity|protein binding			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	14	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487)		GTGCCCAGTCCCTGAAAGAGA	0.502000													31	41					0	0	0.00209593	0	0
ARMC4	55130	broad.mit.edu	37	10	28273185	28273185	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:28273185C>T	ENST00000305242.5	-	5	702	c.610G>A	c.(610-612)Gat>Aat	p.D204N	ARMC4_ENST00000239715.3_Missense_Mutation_p.D61N	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	204							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						AGTTCTATATCCTTCTTCACC	0.333000													41	107					0	0	0.00361006	0	0
BSN	8927	broad.mit.edu	37	3	49698253	49698253	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:49698253A>G	ENST00000296452.4	+	6	9089	c.8975A>G	c.(8974-8976)aAa>aGa	p.K2992R		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2992					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)		TCTTTGGCCAAAGACCGGGGT	0.582000													7	31					0	0	0.00198382	0	0
THAP11	57215	broad.mit.edu	37	16	67877059	67877059	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:67877059G>A	ENST00000303596.1	+	1	847	c.602G>A	c.(601-603)gGc>gAc	p.G201D	CENPT_ENST00000562787.1_Intron	NM_020457.2	NP_065190.2	Q96EK4	THA11_HUMAN	THAP domain containing 11	201	Ala-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|identical protein binding|metal ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	8		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		GCCGCAGAGGGCGCAGCCGCT	0.667000													13	34					0	0	0.00185496	0	0
POGZ	23126	broad.mit.edu	37	1	151400396	151400396	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:151400396G>A	ENST00000271715.2	-	7	1295	c.981C>T	c.(979-981)atC>atT	p.I327I	POGZ_ENST00000368863.2_Silent_p.I232I|POGZ_ENST00000540984.1_Intron|POGZ_ENST00000361398.3_Silent_p.I274I|POGZ_ENST00000531094.1_Silent_p.I265I|POGZ_ENST00000491586.1_Silent_p.I274I|POGZ_ENST00000409503.1_Silent_p.I318I|POGZ_ENST00000392723.1_Silent_p.I274I	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	327					cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CCAGGGAAGGGATGGTGTTAA	0.517000													5	42					0	0	0.000602214	0	0
CCDC93	54520	broad.mit.edu	37	2	118696639	118696639	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:118696639G>A	ENST00000376300.2	-	20	1708	c.1571C>T	c.(1570-1572)aCc>aTc	p.T524I	CCDC93_ENST00000319432.5_Missense_Mutation_p.T523I	NM_019044.4	NP_061917.3	Q567U6	CCD93_HUMAN	coiled-coil domain containing 93	524										breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						ATCATCCAGGGTATTATATAA	0.358000													11	22					0	0	0.00244969	0	0
C3orf36	80111	broad.mit.edu	37	3	133647515	133647515	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:133647515C>T	ENST00000408895.2	-	1	1141	c.133G>A	c.(133-135)Gcc>Acc	p.A45T		NM_025041.2	NP_079317.2	Q3SXR2	CC036_HUMAN	chromosome 3 open reading frame 36	45										breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	6						GGCTCTAAGGCCATTCCTCCA	0.632000													5	20					0	0	0.00198382	0	0
KIAA1549L	25758	broad.mit.edu	37	11	33628311	33628311	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:33628311C>T	ENST00000321505.4	+	13	4293	c.4113C>T	c.(4111-4113)ccC>ccT	p.P1371P	KIAA1549L_ENST00000389726.3_Silent_p.P1377P					KIAA1549-like																		CAGCCCTCCCCATGGTGCCCC	0.602000													4	6					0	0	0.000602214	0	0
CALB2	794	broad.mit.edu	37	16	71423651	71423651	+	Splice_Site	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:71423651G>A	ENST00000302628.4	+	11	776		c.e11-1		CALB2_ENST00000349553.5_Splice_Site	NM_001740.4	NP_001731.2	P22676	CALB2_HUMAN	calbindin 2								calcium ion binding			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18		Ovarian(137;0.125)				GTATTTCCTAGGAAATGAATA	0.517000													17	62					0	0	0.00074312	0	0
KIF19	124602	broad.mit.edu	37	17	72350305	72350305	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:72350305G>A	ENST00000389916.4	+	18	2451	c.2313G>A	c.(2311-2313)agG>agA	p.R771R		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	771					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						CTGCAGAGAGGAAGGAGATCC	0.657000													14	65					0	0	0.000958276	0	0
HSPB8	26353	broad.mit.edu	37	12	119631582	119631582	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:119631582G>A	ENST00000281938.2	+	3	1181	c.510G>A	c.(508-510)caG>caA	p.Q170Q	HSPB8_ENST00000542496.1_3'UTR	NM_014365.2	NP_055180.1	Q9UJY1	HSPB8_HUMAN	heat shock 22kDa protein 8	170					cell death|response to heat	cytoplasm|nucleus	identical protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	14	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AAGCTCCCCAGGTCCCTCCTT	0.522000													8	38					0	0	0.00307968	0	0
RALB	5899	broad.mit.edu	37	2	121036296	121036296	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:121036296T>A	ENST00000272519.5	+	2	326	c.56T>A	c.(55-57)aTg>aAg	p.M19K	RALB_ENST00000404963.3_Missense_Mutation_p.M19K|RALB_ENST00000420510.1_Missense_Mutation_p.M19K|RALB_ENST00000470417.1_Intron|RALB_ENST00000474855.2_Missense_Mutation_p.M41K	NM_002881.2	NP_002872.1	P11234	RALB_HUMAN	v-ral simian leukemia viral oncogene homolog B	19					apoptosis|cell cycle|cytokinesis|nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of exocyst assembly|regulation of exocyst localization	cytosol|midbody|plasma membrane	GTP binding|GTPase activity|protein binding	p.M19T(1)		endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(154;0.122)				AAGGTGATCATGGTTGGCAGC	0.567000													17	19					0	0	0.00229938	0	0
HHLA2	11148	broad.mit.edu	37	3	108072364	108072364	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:108072364C>T	ENST00000357759.5	+	4	569	c.155C>T	c.(154-156)tCa>tTa	p.S52L	HHLA2_ENST00000489514.2_Missense_Mutation_p.S52L|HHLA2_ENST00000491820.1_Missense_Mutation_p.S52L|HHLA2_ENST00000467562.1_Intron|HHLA2_ENST00000467761.1_Missense_Mutation_p.S52L	NM_007072.2	NP_009003.1	Q9UM44	HHLA2_HUMAN	HERV-H LTR-associating 2	52						integral to membrane				endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						CTCCCTTCTTCATTTGAGAGG	0.383000													4	7					0	0	0.00024832	0	0
TRPC5	7224	broad.mit.edu	37	X	111025181	111025181	+	Silent	SNP	G	G	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:111025181G>T	ENST00000262839.2	-	8	3000	c.2082C>A	c.(2080-2082)cgC>cgA	p.R694R		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	694					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TTCTCAAGTTGCGCCTTCTCC	0.443000													25	53					3.73148e-12	1.09013e-11	0.00127121	1	0
GIT1	28964	broad.mit.edu	37	17	27909803	27909803	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:27909803G>A	ENST00000225394.3	-	4	566	c.318C>T	c.(316-318)ttC>ttT	p.F106F	GIT1_ENST00000581348.1_Silent_p.F106F|GIT1_ENST00000579937.1_Silent_p.F106F|GIT1_ENST00000394869.3_Silent_p.F106F|RP11-68I3.2_ENST00000581474.1_RNA	NM_014030.3	NP_054749.2	Q9Y2X7	GIT1_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 1	106	Arf-GAP.				regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|focal adhesion	ARF GTPase activator activity|protein binding|zinc ion binding			large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)		TGGCCCTGATGAACTCTGACT	0.612000													6	20					0	0	0.00116845	0	0
AOX1	316	broad.mit.edu	37	2	201477495	201477495	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:201477495C>T	ENST00000374700.2	+	14	1668	c.1427C>T	c.(1426-1428)tCc>tTc	p.S476F	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN	aldehyde oxidase 1	476					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)	GCCAAGAATTCCTGCCAGAAA	0.448000													12	23					0	0	0.000566183	0	0
TMEM108	66000	broad.mit.edu	37	3	133098601	133098601	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:133098601C>T	ENST00000515826.1	+	3	169	c.46C>T	c.(46-48)Ctg>Ttg	p.L16L	TMEM108_ENST00000508711.1_Intron|TMEM108_ENST00000393130.3_Silent_p.L16L|TMEM108_ENST00000321871.6_Silent_p.L16L			Q6UXF1	TM108_HUMAN	transmembrane protein 108	16						integral to membrane				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						TCAAGGTTTCCTGCTGATCTT	0.547000													35	164					0	0	0.00195071	0	0
ZNF493	284443	broad.mit.edu	37	19	21605951	21605951	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:21605951C>T	ENST00000392288.2	+	4	599	c.490C>T	c.(490-492)Cat>Tat	p.H164Y	CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000355504.4_Missense_Mutation_p.H36Y	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	36					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						GAAAGTCTTTCATAAACTTTT	0.294000													28	47					0	0	0.000878237	0	0
OPN5	221391	broad.mit.edu	37	6	47754269	47754269	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:47754269G>A	ENST00000489301.2	+	2	234	c.149G>A	c.(148-150)gGa>gAa	p.G50E	OPN5_ENST00000371211.2_Missense_Mutation_p.G50E|OPN5_ENST00000393699.2_Missense_Mutation_p.G50E			Q6U736	OPN5_HUMAN	opsin 5	50					phototransduction|protein-chromophore linkage|visual perception	integral to membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						TCCACATTTGGAAATGGATAT	0.358000													9	102					0	0	0.000274275	0	0
PABPC1	26986	broad.mit.edu	37	8	101721719	101721719	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:101721719G>A	ENST00000318607.5	-	8	2341	c.1213C>T	c.(1213-1215)Cct>Tct	p.P405S	PABPC1_ENST00000522387.1_Missense_Mutation_p.P373S|PABPC1_ENST00000519596.1_5'UTR|PABPC1_ENST00000519004.1_Missense_Mutation_p.P360S	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	405					mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation	catalytic step 2 spliceosome|cytosol	nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			TAACCTGAAGGAGGTGCTGGC	0.478000													16	91					0	0	0.00074312	0	0
HYDIN	54768	broad.mit.edu	37	16	70841530	70841530	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:70841530C>T	ENST00000393567.2	-	86	15469	c.15319G>A	c.(15319-15321)Gag>Aag	p.E5107K		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	5107										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)				ACTCCAGTCTCACTCCCTTCA	0.478000													9	42					0	0	0.00136819	0	0
ADTRP	84830	broad.mit.edu	37	6	11778913	11778913	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:11778913T>A	ENST00000414691.3	-	1	490	c.80A>T	c.(79-81)gAa>gTa	p.E27V	ADTRP_ENST00000229583.5_Missense_Mutation_p.E27V|ADTRP_ENST00000379413.2_Missense_Mutation_p.E27V	NM_032744.3	NP_116133.1	Q96IZ2	CF105_HUMAN	androgen-dependent TFPI-regulating protein	27						integral to membrane											GTCTTTTCCTTCCTGTGAGAT	0.453000													22	183					0	0	0.00188189	0	0
TNFRSF11B	4982	broad.mit.edu	37	8	119936639	119936639	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:119936639G>A	ENST00000297350.4	-	5	1558	c.1180C>T	c.(1180-1182)Caa>Taa	p.Q394*		NM_002546.3	NP_002537.3	O00300	TR11B_HUMAN	tumor necrosis factor receptor superfamily, member 11b	394					apoptosis|skeletal system development		cytokine activity|receptor activity			breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			TTTACTGATTGGACCTGGTTA	0.393000													21	141					0	0	0.00278032	0	0
ZNF821	55565	broad.mit.edu	37	16	71898043	71898043	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:71898043G>T	ENST00000425432.1	-	6	794	c.415C>A	c.(415-417)Cag>Aag	p.Q139K	ZNF821_ENST00000446827.2_Missense_Mutation_p.Q97K|ZNF821_ENST00000564134.1_Missense_Mutation_p.Q138K|ZNF821_ENST00000565601.1_Missense_Mutation_p.Q139K|RP11-498D10.4_ENST00000569119.1_Intron|ZNF821_ENST00000564943.1_5'UTR|RP11-498D10.4_ENST00000568581.1_Intron|ZNF821_ENST00000313565.6_Missense_Mutation_p.Q97K	NM_001201552.1	NP_001188481.1	O75541	ZN821_HUMAN	zinc finger protein 821	139					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(2)	13						ATCCATACCTGGTACACGTGA	0.557000													5	49					0.000602214	0.00174187	0.000602214	1	0
PTCHD4	442213	broad.mit.edu	37	6	47846657	47846657	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:47846657G>A	ENST00000339488.4	-	3	1956	c.1923C>T	c.(1921-1923)atC>atT	p.I641I		NM_001013732.3	NP_001013754.3	Q6ZW05	CF138_HUMAN	patched domain containing 4	641						integral to membrane	hedgehog receptor activity	p.I641I(1)									GGTTGAACACGATGAATCGGA	0.483000													8	81					0	0	0.000274275	0	0
IQGAP2	10788	broad.mit.edu	37	5	75936908	75936908	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:75936908G>A	ENST00000274364.6	+	17	2371	c.2074G>A	c.(2074-2076)Gag>Aag	p.E692K	IQGAP2_ENST00000379730.3_Intron|IQGAP2_ENST00000502745.1_Intron|IQGAP2_ENST00000396234.3_Intron	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	692	IQ 1.				small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		TGAACAAGAAGAGAATGTGGT	0.383000													4	18					0	0	0.000602214	0	0
RPTN	126638	broad.mit.edu	37	1	152127692	152127692	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:152127692C>T	ENST00000316073.3	-	3	1947	c.1883G>A	c.(1882-1884)gGg>gAg	p.G628E		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	628	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						GTTTTGGTACCCTTCCTGTCC	0.488000													15	62					0	0	0.00400662	0	0
UGT1A5	54579	broad.mit.edu	37	2	234622121	234622121	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:234622121G>T	ENST00000373414.3	+	1	484	c.484G>T	c.(484-486)Gct>Tct	p.A162S	UGT1A6_ENST00000305139.6_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000480628.1_Intron	NM_019078.1	NP_061951.1														cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645)		GGCGGTGCTGGCTAAGTACCT	0.493000													22	102					4.16121e-05	0.000120674	0.00278032	1	0
ENPP6	133121	broad.mit.edu	37	4	185012430	185012430	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:185012430G>A	ENST00000296741.2	-	8	1364	c.1223C>T	c.(1222-1224)tCc>tTc	p.S408F		NM_153343.3	NP_699174.1	Q6UWR7	ENPP6_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 6	408					lipid catabolic process	extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		CATCACCCTGGACCAGGATCC	0.582000													7	64					0	0	0.00198382	0	0
MRPS24	64951	broad.mit.edu	37	7	43906466	43906466	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:43906466G>A	ENST00000317534.5	-	4	397	c.336C>T	c.(334-336)cgC>cgT	p.R112R	MRPS24_ENST00000467084.1_5'UTR|RP5-1165K10.1_ENST00000603700.1_3'UTR	NM_032014.2	NP_114403.1	Q96EL2	RT24_HUMAN	mitochondrial ribosomal protein S24	112					translation	mitochondrial large ribosomal subunit|mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	5						GGTTACCCCGGCGCTTTAAAA	0.552000													9	44					0	0	0.000274275	0	0
RFC5	5985	broad.mit.edu	37	12	118462717	118462717	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:118462717C>T	ENST00000392542.2	+	7	953	c.420C>T	c.(418-420)atC>atT	p.I140I	RFC5_ENST00000229043.3_Silent_p.I76I|RFC5_ENST00000454402.2_Silent_p.I161I	NM_181578.3	NP_853556.2	P40937	RFC5_HUMAN	replication factor C (activator 1) 5, 36.5kDa	161					cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme binding			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(3)	9	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGTCAAAGATCATCCCTGCCT	0.463000													9	40					0	0	0.000274275	0	0
IL7	3574	broad.mit.edu	37	8	79650870	79650870	+	Splice_Site	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:79650870C>T	ENST00000263851.4	-	4	829	c.228_splice	c.e4-1	p.E77_splice	IL7_ENST00000541183.1_Intron|IL7_ENST00000520269.1_Intron|IL7_ENST00000519833.1_5'UTR	NM_000880.3|NM_001199886.1|NM_001199887.1	NP_000871.1|NP_001186815.1|NP_001186816.1	P13232	IL7_HUMAN	interleukin 7	77					bone resorption|cell-cell signaling|humoral immune response|organ morphogenesis|positive regulation of B cell proliferation|positive regulation of T cell differentiation	extracellular space	cytokine activity|growth factor activity|interleukin-7 receptor binding			endometrium(2)|large_intestine(2)|lung(1)	5						AACATACCTTCCTATTATAGG	0.353000													11	80					0	0	0.00136819	0	0
FEZF2	55079	broad.mit.edu	37	3	62356014	62356014	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:62356014T>C	ENST00000283268.3	-	5	1418	c.1124A>G	c.(1123-1125)aAc>aGc	p.N375S	FEZF2_ENST00000486811.1_Missense_Mutation_p.N375S|FEZF2_ENST00000475839.1_Missense_Mutation_p.N375S	NM_018008.3	NP_060478.3	Q8TBJ5	FEZF2_HUMAN	FEZ family zinc finger 2	375					transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|lung(8)|skin(1)	20		Lung SC(41;0.0262)		BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957)		GTTCTTGTAGTTCCCTACAAC	0.532000													25	43					0	0	0.00106085	0	0
HTR3C	170572	broad.mit.edu	37	3	183778126	183778126	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:183778126C>G	ENST00000318351.1	+	9	1364	c.1330C>G	c.(1330-1332)Ctc>Gtc	p.L444V		NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine (serotonin) receptor 3C, ionotropic	444						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	p.L444I(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			TGTCATTGTCCTCTGGAACAC	0.552000													15	54					0	0	0.00244969	0	0
TET2	54790	broad.mit.edu	37	4	106158123	106158123	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:106158123G>A	ENST00000540549.1	+	3	3884	c.3024G>A	c.(3022-3024)aaG>aaA	p.K1008K	TET2_ENST00000394764.1_Silent_p.K1008K|TET2_ENST00000305737.2_Silent_p.K1008K|TET2_ENST00000413648.2_Silent_p.K1008K|TET2_ENST00000513237.1_Silent_p.K1029K|TET2_ENST00000545826.1_Silent_p.K1008K|TET2_ENST00000380013.4_Silent_p.K1008K			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	1008					cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		AGGTAACTAAGCAAGAGAATC	0.463000			"""Mis N, F"""		MDS								5	16					0	0	0.000602214	0	0
IL2	3558	broad.mit.edu	37	4	123377467	123377467	+	Missense_Mutation	SNP	C	C	T	rs146566026	byFrequency	TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:123377467C>T	ENST00000226730.4	-	1	413	c.129G>A	c.(127-129)atG>atA	p.M43I		NM_000586.3	NP_000577.2	P60568	IL2_HUMAN	interleukin 2	43					anti-apoptosis|cell adhesion|cell-cell signaling|immune response|natural killer cell activation|negative regulation of B cell apoptosis|positive regulation of activated T cell proliferation|positive regulation of B cell proliferation|positive regulation of cell growth|positive regulation of interleukin-17 production|positive regulation of tyrosine phosphorylation of Stat5 protein|T cell differentiation	extracellular space	cytokine activity|growth factor activity|interleukin-2 receptor binding|kinase activator activity			endometrium(2)|large_intestine(4)|lung(6)|skin(1)	13				LUSC - Lung squamous cell carcinoma(721;0.185)		CATTCAAAATCATCTGTAAAT	0.318000			T	TNFRSF17	intestinal T-cell lymphoma								6	18					0	0	0.00116845	0	0
ACLY	47	broad.mit.edu	37	17	40063723	40063723	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:40063723G>A	ENST00000352035.2	-	7	849	c.719C>T	c.(718-720)cCc>cTc	p.P240L	ACLY_ENST00000393896.2_Missense_Mutation_p.P240L|ACLY_ENST00000353196.1_Missense_Mutation_p.P240L|ACLY_ENST00000537919.1_Intron|ACLY_ENST00000590151.1_Missense_Mutation_p.P240L	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	240					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				CCCGAAGGGGGGAGGGAACTC	0.582000													8	70					0	0	0.000442599	0	0
C10orf12	26148	broad.mit.edu	37	10	98742644	98742644	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:98742644C>T	ENST00000286067.2	+	1	1604	c.1497C>T	c.(1495-1497)ttC>ttT	p.F499F		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	499										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		GTAAAAAATTCCCTGAGGCCT	0.418000													23	36					0	0	0.00332997	0	0
AKAP9	10142	broad.mit.edu	37	7	91651636	91651636	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:91651636C>T	ENST00000359028.2	+	14	4183	c.3958C>T	c.(3958-3960)Cat>Tat	p.H1320Y	AKAP9_ENST00000356239.3_Missense_Mutation_p.H1308Y|AKAP9_ENST00000358100.2_Missense_Mutation_p.H1320Y			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1320					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TTTATCAATCCATTCTCAGAT	0.333000			T	BRAF	papillary thyroid								24	154					0	0	0.00106085	0	0
ZNF528	84436	broad.mit.edu	37	19	52918991	52918991	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:52918991C>T	ENST00000360465.3	+	7	1312	c.886C>T	c.(886-888)Cct>Tct	p.P296S	ZNF528_ENST00000391788.2_3'UTR	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	296					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		TGGAGAGAAGCCTTACAAATG	0.373000													17	92					0	0	0.00121646	0	0
DNAJC5B	85479	broad.mit.edu	37	8	66963832	66963832	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:66963832G>A	ENST00000276570.5	+	3	337	c.50G>A	c.(49-51)gGa>gAa	p.G17E	DNAJC5B_ENST00000519330.1_3'UTR	NM_033105.4	NP_149096.2	Q9UF47	DNJ5B_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5 beta	17					protein folding	membrane	heat shock protein binding|unfolded protein binding			endometrium(3)|large_intestine(6)|liver(1)|lung(6)|prostate(1)|skin(3)	20		Lung NSC(129;0.114)|all_lung(136;0.188)	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)			TCAACAACAGGAGAAGCTCTA	0.403000													22	75					0	0	0.00278032	0	0
ATP1A2	477	broad.mit.edu	37	1	160093111	160093111	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:160093111G>A	ENST00000361216.3	+	4	375	c.286G>A	c.(286-288)Ggg>Agg	p.G96R	ATP1A2_ENST00000472488.1_3'UTR|ATP1A2_ENST00000392233.3_Missense_Mutation_p.G96R	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	96					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			TCAGCTTTTCGGGGGGTTCTC	0.602000													17	93					0	0	0.00152264	0	0
UGT2B28	54490	broad.mit.edu	37	4	70146547	70146547	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:70146547C>T	ENST00000335568.5	+	1	331	c.329C>T	c.(328-330)tCa>tTa	p.S110L	UGT2B28_ENST00000511240.1_Missense_Mutation_p.S110L	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	110					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	TTATATTTTTCACAAGAACAA	0.294000													20	34					0	0	0.00229938	0	0
SNX29	92017	broad.mit.edu	37	16	12136782	12136782	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:12136782G>A	ENST00000566228.1	+	5	345	c.276G>A	c.(274-276)gaG>gaA	p.E92E	SNX29_ENST00000568359.1_3'UTR	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	0					cell communication		phosphatidylinositol binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						ACGTGAAGGAGGTCCTCAACA	0.647000													4	16					0	0	0.00024832	0	0
FCAMR	83953	broad.mit.edu	37	1	207131974	207131974	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:207131974C>T	ENST00000324852.4	-	8	2095	c.1621G>A	c.(1621-1623)Gaa>Aaa	p.E541K	FCAMR_ENST00000450945.2_3'UTR|FCAMR_ENST00000486178.1_5'UTR|FCAMR_ENST00000400962.3_3'UTR	NM_001170631.1	NP_001164102.1	Q8WWV6	FCAMR_HUMAN	Fc receptor, IgA, IgM, high affinity	496						integral to membrane|plasma membrane	receptor activity			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(1)	11						GGGTTCACTTCCAGAAAATGT	0.537000													11	61					0	0	0.00185496	0	0
RNASE11	122651	broad.mit.edu	37	14	21052493	21052493	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:21052493C>T	ENST00000335950.4	-	3	603	c.141G>A	c.(139-141)caG>caA	p.Q47Q	RNASE11_ENST00000398008.2_Silent_p.Q47Q|RNASE11_ENST00000432835.2_Silent_p.Q47Q|RNASE11_ENST00000398009.2_Silent_p.Q47Q|RNASE11_ENST00000555841.1_Silent_p.Q47Q|RNASE11_ENST00000553849.1_Silent_p.Q47Q	NM_145250.3	NP_660293.1	Q8TAA1	RNS11_HUMAN	ribonuclease, RNase A family, 11 (non-active)	47						extracellular region	nucleic acid binding|pancreatic ribonuclease activity			endometrium(1)|large_intestine(6)|lung(7)|ovary(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	21	all_cancers(95;0.00238)	all_lung(585;0.235)	Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)	GBM - Glioblastoma multiforme(265;0.0139)		TCTCAATGGTCTGTTTTTCTT	0.368000													32	123					0	0	0.00375469	0	0
OXTR	5021	broad.mit.edu	37	3	8809232	8809232	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:8809232G>A	ENST00000316793.3	-	3	1266	c.642C>T	c.(640-642)atC>atT	p.I214I	CAV3_ENST00000472766.1_Intron	NM_000916.3	NP_000907.2	P30559	OXYR_HUMAN	oxytocin receptor	214					female pregnancy|lactation|muscle contraction	integral to plasma membrane	oxytocin receptor activity|vasopressin receptor activity			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|urinary_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(96;0.15)	Carbetocin(DB01282)	CAGCGAGCACGATGACCGGCA	0.642000													6	24					0	0	0.00116845	0	0
DDI1	414301	broad.mit.edu	37	11	103908115	103908115	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:103908115G>A	ENST00000302259.3	+	1	808	c.565G>A	c.(565-567)Gaa>Aaa	p.E189K	PDGFD_ENST00000393158.2_Intron|PDGFD_ENST00000302251.5_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	189					proteolysis		aspartic-type endopeptidase activity			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		GCAGCAAAGGGAAAAGGCCTT	0.557000													12	34					0	0	0.00136819	0	0
PARP6	56965	broad.mit.edu	37	15	72553027	72553027	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:72553027G>A	ENST00000569795.1	-	10	1235	c.548C>T	c.(547-549)tCt>tTt	p.S183F	PARP6_ENST00000260376.7_Missense_Mutation_p.S183F|PARP6_ENST00000413097.2_5'UTR|PARP6_ENST00000287196.9_Missense_Mutation_p.S183F			Q2NL67	PARP6_HUMAN	poly (ADP-ribose) polymerase family, member 6	183							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						GAAACTGGGAGACCTGCAGAG	0.498000													14	101					0	0	0.00244969	0	0
OR10Z1	128368	broad.mit.edu	37	1	158576483	158576483	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:158576483G>A	ENST00000361284.1	+	1	255	c.255G>A	c.(253-255)ctG>ctA	p.L85L		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	85					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					TCTCTGGCCTGGCTGGGGGGG	0.547000													20	42					0	0	0.00188189	0	0
CYP3A7	1551	broad.mit.edu	37	7	99328737	99328737	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:99328737C>T	ENST00000336374.2	-	2	112	c.110G>A	c.(109-111)gGa>gAa	p.G37E		NM_000765.3	NP_000756.2	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 7	37					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					CCCTGGAATTCCAAGCTTCTT	0.423000													12	50					0	0	0.00136819	0	0
CHRNA9	55584	broad.mit.edu	37	4	40356167	40356167	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:40356167G>A	ENST00000310169.2	+	5	1209	c.1070G>A	c.(1069-1071)aGc>aAc	p.S357N		NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)	357					elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Nicotine(DB00184)	GTGGGTGAAAGCTGCCTCAGC	0.557000													15	73					0	0	0.00400662	0	0
MECOM	2122	broad.mit.edu	37	3	168807896	168807896	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:168807896C>T	ENST00000464456.1	-	13	3902	c.2702G>A	c.(2701-2703)gGa>gAa	p.G901E	MECOM_ENST00000494292.1_Missense_Mutation_p.G1089E|MECOM_ENST00000468789.1_Missense_Mutation_p.G910E|MECOM_ENST00000392736.3_Missense_Mutation_p.G910E|MECOM_ENST00000264674.3_Missense_Mutation_p.G975E|MECOM_ENST00000472280.1_Missense_Mutation_p.G911E|MECOM_ENST00000433243.2_Missense_Mutation_p.G911E|MECOM_ENST00000460814.1_Missense_Mutation_p.G901E	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TCCTGTTTTTCCAGTAATATC	0.418000													29	46					0	0	0.00283554	0	0
SLC4A8	9498	broad.mit.edu	37	12	51888893	51888893	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:51888893C>T	ENST00000453097.2	+	21	3151	c.2934C>T	c.(2932-2934)ttC>ttT	p.F978F	SLC4A8_ENST00000358657.3_Silent_p.F1005F	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 8	978					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			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)		CCATTGTTTTCCCAATGATGG	0.388000													19	34					0	0	0.00152264	0	0
GTPBP3	84705	broad.mit.edu	37	19	17450299	17450299	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:17450299G>A	ENST00000324894.8	+	7	933	c.865G>A	c.(865-867)Gag>Aag	p.E289K	GTPBP3_ENST00000358792.7_Missense_Mutation_p.E321K|GTPBP3_ENST00000598038.1_3'UTR|GTPBP3_ENST00000361619.5_Missense_Mutation_p.E311K|GTPBP3_ENST00000600625.1_Missense_Mutation_p.E289K	NM_032620.3|NM_133644.3	NP_116009.2|NP_598399.2	Q969Y2	GTPB3_HUMAN	GTP binding protein 3 (mitochondrial)	289					tRNA modification	mitochondrion	GTP binding|GTPase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	18						TGACGTGCTGGAGACCCCAGT	0.692000													5	22					0	0	0.00198382	0	0
OR56B1	387748	broad.mit.edu	37	11	5758189	5758189	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:5758189C>T	ENST00000317121.3	+	1	509	c.443C>T	c.(442-444)tCc>tTc	p.S148F	TRIM5_ENST00000380027.1_Intron	NM_001005180.2	NP_001005180.1	Q8NGI3	O56B1_HUMAN	olfactory receptor, family 56, subfamily B, member 1	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)		GTCACCAGTTCCTTAATCTTA	0.443000													6	28					0	0	0.00198382	0	0
HTT	3064	broad.mit.edu	37	4	3240191	3240191	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:3240191C>T	ENST00000355072.5	+	65	9054	c.8909C>T	c.(8908-8910)cCt>cTt	p.P2970L		NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	2970					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)		AAAGGCTTTCCTTGTGAAGCC	0.587000													7	13					0	0	0.00307968	0	0
GABRG1	2565	broad.mit.edu	37	4	46043062	46043062	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:46043062G>A	ENST00000295452.4	-	9	1508	c.1341C>T	c.(1339-1341)ttC>ttT	p.F447F		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	447					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)		AAGCGGTTGGGAAAAATATTC	0.368000													4	23					0	0	0.00024832	0	0
LDB2	9079	broad.mit.edu	37	4	16900071	16900071	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:16900071G>A	ENST00000502640.1	-	1	186	c.38C>T	c.(37-39)cCt>cTt	p.P13L	LDB2_ENST00000515064.1_Missense_Mutation_p.P13L|LDB2_ENST00000304523.5_Missense_Mutation_p.P13L|LDB2_ENST00000441778.2_Missense_Mutation_p.P13L			O43679	LDB2_HUMAN	LIM domain binding 2	13							LIM domain binding|transcription cofactor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						TGGGCCGAAAGGAGAAGAATA	0.463000													7	14					0	0	0.00307968	0	0
GHR	2690	broad.mit.edu	37	5	42719193	42719193	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:42719193C>T	ENST00000230882.4	+	10	1774	c.1584C>T	c.(1582-1584)ttC>ttT	p.F528F	GHR_ENST00000357703.3_Silent_p.F506F|GHR_ENST00000537449.1_Silent_p.F341F	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	528					2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	AAGAAAACTTCCTTATGGACA	0.498000													8	30					0	0	0.000673444	0	0
CCBL1	883	broad.mit.edu	37	9	131598112	131598112	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:131598112C>T	ENST00000436267.2	-	11	1232	c.1083G>A	c.(1081-1083)aaG>aaA	p.K361K	CCBL1_ENST00000302586.3_Silent_p.K267K|CCBL1_ENST00000320665.6_Silent_p.K217K|CCBL1_ENST00000483599.1_5'UTR			Q16773	KAT1_HUMAN	cysteine conjugate-beta lyase, cytoplasmic	267					kynurenine metabolic process|L-phenylalanine catabolic process|tryptophan catabolic process	cytosol|nucleus	1-aminocyclopropane-1-carboxylate synthase activity|cysteine-S-conjugate beta-lyase activity|glutamine-phenylpyruvate transaminase activity|kynurenine-oxoglutarate transaminase activity|L-glutamine:pyruvate aminotransferase activity|L-phenylalanine:pyruvate aminotransferase activity|protein homodimerization activity|pyridoxal phosphate binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)	18					L-Glutamine(DB00130)|Pyridoxal Phosphate(DB00114)	TCCGCAGGTGCTTCATGATGT	0.622000													7	8					0	0	0.000442599	0	0
FBXO39	162517	broad.mit.edu	37	17	6684060	6684060	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:6684060G>A	ENST00000321535.4	+	2	1003	c.873G>A	c.(871-873)cgG>cgA	p.R291R		NM_153230.2	NP_694962.1	Q8N4B4	FBX39_HUMAN	F-box protein 39	291										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	26						TCTTTGAACGGATCATGAAGT	0.542000													12	11					0	0	0.00136819	0	0
AS3MT	57412	broad.mit.edu	37	10	104629864	104629864	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:104629864G>T	ENST00000369880.3	+	3	143	c.66G>T	c.(64-66)aaG>aaT	p.K22N	C10ORF32_ENST00000299353.6_3'UTR	NM_020682.3	NP_065733.2	Q9HBK9	AS3MT_HUMAN	arsenic (+3 oxidation state) methyltransferase	22					arsonoacetate metabolic process|toxin metabolic process	cytosol	arsenite methyltransferase activity|methylarsonite methyltransferase activity			large_intestine(1)|lung(6)	7		Colorectal(252;0.122)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;5.87e-09)|all cancers(201;1.58e-07)|BRCA - Breast invasive adenocarcinoma(275;0.223)		AGGTGCTGAAGAGATCGGCAG	0.612000													9	15					4.68919e-08	1.36438e-07	0.000673444	1	0
PTTG2	10744	broad.mit.edu	37	4	37962342	37962342	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:37962342A>C	ENST00000504686.1	+	1	287	c.287A>C	c.(286-288)aAg>aCg	p.K96T	TBC1D1_ENST00000261439.4_Intron|TBC1D1_ENST00000508802.1_Intron	NM_006607.2	NP_006598.2	Q9NZH5	PTTG2_HUMAN	pituitary tumor-transforming 2	96					chromosome organization|DNA metabolic process	cytoplasm|nucleus	SH3 domain binding			breast(1)|endometrium(1)|lung(4)|skin(1)	7						ATGACCGAGAAGACTGTTAAA	0.403000													14	64					0	0	0.00400662	0	0
WDR3	10885	broad.mit.edu	37	1	118481118	118481118	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:118481118G>T	ENST00000349139.4	+	5	563	c.516G>T	c.(514-516)atG>atT	p.M172I	WDR3_ENST00000369441.3_3'UTR|WDR3_ENST00000471680.1_3'UTR	NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3	172						nuclear membrane|nucleolus				breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		AAGATACCATGGTGAAATGGT	0.428000													7	47					0.000157383	0.000455976	0.00307968	1	0
SLC25A24	29957	broad.mit.edu	37	1	108703825	108703825	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:108703825G>A	ENST00000565488.1	-	4	708	c.489C>T	c.(487-489)atC>atT	p.I163I	SLC25A24_ENST00000370041.4_Silent_p.I144I	NM_013386.4	NP_037518.3	Q6NUK1	SCMC1_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24	163					transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211)		Colorectal(144;0.0345)|Lung(183;0.0971)|COAD - Colon adenocarcinoma(174;0.127)|Epithelial(280;0.134)		TCCAGAAACGGATAATTTCCT	0.348000													10	75					0	0	0.000442599	0	0
NUP210L	91181	broad.mit.edu	37	1	154029408	154029408	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:154029408C>T	ENST00000368559.3	-	23	3194	c.3123G>A	c.(3121-3123)caG>caA	p.Q1041Q	NUP210L_ENST00000271854.3_Silent_p.Q1041Q	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1041						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			AGTATTCGTCCTGTTGCTCCA	0.423000													6	62					0	0	0.00198382	0	0
ZNF143	7702	broad.mit.edu	37	11	9546840	9546840	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:9546840G>A	ENST00000396602.2	+	15	1859	c.1740G>A	c.(1738-1740)atG>atA	p.M580I	ZNF143_ENST00000530463.1_Missense_Mutation_p.M579I|ZNF143_ENST00000396604.1_Missense_Mutation_p.M579I|ZNF143_ENST00000299606.2_Missense_Mutation_p.M552I|ZNF143_ENST00000396597.3_Missense_Mutation_p.M549I	NM_003442.5	NP_003433.3	P52747	ZN143_HUMAN	zinc finger protein 143	580					regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|zinc ion binding			endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	13				all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)		CATCAGAAATGGGGCACCAGC	0.443000													20	53					0	0	0.00229938	0	0
C20orf24	55969	broad.mit.edu	37	20	35240525	35240525	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:35240525C>T	ENST00000342422.3	+	3	461	c.331C>T	c.(331-333)Cgt>Tgt	p.R111C	C20orf24_ENST00000373852.5_3'UTR|TGIF2-C20orf24_ENST00000558530.1_3'UTR|C20orf24_ENST00000344795.3_3'UTR	NM_199483.2	NP_955777.1			chromosome 20 open reading frame 24											breast(1)|kidney(1)|lung(2)	4	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				GGAACTTGATCGTTGGGGAAC	0.512000													49	152					0	0	0.00361006	0	0
FGG	2266	broad.mit.edu	37	4	155526062	155526062	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:155526062C>T	ENST00000404648.3	-	9	1525	c.1286G>A	c.(1285-1287)gGg>gAg	p.G429E	FGG_ENST00000405164.1_Missense_Mutation_p.G437E|FGG_ENST00000407946.1_Missense_Mutation_p.G437E|FGG_ENST00000336098.3_Missense_Mutation_p.G429E	NM_000509.4	NP_000500.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	429	Platelet aggregation and Staphylococcus clumping.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	TTTGGCTCCCCCCAGGTGGTG	0.453000													33	34					0	0	0.00375469	0	0
PBX3	5090	broad.mit.edu	37	9	128723127	128723127	+	Splice_Site	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:128723127C>T	ENST00000373487.4	+	7	1151	c.1072_splice	c.e7+1	p.S357_splice	PBX3_ENST00000373483.2_Splice_Site_p.S155_splice|PBX3_ENST00000342287.5_Splice_Site_p.S336_splice|PBX3_ENST00000447726.2_Splice_Site_p.S261_splice|PBX3_ENST00000373489.5_Splice_Site_p.S336_splice|PBX3_ENST00000538998.1_3'UTR			P40426	PBX3_HUMAN	pre-B-cell leukemia homeobox 3	336					anterior compartment pattern formation|posterior compartment specification		sequence-specific DNA binding transcription factor activity			biliary_tract(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)	24						CACCAAATTCCGGTGCGTACT	0.587000													4	8					0	0	0.000602214	0	0
GPR158	57512	broad.mit.edu	37	10	25886792	25886792	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:25886792C>T	ENST00000376351.3	+	11	2596	c.2237C>T	c.(2236-2238)tCg>tTg	p.S746L	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	746						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						AAGCGGTGCTCGAAGAAGGGC	0.502000													5	26					0	0	0.000602214	0	0
VPS13C	54832	broad.mit.edu	37	15	62269286	62269286	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:62269286C>T	ENST00000261517.5	-	24	2476	c.2403G>A	c.(2401-2403)atG>atA	p.M801I	VPS13C_ENST00000395898.3_Missense_Mutation_p.M758I|VPS13C_ENST00000395896.4_Missense_Mutation_p.M801I|VPS13C_ENST00000249837.3_Missense_Mutation_p.M758I	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	801					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						ATTACCTGGCCATTCTAATGT	0.348000													11	56					0	0	0.000978159	0	0
POU6F2	11281	broad.mit.edu	37	7	39247115	39247115	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:39247115G>A	ENST00000518318.2	+	4	449	c.407G>A	c.(406-408)gGa>gAa	p.G136E	POU6F2_ENST00000559001.1_Missense_Mutation_p.G128E|POU6F2_ENST00000517348.1_3'UTR|POU6F2_ENST00000403058.1_Missense_Mutation_p.G136E			P78424	PO6F2_HUMAN	POU class 6 homeobox 2	136					central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						GGCCAGCAAGGACTGGTTCTC	0.597000													8	55					0	0	0.00307968	0	0
PRDM9	56979	broad.mit.edu	37	5	23522427	23522427	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:23522427G>A	ENST00000296682.3	+	7	705	c.523G>A	c.(523-525)Gag>Aag	p.E175K		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	175					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CAGGAAGAAGGAGACTGAAAG	0.428000										HNSCC(3;0.000094)			46	71					0	0	0.00361006	0	0
SPTY2D1	144108	broad.mit.edu	37	11	18636786	18636786	+	Silent	SNP	C	C	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:18636786C>A	ENST00000336349.5	-	3	1270	c.1035G>T	c.(1033-1035)ctG>ctT	p.L345L		NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)	345	Ser-rich.									breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						TAGGATGGGACAGAGATTTTT	0.542000													31	111					3.90053e-15	1.14088e-14	0.0024448	1	0
ZNF655	79027	broad.mit.edu	37	7	99169928	99169928	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:99169928T>G	ENST00000424881.1	+	4	522	c.302T>G	c.(301-303)gTg>gGg	p.V101G	ZNF655_ENST00000425063.1_3'UTR|ZNF655_ENST00000419215.2_3'UTR|ZNF655_ENST00000252713.4_Missense_Mutation_p.V66G|ZNF655_ENST00000493277.1_Missense_Mutation_p.V101G|ZNF655_ENST00000394163.2_Missense_Mutation_p.V66G	NM_001083956.1|NM_001085368.1	NP_001077425.1|NP_001078837.1	Q8N720	ZN655_HUMAN	zinc finger protein 655	66					G1 phase|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	16	all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)					TCGGAAGAAGTGCATTCATAC	0.363000													12	65					0	0	0.00244969	0	0
NBPF3	84224	broad.mit.edu	37	1	21798081	21798081	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:21798081C>T	ENST00000318220.6	+	8	1346	c.298C>T	c.(298-300)Cac>Tac	p.H100Y	NBPF3_ENST00000454000.2_Missense_Mutation_p.H86Y|NBPF3_ENST00000342104.5_Missense_Mutation_p.H156Y|NBPF3_ENST00000318249.5_Missense_Mutation_p.H156Y			Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	156						cytoplasm				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		AGTCCTGGTTCACTCTCAGGA	0.453000													18	123					0	0	0.00152264	0	0
KIAA1804	84451	broad.mit.edu	37	1	233489594	233489594	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:233489594C>T	ENST00000366624.3	+	3	1289	c.1028C>T	c.(1027-1029)cCc>cTc	p.P343L	MLK4_ENST00000366623.3_Missense_Mutation_p.P343L	NM_032435.2	NP_115811.2																					GGAGAAGTCCCCTATCGGGGC	0.517000													10	24					0	0	0.000978159	0	0
RABGAP1L	9910	broad.mit.edu	37	1	174219735	174219735	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:174219735G>A	ENST00000251507.4	+	6	1014	c.840G>A	c.(838-840)ttG>ttA	p.L280L	RABGAP1L_ENST00000357444.6_Silent_p.L243L|RABGAP1L_ENST00000367689.3_5'UTR	NM_014857.4	NP_055672.3	Q5R372	RBG1L_HUMAN	RAB GTPase activating protein 1-like	280	PID.				regulation of protein localization	early endosome|Golgi apparatus|nucleus	Rab GTPase activator activity			NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						GTGTCTCCTTGGAGGTAAAAG	0.393000													25	53					0	0	0.000878237	0	0
CFH	3075	broad.mit.edu	37	1	196711041	196711041	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:196711041C>T	ENST00000367429.4	+	19	3233	c.2993C>T	c.(2992-2994)gCc>gTc	p.A998V		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	998	Sushi 17.				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						TTTGAAAATGCCATACCCATG	0.363000													12	49					0	0	0.00136819	0	0
PCDHGB1	56104	broad.mit.edu	37	5	140732168	140732168	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:140732168C>T	ENST00000523390.1	+	1	2341	c.2341C>T	c.(2341-2343)Cct>Tct	p.P781S	PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1														central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGTGATGATCCTTCTATGGT	0.408000													10	11					0	0	0.000673444	0	0
SLC6A1	6529	broad.mit.edu	37	3	11059101	11059101	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:11059101G>A	ENST00000287766.4	+	3	625	c.204G>A	c.(202-204)tgG>tgA	p.W68*	SLC6A1_ENST00000462473.1_Intron|SLC6A1-AS1_ENST00000414969.2_RNA|SLC6A1_ENST00000536032.1_Intron	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	68					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	GCAACGTCTGGAGGTTCCCCT	0.622000													12	43					0	0	0.00244969	0	0
SLC17A1	6568	broad.mit.edu	37	6	25801146	25801146	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:25801146G>A	ENST00000244527.4	-	11	1356	c.1241C>T	c.(1240-1242)tCc>tTc	p.S414F	SLC17A1_ENST00000476801.1_Missense_Mutation_p.S414F|SLC17A1_ENST00000468082.1_Missense_Mutation_p.S360F|SLC17A1_ENST00000427328.1_Missense_Mutation_p.S360F	NM_005074.3	NP_005065.2	Q14916	NPT1_HUMAN	solute carrier family 17 (organic anion transporter), member 1	414					sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						AGTCAAAGTGGAAGCAATTAG	0.289000													19	145					0	0	0.00229938	0	0
DNAH8	1769	broad.mit.edu	37	6	38950159	38950159	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:38950159C>T	ENST00000359357.3	+	84	12475	c.12221C>T	c.(12220-12222)cCc>cTc	p.P4074L	DNAH8_ENST00000441566.1_Missense_Mutation_p.P4038L					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TGGAATATTCCCTACGAATTC	0.353000													19	153					0	0	0.00121646	0	0
INHBA	3624	broad.mit.edu	37	7	41730140	41730140	+	Splice_Site	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:41730140C>T	ENST00000242208.4	-	3	635	c.388_splice	c.e3-1	p.G130_splice	AC005027.3_ENST00000416150.1_RNA|INHBA_ENST00000464515.1_5'UTR|INHBA_ENST00000442711.1_Splice_Site_p.G130_splice	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	130					cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|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|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity			biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						CCTGGCTGTTCCTGAAGATGA	0.478000										TSP Lung(11;0.080)			5	18					0	0	0.000602214	0	0
EMD	2010	broad.mit.edu	37	X	153609346	153609346	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:153609346C>T	ENST00000369842.4	+	6	842	c.554C>T	c.(553-555)tCc>tTc	p.S185F	EMD_ENST00000369835.3_Missense_Mutation_p.S150F|EMD_ENST00000492448.1_3'UTR	NM_000117.2	NP_000108.1	P50402	EMD_HUMAN	emerin	185	Interaction with CTNNB1.|Interaction with F-actin (Probable).				cellular response to growth factor stimulus|muscle contraction|muscle organ development|negative regulation of catenin import into nucleus|negative regulation of fibroblast proliferation|positive regulation of protein export from nucleus|regulation of canonical Wnt receptor signaling pathway	endoplasmic reticulum|integral to membrane|microtubule|nuclear inner membrane|nuclear outer membrane	actin binding|beta-tubulin binding			lung(5)	5	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TATCCTACTTCCTCCTCCACC	0.607000													12	22					0	0	0.00244969	0	0
KSR2	283455	broad.mit.edu	37	12	117962929	117962929	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:117962929G>A	ENST00000425217.1	-	14	1914	c.1860C>T	c.(1858-1860)gcC>gcT	p.A620A	KSR2_ENST00000339824.5_Silent_p.A649A|KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000302438.5_Silent_p.A346A	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	649					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGGTCTGGCTGGCCTTGCGTG	0.582000													7	38					0	0	0.000274275	0	0
PLSCR2	57047	broad.mit.edu	37	3	146173114	146173114	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:146173114C>T	ENST00000497985.1	-	6	891	c.452G>A	c.(451-453)aGg>aAg	p.R151K	PLSCR2_ENST00000336685.2_Missense_Mutation_p.R78K	NM_001199978.1	NP_001186907.1	Q9NRY7	PLS2_HUMAN	phospholipid scramblase 2	78					phospholipid scrambling	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity			endometrium(2)|large_intestine(5)|lung(7)|stomach(1)	15						ATCAGTAATCCTCAAGGTAAA	0.433000													13	85					0	0	0.00400662	0	0
CHRNB3	1142	broad.mit.edu	37	8	42587062	42587062	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:42587062G>A	ENST00000289957.2	+	5	740	c.612G>A	c.(610-612)ctG>ctA	p.L204L		NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta 3 (neuronal)	204					synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			GGGAAATACTGAACGCAAAGG	0.458000													16	87					0	0	0.00152264	0	0
OMA1	115209	broad.mit.edu	37	1	59002385	59002385	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:59002385G>A	ENST00000371226.3	-	3	642	c.529C>T	c.(529-531)Cct>Tct	p.P177S	OMA1_ENST00000358603.2_Missense_Mutation_p.P177S|DAB1_ENST00000485760.1_Intron|OMA1_ENST00000467063.1_5'UTR	NM_145243.3	NP_660286.1	Q96E52	OMA1_HUMAN	OMA1 zinc metallopeptidase	177					proteolysis	integral to membrane|mitochondrial membrane	metal ion binding|metalloendopeptidase activity			NS(1)|breast(1)|large_intestine(6)|liver(2)|lung(6)|prostate(1)|skin(1)	18	all_cancers(7;6.54e-05)					TTGTTAGGAGGAAGTGCCTGC	0.353000													16	87					0	0	0.000958276	0	0
LOC101927209	101927209	broad.mit.edu	37	1	142713944	142713944	+	RNA	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:142713944C>T	ENST00000369381.2	-	0	661																											TGATTACCTCCGAAGTTAAAG	0.308000													4	15					0	0	0.00024832	0	0
ITGAL	3683	broad.mit.edu	37	16	30500427	30500427	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:30500427C>T	ENST00000356798.6	+	10	1211	c.1031C>T	c.(1030-1032)tCc>tTc	p.S344F	ITGAL_ENST00000358164.5_Missense_Mutation_p.S261F|ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000568012.1_3'UTR|RP11-297C4.2_ENST00000569459.1_RNA	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	344					blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	GACCTGACTTCCTTCAACATG	0.562000													17	24					0	0	0.00121646	0	0
ZNF98	148198	broad.mit.edu	37	19	22574407	22574407	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:22574407T>C	ENST00000357774.5	-	4	1751	c.1630A>G	c.(1630-1632)Aaa>Gaa	p.K544E		NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	544					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				TTGTAGAGTTTCTCTCCAGTA	0.348000													5	14					0	0	0.00307968	0	0
RBM24	221662	broad.mit.edu	37	6	17291987	17291987	+	Splice_Site	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:17291987G>A	ENST00000379052.5	+	4	584	c.347_splice	c.e4-1	p.G116_splice	RBM24_ENST00000425446.2_Splice_Site_p.G58_splice|RBM24_ENST00000508508.1_3'UTR|RBM24_ENST00000318204.5_Splice_Site_p.G71_splice	NM_001143942.1	NP_001137414.1	Q9BX46	RBM24_HUMAN	RNA binding motif protein 24	116					cell differentiation|regulation of mRNA stability|regulation of myotube differentiation	cytoplasm|nucleus	mRNA 3'-UTR binding|nucleotide binding			endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	13	Breast(50;0.0615)|Ovarian(93;0.0733)	all_hematologic(90;0.062)	all cancers(50;0.131)|Epithelial(50;0.15)			TTCTCAACAGGATACCTGCCC	0.488000													28	193					0	0	0.0024448	0	0
PHKA1	5255	broad.mit.edu	37	X	71870317	71870317	+	Splice_Site	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:71870317C>T	ENST00000373545.3	-	13	1685	c.1245_splice	c.e13-1	p.G416_splice	PHKA1_ENST00000541944.1_Splice_Site_p.G416_splice|PHKA1_ENST00000373539.3_Splice_Site_p.G416_splice|PHKA1_ENST00000373542.4_Splice_Site_p.G416_splice|PHKA1_ENST00000339490.3_Splice_Site_p.G416_splice			P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	416					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					GGCTAAAAATCCCTAAAGAAA	0.398000													7	18					0	0	0.000442599	0	0
COL18A1	80781	broad.mit.edu	37	21	46911158	46911158	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr21:46911158G>A	ENST00000359759.4	+	21	3353	c.3332G>A	c.(3331-3333)gGa>gAa	p.G1111E	COL18A1_ENST00000400337.2_Missense_Mutation_p.G696E|COL18A1_ENST00000355480.5_Missense_Mutation_p.G876E			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1111	Triple-helical region 4 (COL4).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		GGGAAGGACGGAGTCGGGCAG	0.692000													7	18					0	0	0.00307968	0	0
CLIC6	54102	broad.mit.edu	37	21	36081723	36081723	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr21:36081723G>A	ENST00000360731.3	+	6	1840	c.1840G>A	c.(1840-1842)Gaa>Aaa	p.E614K	CLIC6_ENST00000349499.2_Missense_Mutation_p.E596K			Q96NY7	CLIC6_HUMAN	chloride intracellular channel 6	614	GST C-terminal.					chloride channel complex|cytoplasm|plasma membrane	voltage-gated chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						TCTGCCTGATGAAATAGATGC	0.473000													9	33					0	0	0.000442599	0	0
INTS7	25896	broad.mit.edu	37	1	212190337	212190337	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:212190337G>A	ENST00000366994.3	-	4	504	c.400C>T	c.(400-402)Cct>Tct	p.P134S	INTS7_ENST00000440600.2_Missense_Mutation_p.P85S|INTS7_ENST00000366992.3_Missense_Mutation_p.P134S|INTS7_ENST00000366993.3_Missense_Mutation_p.P134S|INTS7_ENST00000469606.1_5'UTR	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	134					snRNA processing	integrator complex	protein binding			NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		TTCCTCTCAGGAATTATTGAT	0.408000													23	132					0	0	0.00127121	0	0
ADRB2	154	broad.mit.edu	37	5	148207009	148207009	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:148207009C>T	ENST00000305988.4	+	1	854	c.615C>T	c.(613-615)atC>atT	p.I205I		NM_000024.5	NP_000015.1	P07550	ADRB2_HUMAN	adrenoceptor beta 2, surface	205	Agonist and antagonist binding.				activation of transmembrane receptor protein tyrosine kinase activity|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|endosome to lysosome transport|positive regulation of MAPKKK cascade|receptor-mediated endocytosis	endosome|integral to plasma membrane|lysosome|receptor complex	beta2-adrenergic receptor activity|norepinephrine binding|potassium channel regulator activity|protein homodimerization activity			endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(3)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Alprenolol(DB00866)|Arformoterol(DB01274)|Bambuterol(DB01408)|Bisoprolol(DB00612)|Bitolterol(DB00901)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Nadolol(DB01203)|Norepinephrine(DB00368)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Terbutaline(DB00871)|Timolol(DB00373)	CCTCTTCCATCGTGTCCTTCT	0.537000													32	120					0	0	0.00170553	0	0
XCL1	6375	broad.mit.edu	37	1	168549308	168549308	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:168549308G>A	ENST00000367818.3	+	2	234	c.69G>A	c.(67-69)ggG>ggA	p.G23G		NM_002995.2	NP_002986.1	P47992	XCL1_HUMAN	chemokine (C motif) ligand 1	23					CD4-positive, alpha-beta T cell proliferation|CD8-positive, alpha-beta T cell proliferation|cell-cell signaling|cellular response to interleukin-4|cellular response to transforming growth factor beta stimulus|immunoglobulin production in mucosal tissue|lymphocyte chemotaxis|negative regulation of interferon-gamma production|negative regulation of interleukin-2 production|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell cytokine production|negative regulation of T-helper 1 cell activation|negative regulation of transcription, DNA-dependent|neutrophil chemotaxis|positive regulation of activated T cell proliferation|positive regulation of B cell chemotaxis|positive regulation of granzyme A production|positive regulation of granzyme B production|positive regulation of interleukin-10 production|positive regulation of natural killer cell chemotaxis|positive regulation of neutrophil chemotaxis|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of T cell chemotaxis|positive regulation of T cell cytokine production|positive regulation of T cell mediated cytotoxicity|positive regulation of thymocyte migration|positive regulation of transforming growth factor-beta production|regulation of inflammatory response|release of sequestered calcium ion into cytosol|response to virus|T-helper 1 cell cytokine production|T-helper 2 cell cytokine production	extracellular space	chemokine activity|protein homodimerization activity			kidney(2)|lung(7)|upper_aerodigestive_tract(1)	10	all_hematologic(923;0.208)					CAGGTGTAGGGAGTGAAGTCT	0.433000													6	18					0	0	0.00116845	0	0
PXDNL	137902	broad.mit.edu	37	8	52320835	52320835	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:52320835G>A	ENST00000356297.4	-	17	3449	c.3349C>T	c.(3349-3351)Ctt>Ttt	p.L1117F	PXDNL_ENST00000543296.1_Missense_Mutation_p.L1117F	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1117					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GGACTGAGAAGGTAGGAGGGT	0.582000													8	79					0	0	0.000274275	0	0
EPC1	80314	broad.mit.edu	37	10	32580220	32580220	+	Silent	SNP	G	G	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:32580220G>T	ENST00000319778.6	-	6	1148	c.846C>A	c.(844-846)atC>atA	p.I282I	EPC1_ENST00000263062.8_Silent_p.I282I|EPC1_ENST00000375110.2_Silent_p.I232I	NM_001272004.1|NM_001272019.1	NP_001258933.1|NP_001258948.1	Q9H2F5	EPC1_HUMAN	enhancer of polycomb homolog 1 (Drosophila)	282					histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear membrane|Piccolo NuA4 histone acetyltransferase complex				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24		Prostate(175;0.0199)				CCTCAGACATGATCTCTCCAT	0.333000													17	93					2.94398e-08	8.56998e-08	0.000958276	1	0
TRIM62	55223	broad.mit.edu	37	1	33623903	33623903	+	Silent	SNP	G	G	A	rs115222802	byFrequency	TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:33623903G>A	ENST00000291416.5	-	4	1061	c.828C>T	c.(826-828)ggC>ggT	p.G276G	TRIM62_ENST00000543586.1_Silent_p.G155G	NM_018207.2	NP_060677.2	Q9BVG3	TRI62_HUMAN	tripartite motif containing 62	276						intracellular	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)				ACTGCAGGGGGCCTGTGTACT	0.562000													15	63					0	0	0.000566183	0	0
RIC3	79608	broad.mit.edu	37	11	8148267	8148267	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:8148267G>A	ENST00000396677.2	-	2	122	c.123C>T	c.(121-123)ttC>ttT	p.F41F	RIC3_ENST00000335425.7_Intron|RIC3_ENST00000425599.2_Intron|RIC3_ENST00000343202.4_Silent_p.F202F|RIC3_ENST00000530060.1_5'UTR|RIC3_ENST00000539720.1_Silent_p.F154F|RIC3_ENST00000309737.6_Silent_p.F203F			Q7Z5B4	RIC3_HUMAN	RIC3 acetylcholine receptor chaperone	203						endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)		ATCTGTCAATGAATTTTCCTT	0.443000													15	44					0	0	0.00074312	0	0
AUH	549	broad.mit.edu	37	9	93983214	93983214	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:93983214G>A	ENST00000375731.4	-	7	739	c.716C>T	c.(715-717)tCt>tTt	p.S239F	AUH_ENST00000303617.5_Missense_Mutation_p.S210F	NM_001698.2	NP_001689.1	Q13825	AUHM_HUMAN	AU RNA binding protein/enoyl-CoA hydratase	239					branched chain family amino acid catabolic process|mRNA catabolic process	mitochondrial matrix	enoyl-CoA hydratase activity|methylglutaconyl-CoA hydratase activity|mRNA 3'-UTR binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	11						GACTCGCGCAGAGAATATGAG	0.557000													10	48					0	0	0.000978159	0	0
ETV6	2120	broad.mit.edu	37	12	12022819	12022819	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:12022819C>T	ENST00000396373.4	+	5	1199	c.925C>T	c.(925-927)Cgg>Tgg	p.R309W		NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN	ets variant 6	309						cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				CCTCTCTCATCGGGAAGACCT	0.577000			T	"""NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"""	"""congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"""								8	47					0	0	0.00185496	0	0
GRM7	2917	broad.mit.edu	37	3	7340486	7340486	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:7340486G>A	ENST00000486284.1	+	3	1126	c.852G>A	c.(850-852)gtG>gtA	p.V284V	GRM7_ENST00000403881.1_Silent_p.V284V|GRM7_ENST00000402647.2_Silent_p.V284V|GRM7_ENST00000389336.4_Silent_p.V284V|GRM7_ENST00000357716.4_Silent_p.V284V	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	284					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	GGGCCGTCGTGATTTTTGCCA	0.453000													8	22					0	0	0.000274275	0	0
ITGB5	3693	broad.mit.edu	37	3	124567200	124567200	+	Silent	SNP	A	A	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:124567200A>T	ENST00000296181.4	-	4	863	c.567T>A	c.(565-567)ccT>ccA	p.P189P	ITGB5_ENST00000488466.1_5'UTR	NM_002213.3	NP_002204.2	P18084	ITB5_HUMAN	integrin, beta 5	189	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction	integrin complex	receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30				GBM - Glioblastoma multiforme(114;0.163)		TGTAGGAGAAAGGAGAGATGT	0.527000													17	83					0	0	0.000958276	0	0
PCLO	27445	broad.mit.edu	37	7	82585284	82585284	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:82585284C>T	ENST00000423517.2	-	5	5322	c.4985G>A	c.(4984-4986)gGa>gAa	p.G1662E	PCLO_ENST00000333891.8_Missense_Mutation_p.G1662E	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1593					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						GCGTAGCCCTCCTCCTCCAGT	0.368000													59	46					0	0	0.00361006	0	0
AMPH	273	broad.mit.edu	37	7	38574563	38574563	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:38574563C>T	ENST00000356264.2	-	2	333	c.118G>A	c.(118-120)Gaa>Aaa	p.E40K	AMPH_ENST00000325590.5_Missense_Mutation_p.E40K|AMPH_ENST00000428293.2_Missense_Mutation_p.E40K	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	40	BAR.				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						ACATATTCTTCGAACTGTTCG	0.338000													12	66					0	0	0.00185496	0	0
MUC16	94025	broad.mit.edu	37	19	9085999	9085999	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:9085999G>A	ENST00000397910.4	-	1	6019	c.5816C>T	c.(5815-5817)tCa>tTa	p.S1939L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1939	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						TGGAATGGATGAAAAAGGCAA	0.488000													4	15					0	0	0.000602214	0	0
FBXL20	84961	broad.mit.edu	37	17	37455277	37455277	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:37455277G>A	ENST00000264658.6	-	5	555	c.295C>T	c.(295-297)Cgt>Tgt	p.R99C	FBXL20_ENST00000577399.1_Missense_Mutation_p.R101C|FBXL20_ENST00000394294.3_Missense_Mutation_p.R99C|FBXL20_ENST00000583610.1_Missense_Mutation_p.R99C	NM_032875.2	NP_116264.2	Q96IG2	FXL20_HUMAN	F-box and leucine-rich repeat protein 20	99						cytoplasm				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22			LUAD - Lung adenocarcinoma(14;0.146)			AGACATCCACGAAGACTTAAC	0.408000													39	52					0	0	0.0025221	0	0
HOMER2	9455	broad.mit.edu	37	15	83527798	83527798	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:83527798C>T	ENST00000304231.8	-	5	702	c.510G>A	c.(508-510)aaG>aaA	p.K170K	HOMER2_ENST00000399166.2_Silent_p.K159K|HOMER2_ENST00000426485.1_Silent_p.K170K|HOMER2_ENST00000450735.2_Silent_p.K159K	NM_199330.2	NP_955362.1	Q9NSB8	HOME2_HUMAN	homer homolog 2 (Drosophila)	170					metabotropic glutamate receptor signaling pathway	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane				cervix(1)|endometrium(2)|lung(6)	9						TCAAGGCAATCTTCAGCTTGT	0.502000													17	57					0	0	0.00121646	0	0
WFS1	7466	broad.mit.edu	37	4	6303031	6303031	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:6303031C>T	ENST00000226760.1	+	8	1679	c.1509C>T	c.(1507-1509)gtC>gtT	p.V503V	WFS1_ENST00000503569.1_Silent_p.V503V	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	503					endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		ACGTCAGCGTCCCGTGCCTGC	0.577000													52	221					0	0	0.00361006	0	0
ZNF573	126231	broad.mit.edu	37	19	38230877	38230877	+	Missense_Mutation	SNP	G	G	A	rs149253687	byFrequency	TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:38230877G>A	ENST00000339503.4	-	8	841	c.340C>T	c.(340-342)Cgt>Tgt	p.R114C	ZNF573_ENST00000590414.2_Missense_Mutation_p.R172C|ZNF573_ENST00000392138.1_Missense_Mutation_p.R85C|ZNF573_ENST00000585724.1_3'UTR|ZNF573_ENST00000536220.1_Missense_Mutation_p.R84C|ZNF573_ENST00000357309.3_Missense_Mutation_p.R84C	NM_152360.3	NP_689573.3	Q86YE8	ZN573_HUMAN	zinc finger protein 573	152					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R114C(1)		NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			TAGCCACTACGAAAGTTCTTC	0.373000													18	81					0	0	0.00074312	0	0
LRP1B	53353	broad.mit.edu	37	2	141130628	141130628	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:141130628C>T	ENST00000389484.3	-	69	11688	c.10717G>A	c.(10717-10719)Gat>Aat	p.D3573N		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3573	LDL-receptor class A 27.				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)		TCATGGCCATCACATTTCCAT	0.363000										TSP Lung(27;0.18)			13	43					0	0	0.00185496	0	0
FILIP1	27145	broad.mit.edu	37	6	76023567	76023567	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:76023567C>T	ENST00000393004.2	-	5	2202	c.1981G>A	c.(1981-1983)Gat>Aat	p.D661N	FILIP1_ENST00000237172.7_Missense_Mutation_p.D661N|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000370020.1_Missense_Mutation_p.D562N			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	661										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TCCAGCTGATCATACTCATCT	0.393000													27	100					0	0	0.0024448	0	0
ERCC6L	54821	broad.mit.edu	37	X	71427393	71427393	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:71427393C>T	ENST00000373657.1	-	3	1457	c.855G>A	c.(853-855)aaG>aaA	p.K285K	ERCC6L_ENST00000334463.3_Silent_p.K408K|PIN4_ENST00000423432.2_Intron			Q2NKX8	ERC6L_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6-like	408					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					CACACAGCTTCTTTAAGACAC	0.443000													35	34					0	0	0.00327116	0	0
OR5P2	120065	broad.mit.edu	37	11	7818247	7818247	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:7818247G>A	ENST00000329434.2	-	1	273	c.243C>T	c.(241-243)ttC>ttT	p.F81F	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P, member 2	81					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TCTCCACCAGGAAGTTTACAA	0.483000													17	48					0	0	0.000958276	0	0
OR6C65	403282	broad.mit.edu	37	12	55795008	55795008	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:55795008G>A	ENST00000379665.2	+	1	795	c.696G>A	c.(694-696)agG>agA	p.R232R		NM_001005518.1	NP_001005518.1	A6NJZ3	O6C65_HUMAN	olfactory receptor, family 6, subfamily C, member 65	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						CCCAGCAAAGGAAAAAGGCTT	0.398000													27	77					0	0	0.000878237	0	0
TTC5	91875	broad.mit.edu	37	14	20767022	20767022	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:20767022G>A	ENST00000258821.3	-	5	629	c.573C>T	c.(571-573)tcC>tcT	p.S191S		NM_138376.2	NP_612385.2	Q8N0Z6	TTC5_HUMAN	tetratricopeptide repeat domain 5	191					DNA repair	cytoplasm|nucleus	binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_cancers(95;0.00092)		Epithelial(56;1.1e-06)|all cancers(55;8.07e-06)	GBM - Glioblastoma multiforme(265;0.0106)		AGAAGTAAAGGGAAAGATATG	0.413000													10	38					0	0	0.00136819	0	0
HIVEP3	59269	broad.mit.edu	37	1	42050193	42050193	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:42050193G>A	ENST00000372584.1	-	3	1290	c.276C>T	c.(274-276)atC>atT	p.I92I	HIVEP3_ENST00000429157.2_Silent_p.I92I|HIVEP3_ENST00000372583.1_Silent_p.I92I|HIVEP3_ENST00000247584.5_Silent_p.I92I	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	92					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)				GAAGCTGTGAGATGTGGACGG	0.597000													31	100					0	0	0.000953801	0	0
CXCL12	6387	broad.mit.edu	37	10	44876265	44876265	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:44876265G>A	ENST00000374429.2	-	2	211	c.125C>T	c.(124-126)gCc>gTc	p.A42V	CXCL12_ENST00000395793.3_Intron|CXCL12_ENST00000395794.2_Missense_Mutation_p.A42V|CXCL12_ENST00000343575.6_Missense_Mutation_p.A42V|CXCL12_ENST00000374426.2_Missense_Mutation_p.A42V|AL137026.1_ENST00000593376.1_Intron|CXCL12_ENST00000395795.4_Missense_Mutation_p.A42V|CXCL12_ENST00000496375.1_5'UTR	NM_000609.5|NM_001277990.1	NP_000600.1|NP_001264919.1	P48061	SDF1_HUMAN	chemokine (C-X-C motif) ligand 12	42					blood circulation|cell adhesion|cellular calcium ion homeostasis|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|negative regulation of leukocyte apoptosis|positive regulation of monocyte chemotaxis|regulation of actin polymerization or depolymerization|response to virus	extracellular space	chemokine activity|growth factor activity|signal transducer activity			endometrium(1)|large_intestine(1)|lung(3)|skin(1)	6					Dexamethasone(DB01234)	CTTGACGTTGGCTCTGGCAAC	0.458000													11	309					0	0	0.00244969	0	0
THOC5	8563	broad.mit.edu	37	22	29927911	29927911	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr22:29927911G>A	ENST00000490103.1	-	8	878	c.756C>T	c.(754-756)gaC>gaT	p.D252D	THOC5_ENST00000397873.2_Silent_p.D252D|CTA-256D12.11_ENST00000411969.1_RNA|THOC5_ENST00000397871.1_Silent_p.D252D|THOC5_ENST00000397872.1_Silent_p.D252D	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN	THO complex 5	252					intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing	cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex	protein binding|RNA binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TGTGAGCCTGGTCGAATGGCA	0.522000													6	26					0	0	0.00116845	0	0
CSMD1	64478	broad.mit.edu	37	8	3432542	3432542	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:3432542G>A	ENST00000602557.1	-	11	1827	c.1272C>T	c.(1270-1272)acC>acT	p.T424T	CSMD1_ENST00000537824.1_Silent_p.T423T|CSMD1_ENST00000542608.1_Silent_p.T423T|CSMD1_ENST00000539096.1_Silent_p.T423T|CSMD1_ENST00000400186.3_Silent_p.T424T|CSMD1_ENST00000520002.1_Silent_p.T424T|CSMD1_ENST00000602723.1_Silent_p.T424T			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	424	CUB 3.					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)		AATTAGGGGAGGTAATGACGC	0.502000													9	26					0	0	0.000274275	0	0
OR6C2	341416	broad.mit.edu	37	12	55846822	55846822	+	Silent	SNP	T	T	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:55846822T>C	ENST00000322678.1	+	1	825	c.825T>C	c.(823-825)ctT>ctC	p.L275L	RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA	NM_054105.1	NP_473446.1	Q9NZP2	OR6C2_HUMAN	olfactory receptor, family 6, subfamily C, member 2	275					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						TTTCAGTTCTTACTACTTCTG	0.413000													5	20					0	0	0.000602214	0	0
POU6F2	11281	broad.mit.edu	37	7	39504282	39504282	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:39504282C>T	ENST00000518318.2	+	10	2007	c.1965C>T	c.(1963-1965)tcC>tcT	p.S655S	POU6F2_ENST00000559001.1_Silent_p.S636S|POU6F2_ENST00000403058.1_Silent_p.S691S			P78424	PO6F2_HUMAN	POU class 6 homeobox 2	691					central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						AAGAAAACTCCTAAAGAGATG	0.433000													5	14					0	0	0.000602214	0	0
GRIN2C	2905	broad.mit.edu	37	17	72842259	72842259	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:72842259C>T	ENST00000293190.5	-	11	2442	c.2296G>A	c.(2296-2298)Gac>Aac	p.D766N	GRIN2C_ENST00000347612.4_Missense_Mutation_p.D766N	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	766					glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)	CAGTGGGAGTCCTTCTGCATG	0.622000													17	60					0	0	0.00121646	0	0
DNAH5	1767	broad.mit.edu	37	5	13944539	13944539	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:13944539C>T	ENST00000265104.4	-	1	113	c.9G>A	c.(7-9)agG>agA	p.R3R		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3	Stem (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)					TCCTCCCAATCCTAAACATTG	0.483000									Kartagener syndrome				5	37					0	0	0.00116845	0	0
COL4A6	1288	broad.mit.edu	37	X	107431774	107431774	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:107431774C>T	ENST00000334504.7	-	21	1793	c.1560G>A	c.(1558-1560)ggG>ggA	p.G520G	COL4A6_ENST00000538570.1_Silent_p.G520G|COL4A6_ENST00000394872.2_Silent_p.G521G|COL4A6_ENST00000372216.4_Silent_p.G521G|COL4A6_ENST00000545689.1_Silent_p.G520G	NM_033641.2	NP_378667.1	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	521	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						CCTGTGCACCCCCAGAGCCTC	0.582000									Alport syndrome with Diffuse Leiomyomatosis				6	18					0	0	0.000274275	0	0
UBE4B	10277	broad.mit.edu	37	1	10166332	10166332	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:10166332C>T	ENST00000343090.6	+	7	962	c.887C>T	c.(886-888)cCt>cTt	p.P296L	UBE4B_ENST00000377157.3_Intron|UBE4B_ENST00000253251.8_Intron	NM_001105562.2	NP_001099032.1	O95155	UBE4B_HUMAN	ubiquitination factor E4B	296					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		CTTGCCTCACCTTCCCGTGCA	0.597000													17	26					0	0	0.00074312	0	0
CSMD1	64478	broad.mit.edu	37	8	3165249	3165249	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:3165249C>A	ENST00000602557.1	-	26	4476	c.3921G>T	c.(3919-3921)tgG>tgT	p.W1307C	CSMD1_ENST00000537824.1_Missense_Mutation_p.W1306C|CSMD1_ENST00000542608.1_Missense_Mutation_p.W1306C|CSMD1_ENST00000539096.1_Missense_Mutation_p.W1306C|CSMD1_ENST00000400186.3_Missense_Mutation_p.W1307C|CSMD1_ENST00000520002.1_Missense_Mutation_p.W1307C|CSMD1_ENST00000602723.1_Missense_Mutation_p.W1307C			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1307	CUB 8.					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)		CCTCTATAATCCAGGTGCAGT	0.453000													21	123					3.28513e-13	9.60419e-13	0.00395357	1	0
TSPAN7	7102	broad.mit.edu	37	X	38525511	38525511	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:38525511G>A	ENST00000378482.2	+	2	395	c.218G>A	c.(217-219)gGc>gAc	p.G73D	TSPAN7_ENST00000488893.1_3'UTR|TSPAN7_ENST00000422612.2_Missense_Mutation_p.G99D|TM4SF2_ENST00000465127.1_Missense_Mutation_p.G103D|TSPAN7_ENST00000545599.1_Missense_Mutation_p.G47D|TSPAN7_ENST00000286824.6_Missense_Mutation_p.G90D	NM_004615.3	NP_004606.2	P41732	TSN7_HUMAN	tetraspanin 7	73					interspecies interaction between organisms	integral to plasma membrane				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	11						GTTGTCTTTGGCCTGTTTGGA	0.443000													10	54					0	0	0.00136819	0	0
MAPK15	225689	broad.mit.edu	37	8	144803264	144803264	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:144803264C>T	ENST00000338033.4	+	10	1131	c.1012C>T	c.(1012-1014)Cgc>Tgc	p.R338C		NM_139021.2	NP_620590.2	Q8TD08	MK15_HUMAN	mitogen-activated protein kinase 15	338					protein autophosphorylation	extracellular region	ATP binding|MAP kinase activity|SH3 domain binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12	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)			GTACCGCAGCCGCGTCTATCA	0.657000													4	6					0	0	0.00024832	0	0
DDX55	57696	broad.mit.edu	37	12	124093275	124093275	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:124093275G>A	ENST00000238146.4	+	6	500	c.450G>A	c.(448-450)cgG>cgA	p.R150R	DDX55_ENST00000538744.1_Silent_p.R150R	NM_020936.1	NP_065987.1	Q8NHQ9	DDX55_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 55	150	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|RNA binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)		ACATGTTCCGGAGGAAGGCCG	0.527000													26	81					0	0	0.00127121	0	0
INSRR	3645	broad.mit.edu	37	1	156814322	156814322	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:156814322A>G	ENST00000368195.3	-	14	3065	c.2669T>C	c.(2668-2670)gTt>gCt	p.V890A	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	890	Fibronectin type-III 3.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GGTTGCCCTAACCCTGGCAGA	0.567000													8	28					0	0	0.00307968	0	0
LRP1B	53353	broad.mit.edu	37	2	141641546	141641546	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:141641546G>A	ENST00000389484.3	-	25	4980	c.4009C>T	c.(4009-4011)Cca>Tca	p.P1337S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1337					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.P1337S(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AGGCCTTCTGGAGTAGCCAGG	0.473000										TSP Lung(27;0.18)			13	46					0	0	0.00316338	0	0
SYNRG	11276	broad.mit.edu	37	17	35914040	35914040	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:35914040G>A	ENST00000339208.6	-	14	1925	c.1785C>T	c.(1783-1785)ttC>ttT	p.F595F	SYNRG_ENST00000502449.2_Silent_p.F517F|SYNRG_ENST00000585472.1_Silent_p.F516F|SYNRG_ENST00000345615.4_Silent_p.F517F|SYNRG_ENST00000394378.2_Silent_p.F517F|SYNRG_ENST00000588194.1_5'UTR|SYNRG_ENST00000346661.4_Silent_p.F595F|SYNRG_ENST00000591288.1_Silent_p.F434F	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	595	Interaction with A1P1G1 and A1P1G2.				endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TTCCTGAGGGGAAGGATGGTG	0.418000													19	90					0	0	0.00121646	0	0
STAB2	55576	broad.mit.edu	37	12	104089598	104089598	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:104089598C>T	ENST00000388887.2	+	33	3762	c.3558C>T	c.(3556-3558)atC>atT	p.I1186I		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	1186	FAS1 4.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						AGAATTACATCAGGGAGAAGA	0.398000													9	60					0	0	0.000978159	0	0
OR56B1	387748	broad.mit.edu	37	11	5757749	5757749	+	Translation_Start_Site	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:5757749G>A	ENST00000317121.3	+	1	69	c.3G>A	c.(1-3)atG>atA	p.M1I	TRIM5_ENST00000380027.1_Intron	NM_001005180.2	NP_001005180.1	Q8NGI3	O56B1_HUMAN	olfactory receptor, family 56, subfamily B, member 1	1					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)		GTTGAATCATGAATCATATGT	0.388000													17	50					0	0	0.00121646	0	0
MYH7	4625	broad.mit.edu	37	14	23898176	23898176	+	Silent	SNP	G	G	A	rs45508293	byFrequency	TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:23898176G>A	ENST00000355349.3	-	14	1557	c.1395C>T	c.(1393-1395)ttC>ttT	p.F465F		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	465	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.F465F(2)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CGAAGATCTCGAAGCCAGCGA	0.542000													13	13					0	0	0.00316338	0	0
OR5D18	219438	broad.mit.edu	37	11	55587330	55587330	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:55587330C>T	ENST00000333976.4	+	1	245	c.225C>T	c.(223-225)tcC>tcT	p.S75S		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	75					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				TCTGCTATTCCTCCATCATTG	0.403000													24	109					0	0	0.00395357	0	0
KLHL3	26249	broad.mit.edu	37	5	136964127	136964127	+	Splice_Site	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:136964127C>T	ENST00000508657.1	-	13	2069		c.e13-1		KLHL3_ENST00000506491.1_Splice_Site|KLHL3_ENST00000506873.1_Splice_Site|KLHL3_ENST00000541417.1_Splice_Site|KLHL3_ENST00000309755.4_Splice_Site	NM_001257194.1	NP_001244123.1	Q9UH77	KLHL3_HUMAN	kelch-like family member 3							cytoplasm|cytoskeleton	actin binding|structural molecule activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)	21		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)		ACTCCAACCCCTGAAAGGCAG	0.562000													10	45					0	0	0.00185496	0	0
UBASH3B	84959	broad.mit.edu	37	11	122665459	122665459	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:122665459G>A	ENST00000284273.5	+	7	1405	c.1030G>A	c.(1030-1032)Gat>Aat	p.D344N		NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing B	344						cytoplasm|nucleus	protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		CACGTTTGGGGATGGAGTATT	0.502000													26	110					0	0	0.000878237	0	0
CDH2	1000	broad.mit.edu	37	18	25585831	25585831	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:25585831G>A	ENST00000269141.3	-	6	1252	c.829C>T	c.(829-831)Cct>Tct	p.P277S	CDH2_ENST00000399380.3_Missense_Mutation_p.P246S	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	277	Cadherin 2.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GATCCCTCAGGAACTGTCCCA	0.398000													60	31					0	0	0.00361006	0	0
RPRD1A	55197	broad.mit.edu	37	18	33606972	33606972	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:33606972T>A	ENST00000399022.4	-	6	851	c.680A>T	c.(679-681)aAt>aTt	p.N227I	RPRD1A_ENST00000337059.5_Missense_Mutation_p.N191I|RPRD1A_ENST00000590898.1_Missense_Mutation_p.N191I|RPRD1A_ENST00000319040.6_Missense_Mutation_p.N227I|RPRD1A_ENST00000588737.1_Missense_Mutation_p.N191I|RPRD1A_ENST00000357384.4_Missense_Mutation_p.N227I	NM_018170.3	NP_060640.2	Q96P16	RPR1A_HUMAN	regulation of nuclear pre-mRNA domain containing 1A	227										NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(2)	12						CAATCTGCCATTGTAATCTGC	0.393000													22	71					0	0	0.00188189	0	0
FOXK2	3607	broad.mit.edu	37	17	80540674	80540674	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:80540674C>T	ENST00000335255.5	+	5	1141	c.967C>T	c.(967-969)Cag>Tag	p.Q323*		NM_004514.3	NP_004505.2	Q01167	FOXK2_HUMAN	forkhead box K2	323					embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	17	Breast(20;0.00106)|all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)			GCCGCGTTCCCAGGAAGAACC	0.423000													23	32					0	0	0.00395357	0	0
ABHD5	51099	broad.mit.edu	37	3	43744062	43744062	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:43744062G>A	ENST00000458276.2	+	3	612	c.489G>A	c.(487-489)tcG>tcA	p.S163S		NM_016006.4	NP_057090.2	Q8WTS1	ABHD5_HUMAN	abhydrolase domain containing 5	163					cell differentiation|fatty acid metabolic process|negative regulation of sequestering of triglyceride|phosphatidic acid biosynthetic process|positive regulation of triglyceride catabolic process|triglyceride catabolic process	cytosol|lipid particle	1-acylglycerol-3-phosphate O-acyltransferase activity|lysophosphatidic acid acyltransferase activity			kidney(3)|large_intestine(2)|liver(2)|lung(5)|ovary(1)|skin(1)	14		Renal(3;0.0134)		KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0687)		CTGCTTACTCGCTGAAGTACC	0.463000													34	60					0	0	0.00111076	0	0
FABP12	646486	broad.mit.edu	37	8	82441702	82441702	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:82441702C>T	ENST00000360464.4	-	2	279	c.217G>A	c.(217-219)Gaa>Aaa	p.E73K	RP11-257P3.3_ENST00000523380.1_RNA	NM_001105281.1	NP_001098751.1	A6NFH5	FBP12_HUMAN	fatty acid binding protein 12	73							lipid binding|transporter activity			large_intestine(1)|lung(3)	4						GGCGTGATTTCCTCAAACTCT	0.403000													26	237					0	0	0.00283554	0	0
ZNF425	155054	broad.mit.edu	37	7	148800740	148800740	+	Silent	SNP	A	A	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:148800740A>G	ENST00000378061.2	-	4	2355	c.2223T>C	c.(2221-2223)atT>atC	p.I741I		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	741					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CATGCACTGCAATGTGGGTCT	0.582000													4	38					0	0	0.00024832	0	0
TOM1	10043	broad.mit.edu	37	22	35717965	35717965	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr22:35717965C>A	ENST00000411850.1	+	3	276	c.151C>A	c.(151-153)Ctc>Atc	p.L51I	TOM1_ENST00000382034.5_5'UTR|TOM1_ENST00000436462.2_Intron|TOM1_ENST00000449058.2_Missense_Mutation_p.L51I|TOM1_ENST00000425375.1_Missense_Mutation_p.L51I|TOM1_ENST00000447733.1_Missense_Mutation_p.L18I	NM_001135732.1	NP_001129204.1	O60784	TOM1_HUMAN	target of myb1 (chicken)	51	VHS.				endocytosis|endosome transport|intracellular protein transport	cytosol|early endosome|membrane	protein binding			NS(1)|breast(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)	19						CAAAGATGCCCTCCGAGCAGT	0.512000													16	30					8.04996e-18	2.35569e-17	0.00188189	1	0
OR10A5	144124	broad.mit.edu	37	11	6867535	6867535	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:6867535G>A	ENST00000299454.4	+	1	653	c.622G>A	c.(622-624)Gtc>Atc	p.V208I	OR10A5_ENST00000379831.2_Missense_Mutation_p.V212I			Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A, member 5	208					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CATTCTGGTGGTCATGATCCC	0.512000													13	76					0	0	0.00244969	0	0
BNIPL	149428	broad.mit.edu	37	1	151016195	151016195	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:151016195G>A	ENST00000295294.7	+	7	1206	c.597G>A	c.(595-597)ctG>ctA	p.L199L	BNIPL_ENST00000368931.3_Silent_p.L281L	NM_001159642.1	NP_001153114.1	Q7Z465	BNIPL_HUMAN	BCL2/adenovirus E1B 19kD interacting protein like	281	CRAL-TRIO.				apoptosis|induction of apoptosis|negative regulation of cell proliferation|regulation of growth rate	cytosol|nucleus	identical protein binding			autonomic_ganglia(1)|endometrium(3)|large_intestine(1)|lung(4)|skin(1)	10	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			ACCGTACCCTGGATCGGCGGT	0.458000													11	53					0	0	0.00316338	0	0
VILL	50853	broad.mit.edu	37	3	38040892	38040892	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:38040892C>T	ENST00000283713.6	+	11	1410	c.1144C>T	c.(1144-1146)Cag>Tag	p.Q382*	VILL_ENST00000383759.2_Nonsense_Mutation_p.Q382*|VILL_ENST00000465644.1_Nonsense_Mutation_p.Q100*			O15195	VILL_HUMAN	villin-like	382					actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		GTTAGCGGCCCAGCTCAGGAT	0.592000													12	41					0	0	0.00400662	0	0
TRAJ20	28735	broad.mit.edu	37	14	22993312	22993312	+	RNA	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:22993312G>A	ENST00000390517.1	+	0	17																											ACGACTACAAGCTCAGCTTTG	0.468000													3	2					0	0	0.000602214	0	0
NRD1	4898	broad.mit.edu	37	1	52283802	52283802	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:52283802G>A	ENST00000354831.7	-	12	1690	c.1501C>T	c.(1501-1503)Cca>Tca	p.P501S	NRD1_ENST00000544028.1_Missense_Mutation_p.P301S|NRD1_ENST00000352171.7_Missense_Mutation_p.P433S|NRD1_ENST00000539524.1_Missense_Mutation_p.P369S|NRD1_ENST00000485608.1_5'UTR	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	432					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						TTTCTGATTGGAACAACTAAA	0.323000													8	28					0	0	0.00307968	0	0
TSNAXIP1	55815	broad.mit.edu	37	16	67861275	67861275	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:67861275G>A	ENST00000388833.3	+	14	2003	c.1626G>A	c.(1624-1626)atG>atA	p.M542I	TSNAXIP1_ENST00000415766.3_Missense_Mutation_p.M527I|TSNAXIP1_ENST00000561639.1_Missense_Mutation_p.M596I	NM_018430.2	NP_060900.2	Q2TAA8	TXIP1_HUMAN	translin-associated factor X interacting protein 1	542					cell differentiation|multicellular organismal development|spermatogenesis	perinuclear region of cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|soft_tissue(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)		CACTGTTTATGGAGGTGGGTG	0.622000													5	22					0	0	0.00198382	0	0
SCN5A	6331	broad.mit.edu	37	3	38591907	38591907	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:38591907C>T	ENST00000413689.1	-	28	6149	c.5956G>A	c.(5956-5958)Gat>Aat	p.D1986N	SCN5A_ENST00000333535.4_Missense_Mutation_p.D1986N|SCN5A_ENST00000414099.2_Missense_Mutation_p.D1968N|SCN5A_ENST00000450102.2_Missense_Mutation_p.D1932N|SCN5A_ENST00000449557.2_Missense_Mutation_p.D1932N|SCN5A_ENST00000443581.1_Missense_Mutation_p.D1985N|SCN5A_ENST00000425664.1_Missense_Mutation_p.D1968N|SCN5A_ENST00000451551.2_Missense_Mutation_p.D1932N|SCN5A_ENST00000455624.2_Missense_Mutation_p.D1953N|SCN5A_ENST00000423572.2_Missense_Mutation_p.D1985N	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1986					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	p.D1986N(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	TGGAGGTTATCGCTGGTGGCT	0.607000													10	28					0	0	0.000673444	0	0
SCD5	79966	broad.mit.edu	37	4	83602041	83602041	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:83602041C>T	ENST00000319540.4	-	3	707	c.388G>A	c.(388-390)Gac>Aac	p.D130N	SCD5_ENST00000273908.4_Missense_Mutation_p.D130N	NM_001037582.2	NP_001032671.2	Q86SK9	SCD5_HUMAN	stearoyl-CoA desaturase 5	130					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	13		Colorectal(4;0.0323)|Hepatocellular(203;0.115)				GCTCGGTGGTCCCTGGACCAC	0.582000													7	37					0	0	0.000442599	0	0
BRDT	676	broad.mit.edu	37	1	92446284	92446284	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:92446284G>A	ENST00000370389.2	+	9	2077	c.1153G>A	c.(1153-1155)Gaa>Aaa	p.E385K	BRDT_ENST00000402388.1_Missense_Mutation_p.E458K|BRDT_ENST00000394530.3_Missense_Mutation_p.E412K|BRDT_ENST00000362005.3_Missense_Mutation_p.E458K|BRDT_ENST00000399546.2_Missense_Mutation_p.E458K	NM_001242810.1	NP_001229739.1	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	458					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		GTCTAAAAAGGAAAAGAAAAA	0.323000													45	123					0	0	0.00285205	0	0
TRHDE	29953	broad.mit.edu	37	12	73012738	73012738	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:73012738C>T	ENST00000261180.4	+	13	2350	c.2254C>T	c.(2254-2256)Ctt>Ttt	p.L752F		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	752					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						GAAGGATTTTCTTCCTTGGCA	0.368000													5	35					0	0	0.00307968	0	0
NSUN2	54888	broad.mit.edu	37	5	6620226	6620226	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:6620226G>A	ENST00000264670.6	-	7	1119	c.808C>T	c.(808-810)Cct>Tct	p.P270S	NSUN2_ENST00000539938.1_Missense_Mutation_p.P34S|NSUN2_ENST00000506139.1_Missense_Mutation_p.P235S	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN	NOP2/Sun RNA methyltransferase family, member 2	270						cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						TACCTGCAAGGGACATCACAT	0.408000													7	67					0	0	0.00307968	0	0
DIS3	22894	broad.mit.edu	37	13	73349449	73349449	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr13:73349449A>G	ENST00000377767.4	-	6	987	c.887T>C	c.(886-888)cTt>cCt	p.L296P	DIS3_ENST00000377780.4_Missense_Mutation_p.L266P|DIS3_ENST00000545453.1_Missense_Mutation_p.L134P	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)	296					CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		CTTGGGGAGAAGCTCCACAGC	0.413000										Multiple Myeloma(4;0.011)			12	42					0	0	0.00244969	0	0
MTBP	27085	broad.mit.edu	37	8	121528235	121528235	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:121528235C>T	ENST00000305949.1	+	18	2095	c.2050C>T	c.(2050-2052)Cgt>Tgt	p.R684C		NM_022045.3	NP_071328.2	Q96DY7	MTBP_HUMAN	Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa	684	Interaction with MDM2 (By similarity).				cell cycle arrest					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			TCGTCTTATTCGTTATGAAAC	0.403000													11	50					0	0	0.000978159	0	0
FCRL5	83416	broad.mit.edu	37	1	157490941	157490941	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:157490941C>T	ENST00000361835.3	-	11	2538	c.2381G>A	c.(2380-2382)gGa>gAa	p.G794E	FCRL5_ENST00000461387.1_5'UTR|FCRL5_ENST00000356953.4_Missense_Mutation_p.G794E	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	794	Ig-like C2-type 8.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				CGACCTATTTCCTAGGGTGAC	0.587000													11	53					0	0	0.00185496	0	0
ANXA6	309	broad.mit.edu	37	5	150488021	150488021	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:150488021G>A	ENST00000354546.5	-	23	2002	c.1775C>T	c.(1774-1776)gCc>gTc	p.A592V	ANXA6_ENST00000356496.5_Missense_Mutation_p.A586V|ANXA6_ENST00000377751.5_Missense_Mutation_p.A249V|ANXA6_ENST00000523714.1_Missense_Mutation_p.A560V|ANXA6_ENST00000521512.1_Missense_Mutation_p.A379V	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	annexin A6	592						melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding			endometrium(2)|kidney(1)|lung(9)	12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTTACCAATGGCCACAAATGC	0.517000													43	69					0	0	0.00361006	0	0
CNPPD1	27013	broad.mit.edu	37	2	220040323	220040323	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:220040323G>A	ENST00000409789.1	-	4	677	c.250C>T	c.(250-252)Cat>Tat	p.H84Y	CNPPD1_ENST00000360507.5_Missense_Mutation_p.H84Y			Q9BV87	CNPD1_HUMAN	cyclin Pas1/PHO80 domain containing 1	84					regulation of cyclin-dependent protein kinase activity	integral to membrane	protein kinase binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)	12						CGGGACACATGAGCTACATAT	0.488000													65	75					0	0	0.00361006	0	0
KDR	3791	broad.mit.edu	37	4	55972087	55972087	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:55972087G>A	ENST00000263923.4	-	12	1852	c.1557C>T	c.(1555-1557)atC>atT	p.I519I		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	519	Ig-like C2-type 5.				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)	TTGCCGCTTGGATAACAAGGG	0.493000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			18	65					0	0	0.000958276	0	0
CEP350	9857	broad.mit.edu	37	1	179966020	179966020	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:179966020T>G	ENST00000367607.3	+	6	1146	c.728T>G	c.(727-729)aTg>aGg	p.M243R		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	243						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						GTGAATAACATGGCCCATGAT	0.388000													9	49					0	0	0.000442599	0	0
IGSF1	3547	broad.mit.edu	37	X	130413299	130413299	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:130413299C>T	ENST00000370904.1	-	16	2546	c.1636G>A	c.(1636-1638)Gga>Aga	p.G546R	IGSF1_ENST00000361420.3_Missense_Mutation_p.G555R|IGSF1_ENST00000370910.1_Missense_Mutation_p.G546R|IGSF1_ENST00000370903.3_Missense_Mutation_p.G555R			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	555					regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						TGAGCTGTTCCCAGCAACCAG	0.582000													10	24					0	0	0.00136819	0	0
HNRNPL	3191	broad.mit.edu	37	19	39336546	39336546	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:39336546C>T	ENST00000221419.5	-	3	937	c.571G>A	c.(571-573)Gtg>Atg	p.V191M	HNRNPL_ENST00000600873.1_Missense_Mutation_p.V58M	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	191					nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			ACACTGTTCACGCTCCGGGAG	0.522000													22	69					0	0	0.00278032	0	0
PYGO2	90780	broad.mit.edu	37	1	154932050	154932050	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:154932050G>A	ENST00000368457.2	-	3	597	c.426C>T	c.(424-426)ggC>ggT	p.G142G	PYGO2_ENST00000368456.1_Silent_p.G105G	NM_138300.3	NP_612157.1	Q9BRQ0	PYGO2_HUMAN	pygopus family PHD finger 2	142	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding|zinc ion binding			endometrium(2)|large_intestine(2)|lung(3)|skin(2)|urinary_tract(1)	10	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TGAAAGCAGGGCCCATAGGAT	0.637000													5	34					0	0	0.00116845	0	0
NGEF	25791	broad.mit.edu	37	2	233785141	233785141	+	Silent	SNP	C	C	T	rs146092866		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:233785141C>T	ENST00000264051.3	-	5	959	c.681G>A	c.(679-681)ccG>ccA	p.P227P	NGEF_ENST00000373552.4_Silent_p.P135P|NGEF_ENST00000409079.1_Silent_p.P135P	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	227	Regulatory region; modulates activity toward RHOA, RAC1 and CDC42 (By similarity).				apoptosis|cell differentiation|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	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		GTGGGCTGGCCGGctcctcct	0.592000													16	36					0	0	0.00400662	0	0
DNAH11	8701	broad.mit.edu	37	7	21892148	21892148	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:21892148C>T	ENST00000328843.6	+	68	11012	c.10981C>T	c.(10981-10983)Ctt>Ttt	p.L3661F	DNAH11_ENST00000409508.3_Missense_Mutation_p.L3654F			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3661	AAA 5 (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						AGACGATCTCCTTTTGCGCCT	0.433000									Kartagener syndrome				6	76					0	0	0.00198382	0	0
MAEL	84944	broad.mit.edu	37	1	166958983	166958983	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:166958983G>A	ENST00000367872.4	+	2	386	c.142G>A	c.(142-144)Gag>Aag	p.E48K	MAEL_ENST00000367870.2_Intron	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	48					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						GCTTCTGAGGGAGGAAGAAAA	0.547000													10	61					0	0	0.000442599	0	0
MIR518A1	574488	broad.mit.edu	37	19	54234313	54234313	+	RNA	SNP	A	A	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:54234313A>T	ENST00000385068.1	+	0	54					NR_030210.1																						AAGAAGAGAAAGCGCTTCCCT	0.453000													12	64					0	0	0.000978159	0	0
ABCC8	6833	broad.mit.edu	37	11	17483349	17483349	+	Silent	SNP	C	C	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:17483349C>G	ENST00000302539.4	-	5	728	c.603G>C	c.(601-603)ccG>ccC	p.P201P	ABCC8_ENST00000389817.3_Silent_p.P201P	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	201					carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	TCACCTCCCTCGGTGTCTTGA	0.577000													25	137					0	0	0.000720815	0	0
TMEM57	55219	broad.mit.edu	37	1	25773355	25773355	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:25773355C>T	ENST00000374343.4	+	2	362	c.183C>T	c.(181-183)ttC>ttT	p.F61F	TMEM57_ENST00000399763.3_Intron|TMEM57_ENST00000399766.3_Silent_p.F61F	NM_018202.4	NP_060672.2	Q8N5G2	MACOI_HUMAN	transmembrane protein 57	61						axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part				breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		TCTGGCTTTTCATCAGAAGCG	0.438000													17	49					0	0	0.00121646	0	0
TM9SF4	9777	broad.mit.edu	37	20	30745606	30745606	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:30745606C>T	ENST00000217315.5	+	14	1628	c.1288C>T	c.(1288-1290)Ccc>Tcc	p.P430S	TM9SF4_ENST00000398022.2_Missense_Mutation_p.P447S			Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	447						integral to membrane				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GGTGCCCTTTCCCACCATGGT	0.627000													29	54					0	0	0.00428921	0	0
CHN1	1123	broad.mit.edu	37	2	175665002	175665002	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:175665002C>T	ENST00000409900.3	-	13	1535	c.1222G>A	c.(1222-1224)Gaa>Aaa	p.E408K	CHN1_ENST00000409597.1_Missense_Mutation_p.E224K|CHN1_ENST00000409156.3_Missense_Mutation_p.E382K|CHN1_ENST00000295497.7_Missense_Mutation_p.E283K|CHN1_ENST00000488080.1_5'UTR	NM_001822.5	NP_001813.1	P15882	CHIN_HUMAN	chimerin 1	408	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.226)			TTCTCCTTTTCGTGGAGGGTC	0.403000			T	TAF15	extraskeletal myxoid chondrosarcoma								25	71					0	0	0.000878237	0	0
DRD1	1812	broad.mit.edu	37	5	174869174	174869174	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:174869174G>A	ENST00000393752.2	-	2	1921	c.929C>T	c.(928-930)tCc>tTc	p.S310F		NM_000794.3	NP_000785.1	P21728	DRD1_HUMAN	dopamine receptor D1	310					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|membrane fraction	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)	AAAGGTGTTGGAATCAATGCA	0.463000													7	33					0	0	0.00307968	0	0
PPAN-P2RY11	692312	broad.mit.edu	37	19	10221728	10221728	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:10221728C>T	ENST00000428358.1	+	12	1481	c.1309C>T	c.(1309-1311)Ccc>Tcc	p.P437S	PPAN_ENST00000253107.7_Missense_Mutation_p.P437S|PPAN_ENST00000393793.1_Missense_Mutation_p.P384S|PPAN-P2RY11_ENST00000393796.4_Intron|PPAN_ENST00000556468.1_Intron	NM_001040664.2|NM_001198690.1	NP_001035754.1|NP_001185619.1	Q9NQ55	SSF1_HUMAN		437					RNA splicing	nucleolus	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	31			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)			CCAGAAGTTTCCCAAGACCAA	0.687000													9	18					0	0	0.000673444	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142482271	142482271	+	RNA	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:142482271C>T	ENST00000603901.1	+	0	651					NR_001296.3																						TCTCCTGGGGCTATGGCTGTG	0.517000													5	37					0	0	0.00116845	0	0
INSIG1	3638	broad.mit.edu	37	7	155094039	155094039	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:155094039C>T	ENST00000340368.4	+	4	827	c.616C>T	c.(616-618)Cgt>Tgt	p.R206C	INSIG1_ENST00000342407.5_Intron|INSIG1_ENST00000344756.4_Missense_Mutation_p.R54C	NM_005542.4	NP_005533.2	O15503	INSI1_HUMAN	insulin induced gene 1	206					cell proliferation|ER-nuclear sterol response pathway	endoplasmic reticulum membrane|integral to membrane	protein binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	19	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GACATTTGATCGTTCCAGAAG	0.443000													15	115					0	0	0.000566183	0	0
OR1S2	219958	broad.mit.edu	37	11	57971349	57971349	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:57971349C>T	ENST00000302592.6	-	1	304	c.305G>A	c.(304-306)aGc>aAc	p.S102N		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	102					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				GATGGATTGGCTGTTGGTTTG	0.448000													12	43					0	0	0.000978159	0	0
PPP1R16A	84988	broad.mit.edu	37	8	145725921	145725921	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:145725921G>A	ENST00000292539.4	+	7	1674	c.757G>A	c.(757-759)Gaa>Aaa	p.E253K	PPP1R16A_ENST00000435887.1_Missense_Mutation_p.E253K			Q96I34	PP16A_HUMAN	protein phosphatase 1, regulatory subunit 16A	253						plasma membrane	protein binding			NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CCTGCTGCTGGAACACCGAGC	0.711000													7	12					0	0	0.000274275	0	0
DNAH17	8632	broad.mit.edu	37	17	76492064	76492064	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:76492064G>A	ENST00000389840.5	-	38	5878	c.5754C>T	c.(5752-5754)ttC>ttT	p.F1918F	DNAH17_ENST00000585328.1_Silent_p.F1927F|RP11-559N14.5_ENST00000591373.1_RNA					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)			TCTCTCCCAGGAAATTGAATG	0.517000													13	50					0	0	0.00136819	0	0
ANK2	287	broad.mit.edu	37	4	114262906	114262906	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:114262906G>A	ENST00000357077.4	+	33	4009	c.3956G>A	c.(3955-3957)aGa>aAa	p.R1319K	ANK2_ENST00000506722.1_Missense_Mutation_p.R1310K|ANK2_ENST00000394537.3_Missense_Mutation_p.R1319K|ANK2_ENST00000509550.1_Missense_Mutation_p.R495K|ANK2_ENST00000264366.6_Missense_Mutation_p.R1286K|ANK2_ENST00000504887.1_3'UTR	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1286					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CAAGTATACAGAGAAATTATC	0.373000													29	73					0	0	0.00209593	0	0
TTN	7273	broad.mit.edu	37	2	179597628	179597628	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:179597628C>T	ENST00000589042.1	-	55	16499	c.16275G>A	c.(16273-16275)ggG>ggA	p.G5425G	TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Silent_p.G4181G|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Silent_p.G5108G|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5108	Ig-like 35.						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)			AAGTGAAATTCCCTGCATCAT	0.453000													4	6					0	0	0.000602214	0	0
OR10A5	144124	broad.mit.edu	37	11	6867534	6867534	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:6867534G>A	ENST00000299454.4	+	1	652	c.621G>A	c.(619-621)gtG>gtA	p.V207V	OR10A5_ENST00000379831.2_Silent_p.V211V			Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A, member 5	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CCATTCTGGTGGTCATGATCC	0.507000													13	72					0	0	0.00244969	0	0
NPC1L1	29881	broad.mit.edu	37	7	44553248	44553248	+	Splice_Site	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:44553248C>T	ENST00000289547.4	-	20	3933	c.3877_splice	c.e20-1	p.G1293_splice	NPC1L1_ENST00000381160.3_Splice_Site_p.G1266_splice|NPC1L1_ENST00000546276.1_Splice_Site_p.G1220_splice	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	1293					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	AACGTCAGGCCCTGCGGAGAG	0.612000													6	38					0	0	0.00198382	0	0
PCDHB3	56132	broad.mit.edu	37	5	140482081	140482081	+	Silent	SNP	C	C	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:140482081C>G	ENST00000231130.2	+	1	1848	c.1848C>G	c.(1846-1848)ggC>ggG	p.G616G		NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		616	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGCTGTTCGGCGTGTGGGCGC	0.687000													12	48					0	0	0.00316338	0	0
PARP1	142	broad.mit.edu	37	1	226562050	226562050	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:226562050T>G	ENST00000366794.5	-	14	2090	c.1947A>C	c.(1945-1947)gaA>gaC	p.E649D		NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	649					cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		TCACTGCCTCTTCATCCTTCA	0.478000								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					10	54					0	0	0.000673444	0	0
OR5D13	390142	broad.mit.edu	37	11	55541386	55541386	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:55541386C>T	ENST00000361760.1	+	1	473	c.473C>T	c.(472-474)tCc>tTc	p.S158F		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				ATAGTGTGCTCCCTGATACTC	0.408000													10	52					0	0	0.000673444	0	0
FAM193A	8603	broad.mit.edu	37	4	2695381	2695381	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:2695381C>T	ENST00000324666.5	+	14	2350	c.1999C>T	c.(1999-2001)Ccc>Tcc	p.P667S	FAM193A_ENST00000505311.1_Missense_Mutation_p.P667S|FAM193A_ENST00000545951.1_Missense_Mutation_p.P667S|FAM193A_ENST00000502458.1_Missense_Mutation_p.P689S|FAM193A_ENST00000382839.3_Missense_Mutation_p.P667S	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	667										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						GAGGAATAGCCCCACGGGCTT	0.637000													21	61					0	0	0.00278032	0	0
KLK5	25818	broad.mit.edu	37	19	51452217	51452217	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:51452217G>A	ENST00000336334.3	-	4	842	c.490C>T	c.(490-492)Cgt>Tgt	p.R164C	KLK5_ENST00000391809.2_Missense_Mutation_p.R164C|KLK5_ENST00000593428.1_Missense_Mutation_p.R164C	NM_012427.4	NP_036559.1	Q9Y337	KLK5_HUMAN	kallikrein-related peptidase 5	164	Peptidase S1.				epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity	p.R164C(1)		NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		TTAGTGGGACGAATTCTTCTG	0.547000													7	35					0	0	0.00307968	0	0
FAM26E	254228	broad.mit.edu	37	6	116836826	116836826	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:116836826C>T	ENST00000368599.3	+	2	655	c.604C>T	c.(604-606)Cgc>Tgc	p.R202C	TRAPPC3L_ENST00000368602.3_Intron	NM_153711.2	NP_714922.1	Q8N5C1	FA26E_HUMAN	family with sequence similarity 26, member E	202						integral to membrane		p.R202C(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7		all_cancers(87;0.0608)|all_epithelial(87;0.05)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0242)|all cancers(137;0.0419)|OV - Ovarian serous cystadenocarcinoma(136;0.0671)|Epithelial(106;0.212)		ATGTTATGCTCGCTGCCGATC	0.413000													12	35					0	0	0.00185496	0	0
CGNL1	84952	broad.mit.edu	37	15	57730232	57730232	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:57730232A>C	ENST00000281282.5	+	2	113	c.35A>C	c.(34-36)cAg>cCg	p.Q12P		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	12	Head.					myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		CAACATGTGCAGCAGGAATAT	0.468000													36	112					0	0	0.00148497	0	0
PADI3	51702	broad.mit.edu	37	1	17603141	17603141	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:17603141C>T	ENST00000375460.3	+	12	1475	c.1435C>T	c.(1435-1437)Cct>Tct	p.P479S		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	479					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)	GAGCTTTGTCCCTGCCCCCGA	0.612000													9	51					0	0	0.00136819	0	0
FGD6	55785	broad.mit.edu	37	12	95501342	95501342	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:95501342G>A	ENST00000343958.4	-	12	3553	c.3330C>T	c.(3328-3330)ttC>ttT	p.F1110F	FGD6_ENST00000546711.1_Silent_p.F1110F|FGD6_ENST00000549499.1_Silent_p.F1110F	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	1110	PH 1.				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						CTCTTACCAGGAAAAACATTC	0.423000													8	30					0	0	0.000673444	0	0
OR13C8	138802	broad.mit.edu	37	9	107331529	107331529	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:107331529C>T	ENST00000335040.1	+	1	81	c.81C>T	c.(79-81)ttC>ttT	p.F27F		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	27					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						AGACAGTTTTCTTCGTTCTAA	0.433000													17	62					0	0	0.000566183	0	0
ISPD	729920	broad.mit.edu	37	7	16255819	16255819	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:16255819G>A	ENST00000407010.2	-	9	1122	c.1123C>T	c.(1123-1125)Cat>Tat	p.H375Y	AC004741.3_ENST00000438573.1_RNA|AC004741.3_ENST00000579293.1_RNA|AC004741.3_ENST00000582683.1_RNA|AC004741.3_ENST00000457112.1_RNA|ISPD_ENST00000399310.3_Missense_Mutation_p.H325Y	NM_001101426.3	NP_001094896.1	A4D126	ISPD_HUMAN	isoprenoid synthase domain containing	375					isoprenoid biosynthetic process		nucleotidyltransferase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9						TCAAGAAAATGAACCTGCAAA	0.299000										Multiple Myeloma(15;0.18)			5	31					0	0	0.000602214	0	0
ZFP37	7539	broad.mit.edu	37	9	115806392	115806392	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:115806392G>A	ENST00000374227.3	-	4	533	c.506C>T	c.(505-507)cCt>cTt	p.P169L	ZFP37_ENST00000555206.1_Missense_Mutation_p.P170L|ZFP37_ENST00000553380.1_Missense_Mutation_p.P184L			Q9Y6Q3	ZFP37_HUMAN	ZFP37 zinc finger protein	169						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						TTTCTTTGAAGGAACATGTTT	0.338000													20	33					0	0	0.00152264	0	0
C8A	731	broad.mit.edu	37	1	57378226	57378226	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:57378226G>A	ENST00000361249.3	+	10	1627	c.1531G>A	c.(1531-1533)Gag>Aag	p.E511K		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	511	EGF-like.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						GCCCATCCTCGAGGGCACCAG	0.612000													8	41					0	0	0.000274275	0	0
AMER3	205147	broad.mit.edu	37	2	131520728	131520728	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:131520728C>T	ENST00000423981.1	+	2	1193	c.1083C>T	c.(1081-1083)ggC>ggT	p.G361G	AMER3_ENST00000321420.4_Silent_p.G361G	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2			APC membrane recruitment protein 3																		CTCGCAGCGGCTCCAAAGCCA	0.652000													9	13					0	0	0.000673444	0	0
STAR	6770	broad.mit.edu	37	8	38005786	38005786	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:38005786C>T	ENST00000276449.4	-	3	684	c.238G>A	c.(238-240)Gag>Aag	p.E80K		NM_000349.2	NP_000340.2	P49675	STAR_HUMAN	steroidogenic acute regulatory protein	80	START.				C21-steroid hormone biosynthetic process	mitochondrial intermembrane space	cholesterol transporter activity			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11	Colorectal(12;0.000442)	all_lung(54;0.0151)|Lung NSC(58;0.0295)		READ - Rectum adenocarcinoma(644;0.188)		ATGGCCTCCTCCCCCTGCTGG	0.572000													5	18					0	0	0.00116845	0	0
TXNDC16	57544	broad.mit.edu	37	14	52955155	52955155	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:52955155G>A	ENST00000281741.4	-	12	1405	c.1034C>T	c.(1033-1035)tCt>tTt	p.S345F	TXNDC16_ENST00000554399.1_Intron	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16	345					cell redox homeostasis	extracellular region				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					TTCCACATGAGATATTATTAA	0.299000													6	27					0	0	0.00116845	0	0
RASSF5	83593	broad.mit.edu	37	1	206757851	206757851	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:206757851G>A	ENST00000304534.8	+	3	773	c.364G>A	c.(364-366)Gac>Aac	p.D122N	RASSF5_ENST00000367117.3_Missense_Mutation_p.D275N|RASSF5_ENST00000491368.1_3'UTR|RASSF5_ENST00000355294.4_Missense_Mutation_p.D275N|EIF2D_ENST00000472709.2_Intron|RASSF5_ENST00000338603.2_Missense_Mutation_p.D275N	NM_182665.2	NP_872606.1	Q8WWW0	RASF5_HUMAN	Ras association (RalGDS/AF-6) domain family member 5	275					apoptosis|intracellular signal transduction	cytoplasm|microtubule	metal ion binding|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	8	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			GGCTACCACGGACAAGCGGAC	0.597000													25	48					0	0	0.001512	0	0
GRIN1	2902	broad.mit.edu	37	9	140059743	140059743	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:140059743G>A	ENST00000371561.3	+	19	3792	c.2695G>A	c.(2695-2697)Gac>Aac	p.D899N	GRIN1_ENST00000371559.4_Intron|GRIN1_ENST00000371550.4_Intron|GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000371546.4_Missense_Mutation_p.D920N|GRIN1_ENST00000371560.3_Intron|GRIN1_ENST00000371553.3_Missense_Mutation_p.D920N|GRIN1_ENST00000315048.3_Missense_Mutation_p.D899N|GRIN1_ENST00000371555.4_Intron|GRIN1_ENST00000350902.5_3'UTR	NM_007327.3	NP_015566.1	Q05586	NMDZ1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 1	899					ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome	calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	GTCCTCCAAAGACACGGTAAG	0.622000													5	19					0	0	0.000602214	0	0
YARS2	51067	broad.mit.edu	37	12	32908768	32908768	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:32908768C>T	ENST00000324868.8	-	1	68	c.41G>A	c.(40-42)tGg>tAg	p.W14*		NM_001040436.2	NP_001035526.1	Q9Y2Z4	SYYM_HUMAN	tyrosyl-tRNA synthetase 2, mitochondrial	14					tyrosyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|RNA binding|tyrosine-tRNA ligase activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	16	Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)				L-Tyrosine(DB00135)	GGTACCAGACCACCGGCCCCA	0.617000											OREG0021729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	25					0	0	0.00116845	0	0
OR8B8	26493	broad.mit.edu	37	11	124310340	124310340	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:124310340G>A	ENST00000328064.2	-	1	714	c.642C>T	c.(640-642)atC>atT	p.I214I		NM_012378.1	NP_036510.1	Q15620	OR8B8_HUMAN	olfactory receptor, family 8, subfamily B, member 8	214					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		AGGAAATGAAGATGGTGACTG	0.493000													5	77					0	0	0.00198382	0	0
BCL2L12	83596	broad.mit.edu	37	19	50169132	50169132	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:50169132C>T	ENST00000246785.3	+	1	310	c.52C>T	c.(52-54)Cgg>Tgg	p.R18W	IRF3_ENST00000377139.3_5'UTR|BCL2L12_ENST00000441864.2_Missense_Mutation_p.R18W|BCL2L12_ENST00000246784.3_Missense_Mutation_p.R18W	NM_001040668.1|NM_138639.1	NP_001035758.1|NP_619580.1	Q9HB09	B2L12_HUMAN	BCL2-like 12 (proline rich)	18					apoptosis					central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	8		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.000681)|GBM - Glioblastoma multiforme(134;0.0214)		TTTGGGTTTCCGGCCAGAGGC	0.577000													5	39					0	0	0.000274275	0	0
MAGEC1	9947	broad.mit.edu	37	X	140996618	140996618	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:140996618G>A	ENST00000285879.4	+	4	3714	c.3428G>A	c.(3427-3429)tGa>tAa	p.*1143*	MAGEC1_ENST00000406005.2_Silent_p.*210*	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	0							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCTTCTGAGTGAAGTCTAGGG	0.527000										HNSCC(15;0.026)			5	23					0	0	0.000602214	0	0
FASN	2194	broad.mit.edu	37	17	80047516	80047516	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:80047516C>T	ENST00000306749.2	-	12	2175	c.1957G>A	c.(1957-1959)Gga>Aga	p.G653R		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	653	Acyl and malonyl transferases (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	ACCTGAGGTCCCGAGATGGTG	0.677000													4	5					0	0	0.000602214	0	0
LRP2	4036	broad.mit.edu	37	2	170093615	170093615	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:170093615C>T	ENST00000263816.3	-	28	4974	c.4689G>A	c.(4687-4689)atG>atA	p.M1563I		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1563					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AGTCTTACTTCATTCTGGGAT	0.368000													24	75					0	0	0.00395357	0	0
KCNIP4	80333	broad.mit.edu	37	4	21698995	21698995	+	Silent	SNP	T	T	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:21698995T>G	ENST00000382148.3	-	1	402	c.66A>C	c.(64-66)ctA>ctC	p.L22L	KCNIP4_ENST00000382152.2_Intron|KCNIP4_ENST00000447367.2_Intron	NM_001035003.1	NP_001030175.1	Q6PIL6	KCIP4_HUMAN	Kv channel interacting protein 4	0	KIS (By similarity).					plasma membrane	calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(46;0.134)				AACCTGTTAATAGTCTGAGAA	0.368000													15	25					0	0	0.000958276	0	0
TTC23	64927	broad.mit.edu	37	15	99759151	99759151	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:99759151G>A	ENST00000394132.2	-	7	1224	c.407C>T	c.(406-408)tCc>tTc	p.S136F	TTC23_ENST00000394130.1_Missense_Mutation_p.S136F|TTC23_ENST00000394129.2_Missense_Mutation_p.S136F|TTC23_ENST00000558663.1_Missense_Mutation_p.S136F|TTC23_ENST00000558613.1_Missense_Mutation_p.S136F|TTC23_ENST00000262074.4_Missense_Mutation_p.S136F|TTC23_ENST00000394135.3_Missense_Mutation_p.S136F|TTC23_ENST00000394136.1_Missense_Mutation_p.S136F			Q5W5X9	TTC23_HUMAN	tetratricopeptide repeat domain 23	136							binding			endometrium(2)|large_intestine(3)|lung(9)|urinary_tract(2)	16	all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215)			AAGCTCAATGGAAAACTTGAA	0.398000													17	93					0	0	0.00074312	0	0
GJA10	84694	broad.mit.edu	37	6	90605509	90605509	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:90605509G>A	ENST00000369352.1	+	1	1322	c.1322G>A	c.(1321-1323)cGa>cAa	p.R441Q		NM_032602.1	NP_115991.1	Q969M2	CXA10_HUMAN	gap junction protein, alpha 10, 62kDa	441					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		TCTGAAAAGCGACATCTGCAC	0.532000													14	36					0	0	0.00400662	0	0
LRRC55	219527	broad.mit.edu	37	11	56949697	56949697	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:56949697C>T	ENST00000497933.1	+	1	477	c.330C>T	c.(328-330)acC>acT	p.T110T		NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	80						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						CAATGGACACCCGAAACCTCA	0.607000													5	14					0	0	0.00198382	0	0
PMFBP1	83449	broad.mit.edu	37	16	72160027	72160027	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:72160027G>A	ENST00000537465.1	-	15	2266	c.2108C>T	c.(2107-2109)gCc>gTc	p.A703V	PMFBP1_ENST00000355636.6_Missense_Mutation_p.A553V|PMFBP1_ENST00000237353.10_Missense_Mutation_p.A698V			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	703										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				CTTCTGAAGGGCTATCTTTAA	0.507000													14	63					0	0	0.00400662	0	0
OR5T2	219464	broad.mit.edu	37	11	55999843	55999843	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:55999843C>T	ENST00000313264.4	-	1	894	c.819G>A	c.(817-819)agG>agA	p.R273R		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	273					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					AGACTTTTCTCCTCCCTTCAG	0.438000													23	36					0	0	0.00395357	0	0
CYP11B1	1584	broad.mit.edu	37	8	143958228	143958228	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:143958228G>A	ENST00000292427.4	-	4	701	c.669C>T	c.(667-669)ttC>ttT	p.F223F	CYP11B1_ENST00000377675.3_Silent_p.F294F|CYP11B1_ENST00000517471.1_Silent_p.F223F	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	223					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	GGGCATGGAGGAAGTTCAGGC	0.607000									Familial Hyperaldosteronism type I				10	36					0	0	0.00316338	0	0
ADORA3	140	broad.mit.edu	37	1	112106515	112106515	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:112106515C>T	ENST00000369717.4	-	1	69	c.60G>A	c.(58-60)tgG>tgA	p.W20*	RAP1A_ENST00000356415.1_Intron	NM_001081976.1	NP_001075445.1	P33765	AA3R_HUMAN	adenosine A3 receptor	0					activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)	GCTGCTCTTCCCAGGAGCTTT	0.557000													20	71					0	0	0.00332997	0	0
GRAMD2	196996	broad.mit.edu	37	15	72455749	72455749	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:72455749G>A	ENST00000309731.7	-	10	827	c.814C>T	c.(814-816)Cct>Tct	p.P272S	GRAMD2_ENST00000564184.1_5'UTR	NM_001012642.2	NP_001012660.1	Q8IUY3	GRAM2_HUMAN	GRAM domain containing 2	272						integral to membrane				cervix(2)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	13						GGGCAGGCAGGACCCCAGCCT	0.532000													32	93					0	0	0.000953801	0	0
DNAH8	1769	broad.mit.edu	37	6	38813489	38813489	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:38813489G>A	ENST00000359357.3	+	34	4588	c.4334G>A	c.(4333-4335)gGa>gAa	p.G1445E	DNAH8_ENST00000441566.1_Missense_Mutation_p.G1445E|DNAH8_ENST00000449981.2_Missense_Mutation_p.G1662E					dynein, axonemal, heavy chain 8									p.G1445E(1)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ACCGAATCGGGAGAAATTATC	0.393000													10	60					0	0	0.000673444	0	0
TOM1	10043	broad.mit.edu	37	22	35717964	35717964	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr22:35717964C>T	ENST00000411850.1	+	3	275	c.150C>T	c.(148-150)gcC>gcT	p.A50A	TOM1_ENST00000382034.5_5'UTR|TOM1_ENST00000436462.2_Intron|TOM1_ENST00000449058.2_Silent_p.A50A|TOM1_ENST00000425375.1_Silent_p.A50A|TOM1_ENST00000447733.1_Silent_p.A17A	NM_001135732.1	NP_001129204.1	O60784	TOM1_HUMAN	target of myb1 (chicken)	50	VHS.				endocytosis|endosome transport|intracellular protein transport	cytosol|early endosome|membrane	protein binding			NS(1)|breast(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)	19						CCAAAGATGCCCTCCGAGCAG	0.512000													17	30					0	0	0.00229938	0	0
KRTAP24-1	643803	broad.mit.edu	37	21	31655091	31655091	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr21:31655091T>G	ENST00000340345.4	-	1	185	c.160A>C	c.(160-162)Aat>Cat	p.N54H		NM_001085455.1	NP_001078924.1	Q3LI83	KR241_HUMAN	keratin associated protein 24-1	54						keratin filament	structural molecule activity			breast(1)|large_intestine(3)|lung(7)|urinary_tract(3)	14						AGCCAGAGATTTCCTTGGTAG	0.493000													11	26					0	0	0.00244969	0	0
SUPT3H	8464	broad.mit.edu	37	6	44922332	44922332	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:44922332G>A	ENST00000371460.1	-	10	943	c.626C>T	c.(625-627)tCc>tTc	p.S209F	SUPT3H_ENST00000371459.1_Missense_Mutation_p.S198F|SUPT3H_ENST00000371461.2_Missense_Mutation_p.S209F|SUPT3H_ENST00000306867.5_Missense_Mutation_p.S198F|SUPT3H_ENST00000371458.1_5'UTR	NM_181356.2	NP_852001.1	O75486	SUPT3_HUMAN	suppressor of Ty 3 homolog (S. cerevisiae)	280					histone deubiquitination|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	STAGA complex|transcription factor TFTC complex	DNA binding|transcription coactivator activity			breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	12						TCGAAATTTGGAAGCTTTTTT	0.333000													20	124					0	0	0.00188189	0	0
DNAH8	1769	broad.mit.edu	37	6	38883028	38883028	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:38883028G>A	ENST00000359357.3	+	66	9618	c.9364G>A	c.(9364-9366)Gaa>Aaa	p.E3122K	DNAH8_ENST00000441566.1_Missense_Mutation_p.E3086K|DNAH8_ENST00000449981.2_Missense_Mutation_p.E3339K					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AATTAAAAATGAAGTACAGGA	0.393000													5	47					0	0	0.00116845	0	0
OOSP2	219990	broad.mit.edu	37	11	59814475	59814475	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:59814475C>T	ENST00000278855.2	+	4	591	c.406C>T	c.(406-408)Cct>Tct	p.P136S		NM_173801.3	NP_776162.2	Q86WS3	PLACL_HUMAN		136						extracellular region				breast(1)|lung(9)|ovary(2)|prostate(2)|skin(1)	15						GGATCCTAGTCCTTTTATTGC	0.383000													19	66					0	0	0.00121646	0	0
PKHD1	5314	broad.mit.edu	37	6	51907681	51907681	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:51907681C>A	ENST00000371117.3	-	27	3348	c.3073G>T	c.(3073-3075)Gag>Tag	p.E1025*	PKHD1_ENST00000340994.4_Nonsense_Mutation_p.E1025*	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1025	IPT/TIG 5.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CTGGAAGGCTCCACCATATCC	0.488000													14	24					1.02788e-11	3.00075e-11	0.000566183	1	0
ZDHHC24	254359	broad.mit.edu	37	11	66307075	66307075	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:66307075G>A	ENST00000310442.3	-	3	1014	c.780C>T	c.(778-780)ccC>ccT	p.P260P	ZDHHC24_ENST00000526986.1_Intron	NM_207340.1	NP_997223.1	Q6UX98	ZDH24_HUMAN	zinc finger, DHHC-type containing 24	260						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(1)|large_intestine(3)|ovary(1)|prostate(1)|skin(1)	7						AGGCCAGGAAGGGCCAGAGCC	0.662000													8	17					0	0	0.000274275	0	0
RYR1	6261	broad.mit.edu	37	19	38976641	38976641	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:38976641C>T	ENST00000355481.4	+	34	5477	c.5346C>T	c.(5344-5346)ttC>ttT	p.F1782F	RYR1_ENST00000359596.3_Silent_p.F1782F|RYR1_ENST00000360985.3_Silent_p.F1782F	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1782	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			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)	CCCCCTGTTTCGTGGCCGCTC	0.682000													5	25					0	0	0.00116845	0	0
SLC38A4	55089	broad.mit.edu	37	12	47178909	47178909	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:47178909T>A	ENST00000447411.1	-	5	584	c.378A>T	c.(376-378)ttA>ttT	p.L126F	SLC38A4_ENST00000266579.4_Missense_Mutation_p.L126F	NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	126					cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					CTGTTTTTAATAAAAGGTGAA	0.343000													8	26					0	0	0.000978159	0	0
ECT2	1894	broad.mit.edu	37	3	172474834	172474834	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:172474834C>T	ENST00000417960.1	+	5	746	c.269C>T	c.(268-270)cCg>cTg	p.P90L	ECT2_ENST00000540509.1_Missense_Mutation_p.P122L|ECT2_ENST00000441497.2_Missense_Mutation_p.P91L|ECT2_ENST00000392692.3_Missense_Mutation_p.P122L|ECT2_ENST00000232458.5_Missense_Mutation_p.P91L|ECT2_ENST00000427830.1_Missense_Mutation_p.P91L	NM_001258316.1	NP_001245245.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming sequence 2 oncogene	91					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			TTGGATTCTCCGGAATTTGAA	0.343000													43	146					0	0	0.00285205	0	0
SLC22A5	6584	broad.mit.edu	37	5	131726450	131726450	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:131726450T>G	ENST00000245407.3	+	7	1342	c.1121T>G	c.(1120-1122)gTg>gGg	p.V374G	SLC22A5_ENST00000479605.1_3'UTR|SLC22A5_ENST00000435065.2_Missense_Mutation_p.V398G	NM_003060.3	NP_003051.1	O76082	S22A5_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 5	374					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)	GACATCTTTGTGAACTGCTTC	0.502000													14	54					0	0	0.00244969	0	0
ZP2	7783	broad.mit.edu	37	16	21215354	21215354	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:21215354C>T	ENST00000574002.1	-	10	1451	c.969G>A	c.(967-969)acG>acA	p.T323T	AF001550.7_ENST00000572747.1_RNA|ZP2_ENST00000219593.4_Silent_p.T323T|ZP2_ENST00000574091.1_Silent_p.T323T			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	323					binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		AACATACTTTCGTTTTGAGCA	0.433000													12	36					0	0	0.00244969	0	0
TUFM	7284	broad.mit.edu	37	16	28856102	28856102	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:28856102C>T	ENST00000313511.3	-	5	739	c.601G>A	c.(601-603)Gag>Aag	p.E201K		NM_003321.4	NP_003312.3	P49411	EFTU_HUMAN	Tu translation elongation factor, mitochondrial	198						mitochondrial nucleoid	GTP binding|GTPase activity|protein binding|translation elongation factor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13						TCCCGGATCTCCAGTTCCACC	0.572000													4	18					0	0	0.00024832	0	0
WBSCR17	64409	broad.mit.edu	37	7	70886063	70886063	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:70886063G>A	ENST00000333538.5	+	5	1568	c.934G>A	c.(934-936)Gac>Aac	p.D312N	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	312						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				AGACTGGTGGGACGCCGGAGA	0.592000													9	26					0	0	0.000274275	0	0
TRPS1	7227	broad.mit.edu	37	8	116599237	116599237	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:116599237G>A	ENST00000395715.3	-	5	3268	c.2691C>T	c.(2689-2691)tcC>tcT	p.S897S	TRPS1_ENST00000520276.1_Silent_p.S888S|TRPS1_ENST00000519076.1_Silent_p.S638S|TRPS1_ENST00000220888.5_Silent_p.S884S|TRPS1_ENST00000519674.1_Silent_p.S884S	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	884					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			CCCGTAACAGGGACTGGGATT	0.493000									Langer-Giedion syndrome				15	65					0	0	0.00400662	0	0
FTO	79068	broad.mit.edu	37	16	53859927	53859927	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:53859927C>T	ENST00000471389.1	+	3	497	c.275C>T	c.(274-276)aCt>aTt	p.T92I	FTO_ENST00000394647.3_Intron	NM_001080432.2	NP_001073901.1	Q9C0B1	FTO_HUMAN	fat mass and obesity associated	92	Fe2OG dioxygenase domain.				DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation|oxidative single-stranded RNA demethylation|RNA repair	nucleus	DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidative DNA demethylase activity|oxidative RNA demethylase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						GATCTGCTCACTCCGGTATCT	0.502000													6	53					0	0	0.00307968	0	0
ATP5C1	509	broad.mit.edu	37	10	7844269	7844269	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:7844269T>G	ENST00000356708.7	+	7	753	c.674T>G	c.(673-675)gTg>gGg	p.V225G	ATP5C1_ENST00000493053.1_3'UTR|ATP5C1_ENST00000335698.4_Missense_Mutation_p.V225G|ATP5C1_ENST00000541227.1_Missense_Mutation_p.V178G	NM_001001973.1	NP_001001973.1	P36542	ATPG_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1	225					oxidative phosphorylation|respiratory electron transport chain	mitochondrial matrix|mitochondrial proton-transporting ATP synthase complex, catalytic core F(1)	hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	16						GATGCTGACGTGCTGCAAAAT	0.403000													6	50					0	0	0.000274275	0	0
HECTD1	25831	broad.mit.edu	37	14	31598272	31598272	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:31598272G>A	ENST00000399332.1	-	25	4793	c.4305C>T	c.(4303-4305)gtC>gtT	p.V1435V	HECTD1_ENST00000553700.1_Silent_p.V1435V	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	1435	Ser-rich.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		CTGTTTGAGGGACGTTTTCAG	0.443000													21	69					0	0	0.00152264	0	0
RAG2	5897	broad.mit.edu	37	11	36615272	36615272	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:36615272C>T	ENST00000311485.3	-	2	608	c.447G>A	c.(445-447)ggG>ggA	p.G149G		NM_000536.3|NM_001243785.1|NM_001243786.1	NP_000527.2|NP_001230714.1|NP_001230715.1	P55895	RAG2_HUMAN	recombination activating gene 2	149					chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination	nucleus	chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				CCATACTTTTCCCTCGGCTGT	0.453000									Familial Hemophagocytic Lymphohistiocytosis				18	88					0	0	0.00152264	0	0
SLC38A10	124565	broad.mit.edu	37	17	79225184	79225184	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:79225184G>A	ENST00000288439.5	-	14	2519	c.2174C>T	c.(2173-2175)cCc>cTc	p.P725L	SLC38A10_ENST00000374759.3_Intron	NM_138570.2	NP_612637.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	0					amino acid transport|sodium ion transport	integral to membrane				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			GAAAGAGAAGGGGGGCCTGGC	0.657000													15	15					0	0	0.00316338	0	0
PSKH2	85481	broad.mit.edu	37	8	87076279	87076279	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:87076279A>G	ENST00000276616.2	-	2	841	c.767T>C	c.(766-768)cTt>cCt	p.L256P		NM_033126.1	NP_149117.1	Q96QS6	KPSH2_HUMAN	protein serine kinase H2	256	Protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47			STAD - Stomach adenocarcinoma(118;0.129)			GAATCCGCTAAGTAAAGCATA	0.438000													10	79					0	0	0.000673444	0	0
MIA3	375056	broad.mit.edu	37	1	222802528	222802528	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:222802528C>T	ENST00000344922.5	+	4	1991	c.1966C>T	c.(1966-1968)Ccc>Tcc	p.P656S	MIA3_ENST00000470521.1_3'UTR|MIA3_ENST00000344507.1_Intron|MIA3_ENST00000344441.6_Missense_Mutation_p.P656S	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	656					exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		AAGAAATCTTCCCTGGCAACA	0.463000													34	200					0	0	0.00283554	0	0
ZNF702P	79986	broad.mit.edu	37	19	53473687	53473687	+	RNA	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:53473687G>A	ENST00000600068.1	-	0	489				ZNF702P_ENST00000270443.4_RNA																							ATGGGTTTTAGGAATACAAGA	0.363000													7	23					0	0	0.00198382	0	0
DSC1	1823	broad.mit.edu	37	18	28739460	28739460	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:28739460T>A	ENST00000257197.3	-	2	357	c.96A>T	c.(94-96)aaA>aaT	p.K32N	RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257198.5_Missense_Mutation_p.K32N	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	32					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)			GAAGATAAACTTTCTGACAAG	0.313000													71	51					0	0	0.00361006	0	0
PLB1	151056	broad.mit.edu	37	2	28752259	28752259	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:28752259C>T	ENST00000422425.2	+	7	445	c.401C>T	c.(400-402)cCc>cTc	p.P134L	PLB1_ENST00000327757.5_Missense_Mutation_p.P134L	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	134	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					AGAGTCATACCCCACGATGGT	0.478000													15	34					0	0	0.00074312	0	0
PRDM10	56980	broad.mit.edu	37	11	129814867	129814867	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:129814867C>T	ENST00000358825.5	-	6	792	c.561G>A	c.(559-561)ccG>ccA	p.P187P	PRDM10_ENST00000423662.2_Silent_p.P101P|PRDM10_ENST00000526082.1_Silent_p.P101P|PRDM10_ENST00000304538.6_Silent_p.P101P|PRDM10_ENST00000528746.1_Silent_p.P161P|PRDM10_ENST00000360871.3_Silent_p.P187P	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN	PR domain containing 10	187					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)		GGCCGTGCTTCGGACACACTG	0.592000													12	19					0	0	0.00244969	0	0
COIL	8161	broad.mit.edu	37	17	55027862	55027862	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:55027862G>A	ENST00000240316.4	-	2	775	c.741C>T	c.(739-741)tcC>tcT	p.S247S		NM_004645.2	NP_004636.1	P38432	COIL_HUMAN	coilin	247	2 X 4 AA repeats of A-R-N-S.|Ser/Thr-rich.					Cajal body|nucleolus	protein C-terminus binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15	Breast(9;6.15e-08)					CAGACTCCGAGGAGGAACTGG	0.428000													61	67					0	0	0.00361006	0	0
GPSM3	63940	broad.mit.edu	37	6	32159205	32159205	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:32159205T>C	ENST00000375040.3	-	4	813	c.421A>G	c.(421-423)Aga>Gga	p.R141G	GPSM3_ENST00000487761.1_Missense_Mutation_p.R138G|GPSM3_ENST00000375043.3_Missense_Mutation_p.R141G	NM_001276501.1	NP_001263430.1	Q9Y4H4	GPSM3_HUMAN	G-protein signaling modulator 3	141	GoLoco 3.				signal transduction	cytoplasm	GTPase activator activity|protein binding			large_intestine(1)	1						CCCTGAACTCTCAGCAGCAAC	0.647000													22	194					0	0	0.00278032	0	0
PDE8B	8622	broad.mit.edu	37	5	76506853	76506853	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:76506853G>A	ENST00000264917.5	+	1	148	c.103G>A	c.(103-105)Ggc>Agc	p.G35S	PDE8B_ENST00000342343.4_Missense_Mutation_p.G35S|PDE8B_ENST00000333194.4_Missense_Mutation_p.G35S|PDE8B_ENST00000340978.3_Missense_Mutation_p.G35S|PDE8B_ENST00000346042.3_Missense_Mutation_p.G35S	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	35					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		CGTGTCGCAGGGCCCGGCGGC	0.756000													12	29					0	0	0.000566183	0	0
ZSCAN5B	342933	broad.mit.edu	37	19	56701677	56701677	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:56701677C>T	ENST00000586855.2	-	5	1320	c.1007G>A	c.(1006-1008)gGc>gAc	p.G336D	ZSCAN5B_ENST00000358992.3_Missense_Mutation_p.G336D			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	336					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						GCCCGCAGGGCCTGGGGAATG	0.547000													16	60					0	0	0.00074312	0	0
PCLO	27445	broad.mit.edu	37	7	82582185	82582185	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:82582185G>A	ENST00000423517.2	-	5	8421	c.8084C>T	c.(8083-8085)tCc>tTc	p.S2695F	PCLO_ENST00000333891.8_Missense_Mutation_p.S2695F	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2626					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						AATTGTTATGGAAATGCTGCT	0.413000													6	56					0	0	0.00116845	0	0
RAB6C	84084	broad.mit.edu	37	2	130738117	130738117	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:130738117G>A	ENST00000410061.2	+	1	883	c.429G>A	c.(427-429)agG>agA	p.R143R		NM_032144.2	NP_115520.2	Q9H0N0	RAB6C_HUMAN	RAB6C, member RAS oncogene family	143					protein transport|response to drug|small GTPase mediated signal transduction		GTP binding|GTPase activity			large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	5	Colorectal(110;0.1)					AGGGAGAGAGGAAAGCCAAAG	0.448000													27	193					0	0	0.00106085	0	0
KLHL13	90293	broad.mit.edu	37	X	117054318	117054318	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:117054318G>A	ENST00000371876.1	-	2	2524	c.103C>T	c.(103-105)Cga>Tga	p.R35*	KLHL13_ENST00000371878.1_Nonsense_Mutation_p.R35*|KLHL13_ENST00000539496.1_Nonsense_Mutation_p.R89*|KLHL13_ENST00000371882.1_Nonsense_Mutation_p.R35*|KLHL13_ENST00000545703.1_Nonsense_Mutation_p.R44*|KLHL13_ENST00000469946.1_Nonsense_Mutation_p.R35*|KLHL13_ENST00000262820.3_Nonsense_Mutation_p.R86*|KLHL13_ENST00000540167.1_Nonsense_Mutation_p.R70*|KLHL13_ENST00000541812.1_Nonsense_Mutation_p.R70*			Q9P2N7	KLH13_HUMAN	kelch-like family member 13	86					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						CCTTCAAGTCGAAGCTGGTCA	0.403000													17	40					0	0	0.00074312	0	0
ENPP5	59084	broad.mit.edu	37	6	46135445	46135445	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:46135445G>A	ENST00000371383.2	-	3	815	c.555C>T	c.(553-555)ctC>ctT	p.L185L	ENPP5_ENST00000230565.3_Silent_p.L185L			Q9UJA9	ENPP5_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative)	185						extracellular region|integral to membrane	hydrolase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						CTTCCCAATAGAGAAGACCAA	0.418000													14	81					0	0	0.00244969	0	0
KCNH6	81033	broad.mit.edu	37	17	61611489	61611489	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:61611489C>T	ENST00000583023.1	+	5	929	c.918C>T	c.(916-918)atC>atT	p.I306I	KCNH6_ENST00000580652.1_Silent_p.I306I|KCNH6_ENST00000314672.5_Silent_p.I306I|KCNH6_ENST00000581784.1_Silent_p.I306I|KCNH6_ENST00000456941.2_Silent_p.I306I	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	306					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	TGGATCTCATCGTGGACATCA	0.597000													18	116					0	0	0.00188189	0	0
DCN	1634	broad.mit.edu	37	12	91552258	91552258	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:91552258C>T	ENST00000052754.5	-	4	854	c.353G>A	c.(352-354)aGc>aAc	p.S118N	DCN_ENST00000425043.1_Intron|DCN_ENST00000547568.2_Intron|DCN_ENST00000393155.1_Missense_Mutation_p.S118N|DCN_ENST00000420120.2_Intron|DCN_ENST00000456569.2_Intron|DCN_ENST00000303320.3_Intron|DCN_ENST00000228329.5_Intron|DCN_ENST00000441303.2_Intron|DCN_ENST00000552962.1_Missense_Mutation_p.S118N	NM_001920.3	NP_001911.1	P07585	PGS2_HUMAN	decorin	118					organ morphogenesis	extracellular space				central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						ACTAACTTTGCTAATTTTATT	0.363000													18	90					0	0	0.00121646	0	0
GEMIN4	50628	broad.mit.edu	37	17	650806	650806	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:650806G>A	ENST00000576778.1	-	1	1785	c.444C>T	c.(442-444)ttC>ttT	p.F148F	GEMIN4_ENST00000437269.1_Silent_p.F159F|GEMIN4_ENST00000319004.5_Silent_p.F159F			P57678	GEMI4_HUMAN	gem (nuclear organelle) associated protein 4	159					rRNA processing|spliceosomal snRNP assembly	Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex	protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		CGTCCAGGAAGAAGGCCACGT	0.582000													64	38					0	0	0.00361006	0	0
BRD7	29117	broad.mit.edu	37	16	50354206	50354206	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:50354206G>A	ENST00000394688.3	-	15	1868	c.1709C>T	c.(1708-1710)cCg>cTg	p.P570L	BRD7_ENST00000394689.2_Missense_Mutation_p.P571L			Q9NPI1	BRD7_HUMAN	bromodomain containing 7	570					cell cycle|negative regulation of cell proliferation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of histone acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleus	histone acetyl-lysine binding|p53 binding|transcription coactivator activity|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22		all_cancers(37;0.0127)				GATCATGTTCGGAGGGGGTCT	0.468000													8	12					0	0	0.000442599	0	0
SYNRG	11276	broad.mit.edu	37	17	35913243	35913243	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:35913243A>G	ENST00000339208.6	-	14	2722	c.2582T>C	c.(2581-2583)gTt>gCt	p.V861A	SYNRG_ENST00000502449.2_Missense_Mutation_p.V783A|SYNRG_ENST00000585472.1_Missense_Mutation_p.V782A|SYNRG_ENST00000345615.4_Missense_Mutation_p.V783A|SYNRG_ENST00000394378.2_Missense_Mutation_p.V783A|SYNRG_ENST00000346661.4_Missense_Mutation_p.V861A|SYNRG_ENST00000591288.1_Missense_Mutation_p.V700A	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	861					endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CTGGCCACTAACTGTTGGTAA	0.443000													9	44					0	0	0.000442599	0	0
C7orf62	219557	broad.mit.edu	37	7	88423674	88423674	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:88423674C>T	ENST00000297203.2	-	2	768	c.583G>A	c.(583-585)Gga>Aga	p.G195R	ZNF804B_ENST00000333190.4_Intron	NM_152706.3	NP_689919.1	Q8TBZ9	CG062_HUMAN	chromosome 7 open reading frame 62	195										NS(1)|breast(1)|endometrium(3)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	30						TCGCCTGGTCCTTTAGTGCCT	0.448000													6	41					0	0	0.00116845	0	0
COL5A3	50509	broad.mit.edu	37	19	10077065	10077065	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:10077065C>T	ENST00000264828.3	-	64	4792	c.4707G>A	c.(4705-4707)cgG>cgA	p.R1569R		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1569	Fibrillar collagen NC1.				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)			TGAACGAGTCCCGCGCGCAGC	0.617000													5	15					0	0	0.00198382	0	0
LGSN	51557	broad.mit.edu	37	6	63990034	63990034	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:63990034C>T	ENST00000370657.4	-	4	1455	c.1422G>A	c.(1420-1422)caG>caA	p.Q474Q	LGSN_ENST00000370658.5_3'UTR			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	474					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	CTCCTAGAGCCTGTCTCAGGC	0.393000													19	73					0	0	0.00121646	0	0
EIF3G	8666	broad.mit.edu	37	19	10229351	10229351	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:10229351C>T	ENST00000253108.4	-	5	335	c.293G>A	c.(292-294)aGg>aAg	p.R98K		NM_003755.3	NP_003746.2	O75821	EIF3G_HUMAN	eukaryotic translation initiation factor 3, subunit G	98						cytosol|eukaryotic translation initiation factor 3 complex|nucleus|perinuclear region of cytoplasm	nucleotide binding|protein binding|translation initiation factor activity			central_nervous_system(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05)			CACCTTCCTCCTTGCGACAGC	0.532000													15	52					0	0	0.000566183	0	0
GFM1	85476	broad.mit.edu	37	3	158372359	158372359	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:158372359T>G	ENST00000486715.1	+	8	1379	c.1022T>G	c.(1021-1023)aTc>aGc	p.I341S	GFM1_ENST00000264263.5_Missense_Mutation_p.I360S|GFM1_ENST00000478576.1_Missense_Mutation_p.I341S	NM_024996.5	NP_079272.4	Q96RP9	EFGM_HUMAN	G elongation factor, mitochondrial 1	341					mitochondrial translational elongation	mitochondrion	GTP binding|GTPase activity|translation elongation factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|urinary_tract(2)	22			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			AAAACCAAAATCCTAATGAAC	0.303000													13	69					0	0	0.00316338	0	0
CMYA5	202333	broad.mit.edu	37	5	79024849	79024849	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:79024849C>T	ENST00000446378.2	+	2	292	c.261C>T	c.(259-261)acC>acT	p.T87T		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	87						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)		CCTGGGAAACCAATTCAAGTA	0.458000													19	86					0	0	0.00121646	0	0
OR2B6	26212	broad.mit.edu	37	6	27925191	27925191	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:27925191C>T	ENST00000244623.1	+	1	173	c.173C>T	c.(172-174)cCc>cTc	p.P58L		NM_012367.1	NP_036499.1	P58173	OR2B6_HUMAN	olfactory receptor, family 2, subfamily B, member 6	58					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CTTCATACCCCCATGTATTTT	0.403000													12	71					0	0	0.000566183	0	0
SATL1	340562	broad.mit.edu	37	X	84363411	84363411	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:84363411C>T	ENST00000509231.1	-	1	643	c.564G>A	c.(562-564)atG>atA	p.M188I	SATL1_ENST00000332921.5_Start_Codon_SNP_p.M1I|SATL1_ENST00000395409.3_Start_Codon_SNP_p.M1I			Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1	1	Gln-rich.						N-acetyltransferase activity			NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						CTGGTGGACTCATGTTTGGTT	0.557000											OREG0019887	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	49					0	0	0.00074312	0	0
PCDHGC4	56098	broad.mit.edu	37	5	140867061	140867061	+	Missense_Mutation	SNP	C	C	T	rs116370895	byFrequency	TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:140867061C>T	ENST00000306593.1	+	1	2321	c.2321C>T	c.(2320-2322)cCc>cTc	p.P774L	PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1														NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCTGTACACCCTTGGCTTCT	0.572000													17	19					0	0	0.00074312	0	0
PCED1B	91523	broad.mit.edu	37	12	47629792	47629792	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:47629792C>T	ENST00000546455.1	+	4	1677	c.946C>T	c.(946-948)Ctg>Ttg	p.L316L	PCED1B_ENST00000432328.1_Silent_p.L316L					PC-esterase domain containing 1B																		gctcccgctcctgtccccaca	0.622000													8	32					0	0	0.00307968	0	0
CCNB3	85417	broad.mit.edu	37	X	50052923	50052923	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:50052923C>T	ENST00000376042.1	+	6	2052	c.1754C>T	c.(1753-1755)tCg>tTg	p.S585L	CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.S585L|CCNB3_ENST00000348603.2_Intron			Q8WWL7	CCNB3_HUMAN	cyclin B3	585					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding	p.S585L(2)		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)					ACCAAGACATCGTTGTCTTTA	0.398000													5	9					0	0	0.000602214	0	0
SOX7	83595	broad.mit.edu	37	8	10583325	10583325	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:10583325C>T	ENST00000304501.1	-	2	1168	c.1090G>A	c.(1090-1092)Ggt>Agt	p.G364S	SOX7_ENST00000553390.1_Missense_Mutation_p.G416S|SOX7_ENST00000554914.1_Missense_Mutation_p.G416S	NM_031439.2	NP_113627.1	Q9BT81	SOX7_HUMAN	SRY (sex determining region Y)-box 7	364	Sox C-terminal.				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)		TCTGTGGGACCCGTTGGTGTC	0.612000													4	15					0	0	0.000602214	0	0
PLCH1	23007	broad.mit.edu	37	3	155232633	155232633	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:155232633C>T	ENST00000460012.1	-	12	1778	c.1421G>A	c.(1420-1422)aGg>aAg	p.R474K	PLCH1_ENST00000494598.1_Missense_Mutation_p.R492K|PLCH1_ENST00000414191.1_Missense_Mutation_p.R474K|PLCH1_ENST00000340059.7_Missense_Mutation_p.R492K|PLCH1_ENST00000447496.2_Missense_Mutation_p.R492K|PLCH1_ENST00000334686.6_Missense_Mutation_p.R474K			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	492					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)			CAGTTTTTTCCTTATGAAAGA	0.393000													6	30					0	0	0.00198382	0	0
TNC	3371	broad.mit.edu	37	9	117826273	117826273	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:117826273G>T	ENST00000350763.4	-	12	3973	c.3562C>A	c.(3562-3564)Cca>Aca	p.P1188T	TNC_ENST00000341037.4_Missense_Mutation_p.P1188T|TNC_ENST00000542877.1_Intron|TNC_ENST00000423613.2_Missense_Mutation_p.P1188T|TNC_ENST00000537320.1_Intron|TNC_ENST00000535648.1_Intron|TNC_ENST00000345230.3_Intron|TNC_ENST00000346706.3_Intron|TNC_ENST00000340094.3_Intron	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1188	Fibronectin type-III 7.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GCCCCTTCTGGAGCAGTCCAG	0.552000													24	39					1.26454e-06	3.67673e-06	0.000878237	1	0
VPS18	57617	broad.mit.edu	37	15	41191637	41191637	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:41191637C>T	ENST00000220509.5	+	4	960	c.621C>T	c.(619-621)tcC>tcT	p.S207S	VPS18_ENST00000558474.1_Intron	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)	207					endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		CTGTGTGCTCCCTTGAGGCCG	0.612000													11	50					0	0	0.000978159	0	0
CSMD3	114788	broad.mit.edu	37	8	113323251	113323251	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:113323251G>A	ENST00000297405.5	-	50	8085	c.7841C>T	c.(7840-7842)tCc>tTc	p.S2614F	CSMD3_ENST00000343508.3_Missense_Mutation_p.S2574F|CSMD3_ENST00000455883.2_Missense_Mutation_p.S2510F|CSMD3_ENST00000352409.3_Missense_Mutation_p.S2544F	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2614	Sushi 14.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATACCCATAGGAAGACTTTCT	0.468000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			5	37					0	0	0.000602214	0	0
SCN3A	6328	broad.mit.edu	37	2	166012313	166012313	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:166012313G>A	ENST00000360093.3	-	10	1623	c.1132C>T	c.(1132-1134)Cga>Tga	p.R378*	SCN3A_ENST00000283254.7_Nonsense_Mutation_p.R378*|SCN3A_ENST00000409101.3_Nonsense_Mutation_p.R378*	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	378						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.R378*(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	GTCATGAGTCGAAATAGAGAC	0.413000													15	72					0	0	0.00400662	0	0
SLC4A2	6522	broad.mit.edu	37	7	150773192	150773192	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:150773192C>T	ENST00000485713.1	+	22	4604	c.3564C>T	c.(3562-3564)gcC>gcT	p.A1188A	SLC4A2_ENST00000413384.2_Silent_p.A1188A|SLC4A2_ENST00000461735.1_Silent_p.A1174A|SLC4A2_ENST00000392826.2_Silent_p.A1179A|RP11-148K1.12_ENST00000485974.1_RNA|SLC4A2_ENST00000310317.5_Silent_p.A1106A	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	1188	Membrane (anion exchange).				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCTCCCTGGCCTTCCCCTTCA	0.642000													11	72					0	0	0.00136819	0	0
ADCY5	111	broad.mit.edu	37	3	123014946	123014946	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:123014946G>A	ENST00000462833.1	-	17	4260	c.3048C>T	c.(3046-3048)ttC>ttT	p.F1016F	ADCY5_ENST00000309879.5_Silent_p.F666F|ADCY5_ENST00000491190.1_Silent_p.F674F	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	1016					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		GTTTCCAGAGGAAGTCGAGGC	0.642000													4	16					0	0	0.00116845	0	0
MUC16	94025	broad.mit.edu	37	19	9072091	9072091	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:9072091G>A	ENST00000397910.4	-	3	15558	c.15355C>T	c.(15355-15357)Cct>Tct	p.P5119S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5121	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						TTTATAGAAGGAAAAATTTCC	0.453000													10	40					0	0	0.000673444	0	0
SLC44A5	204962	broad.mit.edu	37	1	75685496	75685496	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:75685496G>A	ENST00000370855.5	-	15	1280	c.1167C>T	c.(1165-1167)gtC>gtT	p.V389V	SLC44A5_ENST00000370859.3_Silent_p.V389V|SLC44A5_ENST00000535611.1_Silent_p.V259V	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	389						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						CTGCTGTCACGACCCAGTAGC	0.403000													6	24					0	0	0.00198382	0	0
CSMD2	114784	broad.mit.edu	37	1	34037281	34037281	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:34037281C>T	ENST00000373381.4	-	51	7984	c.7808G>A	c.(7807-7809)cGa>cAa	p.R2603Q		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2605	Sushi 16.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AAGCCTCCATCGGCCATGCTC	0.483000													7	50					0	0	0.000274275	0	0
PLXNA4	91584	broad.mit.edu	37	7	131859575	131859575	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:131859575G>T	ENST00000359827.3	-	21	4941	c.3979C>A	c.(3979-3981)Cca>Aca	p.P1327T	PLXNA4_ENST00000321063.4_Missense_Mutation_p.P1327T			Q9HCM2	PLXA4_HUMAN	plexin A4	1327						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TCAATTCCTGGGAACAGCACC	0.567000													17	93					8.00594e-06	2.32501e-05	0.000958276	1	0
GNL2	29889	broad.mit.edu	37	1	38049513	38049513	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:38049513G>A	ENST00000373062.3	-	6	689	c.591C>T	c.(589-591)atC>atT	p.I197I		NM_013285.2	NP_037417.1	Q13823	NOG2_HUMAN	guanine nucleotide binding protein-like 2 (nucleolar)	197					ribosome biogenesis	nucleolus	GTP binding|GTPase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	30		Myeloproliferative disorder(586;0.0393)				CCTTTTTATAGATCTCTTCTT	0.398000													17	67					0	0	0.000958276	0	0
GPR19	2842	broad.mit.edu	37	12	12815265	12815265	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:12815265G>A	ENST00000540510.1	-	2	310	c.118C>T	c.(118-120)Ctg>Ttg	p.L40L	GPR19_ENST00000332427.2_Silent_p.L40L			Q15760	GPR19_HUMAN	G protein-coupled receptor 19	40						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17		Prostate(47;0.0802)		BRCA - Breast invasive adenocarcinoma(232;0.048)		AATTCCATCAGGTATTGGCTT	0.498000													23	76					0	0	0.00332997	0	0
GRIP2	80852	broad.mit.edu	37	3	14564590	14564590	+	RNA	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:14564590G>A	ENST00000273083.3	-	0	556							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						CTCCTGGACAGGATTTGACAA	0.607000													8	28					0	0	0.000274275	0	0
GUCY1B3	2983	broad.mit.edu	37	4	156723706	156723706	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:156723706C>A	ENST00000264424.8	+	10	1470	c.1388C>A	c.(1387-1389)tCc>tAc	p.S463Y	GUCY1B3_ENST00000505154.1_Missense_Mutation_p.S395Y|GUCY1B3_ENST00000503520.1_Missense_Mutation_p.S430Y|GUCY1B3_ENST00000505764.1_Missense_Mutation_p.S443Y|GUCY1B3_ENST00000507146.1_Missense_Mutation_p.S438Y|GUCY1B3_ENST00000513437.1_Missense_Mutation_p.S395Y|GUCY1B3_ENST00000502959.1_Missense_Mutation_p.S485Y	NM_000857.2	NP_000848.1	Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3	463	Guanylate cyclase.				blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble|intracellular membrane-bounded organelle	GTP binding|guanylate cyclase activity|receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		CTGACTGATTCCCGGAAAAAC	0.488000													4	9					0.000602214	0.00174187	0.000602214	1	0
BIN2	51411	broad.mit.edu	37	12	51685531	51685531	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:51685531C>T	ENST00000267012.4	-	10	1420	c.1359G>A	c.(1357-1359)ggG>ggA	p.G453G	BIN2_ENST00000452142.2_Silent_p.G421G|BIN2_ENST00000604560.1_Silent_p.G426G|BIN2_ENST00000544402.1_Silent_p.G427G	NM_016293.2	NP_057377.2	Q9UBW5	BIN2_HUMAN	bridging integrator 2	453	Pro-rich.					cytoplasm	protein binding			NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						CAGTCCCAGTCCCCAAGGAGG	0.577000													4	19					0	0	0.00024832	0	0
GLB1	2720	broad.mit.edu	37	3	33038575	33038575	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:33038575G>A	ENST00000307363.5	-	16	2140	c.1996C>T	c.(1996-1998)Ccg>Tcg	p.P666S	GLB1_ENST00000445488.2_Missense_Mutation_p.P714S|GLB1_ENST00000307377.8_Missense_Mutation_p.P535S|GLB1_ENST00000399402.3_Missense_Mutation_p.P636S	NM_000404.2	NP_000395.2	P16278	BGAL_HUMAN	galactosidase, beta 1	666					carbohydrate metabolic process	lysosome|perinuclear region of cytoplasm	beta-galactosidase activity|cation binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21		Melanoma(143;0.104)				TTTTTTTGCGGGGGTGGGGGC	0.483000													20	44					0	0	0.00229938	0	0
ITPKB	3707	broad.mit.edu	37	1	226924800	226924800	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:226924800G>A	ENST00000429204.1	-	2	687	c.360C>T	c.(358-360)tcC>tcT	p.S120S	ITPKB_ENST00000272117.3_Silent_p.S120S|ITPKB_ENST00000366784.1_Silent_p.S120S	NM_002221.3	NP_002212.3	P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	120							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				GCCCTGGCGGGGAGAGGGTAC	0.667000													15	20					0	0	0.000566183	0	0
ZMAT4	79698	broad.mit.edu	37	8	40554838	40554838	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:40554838G>A	ENST00000297737.6	-	4	421	c.275C>T	c.(274-276)tCc>tTc	p.S92F	ZMAT4_ENST00000315769.7_Missense_Mutation_p.S92F	NM_024645.2	NP_078921.1	Q9H898	ZMAT4_HUMAN	zinc finger, matrin-type 4	92						nucleus	DNA binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;0.00722)			TTGATAATGGGAATCGGCCAC	0.502000													7	57					0	0	0.00307968	0	0
DNAH9	1770	broad.mit.edu	37	17	11583132	11583132	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:11583132G>A	ENST00000262442.3	+	18	3480	c.3412G>A	c.(3412-3414)Gaa>Aaa	p.E1138K	DNAH9_ENST00000454412.2_Missense_Mutation_p.E1138K	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1138	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CAAGAAAGTTGAAAAAGGAGA	0.428000													53	76					0	0	0.00361006	0	0
PYGO2	90780	broad.mit.edu	37	1	154932029	154932029	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:154932029G>A	ENST00000368457.2	-	3	618	c.447C>T	c.(445-447)ccC>ccT	p.P149P	PYGO2_ENST00000368456.1_Silent_p.P112P	NM_138300.3	NP_612157.1	Q9BRQ0	PYGO2_HUMAN	pygopus family PHD finger 2	149	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding|zinc ion binding			endometrium(2)|large_intestine(2)|lung(3)|skin(2)|urinary_tract(1)	10	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CAGGACCCTGGGGGGGCATGT	0.622000													8	42					0	0	0.000442599	0	0
ADAM19	8728	broad.mit.edu	37	5	156997925	156997925	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:156997925G>A	ENST00000257527.4	-	2	236	c.158C>T	c.(157-159)tCa>tTa	p.S53L	ADAM19_ENST00000517905.1_Missense_Mutation_p.S53L|ADAM19_ENST00000430702.2_5'UTR|ADAM19_ENST00000394020.1_Missense_Mutation_p.S55L	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	53					proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGGGCTTTCTGAAGTCTTCCA	0.463000													11	65					0	0	0.00244969	0	0
OR10H4	126541	broad.mit.edu	37	19	16059904	16059904	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:16059904C>T	ENST00000322107.1	+	1	87	c.87C>T	c.(85-87)ttC>ttT	p.F29F		NM_001004465.1	NP_001004465.1	Q8NGA5	O10H4_HUMAN	olfactory receptor, family 10, subfamily H, member 4	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						CCATCTTGTTCCTGCTGTACC	0.483000													17	73					0	0	0.000958276	0	0
DGKB	1607	broad.mit.edu	37	7	14613939	14613939	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:14613939G>A	ENST00000403951.2	-	20	2090	c.1671C>T	c.(1669-1671)atC>atT	p.I557I	DGKB_ENST00000402815.1_Silent_p.I556I|DGKB_ENST00000407950.1_Silent_p.I549I|DGKB_ENST00000399322.3_Silent_p.I557I|DGKB_ENST00000444700.2_Silent_p.I538I|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000258767.5_Silent_p.I557I|DGKB_ENST00000406247.3_Silent_p.I557I			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	557	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	TGTCCAACATGATTTCTGTGC	0.368000													26	153					0	0	0.00395357	0	0
TACC2	10579	broad.mit.edu	37	10	123843116	123843116	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:123843116G>A	ENST00000369005.1	+	4	1441	c.1101G>A	c.(1099-1101)ctG>ctA	p.L367L	TACC2_ENST00000334433.3_Silent_p.L367L|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515273.1_Silent_p.L367L|TACC2_ENST00000453444.2_Silent_p.L367L|TACC2_ENST00000515603.1_Silent_p.L367L	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	367						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				AGGAGGCTCTGGACACCATTG	0.632000													10	27					0	0	0.000978159	0	0
MTERFD1	51001	broad.mit.edu	37	8	97258150	97258150	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:97258150G>A	ENST00000523821.1	-	6	954	c.835C>T	c.(835-837)Ctg>Ttg	p.L279L	MTERFD1_ENST00000522822.1_Silent_p.L158L|MTERFD1_ENST00000524341.1_Silent_p.L89L|MTERFD1_ENST00000287025.3_Silent_p.L279L			Q96E29	MTER1_HUMAN	MTERF domain containing 1	279					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion	transcription regulatory region DNA binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	24	Breast(36;5.16e-05)					CGAACTACCAGATCTCTAGTC	0.358000													46	60					0	0	0.00361006	0	0
CNNM2	54805	broad.mit.edu	37	10	104828438	104828438	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:104828438C>T	ENST00000369878.3	+	5	2250	c.2126C>T	c.(2125-2127)gCc>gTc	p.A709V	CNNM2_ENST00000433628.2_Missense_Mutation_p.A709V|CNNM2_ENST00000475511.1_3'UTR|CNNM2_ENST00000457502.2_Missense_Mutation_p.A467V	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN	cyclin M2	709					ion transport	integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		GAAGCGAGCGCCTTCTCATAC	0.517000													4	15					0	0	0.00024832	0	0
TMEM63A	9725	broad.mit.edu	37	1	226058783	226058783	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:226058783G>A	ENST00000366835.3	-	6	634	c.364C>T	c.(364-366)Cgt>Tgt	p.R122C		NM_014698.2	NP_055513.2	O94886	TM63A_HUMAN	transmembrane protein 63A	122						integral to membrane|lysosomal membrane	nucleotide binding			breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					CACTGCAGACGGAAGATGGCA	0.537000													6	14					0	0	0.00198382	0	0
ROS1	6098	broad.mit.edu	37	6	117662645	117662645	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:117662645G>A	ENST00000368508.3	-	29	5018	c.4820C>T	c.(4819-4821)cCt>cTt	p.P1607L	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.P1601L	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	1607	Fibronectin type-III 7.				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)		TTGTCTTAGAGGAGTTTCAGG	0.403000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								20	16					0	0	0.00188189	0	0
GXYLT2	727936	broad.mit.edu	37	3	72971411	72971411	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:72971411C>T	ENST00000389617.4	+	3	686	c.525C>T	c.(523-525)atC>atT	p.I175I		NM_001080393.1	NP_001073862.1	A0PJZ3	GXLT2_HUMAN	glucoside xylosyltransferase 2	175					O-glycan processing	integral to membrane	UDP-xylosyltransferase activity	p.I175I(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	18						TCTACCCCATCACATTTTCTG	0.453000													43	141					0	0	0.00222228	0	0
PRODH2	58510	broad.mit.edu	37	19	36297455	36297455	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:36297455C>T	ENST00000301175.3	-	8	1123	c.1106G>A	c.(1105-1107)aGg>aAg	p.R369K		NM_021232.1	NP_067055.1	Q9UF12	PROD2_HUMAN	proline dehydrogenase (oxidase) 2	369					glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CAGGCCGGCCCTGTGCGCAGC	0.637000													12	57					0	0	0.00185496	0	0
KDM2A	22992	broad.mit.edu	37	11	67015803	67015803	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:67015803C>T	ENST00000529006.2	+	16	2463	c.2017C>T	c.(2017-2019)Cca>Tca	p.P673S	KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000398645.2_Missense_Mutation_p.P673S|KDM2A_ENST00000308783.5_Missense_Mutation_p.P131S|KDM2A_ENST00000530342.1_Missense_Mutation_p.P234S	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	673					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						CTGGGAATGTCCAAAGTGCTA	0.468000													6	10					0	0	0.00307968	0	0
HYAL2	8692	broad.mit.edu	37	3	50355943	50355943	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:50355943G>A	ENST00000447092.1	-	3	3331	c.1039C>T	c.(1039-1041)Ctg>Ttg	p.L347L	HYAL2_ENST00000395139.3_Silent_p.L347L|HYAL2_ENST00000442581.1_Silent_p.L347L|HYAL2_ENST00000357750.4_Silent_p.L347L			Q12891	HYAL2_HUMAN	hyaluronoglucosaminidase 2	347						anchored to membrane|lysosome|plasma membrane	hyalurononglucosaminidase activity|receptor activity			breast(1)|endometrium(2)|kidney(1)|ovary(1)|prostate(1)|skin(1)	7				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	Hyaluronidase(DB00070)	AGCCGTGTCAGGTAATCTTTG	0.612000													6	31					0	0	0.00198382	0	0
ZNF442	79973	broad.mit.edu	37	19	12461221	12461221	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:12461221C>T	ENST00000242804.4	-	6	1760	c.1178G>A	c.(1177-1179)cGa>cAa	p.R393Q	ZNF442_ENST00000438182.1_Missense_Mutation_p.R324Q	NM_030824.2	NP_110451.1	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	393					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R393Q(1)		breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						CATATGACTTCGAAAGCTTGA	0.428000													16	111					0	0	0.00074312	0	0
DOCK3	1795	broad.mit.edu	37	3	51400070	51400070	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:51400070C>T	ENST00000266037.9	+	49	5281	c.5258C>T	c.(5257-5259)tCc>tTc	p.S1753F		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1753	Ser-rich.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TCAGCACCATCCCAGATGATT	0.562000													4	10					0	0	0.00116845	0	0
FRMD3	257019	broad.mit.edu	37	9	85958174	85958174	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:85958174C>T	ENST00000304195.3	-	5	609	c.403G>A	c.(403-405)Gac>Aac	p.D135N	FRMD3_ENST00000376438.1_Missense_Mutation_p.D135N	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	135	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						TGAAAAATGTCCCTTTTAATC	0.463000													18	27					0	0	0.00152264	0	0
ZSWIM5	57643	broad.mit.edu	37	1	45486431	45486431	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:45486431C>T	ENST00000359600.5	-	12	2684	c.2479G>A	c.(2479-2481)Gaa>Aaa	p.E827K		NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	827							zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					TGTATTGCTTCCAGAATTGTT	0.438000													44	138					0	0	0.00361006	0	0
OCRL	4952	broad.mit.edu	37	X	128723831	128723831	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:128723831C>T	ENST00000371113.4	+	23	2644	c.2479C>T	c.(2479-2481)Cag>Tag	p.Q827*	OCRL_ENST00000357121.5_Nonsense_Mutation_p.Q819*	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	827	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						GGTGATCTCCCAGCTTCCGAG	0.393000													8	33					0	0	0.000274275	0	0
DNAH8	1769	broad.mit.edu	37	6	38830154	38830154	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:38830154G>A	ENST00000359357.3	+	42	5833	c.5579G>A	c.(5578-5580)gGa>gAa	p.G1860E	DNAH8_ENST00000441566.1_Missense_Mutation_p.G1860E|DNAH8_ENST00000449981.2_Missense_Mutation_p.G2077E					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AAAGACATGGGAAGGTGTTTG	0.463000													72	74					0	0	0.00361006	0	0
GAS2L2	246176	broad.mit.edu	37	17	34072405	34072405	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:34072405C>T	ENST00000254466.6	-	6	2138	c.2111G>A	c.(2110-2112)aGg>aAg	p.R704K	GAS2L2_ENST00000587565.1_Missense_Mutation_p.R688K	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	704					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TGCCTTTGTCCTGGGCCCACT	0.637000													29	73					0	0	0.000953801	0	0
CCDC141	285025	broad.mit.edu	37	2	179702159	179702159	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:179702159C>T	ENST00000420890.2	-	23	3904	c.3787G>A	c.(3787-3789)Gaa>Aaa	p.E1263K	CCDC141_ENST00000480419.1_5'UTR|CCDC141_ENST00000295723.5_Missense_Mutation_p.E688K	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	688							protein binding	p.E688K(1)		NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			AGAACAGATTCCTGGGCATCC	0.522000													10	22					0	0	0.000673444	0	0
COL22A1	169044	broad.mit.edu	37	8	139856336	139856336	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:139856336C>T	ENST00000303045.6	-	4	1170	c.724G>A	c.(724-726)Gaa>Aaa	p.E242K	COL22A1_ENST00000435777.1_Missense_Mutation_p.E242K	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	242	TSP N-terminal.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CCTGTGATTTCCTTGGTTCCT	0.478000										HNSCC(7;0.00092)			40	164					0	0	0.00361006	0	0
PIAS3	10401	broad.mit.edu	37	1	145580513	145580513	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:145580513C>T	ENST00000393045.2	+	7	903	c.813C>T	c.(811-813)tcC>tcT	p.S271S	PIAS3_ENST00000369299.3_3'UTR|PIAS3_ENST00000369298.1_Silent_p.S236S	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	271	PINIT.				positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AGAATTACTCCTTGTCTGTGT	0.512000													5	31					0	0	0.00116845	0	0
DPRX	503834	broad.mit.edu	37	19	54140039	54140039	+	Nonsense_Mutation	SNP	C	C	T	rs150237904		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:54140039C>T	ENST00000376650.1	+	3	424	c.373C>T	c.(373-375)Cga>Tga	p.R125*		NM_001012728.1	NP_001012746.1	A6NFQ7	DPRX_HUMAN	divergent-paired related homeobox	125						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|large_intestine(1)|lung(7)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.013)		CACGGGTCATCGAGTCCCCTC	0.567000													13	40					0	0	0.00244969	0	0
IGSF10	285313	broad.mit.edu	37	3	151164105	151164105	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:151164105G>A	ENST00000282466.3	-	4	3663	c.3664C>T	c.(3664-3666)Caa>Taa	p.Q1222*		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1222					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ACTTTATGTTGATTCCTTAAT	0.378000													22	99					0	0	0.00278032	0	0
PDGFRA	5156	broad.mit.edu	37	4	55127443	55127443	+	Silent	SNP	C	C	T	rs143939281		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:55127443C>T	ENST00000257290.5	+	3	562	c.231C>T	c.(229-231)aaC>aaT	p.N77N	FIP1L1_ENST00000507166.1_Intron|PDGFRA_ENST00000508170.1_Silent_p.N77N	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	77	Ig-like C2-type 1.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	AAGAAAACAACAGCGGCCTTT	0.498000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			24	77					0	0	0.000878237	0	0
SUCNR1	56670	broad.mit.edu	37	3	151599096	151599096	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:151599096G>A	ENST00000362032.4	+	3	870	c.765G>A	c.(763-765)agG>agA	p.R255R	RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA	NM_033050.4	NP_149039.2	Q9BXA5	SUCR1_HUMAN	succinate receptor 1	255						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		Succinic acid(DB00139)	GGAATGTGAGGATCGCTTCAC	0.498000													10	56					0	0	0.000978159	0	0
TNC	3371	broad.mit.edu	37	9	117791725	117791725	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:117791725C>T	ENST00000350763.4	-	25	6494	c.6083G>A	c.(6082-6084)aGa>aAa	p.R2028K	TNC_ENST00000341037.4_Missense_Mutation_p.R1846K|TNC_ENST00000542877.1_Missense_Mutation_p.R1665K|TNC_ENST00000423613.2_Missense_Mutation_p.R1755K|TNC_ENST00000537320.1_Missense_Mutation_p.R1391K|TNC_ENST00000535648.1_Missense_Mutation_p.R1573K|TNC_ENST00000345230.3_Missense_Mutation_p.R1391K|TNC_ENST00000346706.3_Missense_Mutation_p.R1482K|TNC_ENST00000340094.3_Missense_Mutation_p.R1664K	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	2028	Fibrinogen C-terminal.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GTTTTTGCGTCTCAGGAACAC	0.488000													19	36					0	0	0.00152264	0	0
NEBL	10529	broad.mit.edu	37	10	21129735	21129735	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:21129735C>T	ENST00000377122.4	-	13	1667	c.1271G>A	c.(1270-1272)gGa>gAa	p.G424E	NEBL_ENST00000377159.4_Intron|NEBL_ENST00000417816.2_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	424					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						AAGTTCCATTCCTTTCCCTTT	0.333000													9	47					0	0	0.000274275	0	0
PTPRN	5798	broad.mit.edu	37	2	220167060	220167060	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:220167060G>A	ENST00000295718.2	-	6	1033	c.793C>T	c.(793-795)Cca>Tca	p.P265S	PTPRN_ENST00000409251.3_Missense_Mutation_p.P265S|AC114803.3_ENST00000417355.1_RNA|PTPRN_ENST00000423636.2_Missense_Mutation_p.P175S	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	265					response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		GAAGGCCCTGGAAGGTCCCCG	0.637000													8	9					0	0	0.00307968	0	0
GNAT3	346562	broad.mit.edu	37	7	80117911	80117911	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:80117911G>A	ENST00000398291.3	-	3	336	c.243C>T	c.(241-243)atC>atT	p.I81I	CD36_ENST00000435819.1_Intron	NM_001102386.1	NP_001095856.1	A8MTJ3	GNAT3_HUMAN	guanine nucleotide binding protein, alpha transducing 3	81					detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction|sensory perception of sweet taste|sensory perception of umami taste	cytoplasm|heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	9						CAATAGCTAGGATGGATTGCA	0.358000													5	15					0	0	0.00198382	0	0
WDR70	55100	broad.mit.edu	37	5	37396570	37396570	+	Silent	SNP	A	A	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:37396570A>C	ENST00000265107.4	+	5	546	c.390A>C	c.(388-390)ccA>ccC	p.P130P	WDR70_ENST00000504564.1_Silent_p.P130P	NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	130										central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TAGGAAAACCAGTTAATTTTA	0.433000													24	47					0	0	0.00395357	0	0
C7orf66	154907	broad.mit.edu	37	7	108524071	108524071	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:108524071C>T	ENST00000379007.2	-	2	395	c.341G>A	c.(340-342)gGa>gAa	p.G114E		NM_001024607.1	NP_001019778.1	A4D0T2	CG066_HUMAN	chromosome 7 open reading frame 66	114						integral to membrane				breast(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	15						TCCTTAATTTCCCATTTCCTT	0.323000													5	67					0	0	0.000602214	0	0
TNIP1	10318	broad.mit.edu	37	5	150411892	150411892	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:150411892C>T	ENST00000389378.2	-	17	2420	c.1832G>A	c.(1831-1833)aGc>aAc	p.S611N	TNIP1_ENST00000523338.1_Missense_Mutation_p.S611N|TNIP1_ENST00000520931.1_Missense_Mutation_p.S558N|TNIP1_ENST00000518977.1_Missense_Mutation_p.S611N|TNIP1_ENST00000524280.1_Intron|TNIP1_ENST00000523200.1_Missense_Mutation_p.S547N|TNIP1_ENST00000315050.7_Missense_Mutation_p.S611N|TNIP1_ENST00000521423.1_5'UTR|TNIP1_ENST00000521591.1_Missense_Mutation_p.S611N|TNIP1_ENST00000522226.1_Missense_Mutation_p.S611N	NM_001252385.1|NM_001252393.1|NM_001258454.1|NM_006058.4	NP_001239314.1|NP_001239322.1|NP_001245383.1|NP_006049.3	Q15025	TNIP1_HUMAN	TNFAIP3 interacting protein 1	611	Pro-rich.				defense response|glycoprotein biosynthetic process|negative regulation of viral genome replication|translation	cytoplasm|nucleus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3)	23		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CACTTGGGAGCTCTGATTTGG	0.498000													6	24					0	0	0.00307968	0	0
GLB1L2	89944	broad.mit.edu	37	11	134217228	134217228	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:134217228C>T	ENST00000535456.2	+	5	647	c.459C>T	c.(457-459)ctC>ctT	p.L153L	GLB1L2_ENST00000339772.7_Silent_p.L153L|GLB1L2_ENST00000389881.3_Silent_p.L153L|GLB1L2_ENST00000529077.1_3'UTR	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2	153					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)		GCTGGCTACTCCAAGACCCTG	0.547000													28	146					0	0	0.00375469	0	0
FAM111B	374393	broad.mit.edu	37	11	58892634	58892634	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:58892634G>A	ENST00000343597.3	+	4	1255	c.1064G>A	c.(1063-1065)cGa>cAa	p.R355Q	FAM111B_ENST00000411426.1_Missense_Mutation_p.R325Q|FAM111B_ENST00000529618.1_Missense_Mutation_p.R325Q	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN	family with sequence similarity 111, member B	355							catalytic activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						AGTTTGCCCCGAAAATATAGG	0.398000													15	67					0	0	0.00400662	0	0
ASB2	51676	broad.mit.edu	37	14	94413705	94413705	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:94413705C>T	ENST00000555019.1	-	7	1472	c.1042G>A	c.(1042-1044)Ggc>Agc	p.G348S	ASB2_ENST00000556337.1_Intron|ASB2_ENST00000315988.4_Missense_Mutation_p.G300S	NM_001202429.1	NP_001189358.1	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box containing 2	300					intracellular signal transduction					breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		CTGTAGTTGCCCTTCTTGGAG	0.632000													9	26					0	0	0.000673444	0	0
HDAC5	10014	broad.mit.edu	37	17	42156005	42156005	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:42156005G>A	ENST00000225983.6	-	26	3518	c.3195C>T	c.(3193-3195)ttC>ttT	p.F1065F	HDAC5_ENST00000393622.2_Silent_p.F1064F|HDAC5_ENST00000336057.5_Silent_p.F979F|HDAC5_ENST00000586802.1_Silent_p.F1064F			Q9UQL6	HDAC5_HUMAN	histone deacetylase 5	1064					B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		GACCAGCGGCGAACTTCTGCA	0.657000													14	124					0	0	0.00316338	0	0
DNAH10	196385	broad.mit.edu	37	12	124267767	124267767	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:124267767C>T	ENST00000409039.3	+	7	797	c.772C>T	c.(772-774)Cag>Tag	p.Q258*		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	258	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.Q76*(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CTGGCTGAATCAGATATCCAC	0.527000													6	31					0	0	0.00116845	0	0
ABCC9	10060	broad.mit.edu	37	12	21995375	21995375	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:21995375G>A	ENST00000261200.4	-	27	3345	c.3346C>T	c.(3346-3348)Cgc>Tgc	p.R1116C	ABCC9_ENST00000261201.4_Missense_Mutation_p.R1116C|RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000345162.2_Missense_Mutation_p.R1080C	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1116	ABC transmembrane type-1 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AGTGTTGAGCGAGTTAGAGAT	0.423000													6	33					0	0	0.00198382	0	0
ZNF609	23060	broad.mit.edu	37	15	64967235	64967235	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:64967235A>G	ENST00000326648.3	+	4	2310	c.2182A>G	c.(2182-2184)Aaa>Gaa	p.K728E		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	728	Poly-Lys.					nucleus	zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CAAGGACAAGAAAAAGAAAGA	0.493000													13	83					0	0	0.00185496	0	0
DTX1	1840	broad.mit.edu	37	12	113532692	113532692	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:113532692C>T	ENST00000257600.3	+	6	1829	c.1326C>T	c.(1324-1326)ggC>ggT	p.G442G	DTX1_ENST00000547974.1_3'UTR	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex homolog 1 (Drosophila)	442					negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						GCCGCCTGGGCCGCTGTGGCC	0.642000													7	36					0	0	0.000673444	0	0
FLG	2312	broad.mit.edu	37	1	152281216	152281216	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:152281216C>T	ENST00000368799.1	-	3	6181	c.6146G>A	c.(6145-6147)gGa>gAa	p.G2049E	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2049	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)			TTCTGAATGTCCCTCACTGTC	0.562000									Ichthyosis				40	224					0	0	0.00128727	0	0
ATP8B2	57198	broad.mit.edu	37	1	154309862	154309862	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:154309862C>T	ENST00000368489.3	+	12	975	c.975C>T	c.(973-975)gcC>gcT	p.A325A	ATP8B2_ENST00000368487.3_Silent_p.A292A|ATP8B2_ENST00000341822.2_Silent_p.A311A|ATP8B2_ENST00000426445.1_3'UTR	NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	311					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TGATCCTGGCCATTGGCAATG	0.557000													18	74					0	0	0.00229938	0	0
LINC00521	256369	broad.mit.edu	37	14	94465975	94465975	+	RNA	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:94465975G>A	ENST00000444118.1	+	0	432					NR_024182.1																						GCTTTTTGAAGACTATCTGAT	0.532000													12	36					0	0	0.00400662	0	0
BTK	695	broad.mit.edu	37	X	100608324	100608324	+	Missense_Mutation	SNP	T	T	C	rs128621206		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:100608324T>C	ENST00000308731.7	-	18	1929	c.1766A>G	c.(1765-1767)gAa>gGa	p.E589G	BTK_ENST00000372880.1_Missense_Mutation_p.E413G	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	589	Protein kinase.		E -> D (in XLA).|E -> G (in XLA; moderate; interferes with substrate binding).|E -> K (in XLA).		calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						GGAGTAAATTTCCCACATCAA	0.433000									Agammaglobulinemia, X-linked				30	78					0	0	0.00209593	0	0
CCNB3	85417	broad.mit.edu	37	X	50089709	50089709	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:50089709G>A	ENST00000376042.1	+	10	4011	c.3713G>A	c.(3712-3714)cGa>cAa	p.R1238Q	CCNB3_ENST00000376038.1_Missense_Mutation_p.R134Q|CCNB3_ENST00000276014.7_Missense_Mutation_p.R1238Q|CCNB3_ENST00000348603.2_Missense_Mutation_p.R134Q			Q8WWL7	CCNB3_HUMAN	cyclin B3	1238					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)					AATTATCAGCGATCTGAGGTA	0.463000													17	44					0	0	0.00074312	0	0
LAMB4	22798	broad.mit.edu	37	7	107717394	107717394	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:107717394C>T	ENST00000388781.3	-	17	2202	c.2119G>A	c.(2119-2121)Gac>Aac	p.D707N	LAMB4_ENST00000205386.4_Missense_Mutation_p.D707N|LAMB4_ENST00000414450.2_Missense_Mutation_p.D707N|LAMB4_ENST00000388780.3_Missense_Mutation_p.D707N	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	707	Laminin IV type B.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						CTTACAGAGTCCACCAGGACA	0.388000													12	144					0	0	0.00136819	0	0
RIOK3	8780	broad.mit.edu	37	18	21044193	21044193	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:21044193C>T	ENST00000339486.3	+	4	966	c.349C>T	c.(349-351)Cga>Tga	p.R117*	RIOK3_ENST00000577501.1_Nonsense_Mutation_p.R117*|RIOK3_ENST00000581585.1_Nonsense_Mutation_p.R101*	NM_003831.3	NP_003822.2	O14730	RIOK3_HUMAN	RIO kinase 3	117					chromosome segregation		ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(2)	10	all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TGAAAATTATCGAAAAGTGCA	0.383000													10	60					0	0	0.000978159	0	0
MTBP	27085	broad.mit.edu	37	8	121530281	121530281	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:121530281A>T	ENST00000305949.1	+	19	2482	c.2437A>T	c.(2437-2439)Atg>Ttg	p.M813L		NM_022045.3	NP_071328.2	Q96DY7	MTBP_HUMAN	Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa	813	Interaction with MDM2 (By similarity).				cell cycle arrest					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			TCAAAAAAGTATGCATGAATC	0.373000													10	48					0	0	0.000673444	0	0
NOL4	8715	broad.mit.edu	37	18	31537309	31537309	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:31537309T>G	ENST00000261592.5	-	8	1706	c.1409A>C	c.(1408-1410)aAa>aCa	p.K470T	NOL4_ENST00000535475.1_Intron|NOL4_ENST00000269185.4_Intron|NOL4_ENST00000589544.1_Intron|NOL4_ENST00000538587.1_Missense_Mutation_p.K396T|NOL4_ENST00000535384.1_Missense_Mutation_p.K185T	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	470						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						ACCACTTCTTTTCATCCGCCT	0.418000													16	58					0	0	0.000958276	0	0
MYH8	4626	broad.mit.edu	37	17	10296170	10296170	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:10296170T>G	ENST00000403437.2	-	37	5535	c.5441A>C	c.(5440-5442)cAg>cCg	p.Q1814P	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1814					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TTTCTGGATCTGCTTCTTCCC	0.547000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				15	64					0	0	0.00152264	0	0
LIG1	3978	broad.mit.edu	37	19	48619177	48619177	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:48619177G>A	ENST00000263274.7	-	27	3048	c.2629C>T	c.(2629-2631)Cga>Tga	p.R877*	LIG1_ENST00000536218.1_Nonsense_Mutation_p.R809*|LIG1_ENST00000427526.2_Nonsense_Mutation_p.R846*	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	877					anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding	p.R877*(1)		breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	TCACGGACTCGAATAAACCGA	0.647000								Nucleotide excision repair (NER)					9	16					0	0	0.000442599	0	0
TAF3	83860	broad.mit.edu	37	10	8007196	8007196	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:8007196C>T	ENST00000344293.5	+	3	1929	c.1723C>T	c.(1723-1725)Ccc>Tcc	p.P575S		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	575	Lys-rich.				maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						AACAAAGTATCCCTGGAAGGA	0.378000													35	49					0	0	0.0024448	0	0
MUC16	94025	broad.mit.edu	37	19	9085838	9085838	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:9085838C>T	ENST00000397910.4	-	1	6180	c.5977G>A	c.(5977-5979)Gaa>Aaa	p.E1993K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1993	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						GAAACTTTTTCTGAAGAAACT	0.473000													10	38					0	0	0.000442599	0	0
CLVS2	134829	broad.mit.edu	37	6	123369870	123369870	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:123369870G>A	ENST00000275162.4	+	4	2003	c.668G>A	c.(667-669)cGg>cAg	p.R223Q	CLVS2_ENST00000368438.1_Missense_Mutation_p.R77Q	NM_001010852.2	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2	223	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						GAGAAAACTCGGAAAAGGGTA	0.378000													14	59					0	0	0.00400662	0	0
SART1	9092	broad.mit.edu	37	11	65732612	65732612	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:65732612G>A	ENST00000312397.5	+	4	569	c.477G>A	c.(475-477)atG>atA	p.M159I		NM_005146.4	NP_005137.1	O43290	SNUT1_HUMAN	squamous cell carcinoma antigen recognized by T cells	159					cell cycle arrest|induction of apoptosis by intracellular signals|positive regulation of cytotoxic T cell differentiation|spliceosomal snRNP assembly	Cajal body|catalytic step 2 spliceosome|cytosol				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						TCAACCCTATGGCCTTGCGAC	0.662000													4	33					0	0	0.00024832	0	0
SPHKAP	80309	broad.mit.edu	37	2	228883615	228883615	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:228883615G>A	ENST00000392056.3	-	7	2001	c.1955C>T	c.(1954-1956)tCa>tTa	p.S652L	SPHKAP_ENST00000344657.5_Missense_Mutation_p.S652L	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	652						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CTGAGACTTTGAAGCAGTTTC	0.463000													13	51					0	0	0.00136819	0	0
IL2RB	3560	broad.mit.edu	37	22	37524624	37524624	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr22:37524624C>T	ENST00000216223.5	-	10	1366	c.1168G>A	c.(1168-1170)Gaa>Aaa	p.E390K		NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN	interleukin 2 receptor, beta	390					interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	TCAGGGTCTTCCTCTGAGTAG	0.607000													11	28					0	0	0.00136819	0	0
TMPRSS11D	9407	broad.mit.edu	37	4	68703983	68703983	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:68703983C>T	ENST00000283916.6	-	5	480	c.382G>A	c.(382-384)Gga>Aga	p.G128R	TMPRSS11D_ENST00000509584.1_5'UTR|RP11-453E17.1_ENST00000500538.2_RNA|TMPRSS11D_ENST00000545541.1_Missense_Mutation_p.G11R	NM_004262.2	NP_004253.1	O60235	TM11D_HUMAN	transmembrane protease, serine 11D	128	SEA.				proteolysis|respiratory gaseous exchange	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						ATTGATGCTCCATTGTTATTT	0.328000													6	26					0	0	0.00116845	0	0
KCTD8	386617	broad.mit.edu	37	4	44177177	44177177	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:44177177G>A	ENST00000360029.3	-	2	1335	c.1052C>T	c.(1051-1053)tCc>tTc	p.S351F		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	351						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						CTCATTACAGGAAGTCCCACT	0.468000										HNSCC(17;0.042)			14	35					0	0	0.00244969	0	0
APOBEC3D	140564	broad.mit.edu	37	22	39427710	39427710	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr22:39427710G>A	ENST00000216099.7	+	6	1181	c.774G>A	c.(772-774)gaG>gaA	p.E258E	APOBEC3D_ENST00000381568.4_Silent_p.E258E|APOBEC3D_ENST00000427494.2_Silent_p.E74E	NM_152426.3	NP_689639.2	Q96AK3	ABC3D_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D	258					negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)	11	Melanoma(58;0.04)					TGGATCCTGAGACCCATTGTC	0.582000													23	77					0	0	0.00148497	0	0
NES	10763	broad.mit.edu	37	1	156640236	156640236	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:156640236C>T	ENST00000368223.3	-	4	3876	c.3744G>A	c.(3742-3744)ggG>ggA	p.G1248G		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	1248	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TCCCCTGCACCCCCCAGCTAG	0.662000													18	50					0	0	0.00278032	0	0
CASR	846	broad.mit.edu	37	3	122003307	122003307	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:122003307G>A	ENST00000498619.1	+	7	2974	c.2536G>A	c.(2536-2538)Gta>Ata	p.V846I	CASR_ENST00000490131.1_Missense_Mutation_p.V836I|CASR_ENST00000296154.5_Missense_Mutation_p.V836I	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	836					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)	TGTCTCTGCCGTAGAGGTGAT	0.498000													15	66					0	0	0.00316338	0	0
DIMT1	27292	broad.mit.edu	37	5	61689822	61689822	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:61689822C>T	ENST00000199320.4	-	8	783	c.623G>A	c.(622-624)aGg>aAg	p.R208K	DIMT1_ENST00000506390.1_Missense_Mutation_p.R208K|KIF2A_ENST00000509663.2_Intron	NM_014473.2	NP_055288.1	Q9UNQ2	DIMT1_HUMAN	DIM1 dimethyladenosine transferase 1 homolog (S. cerevisiae)	208						nucleolus	RNA binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity										AGGTTCTATCCTTACAACACT	0.393000													20	68					0	0	0.00395357	0	0
DDX43	55510	broad.mit.edu	37	6	74123753	74123753	+	Silent	SNP	A	A	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:74123753A>C	ENST00000370336.4	+	13	1715	c.1557A>C	c.(1555-1557)ggA>ggC	p.G519G	MB21D1_ENST00000370318.1_Intron	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43	519	Helicase C-terminal.					intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						CTCTGCATGGAGATAGAGAAC	0.343000													13	18					0	0	0.00316338	0	0
COL14A1	7373	broad.mit.edu	37	8	121209146	121209146	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:121209146G>A	ENST00000297848.3	+	6	823	c.553G>A	c.(553-555)Gtt>Att	p.V185I	COL14A1_ENST00000537875.1_Missense_Mutation_p.V185I|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000247781.3_Missense_Mutation_p.V185I|COL14A1_ENST00000309791.4_Missense_Mutation_p.V185I	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	185	VWFA 1.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GGAAAACCTGGTTACAGCATT	0.418000													31	169					0	0	0.00283554	0	0
TENM4	26011	broad.mit.edu	37	11	78380703	78380703	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:78380703C>T	ENST00000278550.7	-	32	7149	c.6687G>A	c.(6685-6687)ggG>ggA	p.G2229G		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		GTGCACTGTTCCCAGGGCTCA	0.567000													31	44					0	0	0.0024448	0	0
CDH18	1016	broad.mit.edu	37	5	19473750	19473750	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:19473750T>A	ENST00000507958.1	-	15	2948	c.1958A>T	c.(1957-1959)gAg>gTg	p.E653V	CDH18_ENST00000510297.1_5'UTR|CDH18_ENST00000382275.1_Missense_Mutation_p.E653V|CDH18_ENST00000506372.1_3'UTR|CDH18_ENST00000502796.1_3'UTR|CDH18_ENST00000274170.4_Missense_Mutation_p.E653V			Q13634	CAD18_HUMAN	cadherin 18, type 2	653					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)					GACCACGTTCTCCCGTACATC	0.483000													24	123					0	0	0.00395357	0	0
CHL1	10752	broad.mit.edu	37	3	430960	430960	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:430960G>A	ENST00000256509.2	+	20	2915	c.2273G>A	c.(2272-2274)gGa>gAa	p.G758E	CHL1_ENST00000397491.2_Missense_Mutation_p.G742E	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	742	Fibronectin type-III 2.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		gagcagaatggaccaggccta	0.498000													3	5					0	0	6.4e-05	0	0
OXA1L	5018	broad.mit.edu	37	14	23235899	23235899	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:23235899C>T	ENST00000285848.5	+	1	169	c.169C>T	c.(169-171)Ctt>Ttt	p.L57F	OXA1L_ENST00000604262.1_5'UTR	NM_005015.3	NP_005006.3	Q15070	OXA1L_HUMAN	oxidase (cytochrome c) assembly 1-like	0					aerobic respiration|mitochondrial proton-transporting ATP synthase complex assembly|mitochondrial respiratory chain complex I assembly|negative regulation of ATPase activity|negative regulation of oxidoreductase activity|protein insertion into membrane|protein tetramerization	integral to mitochondrial membrane|mitochondrial respiratory chain|protein complex	protein homodimerization activity|ribosome binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|skin(2)	19	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.0096)		AGCAAGTCCTCTTCCGGGCAA	0.607000													15	56					0	0	0.00400662	0	0
CUBN	8029	broad.mit.edu	37	10	17156160	17156160	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:17156160C>T	ENST00000377833.4	-	8	814	c.749G>A	c.(748-750)gGg>gAg	p.G250E		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	250					cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AAACATCCACCCAGCATCACA	0.512000													4	14					0	0	0.00116845	0	0
TTBK2	146057	broad.mit.edu	37	15	43044692	43044692	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:43044692G>A	ENST00000267890.6	-	14	2860	c.2752C>T	c.(2752-2754)Cat>Tat	p.H918Y		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	918					cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		GAAACACAATGAAATAGTTCT	0.448000													33	35					0	0	0.00375469	0	0
ITGAM	3684	broad.mit.edu	37	16	31332933	31332933	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:31332933G>A	ENST00000544665.3	+	16	2061	c.1990G>A	c.(1990-1992)Gat>Aat	p.D664N	ITGAM_ENST00000287497.8_Missense_Mutation_p.D663N	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	663					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						GAGCACACGGGATCGGCTAAG	0.532000													11	33					0	0	0.000673444	0	0
TXNRD2	10587	broad.mit.edu	37	22	19870984	19870984	+	Splice_Site	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr22:19870984C>T	ENST00000535882.1	-	12	946	c.946_splice	c.e12-1	p.G316_splice	TXNRD2_ENST00000400525.1_Splice_Site_p.G294_splice|TXNRD2_ENST00000400521.1_Splice_Site_p.G317_splice|TXNRD2_ENST00000400518.1_Splice_Site_p.G287_splice|TXNRD2_ENST00000542719.1_Splice_Site_p.G287_splice|TXNRD2_ENST00000400519.1_Splice_Site_p.G316_splice			Q9NNW7	TRXR2_HUMAN	thioredoxin reductase 2	317					cell redox homeostasis|response to oxygen radical	mitochondrion	flavin adenine dinucleotide binding|NADP binding|thioredoxin-disulfide reductase activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30	Colorectal(54;0.0993)					TGGGACTCGACCTGAAGGAAA	0.517000													9	71					0	0	0.000978159	0	0
BEND2	139105	broad.mit.edu	37	X	18213513	18213513	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:18213513C>T	ENST00000380033.4	-	7	1215	c.1083G>A	c.(1081-1083)gtG>gtA	p.V361V	BEND2_ENST00000380030.3_Intron	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	361										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						AGTTATTTTCCACGTTGGTTT	0.373000													12	35					0	0	0.00136819	0	0
ANKHD1	54882	broad.mit.edu	37	5	139815696	139815696	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:139815696C>T	ENST00000297183.6	+	2	438	c.314C>T	c.(313-315)tCa>tTa	p.S105L	ANKHD1_ENST00000394723.3_Missense_Mutation_p.S105L|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.S105L|ANKHD1_ENST00000394722.3_Missense_Mutation_p.S105L|ANKHD1_ENST00000360839.2_Missense_Mutation_p.S105L	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGGTTGAATCATTTATTTTG	0.318000													8	20					0	0	0.000274275	0	0
GAD2	2572	broad.mit.edu	37	10	26508016	26508016	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:26508016C>T	ENST00000376261.3	+	4	834	c.331C>T	c.(331-333)Ctg>Ttg	p.L111L	GAD2_ENST00000259271.3_Silent_p.L111L|GAD2_ENST00000376248.1_5'UTR	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	111					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	TTTGGCGTTTCTGCAAGATGT	0.368000													9	65					0	0	0.000673444	0	0
USH2A	7399	broad.mit.edu	37	1	215853563	215853563	+	Silent	SNP	T	T	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:215853563T>A	ENST00000366943.2	-	62	12608	c.12222A>T	c.(12220-12222)gtA>gtT	p.V4074V	USH2A_ENST00000307340.3_Silent_p.V4074V			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4074	Fibronectin type-III 26.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CTTTCTGTTCTACTATAAAGT	0.418000										HNSCC(13;0.011)			8	58					0	0	0.00307968	0	0
OR5AK2	390181	broad.mit.edu	37	11	56757188	56757188	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:56757188C>T	ENST00000326855.2	+	1	842	c.800C>T	c.(799-801)tCc>tTc	p.S267F		NM_001005323.1	NP_001005323.1	Q8NH90	O5AK2_HUMAN	olfactory receptor, family 5, subfamily AK, member 2	267					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						TCTAATAATTCCCAGGAAAAT	0.363000													7	39					0	0	0.000274275	0	0
TNFRSF4	7293	broad.mit.edu	37	1	1147411	1147411	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:1147411G>A	ENST00000379236.3	-	5	549	c.545C>T	c.(544-546)cCc>cTc	p.P182L	TNFRSF4_ENST00000453580.1_5'UTR	NM_003327.3	NP_003318.1	P43489	TNR4_HUMAN	tumor necrosis factor receptor superfamily, member 4	182					immune response|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of immunoglobulin secretion|T cell proliferation	integral to plasma membrane	tumor necrosis factor receptor activity			large_intestine(1)|lung(2)|urinary_tract(1)	4	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CCTGGCCGGGGGGCCCTGGGT	0.706000													8	20					0	0	0.000442599	0	0
CCT6P3	643180	broad.mit.edu	37	7	64530026	64530026	+	RNA	SNP	A	A	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:64530026A>C	ENST00000426828.1	+	0	858					NR_033416.1																						TTTCCCTTAAAATGCTATTTC	0.398000													8	24					0	0	0.000274275	0	0
OR9G4	283189	broad.mit.edu	37	11	56510580	56510580	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:56510580G>A	ENST00000302957.3	-	1	707	c.708C>T	c.(706-708)atC>atT	p.I236I		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	236					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						TAGCCAGGAGGATGTTGACAT	0.488000													10	66					0	0	0.000673444	0	0
FAM171B	165215	broad.mit.edu	37	2	187626805	187626805	+	Missense_Mutation	SNP	G	G	A	rs145287585		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:187626805G>A	ENST00000304698.5	+	8	1939	c.1736G>A	c.(1735-1737)cGa>cAa	p.R579Q		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	579						integral to membrane	DNA binding			NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						CCAGTAAATCGAGAGAACTTT	0.458000													7	11					0	0	0.000274275	0	0
ZNF318	24149	broad.mit.edu	37	6	43308574	43308574	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:43308574G>A	ENST00000361428.2	-	9	3526	c.3449C>T	c.(3448-3450)tCt>tTt	p.S1150F	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1150					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			TTGCTCCCCAGAAATTGGATC	0.413000													41	51					0	0	0.00321405	0	0
FLT1	2321	broad.mit.edu	37	13	29005400	29005400	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr13:29005400G>A	ENST00000282397.4	-	7	1112	c.861C>T	c.(859-861)tcC>tcT	p.S287S	FLT1_ENST00000541932.1_Silent_p.S287S|FLT1_ENST00000539099.1_Silent_p.S287S	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	287	Ig-like C2-type 3.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	TGTTGGCATGGGAATTGCTTT	0.363000													10	33					0	0	0.000673444	0	0
TCEAL6	158931	broad.mit.edu	37	X	101396161	101396161	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:101396161C>T	ENST00000372774.3	-	3	392	c.143G>A	c.(142-144)cGa>cAa	p.R48Q	TCEAL6_ENST00000372773.1_Missense_Mutation_p.R48Q	NM_001006938.2	NP_001006939.2	Q6IPX3	TCAL6_HUMAN	transcription elongation factor A (SII)-like 6	48	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	14						ctcagcctttcgctttccctc	0.547000													9	18					0	0	0.000274275	0	0
GJA8	2703	broad.mit.edu	37	1	147380093	147380093	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:147380093G>A	ENST00000240986.4	+	2	64	c.11G>A	c.(10-12)tGg>tAg	p.W4*	GJA8_ENST00000369235.1_Nonsense_Mutation_p.W4*	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	4					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					ATGGGCGACTGGAGTTTCCTG	0.537000													34	42					0	0	0.00170553	0	0
DUSP14	11072	broad.mit.edu	37	17	35872649	35872649	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:35872649C>T	ENST00000487847.1	+	2	1253	c.275C>T	c.(274-276)aCc>aTc	p.T92I	DUSP14_ENST00000394386.1_Missense_Mutation_p.T92I|DUSP14_ENST00000394389.4_Missense_Mutation_p.T92I			O95147	DUS14_HUMAN	dual specificity phosphatase 14	92	Tyrosine-protein phosphatase.						MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|urinary_tract(1)	9		Breast(25;0.00637)|Ovarian(249;0.15)				TACTTTGACACCGTGGCTGAC	0.557000													15	59					0	0	0.00400662	0	0
TRIM68	55128	broad.mit.edu	37	11	4626489	4626489	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:4626489G>A	ENST00000300747.5	-	2	535	c.246C>T	c.(244-246)gtC>gtT	p.V82V		NM_018073.6	NP_060543.5	Q6AZZ1	TRI68_HUMAN	tripartite motif containing 68	82					protein autoubiquitination|regulation of androgen receptor signaling pathway	Golgi apparatus|nucleolus|perinuclear region of cytoplasm	androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		TTAGCAGACGGACTTTTTCTA	0.527000													18	84					0	0	0.000958276	0	0
SYPL2	284612	broad.mit.edu	37	1	110018237	110018237	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:110018237C>T	ENST00000369872.3	+	3	380	c.164C>T	c.(163-165)tCc>tTc	p.S55F	SYPL2_ENST00000475497.1_3'UTR|SYPL2_ENST00000401021.3_Missense_Mutation_p.S55F	NM_001040709.1	NP_001035799.1	Q5VXT5	SYPL2_HUMAN	synaptophysin-like 2	55	MARVEL.					integral to membrane|synaptic vesicle	transporter activity			breast(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0436)|READ - Rectum adenocarcinoma(129;0.0698)|Epithelial(280;0.0808)|all cancers(265;0.0869)|LUSC - Lung squamous cell carcinoma(189;0.231)		TCCTGTGGCTCCTACAGCGGG	0.532000													38	169					0	0	0.00222228	0	0
STAB2	55576	broad.mit.edu	37	12	104033936	104033936	+	Silent	SNP	C	C	T	rs144975292		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:104033936C>T	ENST00000388887.2	+	9	1146	c.942C>T	c.(940-942)ttC>ttT	p.F314F		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	314					angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	p.F314F(1)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						ACCAGAATTTCGTACCTGGAG	0.448000													27	44					0	0	0.001512	0	0
FAM129A	116496	broad.mit.edu	37	1	184765049	184765049	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:184765049C>T	ENST00000367511.3	-	14	2042	c.1849G>A	c.(1849-1851)Gaa>Aaa	p.E617K	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	617					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						TGGAATACTTCGTTACTGAGG	0.572000													16	53					0	0	0.00074312	0	0
ART4	420	broad.mit.edu	37	12	14982369	14982369	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:14982369G>A	ENST00000228936.4	-	3	1262	c.881C>T	c.(880-882)cCt>cTt	p.P294L	C12orf60_ENST00000527783.1_Intron	NM_021071.2	NP_066549.2	Q93070	NAR4_HUMAN	ADP-ribosyltransferase 4	294					arginine metabolic process|protein ADP-ribosylation	anchored to membrane|plasma membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity			large_intestine(5)|liver(1)|lung(3)|prostate(1)|skin(2)|stomach(3)	15						AATAGCTATAGGATCAGGGAT	0.323000													15	42					0	0	0.00074312	0	0
IFT74	80173	broad.mit.edu	37	9	26978173	26978173	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:26978173G>A	ENST00000443698.1	+	3	339	c.168G>A	c.(166-168)ggG>ggA	p.G56G	IFT74_ENST00000380062.5_Silent_p.G56G|IFT74_ENST00000433700.1_Silent_p.G56G|IFT74_ENST00000429045.2_Silent_p.G56G	NM_001099222.1	NP_001092692.1	Q96LB3	IFT74_HUMAN	intraflagellar transport 74 homolog (Chlamydomonas)	56						cytoplasmic membrane-bounded vesicle|intraflagellar transport particle B|microtubule-based flagellum				endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6		all_neural(11;2.36e-10)		Lung(218;1.4e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114)		GTCCCATAGGGACTGGTGGAG	0.423000													12	9					0	0	0.00136819	0	0
SLC6A9	6536	broad.mit.edu	37	1	44466677	44466677	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:44466677G>A	ENST00000372310.3	-	11	1551	c.1386C>T	c.(1384-1386)tcC>tcT	p.S462S	SLC6A9_ENST00000357730.2_Silent_p.S481S|SLC6A9_ENST00000475075.2_Silent_p.S351S|SLC6A9_ENST00000360584.2_Silent_p.S535S|SLC6A9_ENST00000372307.3_Silent_p.S397S|SLC6A9_ENST00000372306.3_Silent_p.S462S|SLC6A9_ENST00000537678.1_3'UTR	NM_001024845.2	NP_001020016.1	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	535						integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	TGACCACCAAGGAGAAGCTGG	0.652000													12	18					0	0	0.00136819	0	0
KLHL40	131377	broad.mit.edu	37	3	42729765	42729765	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:42729765C>T	ENST00000287777.4	+	2	1384	c.1284C>T	c.(1282-1284)tgC>tgT	p.C428C		NM_152393.2	NP_689606.2			kelch-like family member 40																		GCGAGCGCTGCCTGGACTCGG	0.662000													9	17					0	0	0.000978159	0	0
KCNJ2	3759	broad.mit.edu	37	17	68171507	68171507	+	Silent	SNP	C	C	T	rs140274795		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:68171507C>T	ENST00000243457.3	+	2	710	c.327C>T	c.(325-327)ctC>ctT	p.L109L	KCNJ2_ENST00000535240.1_Silent_p.L109L	NM_000891.2	NP_000882.1	P63252	IRK2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	109					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					TAGCTCTGCTCCATGGGGACC	0.532000													22	52					0	0	0.00332997	0	0
VWA5A	4013	broad.mit.edu	37	11	124007356	124007356	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:124007356C>T	ENST00000456829.2	+	14	1851	c.1600C>T	c.(1600-1602)Cct>Tct	p.P534S	VWA5A_ENST00000360334.4_Intron|VWA5A_ENST00000392748.1_Missense_Mutation_p.P534S	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	534										autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						GGTGACATTTCCTCTACAACC	0.443000													14	66					0	0	0.00316338	0	0
CRAMP1L	57585	broad.mit.edu	37	16	1703084	1703084	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:1703084C>T	ENST00000397412.3	+	8	1063	c.964C>T	c.(964-966)Cct>Tct	p.P322S	LA16c-431H6.6_ENST00000454337.1_3'UTR|CRAMP1L_ENST00000436138.3_Missense_Mutation_p.P319S|CRAMP1L_ENST00000293925.5_Missense_Mutation_p.P322S			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	322						nucleus	DNA binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						TCTGAAAGTCCCTATAGAGCT	0.572000													5	13					0	0	0.00116845	0	0
SERPINE3	647174	broad.mit.edu	37	13	51915300	51915300	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr13:51915300G>A	ENST00000524365.1	+	4	698	c.73G>A	c.(73-75)Gga>Aga	p.G25R	SERPINE3_ENST00000521255.1_Missense_Mutation_p.G25R|SERPINE3_ENST00000400389.4_Missense_Mutation_p.G25R			A8MV23	SERP3_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 3	25					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)	2						CCTCCGTGAAGGAATGACATT	0.532000													5	26					0	0	0.000602214	0	0
MARCO	8685	broad.mit.edu	37	2	119727718	119727718	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:119727718C>T	ENST00000327097.4	+	3	363	c.228C>T	c.(226-228)gtC>gtT	p.V76V	MARCO_ENST00000541757.1_5'UTR	NM_006770.3	NP_006761.1	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	76					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						GGCTCCGGGTCCTGGAGATGT	0.567000													10	32					0	0	0.000978159	0	0
CHD6	84181	broad.mit.edu	37	20	40034031	40034031	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:40034031G>A	ENST00000373233.3	-	37	7527	c.7350C>T	c.(7348-7350)ctC>ctT	p.L2450L	CHD6_ENST00000480022.1_5'UTR	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2450					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GAGCCTTCAGGAGTTCGCTCC	0.557000													11	26					0	0	0.000978159	0	0
PCLO	27445	broad.mit.edu	37	7	82580168	82580168	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:82580168G>A	ENST00000423517.2	-	6	10073	c.9736C>T	c.(9736-9738)Cga>Tga	p.R3246*	PCLO_ENST00000333891.8_Nonsense_Mutation_p.R3246*	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3177	Gln-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.R3246R(2)|p.R3177R(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TCTTGTTCTCGGAACCTTTGA	0.473000													70	31					0	0	0.00361006	0	0
OR11G2	390439	broad.mit.edu	37	14	20665672	20665672	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:20665672G>A	ENST00000357366.3	+	1	178	c.178G>A	c.(178-180)Gag>Aag	p.E60K		NM_001005503.1	NP_001005503.1	Q8NGC1	O11G2_HUMAN	olfactory receptor, family 11, subfamily G, member 2	60					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		TTGCCCCAGGGAGGGGCAGAT	0.527000													4	10					0	0	0.00024832	0	0
MNT	4335	broad.mit.edu	37	17	2290583	2290583	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:2290583G>A	ENST00000174618.4	-	6	1766	c.1361C>T	c.(1360-1362)aCt>aTt	p.T454I		NM_020310.2	NP_064706.1	Q99583	MNT_HUMAN	MAX network transcriptional repressor	454					multicellular organismal development|negative regulation of cell proliferation|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			endometrium(4)|large_intestine(5)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	12				Colorectal(2;1.37e-05)|READ - Rectum adenocarcinoma(2;8.68e-05)		GTGGTTCACAGTCTGGATGAC	0.687000													13	25					0	0	0.00400662	0	0
CSMD1	64478	broad.mit.edu	37	8	3611545	3611545	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:3611545G>A	ENST00000602557.1	-	6	1393	c.838C>T	c.(838-840)Ccc>Tcc	p.P280S	CSMD1_ENST00000537824.1_Missense_Mutation_p.P280S|CSMD1_ENST00000542608.1_Missense_Mutation_p.P280S|CSMD1_ENST00000539096.1_Missense_Mutation_p.P280S|CSMD1_ENST00000400186.3_Missense_Mutation_p.P280S|CSMD1_ENST00000520002.1_Missense_Mutation_p.P280S|CSMD1_ENST00000602723.1_Missense_Mutation_p.P280S			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	280	CUB 2.					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)		ACTGGAGAGGGGAGGTTCATG	0.453000													8	38					0	0	0.00307968	0	0
PCDHGA4	56111	broad.mit.edu	37	5	140736453	140736453	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:140736453C>T	ENST00000571252.1	+	1	1686	c.1686C>T	c.(1684-1686)atC>atT	p.I562I	PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018917.2	NP_061740.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCCTGAGATCCTGTACCCCA	0.582000													10	94					0	0	0.000978159	0	0
SH3KBP1	30011	broad.mit.edu	37	X	19564142	19564142	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:19564142G>C	ENST00000397821.3	-	15	1811	c.1521C>G	c.(1519-1521)ttC>ttG	p.F507L	SH3KBP1_ENST00000541422.1_Missense_Mutation_p.F246L|SH3KBP1_ENST00000379716.1_Missense_Mutation_p.F269L|SH3KBP1_ENST00000379698.4_Missense_Mutation_p.F470L	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	507					apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						TTGGGGAGTCGAAGATATCAG	0.438000													6	31					0	0	0.000274275	0	0
EXOSC8	11340	broad.mit.edu	37	13	37581124	37581124	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr13:37581124C>T	ENST00000389704.3	+	8	668	c.403C>T	c.(403-405)Cta>Tta	p.L135L		NM_181503.2	NP_852480.1	Q96B26	EXOS8_HUMAN	exosome component 8	135					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus	AU-rich element binding|identical protein binding			biliary_tract(1)|breast(1)|kidney(2)|pancreas(1)|prostate(1)|skin(1)	7		Lung NSC(96;6.57e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.67e-07)|Epithelial(112;1.31e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00699)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0411)		TGTCTGGGTTCTATACTGTGA	0.378000													20	46					0	0	0.00229938	0	0
NRCAM	4897	broad.mit.edu	37	7	107818488	107818488	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:107818488G>A	ENST00000379028.3	-	26	3391	c.2921C>T	c.(2920-2922)cCa>cTa	p.P974L	NRCAM_ENST00000413765.2_Missense_Mutation_p.P955L|NRCAM_ENST00000379022.4_Missense_Mutation_p.P974L|NRCAM_ENST00000379024.4_Missense_Mutation_p.P955L|NRCAM_ENST00000425651.2_Missense_Mutation_p.P974L|NRCAM_ENST00000351718.4_Missense_Mutation_p.P958L			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	974	Fibronectin type-III 4.				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						GTGGCTCGGTGGATCCCATTC	0.438000													8	45					0	0	0.00307968	0	0
ZNF253	56242	broad.mit.edu	37	19	20002943	20002943	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:20002943C>T	ENST00000589717.1	+	4	979	c.887C>T	c.(886-888)cCc>cTc	p.P296L	ZNF253_ENST00000355650.4_Missense_Mutation_p.P220L	NM_021047.2	NP_066385.2	O75346	ZN253_HUMAN	zinc finger protein 253	296				Missing (in Ref. 1; AAC26844).|Missing (in Ref. 2; BAC11185).	negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTTAAGCACCCCTCACACGTT	0.408000													4	17					0	0	0.00024832	0	0
GYS2	2998	broad.mit.edu	37	12	21695464	21695464	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:21695464G>A	ENST00000261195.2	-	13	1865	c.1611C>T	c.(1609-1611)ttC>ttT	p.F537F		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	537					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						GCTCCTGCATGAAACAGCCAA	0.522000													7	15					0	0	0.00307968	0	0
ZNF733P	643955	broad.mit.edu	37	7	62752285	62752285	+	RNA	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:62752285G>A	ENST00000331425.6	-	0	1150					NR_003952.1																						AGTAAGTGCTGAGGAGCGCCT	0.438000													6	36					0	0	0.00307968	0	0
OR52K1	390036	broad.mit.edu	37	11	4510188	4510188	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:4510188C>T	ENST00000307632.3	+	1	80	c.58C>T	c.(58-60)Cct>Tct	p.P20S		NM_001005171.2	NP_001005171.2	Q8NGK4	O52K1_HUMAN	olfactory receptor, family 52, subfamily K, member 1	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1)	32		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)		GGTAGGAATTCCTGGTTTGGA	0.473000													20	76					0	0	0.00332997	0	0
DSG1	1828	broad.mit.edu	37	18	28926100	28926100	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:28926100C>T	ENST00000257192.4	+	14	2251	c.2039C>T	c.(2038-2040)tCt>tTt	p.S680F	DSG1_ENST00000462981.2_Missense_Mutation_p.S39F|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578119.1_RNA	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	680					calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding	p.S680Y(1)		NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			AGAAGAAATTCTATGAGGGAA	0.418000													22	42					0	0	0.000720815	0	0
VPS45	11311	broad.mit.edu	37	1	150049782	150049782	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:150049782C>T	ENST00000369130.3	+	7	1158	c.612C>T	c.(610-612)ttC>ttT	p.F204F	VPS45_ENST00000369128.5_Silent_p.F99F|VPS45_ENST00000535106.1_Silent_p.F135F	NM_007259.3	NP_009190.2	Q9NRW7	VPS45_HUMAN	vacuolar protein sorting 45 homolog (S. cerevisiae)	204					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)			TGTTTGAATTCCGTCGGACAG	0.393000													7	43					0	0	0.00307968	0	0
ZNRF3	84133	broad.mit.edu	37	22	29445492	29445492	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr22:29445492C>T	ENST00000544604.2	+	8	1498	c.1323C>T	c.(1321-1323)tcC>tcT	p.S441S	ZNRF3_ENST00000402174.1_Silent_p.S341S|ZNRF3_ENST00000406323.3_Silent_p.S341S|ZNRF3_ENST00000332811.4_Silent_p.S341S	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	441						integral to membrane	zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						GGGCCTACTCCCCAGCCCACC	0.652000													5	22					0	0	0.000602214	0	0
AKAP1	8165	broad.mit.edu	37	17	55183565	55183565	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:55183565A>T	ENST00000337714.3	+	2	973	c.740A>T	c.(739-741)aAg>aTg	p.K247M	AKAP1_ENST00000539273.1_Missense_Mutation_p.K247M|AKAP1_ENST00000571629.1_Missense_Mutation_p.K247M|AKAP1_ENST00000314126.3_Missense_Mutation_p.K247M|AKAP1_ENST00000572557.1_Missense_Mutation_p.K247M	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	247					blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					GATAAGGGGAAGAGCAGCTCA	0.552000													18	91					0	0	0.00152264	0	0
OR6B1	135946	broad.mit.edu	37	7	143701904	143701904	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:143701904T>A	ENST00000408922.2	+	1	883	c.815T>A	c.(814-816)aTt>aAt	p.I272N		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	272					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					AACAAAATTATTTCCATCTTC	0.418000													64	32					0	0	0.00361006	0	0
ACOXL	55289	broad.mit.edu	37	2	111666426	111666426	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:111666426G>A	ENST00000389811.4	+	11	1073	c.849G>A	c.(847-849)caG>caA	p.Q283Q	ACOXL_ENST00000439055.1_Silent_p.Q283Q			Q9NUZ1	ACOXL_HUMAN	acyl-CoA oxidase-like	283					fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						ACCAAACACAGACCCTGCGGC	0.532000													28	35					0	0	0.00283554	0	0
ATG2A	23130	broad.mit.edu	37	11	64665342	64665342	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:64665342A>G	ENST00000421419.2	-	35	5083	c.4969T>C	c.(4969-4971)Tcc>Ccc	p.S1657P	ATG2A_ENST00000377264.3_Missense_Mutation_p.S1655P			Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1655							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						TCAGGAGGGGAGGGGCTGTGT	0.682000													4	15					0	0	0.00024832	0	0
OR4C15	81309	broad.mit.edu	37	11	55322893	55322893	+	Nonstop_Mutation	SNP	T	T	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:55322893T>C	ENST00000314644.2	+	1	1111	c.1111T>C	c.(1111-1113)Taa>Caa	p.*371Q		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	0					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						TATTAAACTTTAAAAAATCCA	0.303000										HNSCC(20;0.049)			4	16					0	0	0.00024832	0	0
FIGNL1	63979	broad.mit.edu	37	7	50513288	50513288	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:50513288G>A	ENST00000419119.1	-	2	3251	c.1698C>T	c.(1696-1698)ccC>ccT	p.P566P	FIGNL1_ENST00000433017.1_Silent_p.P566P|FIGNL1_ENST00000356889.4_Silent_p.P566P|FIGNL1_ENST00000395556.2_Silent_p.P566P			Q6PIW4	FIGL1_HUMAN	fidgetin-like 1	566					ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle	cytoplasm|nucleus	ATP binding|magnesium ion binding|nucleoside-triphosphatase activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				CTTCTGGGAGGGGAATATAAA	0.438000													18	69					0	0	0.000958276	0	0
SAMD9L	219285	broad.mit.edu	37	7	92764573	92764573	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:92764573G>A	ENST00000318238.4	-	5	1928	c.712C>T	c.(712-714)Cat>Tat	p.H238Y	SAMD9L_ENST00000437805.1_Missense_Mutation_p.H238Y|SAMD9L_ENST00000411955.1_Missense_Mutation_p.H238Y	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	238										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			ACTCCAAAATGGATGGTGCCA	0.418000													8	53					0	0	0.00307968	0	0
OR10R2	343406	broad.mit.edu	37	1	158450377	158450377	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:158450377C>T	ENST00000368152.1	+	1	710	c.710C>T	c.(709-711)tCt>tTt	p.S237F	RP11-144L1.4_ENST00000426251.1_RNA|RP11-144L1.4_ENST00000419738.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	237					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					ATCTGTGTTTCTTATCTCTGC	0.433000													15	46					0	0	0.00244969	0	0
ANPEP	290	broad.mit.edu	37	15	90335429	90335429	+	Silent	SNP	T	T	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:90335429T>G	ENST00000300060.6	-	18	2803	c.2490A>C	c.(2488-2490)gcA>gcC	p.A830A		NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	830	Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	AGGCCAGGGCTGCCCGGAGCT	0.632000													9	28					0	0	0.000673444	0	0
PEX1	5189	broad.mit.edu	37	7	92129126	92129126	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:92129126G>A	ENST00000248633.4	-	16	2705	c.2610C>T	c.(2608-2610)ccC>ccT	p.P870P	PEX1_ENST00000428214.1_Silent_p.P813P|PEX1_ENST00000541751.1_3'UTR|PEX1_ENST00000438045.1_Silent_p.P548P	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	870					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			TTTGTCGTATGGGCAAGTTTG	0.358000													20	110					0	0	0.00152264	0	0
STAP1	26228	broad.mit.edu	37	4	68459022	68459022	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:68459022G>A	ENST00000265404.2	+	8	856	c.774G>A	c.(772-774)aaG>aaA	p.K258K	STAP1_ENST00000396225.1_Silent_p.K258K	NM_012108.2	NP_036240.1	Q9ULZ2	STAP1_HUMAN	signal transducing adaptor family member 1	258	SH2.				cellular membrane fusion|intracellular protein transport	cytoplasm				NS(1)|large_intestine(1)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	12						ATTTTGTGAAGGAGACTCGAG	0.338000													16	87					0	0	0.00074312	0	0
MDC1	9656	broad.mit.edu	37	6	30672849	30672849	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:30672849G>A	ENST00000376406.3	-	10	4758	c.4111C>T	c.(4111-4113)Cct>Tct	p.P1371S	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Missense_Mutation_p.P1107S	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1371	Interaction with the PRKDC complex.|Pro-rich.				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding	p.P1371T(1)		breast(2)|kidney(1)|ovary(1)	4						GGGAGCTCAGGGGCTATAGGG	0.552000								Other conserved DNA damage response genes					21	152					0	0	0.000720815	0	0
SLC14A2	8170	broad.mit.edu	37	18	43249278	43249278	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:43249278C>T	ENST00000255226.6	+	16	2860	c.2044C>T	c.(2044-2046)Ctc>Ttc	p.L682F	SLC14A2_ENST00000586448.1_Missense_Mutation_p.L682F|SLC14A2_ENST00000589658.1_Missense_Mutation_p.L159F	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	682						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CAGCCCCATCCTCTCCAGTGC	0.572000													7	66					0	0	0.00307968	0	0
PROX1	5629	broad.mit.edu	37	1	214170305	214170305	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:214170305C>T	ENST00000366958.4	+	2	1035	c.427C>T	c.(427-429)Cct>Tct	p.P143S	PROX1_ENST00000261454.4_Missense_Mutation_p.P143S|PROX1_ENST00000498508.2_Missense_Mutation_p.P143S|PROX1_ENST00000435016.1_Missense_Mutation_p.P143S	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	143					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding	p.P143S(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		GTGTCTTTCCCCTTTTGGCAG	0.507000													18	86					0	0	0.00188189	0	0
LIN54	132660	broad.mit.edu	37	4	83858424	83858424	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:83858424C>T	ENST00000340417.3	-	9	1937	c.1560G>A	c.(1558-1560)cgG>cgA	p.R520R	LIN54_ENST00000395283.2_Silent_p.R431R|LIN54_ENST00000505397.1_Silent_p.R520R|LIN54_ENST00000506560.1_Silent_p.R431R|LIN54_ENST00000446851.2_Silent_p.R299R|LIN54_ENST00000510557.1_Silent_p.R299R|LIN54_ENST00000395282.2_3'UTR|LIN54_ENST00000442461.2_Silent_p.R299R	NM_194282.2	NP_919258.2	Q6MZP7	LIN54_HUMAN	lin-54 homolog (C. elegans)	520	CXC 1.				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)	14		Hepatocellular(203;0.114)				GCTTTCGGGGCCGACTGGCCG	0.313000													31	133					0	0	0.00375469	0	0
KIF9	64147	broad.mit.edu	37	3	47307352	47307352	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:47307352G>A	ENST00000335044.2	-	8	1141	c.784C>T	c.(784-786)Ctg>Ttg	p.L262L	KIF9_ENST00000487440.1_5'UTR|KIF9_ENST00000265529.3_Silent_p.L262L|KIF9_ENST00000352910.4_Silent_p.L169L|KIF9_ENST00000444589.2_Silent_p.L262L|KIF9_ENST00000452770.2_Silent_p.L262L	NM_001134878.1|NM_182902.3	NP_001128350.1|NP_878905.2	Q9HAQ2	KIF9_HUMAN	kinesin family member 9	262	Kinesin-motor.				blood coagulation|microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		GCTTCCTTCAGGACTTGGCCC	0.522000													18	71					0	0	0.00229938	0	0
CNTNAP2	26047	broad.mit.edu	37	7	148112653	148112653	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:148112653A>G	ENST00000361727.3	+	24	4457	c.3941A>G	c.(3940-3942)aAc>aGc	p.N1314S	CNTNAP2_ENST00000538075.1_Missense_Mutation_p.N373S|CNTNAP2_ENST00000463592.2_3'UTR	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	1314					behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			ATCATGAACAACGACCCCAAC	0.542000										HNSCC(39;0.1)			9	64					0	0	0.000442599	0	0
MGAM	8972	broad.mit.edu	37	7	141795456	141795456	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:141795456C>T	ENST00000475668.2	+	64	7604	c.7550C>T	c.(7549-7551)aCc>aTc	p.T2517I	MGAM_ENST00000549489.2_Missense_Mutation_p.T1621I			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1621					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)	TATCTGTATACCTTGATGCAT	0.502000													21	142					0	0	0.00229938	0	0
NMS	129521	broad.mit.edu	37	2	101089982	101089982	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:101089982C>T	ENST00000376865.1	+	3	171	c.164C>T	c.(163-165)cCt>cTt	p.P55L		NM_001011717.1	NP_001011717.1	Q5H8A3	NMS_HUMAN	neuromedin S	55					neuropeptide signaling pathway|regulation of smooth muscle contraction	extracellular region				breast(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)	14						CAGTGGGCACCTCTTTCTCGC	0.338000													11	52					0	0	0.00244969	0	0
CHRM3	1131	broad.mit.edu	37	1	240071559	240071559	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:240071559G>A	ENST00000255380.4	+	5	1587	c.808G>A	c.(808-810)Gcc>Acc	p.A270T		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	270					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	TGGCCTGCAAGCCTCTGGGAC	0.473000													11	36					0	0	0.000673444	0	0
C1orf173	127254	broad.mit.edu	37	1	75038907	75038907	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:75038907C>T	ENST00000326665.5	-	14	2705	c.2487G>A	c.(2485-2487)agG>agA	p.R829R	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	829	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						GAGGGATCTCCCTTTTTTCTG	0.572000													8	28					0	0	0.000442599	0	0
ADCYAP1R1	117	broad.mit.edu	37	7	31124449	31124449	+	Splice_Site	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:31124449G>A	ENST00000304166.4	+	8	825	c.536_splice	c.e8+1	p.R179_splice	ADCYAP1R1_ENST00000409489.1_Splice_Site_p.R179_splice|ADCYAP1R1_ENST00000409363.1_Splice_Site_p.R158_splice|ADCYAP1R1_ENST00000396211.2_Splice_Site_p.R179_splice	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	179					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						TGTCGCTTCCGGTGAGACCCT	0.572000													8	55					0	0	0.00307968	0	0
OR2B2	81697	broad.mit.edu	37	6	27879307	27879307	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:27879307G>A	ENST00000303324.2	-	1	867	c.791C>T	c.(790-792)tCa>tTa	p.S264L		NM_033057.2	NP_149046.2	Q9GZK3	OR2B2_HUMAN	olfactory receptor, family 2, subfamily B, member 2	264					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						GGAGCTGGGTGAAGGTGGTTG	0.458000													11	68					0	0	0.000978159	0	0
CCDC40	55036	broad.mit.edu	37	17	78058726	78058726	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:78058726G>A	ENST00000397545.4	+	13	2201	c.2174G>A	c.(2173-2175)aGg>aAg	p.R725K	CCDC40_ENST00000374877.3_Missense_Mutation_p.R725K	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	725					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			CTGATCGAGAGGAAGCAAGGG	0.607000													12	21					0	0	0.00244969	0	0
COL6A3	1293	broad.mit.edu	37	2	238269788	238269788	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:238269788G>A	ENST00000295550.4	-	16	6638	c.6186C>T	c.(6184-6186)ggC>ggT	p.G2062G	COL6A3_ENST00000347401.3_Silent_p.G1861G|COL6A3_ENST00000346358.4_Silent_p.G1862G|COL6A3_ENST00000409809.1_Silent_p.G1856G|COL6A3_ENST00000353578.4_Silent_p.G1856G|COL6A3_ENST00000472056.1_Silent_p.G1455G	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2062	Collagen-like 1.|Triple-helical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CACCAGGATAGCCTCGGTAGC	0.463000													17	20					0	0	0.000958276	0	0
PDE1C	5137	broad.mit.edu	37	7	31855584	31855584	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:31855584C>T	ENST00000396184.3	-	16	1971	c.1767G>A	c.(1765-1767)ggG>ggA	p.G589G	PDE1C_ENST00000396182.2_Silent_p.G589G|PDE1C_ENST00000321453.7_Silent_p.G589G|PDE1C_ENST00000396193.1_Silent_p.G649G|PDE1C_ENST00000396191.1_Silent_p.G589G|PDE1C_ENST00000479980.1_5'UTR	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	589					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)			TGGAGTTTTTCCCACGAGGGT	0.458000													11	99					0	0	0.00316338	0	0
CBL	867	broad.mit.edu	37	11	119142544	119142544	+	Silent	SNP	T	T	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:119142544T>C	ENST00000264033.4	+	3	919	c.543T>C	c.(541-543)atT>atC	p.I181I		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	181	Cbl-PTB.|EF-hand-like.				epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		CATTTCGGATTACTAAAGCAG	0.403000			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies				46	167					0	0	0.00361006	0	0
ADCY5	111	broad.mit.edu	37	3	123071317	123071317	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:123071317G>A	ENST00000462833.1	-	2	2458	c.1246C>T	c.(1246-1248)Cag>Tag	p.Q416*	ADCY5_ENST00000309879.5_Nonsense_Mutation_p.Q66*|ADCY5_ENST00000470367.1_5'UTR|ADCY5_ENST00000491190.1_Nonsense_Mutation_p.Q49*	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	416					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		AGCCGCGCCTGGATGCACTCT	0.612000													6	26					0	0	0.00198382	0	0
BRD7	29117	broad.mit.edu	37	16	50383950	50383950	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:50383950G>A	ENST00000394688.3	-	5	734	c.575C>T	c.(574-576)tCc>tTc	p.S192F	BRD7_ENST00000401491.3_5'UTR|BRD7_ENST00000394689.2_Missense_Mutation_p.S192F			Q9NPI1	BRD7_HUMAN	bromodomain containing 7	192	Bromo.				cell cycle|negative regulation of cell proliferation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of histone acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleus	histone acetyl-lysine binding|p53 binding|transcription coactivator activity|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22		all_cancers(37;0.0127)				TTCTTCTATGGACTGATAGTC	0.343000													18	57					0	0	0.00074312	0	0
PLA2G4A	5321	broad.mit.edu	37	1	186934669	186934669	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:186934669C>T	ENST00000367466.3	+	15	1860	c.1708C>T	c.(1708-1710)Ctc>Ttc	p.L570F	PLA2G4A_ENST00000442353.2_Missense_Mutation_p.L510F	NM_024420.2	NP_077734.1	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	570	PLA2c.				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)	AGGGGTTGATCTCATAATCTC	0.438000													6	76					0	0	0.00198382	0	0
SLCO1B1	10599	broad.mit.edu	37	12	21331521	21331521	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:21331521G>A	ENST00000256958.2	+	6	589	c.493G>A	c.(493-495)Gaa>Aaa	p.E165K		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	165					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	TTGTTTAAAGGAATCTGGGTC	0.323000													11	51					0	0	0.00244969	0	0
ANK3	288	broad.mit.edu	37	10	61802491	61802491	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:61802491C>T	ENST00000280772.1	-	43	13283	c.13092G>A	c.(13090-13092)acG>acA	p.T4364T	ANK3_ENST00000503366.1_Silent_p.T1855T|ANK3_ENST00000355288.2_Silent_p.T988T|ANK3_ENST00000373827.2_Silent_p.T1848T	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	4364					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						TTTCTTTCTTCGTTTTCACCT	0.398000													20	53					0	0	0.00229938	0	0
HYAL4	23553	broad.mit.edu	37	7	123517154	123517154	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:123517154C>T	ENST00000223026.4	+	5	2029	c.1391C>T	c.(1390-1392)tCa>tTa	p.S464L	HYAL4_ENST00000476325.1_Missense_Mutation_p.S464L	NM_012269.2	NP_036401.2	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	464					fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						TCTCCTGGTTCACTAATGACA	0.423000													13	93					0	0	0.00244969	0	0
FAT1	2195	broad.mit.edu	37	4	187628754	187628754	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:187628754T>A	ENST00000441802.2	-	2	2437	c.2228A>T	c.(2227-2229)gAc>gTc	p.D743V		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	743	Cadherin 6.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						AGTGTCAAGGTCAGTGGAGTT	0.423000										HNSCC(5;0.00058)			11	27					0	0	0.000673444	0	0
ASB4	51666	broad.mit.edu	37	7	95157196	95157196	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:95157196C>T	ENST00000325885.5	+	3	630	c.559C>T	c.(559-561)Ctt>Ttt	p.L187F	ASB4_ENST00000428113.1_Missense_Mutation_p.L187F	NM_016116.2	NP_057200.1	Q9Y574	ASB4_HUMAN	ankyrin repeat and SOCS box containing 4	187					intracellular signal transduction					central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			CCACTTCGGCCTTTCGGAGCT	0.572000											OREG0018172	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	59					0	0	0.00307968	0	0
STAT4	6775	broad.mit.edu	37	2	191919251	191919251	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:191919251C>T	ENST00000392320.2	-	14	1530	c.1216G>A	c.(1216-1218)Gaa>Aaa	p.E406K	STAT4_ENST00000358470.4_Missense_Mutation_p.E406K	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	406					JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			GACTTCATTTCCTTTGGTTGC	0.338000													47	181					0	0	0.00361006	0	0
C1orf186	440712	broad.mit.edu	37	1	206239573	206239573	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:206239573C>T	ENST00000331555.5	-	6	963	c.325G>A	c.(325-327)Gag>Aag	p.E109K		NM_001007544.1	NP_001007545.1	Q6ZWK4	CA186_HUMAN	chromosome 1 open reading frame 186	109						integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9			BRCA - Breast invasive adenocarcinoma(75;0.0754)			TCCACATCCTCTGTGGCCTTA	0.453000													4	22					0	0	0.000602214	0	0
SLC14A2	8170	broad.mit.edu	37	18	43204771	43204771	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:43204771G>A	ENST00000255226.6	+	2	958	c.142G>A	c.(142-144)Gaa>Aaa	p.E48K	SLC14A2_ENST00000586448.1_Missense_Mutation_p.E48K	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	48						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GGAAATGCCTGAAGAAAAGGT	0.562000													8	39					0	0	0.000274275	0	0
FBN3	84467	broad.mit.edu	37	19	8175831	8175831	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:8175831C>T	ENST00000600128.1	-	34	4645	c.4231G>A	c.(4231-4233)Ggg>Agg	p.G1411R	FBN3_ENST00000601739.1_Missense_Mutation_p.G1411R|FBN3_ENST00000270509.2_Missense_Mutation_p.G1411R			Q75N90	FBN3_HUMAN	fibrillin 3	1411	EGF-like 22; 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						CAGAGGTTCCCTTGCGCACAC	0.637000													12	34					0	0	0.000978159	0	0
PTPRR	5801	broad.mit.edu	37	12	71286612	71286612	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:71286612G>A	ENST00000283228.2	-	2	656	c.204C>T	c.(202-204)tcC>tcT	p.S68S		NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	68					in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		CTTCGGAAGAGGAATGGTAGC	0.458000													12	58					0	0	0.00185496	0	0
ACAN	176	broad.mit.edu	37	15	89398695	89398695	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:89398695G>A	ENST00000439576.2	+	12	3253	c.2879G>A	c.(2878-2880)gGa>gAa	p.G960E	ACAN_ENST00000559004.1_Missense_Mutation_p.G960E|ACAN_ENST00000352105.7_Missense_Mutation_p.G960E|ACAN_ENST00000561243.1_Missense_Mutation_p.G960E	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	960					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CTTCCTTCTGGAGAAGTTCTA	0.567000													11	24					0	0	0.000978159	0	0
FGFR2	2263	broad.mit.edu	37	10	123310941	123310941	+	Missense_Mutation	SNP	C	C	T	rs67257519		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:123310941C>T	ENST00000358487.5	-	5	759	c.487G>A	c.(487-489)Gaa>Aaa	p.E163K	FGFR2_ENST00000369056.1_Missense_Mutation_p.E163K|FGFR2_ENST00000346997.2_Missense_Mutation_p.E163K|FGFR2_ENST00000351936.6_Missense_Mutation_p.E163K|FGFR2_ENST00000357555.5_Missense_Mutation_p.E74K|FGFR2_ENST00000359354.2_Missense_Mutation_p.E163K|FGFR2_ENST00000369060.4_Missense_Mutation_p.E163K|FGFR2_ENST00000356226.4_Missense_Mutation_p.E48K|FGFR2_ENST00000369061.4_Missense_Mutation_p.E163K|FGFR2_ENST00000490349.1_5'UTR|FGFR2_ENST00000360144.3_Missense_Mutation_p.E74K|FGFR2_ENST00000457416.2_Missense_Mutation_p.E163K|FGFR2_ENST00000369059.1_Missense_Mutation_p.E48K	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	163	Heparin-binding.|Ig-like C2-type 2.				angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	AGCCGCTTTTCCATCTTTTCT	0.512000		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome				16	36					0	0	0.000566183	0	0
ATP8B1	5205	broad.mit.edu	37	18	55352331	55352331	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:55352331G>A	ENST00000536015.1	-	14	1565	c.1446C>T	c.(1444-1446)gcC>gcT	p.A482A	RP11-35G9.3_ENST00000599199.1_RNA|RP11-35G9.5_ENST00000588925.1_RNA|ATP8B1_ENST00000283684.4_Silent_p.A482A	NM_005603.4	NP_005594.1	O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	482					ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				TGTGTTGAGAGGCATCCCGAT	0.478000													12	60					0	0	0.00316338	0	0
PSG1	5669	broad.mit.edu	37	19	43383729	43383729	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:43383729C>T	ENST00000244296.2	-	1	142	c.5G>A	c.(4-6)gGa>gAa	p.G2E	PSG1_ENST00000601073.1_5'UTR|PSG1_ENST00000595356.1_Missense_Mutation_p.G2E|PSG1_ENST00000595124.1_Missense_Mutation_p.G2E|PSG1_ENST00000403380.3_Missense_Mutation_p.G2E|PSG1_ENST00000436291.2_Missense_Mutation_p.G2E|PSG1_ENST00000312439.6_Missense_Mutation_p.G2E	NM_006905.2	NP_008836.2			pregnancy specific beta-1-glycoprotein 1									p.G2V(2)		breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				TGAGAGGGTTCCCATGGTCTC	0.567000													22	29					0	0	0.000720815	0	0
ELTD1	64123	broad.mit.edu	37	1	79402088	79402088	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:79402088C>T	ENST00000370742.3	-	7	832	c.769G>A	c.(769-771)Gtt>Att	p.V257I		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	257					neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		AAAAAGAAAACTTTGAGAGCT	0.259000													13	54					0	0	0.00136819	0	0
UBE2D3	7323	broad.mit.edu	37	4	103723746	103723746	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:103723746G>C	ENST00000453744.2	-	5	683	c.170C>G	c.(169-171)cCt>cGt	p.P57R	UBE2D3_ENST00000343106.5_Missense_Mutation_p.P57R|UBE2D3_ENST00000338145.3_Missense_Mutation_p.P57R|UBE2D3_ENST00000502404.1_Missense_Mutation_p.P28R|UBE2D3_ENST00000350435.7_Missense_Mutation_p.P51R|UBE2D3_ENST00000505207.1_Missense_Mutation_p.P28R|UBE2D3_ENST00000321805.7_Missense_Mutation_p.P57R|UBE2D3_ENST00000507845.1_Missense_Mutation_p.P28R|UBE2D3_ENST00000394804.2_Missense_Mutation_p.P57R|UBE2D3_ENST00000357194.6_Missense_Mutation_p.P59R|UBE2D3_ENST00000394801.4_Missense_Mutation_p.P57R|UBE2D3_ENST00000349311.8_Missense_Mutation_p.P57R|UBE2D3_ENST00000394803.5_Missense_Mutation_p.P57R|UBE2D3_ENST00000504211.1_Missense_Mutation_p.P28R	NM_181891.1	NP_871620.1	P61077	UB2D3_HUMAN	ubiquitin-conjugating enzyme E2D 3	57					apoptosis|BMP signaling pathway|DNA repair|negative regulation of type I interferon production|proteasomal ubiquitin-dependent protein catabolic process|protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein monoubiquitination|transforming growth factor beta receptor signaling pathway	endosome membrane|plasma membrane	ATP binding|protein binding|ubiquitin-protein ligase activity			kidney(1)|lung(3)|skin(1)	5		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.13e-08)		GTAGTCTGTAGGAAAATGAAT	0.318000													12	57					0	0	0.000566183	0	0
FCGR3B	2215	broad.mit.edu	37	1	161594380	161594380	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:161594380G>A	ENST00000294800.3	-	5	900	c.627C>T	c.(625-627)gtC>gtT	p.V209V	FCGR3B_ENST00000531221.1_Silent_p.V245V|FCGR2B_ENST00000403078.3_Intron|FCGR2B_ENST00000367960.5_Intron|FCGR2B_ENST00000367962.4_Intron|FCGR3B_ENST00000367964.2_Silent_p.V209V|FCGR2B_ENST00000428605.2_Intron|FCGR3A_ENST00000540048.1_Intron	NM_001244753.1|NM_001271035.1	NP_001231682.1|NP_001257964.1	O75015	FCG3B_HUMAN	Fc fragment of IgG, low affinity IIIb, receptor (CD16b)	209					immune response	anchored to membrane|extracellular region|plasma membrane	IgG binding|receptor activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	18	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AGCAGAAAGAGACTTGGTACC	0.433000													26	37					0	0	0.00327116	0	0
TEK	7010	broad.mit.edu	37	9	27169586	27169586	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:27169586G>A	ENST00000380036.4	+	4	1029	c.587G>A	c.(586-588)gGa>gAa	p.G196E	TEK_ENST00000406359.4_Missense_Mutation_p.G196E|TEK_ENST00000519097.1_Missense_Mutation_p.G92E	NM_000459.3	NP_000450.2	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	196					angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		TATATAGGAGGAAACCTCTTC	0.502000													8	33					0	0	0.000274275	0	0
MAK	4117	broad.mit.edu	37	6	10818140	10818140	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:10818140T>C	ENST00000313243.2	-	4	603	c.221A>G	c.(220-222)cAt>cGt	p.H74R	SYCP2L_ENST00000543878.1_Intron|MAK_ENST00000474039.1_Missense_Mutation_p.H74R|MAK_ENST00000538030.1_Missense_Mutation_p.H74R|RP11-637O19.3_ENST00000480294.1_Intron|MAK_ENST00000536370.1_Missense_Mutation_p.H74R|MAK_ENST00000354489.2_Missense_Mutation_p.H74R			P20794	MAK_HUMAN	male germ cell-associated kinase	74	Protein kinase.				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)				AAAATAAAGATGGTCATTTTC	0.259000													10	70					0	0	0.000442599	0	0
DNAH7	56171	broad.mit.edu	37	2	196720612	196720612	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:196720612C>T	ENST00000312428.6	-	45	8618	c.8518G>A	c.(8518-8520)Gaa>Aaa	p.E2840K		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2840	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TCCTGAACTTCCTTAAGGGCT	0.433000													26	176					0	0	0.001512	0	0
HERC2	8924	broad.mit.edu	37	15	28358367	28358367	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:28358367G>A	ENST00000261609.7	-	92	14190	c.14082C>T	c.(14080-14082)atC>atT	p.I4694I		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	4694	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)		CGGAAGGCTCGATGCCTTTAT	0.602000													5	24					0	0	0.000602214	0	0
ZNF573	126231	broad.mit.edu	37	19	38229581	38229581	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:38229581G>A	ENST00000339503.4	-	8	2137	c.1636C>T	c.(1636-1638)Cat>Tat	p.H546Y	ZNF573_ENST00000590414.2_Missense_Mutation_p.H604Y|ZNF573_ENST00000392138.1_Missense_Mutation_p.H517Y|ZNF573_ENST00000536220.1_Missense_Mutation_p.H516Y|ZNF573_ENST00000357309.3_Missense_Mutation_p.H516Y	NM_152360.3	NP_689573.3	Q86YE8	ZN573_HUMAN	zinc finger protein 573	584					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H546Y(1)		NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			CCACCAGTATGAATTTTCTGA	0.388000													14	60					0	0	0.00244969	0	0
RGPD4	285190	broad.mit.edu	37	2	108477238	108477238	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:108477238C>T	ENST00000408999.3	+	13	1852	c.1775C>T	c.(1774-1776)tCt>tTt	p.S592F	RGPD4_ENST00000354986.4_Missense_Mutation_p.S592F	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	592					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						GGTCTTAATTCTTTTTATGAT	0.323000													34	140					0	0	0.00148497	0	0
SPTA1	6708	broad.mit.edu	37	1	158609424	158609424	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:158609424C>T	ENST00000368148.3	-	35	5108	c.4928G>A	c.(4927-4929)gGa>gAa	p.G1643E	SPTA1_ENST00000368147.3_Missense_Mutation_p.G1643E	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1643					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)					GAGTAGGTTTCCTGCTGAAGC	0.468000													9	63					0	0	0.000442599	0	0
COL11A1	1301	broad.mit.edu	37	1	103488487	103488487	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:103488487C>T	ENST00000358392.2	-	8	1409	c.1092G>A	c.(1090-1092)agG>agA	p.R364R	COL11A1_ENST00000370096.3_Silent_p.R352R|COL11A1_ENST00000512756.1_Intron|COL11A1_ENST00000353414.4_Silent_p.R313R	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	352	Nonhelical 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)		CAGAATTTTTCCTCTGGGAAT	0.338000													15	40					0	0	0.00316338	0	0
PRDM9	56979	broad.mit.edu	37	5	23526565	23526565	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:23526565C>T	ENST00000296682.3	+	11	1550	c.1368C>T	c.(1366-1368)atC>atT	p.I456I		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	456					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GTCAAGAGATCAAAGAAAGGT	0.483000										HNSCC(3;0.000094)			12	10					0	0	0.000978159	0	0
GRB7	2886	broad.mit.edu	37	17	37903012	37903012	+	Silent	SNP	G	G	A	rs145504893		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:37903012G>A	ENST00000309156.4	+	15	1718	c.1461G>A	c.(1459-1461)gaG>gaA	p.E487E	GRB7_ENST00000309185.3_3'UTR|GRB7_ENST00000394211.3_Silent_p.E487E|GRB7_ENST00000394204.1_3'UTR|GRB7_ENST00000394209.2_Silent_p.E487E|GRB7_ENST00000445327.2_Silent_p.E510E	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	487	SH2.				blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity	p.E487E(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			AGAGCGAGGAGGAGGGCCGCC	0.622000													11	52					0	0	0.000673444	0	0
PDE9A	5152	broad.mit.edu	37	21	44117553	44117553	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr21:44117553C>T	ENST00000380328.2	+	4	283	c.247C>T	c.(247-249)Cgt>Tgt	p.R83C	PDE9A_ENST00000349112.3_Intron|PDE9A_ENST00000539837.1_Intron|PDE9A_ENST00000335512.4_Intron|PDE9A_ENST00000291539.6_Intron|PDE9A_ENST00000398225.3_Intron|PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000398236.3_Intron|PDE9A_ENST00000398224.3_Intron|PDE9A_ENST00000398229.3_Intron|PDE9A_ENST00000398232.3_Intron|PDE9A_ENST00000398227.3_Intron|PDE9A_ENST00000335440.6_Intron|PDE9A_ENST00000398234.3_Intron|PDE9A_ENST00000328862.6_Intron	NM_001001570.1	NP_001001570.1	O76083	PDE9A_HUMAN	phosphodiesterase 9A	0					platelet activation|signal transduction	cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						TACATCACTCCGTAACTTGTT	0.438000													18	49					0	0	0.00121646	0	0
CYLC1	1538	broad.mit.edu	37	X	83128246	83128246	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:83128246C>T	ENST00000329312.4	+	4	567	c.530C>T	c.(529-531)tCc>tTc	p.S177F		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	177					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						AAGTCAAAATCCAGTTCAGAA	0.313000													4	19					0	0	0.00024832	0	0
AVPR1B	553	broad.mit.edu	37	1	206224445	206224445	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:206224445A>T	ENST00000367126.4	+	1	470	c.5A>T	c.(4-6)gAt>gTt	p.D2V		NM_000707.3	NP_000698.1	P47901	V1BR_HUMAN	arginine vasopressin receptor 1B	2					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	TTGCTCATGGATTCTGGGCCT	0.607000													42	114					0	0	0.00361006	0	0
NDOR1	27158	broad.mit.edu	37	9	140109372	140109372	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:140109372C>T	ENST00000371521.4	+	8	1050	c.967C>T	c.(967-969)Cat>Tat	p.H323Y	NDOR1_ENST00000344894.5_Missense_Mutation_p.H323Y|NDOR1_ENST00000458322.2_Missense_Mutation_p.H323Y|NDOR1_ENST00000427047.2_Missense_Mutation_p.H289Y	NM_001144026.1	NP_001137498.1	Q9UHB4	NDOR1_HUMAN	NADPH dependent diflavin oxidoreductase 1	323	FAD-binding FR-type.				cell death	cytosol|intermediate filament cytoskeleton|nucleus|perinuclear region of cytoplasm	flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding|oxidoreductase activity|protein binding			breast(1)|endometrium(5)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		TCTATCCCTCCATGAGCTGGA	0.632000													9	14					0	0	0.000442599	0	0
LRRC49	54839	broad.mit.edu	37	15	71305224	71305224	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:71305224C>T	ENST00000260382.5	+	14	1935	c.1675C>T	c.(1675-1677)Cgt>Tgt	p.R559C	LRRC49_ENST00000560691.1_Missense_Mutation_p.R265C|LRRC49_ENST00000560369.1_Missense_Mutation_p.R564C|LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000443425.2_Missense_Mutation_p.R515C|LRRC49_ENST00000544974.2_Missense_Mutation_p.R549C|LRRC49_ENST00000560158.2_Missense_Mutation_p.R247C	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	559						cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						ACCCCAGTATCGTCTGATTTC	0.363000													9	60					0	0	0.000442599	0	0
TRIM15	89870	broad.mit.edu	37	6	30134964	30134964	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:30134964G>A	ENST00000376694.4	+	2	862	c.393G>A	c.(391-393)agG>agA	p.R131R	TRIM15_ENST00000376688.1_Intron	NM_033229.2	NP_150232.2	Q9C019	TRI15_HUMAN	tripartite motif containing 15	131					mesodermal cell fate determination	intracellular	zinc ion binding			large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						ATCGTCTCAGGAGTCGACTGG	0.468000													26	112					0	0	0.00283554	0	0
KIAA1024	23251	broad.mit.edu	37	15	79749389	79749389	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:79749389C>T	ENST00000305428.3	+	2	975	c.900C>T	c.(898-900)ttC>ttT	p.F300F		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	300						integral to membrane				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						CACCCTTCTTCAACCACAGCT	0.522000													19	77					0	0	0.00229938	0	0
ASCL3	56676	broad.mit.edu	37	11	8959625	8959625	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:8959625G>A	ENST00000325884.1	-	2	143	c.84C>T	c.(82-84)tcC>tcT	p.S28S	ASCL3_ENST00000531618.1_Silent_p.S28S	NM_020646.1	NP_065697.1	Q9NQ33	ASCL3_HUMAN	achaete-scute family bHLH transcription factor 3	27					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleolus	DNA binding			breast(1)|large_intestine(2)|lung(5)|stomach(1)	9				Epithelial(150;1.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0228)		CCAGATAGAAGGACCTGGTCA	0.547000													43	69					0	0	0.00361006	0	0
SLC22A2	6582	broad.mit.edu	37	6	160671584	160671584	+	Silent	SNP	G	G	A	rs8177510		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:160671584G>A	ENST00000366952.1	-	5	2087	c.606C>T	c.(604-606)atC>atT	p.I202I	SLC22A2_ENST00000366953.3_Silent_p.I223I|SLC22A2_ENST00000491092.1_5'UTR			O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	223					body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		TCTTACTCAGGATGTAGCCTA	0.483000													15	40					0	0	0.00121646	0	0
BAZ1B	9031	broad.mit.edu	37	7	72907212	72907212	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:72907212G>A	ENST00000339594.4	-	5	949	c.611C>T	c.(610-612)tCa>tTa	p.S204L	BAZ1B_ENST00000404251.1_Missense_Mutation_p.S204L	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	204	Mediates the tyrosine-protein kinase activity.				ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				TTTTTTTAATGAAGTAGGAAG	0.328000													19	140					0	0	0.00332997	0	0
GABRE	2564	broad.mit.edu	37	X	151131032	151131032	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:151131032C>T	ENST00000370325.1	-	4	479	c.426G>A	c.(424-426)ctG>ctA	p.L142L	GABRE_ENST00000370328.3_Silent_p.L142L|GABRE_ENST00000393914.3_5'UTR			P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	142					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					CATTGCCATTCAGAACAAGAG	0.502000													14	45					0	0	0.00400662	0	0
SIGLEC9	27180	broad.mit.edu	37	19	51631298	51631298	+	Splice_Site	SNP	T	T	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:51631298T>C	ENST00000440804.3	+	5	1173		c.e5+2		SIGLEC9_ENST00000250360.3_Splice_Site	NM_001198558.1	NP_001185487.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9						cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		CTTCGTTGTGTAAGCATGGAC	0.612000													17	67					0	0	0.00074312	0	0
ASPM	259266	broad.mit.edu	37	1	197097732	197097732	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:197097732G>A	ENST00000367409.4	-	10	3080	c.2824C>T	c.(2824-2826)Cgt>Tgt	p.R942C	ASPM_ENST00000367408.1_Missense_Mutation_p.R192C|ASPM_ENST00000294732.7_Missense_Mutation_p.R942C	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	942	CH 1.				mitosis	cytoplasm|nucleus	calmodulin binding	p.R942C(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CCAAGGTGACGGGAAAGGTCA	0.378000													8	34					0	0	0.000274275	0	0
LRRC16B	90668	broad.mit.edu	37	14	24523473	24523473	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:24523473T>C	ENST00000342740.5	+	4	363	c.209T>C	c.(208-210)cTg>cCg	p.L70P	LRRC16B_ENST00000334420.7_5'UTR	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	70										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)		TTCAATGTCCTGGAGATCCGT	0.602000													10	31					0	0	0.000673444	0	0
OR52J3	119679	broad.mit.edu	37	11	5068516	5068516	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:5068516T>A	ENST00000380370.1	+	1	761	c.761T>A	c.(760-762)aTc>aAc	p.I254N		NM_001001916.2	NP_001001916.2	Q8NH60	O52J3_HUMAN	olfactory receptor, family 52, subfamily J, member 3	254					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTTTTCTATATCCCTTCAGTC	0.448000													9	37					0	0	0.000978159	0	0
C11orf24	53838	broad.mit.edu	37	11	68029160	68029160	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:68029160G>A	ENST00000304271.6	-	4	1705	c.1303C>T	c.(1303-1305)Cag>Tag	p.Q435*	C11orf24_ENST00000533310.1_Nonsense_Mutation_p.Q100*	NM_022338.3	NP_071733.1	Q96F05	CK024_HUMAN	chromosome 11 open reading frame 24	435						integral to membrane				endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)	13						TAGTCCACCTGGGTGTAGTCC	0.557000													9	38					0	0	0.000673444	0	0
CDC73	79577	broad.mit.edu	37	1	193119437	193119437	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:193119437C>T	ENST00000367435.3	+	9	1016	c.832C>T	c.(832-834)Ccc>Tcc	p.P278S		NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN	cell division cycle 73	278					cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						TTTACAGGATCCCACTTTGCG	0.383000													9	62					0	0	0.000442599	0	0
ZNF678	339500	broad.mit.edu	37	1	227843398	227843398	+	Missense_Mutation	SNP	C	C	T	rs116247928	by1000genomes	TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:227843398C>T	ENST00000343776.4	+	4	1792	c.1447C>T	c.(1447-1449)Cat>Tat	p.H483Y	ZNF678_ENST00000498759.1_Intron|ZNF678_ENST00000397097.3_Missense_Mutation_p.H538Y			F5GXA7	F5GXA7_HUMAN	zinc finger protein 678	538					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1)	24		Prostate(94;0.0885)				TAAAAGAATTCATACTGGAGA	0.358000													6	26					0	0	0.00116845	0	0
FBXW11	23291	broad.mit.edu	37	5	171327068	171327068	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:171327068G>A	ENST00000296933.6	-	4	741	c.371C>T	c.(370-372)tCg>tTg	p.S124L	FBXW11_ENST00000522891.1_5'UTR|FBXW11_ENST00000393802.2_Missense_Mutation_p.S103L|FBXW11_ENST00000265094.5_Missense_Mutation_p.S137L|FBXW11_ENST00000425623.2_Missense_Mutation_p.S105L	NM_033644.2|NM_033645.2	NP_387448.2|NP_387449.2	Q9UKB1	FBW1B_HUMAN	F-box and WD repeat domain containing 11	137					cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of circadian rhythm|positive regulation of proteolysis|positive regulation of transcription, DNA-dependent|protein dephosphorylation|protein destabilization|protein polyubiquitination|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	centrosome|cytosol|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	21	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			ATCCAGGTACGAAAGAATGTT	0.448000													23	68					0	0	0.00332997	0	0
TEX15	56154	broad.mit.edu	37	8	30703216	30703216	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:30703216C>T	ENST00000256246.2	-	1	3392	c.3318G>A	c.(3316-3318)agG>agA	p.R1106R		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1106	Ser-rich.									NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		CCATACTTTTCCTAGAAAGGC	0.388000													14	63					0	0	0.00185496	0	0
CEP55	55165	broad.mit.edu	37	10	95276986	95276986	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:95276986C>T	ENST00000371485.3	+	6	1278	c.974C>T	c.(973-975)tCc>tTc	p.S325F	CEP55_ENST00000496302.1_3'UTR	NM_001127182.1|NM_018131.4	NP_001120654.1|NP_060601.3	Q53EZ4	CEP55_HUMAN	centrosomal protein 55kDa	325					cell division|mitosis	centriole|cleavage furrow|midbody				kidney(1)|large_intestine(5)|lung(6)|stomach(1)	13		Colorectal(252;0.207)				AAGAAGAGATCCGAAGAGCTC	0.393000													5	61					0	0	0.00116845	0	0
OR10H3	26532	broad.mit.edu	37	19	15852289	15852289	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:15852289C>T	ENST00000305892.1	+	1	87	c.87C>T	c.(85-87)ttC>ttT	p.F29F		NM_013938.1	NP_039226.1	O60404	O10H3_HUMAN	olfactory receptor, family 10, subfamily H, member 3	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						CTGTCTTGTTCCTGCTGTACC	0.493000													19	103					0	0	0.00188189	0	0
CR1	1378	broad.mit.edu	37	1	207785290	207785290	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:207785290C>T	ENST00000367049.4	+	39	6479	c.6479C>T	c.(6478-6480)tCc>tTc	p.S2160F	CR1_ENST00000367051.1_Missense_Mutation_p.S1710F|CR1_ENST00000367053.1_Missense_Mutation_p.S1710F|CR1_ENST00000400960.2_Missense_Mutation_p.S1710F|CR1_ENST00000367052.1_Missense_Mutation_p.S1710F	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1710					complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CTAGTGAAATCCTGTGATGAC	0.478000													31	130					0	0	0.0024448	0	0
CSNK1A1L	122011	broad.mit.edu	37	13	37678874	37678874	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr13:37678874G>A	ENST00000379800.3	-	1	929	c.520C>T	c.(520-522)Ccg>Tcg	p.P174S		NM_145203.5	NP_660204.2	Q8N752	KC1AL_HUMAN	casein kinase 1, alpha 1-like	174	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		TCTCTGTACGGTATGTGTTGC	0.453000													13	42					0	0	0.00136819	0	0
KERA	11081	broad.mit.edu	37	12	91449250	91449250	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:91449250G>A	ENST00000266719.3	-	2	1056	c.809C>T	c.(808-810)tCg>tTg	p.S270L		NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan	270					response to stimulus|visual perception	proteinaceous extracellular matrix				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						TTGATTGTGCGACAGTTGAAG	0.408000													10	17					0	0	0.000978159	0	0
SCCPDH	51097	broad.mit.edu	37	1	246930509	246930509	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:246930509C>T	ENST00000366510.3	+	12	1573	c.1197C>T	c.(1195-1197)ttC>ttT	p.F399F		NM_016002.2	NP_057086.2	Q8NBX0	SCPDH_HUMAN	saccharopine dehydrogenase (putative)	399						midbody	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|ovary(1)	17	all_cancers(71;6.8e-05)|all_epithelial(71;7.93e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0545)|Lung NSC(105;0.0618)	all_cancers(173;0.0343)	OV - Ovarian serous cystadenocarcinoma(106;0.00323)	GBM - Glioblastoma multiforme(49;0.0896)		GCGGGGTCTTCACACCTGGAG	0.428000													9	21					0	0	0.000442599	0	0
ERC2	26059	broad.mit.edu	37	3	56330352	56330352	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:56330352C>T	ENST00000288221.6	-	3	1024	c.769G>A	c.(769-771)Gag>Aag	p.E257K		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	257						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TCGGTCAGCTCGATGGTGAAG	0.557000													20	91					0	0	0.00278032	0	0
NPSR1	387129	broad.mit.edu	37	7	34867176	34867176	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:34867176G>A	ENST00000360581.1	+	5	770	c.642G>A	c.(640-642)gtG>gtA	p.V214V	NPSR1_ENST00000381539.3_Silent_p.V214V|NPSR1_ENST00000381542.1_Silent_p.V148V|NPSR1_ENST00000359791.1_Silent_p.V214V|NPSR1_ENST00000531252.1_Silent_p.V203V	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	214						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	TGACCATCGTGGCCTTCCTGG	0.582000													10	70					0	0	0.000978159	0	0
SLC22A6	9356	broad.mit.edu	37	11	62752120	62752120	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:62752120G>A	ENST00000377871.3	-	1	309	c.43C>T	c.(43-45)Cgc>Tgc	p.R15C	SLC22A6_ENST00000458333.2_Missense_Mutation_p.R15C|SLC22A6_ENST00000421062.2_Missense_Mutation_p.R15C|SLC22A6_ENST00000360421.4_Missense_Mutation_p.R15C	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	15					alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						TGCTGGAAGCGGCCGACACCC	0.637000													6	19					0	0	0.00307968	0	0
KIF3B	9371	broad.mit.edu	37	20	30898237	30898237	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:30898237C>T	ENST00000375712.3	+	2	824	c.657C>T	c.(655-657)ttC>ttT	p.F219F		NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	219	Kinesin-motor.				anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			ATGCAATTTTCGTTATCACTA	0.498000													6	29					0	0	0.00116845	0	0
ABRA	137735	broad.mit.edu	37	8	107782336	107782336	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:107782336C>T	ENST00000311955.3	-	1	137	c.83G>A	c.(82-84)aGc>aAc	p.S28N		NM_139166.4	NP_631905.1	Q8N0Z2	ABRA_HUMAN	actin-binding Rho activating protein	28					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)			TCGGGCCAAGCTGATGACCAG	0.647000													12	52					0	0	0.00136819	0	0
ABTB1	80325	broad.mit.edu	37	3	127396377	127396377	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:127396377G>A	ENST00000468137.1	+	8	1022	c.406G>A	c.(406-408)Gtg>Atg	p.V136M	ABTB1_ENST00000232744.8_Missense_Mutation_p.V278M|ABTB1_ENST00000453791.2_Missense_Mutation_p.V136M|ABTB1_ENST00000393363.3_Missense_Mutation_p.V136M			Q969K4	ABTB1_HUMAN	ankyrin repeat and BTB (POZ) domain containing 1	278	BTB 1.					cytoplasm|nucleolus|plasma membrane	translation elongation factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10						CTGCTTCCGAGTGGCTGGCTG	0.632000													12	47					0	0	0.00316338	0	0
C2orf78	388960	broad.mit.edu	37	2	74041042	74041042	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:74041042C>T	ENST00000409561.1	+	2	657	c.536C>T	c.(535-537)cCa>cTa	p.P179L		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	179										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						CCTCTGTATCCATCACTATCT	0.453000													8	12					0	0	0.00307968	0	0
NEUROD4	58158	broad.mit.edu	37	12	55420921	55420921	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:55420921G>A	ENST00000242994.3	+	2	1076	c.698G>A	c.(697-699)gGa>gAa	p.G233E		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	233					amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						AAGAGTTTGGGAGAATCGTCC	0.517000													4	18					0	0	0.000602214	0	0
LRFN2	57497	broad.mit.edu	37	6	40400048	40400048	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:40400048C>T	ENST00000338305.6	-	2	1347	c.805G>A	c.(805-807)Ggg>Agg	p.G269R		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	269	LRRCT.					cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					TTGAGGCCCCCTGGGGAGCCA	0.582000													7	33					0	0	0.00198382	0	0
ASS1	445	broad.mit.edu	37	9	133370261	133370261	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:133370261G>A	ENST00000372394.1	+	14	1459	c.978G>A	c.(976-978)tgG>tgA	p.W326*	ASS1_ENST00000352480.5_Nonsense_Mutation_p.W326*|ASS1_ENST00000372393.3_Nonsense_Mutation_p.W326*			P00966	ASSY_HUMAN	argininosuccinate synthase 1	326				FWH -> LRP (in Ref. 1; CAA25771 and 2; AAA51783).	arginine biosynthetic process|urea cycle	cytosol	argininosuccinate synthase activity|ATP binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	TAGGTTTCTGGCACAGCCCTG	0.597000													4	18					0	0	0.000602214	0	0
MYF5	4617	broad.mit.edu	37	12	81112169	81112169	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:81112169G>A	ENST00000228644.3	+	2	686	c.534G>A	c.(532-534)aaG>aaA	p.K178K		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	178					muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						GGTCCAGAAAGAGCAGTACTT	0.398000													24	102					0	0	0.00178596	0	0
ADAMTS19	171019	broad.mit.edu	37	5	128863523	128863523	+	Splice_Site	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:128863523C>T	ENST00000274487.4	+	5	1296	c.1152_splice	c.e5+1	p.P384_splice	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	384	Peptidase M12B.				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)		CATGAAACTCCAGTAAGAAAG	0.318000													8	56					0	0	0.000442599	0	0
VAC14	55697	broad.mit.edu	37	16	70816996	70816996	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:70816996G>A	ENST00000261776.5	-	7	1011	c.751C>T	c.(751-753)Ccc>Tcc	p.P251S		NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	251					interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity			breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				ACACTGGAGGGGTTCTTCTTA	0.517000													23	97					0	0	0.00332997	0	0
FNDC4	64838	broad.mit.edu	37	2	27715584	27715584	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:27715584C>T	ENST00000264703.3	-	6	1009	c.618G>A	c.(616-618)aaG>aaA	p.K206K		NM_022823.2	NP_073734.1	Q9H6D8	FNDC4_HUMAN	fibronectin type III domain containing 4	206						integral to membrane				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|prostate(1)|skin(1)	9	Acute lymphoblastic leukemia(172;0.155)					GCCCCTTTCCCTTCTCCTTGG	0.547000													23	48					0	0	0.000720815	0	0
ZNF318	24149	broad.mit.edu	37	6	43305007	43305007	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:43305007G>A	ENST00000361428.2	-	10	6806	c.6729C>T	c.(6727-6729)tcC>tcT	p.S2243S	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	2243					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CCCTTGGAGGGGACCTTGACA	0.488000													16	33					0	0	0.000958276	0	0
NOS1AP	9722	broad.mit.edu	37	1	162302877	162302877	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:162302877A>C	ENST00000361897.5	+	5	817	c.415A>C	c.(415-417)Aat>Cat	p.N139H	NOS1AP_ENST00000530878.1_Missense_Mutation_p.N134H	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	139	PID.				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			TGGTGCCAGCAATATCTTCAG	0.433000													4	59					0	0	0.00116845	0	0
CYB5R4	51167	broad.mit.edu	37	6	84618798	84618798	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:84618798C>T	ENST00000369681.4	+	4	541	c.401C>T	c.(400-402)gCt>gTt	p.A134V	CYB5R4_ENST00000369679.4_Missense_Mutation_p.A100V	NM_016230.3	NP_057314.2	Q7L1T6	NB5R4_HUMAN	cytochrome b5 reductase 4	134					cell development|detection of oxygen|generation of precursor metabolites and energy|glucose homeostasis|insulin secretion|response to antibiotic|superoxide metabolic process	endoplasmic reticulum|perinuclear region of cytoplasm	cytochrome-b5 reductase activity|heme binding|NAD(P)H oxidase activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	23		all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128)		BRCA - Breast invasive adenocarcinoma(397;0.0871)		ATTAAACCTGCTGTTCTGAAA	0.393000													4	20					0	0	0.00116845	0	0
OPHN1	4983	broad.mit.edu	37	X	67273531	67273531	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:67273531C>T	ENST00000355520.5	-	22	2921	c.2280G>A	c.(2278-2280)aaG>aaA	p.K760K	OPHN1_ENST00000540071.1_Silent_p.K652K	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1	760	Pro-rich.				axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						CAATATCTGGCTTTGGTTCTG	0.547000													5	19					0	0	0.000602214	0	0
CTAGE1	64693	broad.mit.edu	37	18	19995711	19995711	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:19995711G>A	ENST00000391403.2	-	1	2167	c.2064C>T	c.(2062-2064)ttC>ttT	p.F688F		NM_172241.2	NP_758441.2	Q96RT6	CTGE2_HUMAN	cutaneous T-cell lymphoma-associated antigen 1	688	Pro-rich.					integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					GAGGTGGGGGGAAAGGAGGTC	0.507000													16	85					0	0	0.00074312	0	0
KDM6B	23135	broad.mit.edu	37	17	7753164	7753164	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:7753164C>T	ENST00000254846.5	+	12	3855	c.3466C>T	c.(3466-3468)Cga>Tga	p.R1156*	KDM6B_ENST00000448097.2_Nonsense_Mutation_p.R1156*	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	1156					inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.R1156*(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						AGGGAAGTTTCGAGAGTCCTA	0.547000													29	34					0	0	0.00178596	0	0
ILDR2	387597	broad.mit.edu	37	1	166908758	166908758	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:166908758A>C	ENST00000271417.3	-	4	604	c.549T>G	c.(547-549)atT>atG	p.I183M	ILDR2_ENST00000526687.1_Missense_Mutation_p.I183M|ILDR2_ENST00000529387.1_Intron|ILDR2_ENST00000469934.2_Missense_Mutation_p.I183M|ILDR2_ENST00000528703.1_Missense_Mutation_p.I183M|ILDR2_ENST00000529071.1_Intron|ILDR2_ENST00000525740.1_Intron	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	183						integral to membrane				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						TACCTGGCATAATCTCCACAG	0.408000													4	72					0	0	0.00024832	0	0
CFHR5	81494	broad.mit.edu	37	1	196971688	196971688	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:196971688G>A	ENST00000367414.5	+	8	1352	c.1296G>A	c.(1294-1296)caG>caA	p.Q432Q	CFHR5_ENST00000256785.4_Silent_p.Q408Q	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN	complement factor H-related 5	408	Sushi 7.				complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						TGAATTATCAGGATGGAGAAA	0.368000													17	25					0	0	0.000958276	0	0
SERPINA10	51156	broad.mit.edu	37	14	94754734	94754734	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:94754734C>T	ENST00000554723.1	-	3	1419	c.1001G>A	c.(1000-1002)gGa>gAa	p.G334E	SERPINA10_ENST00000261994.4_Missense_Mutation_p.G294E|SERPINA10_ENST00000393096.1_Missense_Mutation_p.G294E|SERPINA10_ENST00000554173.1_Missense_Mutation_p.G294E			Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	294					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		GGTGGCATTTCCTTGGTAGGG	0.502000													12	19					0	0	0.000978159	0	0
AP2A2	161	broad.mit.edu	37	11	988674	988674	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:988674C>T	ENST00000448903.2	+	10	1395	c.1254C>T	c.(1252-1254)tcC>tcT	p.S418S	AP2A2_ENST00000534328.1_Intron|AP2A2_ENST00000332231.5_Silent_p.S419S	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2 subunit	418					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	lipid binding|protein transporter activity			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		CTGACTACTCCATCCGAGAAG	0.602000													8	42					0	0	0.000673444	0	0
TENM1	10178	broad.mit.edu	37	X	123556265	123556265	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:123556265C>T	ENST00000422452.2	-	24	4391	c.4328G>A	c.(4327-4329)aGc>aAc	p.S1443N	TENM1_ENST00000371130.3_Missense_Mutation_p.S1436N|STAG2_ENST00000469481.1_3'UTR	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		GAGCAGCCCGCTGTGGGAGAC	0.537000													10	33					0	0	0.00185496	0	0
SCN2B	6327	broad.mit.edu	37	11	118037638	118037638	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:118037638C>T	ENST00000278947.5	-	4	853	c.612G>A	c.(610-612)acG>acA	p.T204T		NM_004588.4	NP_004579.1	O60939	SCN2B_HUMAN	sodium channel, voltage-gated, type II, beta subunit	204					synaptic transmission	voltage-gated sodium channel complex	voltage-gated sodium channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	7	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.19e-05)|Epithelial(105;0.00117)		CTTCACCGTCCGTCTTGCCCT	0.602000													11	54					0	0	0.00185496	0	0
TRBV6-4	28603	broad.mit.edu	37	7	142251123	142251123	+	RNA	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:142251123G>A	ENST00000390360.3	-	0	35																											CACAGCACAGGAGCCTGATGC	0.547000													9	40					0	0	0.000673444	0	0
CDCA2	157313	broad.mit.edu	37	8	25341548	25341548	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:25341548G>A	ENST00000330560.3	+	10	1664	c.1187G>A	c.(1186-1188)gGa>gAa	p.G396E	CDCA2_ENST00000521098.2_3'UTR|CDCA2_ENST00000380665.3_Missense_Mutation_p.G381E	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	396					cell division|mitosis	cytoplasm|nucleus				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		GTTACTTTTGGAGAGGACTTA	0.368000													18	89					0	0	0.000566183	0	0
GFRA2	2675	broad.mit.edu	37	8	21560414	21560414	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:21560414T>G	ENST00000524240.1	-	7	1771	c.1121A>C	c.(1120-1122)cAg>cCg	p.Q374P	GFRA2_ENST00000517328.1_Missense_Mutation_p.Q374P|GFRA2_ENST00000518077.1_Missense_Mutation_p.Q241P|GFRA2_ENST00000400782.4_Missense_Mutation_p.Q269P	NM_001495.4	NP_001486.4	O00451	GFRA2_HUMAN	GDNF family receptor alpha 2	374						anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|prostate(1)|skin(1)	7				Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)		CCGAGGGGCCTGGGTGGCCTG	0.627000													3	18					0	0	6.4e-05	0	0
ENPP3	5169	broad.mit.edu	37	6	131995398	131995398	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:131995398C>T	ENST00000414305.1	+	9	1067	c.739C>T	c.(739-741)Cca>Tca	p.P247S	ENPP3_ENST00000427148.2_Missense_Mutation_p.P213S|ENPP3_ENST00000543135.1_Missense_Mutation_p.P213S|ENPP3_ENST00000357639.3_Missense_Mutation_p.P247S|ENPP3_ENST00000358229.5_Missense_Mutation_p.P247S			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	247	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)		ACAAAATAATCCAGCCTGGTG	0.413000													7	17					0	0	0.000274275	0	0
PCDHA12	56137	broad.mit.edu	37	5	140256285	140256285	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:140256285G>A	ENST00000398631.2	+	1	1228	c.1228G>A	c.(1228-1230)Gac>Aac	p.D410N	PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1														NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTGGTGCTGGACAGCGCCCT	0.602000													53	80					0	0	0.00361006	0	0
SCN9A	6335	broad.mit.edu	37	2	167055571	167055571	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:167055571G>A	ENST00000303354.6	-	27	5921	c.5581C>T	c.(5581-5583)Cgt>Tgt	p.R1861C	SCN9A_ENST00000409435.1_Missense_Mutation_p.R1860C|SCN9A_ENST00000375387.4_Missense_Mutation_p.R1861C|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Missense_Mutation_p.R1849C			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1860						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)	ATCTGTGAACGAAGAGAATCC	0.453000													39	87					0	0	0.00195071	0	0
CACNA1A	773	broad.mit.edu	37	19	13566004	13566004	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:13566004C>T	ENST00000360228.5	-	2	315	c.316G>A	c.(316-318)Gcc>Acc	p.A106T	CACNA1A_ENST00000573710.2_Missense_Mutation_p.A106T	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	106					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	ATGATGGTGGCTAAAATCATA	0.478000													19	88					0	0	0.00152264	0	0
DSG1	1828	broad.mit.edu	37	18	28918397	28918397	+	Missense_Mutation	SNP	G	G	A	rs148956893		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:28918397G>A	ENST00000257192.4	+	10	1597	c.1385G>A	c.(1384-1386)gGa>gAa	p.G462E		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	462	Cadherin 4.				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding	p.G462E(1)		NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			AAATACCAAGGAACGATTCTC	0.328000													9	77					0	0	0.00136819	0	0
FAT3	120114	broad.mit.edu	37	11	92570934	92570934	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:92570934C>T	ENST00000298047.6	+	16	10347	c.10330C>T	c.(10330-10332)Ccg>Tcg	p.P3444S	FAT3_ENST00000525166.1_Missense_Mutation_p.P3294S|FAT3_ENST00000409404.2_Missense_Mutation_p.P3444S			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3444	Cadherin 31.				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)				TGACAACAGCCCGGTGTTTAC	0.468000										TCGA Ovarian(4;0.039)			57	200					0	0	0.00361006	0	0
DNAJC10	54431	broad.mit.edu	37	2	183624032	183624032	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:183624032A>T	ENST00000264065.6	+	21	2558	c.2143A>T	c.(2143-2145)Agg>Tgg	p.R715W		NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	715	Thioredoxin 4.				apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding			breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			GCTCTTGGCTAGGGTAAGTCA	0.333000													10	59					0	0	0.00244969	0	0
OR6Q1	219952	broad.mit.edu	37	11	57798742	57798742	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:57798742C>T	ENST00000302622.3	+	1	341	c.318C>T	c.(316-318)ttC>ttT	p.F106F	OR9Q1_ENST00000335397.3_Intron	NM_001005186.2	NP_001005186.2	Q8NGQ2	OR6Q1_HUMAN	olfactory receptor, family 6, subfamily Q, member 1	106					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(21;0.0707)|all_epithelial(135;0.142)				CCCAGCTCTTCATCTTCACCT	0.483000													14	59					0	0	0.00316338	0	0
OR52L1	338751	broad.mit.edu	37	11	6008119	6008119	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:6008119C>T	ENST00000332249.4	-	1	96	c.42G>A	c.(40-42)ttG>ttA	p.L14L		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, member 1	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGAGCATTATCAATGGCTTGG	0.453000													10	39					0	0	0.00136819	0	0
U2AF1L4	199746	broad.mit.edu	37	19	36234992	36234992	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:36234992A>G	ENST00000412391.2	-	6	416	c.403T>C	c.(403-405)Ttc>Ctc	p.F135L	AD000671.6_ENST00000589807.1_3'UTR|U2AF1L4_ENST00000378975.3_Missense_Mutation_p.F96L|U2AF1L4_ENST00000292879.5_Missense_Mutation_p.F96L			Q8WU68	U2AF4_HUMAN	U2 small nuclear RNA auxiliary factor 1-like 4	135	RRM.				mRNA processing|RNA splicing	nuclear speck|spliceosomal complex	nucleotide binding|RNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	8	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TGCCCGTTGAACCAGCGGTTA	0.577000													6	20					0	0	0.00116845	0	0
ZNF546	339327	broad.mit.edu	37	19	40520528	40520528	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:40520528C>T	ENST00000347077.4	+	7	1567	c.1351C>T	c.(1351-1353)Cgt>Tgt	p.R451C	ZNF546_ENST00000596894.1_Intron|ZNF546_ENST00000600094.1_Missense_Mutation_p.R425C	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	451					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					AAAAGCCTTTCGTCTTCAAAC	0.403000													5	35					0	0	0.000602214	0	0
DSCAM	1826	broad.mit.edu	37	21	41385037	41385037	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr21:41385037G>A	ENST00000400454.1	-	33	6440	c.5963C>T	c.(5962-5964)tCc>tTc	p.S1988F		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1988				HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966).	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	p.S1988F(1)		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)				TGATTCTTGGGAGCTGCTCAT	0.562000													5	22					0	0	0.000602214	0	0
LRRC7	57554	broad.mit.edu	37	1	70505212	70505212	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:70505212G>A	ENST00000310961.5	+	22	4024	c.3606G>A	c.(3604-3606)agG>agA	p.R1202R	LRRC7_ENST00000415775.2_Silent_p.R481R|LRRC7_ENST00000035383.5_Silent_p.R1197R			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1197						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TTACCCAAAGGAGGCCATTGT	0.468000													4	20					0	0	0.00024832	0	0
KCNQ3	3786	broad.mit.edu	37	8	133184930	133184930	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:133184930C>G	ENST00000388996.4	-	7	1475	c.1055G>C	c.(1054-1056)gGg>gCg	p.G352A	KCNQ3_ENST00000519445.1_Missense_Mutation_p.G352A|KCNQ3_ENST00000521134.1_Missense_Mutation_p.G232A	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	352					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			CAGCCCGGACCCCAGGATGCC	0.617000													5	43					0	0	0.000602214	0	0
PLCB1	23236	broad.mit.edu	37	20	8741080	8741080	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:8741080G>A	ENST00000378641.3	+	25	3158	c.2683G>A	c.(2683-2685)Gaa>Aaa	p.E895K	PLCB1_ENST00000378637.2_Missense_Mutation_p.E895K|PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000338037.6_Missense_Mutation_p.E895K	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	895					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						TGCCAAAACAGAAGATCTTAT	0.358000													10	53					0	0	0.000673444	0	0
MUC16	94025	broad.mit.edu	37	19	9075747	9075747	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:9075747G>A	ENST00000397910.4	-	3	11902	c.11699C>T	c.(11698-11700)tCc>tTc	p.S3900F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3901	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						TACACTGGAGGAGCTGGTAAC	0.458000													7	18					0	0	0.000274275	0	0
CTNND1	1500	broad.mit.edu	37	11	57563996	57563996	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:57563996T>G	ENST00000524630.1	+	6	1001	c.488T>G	c.(487-489)tTg>tGg	p.L163W	CTNND1_ENST00000532787.1_Missense_Mutation_p.L62W|CTNND1_ENST00000399050.4_Missense_Mutation_p.L163W|CTNND1_ENST00000530094.1_Missense_Mutation_p.L62W|CTNND1_ENST00000526772.1_Intron|CTNND1_ENST00000361796.4_Missense_Mutation_p.L163W|CTNND1_ENST00000531014.1_Intron|CTNND1_ENST00000532463.1_Missense_Mutation_p.L62W|CTNND1_ENST00000361332.4_Missense_Mutation_p.L163W|CTNND1_ENST00000529919.1_Missense_Mutation_p.L163W|CTNND1_ENST00000361391.6_Missense_Mutation_p.L163W|CTNND1_ENST00000526938.1_Missense_Mutation_p.L163W|CTNND1_ENST00000399039.4_Missense_Mutation_p.L163W|CTNND1_ENST00000533667.1_Intron|CTNND1_ENST00000532649.1_Missense_Mutation_p.L109W|CTNND1_ENST00000360682.6_Missense_Mutation_p.L163W|CTNND1_ENST00000532844.1_Missense_Mutation_p.L109W|CTNND1_ENST00000529873.1_Missense_Mutation_p.L109W|CTNND1_ENST00000529526.1_Missense_Mutation_p.L109W|CTNND1_ENST00000530748.1_Missense_Mutation_p.L109W|CTNND1_ENST00000415361.2_Missense_Mutation_p.L62W|CTNND1_ENST00000529986.1_Missense_Mutation_p.L62W|CTNND1_ENST00000426142.2_Missense_Mutation_p.L62W|CTNND1_ENST00000428599.2_Missense_Mutation_p.L163W|CTNND1_ENST00000534579.1_Missense_Mutation_p.L109W|CTNND1_ENST00000525902.1_Intron|CTNND1_ENST00000358694.6_Missense_Mutation_p.L163W|CTNND1_ENST00000528232.1_Missense_Mutation_p.L62W|CTNND1_ENST00000532245.1_Missense_Mutation_p.L62W|CTNND1_ENST00000528621.1_Missense_Mutation_p.L109W|CTNND1_ENST00000527467.1_Intron|CTNND1_ENST00000526357.1_Missense_Mutation_p.L109W			O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	163					adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				CCAGACGGGTTGCCTGTGGAT	0.473000													12	28					0	0	0.000978159	0	0
MYH8	4626	broad.mit.edu	37	17	10304634	10304634	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:10304634G>A	ENST00000403437.2	-	24	3160	c.3066C>T	c.(3064-3066)atC>atT	p.I1022I	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1022					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CTTTGGTCAGGATGTTGACTT	0.403000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				104	67					0	0	0.00361006	0	0
VWF	7450	broad.mit.edu	37	12	6061640	6061640	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:6061640C>T	ENST00000261405.5	-	49	8286	c.8032G>A	c.(8032-8034)Gtc>Atc	p.V2678I		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	2678					blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CTCTCATTGACCTTGCAGAAG	0.512000													10	19					0	0	0.000673444	0	0
METTL14	57721	broad.mit.edu	37	4	119626904	119626904	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:119626904C>T	ENST00000388822.4	+	10	1161	c.994C>T	c.(994-996)Cat>Tat	p.H332Y	METTL14_ENST00000506780.1_Missense_Mutation_p.H294Y			Q9HCE5	MTL14_HUMAN	methyltransferase like 14	332						nucleus	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)	16						AGAAATTTTTCATATAATTGA	0.353000													31	34					0	0	0.00428921	0	0
LIMCH1	22998	broad.mit.edu	37	4	41496613	41496613	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:41496613C>T	ENST00000313860.7	+	2	211	c.157C>T	c.(157-159)Ctc>Ttc	p.L53F	LIMCH1_ENST00000512946.1_Missense_Mutation_p.L53F|LIMCH1_ENST00000509638.1_Intron|LIMCH1_ENST00000512632.1_Missense_Mutation_p.L53F|LIMCH1_ENST00000512820.1_Missense_Mutation_p.L53F|LIMCH1_ENST00000508501.1_Missense_Mutation_p.L53F|LIMCH1_ENST00000513024.1_5'UTR	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	53	CH.				actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						AAATGGAATCCTCCTCTGCGA	0.333000													25	95					0	0	0.00106085	0	0
SELE	6401	broad.mit.edu	37	1	169698418	169698418	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:169698418G>A	ENST00000333360.7	-	7	1138	c.999C>T	c.(997-999)ttC>ttT	p.F333F	SELE_ENST00000367777.1_Silent_p.F333F|SELE_ENST00000367776.1_Silent_p.F333F|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367781.4_Silent_p.F333F|SELE_ENST00000367779.4_Silent_p.F333F|SELE_ENST00000367774.1_Silent_p.F333F|SELE_ENST00000367775.1_Silent_p.F271F|SELE_ENST00000367782.4_Silent_p.F333F|SELE_ENST00000367780.4_Silent_p.F271F	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	333	Sushi 3.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					CCTCACAGGTGAAGTTGCAGG	0.552000													6	22					0	0	0.00116845	0	0
FBXO18	84893	broad.mit.edu	37	10	5963508	5963508	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:5963508C>T	ENST00000379999.5	+	16	2555	c.2451C>T	c.(2449-2451)ttC>ttT	p.F817F	FBXO18_ENST00000379994.1_Intron|FBXO18_ENST00000397269.3_Silent_p.F253F|FBXO18_ENST00000362091.4_Silent_p.F766F	NM_032807.4	NP_116196.3	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	766					DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						AAGGGGAATTCCCTTCAAGGA	0.493000													12	49					0	0	0.00244969	0	0
C20orf26	26074	broad.mit.edu	37	20	20071504	20071504	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:20071504G>A	ENST00000245957.5	+	7	659	c.583G>A	c.(583-585)Gat>Aat	p.D195N	C20orf26_ENST00000377306.1_Missense_Mutation_p.D195N|C20orf26_ENST00000451767.2_Missense_Mutation_p.D195N|C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000377309.2_5'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	195								p.D195N(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		AGACCATGACGATCTCATGCC	0.438000													21	118					0	0	0.00229938	0	0
CWH43	80157	broad.mit.edu	37	4	49052849	49052849	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:49052849A>T	ENST00000226432.4	+	15	2187	c.2004A>T	c.(2002-2004)aaA>aaT	p.K668N	CWH43_ENST00000513409.1_Missense_Mutation_p.K641N	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	668					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						TTTCTGAGAAAATTCATTTTA	0.388000													5	18					0	0	0.00116845	0	0
GBP6	163351	broad.mit.edu	37	1	89848427	89848427	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:89848427G>A	ENST00000370456.4	+	8	1450	c.1357G>A	c.(1357-1359)Gga>Aga	p.G453R	GBP6_ENST00000535065.1_Missense_Mutation_p.G323R	NM_198460.2	NP_940862.2	Q6ZN66	GBP6_HUMAN	guanylate binding protein family, member 6	453							GTP binding|GTPase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		TCCCAGGAAAGGAGTAAAGGT	0.463000													18	26					0	0	0.00188189	0	0
INHBE	83729	broad.mit.edu	37	12	57849565	57849565	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:57849565G>A	ENST00000266646.2	+	1	462	c.246G>A	c.(244-246)ggG>ggA	p.G82G	INHBE_ENST00000551553.1_Intron	NM_031479.3	NP_113667.1	P58166	INHBE_HUMAN	inhibin, beta E	82					growth	extracellular region	growth factor activity|hormone activity			breast(2)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	15						TACAGCCAGGGAGTGTGGCTC	0.587000											OREG0021944	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	9					0	0	0.000978159	0	0
ZNF528	84436	broad.mit.edu	37	19	52918992	52918992	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:52918992C>T	ENST00000360465.3	+	7	1313	c.887C>T	c.(886-888)cCt>cTt	p.P296L	ZNF528_ENST00000391788.2_3'UTR	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	296					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		GGAGAGAAGCCTTACAAATGT	0.373000													17	91					0	0	0.00121646	0	0
GRIA4	2893	broad.mit.edu	37	11	105775927	105775927	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:105775927G>A	ENST00000393127.2	+	9	1504	c.1058G>A	c.(1057-1059)cGa>cAa	p.R353Q	GRIA4_ENST00000530497.1_Missense_Mutation_p.R353Q|GRIA4_ENST00000428631.2_Missense_Mutation_p.R353Q|GRIA4_ENST00000282499.5_Missense_Mutation_p.R353Q|GRIA4_ENST00000393125.2_Missense_Mutation_p.R353Q|GRIA4_ENST00000525187.1_Missense_Mutation_p.R353Q	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	353					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)	ACTTAGGTTCGAATTCAAGGG	0.383000													13	65					0	0	0.000566183	0	0
AMOTL1	154810	broad.mit.edu	37	11	94533298	94533298	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:94533298C>T	ENST00000433060.2	+	3	1083	c.942C>T	c.(940-942)ccC>ccT	p.P314P	AMOTL1_ENST00000317837.9_Silent_p.P314P|AMOTL1_ENST00000317829.8_Silent_p.P264P	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	314						cytoplasm|tight junction	identical protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				CTGAGTACCCCTTCAAGACCA	0.597000													14	36					0	0	0.00316338	0	0
SLC22A11	55867	broad.mit.edu	37	11	64326684	64326684	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:64326684C>T	ENST00000301891.4	+	2	845	c.471C>T	c.(469-471)tcC>tcT	p.S157S	SLC22A11_ENST00000377581.3_Silent_p.S157S|SLC22A11_ENST00000377585.3_Silent_p.S157S|SLC22A11_ENST00000490834.1_Intron	NM_018484.2	NP_060954.1	Q9NSA0	S22AB_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 11	157					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)	TGGTGGGCTCCTTTATCTGGG	0.602000													4	26					0	0	0.00024832	0	0
HSD17B6	8630	broad.mit.edu	37	12	57178711	57178711	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:57178711T>C	ENST00000554643.1	+	5	996	c.647T>C	c.(646-648)aTg>aCg	p.M216T	HSD17B6_ENST00000322165.1_Missense_Mutation_p.M216T|HSD17B6_ENST00000555159.1_Missense_Mutation_p.M216T|HSD17B6_ENST00000555805.1_Missense_Mutation_p.M216T|HSD17B6_ENST00000554150.1_Missense_Mutation_p.M216T			O14756	H17B6_HUMAN	hydroxysteroid (17-beta) dehydrogenase 6	216					androgen biosynthetic process|androgen catabolic process	early endosome membrane|endoplasmic reticulum|microsome	binding|electron carrier activity|estradiol 17-beta-dehydrogenase activity|retinol dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity			endometrium(1)|large_intestine(2)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10					Succinic acid(DB00139)	ATGACAAACATGACACAGTCC	0.423000													19	79					0	0	0.000958276	0	0
PHF14	9678	broad.mit.edu	37	7	11053476	11053476	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:11053476C>T	ENST00000403050.3	+	5	1600	c.1148C>T	c.(1147-1149)cCt>cTt	p.P383L	PHF14_ENST00000445996.2_Missense_Mutation_p.P98L	NM_014660.3	NP_055475.2	O94880	PHF14_HUMAN	PHD finger protein 14	383							zinc ion binding			NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		GGTGTTTCTCCTAGCTGTGAA	0.388000													5	45					0	0	0.00198382	0	0
ATP13A5	344905	broad.mit.edu	37	3	193007815	193007815	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:193007815G>A	ENST00000342358.4	-	26	2999	c.2882C>T	c.(2881-2883)cCa>cTa	p.P961L	ATP13A5_ENST00000495496.1_5'UTR	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	961					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		TGGTCTATATGGAGCCAGCTT	0.383000													4	15					0	0	0.000602214	0	0
CFAP221	200373	broad.mit.edu	37	2	120409610	120409610	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:120409610C>T	ENST00000602047.1	+	24	2633	c.1521C>T	c.(1519-1521)ttC>ttT	p.F507F	PCDP1_ENST00000413369.3_Silent_p.F793F			Q4G0U5	PCDP1_HUMAN		793						cilium	calmodulin binding					Colorectal(110;0.196)					AAGTGGAATTCCCTATGTTGA	0.373000													4	24					0	0	0.000602214	0	0
CPNE3	8895	broad.mit.edu	37	8	87557023	87557023	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:87557023A>G	ENST00000521271.1	+	9	851	c.689A>G	c.(688-690)cAg>cGg	p.Q230R	CPNE3_ENST00000198765.4_Missense_Mutation_p.Q230R	NM_003909.3	NP_003900.1	O75131	CPNE3_HUMAN	copine III	230	C2 2.				lipid metabolic process|vesicle-mediated transport	cytosol	calcium-dependent phospholipid binding|protein serine/threonine kinase activity|transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	23						GGAACATTTCAGACCACCATG	0.308000													72	159					0	0	0.00361006	0	0
C8orf34	116328	broad.mit.edu	37	8	69728180	69728180	+	Splice_Site	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:69728180G>A	ENST00000337103.4	+	12	2868	c.1276_splice	c.e12+1	p.G426_splice	C8orf34_ENST00000539993.1_Splice_Site_p.G451_splice|C8orf34_ENST00000518698.1_Splice_Site_p.G537_splice			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	451			A -> T (in dbSNP:rs16935065).		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)			GGTCTACTCTGGTATGTTTGC	0.448000													15	86					0	0	0.00400662	0	0
NLRP14	338323	broad.mit.edu	37	11	7070920	7070920	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:7070920C>T	ENST00000299481.4	+	6	2488	c.2142C>T	c.(2140-2142)ttC>ttT	p.F714F		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	714					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		TTATCACTTTCCCTGATGGTT	0.358000													8	64					0	0	0.000442599	0	0
CDC7	8317	broad.mit.edu	37	1	91977433	91977433	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:91977433C>T	ENST00000428239.1	+	6	784	c.525C>T	c.(523-525)caC>caT	p.H175H	CDC7_ENST00000430031.2_Silent_p.H147H|CDC7_ENST00000234626.6_Silent_p.H175H	NM_001134420.1	NP_001127892.1	O00311	CDC7_HUMAN	cell division cycle 7	175	Protein kinase.				cell cycle checkpoint|cell division|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|positive regulation of cell proliferation|regulation of S phase	cytoplasm|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2)	23		all_lung(203;0.0165)|Lung NSC(277;0.0562)		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)		GTATTGTTCACCGTGATGTTA	0.313000													19	30					0	0	0.00152264	0	0
TMOD2	29767	broad.mit.edu	37	15	52060517	52060517	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:52060517G>A	ENST00000249700.4	+	3	406	c.185G>A	c.(184-186)gGc>gAc	p.G62D	TMOD2_ENST00000435126.2_Missense_Mutation_p.G62D|TMOD2_ENST00000539962.2_Missense_Mutation_p.G18D	NM_001142885.1|NM_014548.3	NP_001136357.1|NP_055363.1	Q9NZR1	TMOD2_HUMAN	tropomodulin 2 (neuronal)	62					nervous system development	cytoplasm|cytoskeleton	actin binding|tropomyosin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16				all cancers(107;0.00435)		GCAGCCACCGGCCCCTTTGAC	0.537000													6	11					0	0	0.00198382	0	0
GPR101	83550	broad.mit.edu	37	X	136112390	136112390	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:136112390C>T	ENST00000298110.1	-	1	1443	c.1444G>A	c.(1444-1446)Gat>Aat	p.D482N		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	482						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					GGGTGGCTATCTTCTTTCGGG	0.483000													9	34					0	0	0.000442599	0	0
NLRP14	338323	broad.mit.edu	37	11	7063651	7063651	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:7063651G>A	ENST00000299481.4	+	4	740	c.394G>A	c.(394-396)Gaa>Aaa	p.E132K		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	132					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		TAGAATAAAGGAAAAATTTTG	0.338000													16	56					0	0	0.00121646	0	0
JAKMIP2	9832	broad.mit.edu	37	5	147020381	147020381	+	Silent	SNP	A	A	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:147020381A>C	ENST00000265272.5	-	9	1754	c.1287T>G	c.(1285-1287)ccT>ccG	p.P429P	JAKMIP2_ENST00000507386.1_Silent_p.P429P|JAKMIP2_ENST00000333010.6_Silent_p.P387P	NM_014790.3	NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	429						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTCCAAAACAGGCCTCTAAA	0.418000													5	22					0	0	0.00198382	0	0
LSM14A	26065	broad.mit.edu	37	19	34685389	34685389	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:34685389C>T	ENST00000544216.3	+	2	205	c.128C>T	c.(127-129)tCc>tTc	p.S43F	LSM14A_ENST00000540746.2_Missense_Mutation_p.S43F|LSM14A_ENST00000433627.5_Missense_Mutation_p.S43F	NM_015578.2	NP_056393.2	Q8ND56	LS14A_HUMAN	LSM14A, SCD6 homolog A (S. cerevisiae)	43					cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation	cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule				breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22	Esophageal squamous(110;0.162)					CCAGTTCGATCCTTTGGTACA	0.403000													40	37					0	0	0.00361006	0	0
KEL	3792	broad.mit.edu	37	7	142658153	142658153	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:142658153G>A	ENST00000355265.2	-	4	736	c.262C>T	c.(262-264)Cat>Tat	p.H88Y	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	88					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GCCAGGTAATGATCCCGGAGA	0.542000													7	49					0	0	0.00307968	0	0
DSCAML1	57453	broad.mit.edu	37	11	117329626	117329626	+	Splice_Site	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:117329626C>T	ENST00000321322.6	-	19	3594		c.e19-1		DSCAML1_ENST00000527706.1_Splice_Site	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1						axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TCGCCCCACTCTGCCAGAGAC	0.642000													7	39					0	0	0.00198382	0	0
OR52J3	119679	broad.mit.edu	37	11	5068032	5068032	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:5068032G>A	ENST00000380370.1	+	1	277	c.277G>A	c.(277-279)Gag>Aag	p.E93K		NM_001001916.2	NP_001001916.2	Q8NH60	O52J3_HUMAN	olfactory receptor, family 52, subfamily J, member 3	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E93K(1)		NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGATGCTCACGAGATTAACTA	0.488000													11	16					0	0	0.00136819	0	0
PRLR	5618	broad.mit.edu	37	5	35072711	35072711	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:35072711A>G	ENST00000382002.5	-	6	935	c.509T>C	c.(508-510)aTt>aCt	p.I170T	PRLR_ENST00000348262.3_Missense_Mutation_p.I170T|PRLR_ENST00000310101.5_Missense_Mutation_p.I170T|PRLR_ENST00000542609.1_Missense_Mutation_p.I170T|PRLR_ENST00000342362.5_Missense_Mutation_p.I69T|PRLR_ENST00000513753.1_Missense_Mutation_p.I170T|PRLR_ENST00000231423.3_Missense_Mutation_p.I170T|PRLR_ENST00000509934.1_5'UTR|PRLR_ENST00000511486.1_Missense_Mutation_p.I69T|PRLR_ENST00000397391.3_Missense_Mutation_p.I99T	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	170	Fibronectin type-III 2.				activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	TTTTAATCGAATTTCATACAG	0.443000													11	74					0	0	0.00185496	0	0
ZNF625	90589	broad.mit.edu	37	19	12256823	12256823	+	Silent	SNP	T	T	C	rs34016739		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:12256823T>C	ENST00000355738.1	-	4	559	c.210A>G	c.(208-210)aaA>aaG	p.K70K	ZNF625_ENST00000439556.2_Silent_p.K136K|ZNF625_ENST00000455799.1_3'UTR|ZNF625_ENST00000542938.1_Silent_p.K70K|ZNF625-ZNF20_ENST00000430024.1_Intron			Q96I27	ZN625_HUMAN	zinc finger protein 625	70					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(4)|skin(2)	14						AGTATGTACATTTATATGGCT	0.458000													10	47					0	0	0.000442599	0	0
EDN2	1907	broad.mit.edu	37	1	41948242	41948242	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:41948242C>T	ENST00000372587.4	-	3	308	c.239G>A	c.(238-240)gGc>gAc	p.G80D	EDN2_ENST00000490783.1_5'UTR	NM_001956.3	NP_001947.1	P20800	EDN2_HUMAN	endothelin 2	80					artery smooth muscle contraction|calcium-mediated signaling|cytokine-mediated signaling pathway|elevation of cytosolic calcium ion concentration|hormonal regulation of the force of heart contraction|inositol phosphate-mediated signaling|macrophage activation|macrophage chemotaxis|neutrophil chemotaxis|positive regulation of cell proliferation|positive regulation of heart rate|positive regulation of leukocyte chemotaxis|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of the force of heart contraction by chemical signal|prostaglandin biosynthetic process|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	extracellular space	endothelin B receptor binding|hormone activity			endometrium(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	8	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GTTTCCCAGGCCGTAAGGAGC	0.602000													20	25					0	0	0.00229938	0	0
ANKRD40	91369	broad.mit.edu	37	17	48777138	48777138	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:48777138T>C	ENST00000285243.6	-	3	669	c.400A>G	c.(400-402)Aca>Gca	p.T134A		NM_052855.3	NP_443087.1	Q6AI12	ANR40_HUMAN	ankyrin repeat domain 40	134										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11			BRCA - Breast invasive adenocarcinoma(22;2.03e-09)			GCTGTGGGTGTATAGATAAAA	0.552000													11	17					0	0	0.00136819	0	0
ZZEF1	23140	broad.mit.edu	37	17	3975958	3975958	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:3975958G>A	ENST00000381638.2	-	25	3902	c.3778C>T	c.(3778-3780)Cca>Tca	p.P1260S		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	1260							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						TCCAACTCTGGACAAACCTGA	0.453000													21	27					0	0	0.00121646	0	0
NSUN5	55695	broad.mit.edu	37	7	72717711	72717711	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:72717711G>A	ENST00000428206.1	-	9	1071	c.1058C>T	c.(1057-1059)cCc>cTc	p.P353L	NSUN5_ENST00000252594.6_Missense_Mutation_p.P391L|NSUN5_ENST00000310326.8_Missense_Mutation_p.P391L|NSUN5_ENST00000438747.2_Missense_Mutation_p.P391L	NM_001168348.1	NP_001161820.1	Q96P11	NSUN5_HUMAN	NOP2/Sun domain family, member 5	391							methyltransferase activity			breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Lung NSC(55;0.163)				GCCTCGGTGGGGCCAGGCAGG	0.667000													9	20					0	0	0.000442599	0	0
IL1RAPL2	26280	broad.mit.edu	37	X	105011477	105011477	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:105011477G>A	ENST00000372582.1	+	11	2640	c.1884G>A	c.(1882-1884)acG>acA	p.T628T	IL1RAPL2_ENST00000538500.1_Silent_p.T233T|IL1RAPL2_ENST00000344799.4_Silent_p.T628T	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	628					central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TACCAGCCACGACCTTGCCAG	0.473000													15	41					0	0	0.000958276	0	0
SPTBN2	6712	broad.mit.edu	37	11	66473164	66473164	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:66473164G>A	ENST00000533211.1	-	14	2129	c.1798C>T	c.(1798-1800)Cca>Tca	p.P600S	SPTBN2_ENST00000529997.1_Missense_Mutation_p.P600S|SPTBN2_ENST00000309996.2_Missense_Mutation_p.P600S			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	600					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CCTTTCCCTGGGTTGCAGAAG	0.662000													4	15					0	0	0.000602214	0	0
SLC22A6	9356	broad.mit.edu	37	11	62748520	62748520	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:62748520G>A	ENST00000377871.3	-	6	1240	c.974C>T	c.(973-975)tCg>tTg	p.S325L	SLC22A6_ENST00000458333.2_Missense_Mutation_p.S325L|SLC22A6_ENST00000537349.1_5'UTR|SLC22A6_ENST00000421062.2_Missense_Mutation_p.S325L|SLC22A6_ENST00000360421.4_Missense_Mutation_p.S325L	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	325					alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						CTCCATGGCCGATGCCTGGCC	0.642000													5	14					0	0	0.00198382	0	0
NCAM1	4684	broad.mit.edu	37	11	113105838	113105838	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:113105838G>A	ENST00000316851.7	+	13	1747	c.1747G>A	c.(1747-1749)Ggg>Agg	p.G583R	NCAM1_ENST00000533760.1_Missense_Mutation_p.G465R|NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Missense_Mutation_p.G592R	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	593	Fibronectin type-III 1.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		CAATGGCAAAGGGCTGGGTGA	0.597000													3	7					0	0	6.4e-05	0	0
DNAH3	55567	broad.mit.edu	37	16	21078707	21078707	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:21078707G>A	ENST00000261383.3	-	24	3414	c.3415C>T	c.(3415-3417)Cag>Tag	p.Q1139*	DNAH3_ENST00000415178.1_Nonsense_Mutation_p.Q1139*	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1139	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ATCCGTGGCTGGTCGGCTGCC	0.453000													14	73					0	0	0.00316338	0	0
PLXNA4	91584	broad.mit.edu	37	7	131866180	131866180	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:131866180C>T	ENST00000359827.3	-	18	4414	c.3452G>A	c.(3451-3453)gGa>gAa	p.G1151E	PLXNA4_ENST00000321063.4_Missense_Mutation_p.G1151E			Q9HCM2	PLXA4_HUMAN	plexin A4	1151	IPT/TIG 4.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CTCCAGGATTCCTGAGGGACC	0.577000													7	112					0	0	0.000442599	0	0
EGFLAM	133584	broad.mit.edu	37	5	38451442	38451442	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:38451442T>C	ENST00000322350.5	+	19	2915	c.2569T>C	c.(2569-2571)Ttc>Ctc	p.F857L	EGFLAM_ENST00000397202.2_Missense_Mutation_p.F223L|EGFLAM_ENST00000336740.6_Missense_Mutation_p.F623L|EGFLAM_ENST00000514476.1_5'UTR|EGFLAM_ENST00000397210.3_5'UTR|EGFLAM_ENST00000506135.1_5'UTR|EGFLAM_ENST00000354891.3_Missense_Mutation_p.F865L	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	865	Laminin G-like 3.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					ATCAAATGTGTTCATGAGGTT	0.473000													16	85					0	0	0.000958276	0	0
GRIK2	2898	broad.mit.edu	37	6	102307252	102307252	+	Silent	SNP	T	T	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:102307252T>C	ENST00000369138.1	+	10	1898	c.1408T>C	c.(1408-1410)Tta>Cta	p.L470L	GRIK2_ENST00000369134.4_Silent_p.L421L|GRIK2_ENST00000369137.3_Silent_p.L470L|GRIK2_ENST00000413795.1_Silent_p.L470L|GRIK2_ENST00000421544.1_Silent_p.L470L|GRIK2_ENST00000318991.6_Silent_p.L470L	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	470					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	CCTCAGAGAGTTATCTACAAT	0.398000													20	21					0	0	0.000958276	0	0
TRRAP	8295	broad.mit.edu	37	7	98547192	98547192	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:98547192C>T	ENST00000359863.4	+	35	5129	c.4920C>T	c.(4918-4920)ttC>ttT	p.F1640F	TRRAP_ENST00000355540.3_Silent_p.F1622F|TRRAP_ENST00000446306.3_Silent_p.F1621F	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1640					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			ACCTCCAGTTCCAGGCCATCA	0.607000													20	9					0	0	0.00121646	0	0
IFT140	9742	broad.mit.edu	37	16	1633354	1633354	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:1633354C>T	ENST00000426508.2	-	12	1756	c.1393G>A	c.(1393-1395)Gcg>Acg	p.A465T	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)	465										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)				TCGAAGATCGCCACCTGCCTT	0.567000													4	23					0	0	0.000602214	0	0
CELSR2	1952	broad.mit.edu	37	1	109795165	109795165	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:109795165G>A	ENST00000271332.3	+	1	2525	c.2464G>A	c.(2464-2466)Ggc>Agc	p.G822S		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	822	Cadherin 7.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CTCCTACCAGGGCAGTGTCTA	0.542000													38	168					0	0	0.00170553	0	0
ALPK2	115701	broad.mit.edu	37	18	56205126	56205126	+	Missense_Mutation	SNP	G	G	A	rs115584025	byFrequency	TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:56205126G>A	ENST00000361673.3	-	5	2506	c.2293C>T	c.(2293-2295)Cgt>Tgt	p.R765C	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	765							ATP binding|protein serine/threonine kinase activity	p.R765S(1)|p.R131S(1)		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						AAGTCAGCACGAGCATCCTTG	0.517000													42	13					0	0	0.00222228	0	0
CUX1	1523	broad.mit.edu	37	7	101840329	101840329	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:101840329C>T	ENST00000360264.3	+	15	1691	c.1671C>T	c.(1669-1671)tcC>tcT	p.S557S	CUX1_ENST00000550008.2_Silent_p.S546S|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000556210.1_Silent_p.S444S|CUX1_ENST00000549414.2_Silent_p.S546S|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000546411.2_Silent_p.S444S|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000292535.7_Silent_p.S546S|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000425244.2_Intron	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	546					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GGAGCGTCTCCGAGGGCGAGG	0.517000													13	90					0	0	0.00185496	0	0
PKHD1	5314	broad.mit.edu	37	6	51712650	51712650	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:51712650G>A	ENST00000371117.3	-	50	8305	c.8030C>T	c.(8029-8031)cCa>cTa	p.P2677L	PKHD1_ENST00000340994.4_Missense_Mutation_p.P2677L	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2677					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TGGAAGAAATGGAAAAGACAG	0.483000													10	68					0	0	0.000673444	0	0
HCK	3055	broad.mit.edu	37	20	30686817	30686817	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:30686817C>T	ENST00000534862.1	+	13	1560	c.1197C>T	c.(1195-1197)ttC>ttT	p.F399F	HCK_ENST00000518730.1_Silent_p.F397F|HCK_ENST00000375862.2_Silent_p.F418F|HCK_ENST00000375852.2_Silent_p.F419F|HCK_ENST00000538448.1_Silent_p.F398F|HCK_ENST00000520553.1_Silent_p.F398F	NM_001172132.1	NP_001165603.1	P08631	HCK_HUMAN	hemopoietic cell kinase	419	Protein kinase.		D -> G (in an ovarian mucinous carcinoma sample; somatic mutation).		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)			GGGCCAAGTTCCCCATCAAGT	0.567000													11	63					0	0	0.00316338	0	0
HMMR	3161	broad.mit.edu	37	5	162910346	162910346	+	Silent	SNP	A	A	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:162910346A>G	ENST00000416990.2	+	15	1910	c.1413A>G	c.(1411-1413)gaA>gaG	p.E471E	RP11-80G7.1_ENST00000521666.1_RNA|RP11-80G7.1_ENST00000514724.2_RNA|HMMR_ENST00000358715.3_Silent_p.E585E|HMMR_ENST00000393915.4_Silent_p.E586E|HMMR_ENST00000353866.3_Silent_p.E570E|HMMR_ENST00000432118.2_Silent_p.E499E			O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor (RHAMM)	585						cell surface|cytoplasm	hyaluronic acid binding			cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)		TCTATGAAGAACTATATAATA	0.318000													10	84					0	0	0.000978159	0	0
LYPD2	137797	broad.mit.edu	37	8	143833821	143833821	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:143833821C>T	ENST00000359228.3	-	1	131	c.49G>A	c.(49-51)Gga>Aga	p.G17R		NM_205545.1	NP_991108.1	Q6UXB3	LYPD2_HUMAN	LY6/PLAUR domain containing 2	17						anchored to membrane|plasma membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(2)	7	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					CCCAGCTCTCCGCAGGCAGCC	0.706000													10	40					0	0	0.000978159	0	0
SCN11A	11280	broad.mit.edu	37	3	38936198	38936198	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:38936198C>T	ENST00000450244.1	-	15	2859	c.2661G>A	c.(2659-2661)atG>atA	p.M887I	SCN11A_ENST00000456224.3_Missense_Mutation_p.M887I|SCN11A_ENST00000444237.2_Missense_Mutation_p.M887I|SCN11A_ENST00000302328.3_Missense_Mutation_p.M887I			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	887					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)	AGCCCCTTTTCATCTCCATGA	0.527000													10	33					0	0	0.000673444	0	0
LRP2	4036	broad.mit.edu	37	2	170058349	170058349	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:170058349G>A	ENST00000263816.3	-	44	8526	c.8241C>T	c.(8239-8241)acC>acT	p.T2747T		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2747	LDL-receptor class A 17.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CATTGGCACAGGTGAAGGCTG	0.448000													13	26					0	0	0.00316338	0	0
TSSC4	10078	broad.mit.edu	37	11	2423941	2423941	+	Silent	SNP	C	C	T	rs147689306		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:2423941C>T	ENST00000333256.6	+	3	521	c.78C>T	c.(76-78)tcC>tcT	p.S26S	TSSC4_ENST00000380992.1_Intron|TSSC4_ENST00000451491.2_Silent_p.S26S|TSSC4_ENST00000380996.5_Intron			Q9Y5U2	TSSC4_HUMAN	tumor suppressing subtransferable candidate 4	26										endometrium(3)|large_intestine(1)|lung(4)	8		all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.00145)|LUSC - Lung squamous cell carcinoma(625;0.19)		CGCTGCCTTCCGACACAGTCT	0.652000													20	69					0	0	0.00332997	0	0
LIMK1	3984	broad.mit.edu	37	7	73520478	73520478	+	Silent	SNP	G	G	A	rs55770268		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:73520478G>A	ENST00000418310.1	+	7	978	c.876G>A	c.(874-876)ctG>ctA	p.L292L	LIMK1_ENST00000336180.2_Silent_p.L262L|LIMK1_ENST00000538333.3_Silent_p.L228L			P53667	LIMK1_HUMAN	LIM domain kinase 1	262					actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|Rho protein signal transduction	cytosol|growth cone|nucleus	ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21		Lung NSC(55;0.137)				ACGATACACTGGGCCACGGGC	0.632000													88	50					0	0	0.00361006	0	0
FAM220A	84792	broad.mit.edu	37	7	6370348	6370348	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:6370348G>A	ENST00000313324.4	-	2	905	c.438C>T	c.(436-438)ccC>ccT	p.P146P		NM_001037163.1	NP_001032240.1	Q7Z4H9	SIPAR_HUMAN	family with sequence similarity 220, member A	146						nucleus											GCTCTCCTTTGGGGCACTGTC	0.607000													31	13					0	0	0.00209593	0	0
HOXA3	3200	broad.mit.edu	37	7	27148090	27148090	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:27148090G>A	ENST00000396352.4	-	3	975	c.776C>T	c.(775-777)tCg>tTg	p.S259L	HOXA3_ENST00000317201.2_Missense_Mutation_p.S259L|HOXA-AS2_ENST00000518088.1_RNA	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3	259					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						CTGGCCCCCCGATGACGTTAG	0.577000													13	77					0	0	0.00316338	0	0
ITSN2	50618	broad.mit.edu	37	2	24507641	24507641	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:24507641G>A	ENST00000355123.4	-	17	2378	c.1935C>T	c.(1933-1935)ctC>ctT	p.L645L	ITSN2_ENST00000361999.3_Intron|ITSN2_ENST00000406921.3_Silent_p.L645L	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	645					endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTTAAGTAAGAGGAAGAGGT	0.338000													27	116					0	0	0.00209593	0	0
PTK2B	2185	broad.mit.edu	37	8	27296843	27296843	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:27296843C>T	ENST00000397501.1	+	25	2570	c.1762C>T	c.(1762-1764)Ccc>Tcc	p.P588S	PTK2B_ENST00000338238.4_Missense_Mutation_p.P588S|PTK2B_ENST00000346049.5_Missense_Mutation_p.P588S|PTK2B_ENST00000397497.4_Missense_Mutation_p.P334S|PTK2B_ENST00000517339.1_Missense_Mutation_p.P588S|PTK2B_ENST00000544172.1_Missense_Mutation_p.P588S|PTK2B_ENST00000420218.2_Missense_Mutation_p.P588S	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	588	Protein kinase.				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		GACTCGTCTCCCCATCAAATG	0.473000													25	98					0	0	0.0024448	0	0
DNAH2	146754	broad.mit.edu	37	17	7727910	7727910	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:7727910G>A	ENST00000572933.1	+	77	13178	c.11718G>A	c.(11716-11718)ctG>ctA	p.L3906L	DNAH2_ENST00000389173.2_Silent_p.L3906L			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3906	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TGCCTAATCTGGACAAGCTGG	0.562000													10	37					0	0	0.00244969	0	0
EPHA7	2045	broad.mit.edu	37	6	94120510	94120510	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:94120510C>T	ENST00000369303.4	-	3	725	c.541G>A	c.(541-543)Gga>Aga	p.G181R	EPHA7_ENST00000369297.1_Missense_Mutation_p.G181R	NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	181						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		AGATAGAATCCCTTTTTGGAC	0.423000													18	19					0	0	0.00152264	0	0
CRX	1406	broad.mit.edu	37	19	48343113	48343113	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:48343113C>T	ENST00000221996.7	+	4	995	c.789C>T	c.(787-789)ccC>ccT	p.P263P	TPRX2P_ENST00000535362.1_Intron|CRX_ENST00000539067.1_Silent_p.P263P	NM_000554.4	NP_000545.1	O43186	CRX_HUMAN	cone-rod homeobox	263					organ morphogenesis|response to stimulus|visual perception		leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P263P(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1)	23		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		CCTACAGCCCCGTGGATAGCT	0.617000													10	50					0	0	0.000673444	0	0
ZMAT1	84460	broad.mit.edu	37	X	101141652	101141652	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:101141652G>A	ENST00000458570.1	-	8	1374	c.44C>T	c.(43-45)tCt>tTt	p.S15F	ZMAT1_ENST00000540921.1_Missense_Mutation_p.S186F|ZMAT1_ENST00000494068.1_5'UTR|ZMAT1_ENST00000372782.3_Missense_Mutation_p.S186F			A7MD47	A7MD47_HUMAN	zinc finger, matrin-type 1	15						nucleus	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						CATATCTAAAGATGTAAAAGC	0.323000													9	15					0	0	0.000978159	0	0
FAM111A	63901	broad.mit.edu	37	11	58919785	58919785	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:58919785C>T	ENST00000528737.1	+	5	3462	c.644C>T	c.(643-645)gCt>gTt	p.A215V	FAM111A_ENST00000531147.1_Missense_Mutation_p.A215V|FAM111A_ENST00000361723.3_Missense_Mutation_p.A215V|FAM111A_ENST00000533703.1_Missense_Mutation_p.A215V|FAM111A_ENST00000420244.1_Missense_Mutation_p.A215V			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	215					proteolysis		serine-type endopeptidase activity	p.A215V(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				TGTGTTTATGCTTTCAAAGGA	0.388000													15	39					0	0	0.00316338	0	0
KRT35	3886	broad.mit.edu	37	17	39635090	39635090	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:39635090G>A	ENST00000246639.2	-	4	911	c.779C>T	c.(778-780)aCc>aTc	p.T260I	KRT35_ENST00000393989.1_Missense_Mutation_p.T290I			Q92764	KRT35_HUMAN	keratin 35	290	Linker 12.|Rod.				anatomical structure morphogenesis	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.000286)				ACCTACCTGGGTGTCCAACCA	0.537000													10	50					0	0	0.00136819	0	0
NDNF	79625	broad.mit.edu	37	4	121958645	121958645	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:121958645C>T	ENST00000379692.4	-	4	1007	c.481G>A	c.(481-483)Gta>Ata	p.V161I	NDNF_ENST00000506900.1_5'UTR	NM_024574.3	NP_078850.3	Q8TB73	CD031_HUMAN	neuron-derived neurotrophic factor	161										breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						GTGGCATATACTTTGAAATGT	0.438000													7	24					0	0	0.000274275	0	0
NELFE	7936	broad.mit.edu	37	6	31922531	31922531	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:31922531G>A	ENST00000375429.3	-	7	769	c.543C>T	c.(541-543)tcC>tcT	p.S181S	NELFE_ENST00000444811.2_Silent_p.S151S|NELFE_ENST00000375425.5_Silent_p.S188S	NM_002904.5	NP_002895.3			negative elongation factor complex member E																		TTCGGGGAGGGGAGGCTGAGG	0.647000													45	244					0	0	0.00361006	0	0
AMIGO2	347902	broad.mit.edu	37	12	47471829	47471829	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:47471829C>T	ENST00000266581.4	-	2	1423	c.957G>A	c.(955-957)acG>acA	p.T319T	AMIGO2_ENST00000429635.1_Silent_p.T319T|AMIGO2_ENST00000550413.1_Silent_p.T319T|AMIGO2_ENST00000321382.3_Silent_p.T319T	NM_181847.4	NP_862830.1	Q86SJ2	AMGO2_HUMAN	adhesion molecule with Ig-like domain 2	319	Ig-like C2-type.				heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane				endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Renal(347;0.138)|Lung SC(27;0.192)					AGATGAAATCCGTATTTGCAT	0.458000													21	123					0	0	0.00332997	0	0
CETN1	1068	broad.mit.edu	37	18	580874	580874	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:580874G>A	ENST00000327228.3	+	1	508	c.466G>A	c.(466-468)Gaa>Aaa	p.E156K		NM_004066.1	NP_004057.1	Q12798	CETN1_HUMAN	centrin, EF-hand protein, 1	156	EF-hand 4.				cell division|mitosis	spindle pole	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2)	25						TGGGGACGGCGAAGTGAACGA	0.537000													9	34					0	0	0.000442599	0	0
OR2B6	26212	broad.mit.edu	37	6	27925897	27925897	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:27925897G>A	ENST00000244623.1	+	1	879	c.879G>A	c.(877-879)agG>agA	p.R293R		NM_012367.1	NP_036499.1	P58173	OR2B6_HUMAN	olfactory receptor, family 2, subfamily B, member 6	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ATACACTTAGGAACAAGGAGG	0.393000													20	59					0	0	0.00188189	0	0
SGOL1	151648	broad.mit.edu	37	3	20215772	20215772	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:20215772C>T	ENST00000412997.1	-	6	1602	c.1251G>A	c.(1249-1251)acG>acA	p.T417T	SGOL1_ENST00000419233.2_Intron|SGOL1_ENST00000452020.1_Intron|SGOL1_ENST00000417364.1_Intron|SGOL1_ENST00000425061.1_Intron|SGOL1_ENST00000263753.4_Silent_p.T417T|SGOL1_ENST00000306698.2_Intron|SGOL1_ENST00000412868.1_Silent_p.T417T|SGOL1_ENST00000383774.1_Intron|SGOL1_ENST00000443724.1_Intron|SGOL1_ENST00000442720.1_Intron|SGOL1-AS1_ENST00000448208.1_RNA|SGOL1_ENST00000429446.3_Intron|SGOL1_ENST00000421451.1_Silent_p.T417T|SGOL1_ENST00000437051.1_Intron	NM_001199251.1	NP_001186180.1	Q5FBB7	SGOL1_HUMAN	shugoshin-like 1 (S. pombe)	417					attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase	centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole	protein binding			kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2)	14						TAGAACCCTCCGTCTCTTTTT	0.398000													16	71					0	0	0.00152264	0	0
HTR7	3363	broad.mit.edu	37	10	92509192	92509192	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:92509192G>A	ENST00000371721.3	-	2	941	c.699C>T	c.(697-699)atC>atT	p.I233I	HTR7_ENST00000371719.2_Silent_p.I233I|HTR7_ENST00000277874.6_Silent_p.I233I|HTR7_ENST00000336152.3_Silent_p.I233I			P34969	5HT7R_HUMAN	5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	233					blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)	AGTCCTGGCTGATCAAGCACA	0.468000													7	23					0	0	0.00198382	0	0
RASAL1	8437	broad.mit.edu	37	12	113543681	113543681	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:113543681G>A	ENST00000546530.1	-	17	1956	c.1671C>T	c.(1669-1671)gtC>gtT	p.V557V	RASAL1_ENST00000261729.5_Silent_p.V555V|RASAL1_ENST00000446861.3_Silent_p.V555V|RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000548055.1_Silent_p.V556V	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	555					intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						CCCTGGCTGGGACACCAGCTT	0.627000													14	49					0	0	0.00074312	0	0
OVGP1	5016	broad.mit.edu	37	1	111964220	111964220	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:111964220G>A	ENST00000369732.3	-	7	739	c.684C>T	c.(682-684)ccC>ccT	p.P228P	OVGP1_ENST00000540696.1_Intron|OVGP1_ENST00000481495.1_5'UTR	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	228					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		GAGAGAAGAGGGGGCTATTAT	0.488000													18	37					0	0	0.00121646	0	0
MUC3A	4584	broad.mit.edu	37	7	100552502	100552502	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:100552502G>A	ENST00000319509.7	+	1	1253	c.1253G>A	c.(1252-1254)cGa>cAa	p.R418Q						mucin 3A, cell surface associated											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						ACAAGTACTCGACTGCCCACC	0.532000													11	139					0	0	0.00185496	0	0
MAP3K19	80122	broad.mit.edu	37	2	135745582	135745582	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:135745582C>T	ENST00000375845.3	-	7	890	c.860G>A	c.(859-861)aGa>aAa	p.R287K	MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000392915.1_Missense_Mutation_p.R304K|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000358371.4_Missense_Mutation_p.R174K	NM_025052.3	NP_079328.3			mitogen-activated protein kinase kinase kinase 19																		GCACATGTTTCTTGACCAAAT	0.448000													10	71					0	0	0.00136819	0	0
AGL	178	broad.mit.edu	37	1	100327133	100327133	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:100327133C>T	ENST00000294724.4	+	3	635	c.157C>T	c.(157-159)Cct>Tct	p.P53S	AGL_ENST00000370163.3_Missense_Mutation_p.P53S|AGL_ENST00000370161.2_Missense_Mutation_p.P37S|AGL_ENST00000361302.3_Missense_Mutation_p.P37S|AGL_ENST00000370165.3_Missense_Mutation_p.P53S|AGL_ENST00000361915.3_Missense_Mutation_p.P53S|AGL_ENST00000361522.4_Missense_Mutation_p.P36S	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	53					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		TTACCCATTTCCTGGAGAAAC	0.348000													10	36					0	0	0.000442599	0	0
TYW1	55253	broad.mit.edu	37	7	66489955	66489955	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:66489955C>T	ENST00000359626.5	+	7	1094	c.930C>T	c.(928-930)tcC>tcT	p.S310S		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	310					tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity			breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				GCCTAAATTCCATTGTTGATG	0.423000													10	103					0	0	0.000673444	0	0
PPARA	5465	broad.mit.edu	37	22	46614225	46614225	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr22:46614225C>T	ENST00000396000.2	+	5	700	c.435C>T	c.(433-435)atC>atT	p.I145I	PPARA_ENST00000402126.1_Silent_p.I145I|PPARA_ENST00000434345.2_Silent_p.I145I|PPARA_ENST00000407236.1_Silent_p.I145I|PPARA_ENST00000262735.5_Silent_p.I145I			Q07869	PPARA_HUMAN	peroxisome proliferator-activated receptor alpha	145					fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fatty acid beta-oxidation|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|ubiquitin conjugating enzyme binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Simvastatin(DB00641)	GCTGCAAGATCCAGAAAAAGA	0.478000													33	49					0	0	0.00283554	0	0
COL11A2	1302	broad.mit.edu	37	6	33148078	33148078	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:33148078G>A	ENST00000341947.2	-	12	1543	c.1316C>T	c.(1315-1317)tCa>tTa	p.S439L	COL11A2_ENST00000374712.1_Missense_Mutation_p.S358L|COL11A2_ENST00000395197.1_Missense_Mutation_p.S379L|COL11A2_ENST00000361917.1_Missense_Mutation_p.S332L|COL11A2_ENST00000374708.4_Missense_Mutation_p.S353L|COL11A2_ENST00000374714.1_Missense_Mutation_p.S413L|COL11A2_ENST00000357486.1_Missense_Mutation_p.S418L|COL11A2_ENST00000374713.1_Missense_Mutation_p.S392L	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	439	Nonhelical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						AGCCCCATCTGATCCAGGGAG	0.527000													10	74					0	0	0.00185496	0	0
TAOK2	9344	broad.mit.edu	37	16	29994207	29994207	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:29994207C>T	ENST00000308893.4	+	11	2027	c.984C>T	c.(982-984)gcC>gcT	p.A328A	TAOK2_ENST00000416441.2_Silent_p.A155A|TAOK2_ENST00000279394.3_Silent_p.A328A|TAOK2_ENST00000543033.1_Silent_p.A328A	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	328					actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						GTGCCGAGGCCCCAGAGGAGG	0.612000													12	54					0	0	0.00136819	0	0
SLC7A6	9057	broad.mit.edu	37	16	68330310	68330310	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:68330310A>C	ENST00000566454.1	+	10	1432	c.1163A>C	c.(1162-1164)cAg>cCg	p.Q388P	SLC7A6_ENST00000219343.6_Missense_Mutation_p.Q388P	NM_001076785.2	NP_001070253.1	Q92536	YLAT2_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 6	388				Q -> R (in Ref. 3; CAH18146).	blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|antiporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	16		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.0948)		GATGTTTTCCAGCTTATCAAC	0.587000													4	54					0	0	0.000602214	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21015456	21015456	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:21015456G>A	ENST00000381545.3	+	7	811	c.592G>A	c.(592-594)Gat>Aat	p.D198N	LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.D198N|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.D198N|LST3_ENST00000540229.1_Missense_Mutation_p.D198N|SLCO1B7_ENST00000554957.1_Intron	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	198					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)					ATACATTGATGATTTTGCAAA	0.378000													11	36					0	0	0.000978159	0	0
TNKS	8658	broad.mit.edu	37	8	9592514	9592514	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:9592514G>C	ENST00000310430.6	+	16	2479	c.2453G>C	c.(2452-2454)aGa>aCa	p.R818T	TNKS_ENST00000518281.1_Missense_Mutation_p.R581T	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	818					mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		TGCCTGGCAAGAGTGCAGAAG	0.532000													9	38					0	0	0.00136819	0	0
ILKAP	80895	broad.mit.edu	37	2	239103470	239103470	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:239103470G>A	ENST00000254654.3	-	2	272	c.97C>T	c.(97-99)Cct>Tct	p.P33S	ILKAP_ENST00000490837.1_5'UTR	NM_030768.2	NP_110395.1	Q9H0C8	ILKAP_HUMAN	integrin-linked kinase-associated serine/threonine phosphatase	33						cytoplasm|protein serine/threonine phosphatase complex	metal ion binding|protein binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_lung(227;0.152)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;5.49e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.93e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.82e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00012)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0163)		CTGGCCGGAGGGAGGTCATCA	0.473000													23	25					0	0	0.000878237	0	0
SLC15A2	6565	broad.mit.edu	37	3	121616315	121616315	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:121616315C>T	ENST00000489711.1	+	3	662	c.274C>T	c.(274-276)Ctc>Ttc	p.L92F	SLC15A2_ENST00000295605.2_Missense_Mutation_p.L92F	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	92					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	CTTCAGCAGCCTCTGTTATTT	0.453000													16	62					0	0	0.00074312	0	0
DDX60L	91351	broad.mit.edu	37	4	169305892	169305892	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:169305892G>A	ENST00000511577.1	-	30	4234	c.3987C>T	c.(3985-3987)ccC>ccT	p.P1329P	DDX60L_ENST00000260184.7_Silent_p.P1329P			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	1329	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		TTTTTATTTTGGGCAATGGGA	0.473000													4	4					0	0	0.00024832	0	0
ARSG	22901	broad.mit.edu	37	17	66339817	66339817	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:66339817C>T	ENST00000448504.2	+	3	1087	c.291C>T	c.(289-291)ggC>ggT	p.G97G	ARSG_ENST00000452479.2_5'UTR	NM_014960.4	NP_055775.2	Q96EG1	ARSG_HUMAN	arylsulfatase G	97					sulfur compound metabolic process	endoplasmic reticulum|extracellular space|lysosome	arylsulfatase activity|metal ion binding			NS(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	26			BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			GCCGGCTTGGCCTTCGCAATG	0.612000													10	29					0	0	0.000442599	0	0
ZNF222	7673	broad.mit.edu	37	19	44536174	44536174	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:44536174C>T	ENST00000187879.8	+	4	509	c.347C>T	c.(346-348)cCt>cTt	p.P116L	ZNF223_ENST00000591793.1_Intron|ZNF222_ENST00000391960.3_Missense_Mutation_p.P156L	NM_013360.2	NP_037492.2	Q9UK12	ZN222_HUMAN	zinc finger protein 222	116					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20		Prostate(69;0.0435)				AGAGAAAAACCTTTCCAGGGT	0.388000													6	49					0	0	0.00116845	0	0
UBE3C	9690	broad.mit.edu	37	7	156963048	156963048	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:156963048C>T	ENST00000348165.5	+	4	606	c.246C>T	c.(244-246)tcC>tcT	p.S82S	UBE3C_ENST00000389103.4_Silent_p.S39S	NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	82					protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		TGTCACAGTCCGGGGGCGCTT	0.408000													22	176					0	0	0.00395357	0	0
HDAC9	9734	broad.mit.edu	37	7	18688140	18688140	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:18688140C>T	ENST00000406451.3	+	11	1442	c.1292C>T	c.(1291-1293)tCa>tTa	p.S431L	HDAC9_ENST00000406072.1_Missense_Mutation_p.S418L|HDAC9_ENST00000405010.3_Missense_Mutation_p.S431L|HDAC9_ENST00000524023.1_Missense_Mutation_p.S354L|HDAC9_ENST00000428307.2_Missense_Mutation_p.S387L|HDAC9_ENST00000456174.2_Missense_Mutation_p.S403L|HDAC9_ENST00000417496.2_Missense_Mutation_p.S429L|HDAC9_ENST00000441542.2_Missense_Mutation_p.S434L|HDAC9_ENST00000401921.1_Missense_Mutation_p.S390L|HDAC9_ENST00000432645.2_Missense_Mutation_p.S431L	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	431					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	GAGAGAATTTCACCTGGCATT	0.473000													9	27					0	0	0.000673444	0	0
SLAMF8	56833	broad.mit.edu	37	1	159799820	159799820	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:159799820G>A	ENST00000289707.5	+	2	354	c.205G>A	c.(205-207)Gag>Aag	p.E69K	SLAMF8_ENST00000471286.1_3'UTR|SLAMF8_ENST00000368104.4_Intron	NM_020125.2	NP_064510.1	Q9P0V8	SLAF8_HUMAN	SLAM family member 8	69						integral to membrane				endometrium(2)|large_intestine(4)|lung(6)	12	all_hematologic(112;0.0597)					AGGCTCCCTGGAGACTCTGTA	0.632000													30	62					0	0	0.0024448	0	0
ZC3H13	23091	broad.mit.edu	37	13	46559534	46559534	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr13:46559534G>A	ENST00000242848.4	-	10	1966	c.1618C>T	c.(1618-1620)Cgt>Tgt	p.R540C	ZC3H13_ENST00000282007.3_Missense_Mutation_p.R540C			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	540	Arg/Ser-rich.						nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		ATTTCCGTACGAGAACTTTCT	0.458000													17	54					0	0	0.00152264	0	0
BRINP2	57795	broad.mit.edu	37	1	177226508	177226508	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:177226508G>A	ENST00000361539.4	+	4	969	c.657G>A	c.(655-657)acG>acA	p.T219T	FAM5B_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		219						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						AGATAGCCACGGGGGCCATCA	0.612000													5	10					0	0	0.000602214	0	0
RBMXL2	27288	broad.mit.edu	37	11	7110384	7110384	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:7110384C>T	ENST00000306904.5	+	1	220	c.33C>T	c.(31-33)ttC>ttT	p.F11F		NM_014469.4	NP_055284.3	O75526	HNRGT_HUMAN	RNA binding motif protein, X-linked-like 2	11	RRM.					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding	p.F11F(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GGAAGCTGTTCATTGGGGGCC	0.617000													6	11					0	0	0.00307968	0	0
AAAS	8086	broad.mit.edu	37	12	53709514	53709514	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:53709514C>T	ENST00000209873.4	-	3	469	c.304G>A	c.(304-306)Gag>Aag	p.E102K	AAAS_ENST00000550286.1_Silent_p.K8K|AAAS_ENST00000394384.3_Missense_Mutation_p.E102K|AAAS_ENST00000549983.1_5'UTR	NM_015665.5	NP_056480.1	Q9NRG9	AAAS_HUMAN	achalasia, adrenocortical insufficiency, alacrimia	102					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						TACTTACCCTCTTCTTCTGAG	0.473000													5	21					0	0	0.00198382	0	0
FAM83B	222584	broad.mit.edu	37	6	54805944	54805944	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:54805944C>T	ENST00000306858.7	+	5	2291	c.2175C>T	c.(2173-2175)acC>acT	p.T725T		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	725										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)					AGGAAGTTACCAAGAGAAACT	0.393000													6	36					0	0	0.00307968	0	0
KLK1	3816	broad.mit.edu	37	19	51323257	51323257	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:51323257G>A	ENST00000448701.2	-	5	1549	c.225C>T	c.(223-225)ctC>ctT	p.L75L	KLK1_ENST00000301420.2_Silent_p.L177L			P06870	KLK1_HUMAN	kallikrein 1	177	Peptidase S1.				proteolysis	nucleus	serine-type endopeptidase activity			breast(1)|large_intestine(4)|lung(7)|urinary_tract(1)	13		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCAGGATTTTGAGGTCCACAC	0.537000													7	22					0	0	0.00198382	0	0
OR9G4	283189	broad.mit.edu	37	11	56511255	56511255	+	Silent	SNP	G	G	A	rs61735257	byFrequency	TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:56511255G>A	ENST00000302957.3	-	1	32	c.33C>T	c.(31-33)ttC>ttT	p.F11F		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	11					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						CCACGGAGGTGAAAGCCTGAC	0.413000													27	50					0	0	0.0024448	0	0
SEMA4D	10507	broad.mit.edu	37	9	92006203	92006203	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:92006203G>A	ENST00000450295.1	-	9	1526	c.750C>T	c.(748-750)atC>atT	p.I250I	SEMA4D_ENST00000356444.2_Silent_p.I250I|SEMA4D_ENST00000455551.2_Silent_p.I250I|SEMA4D_ENST00000420987.1_Silent_p.I250I|SEMA4D_ENST00000438547.2_Silent_p.I250I|SEMA4D_ENST00000339861.4_Silent_p.I250I|SEMA4D_ENST00000343780.4_Silent_p.I250I|SEMA4D_ENST00000422704.2_Silent_p.I250I			Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	250	Sema.				anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						CTATCCGTGGGATCAGCACCC	0.572000													7	31					0	0	0.000442599	0	0
COMMD1	150684	broad.mit.edu	37	2	62132934	62132934	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:62132934C>T	ENST00000311832.5	+	1	153	c.121C>T	c.(121-123)Cca>Tca	p.P41S	COMMD1_ENST00000472729.1_Intron|COMMD1_ENST00000538736.1_Missense_Mutation_p.P41S	NM_152516.2	NP_689729.1	Q8N668	COMD1_HUMAN	copper metabolism (Murr1) domain containing 1	41					copper ion homeostasis|negative regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|regulation of proteasomal ubiquitin-dependent protein catabolic process	cell junction|Cul2-RING ubiquitin ligase complex|cytoplasm|nucleolus	copper ion binding|protein homodimerization activity			large_intestine(1)|liver(2)|lung(5)|ovary(1)	9	Lung NSC(7;0.035)|all_lung(7;0.0691)		LUSC - Lung squamous cell carcinoma(7;4.73e-07)|Epithelial(17;0.0216)|all cancers(80;0.0934)			CCAGCTATATCCAGAGGTGCC	0.597000													6	42					0	0	0.00198382	0	0
ABCA12	26154	broad.mit.edu	37	2	215882755	215882755	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:215882755G>A	ENST00000272895.7	-	14	1978	c.1759C>T	c.(1759-1761)Ccc>Tcc	p.P587S	ABCA12_ENST00000389661.4_Missense_Mutation_p.P269S	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	587					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		tcagggatgggaatggccagc	0.383000													21	21					0	0	0.00229938	0	0
KCTD8	386617	broad.mit.edu	37	4	44176909	44176909	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:44176909C>T	ENST00000360029.3	-	2	1603	c.1320G>A	c.(1318-1320)atG>atA	p.M440I		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	440						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						TACACTTTTTCATTTCTTCTT	0.398000										HNSCC(17;0.042)			25	93					0	0	0.00278032	0	0
OR51A7	119687	broad.mit.edu	37	11	4928635	4928635	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:4928635C>T	ENST00000359350.4	+	1	36	c.36C>T	c.(34-36)ttC>ttT	p.F12F	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004749.1	NP_001004749.1	Q8NH64	O51A7_HUMAN	olfactory receptor, family 51, subfamily A, member 7	12					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCAAGCTTTTCCTTCTGATTG	0.458000													6	21					0	0	0.00116845	0	0
PREX2	80243	broad.mit.edu	37	8	68939498	68939498	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:68939498C>T	ENST00000288368.4	+	5	760	c.483C>T	c.(481-483)ccC>ccT	p.P161P	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	161	DH.				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						CAGATGTTCCCTTGGAAGGAT	0.353000													6	59					0	0	0.00116845	0	0
MSR1	4481	broad.mit.edu	37	8	15998534	15998534	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:15998534G>A	ENST00000381998.4	-	9	1119	c.1054C>T	c.(1054-1056)Cat>Tat	p.H352Y	MSR1_ENST00000445506.2_Intron|MSR1_ENST00000355282.2_Intron|MSR1_ENST00000536385.1_Missense_Mutation_p.H126Y|MSR1_ENST00000262101.5_Intron|MSR1_ENST00000350896.3_Intron	NM_002445.3	NP_002436.1	P21757	MSRE_HUMAN	macrophage scavenger receptor 1	0	SRCR.				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		GCCCTAATATGATCAGTGAGT	0.403000													7	30					0	0	0.000274275	0	0
PCNXL2	80003	broad.mit.edu	37	1	233136215	233136215	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:233136215C>T	ENST00000258229.8	-	30	5398	c.5164G>A	c.(5164-5166)Gag>Aag	p.E1722K	PCNXL2_ENST00000344698.2_Missense_Mutation_p.E374K	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1722						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				ACCTTCTTCTCGAAGGACTGG	0.622000													6	9					0	0	0.00116845	0	0
NLRP10	338322	broad.mit.edu	37	11	7981217	7981217	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:7981217C>T	ENST00000328600.2	-	2	2103	c.1942G>A	c.(1942-1944)Gaa>Aaa	p.E648K		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	648							ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TTTGGTGTTTCCTCTGTCCCT	0.378000													13	43					0	0	0.00244969	0	0
DCAF8L1	139425	broad.mit.edu	37	X	27997684	27997684	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:27997684C>T	ENST00000441525.1	-	1	1882	c.1768G>A	c.(1768-1770)Gag>Aag	p.E590K		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	590										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						TCTTGGCCCTCCTCCTCGGAT	0.498000													6	29					0	0	0.00116845	0	0
DMBT1	1755	broad.mit.edu	37	10	124399741	124399741	+	Silent	SNP	A	A	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:124399741A>G	ENST00000338354.3	+	52	6847	c.6741A>G	c.(6739-6741)gaA>gaG	p.E2247E	DMBT1_ENST00000368956.2_Silent_p.E1619E|DMBT1_ENST00000368955.3_Silent_p.E2237E|DMBT1_ENST00000359586.6_Silent_p.E967E|DMBT1_ENST00000330163.4_Silent_p.E1619E|DMBT1_ENST00000344338.3_Silent_p.E2237E|DMBT1_ENST00000368909.3_Silent_p.E2247E			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2247	ZP.				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			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)				AGGTCGAGGAAGTCCAGTATG	0.473000													5	91					0	0	0.000602214	0	0
DNAH9	1770	broad.mit.edu	37	17	11604564	11604564	+	Splice_Site	SNP	G	G	A	rs55888525		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:11604564G>A	ENST00000262442.3	+	24	5219	c.5151_splice	c.e24+1	p.Q1717_splice	DNAH9_ENST00000454412.2_Splice_Site_p.Q1717_splice	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1717	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ACCCAGCTCAGGTATTCTCCT	0.547000													9	38					0	0	0.000274275	0	0
OPHN1	4983	broad.mit.edu	37	X	67316726	67316726	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:67316726C>T	ENST00000355520.5	-	19	2313	c.1672G>A	c.(1672-1674)Gag>Aag	p.E558K	OPHN1_ENST00000540071.1_Missense_Mutation_p.E558K|OPHN1_ENST00000484842.1_5'UTR	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1	558	Rho-GAP.				axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						CCAAAGTGCTCGATTAGTATT	0.473000													8	34					0	0	0.00307968	0	0
MYBPC2	4606	broad.mit.edu	37	19	50962496	50962496	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:50962496G>A	ENST00000357701.5	+	23	2775	c.2724G>A	c.(2722-2724)ggG>ggA	p.G908G		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	908	Ig-like C2-type 6.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		CCGACTCCGGGGAGTACGAGC	0.711000													7	5					0	0	0.000673444	0	0
SPATA4	132851	broad.mit.edu	37	4	177113961	177113961	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:177113961C>T	ENST00000280191.2	-	4	613	c.505G>A	c.(505-507)Gac>Aac	p.D169N	SPATA4_ENST00000515234.1_5'UTR	NM_144644.2	NP_653245.2	Q8NEY3	SPAT4_HUMAN	spermatogenesis associated 4	169					apoptosis|spermatogenesis					NS(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)	22		Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124)		all cancers(43;2.9e-20)|Epithelial(43;1.99e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.58e-09)|GBM - Glioblastoma multiforme(59;0.000162)|STAD - Stomach adenocarcinoma(60;0.000543)|LUSC - Lung squamous cell carcinoma(193;0.096)		TAGCTATAGTCCGTGAAATTC	0.328000													13	24					0	0	0.00244969	0	0
GPR158	57512	broad.mit.edu	37	10	25886961	25886961	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:25886961C>T	ENST00000376351.3	+	11	2765	c.2406C>T	c.(2404-2406)tcC>tcT	p.S802S	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	802						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						CAGGGAAATCCAAGGAGGAGA	0.542000													5	7					0	0	0.000602214	0	0
SLFN11	91607	broad.mit.edu	37	17	33687286	33687286	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:33687286C>T	ENST00000394566.1	-	5	1446	c.1174G>A	c.(1174-1176)Gaa>Aaa	p.E392K	SLFN11_ENST00000308377.4_Missense_Mutation_p.E392K	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	392						nucleus	ATP binding			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TGCTGGAGTTCCTTTTTATGT	0.383000													5	45					0	0	0.000602214	0	0
COL12A1	1303	broad.mit.edu	37	6	75904613	75904613	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:75904613G>A	ENST00000322507.8	-	3	433	c.124C>T	c.(124-126)Cat>Tat	p.H42Y	COL12A1_ENST00000483888.2_Missense_Mutation_p.H42Y|COL12A1_ENST00000416123.2_Missense_Mutation_p.H42Y|COL12A1_ENST00000345356.6_Intron	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	42	Fibronectin type-III 1.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CATGACATATGAACAGTATTT	0.368000													14	39					0	0	0.000566183	0	0
GRIA4	2893	broad.mit.edu	37	11	105850360	105850360	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:105850360G>A	ENST00000282499.5	+	17	3049	c.2603G>A	c.(2602-2604)gGa>gAa	p.G868E	GRIA4_ENST00000530497.1_Missense_Mutation_p.G868E|GRIA4_ENST00000393127.2_3'UTR|GRIA4_ENST00000533094.1_3'UTR|GRIA4_ENST00000525187.1_3'UTR	NM_000829.3	NP_000820.3	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	868					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)	GGGAGTGTGGGAGAGAATGGC	0.498000													10	43					0	0	0.000442599	0	0
CORO1B	57175	broad.mit.edu	37	11	67207678	67207678	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:67207678G>A	ENST00000393893.1	-	9	1021	c.918C>T	c.(916-918)ttC>ttT	p.F306F	CORO1B_ENST00000341356.5_Silent_p.F306F	NM_001018070.2	NP_001018080.1	Q9BR76	COR1B_HUMAN	coronin, actin binding protein, 1B	306					actin cytoskeleton organization	actin cytoskeleton|cytoplasm	actin filament binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			ACGTGTTCAGGAAGTGGATGT	0.632000													10	23					0	0	0.000978159	0	0
MEPE	56955	broad.mit.edu	37	4	88766817	88766817	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:88766817C>T	ENST00000497649.2	+	6	1103	c.725C>T	c.(724-726)cCt>cTt	p.P242L	MEPE_ENST00000424957.3_Missense_Mutation_p.P266L|MEPE_ENST00000560249.1_Missense_Mutation_p.P153L|MEPE_ENST00000395102.4_Missense_Mutation_p.P297L|MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000540395.1_Missense_Mutation_p.P153L|MEPE_ENST00000361056.3_Missense_Mutation_p.P266L			Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	266					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		AAGGACATTCCTGGTAAAGGA	0.458000													6	24					0	0	0.00116845	0	0
PCDHGB4	8641	broad.mit.edu	37	5	140768882	140768882	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:140768882G>A	ENST00000519479.1	+	1	1431	c.1431G>A	c.(1429-1431)ccG>ccA	p.P477P	PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1														endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCTGATCCGGACTTGGGGC	0.572000													19	43					0	0	0.00229938	0	0
CELSR3	1951	broad.mit.edu	37	3	48699263	48699263	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:48699263G>T	ENST00000544264.1	-	1	1085	c.805C>A	c.(805-807)Ccc>Acc	p.P269T	CELSR3_ENST00000164024.4_Missense_Mutation_p.P269T			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	269					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GCCGGCTCGGGAGCTGTCCGA	0.741000													9	22					0.000673444	0.00194743	0.000673444	1	0
COL5A1	1289	broad.mit.edu	37	9	137622280	137622280	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:137622280G>A	ENST00000371817.3	+	7	1537	c.1123G>A	c.(1123-1125)Gaa>Aaa	p.E375K		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	375	Nonhelical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CGCTGGGGCCGAAATTCCCAC	0.617000													10	8					0	0	0.000673444	0	0
LRRC37B	114659	broad.mit.edu	37	17	30348289	30348289	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:30348289C>T	ENST00000327564.7	+	1	266	c.205C>T	c.(205-207)Ctg>Ttg	p.L69L	LRRC37B_ENST00000394713.3_Silent_p.L42L|LRRC37B_ENST00000543378.2_Intron|LRRC37B_ENST00000584368.1_Silent_p.L54L|LRRC37B_ENST00000341671.7_Silent_p.L42L			Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	42						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				CTCTAACCCCCTGGGGCCACC	0.617000													4	39					0	0	0.000602214	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121651176	121651176	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:121651176C>T	ENST00000393386.2	+	12	2487	c.2076C>T	c.(2074-2076)tcC>tcT	p.S692S	PTPRZ1_ENST00000449182.1_Silent_p.S692S	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	692					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						CAACCAAGTCCTTTTCTGCAG	0.468000													4	34					0	0	0.000602214	0	0
CSMD3	114788	broad.mit.edu	37	8	113326806	113326806	+	Silent	SNP	T	T	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:113326806T>G	ENST00000297405.5	-	48	7645	c.7401A>C	c.(7399-7401)ggA>ggC	p.G2467G	CSMD3_ENST00000343508.3_Silent_p.G2427G|CSMD3_ENST00000455883.2_Silent_p.G2363G|CSMD3_ENST00000352409.3_Silent_p.G2397G	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2467	CUB 14.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TCAATATGACTCCAGTAGAAT	0.393000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			6	33					0	0	0.00198382	0	0
TRPV4	59341	broad.mit.edu	37	12	110226501	110226501	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:110226501G>A	ENST00000418703.2	-	12	2006	c.1912C>T	c.(1912-1914)Ccg>Tcg	p.P638S	TRPV4_ENST00000544971.1_Missense_Mutation_p.P531S|TRPV4_ENST00000541794.1_Missense_Mutation_p.P591S|TRPV4_ENST00000537083.1_Missense_Mutation_p.P578S|TRPV4_ENST00000536838.1_Missense_Mutation_p.P604S|TRPV4_ENST00000392719.2_Missense_Mutation_p.P591S|TRPV4_ENST00000346520.2_Missense_Mutation_p.P578S|TRPV4_ENST00000261740.2_Missense_Mutation_p.P638S	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	638					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						TTGGCACACGGGTTCAGGAGG	0.582000													5	32					0	0	0.00116845	0	0
IL1B	3553	broad.mit.edu	37	2	113588049	113588049	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:113588049G>A	ENST00000263341.2	-	7	909	c.699C>T	c.(697-699)ttC>ttT	p.F233F	IL1B_ENST00000491056.1_5'UTR	NM_000576.2	NP_000567.1	P01584	IL1B_HUMAN	interleukin 1, beta	233					activation of MAPK activity|anti-apoptosis|apoptosis|cell-cell signaling|cellular response to drug|cellular response to mechanical stimulus|cytokine-mediated signaling pathway|embryo implantation|fever generation|negative regulation of adiponectin secretion|negative regulation of cell proliferation|negative regulation of glucose transport|negative regulation of insulin receptor signaling pathway|negative regulation of lipid catabolic process|negative regulation of MAP kinase activity|positive regulation of angiogenesis|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of cell adhesion molecule production|positive regulation of cell division|positive regulation of fever generation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of heterotypic cell-cell adhesion|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of interferon-gamma production|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of lipid catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mitosis|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myosin light chain kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|positive regulation of protein export from nucleus|positive regulation of T cell proliferation|positive regulation vascular endothelial growth factor production|regulation of insulin secretion|sequestering of triglyceride|smooth muscle adaptation	cytosol|extracellular space	cytokine activity|growth factor activity|interleukin-1 receptor binding|protein domain specific binding			breast(2)|central_nervous_system(1)|large_intestine(1)|lung(8)	12					Anakinra(DB00026)|Minocycline(DB01017)|Procaterol(DB01366)	ACCAGTTGGGGAACTGGGCAG	0.448000													25	43					0	0	0.00395357	0	0
PGD	5226	broad.mit.edu	37	1	10468171	10468171	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:10468171G>A	ENST00000538557.1	+	6	698	c.454G>A	c.(454-456)Gga>Aga	p.G152R	PGD_ENST00000541529.1_Missense_Mutation_p.G143R|PGD_ENST00000270776.8_Missense_Mutation_p.G165R			P52209	6PGD_HUMAN	phosphogluconate dehydrogenase	165					pentose-phosphate shunt, oxidative branch	cytosol	NADP binding|phosphogluconate dehydrogenase (decarboxylating) activity|protein binding			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	14	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487)		TGCAAAAGTGGGAACTGGAGA	0.498000													25	78					0	0	0.001512	0	0
OR52L1	338751	broad.mit.edu	37	11	6007457	6007457	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:6007457G>A	ENST00000332249.4	-	1	758	c.704C>T	c.(703-705)tCc>tTc	p.S235F		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, member 1	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTGGGCATAGGAAACACCAAT	0.517000													10	46					0	0	0.000673444	0	0
VN1R2	317701	broad.mit.edu	37	19	53761937	53761937	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:53761937G>A	ENST00000341702.3	+	1	393	c.309G>A	c.(307-309)ggG>ggA	p.G103G		NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	103					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		GAATCCTGGGGAATTTTTCAC	0.438000													10	15					0	0	0.000673444	0	0
FBXO15	201456	broad.mit.edu	37	18	71740773	71740773	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:71740773C>T	ENST00000269500.5	-	10	1563	c.1228G>A	c.(1228-1230)Gaa>Aaa	p.E410K	FBXO15_ENST00000419743.2_Missense_Mutation_p.E486K|FBXO15_ENST00000580806.1_5'UTR	NM_152676.2	NP_689889.1	Q8NCQ5	FBX15_HUMAN	F-box protein 15	410										autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		AGGTATTCTTCGGTCTCTCTG	0.453000													30	140					0	0	0.000953801	0	0
TENM4	26011	broad.mit.edu	37	11	78423526	78423526	+	Splice_Site	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:78423526C>T	ENST00000278550.7	-	26	4517		c.e26+1			NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		CAAGGCCTTACCCCTGGGATT	0.463000													11	34					0	0	0.000673444	0	0
STX4	6810	broad.mit.edu	37	16	31049834	31049834	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:31049834C>T	ENST00000394998.1	+	9	905	c.562C>T	c.(562-564)Ctg>Ttg	p.L188L	STX4_ENST00000493902.1_3'UTR|STX4_ENST00000313843.3_Silent_p.L190L	NM_001272096.1	NP_001259025.1	Q12846	STX4_HUMAN	syntaxin 4	190	Interaction with CENPF (By similarity).				intracellular protein transport|platelet activation|post-Golgi vesicle-mediated transport	basolateral plasma membrane|cell surface|cytosol|integral to membrane|plasma membrane enriched fraction|specific granule|vacuole	SNAP receptor activity			NS(2)|breast(1)|large_intestine(3)|lung(3)	9						CCCCCAGATCCTGAAGGACAC	0.577000													7	28					0	0	0.000442599	0	0
MDN1	23195	broad.mit.edu	37	6	90411664	90411664	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:90411664C>T	ENST00000369393.3	-	54	8380	c.8265G>A	c.(8263-8265)ctG>ctA	p.L2755L	MDN1_ENST00000428876.1_Silent_p.L2755L			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	2755					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TCTGGTGGACCAGATGTTTTA	0.453000													19	28					0	0	0.00278032	0	0
NEB	4703	broad.mit.edu	37	2	152548448	152548448	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:152548448C>T	ENST00000397345.3	-	23	2343	c.2141G>A	c.(2140-2142)gGa>gAa	p.G714E	NEB_ENST00000172853.10_Missense_Mutation_p.G714E|NEB_ENST00000604864.1_Missense_Mutation_p.G714E|NEB_ENST00000409198.1_Missense_Mutation_p.G714E|NEB_ENST00000427231.2_Missense_Mutation_p.G714E|NEB_ENST00000603639.1_Missense_Mutation_p.G714E	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	714					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ATAGCATTTTCCTTTATCTTC	0.338000													10	12					0	0	0.00136819	0	0
COBLL1	22837	broad.mit.edu	37	2	165551016	165551016	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:165551016C>T	ENST00000375458.2	-	11	3107	c.2886G>A	c.(2884-2886)caG>caA	p.Q962Q	COBLL1_ENST00000392717.2_Silent_p.Q1038Q|COBLL1_ENST00000194871.6_Silent_p.Q1067Q|COBLL1_ENST00000342193.4_Silent_p.Q1000Q|COBLL1_ENST00000409184.3_Silent_p.Q1000Q	NM_001278460.1|NM_001278461.1	NP_001265389.1|NP_001265390.1	Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	1038										central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						GTGTGGATACCTGACTAGCAG	0.473000													11	40					0	0	0.00400662	0	0
FUT9	10690	broad.mit.edu	37	6	96651086	96651086	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:96651086C>T	ENST00000302103.5	+	3	381	c.55C>T	c.(55-57)Ctg>Ttg	p.L19L		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	19					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		CTGCATTATCCTGGGCTGTTT	0.413000													7	21					0	0	0.00198382	0	0
ANO2	57101	broad.mit.edu	37	12	5744470	5744470	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:5744470C>T	ENST00000356134.5	-	18	1738	c.1667G>A	c.(1666-1668)cGa>cAa	p.R556Q	ANO2_ENST00000546188.1_Missense_Mutation_p.R556Q|ANO2_ENST00000327087.8_Missense_Mutation_p.R555Q	NM_001278596.1|NM_001278597.1	NP_001265525.1|NP_001265526.1	Q9NQ90	ANO2_HUMAN	anoctamin 2	560						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						AGTTGTTATTCGATACACTAT	0.488000													5	19					0	0	0.00198382	0	0
EIF4E3	317649	broad.mit.edu	37	3	71743062	71743062	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:71743062T>C	ENST00000448225.1	-	6	574	c.118A>G	c.(118-120)Acc>Gcc	p.T40A	EIF4E3_ENST00000425534.2_Missense_Mutation_p.T146A|EIF4E3_ENST00000389826.3_Missense_Mutation_p.T40A|EIF4E3_ENST00000468147.1_5'UTR|EIF4E3_ENST00000421769.2_Missense_Mutation_p.T40A|EIF4E3_ENST00000295612.3_Missense_Mutation_p.T40A	NM_001134649.1	NP_001128121.1	Q8N5X7	IF4E3_HUMAN	eukaryotic translation initiation factor 4E family member 3	146					regulation of translation	cytoplasm|mRNA cap binding complex	translation initiation factor activity			large_intestine(1)|lung(3)	4		Prostate(10;0.0166)		BRCA - Breast invasive adenocarcinoma(55;2.56e-05)|Epithelial(33;2.9e-05)|Lung(16;9.28e-05)|LUSC - Lung squamous cell carcinoma(21;0.00227)		TCCCCGATGGTTGCTAACAGC	0.473000													4	12					0	0	0.000602214	0	0
TSPAN2	10100	broad.mit.edu	37	1	115615569	115615569	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:115615569C>T	ENST00000369516.2	-	2	160	c.129G>A	c.(127-129)aaG>aaA	p.K43K	TSPAN2_ENST00000369514.2_Silent_p.K43K|TSPAN2_ENST00000369515.2_Silent_p.K43K	NM_005725.4	NP_005716.2	O60636	TSN2_HUMAN	tetraspanin 2	43						integral to membrane				central_nervous_system(1)|large_intestine(4)|lung(3)|pancreas(1)|prostate(1)	10	Lung SC(450;0.211)	all_cancers(81;2.9e-07)|all_epithelial(167;1.42e-06)|all_lung(203;6.72e-06)|Lung NSC(69;1.13e-05)|Acute lymphoblastic leukemia(138;0.191)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)		ATGATAACTCCTTTATGGCAC	0.507000													11	41					0	0	0.00185496	0	0
TFAP2B	7021	broad.mit.edu	37	6	50803776	50803776	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:50803776C>T	ENST00000263046.4	+	5	797	c.631C>T	c.(631-633)Cca>Tca	p.P211S	TFAP2B_ENST00000393655.3_Missense_Mutation_p.P202S			Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	202					nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					CTTTCTAGTTCCAGTTCCTCC	0.493000													18	147					0	0	0.000958276	0	0
SF3B1	23451	broad.mit.edu	37	2	198266186	198266186	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:198266186G>A	ENST00000335508.5	-	17	2525	c.2434C>T	c.(2434-2436)Cct>Tct	p.P812S		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	812					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			AAAAAGGGAGGAAGAATCTCT	0.348000			Mis		myelodysplastic syndrome								23	55					0	0	0.00278032	0	0
MLXIPL	51085	broad.mit.edu	37	7	73013920	73013920	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:73013920A>T	ENST00000313375.3	-	8	1054	c.1007T>A	c.(1006-1008)cTg>cAg	p.L336Q	MLXIPL_ENST00000354613.1_Missense_Mutation_p.L336Q|MLXIPL_ENST00000395189.1_Missense_Mutation_p.L243Q|MLXIPL_ENST00000434326.1_Missense_Mutation_p.L243Q|MLXIPL_ENST00000414749.2_Missense_Mutation_p.L336Q|MLXIPL_ENST00000429400.2_Missense_Mutation_p.L336Q	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	WBS14_HUMAN	MLX interacting protein-like	336					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)				CTCTGGGCCCAGGGTCCCACT	0.657000													10	58					0	0	0.000673444	0	0
TCF12	6938	broad.mit.edu	37	15	57384057	57384057	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:57384057C>T	ENST00000267811.5	+	5	597	c.293C>T	c.(292-294)tCc>tTc	p.S98F	TCF12_ENST00000557843.1_Missense_Mutation_p.S98F|TCF12_ENST00000438423.2_Missense_Mutation_p.S98F|TCF12_ENST00000333725.5_Missense_Mutation_p.S98F|TCF12_ENST00000452095.2_Missense_Mutation_p.S94F	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	98					immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		GAAGGCTTGTCCCCAACACCT	0.413000			T	TEC	extraskeletal myxoid chondrosarcoma								10	42					0	0	0.00136819	0	0
CCDC144A	9720	broad.mit.edu	37	17	16593942	16593942	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:16593942C>T	ENST00000443444.2	+	1	368	c.228C>T	c.(226-228)gtC>gtT	p.V76V	CCDC144A_ENST00000399273.1_Silent_p.V76V|CCDC144A_ENST00000456009.1_Silent_p.V76V|RP11-219A15.1_ENST00000448331.3_Silent_p.V76V|CCDC144A_ENST00000436374.1_3'UTR|CCDC144A_ENST00000360524.8_Silent_p.V76V|CCDC144A_ENST00000340621.5_Silent_p.V76V			A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	76																	AGCACGACGTCCGCCTGGAAG	0.642000													22	37					0	0	0.000878237	0	0
PCDHGA12	26025	broad.mit.edu	37	5	140890536	140890536	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:140890536C>T	ENST00000252085.3	+	4	2737	c.2595C>T	c.(2593-2595)acC>acT	p.T865T	PCDHGA6_ENST00000517434.1_Silent_p.T865T|PCDHGA2_ENST00000394576.2_Silent_p.T865T|PCDHGB6_ENST00000520790.1_Silent_p.T863T|PCDHGA9_ENST00000573521.1_Silent_p.T865T|PCDHGA3_ENST00000253812.6_Silent_p.T865T|PCDHGC5_ENST00000252087.1_Silent_p.T877T|PCDHGA11_ENST00000518882.1_Silent_p.T683T|PCDHGA11_ENST00000398587.2_Silent_p.T868T|PCDHGB1_ENST00000523390.1_Silent_p.T860T|PCDHGC3_ENST00000308177.3_Silent_p.T867T|PCDHGA10_ENST00000398610.2_Silent_p.T869T|PCDHGC4_ENST00000306593.1_Silent_p.T871T|PCDHGB3_ENST00000576222.1_Silent_p.T862T|PCDHGB7_ENST00000398594.2_Silent_p.T862T|PCDHGA4_ENST00000571252.1_Silent_p.T864T|PCDHGA7_ENST00000518325.1_Silent_p.T865T|PCDHGB2_ENST00000522605.1_Silent_p.T864T|PCDHGA5_ENST00000518069.1_Silent_p.T864T|PCDHGB4_ENST00000519479.1_Silent_p.T856T|PCDHGA8_ENST00000398604.2_Silent_p.T865T|PCDHGA1_ENST00000517417.1_Silent_p.T864T	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1														breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGCTCCACCCTGGGAGGGG	0.587000													17	79					0	0	0.00229938	0	0
EPB41L3	23136	broad.mit.edu	37	18	5433499	5433499	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:5433499G>A	ENST00000341928.2	-	8	1221	c.881C>T	c.(880-882)tCa>tTa	p.S294L	EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000544123.1_Missense_Mutation_p.S294L|EPB41L3_ENST00000400111.3_Missense_Mutation_p.S294L|EPB41L3_ENST00000342933.3_Missense_Mutation_p.S294L|EPB41L3_ENST00000540638.2_Missense_Mutation_p.S294L	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	294	FERM.				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						CCCATACATTGATAATTTTTT	0.333000													5	36					0	0	0.00116845	0	0
ANKRD30B	374860	broad.mit.edu	37	18	14851614	14851614	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:14851614A>C	ENST00000358984.4	+	36	3494	c.3314A>C	c.(3313-3315)cAc>cCc	p.H1105P		NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	1190										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						AAACATCAACACCAGGTGAAG	0.338000													9	25					0	0	0.000274275	0	0
TXLNB	167838	broad.mit.edu	37	6	139609972	139609972	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:139609972G>A	ENST00000358430.3	-	2	297	c.65C>T	c.(64-66)tCa>tTa	p.S22L		NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	22						cytoplasm				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		GGGTAATGATGAACTGTCACC	0.517000													10	42					0	0	0.000673444	0	0
MAGEB1	4112	broad.mit.edu	37	X	30269510	30269510	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:30269510C>T	ENST00000378981.3	+	4	1221	c.900C>T	c.(898-900)ttC>ttT	p.F300F	MAGEB1_ENST00000397548.2_Silent_p.F300F|MAGEB1_ENST00000397550.1_Silent_p.F300F	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	300	MAGE.									NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						CCCGTGACTTCCCATCCCATT	0.512000													15	35					0	0	0.00074312	0	0
CANT1	124583	broad.mit.edu	37	17	76993341	76993341	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:76993341C>T	ENST00000302345.2	-	2	858	c.364G>A	c.(364-366)Gaa>Aaa	p.E122K	CANT1_ENST00000392446.5_Missense_Mutation_p.E122K|CANT1_ENST00000591773.1_Missense_Mutation_p.E122K	NM_001159773.1|NM_138793.3	NP_001153245.1|NP_620148.1	Q8WVQ1	CANT1_HUMAN	calcium activated nucleotidase 1	122					positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to membrane	calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity		CANT1/ETV4(3)	cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			CAGGTGTTTTCCTCTTGGGCC	0.562000			T	ETV4	prostate								59	118					0	0	0.00361006	0	0
ST6GALNAC6	30815	broad.mit.edu	37	9	130656867	130656867	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:130656867C>T	ENST00000373146.1	-	4	400	c.221G>A	c.(220-222)cGg>cAg	p.R74Q	ST6GALNAC6_ENST00000291839.5_Missense_Mutation_p.R74Q|ST6GALNAC6_ENST00000373141.1_Missense_Mutation_p.R40Q|ST6GALNAC6_ENST00000373144.3_Missense_Mutation_p.R40Q|ST6GALNAC6_ENST00000373142.1_Missense_Mutation_p.R74Q|ST6GALNAC6_ENST00000542456.1_Missense_Mutation_p.G10R|ST6GALNAC6_ENST00000485320.1_5'UTR			Q969X2	SIA7F_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6	74					protein glycosylation	integral to Golgi membrane|plasma membrane				endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GCTACGGCCCCGCAGGGAGCC	0.577000													21	27					0	0	0.00229938	0	0
OR52M1	119772	broad.mit.edu	37	11	4567141	4567141	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:4567141C>T	ENST00000360213.1	+	1	721	c.721C>T	c.(721-723)Ctg>Ttg	p.L241L		NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M, member 1	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCTTAAAACCCTGGGGACATG	0.512000													12	36					0	0	0.00136819	0	0
GABPB2	126626	broad.mit.edu	37	1	151079611	151079611	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:151079611G>A	ENST00000368918.3	+	7	1166	c.835G>A	c.(835-837)Gga>Aga	p.G279R	GABPB2_ENST00000467551.1_3'UTR|GABPB2_ENST00000368916.1_Missense_Mutation_p.G241R|GABPB2_ENST00000368917.1_Missense_Mutation_p.G241R	NM_144618.2	NP_653219.1	Q8TAK5	GABP2_HUMAN	GA binding protein transcription factor, beta subunit 2	279					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	protein heterodimerization activity|transcription regulatory region DNA binding			breast(1)|endometrium(2)|large_intestine(3)|liver(2)|lung(7)	15				all cancers(107;7.17e-05)|GBM - Glioblastoma multiforme(94;0.000662)		AGTGACTGATGGAGTCCCTCT	0.458000													11	31					0	0	0.00136819	0	0
TP63	8626	broad.mit.edu	37	3	189586498	189586498	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:189586498G>A	ENST00000264731.3	+	8	1211	c.1122G>A	c.(1120-1122)acG>acA	p.T374T	TP63_ENST00000440651.2_Intron|TP63_ENST00000392460.3_Silent_p.T374T|TP63_ENST00000449992.1_Silent_p.T195T|TP63_ENST00000437221.1_Silent_p.T280T|TP63_ENST00000456148.1_Intron|TP63_ENST00000382063.4_Silent_p.T289T|TP63_ENST00000392463.2_Silent_p.T280T|TP63_ENST00000392461.3_Silent_p.T280T|TP63_ENST00000418709.2_Silent_p.T374T|TP63_ENST00000354600.5_Silent_p.T280T|TP63_ENST00000320472.5_Silent_p.T374T	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	374	Interaction with HIPK2.				anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		GTGATGGTACGAAGCGCCGTA	0.498000										HNSCC(45;0.13)			9	47					0	0	0.000978159	0	0
HOXA6	3203	broad.mit.edu	37	7	27186993	27186993	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:27186993C>T	ENST00000222728.3	-	1	400	c.376G>A	c.(376-378)Gaa>Aaa	p.E126K	HOXA-AS3_ENST00000518947.2_RNA|HOXA-AS3_ENST00000518848.1_RNA|HOXA3_ENST00000467897.2_Intron|HOXA-AS3_ENST00000521197.1_RNA|HOXA6_ENST00000521478.1_5'UTR	NM_024014.3	NP_076919.1	P31267	HXA6_HUMAN	homeobox A6	126						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(5)|lung(3)|ovary(1)	10						TCGGCGCCTTCGTCATGGAGT	0.617000													9	45					0	0	0.000274275	0	0
ATP8A1	10396	broad.mit.edu	37	4	42445675	42445675	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:42445675C>T	ENST00000381668.5	-	33	3261	c.3030G>A	c.(3028-3030)gcG>gcA	p.A1010A	ATP8A1_ENST00000264449.10_Silent_p.A995A	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	1010					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	TCCCCCATATCGCTATGTGGC	0.438000													5	26					0	0	0.00198382	0	0
CNTN3	5067	broad.mit.edu	37	3	74411160	74411160	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:74411160C>T	ENST00000263665.6	-	10	1272	c.1245G>A	c.(1243-1245)atG>atA	p.M415I		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	415	Ig-like C2-type 5.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		CCAACTTCTTCATTGGATTCT	0.473000													10	35					0	0	0.000978159	0	0
DNAH6	1768	broad.mit.edu	37	2	84780041	84780041	+	Splice_Site	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:84780041G>A	ENST00000389394.3	+	10	1622		c.e10-1		DNAH6_ENST00000237449.6_Splice_Site|DNAH6_ENST00000398278.2_Splice_Site	NM_001370.1	NP_001361.1	Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6						microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						ATTCATTTCAGGGGACCCTTA	0.358000													12	35					0	0	0.00136819	0	0
DSCAM	1826	broad.mit.edu	37	21	41725487	41725487	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr21:41725487A>T	ENST00000400454.1	-	5	1316	c.839T>A	c.(838-840)aTt>aAt	p.I280N		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	280	Ig-like C2-type 3.				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)				AATGTTCTCAATGAGCAGCCC	0.552000													10	20					0	0	0.000978159	0	0
ALS2	57679	broad.mit.edu	37	2	202570176	202570176	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:202570176C>T	ENST00000264276.6	-	30	4961	c.4589G>A	c.(4588-4590)tGg>tAg	p.W1530*	ALS2_ENST00000457679.2_3'UTR	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	1530	VPS9.				cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						GGTTGCTGGCCAAAATTTCCT	0.323000													7	66					0	0	0.000274275	0	0
ADAM12	8038	broad.mit.edu	37	10	127787064	127787064	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:127787064A>G	ENST00000368679.4	-	10	1235	c.926T>C	c.(925-927)gTt>gCt	p.V309A	ADAM12_ENST00000368676.4_Missense_Mutation_p.V309A	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	309	Peptidase M12B.				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		TTGGAAATAAACCCCACTAGG	0.433000													16	39					0	0	0.00074312	0	0
COL28A1	340267	broad.mit.edu	37	7	7493093	7493093	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:7493093C>T	ENST00000399429.3	-	17	1558	c.1418G>A	c.(1417-1419)gGa>gAa	p.G473E		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	473					cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		TAAGCCCTGTCCTGCGGGCCC	0.393000													17	125					0	0	0.00152264	0	0
ZBTB16	7704	broad.mit.edu	37	11	113935071	113935071	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:113935071C>T	ENST00000335953.4	+	2	1429	c.1049C>T	c.(1048-1050)tCt>tTt	p.S350F	ZBTB16_ENST00000392996.2_Missense_Mutation_p.S350F	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	350					apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		AGCATGCCGTCTTCCGTGACC	0.632000													14	24					0	0	0.00074312	0	0
MORC2	22880	broad.mit.edu	37	22	31333864	31333864	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr22:31333864T>C	ENST00000215862.4	-	15	2484	c.1121A>G	c.(1120-1122)tAc>tGc	p.Y374C	MORC2_ENST00000397641.2_Missense_Mutation_p.Y436C|MORC2_ENST00000469915.1_Intron	NM_014941.1	NP_055756.1	Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2	436							ATP binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						CAGGTGCCGGTACTCCTTGGC	0.582000													10	34					0	0	0.000673444	0	0
GMIP	51291	broad.mit.edu	37	19	19745506	19745506	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:19745506C>T	ENST00000203556.4	-	18	2031	c.1894G>A	c.(1894-1896)Gag>Aag	p.E632K	GMIP_ENST00000587238.1_Missense_Mutation_p.E606K|GMIP_ENST00000445806.2_Missense_Mutation_p.E603K|GMIP_ENST00000586269.1_Intron	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	632	Rho-GAP.				negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						ATCACGGGCTCGGTGAGCTGG	0.672000													13	70					0	0	0.00244969	0	0
NLRC4	58484	broad.mit.edu	37	2	32477592	32477592	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:32477592C>T	ENST00000404025.2	-	4	646	c.158G>A	c.(157-159)gGg>gAg	p.G53E	NLRC4_ENST00000360906.5_Missense_Mutation_p.G53E|NLRC4_ENST00000342905.6_Missense_Mutation_p.G53E|NLRC4_ENST00000402280.1_Missense_Mutation_p.G53E			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	53	CARD.				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					GTGAATGATCCCTCTAGCAGC	0.403000													13	123					0	0	0.00244969	0	0
FLOT1	10211	broad.mit.edu	37	6	30708088	30708088	+	Splice_Site	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:30708088C>T	ENST00000376389.3	-	8	791		c.e8-1		FLOT1_ENST00000456573.2_Splice_Site|FLOT1_ENST00000470643.1_Splice_Site	NM_005803.2	NP_005794.1	O75955	FLOT1_HUMAN	flotillin 1							centriolar satellite|endosome|integral to membrane|melanosome|membrane fraction				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	13						CTTTAGCTTCCTGTCCAAGCA	0.522000													8	71					0	0	0.00307968	0	0
SPOCK1	6695	broad.mit.edu	37	5	136602742	136602742	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:136602742A>C	ENST00000394945.1	-	3	358	c.189T>G	c.(187-189)gaT>gaG	p.D63E	SPOCK1_ENST00000282223.7_Missense_Mutation_p.D63E	NM_004598.3	NP_004589.1	Q08629	TICN1_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1	63					cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGAAATAATCATCCTATATAA	0.363000													19	66					0	0	0.000958276	0	0
PLEKHG3	26030	broad.mit.edu	37	14	65210244	65210244	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:65210244G>A	ENST00000247226.7	+	15	3623	c.3315G>A	c.(3313-3315)gaG>gaA	p.E1105E	PLEKHG3_ENST00000484731.2_Silent_p.E666E|PLEKHG3_ENST00000471182.2_Silent_p.E694E|PLEKHG3_ENST00000394691.1_Silent_p.E1161E|PLEKHG3_ENST00000492928.1_Intron	NM_015549.1	NP_056364.1	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	1161					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		GGCTGGAGGAGAGCAGTGGCC	0.637000													6	13					0	0	0.00116845	0	0
ZSCAN20	7579	broad.mit.edu	37	1	33944950	33944950	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:33944950C>T	ENST00000361328.3	+	2	214	c.61C>T	c.(61-63)Ctg>Ttg	p.L21L	ZSCAN20_ENST00000480917.1_3'UTR|ZSCAN20_ENST00000373413.2_Silent_p.L21L	NM_145238.3	NP_660281.2	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	21					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				TGAAGAACTCCTGATTGTGAA	0.562000													11	21					0	0	0.00136819	0	0
SPRR2E	6704	broad.mit.edu	37	1	153066064	153066064	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:153066064G>A	ENST00000368751.1	-	2	238	c.164C>T	c.(163-165)cCt>cTt	p.P55L	SPRR2E_ENST00000368750.3_Missense_Mutation_p.P55L|SPRR2B_ENST00000368752.4_Intron			P22531	SPR2E_HUMAN	small proline-rich protein 2E	55					keratinization	cornified envelope|cytoplasm	protein binding|structural molecule activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGTCACAGGAGGACATTTTTG	0.557000													66	118					0	0	0.00361006	0	0
F5	2153	broad.mit.edu	37	1	169511792	169511792	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:169511792C>T	ENST00000367796.3	-	13	2752	c.2551G>A	c.(2551-2553)Ggg>Agg	p.G851R	F5_ENST00000367797.3_Missense_Mutation_p.G846R			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	846	B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	p.G846W(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	AGACGTATCCCTGTGACATCT	0.458000													18	61					0	0	0.00121646	0	0
SCN10A	6336	broad.mit.edu	37	3	38743472	38743472	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:38743472C>T	ENST00000449082.2	-	26	4514	c.4515G>A	c.(4513-4515)acG>acA	p.T1505T		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1505					sensory perception	voltage-gated sodium channel complex		p.T1505T(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CCAGAATTTTCGTCTTTTCTT	0.453000													11	33					0	0	0.000673444	0	0
IGHG3	3502	broad.mit.edu	37	14	106235781	106235781	+	RNA	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:106235781C>T	ENST00000390551.2	-	0	925																											TCTCCCACTCCACGGCGATGT	0.622000													19	52					0	0	0.00152264	0	0
NUP210L	91181	broad.mit.edu	37	1	154033516	154033516	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:154033516A>C	ENST00000368559.3	-	19	2721	c.2650T>G	c.(2650-2652)Tcc>Gcc	p.S884A	NUP210L_ENST00000271854.3_Missense_Mutation_p.S884A	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	884						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			GGCAAGTTGGAAATTTCCTAG	0.433000													22	92					0	0	0.00229938	0	0
NAPA	8775	broad.mit.edu	37	19	47996236	47996236	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:47996236G>A	ENST00000263354.3	-	7	842	c.543C>T	c.(541-543)gcC>gcT	p.A181A	NAPA-AS1_ENST00000593284.1_RNA|NAPA_ENST00000595227.1_Silent_p.A142A|NAPA-AS1_ENST00000594367.1_RNA	NM_003827.3	NP_003818.2	P54920	SNAA_HUMAN	N-ethylmaleimide-sensitive factor attachment protein, alpha	181					cellular membrane fusion|intra-Golgi vesicle-mediated transport|post-Golgi vesicle-mediated transport	cytosol				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)	11		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		OV - Ovarian serous cystadenocarcinoma(262;0.000466)|all cancers(93;0.000739)|Epithelial(262;0.0168)|GBM - Glioblastoma multiforme(486;0.049)		AGATGTCAATGGCCTTCTGAT	0.612000													8	35					0	0	0.00244969	0	0
RNF144B	255488	broad.mit.edu	37	6	18463533	18463533	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:18463533C>T	ENST00000259939.3	+	7	1010	c.693C>T	c.(691-693)ttC>ttT	p.F231F	RNF144B_ENST00000429054.2_Silent_p.F142F	NM_182757.3	NP_877434.2	Q7Z419	R144B_HUMAN	ring finger protein 144B	231					apoptosis|positive regulation of anti-apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)	11	Ovarian(93;0.00365)|Breast(50;0.0145)	all_hematologic(90;0.0536)	OV - Ovarian serous cystadenocarcinoma(7;0.00165)|all cancers(50;0.0102)|Epithelial(50;0.0105)			ATGACATTTTCCTCAGACATT	0.393000													8	66					0	0	0.00307968	0	0
KCNS2	3788	broad.mit.edu	37	8	99440421	99440421	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:99440421G>A	ENST00000287042.4	+	2	564	c.214G>A	c.(214-216)Gac>Aac	p.D72N	KCNS2_ENST00000521839.1_Missense_Mutation_p.D72N	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	72						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.D72N(1)		autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			GTTCTACTTCGACCGCAACCC	0.602000													9	66					0	0	0.000442599	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18658353	18658353	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:18658353G>A	ENST00000433979.1	+	23	3274	c.3158G>A	c.(3157-3159)gGa>gAa	p.G1053E	PIK3C2G_ENST00000266497.5_Missense_Mutation_p.G1053E|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.G1094E	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	1053	PI3K/PI4K.				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				ATTGACTTTGGAAAATTCTTA	0.393000													7	17					0	0	0.00307968	0	0
SLC10A5	347051	broad.mit.edu	37	8	82606756	82606756	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:82606756A>G	ENST00000518568.1	-	1	1653	c.452T>C	c.(451-453)aTa>aCa	p.I151T		NM_001010893.2	NP_001010893.1	Q5PT55	NTCP5_HUMAN	solute carrier family 10, member 5	151						integral to membrane	bile acid:sodium symporter activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)	15						ATTCAATAGTATTAGTGGTAA	0.358000													29	82					0	0	0.00127121	0	0
SLC22A11	55867	broad.mit.edu	37	11	64329576	64329576	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:64329576C>T	ENST00000301891.4	+	3	972	c.598C>T	c.(598-600)Cgg>Tgg	p.R200W	SLC22A11_ENST00000377581.3_Missense_Mutation_p.R200W|SLC22A11_ENST00000377585.3_Missense_Mutation_p.R200W|SLC22A11_ENST00000490834.1_3'UTR	NM_018484.2	NP_060954.1	Q9NSA0	S22AB_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 11	200					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)	CTGCGGCCTGCGGTTCGTGGC	0.647000											OREG0004030	type=REGULATORY REGION|Gene=SLC22A11|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	8	28					0	0	0.000442599	0	0
LAMA3	3909	broad.mit.edu	37	18	21357535	21357535	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:21357535C>T	ENST00000313654.9	+	11	1661	c.1420C>T	c.(1420-1422)Cct>Tct	p.P474S	LAMA3_ENST00000399516.3_Missense_Mutation_p.P474S	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	474	Domain V.				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)	TCCCATTTTTCCTGTTTCTAC	0.333000													69	36					0	0	0.00361006	0	0
TLR8	51311	broad.mit.edu	37	X	12937473	12937473	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:12937473G>A	ENST00000218032.6	+	2	401	c.314G>A	c.(313-315)gGa>gAa	p.G105E	TLR8_ENST00000311912.5_Missense_Mutation_p.G123E	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	105					cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						CACCAGAACGGAAATCCCGGT	0.403000													21	44					0	0	0.000720815	0	0
MUC16	94025	broad.mit.edu	37	19	9070251	9070251	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:9070251G>A	ENST00000397910.4	-	3	17398	c.17195C>T	c.(17194-17196)tCa>tTa	p.S5732L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5734	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						AGAAGATTGTGATTCATGTCC	0.488000													6	14					0	0	0.000274275	0	0
DDX49	54555	broad.mit.edu	37	19	19032556	19032556	+	Splice_Site	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:19032556G>A	ENST00000438170.2	+	4	415	c.4_splice	c.e4+1	p.M1_splice	DDX49_ENST00000247003.4_Splice_Site_p.M108_splice|AC002985.3_ENST00000596918.1_Intron			Q9Y6V7	DDX49_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 49	108							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|endometrium(6)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	18			Epithelial(12;0.0289)			TCGGTGGCATGGGTACGGGAG	0.642000													7	22					0	0	0.000274275	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144879433	144879433	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:144879433C>T	ENST00000369359.4	-	30	4463	c.4425G>A	c.(4423-4425)caG>caA	p.Q1475Q	PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000313382.9_Silent_p.Q1295Q|PDE4DIP_ENST00000369356.4_Silent_p.Q1339Q|PDE4DIP_ENST00000369354.3_Silent_p.Q1339Q|PDE4DIP_ENST00000530740.1_Silent_p.Q1475Q			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1339					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GGAACTCTTCCTGCTTCCCTA	0.537000			T	PDGFRB	MPD								15	201					0	0	0.00400662	0	0
MYH1	4619	broad.mit.edu	37	17	10408304	10408304	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:10408304G>A	ENST00000226207.5	-	22	2608	c.2514C>T	c.(2512-2514)ttC>ttT	p.F838F	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	838						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GTTTGATCTTGAAATACAGCT	0.463000													22	30					0	0	0.00188189	0	0
STRA8	346673	broad.mit.edu	37	7	134925451	134925451	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:134925451G>A	ENST00000275764.3	+	2	241	c.241G>A	c.(241-243)Gat>Aat	p.D81N		NM_182489.1	NP_872295.1	Q7Z7C7	STRA8_HUMAN	stimulated by retinoic acid 8	81					DNA replication|regulation of transcription, DNA-dependent	cytoplasm|nucleus				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(1)	16						CTCTCAGTCTGATCTCATAGC	0.602000													11	73					0	0	0.00136819	0	0
COL14A1	7373	broad.mit.edu	37	8	121215985	121215985	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:121215985C>T	ENST00000297848.3	+	9	1185	c.915C>T	c.(913-915)atC>atT	p.I305I	COL14A1_ENST00000537875.1_Silent_p.I305I|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000247781.3_Silent_p.I210I|COL14A1_ENST00000309791.4_Silent_p.I305I	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	305	VWFA 1.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	p.I305I(1)		NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TGCAGGAGATCGCCTCTGAAC	0.498000													6	35					0	0	0.00116845	0	0
SFTPD	6441	broad.mit.edu	37	10	81697911	81697911	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:81697911C>T	ENST00000372292.3	-	8	865	c.825G>A	c.(823-825)acG>acA	p.T275T		NM_003019.4	NP_003010.4	P35247	SFTPD_HUMAN	surfactant protein D	275	C-type lectin.				cell junction assembly|innate immune response|lung alveolus development|macrophage chemotaxis|negative regulation of interleukin-2 biosynthetic process|negative regulation of T cell proliferation|positive regulation of phagocytosis|reactive oxygen species metabolic process|receptor-mediated endocytosis|respiratory gaseous exchange|surfactant homeostasis	collagen|endocytic vesicle|extracellular space|lysosome	bacterial cell surface binding|protein binding|sugar binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1)	17	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)			GCTGTGCCTCCGTAAATGGTT	0.532000													15	38					0	0	0.00074312	0	0
TTN	7273	broad.mit.edu	37	2	179575397	179575397	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:179575397C>T	ENST00000589042.1	-	98	28651	c.28427G>A	c.(28426-28428)gGa>gAa	p.G9476E	TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G8232E|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G9159E|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589830.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9159							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)			AGAGTCTTTTCCCACTTCATT	0.403000													13	86					0	0	0.00244969	0	0
CD1C	911	broad.mit.edu	37	1	158263252	158263252	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:158263252C>T	ENST00000368170.3	+	6	1267	c.988C>T	c.(988-990)Cag>Tag	p.Q330*		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	330				CSYQDIL -> W (in Ref. 1; AAA51942).	antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					CAGCTCATATCAGGACATCCT	0.483000													9	60					0	0	0.000673444	0	0
FER1L6	654463	broad.mit.edu	37	8	124992888	124992888	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:124992888C>T	ENST00000522917.1	+	11	1453	c.1247C>T	c.(1246-1248)tCc>tTc	p.S416F	FER1L6_ENST00000399018.1_Missense_Mutation_p.S416F	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	416						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TCTAAATTTTCCAAGGCCCTG	0.458000											OREG0018964	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	74					0	0	0.000274275	0	0
ZSCAN21	7589	broad.mit.edu	37	7	99654869	99654869	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:99654869C>T	ENST00000292450.4	+	2	404	c.240C>T	c.(238-240)acC>acT	p.T80T	ZSCAN21_ENST00000543588.1_Silent_p.T80T|ZSCAN21_ENST00000456748.2_Silent_p.T80T|ZSCAN21_ENST00000477297.1_3'UTR	NM_145914.2	NP_666019.1	Q9Y5A6	ZSC21_HUMAN	zinc finger and SCAN domain containing 21	80	SCAN box.				positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			AGATCCACACCAAGGAGCAGA	0.637000													18	10					0	0	0.00074312	0	0
BMP1	649	broad.mit.edu	37	8	22033798	22033798	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:22033798C>T	ENST00000306385.5	+	3	1075	c.405C>T	c.(403-405)atC>atT	p.I135I	BMP1_ENST00000306349.8_Silent_p.I135I|BMP1_ENST00000354870.5_Silent_p.I135I|BMP1_ENST00000397816.3_Silent_p.I135I|BMP1_ENST00000523849.1_3'UTR|BMP1_ENST00000397814.3_Silent_p.I135I	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	135	Metalloprotease.				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		ATGGGGTCATCCCCTTTGTCA	0.647000													9	29					0	0	0.000978159	0	0
ADCYAP1	116	broad.mit.edu	37	18	905484	905484	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:905484T>C	ENST00000579794.1	+	1	375	c.97T>C	c.(97-99)Ttc>Ctc	p.F33L	RP11-672L10.3_ENST00000582554.1_RNA|ADCYAP1_ENST00000450565.3_Missense_Mutation_p.F33L|RP11-672L10.2_ENST00000577358.1_RNA|RP11-672L10.2_ENST00000581719.1_RNA	NM_001117.3	NP_001108.2	P18509	PACA_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary)	33					activation of adenylate cyclase activity|cell-cell signaling|female pregnancy|nerve growth factor receptor signaling pathway|regulation of G-protein coupled receptor protein signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|peptide hormone receptor binding			endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						CGGACTCCGGTTCCCCGGGAT	0.632000													5	15					0	0	0.000602214	0	0
PSG6	5675	broad.mit.edu	37	19	43420350	43420350	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:43420350G>A	ENST00000601833.1	-	2	1424	c.141C>T	c.(139-141)tcC>tcT	p.S47S	PSG6_ENST00000187910.2_Silent_p.S118S|PSG6_ENST00000292125.2_Silent_p.S118S|PSG6_ENST00000402603.4_Silent_p.S118S					pregnancy specific beta-1-glycoprotein 6											central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				GTAAGGTGTAGGATCCTGCAT	0.473000													70	80					0	0	0.00361006	0	0
ERI1	90459	broad.mit.edu	37	8	8877879	8877879	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:8877879T>C	ENST00000523898.1	+	7	1391	c.712T>C	c.(712-714)Ttc>Ctc	p.F238L	ERI1_ENST00000520332.1_3'UTR|ERI1_ENST00000519292.1_Missense_Mutation_p.F238L|ERI1_ENST00000250263.7_Missense_Mutation_p.F238L			Q8IV48	ERI1_HUMAN	exoribonuclease 1	238	Exonuclease.				gene silencing by RNA|rRNA 3'-end processing	cytoplasm|histone pre-mRNA 3'end processing complex|nucleolus	3'-5' exonuclease activity|histone pre-mRNA stem-loop binding|metal ion binding|ribosome binding|rRNA binding			NS(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11					Adenosine monophosphate(DB00131)	TATGAGTAAGTTCTTGAACAT	0.299000													21	70					0	0	0.00188189	0	0
IARS2	55699	broad.mit.edu	37	1	220315224	220315224	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:220315224C>T	ENST00000366922.1	+	20	2609	c.2278C>T	c.(2278-2280)Cgt>Tgt	p.R760C	IARS2_ENST00000467924.1_3'UTR|IARS2_ENST00000302637.5_Missense_Mutation_p.R832C			Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial	832					isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity			NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	TGTAATAGTTCGTTCTTTTGC	0.378000													32	111					0	0	0.00327116	0	0
PKDREJ	10343	broad.mit.edu	37	22	46654651	46654651	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr22:46654651A>T	ENST00000253255.5	-	1	4568	c.4569T>A	c.(4567-4569)caT>caA	p.H1523Q		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1523					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		GTGCTTTCCTATGCCTGTGCT	0.498000													60	110					0	0	0.00361006	0	0
ZNF208	7757	broad.mit.edu	37	19	22156932	22156932	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:22156932T>G	ENST00000397126.4	-	4	1052	c.904A>C	c.(904-906)Aca>Cca	p.T302P	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				GCCTTATGTGTAGTAAGAGTC	0.388000													7	32					0	0	0.00198382	0	0
DSC1	1823	broad.mit.edu	37	18	28739459	28739459	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:28739459C>T	ENST00000257197.3	-	2	358	c.97G>A	c.(97-99)Gtt>Att	p.V33I	RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257198.5_Missense_Mutation_p.V33I	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	33					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)			CGAAGATAAACTTTCTGACAA	0.318000													73	53					0	0	0.00361006	0	0
LRP1	4035	broad.mit.edu	37	12	57577214	57577214	+	Silent	SNP	C	C	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:57577214C>A	ENST00000243077.3	+	35	6181	c.5715C>A	c.(5713-5715)ccC>ccA	p.P1905P		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1905					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GGGGAATTCCCCTGGATCCCA	0.552000											OREG0021938	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	15					0.00307968	0.00887212	0.00307968	1	0
ABCA8	10351	broad.mit.edu	37	17	66936911	66936911	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:66936911G>A	ENST00000269080.2	-	3	426	c.289C>T	c.(289-291)Ccc>Tcc	p.P97S	ABCA8_ENST00000430352.2_Missense_Mutation_p.P97S|ABCA8_ENST00000586539.1_Missense_Mutation_p.P97S	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	97						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					GCCAGGAAGGGAGTAGAGGCT	0.373000													13	39					0	0	0.00316338	0	0
GCM2	9247	broad.mit.edu	37	6	10876690	10876690	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:10876690C>T	ENST00000379491.4	-	3	591	c.444G>A	c.(442-444)gcG>gcA	p.A148A	SYCP2L_ENST00000543878.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron	NM_004752.3	NP_004743.1	O75603	GCM2_HUMAN	glial cells missing homolog 2 (Drosophila)	148					cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				GAAAAAAGATCGCGTTGCCAT	0.498000													7	73					0	0	0.000442599	0	0
GRM7	2917	broad.mit.edu	37	3	7494382	7494382	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:7494382C>T	ENST00000486284.1	+	6	1537	c.1263C>T	c.(1261-1263)gcC>gcT	p.A421A	GRM7_ENST00000403881.1_Silent_p.A421A|GRM7_ENST00000402647.2_Silent_p.A421A|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000389336.4_Silent_p.A421A|GRM7_ENST00000357716.4_Silent_p.A421A	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	421					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	TGGCTCACGCCCTTCACCACA	0.488000													5	16					0	0	0.00116845	0	0
NUP210	23225	broad.mit.edu	37	3	13378289	13378289	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:13378289C>T	ENST00000254508.5	-	27	3764	c.3682G>A	c.(3682-3684)Gag>Aag	p.E1228K		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1228					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					TTACCTACCTCGTGGTGCCGC	0.647000													4	10					0	0	0.00024832	0	0
MAGEB1	4112	broad.mit.edu	37	X	30269117	30269117	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:30269117C>T	ENST00000378981.3	+	4	828	c.507C>T	c.(505-507)aaC>aaT	p.N169N	MAGEB1_ENST00000397548.2_Silent_p.N169N|MAGEB1_ENST00000397550.1_Silent_p.N169N	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	169	MAGE.									NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						AGGAAGACAACCCTAGTGGCC	0.493000													7	18					0	0	0.00198382	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14414844	14414844	+	RNA	SNP	T	T	C	rs148060711	by1000genomes	TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr21:14414844T>C	ENST00000507941.1	+	0	95																											ACTGGGCCTGTGCCAATGGCC	0.433000													3	19					0	0	6.4e-05	0	0
OR2T33	391195	broad.mit.edu	37	1	248436382	248436382	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:248436382C>T	ENST00000318021.2	-	1	756	c.735G>A	c.(733-735)gtG>gtA	p.V245V		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	245					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			AGAGTCCCACCACAGCCACAT	0.498000													6	46					0	0	0.00198382	0	0
MXRA5	25878	broad.mit.edu	37	X	3240459	3240459	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:3240459C>T	ENST00000217939.6	-	5	3421	c.3267G>A	c.(3265-3267)gaG>gaA	p.E1089E		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1089						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)				TGGATTTGCTCTCTTGGCCCT	0.478000													7	29					0	0	0.000673444	0	0
MMP16	4325	broad.mit.edu	37	8	89053923	89053923	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:89053923C>T	ENST00000286614.6	-	10	1871	c.1590G>A	c.(1588-1590)atG>atA	p.M530I		NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	530	Hemopexin-like 4.				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						CATCACAGCCCATAAAATCCT	0.428000													8	41					0	0	0.00307968	0	0
FAM20C	56975	broad.mit.edu	37	7	195687	195687	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:195687G>A	ENST00000313766.5	+	2	970	c.739G>A	c.(739-741)Gag>Aag	p.E247K	FAM20C_ENST00000471328.1_3'UTR	NM_020223.3	NP_064608.2	Q8IXL6	DMP4_HUMAN	family with sequence similarity 20, member C	247						extracellular region				endometrium(1)|lung(2)|urinary_tract(1)	4		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.57e-17)|Epithelial(4;1.26e-16)|all cancers(6;4.79e-14)		CCCGGCCATCGAGGCCCTGCT	0.632000													7	50					0	0	0.000442599	0	0
TCHHL1	126637	broad.mit.edu	37	1	152059655	152059655	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:152059655A>C	ENST00000368806.1	-	3	567	c.503T>G	c.(502-504)tTt>tGt	p.F168C		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	168							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			TTCTCCTGGAAAGTTGTGAGT	0.448000													14	61					0	0	0.00244969	0	0
CREB5	9586	broad.mit.edu	37	7	28534529	28534529	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:28534529C>T	ENST00000357727.2	+	3	471	c.81C>T	c.(79-81)ttC>ttT	p.F27F	CREB5_ENST00000396299.2_5'UTR|CREB5_ENST00000409603.1_5'UTR|CREB5_ENST00000396300.2_Silent_p.F20F	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	27					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						GACAGCGCTTCCCAACAGAGG	0.363000													54	290					0	0	0.00361006	0	0
EYS	346007	broad.mit.edu	37	6	66200546	66200546	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:66200546C>T	ENST00000503581.1	-	5	1340	c.803G>A	c.(802-804)gGa>gAa	p.G268E	EYS_ENST00000370616.2_Missense_Mutation_p.G268E|EYS_ENST00000370618.3_Missense_Mutation_p.G268E|EYS_ENST00000370621.3_Missense_Mutation_p.G268E|EYS_ENST00000342421.5_Missense_Mutation_p.G268E|EYS_ENST00000393380.2_Missense_Mutation_p.G268E	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	268	EGF-like 3.				response to stimulus|visual perception	extracellular region	calcium ion binding	p.G268V(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						GCTGCAGTTTCCATGGAAACA	0.299000													5	51					0	0	0.00307968	0	0
SLC39A6	25800	broad.mit.edu	37	18	33706700	33706700	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:33706700G>A	ENST00000269187.5	-	2	484	c.271C>T	c.(271-273)Cat>Tat	p.H91Y	SLC39A6_ENST00000440549.2_Intron|SLC39A6_ENST00000590986.1_Missense_Mutation_p.H91Y	NM_012319.3	NP_036451.3	Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter), member 6	91	His-rich.					integral to membrane|lamellipodium membrane	zinc ion transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	41						tggtgTATATGGATTCTTTTA	0.418000													9	32					0	0	0.000274275	0	0
KAT6B	23522	broad.mit.edu	37	10	76603188	76603188	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:76603188C>T	ENST00000287239.4	+	3	1062	c.573C>T	c.(571-573)ttC>ttT	p.F191F	KAT6B_ENST00000372711.1_Silent_p.F191F|KAT6B_ENST00000372725.1_Silent_p.F191F|KAT6B_ENST00000372714.1_Silent_p.F191F|KAT6B_ENST00000372724.1_Silent_p.F191F	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN	K(lysine) acetyltransferase 6B	191					histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding										CCAGTGCATTCCCATCCTCGC	0.502000													11	30					0	0	0.000673444	0	0
LAPTM5	7805	broad.mit.edu	37	1	31208062	31208062	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:31208062C>T	ENST00000294507.3	-	7	731	c.657G>A	c.(655-657)atG>atA	p.M219I		NM_006762.2	NP_006753.1	Q13571	LAPM5_HUMAN	lysosomal protein transmembrane 5	219					transport	integral to plasma membrane|lysosomal membrane				large_intestine(2)|lung(7)|skin(1)	10		Colorectal(325;0.0199)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0966)|Medulloblastoma(700;0.151)|Ovarian(437;0.192)		STAD - Stomach adenocarcinoma(196;0.0196)|READ - Rectum adenocarcinoma(331;0.0649)		CCACCGAGTTCATGCACTTGA	0.547000													25	102					0	0	0.000720815	0	0
ZFR	51663	broad.mit.edu	37	5	32415291	32415291	+	Splice_Site	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:32415291G>A	ENST00000265069.8	-	5	669	c.565_splice	c.e5-1	p.A189_splice		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	189	Ala-rich.				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		CTGCTTTGGGGGCTGAAGTAG	0.438000													34	130					0	0	0.00128727	0	0
PDGFC	56034	broad.mit.edu	37	4	157771521	157771521	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:157771521C>T	ENST00000502773.1	-	2	656	c.166G>A	c.(166-168)Gga>Aga	p.G56R	PDGFC_ENST00000422544.2_Missense_Mutation_p.G56R|PDGFC_ENST00000541126.1_Intron	NM_016205.2	NP_057289.1	Q9NRA1	PDGFC_HUMAN	platelet derived growth factor C	56	CUB.				central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of cell division|positive regulation of DNA replication|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway	endoplasmic reticulum lumen|extracellular space|Golgi membrane|nucleus	cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		TGAATACTTCCATTAGTAGAC	0.348000													9	22					0	0	0.000442599	0	0
EZR	7430	broad.mit.edu	37	6	159190428	159190428	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:159190428G>A	ENST00000367075.3	-	12	1442	c.1274C>T	c.(1273-1275)aCt>aTt	p.T425I	EZR_ENST00000337147.7_Missense_Mutation_p.T425I|EZR_ENST00000392177.4_Missense_Mutation_p.T393I	NM_001111077.1	NP_001104547.1	P15311	EZRI_HUMAN	ezrin	425	Interaction with SCYL3.				actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape	actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane	actin filament binding|cell adhesion molecule binding		EZR/ROS1(4)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	15		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)		AATCTTGGCAGTGTATTCTGC	0.562000			T	ROS1	NSCLC								4	15					0	0	0.00198382	0	0
NLRP2	55655	broad.mit.edu	37	19	55495044	55495044	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:55495044G>A	ENST00000543010.1	+	6	2121	c.1978G>A	c.(1978-1980)Gag>Aag	p.E660K	NLRP2_ENST00000538819.1_Missense_Mutation_p.E636K|NLRP2_ENST00000448584.2_Missense_Mutation_p.E660K|NLRP2_ENST00000263437.6_Missense_Mutation_p.E657K|NLRP2_ENST00000391721.4_Missense_Mutation_p.E636K|NLRP2_ENST00000339757.7_Missense_Mutation_p.E638K|NLRP2_ENST00000427260.2_Missense_Mutation_p.E637K|NLRP2_ENST00000537859.1_Missense_Mutation_p.E638K	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	660					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GGTAATAAAGGAGAATCTCCC	0.478000													9	43					0	0	0.000442599	0	0
PPFIA1	8500	broad.mit.edu	37	11	70194463	70194463	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:70194463C>T	ENST00000253925.7	+	16	2315	c.2100C>T	c.(2098-2100)tcC>tcT	p.S700S	PPFIA1_ENST00000389547.3_Silent_p.S700S|AP000487.6_ENST00000528607.1_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	700					cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			GTGGGCGCTCCACCCCACGAA	0.597000													13	78					0	0	0.000566183	0	0
OR1L6	392390	broad.mit.edu	37	9	125512861	125512861	+	Silent	SNP	C	C	T	rs150308775		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:125512861C>T	ENST00000373684.1	+	1	843	c.843C>T	c.(841-843)caC>caT	p.H281H	OR1L6_ENST00000304720.2_Silent_p.H245H			Q8NGR2	OR1L6_HUMAN	olfactory receptor, family 1, subfamily L, member 6	281					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	12						GTGGCTCCCACCTCACTGCAG	0.507000													5	25					0	0	0.00198382	0	0
MDN1	23195	broad.mit.edu	37	6	90382348	90382348	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:90382348G>A	ENST00000369393.3	-	81	13663	c.13548C>T	c.(13546-13548)ctC>ctT	p.L4516L	MDN1_ENST00000428876.1_Silent_p.L4516L			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4516					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	p.L4516L(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GGATGGCACAGAGGATGGCTC	0.418000													13	28					0	0	0.00136819	0	0
MYO1D	4642	broad.mit.edu	37	17	31039005	31039005	+	Splice_Site	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:31039005C>T	ENST00000318217.5	-	16	2426		c.e16+1		MYO1D_ENST00000579584.1_Splice_Site|MYO1D_ENST00000394649.4_Splice_Site	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID							myosin complex	actin binding|ATP binding|calmodulin binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			tataaaattaCCTTTTGTAGA	0.313000													7	54					0	0	0.00307968	0	0
KIAA2022	340533	broad.mit.edu	37	X	73963427	73963427	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:73963427C>T	ENST00000373468.1	-	3	1616	c.965G>A	c.(964-966)cGa>cAa	p.R322Q	KIAA2022_ENST00000055682.5_Missense_Mutation_p.R322Q			Q5QGS0	K2022_HUMAN	KIAA2022	322					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						AGTCTTGTCTCGAACATTGTC	0.443000													11	30					0	0	0.00185496	0	0
CALN1	83698	broad.mit.edu	37	7	71275406	71275406	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:71275406C>T	ENST00000395275.2	-	6	961	c.573G>A	c.(571-573)acG>acA	p.T191T	CALN1_ENST00000395276.2_Silent_p.T149T|CALN1_ENST00000329008.5_Silent_p.T149T|CALN1_ENST00000412588.1_Silent_p.T191T|CALN1_ENST00000405452.2_Silent_p.T149T|CALN1_ENST00000431984.1_Silent_p.T149T	NM_031468.3	NP_113656.2	Q9BXU9	CABP8_HUMAN	calneuron 1	149						Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding	p.T149T(1)		biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				TGTCCTTCATCGTTAGGTGGT	0.463000													13	116					0	0	0.00244969	0	0
SH3BP4	23677	broad.mit.edu	37	2	235949919	235949919	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:235949919C>T	ENST00000409212.1	+	4	1013	c.506C>T	c.(505-507)cCa>cTa	p.P169L	SH3BP4_ENST00000392011.2_Missense_Mutation_p.P169L|SH3BP4_ENST00000344528.4_Missense_Mutation_p.P169L			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	169					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		CAGACCAATCCATTTCTGAAT	0.507000													30	37					0	0	0.00327116	0	0
OTOS	150677	broad.mit.edu	37	2	241078668	241078668	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:241078668G>A	ENST00000391989.2	-	5	419	c.189C>T	c.(187-189)atC>atT	p.I63I	OTOS_ENST00000319460.1_Silent_p.I63I			Q8NHW6	OTOSP_HUMAN	otospiralin	63						extracellular region				endometrium(2)|large_intestine(1)|lung(3)	6		all_epithelial(40;2.79e-15)|Breast(86;3.04e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|Hepatocellular(293;0.148)|all_hematologic(139;0.158)|Melanoma(123;0.16)		Epithelial(32;2.56e-30)|all cancers(36;7.18e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.37e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.07e-06)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)		CCATGTCCTCGATCTGGGGGT	0.622000													17	20					0	0	0.000958276	0	0
RIMS2	9699	broad.mit.edu	37	8	105263946	105263946	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:105263946C>T	ENST00000507740.1	+	22	3626	c.3390C>T	c.(3388-3390)ttC>ttT	p.F1130F	RIMS2_ENST00000262231.10_Silent_p.F1155F|RIMS2_ENST00000339750.2_Silent_p.F252F|RIMS2_ENST00000436393.2_Silent_p.F1334F|RIMS2_ENST00000406091.3_Silent_p.F1316F	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1378					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TCAAACTTTTCCCACCTTCCT	0.448000										HNSCC(12;0.0054)			61	69					0	0	0.00361006	0	0
NXF3	56000	broad.mit.edu	37	X	102337212	102337212	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:102337212C>T	ENST00000395065.3	-	9	962	c.861G>A	c.(859-861)acG>acA	p.T287T	NXF3_ENST00000425644.1_5'UTR|NXF3_ENST00000425463.2_Silent_p.T198T	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	287						cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						CCGAGAAGGTCGTGCACACTG	0.542000													34	50					0	0	0.00148497	0	0
CAMK4	814	broad.mit.edu	37	5	110820045	110820045	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:110820045G>A	ENST00000282356.4	+	11	1701	c.1303G>A	c.(1303-1305)Ggc>Agc	p.G435S	CAMK4_ENST00000512453.1_Missense_Mutation_p.G435S|CAMK4_ENST00000512890.1_3'UTR	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	435					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		ACTAGAGGAGGGCCTAGCAGA	0.527000													6	20					0	0	0.00116845	0	0
SPESP1	246777	broad.mit.edu	37	15	69222999	69222999	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:69222999C>T	ENST00000310673.3	+	1	161	c.7C>T	c.(7-9)Ccc>Tcc	p.P3S	RP11-809H16.2_ENST00000557966.1_RNA|NOX5_ENST00000448182.3_5'UTR|NOX5_ENST00000260364.5_5'UTR|NOX5_ENST00000455873.3_5'UTR|SPESP1_ENST00000560188.1_Intron	NM_145658.3	NP_663633.1	Q6UW49	SPESP_HUMAN	sperm equatorial segment protein 1	3					multicellular organismal development	acrosomal vesicle				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	19						GCCTATGAAGCCCTTAGTCCT	0.622000													16	74					0	0	0.000566183	0	0
FKBPL	63943	broad.mit.edu	37	6	32096866	32096866	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:32096866C>T	ENST00000375156.3	-	2	962	c.692G>A	c.(691-693)cGa>cAa	p.R231Q		NM_022110.3	NP_071393.2	Q9UIM3	FKBPL_HUMAN	FK506 binding protein like	231					response to radiation	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity	p.R231Q(1)									TCCATAGCATCGGGCAGCTCC	0.587000													39	287					0	0	0.00128727	0	0
PLXNA4	91584	broad.mit.edu	37	7	131859576	131859576	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:131859576G>A	ENST00000359827.3	-	21	4940	c.3978C>T	c.(3976-3978)ttC>ttT	p.F1326F	PLXNA4_ENST00000321063.4_Silent_p.F1326F			Q9HCM2	PLXA4_HUMAN	plexin A4	1326						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CAATTCCTGGGAACAGCACCC	0.562000													19	93					0	0	0.00152264	0	0
WDR33	55339	broad.mit.edu	37	2	128467156	128467156	+	Splice_Site	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:128467156C>T	ENST00000322313.4	-	20	3631	c.3472_splice	c.e20-1	p.G1158_splice		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	1158					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		CTTCCTTCCTCCTACACAACA	0.502000													11	38					0	0	0.000673444	0	0
OR8U1	219417	broad.mit.edu	37	11	56143526	56143526	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:56143526C>T	ENST00000302270.1	+	1	427	c.427C>T	c.(427-429)Caa>Taa	p.Q143*		NM_001005204.1	NP_001005204.1			olfactory receptor, family 8, subfamily U, member 1											NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1)	39	Esophageal squamous(21;0.00448)					AATCTGCATTCAACTTGTAGC	0.443000													17	44					0	0	0.00400662	0	0
CTCF	10664	broad.mit.edu	37	16	67650748	67650748	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:67650748C>T	ENST00000264010.4	+	5	1497	c.1053C>T	c.(1051-1053)ttC>ttT	p.F351F	CTCF_ENST00000401394.1_Silent_p.F23F	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	351					chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		AGAAGCCATTCAAGTGTTCCA	0.463000													12	151					0	0	0.00316338	0	0
BBS9	27241	broad.mit.edu	37	7	33397504	33397504	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:33397504C>T	ENST00000242067.6	+	16	2111	c.1590C>T	c.(1588-1590)ccC>ccT	p.P530P	BBS9_ENST00000396127.2_Silent_p.P495P|BBS9_ENST00000355070.2_Silent_p.P525P|BBS9_ENST00000354265.4_Silent_p.P495P|BBS9_ENST00000350941.3_Silent_p.P490P	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	530					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding		BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			TTAGACTTCCCCTAAAGTTAA	0.348000									Bardet-Biedl syndrome				23	148					0	0	0.00395357	0	0
PRMT3	10196	broad.mit.edu	37	11	20529934	20529934	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:20529934C>T	ENST00000331079.6	+	16	1788	c.1571C>T	c.(1570-1572)tCa>tTa	p.S524L	PRMT3_ENST00000437750.2_Missense_Mutation_p.S462L	NM_001145167.1|NM_005788.3	NP_001138639.1|NP_005779.1	O60678	ANM3_HUMAN	protein arginine methyltransferase 3	524							zinc ion binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						TTGAATAATTCAACTCAAACT	0.443000													9	44					0	0	0.00136819	0	0
MYO1E	4643	broad.mit.edu	37	15	59523928	59523928	+	Silent	SNP	G	G	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:59523928G>T	ENST00000288235.4	-	6	882	c.483C>A	c.(481-483)acC>acA	p.T161T	MYO1E_ENST00000558814.1_5'UTR	NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE	161	Myosin head-like.				actin filament-based movement	myosin complex	actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		TGTTCCGGACGGTCTTGGCGT	0.517000													7	43					0.000274275	0.00079445	0.000274275	1	0
CD2	914	broad.mit.edu	37	1	117311391	117311391	+	Missense_Mutation	SNP	C	C	T	rs41313991	byFrequency	TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:117311391C>T	ENST00000369478.3	+	5	1150	c.1042C>T	c.(1042-1044)Cct>Tct	p.P348S		NM_001767.3	NP_001758.2	P06729	CD2_HUMAN	CD2 molecule	348				HGAAENSLSPSSN -> MGQQKTHCPLPLIKKDRNCLFQ (in Ref. 3; AAA51946).	blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation|T cell activation	integral to plasma membrane	receptor activity			NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	Alefacept(DB00092)	CTCATTGTCCCCTTCCTCTAA	0.488000													13	28					0	0	0.00185496	0	0
CLEC5A	23601	broad.mit.edu	37	7	141635657	141635657	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:141635657C>T	ENST00000546910.1	-	5	498	c.302G>A	c.(301-303)gGa>gAa	p.G101E	CLEC5A_ENST00000438351.1_Missense_Mutation_p.G78E|CLEC5A_ENST00000439991.1_Intron|CLEC5A_ENST00000470595.1_Intron|CLEC5A_ENST00000551012.2_Missense_Mutation_p.G78E	NM_013252.2	NP_037384.1	Q9NY25	CLC5A_HUMAN	C-type lectin domain family 5, member A	101	C-type lectin.				anti-apoptosis|cellular defense response|innate immune response|interspecies interaction between organisms|osteoblast development	cell surface|integral to plasma membrane	sugar binding|viral receptor activity			endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	10	Melanoma(164;0.0171)					GGATCCTTTTCCTTTGCAAAA	0.443000													13	57					0	0	0.00316338	0	0
TESPA1	9840	broad.mit.edu	37	12	55356625	55356625	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:55356625A>C	ENST00000524622.1	-	7	1304	c.643T>G	c.(643-645)Ttg>Gtg	p.L215V	TESPA1_ENST00000531122.1_Missense_Mutation_p.L215V|TESPA1_ENST00000316577.8_Missense_Mutation_p.L353V|TESPA1_ENST00000532804.1_Missense_Mutation_p.L215V|TESPA1_ENST00000449076.1_Missense_Mutation_p.L353V	NM_001261844.1|NM_014796.2	NP_001248773.1|NP_055611.1	A2RU30	K0748_HUMAN	thymocyte expressed, positive selection associated 1	353																	GAAGTGGGCAACTTCTTACCC	0.507000													6	15					0	0	0.00116845	0	0
GRM3	2913	broad.mit.edu	37	7	86394792	86394792	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:86394792G>A	ENST00000361669.2	+	2	1430	c.331G>A	c.(331-333)Gag>Aag	p.E111K	GRM3_ENST00000536043.1_Intron|GRM3_ENST00000394720.2_Missense_Mutation_p.E109K|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000439827.1_Missense_Mutation_p.E111K	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	111					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	GCAATCACTGGAGTTTGTCAG	0.418000													6	41					0	0	0.00198382	0	0
RHBDL2	54933	broad.mit.edu	37	1	39381318	39381318	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:39381318C>T	ENST00000289248.2	-	3	1319	c.311G>A	c.(310-312)gGc>gAc	p.G104D	RHBDL2_ENST00000540558.1_Missense_Mutation_p.G104D|RHBDL2_ENST00000538156.1_Missense_Mutation_p.G171D|RP5-864K19.4_ENST00000433671.2_RNA|RHBDL2_ENST00000372985.3_Missense_Mutation_p.G184D|RHBDL2_ENST00000372990.1_Missense_Mutation_p.G104D			Q9NX52	RHBL2_HUMAN	rhomboid, veinlet-like 2 (Drosophila)	104					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)			CTCCAAGATGCCTGTGTCCAA	0.473000													15	43					0	0	0.00316338	0	0
RNMT	8731	broad.mit.edu	37	18	13752422	13752422	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:13752422C>T	ENST00000383314.2	+	10	1595	c.1355C>T	c.(1354-1356)cCt>cTt	p.P452L	RNMT_ENST00000262173.3_Missense_Mutation_p.P452L|RNMT_ENST00000535051.1_Missense_Mutation_p.P210L|RNMT_ENST00000589866.1_Missense_Mutation_p.P452L|RNMT_ENST00000543302.2_Missense_Mutation_p.P452L|RNMT_ENST00000592764.1_Missense_Mutation_p.P452L			O43148	MCES_HUMAN	RNA (guanine-7-) methyltransferase	452					mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	mRNA (guanine-N7-)-methyltransferase activity|RNA binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|skin(2)	18						GTAAGGTTACCTTTGGTAAGT	0.328000													5	39					0	0	0.00116845	0	0
EVPL	2125	broad.mit.edu	37	17	74005104	74005104	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:74005104G>A	ENST00000301607.3	-	22	4435	c.4182C>T	c.(4180-4182)agC>agT	p.S1394S	EVPL_ENST00000586740.1_Silent_p.S1416S	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1394	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CCTCATCCAGGCTCCCGCTCA	0.692000													30	34					0	0	0.00178596	0	0
PKD1L1	168507	broad.mit.edu	37	7	47925613	47925613	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:47925613C>T	ENST00000289672.2	-	18	2926	c.2876G>A	c.(2875-2877)gGa>gAa	p.G959E		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	959	REJ.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GGCACCGAGTCCCAGCGAGCC	0.478000													11	72					0	0	0.000978159	0	0
GPR111	222611	broad.mit.edu	37	6	47649301	47649301	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:47649301C>T	ENST00000398742.2	+	5	851	c.802C>T	c.(802-804)Cct>Tct	p.P268S	GPR111_ENST00000507065.1_Missense_Mutation_p.P268S|GPR111_ENST00000296862.1_Missense_Mutation_p.P336S			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	336					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						GGTGCCTTCCCCTTCTCAGGT	0.418000													19	102					0	0	0.00152264	0	0
NEK11	79858	broad.mit.edu	37	3	130871529	130871529	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:130871529C>T	ENST00000383366.4	+	9	1145	c.852C>T	c.(850-852)atC>atT	p.I284I	NEK11_ENST00000356918.4_Silent_p.I284I|NEK11_ENST00000429253.2_Silent_p.I284I|NEK11_ENST00000426022.2_3'UTR|NEK11_ENST00000508196.1_Silent_p.I284I|NEK11_ENST00000510769.1_Intron|NEK11_ENST00000511262.1_Silent_p.I284I|NEK11_ENST00000510688.1_Silent_p.I284I|NEK11_ENST00000507910.1_Silent_p.I284I|NEK11_ENST00000412440.2_Silent_p.I136I	NM_024800.4	NP_079076.3	Q8NG66	NEK11_HUMAN	NIMA-related kinase 11	284	Protein kinase.				cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						TTTTAAAAATCCCTTACCTTG	0.323000													11	24					0	0	0.000978159	0	0
TSIX	9383	broad.mit.edu	37	X	73045047	73045047	+	RNA	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:73045047C>T	ENST00000604411.1	+	0	33008				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						CATGTGTTTTCGTTTCTGATA	0.333000													12	22					0	0	0.000978159	0	0
UGT3A2	167127	broad.mit.edu	37	5	36049010	36049010	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:36049010G>A	ENST00000282507.3	-	4	925	c.824C>T	c.(823-825)cCt>cTt	p.P275L	UGT3A2_ENST00000545528.1_Intron|UGT3A2_ENST00000513300.1_Missense_Mutation_p.P241L|UGT3A2_ENST00000504954.1_Intron	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	275						integral to membrane	glucuronosyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGGTTTAATAGGTTTTTCCAT	0.463000													7	31					0	0	0.000673444	0	0
HBP1	26959	broad.mit.edu	37	7	106829856	106829856	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:106829856G>C	ENST00000222574.4	+	7	1071	c.885G>C	c.(883-885)gaG>gaC	p.E295D	HBP1_ENST00000468410.1_Missense_Mutation_p.E295D|HBP1_ENST00000461963.1_Intron|HBP1_ENST00000485846.1_Missense_Mutation_p.E295D	NM_012257.3	NP_036389.2	O60381	HBP1_HUMAN	HMG-box transcription factor 1	295	AXH.				cell cycle arrest|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	DNA binding			large_intestine(4)|lung(3)|prostate(1)|skin(2)	10						TTACCGTAGAGTGTAAGCTGG	0.338000													10	72					0	0	0.00136819	0	0
DDX39B	7919	broad.mit.edu	37	6	31499098	31499098	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:31499098G>A	ENST00000417556.2	-	9	1627	c.997C>T	c.(997-999)Cac>Tac	p.H333Y	DDX39B_ENST00000458640.1_Missense_Mutation_p.H318Y|DDX39B_ENST00000396172.1_Missense_Mutation_p.H318Y|ATP6V1G2-DDX39B_ENST00000376185.1_3'UTR|DDX39B_ENST00000376177.2_Missense_Mutation_p.H318Y|DDX39B_ENST00000415382.2_Missense_Mutation_p.H240Y			Q13838	DX39B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B	318	Helicase C-terminal.				intronless viral mRNA export from host nucleus|RNA secondary structure unwinding|spliceosome assembly	nuclear speck|spliceosomal complex|transcription export complex	ATP binding|ATP-dependent protein binding|ATP-dependent RNA helicase activity|identical protein binding|U4 snRNA binding|U6 snRNA binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						ATCCCACGGTGGATGGCAATG	0.527000													14	68					0	0	0.000566183	0	0
RND1	27289	broad.mit.edu	37	12	49254900	49254900	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:49254900G>A	ENST00000309739.5	-	4	463	c.333C>T	c.(331-333)atC>atT	p.I111I		NM_014470.3	NP_055285.1	Q92730	RND1_HUMAN	Rho family GTPase 1	111					actin filament organization|axon guidance|negative regulation of cell adhesion|neuron remodeling|small GTPase mediated signal transduction	adherens junction|cytoskeleton|cytosol	GTP binding|GTPase activity|receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(2)|skin(1)|urinary_tract(1)	10						AATAATCTAGGATTTCTGTCC	0.542000													12	40					0	0	0.00136819	0	0
INTU	27152	broad.mit.edu	37	4	128628090	128628090	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:128628090C>T	ENST00000335251.5	+	12	2340	c.2237C>T	c.(2236-2238)tCt>tTt	p.S746F		NM_015693.3	NP_056508.2	Q9ULD6	PDZD6_HUMAN	inturned planar cell polarity protein	746										breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						TCTCAGGGCTCTGATGGTTTA	0.453000													14	54					0	0	0.00400662	0	0
ANAPC4	29945	broad.mit.edu	37	4	25384968	25384968	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:25384968G>A	ENST00000315368.3	+	4	463	c.321G>A	c.(319-321)gaG>gaA	p.E107E	ANAPC4_ENST00000510092.1_Silent_p.E107E	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN	anaphase promoting complex subunit 4	107					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27		Breast(46;0.0503)				TTTCTGTGGAGGCTCCAGTTT	0.348000													19	60					0	0	0.000958276	0	0
SYNE1	23345	broad.mit.edu	37	6	152740785	152740785	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:152740785C>T	ENST00000367255.5	-	40	5941	c.5340G>A	c.(5338-5340)tgG>tgA	p.W1780*	SYNE1_ENST00000423061.1_Nonsense_Mutation_p.W1787*|SYNE1_ENST00000448038.1_Nonsense_Mutation_p.W1787*|SYNE1_ENST00000341594.5_Nonsense_Mutation_p.W1817*|SYNE1_ENST00000265368.4_Nonsense_Mutation_p.W1780*	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1780					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ACAGTTTAATCCAGACAGAAA	0.358000										HNSCC(10;0.0054)			5	22					0	0	0.000602214	0	0
STXBP2	6813	broad.mit.edu	37	19	7706927	7706927	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:7706927G>A	ENST00000441779.2	+	8	656	c.619G>A	c.(619-621)Gag>Aag	p.E207K	CTD-3214H19.4_ENST00000595866.1_3'UTR|STXBP2_ENST00000414284.2_Missense_Mutation_p.E193K|STXBP2_ENST00000221283.5_Missense_Mutation_p.E196K	NM_001272034.1	NP_001258963.1	Q15833	STXB2_HUMAN	syntaxin binding protein 2	196					leukocyte mediated cytotoxicity|neutrophil degranulation|protein transport|regulation of mast cell degranulation|vesicle docking involved in exocytosis	azurophil granule|cytolytic granule|cytosol|specific granule|tertiary granule	syntaxin-3 binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						CAGGGGCCCAGAGGACACAGC	0.667000													16	61					0	0	0.00229938	0	0
PUS10	150962	broad.mit.edu	37	2	61194636	61194636	+	Splice_Site	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:61194636C>T	ENST00000316752.6	-	6	877		c.e6+1		PUS10_ENST00000407787.1_Splice_Site	NM_144709.2	NP_653310.2	Q3MIT2	PUS10_HUMAN	pseudouridylate synthase 10						pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)	22			LUSC - Lung squamous cell carcinoma(5;1.56e-06)|Lung(5;2.48e-05)|Epithelial(17;0.113)			TGACCCAATACCTTTCCATCA	0.363000													64	70					0	0	0.00361006	0	0
ZC3H3	23144	broad.mit.edu	37	8	144550396	144550396	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:144550396G>A	ENST00000262577.5	-	8	2189	c.2158C>T	c.(2158-2160)Cat>Tat	p.H720Y		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	720					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			TTGGACACATGGTGGGAGAAG	0.652000													7	46					0	0	0.000978159	0	0
CECR1	51816	broad.mit.edu	37	22	17669312	17669312	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr22:17669312G>A	ENST00000399839.1	-	7	1268	c.998C>T	c.(997-999)tCc>tTc	p.S333F	CECR1_ENST00000262607.3_Missense_Mutation_p.S333F|CECR1_ENST00000449907.2_Missense_Mutation_p.S291F|CECR1_ENST00000399837.2_Missense_Mutation_p.S333F|CECR1_ENST00000330232.4_Missense_Mutation_p.S92F			Q9NZK5	CECR1_HUMAN	cat eye syndrome chromosome region, candidate 1	333					adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	extracellular space|Golgi apparatus	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				GTCATGCAAGGAGTGGCCAGT	0.612000													9	39					0	0	0.000978159	0	0
PRKAG3	53632	broad.mit.edu	37	2	219694767	219694767	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:219694767C>T	ENST00000439262.2	-	4	587	c.492G>A	c.(490-492)caG>caA	p.Q164Q	PRKAG3_ENST00000392098.3_Silent_p.Q189Q|PRKAG3_ENST00000529249.1_Silent_p.Q189Q|PRKAG3_ENST00000545803.1_Silent_p.Q5Q	NM_017431.2	NP_059127.2	Q9UGI9	AAKG3_HUMAN	protein kinase, AMP-activated, gamma 3 non-catalytic subunit	189					cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation	cytosol	AMP-activated protein kinase activity|protein kinase binding			large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGGTGTGCTCCTGCATGAAGC	0.612000													9	30					0	0	0.000673444	0	0
UNC45B	146862	broad.mit.edu	37	17	33495250	33495250	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:33495250C>T	ENST00000268876.5	+	10	1419	c.1322C>T	c.(1321-1323)gCc>gTc	p.A441V	UNC45B_ENST00000433649.1_Missense_Mutation_p.A441V|UNC45B_ENST00000394570.2_Missense_Mutation_p.A441V|UNC45B_ENST00000378449.1_Missense_Mutation_p.A441V|UNC45B_ENST00000591048.1_Missense_Mutation_p.A441V	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	441					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				CAGCTGGTGGCCGTGGAGGCC	0.582000													9	37					0	0	0.000673444	0	0
PLCE1	51196	broad.mit.edu	37	10	96006212	96006212	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:96006212G>A	ENST00000260766.3	+	8	3564	c.2930G>A	c.(2929-2931)gGg>gAg	p.G977E	PLCE1_ENST00000371385.3_Missense_Mutation_p.G669E|PLCE1_ENST00000371380.2_Missense_Mutation_p.G977E|PLCE1_ENST00000371375.1_Missense_Mutation_p.G669E	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	977					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TTGCTCTATGGGCTTCAGACC	0.468000													19	52					0	0	0.00229938	0	0
UBE2U	148581	broad.mit.edu	37	1	64672524	64672524	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:64672524C>T	ENST00000371077.4	+	3	650	c.226C>T	c.(226-228)Ccg>Tcg	p.P76S	UBE2U_ENST00000371076.3_Missense_Mutation_p.P76S			Q5VVX9	UBE2U_HUMAN	ubiquitin-conjugating enzyme E2U (putative)	76							ATP binding|protein binding|ubiquitin-protein ligase activity			large_intestine(3)|lung(2)|skin(1)	6						TATAACAATTCCGTTTCATCC	0.289000													9	47					0	0	0.000442599	0	0
STAB2	55576	broad.mit.edu	37	12	104100610	104100610	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:104100610A>C	ENST00000388887.2	+	38	4241	c.4037A>C	c.(4036-4038)cAg>cCg	p.Q1346P		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	1346	Laminin EGF-like 1.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CCCCAATGCCAGCCCTGCCCA	0.547000													9	31					0	0	0.00185496	0	0
TEX15	56154	broad.mit.edu	37	8	30694423	30694423	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:30694423C>T	ENST00000256246.2	-	3	8302	c.8228G>A	c.(8227-8229)cGg>cAg	p.R2743Q		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2743										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		AATTGGCTGCCGAAAATTAGA	0.408000													17	54					0	0	0.00074312	0	0
CLEC4C	170482	broad.mit.edu	37	12	7883484	7883484	+	Silent	SNP	T	T	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:7883484T>G	ENST00000542353.1	-	6	896	c.406A>C	c.(406-408)Aga>Cga	p.R136R	CLEC4C_ENST00000360345.3_Silent_p.R136R|CLEC4C_ENST00000354629.5_Silent_p.R105R|CLEC4C_ENST00000540085.1_Silent_p.R105R	NM_130441.2	NP_569708.1	Q8WTT0	CLC4C_HUMAN	C-type lectin domain family 4, member C	136	C-type lectin.				innate immune response	integral to membrane	sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				Kidney(36;0.0915)		GAAGAATTTCTTTTCAGATTC	0.453000													12	47					0	0	0.00244969	0	0
IL20RA	53832	broad.mit.edu	37	6	137338107	137338107	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:137338107G>A	ENST00000367748.1	-	2	654	c.68C>T	c.(67-69)tCa>tTa	p.S23L	IL20RA_ENST00000367746.3_Silent_p.F74F|IL20RA_ENST00000316649.5_Silent_p.F74F|IL20RA_ENST00000468393.1_5'UTR|IL20RA_ENST00000541547.1_Silent_p.F25F			Q9UHF4	I20RA_HUMAN	interleukin 20 receptor, alpha	134						integral to membrane	receptor activity			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)		AAACTTACATGAAATACTGCA	0.373000													16	42					0	0	0.00074312	0	0
CST4	1472	broad.mit.edu	37	20	23667728	23667728	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:23667728C>T	ENST00000217423.3	-	2	409	c.339G>A	c.(337-339)caG>caA	p.Q113Q		NM_001899.2	NP_001890.1	P01036	CYTS_HUMAN	cystatin S	113						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	16	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)					AACGTACCTTCTGCAGTTCTG	0.567000													14	70					0	0	0.00152264	0	0
NPAP1	23742	broad.mit.edu	37	15	24923762	24923762	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:24923762G>A	ENST00000329468.2	+	1	3222	c.2748G>A	c.(2746-2748)ctG>ctA	p.L916L		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		CTTTTATTCTGGGGAATCCAG	0.478000													34	64					0	0	0.00375469	0	0
SLC24A3	57419	broad.mit.edu	37	20	19665909	19665909	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:19665909G>A	ENST00000328041.6	+	12	1425	c.1228G>A	c.(1228-1230)Gaa>Aaa	p.E410K		NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	410						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GGCTGGCAACGAAACAgagaa	0.537000													7	30					0	0	0.00198382	0	0
SORL1	6653	broad.mit.edu	37	11	121491895	121491895	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:121491895C>T	ENST00000260197.7	+	44	6141	c.6012C>T	c.(6010-6012)atC>atT	p.I2004I	SORL1_ENST00000532694.1_Silent_p.I850I|SORL1_ENST00000525532.1_Silent_p.I948I|SORL1_ENST00000527934.1_Silent_p.I619I|SORL1_ENST00000534286.1_Silent_p.I914I	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	2004	Fibronectin type-III 5.				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)		AATACCACATCATTGTCCAAC	0.458000													31	28					0	0	0.0024448	0	0
SLC35G6	643664	broad.mit.edu	37	17	7386304	7386304	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:7386304G>A	ENST00000412468.2	+	2	1116	c.1001G>A	c.(1000-1002)gGg>gAg	p.G334E	ZBTB4_ENST00000311403.4_Intron	NM_001102614.1	NP_001096084.1	P0C7Q6	AMCL3_HUMAN	solute carrier family 35, member G6	334						integral to membrane											GAGAGGGAAGGGAAGGTGGAG	0.562000													6	19					0	0	0.00307968	0	0
SEPP1	6414	broad.mit.edu	37	5	42801366	42801366	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:42801366G>A	ENST00000514985.1	-	5	858	c.602C>T	c.(601-603)cCa>cTa	p.P201L	SEPP1_ENST00000509276.1_5'UTR|SEPP1_ENST00000506577.1_Missense_Mutation_p.P201L|SEPP1_ENST00000511224.1_Missense_Mutation_p.P201L|SEPP1_ENST00000507920.1_Missense_Mutation_p.H91Y|CCDC152_ENST00000361970.5_3'UTR	NM_005410.2	NP_005401.3	P49908	SEPP1_HUMAN	selenoprotein P, plasma, 1	201					response to oxidative stress	extracellular region	selenium binding			kidney(10)|large_intestine(1)|lung(4)	15						ATGAGGCGATGGAGTTTCAAC	0.403000													22	118					0	0	0.00229938	0	0
EPHA6	285220	broad.mit.edu	37	3	96706446	96706446	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:96706446G>A	ENST00000389672.5	+	3	761	c.723G>A	c.(721-723)aaG>aaA	p.K241K	EPHA6_ENST00000542517.1_Silent_p.K147K|EPHA6_ENST00000470610.2_Silent_p.K241K	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	146						integral to plasma membrane	ATP binding|ephrin receptor activity			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						AGTATACAAAGATCGACACAA	0.418000													12	96					0	0	0.00316338	0	0
DPYD	1806	broad.mit.edu	37	1	98060651	98060651	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:98060651C>T	ENST00000370192.3	-	9	1022	c.922G>A	c.(922-924)Gac>Aac	p.D308N		NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	308					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	GGCAAAAAGTCTTTGGATGTA	0.333000													25	61					0	0	0.0024448	0	0
ZFAT	57623	broad.mit.edu	37	8	135602517	135602517	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:135602517G>A	ENST00000520727.1	-	9	2820	c.2521C>T	c.(2521-2523)Cat>Tat	p.H841Y	ZFAT_ENST00000517307.1_5'UTR|ZFAT_ENST00000429442.2_Missense_Mutation_p.H841Y|ZFAT_ENST00000520214.1_Missense_Mutation_p.H841Y|ZFAT_ENST00000377838.3_Missense_Mutation_p.H853Y|ZFAT_ENST00000523399.1_Missense_Mutation_p.H791Y|ZFAT_ENST00000520356.1_Missense_Mutation_p.H841Y	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	853					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			TTACCAGGATGGTTGGTCTTG	0.308000													25	135					0	0	0.00332997	0	0
SLC38A9	153129	broad.mit.edu	37	5	54923757	54923757	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:54923757G>A	ENST00000396865.2	-	15	2073	c.1482C>T	c.(1480-1482)atC>atT	p.I494I	SLC38A9_ENST00000318672.3_Silent_p.I494I|SLC38A9_ENST00000515629.1_Silent_p.I431I|SLC38A9_ENST00000539768.1_3'UTR|SLC38A9_ENST00000416547.2_Silent_p.I370I|SLC38A9_ENST00000512595.1_Silent_p.I431I	NM_173514.3	NP_775785.2	Q8NBW4	S38A9_HUMAN	solute carrier family 38, member 9	494					amino acid transport|sodium ion transport	integral to membrane				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8		Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181)				AACAGGCCATGATCACTCCAG	0.378000													12	43					0	0	0.00400662	0	0
ADGRG1	9289	broad.mit.edu	37	16	57685217	57685217	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:57685217C>T	ENST00000562631.1	+	3	702	c.170C>T	c.(169-171)tCc>tTc	p.S57F	GPR56_ENST00000568909.1_Missense_Mutation_p.S57F|GPR56_ENST00000379694.4_Intron|GPR56_ENST00000567835.1_Missense_Mutation_p.S57F|GPR56_ENST00000564912.1_3'UTR|GPR56_ENST00000544297.1_5'UTR|GPR56_ENST00000562558.1_Missense_Mutation_p.S57F|GPR56_ENST00000540164.2_Missense_Mutation_p.S57F|GPR56_ENST00000379696.3_Missense_Mutation_p.S57F|GPR56_ENST00000538815.1_Missense_Mutation_p.S57F|GPR56_ENST00000456916.1_Missense_Mutation_p.S57F|GPR56_ENST00000568908.1_Missense_Mutation_p.S57F|GPR56_ENST00000388812.4_Missense_Mutation_p.S57F|GPR56_ENST00000388813.5_Missense_Mutation_p.S57F			Q9Y653	GPR56_HUMAN	G protein-coupled receptor 56	57					brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity			kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	15						CTGCGCATCTCCATCGAGAAC	0.622000													9	37					0	0	0.000442599	0	0
KCNJ1	3758	broad.mit.edu	37	11	128709697	128709697	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:128709697C>T	ENST00000392665.2	-	2	586	c.442G>A	c.(442-444)Gga>Aga	p.G148R	KCNJ1_ENST00000324036.3_Missense_Mutation_p.G148R|KCNJ1_ENST00000440599.2_Missense_Mutation_p.G148R|KCNJ1_ENST00000392666.1_Missense_Mutation_p.G148R|KCNJ1_ENST00000392664.2_Missense_Mutation_p.G167R	NM_153764.2	NP_722448.1	P48048	IRK1_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 1	167					excretion	voltage-gated potassium channel complex	ATP binding|inward rectifier potassium channel activity			breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124)	ATTATAACTCCAAGTATAGAC	0.438000													18	51					0	0	0.00121646	0	0
HNRNPCL1	343069	broad.mit.edu	37	1	12907990	12907990	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:12907990G>A	ENST00000317869.6	-	2	378	c.153C>T	c.(151-153)ggC>ggT	p.G51G		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1			heterogeneous nuclear ribonucleoprotein C-like 1											NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						CGAAGGCAAAGCCCTTATGAA	0.458000													6	53					0	0	0.00116845	0	0
GIMAP1	170575	broad.mit.edu	37	7	150416146	150416146	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:150416146G>A	ENST00000307194.5	+	2	151	c.11G>A	c.(10-12)aGg>aAg	p.R4K		NM_130759.3	NP_570115.1			GTPase, IMAP family member 1											NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ATGGGAGGAAGGAAGATGGCG	0.408000													8	61					0	0	0.000442599	0	0
CAPSL	133690	broad.mit.edu	37	5	35921110	35921110	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:35921110G>A	ENST00000397367.2	-	2	239	c.113C>T	c.(112-114)tCt>tTt	p.S38F	CAPSL_ENST00000514524.1_Missense_Mutation_p.S38F|CAPSL_ENST00000397366.1_Missense_Mutation_p.S38F	NM_144647.3	NP_653248.3	Q8WWF8	CAPSL_HUMAN	calcyphosine-like	38						cytoplasm	calcium ion binding			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			GATCCCAGCAGAGCCCCTGGC	0.602000													4	35					0	0	0.00116845	0	0
ATP2C2	9914	broad.mit.edu	37	16	84472844	84472844	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:84472844G>A	ENST00000416219.2	+	12	1148	c.1059G>A	c.(1057-1059)cgG>cgA	p.R353R	ATP2C2_ENST00000262429.4_Silent_p.R353R|ATP2C2_ENST00000420010.2_3'UTR			O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	353					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						GAGTGCTGCGGATGGCCAAGA	0.572000													7	26					0	0	0.00198382	0	0
CYP4A22	284541	broad.mit.edu	37	1	47614403	47614403	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:47614403C>T	ENST00000371891.3	+	12	1525	c.1494C>T	c.(1492-1494)tcC>tcT	p.S498S	CYP4A22_ENST00000485117.1_3'UTR|CYP4A22_ENST00000371890.3_Silent_p.S400S|CYP4A22-AS1_ENST00000444042.2_lincRNA	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	498						endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TGTTGAAATCCAAAAATGGAA	0.587000													7	41					0	0	0.00307968	0	0
KIAA1211L	343990	broad.mit.edu	37	2	99412621	99412621	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:99412621C>T	ENST00000397899.2	-	9	3042	c.2711G>A	c.(2710-2712)gGg>gAg	p.G904E		NM_207362.2	NP_997245.2			KIAA1211-like																		TCTTTGCAGCCCCTCCTTGAA	0.488000													54	68					0	0	0.00361006	0	0
ACTG1	71	broad.mit.edu	37	17	79479287	79479287	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:79479287G>A	ENST00000575842.1	-	1	520	c.94C>T	c.(94-96)Cct>Tct	p.P32S	ACTG1_ENST00000573283.1_Missense_Mutation_p.P32S|ACTG1_ENST00000575087.1_Missense_Mutation_p.P32S|ACTG1_ENST00000331925.2_Missense_Mutation_p.P32S			P63261	ACTG_HUMAN	actin, gamma 1	32					adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1)	29	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)			ACGATGGAAGGAAACACGGCT	0.657000													21	24					0	0	0.00229938	0	0
BPIFB4	149954	broad.mit.edu	37	20	31671441	31671441	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:31671441G>A	ENST00000375483.3	+	3	438	c.438G>A	c.(436-438)agG>agA	p.R146R		NM_182519.2	NP_872325.2	P59827	LPLC4_HUMAN	BPI fold containing family B, member 4	146	Gly-rich.					cytoplasm|extracellular region	lipid binding										CTGTGGGCAGGCTTCACCGGC	0.642000													10	42					0	0	0.000978159	0	0
SPATA31C1	441452	broad.mit.edu	37	9	90535945	90535945	+	RNA	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:90535945C>T	ENST00000602681.1	+	0	1849																											TCCTGCTTTTCTATCCCCGAT	0.517000													27	95					0	0	0.00321405	0	0
FBN3	84467	broad.mit.edu	37	19	8183802	8183802	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:8183802C>T	ENST00000600128.1	-	26	3730	c.3316G>A	c.(3316-3318)Gcc>Acc	p.A1106T	FBN3_ENST00000601739.1_Missense_Mutation_p.A1106T|FBN3_ENST00000270509.2_Missense_Mutation_p.A1106T			Q75N90	FBN3_HUMAN	fibrillin 3	1106	EGF-like 14; 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						GTGCCCTTGGCCGTCAGCTCA	0.597000													4	28					0	0	0.00024832	0	0
CLEC4M	10332	broad.mit.edu	37	19	7830542	7830542	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:7830542C>T	ENST00000327325.5	+	4	351	c.233C>T	c.(232-234)tCc>tTc	p.S78F	CLEC4M_ENST00000394122.2_Missense_Mutation_p.S66F|CLEC4M_ENST00000359059.5_Missense_Mutation_p.S57F|CLEC4M_ENST00000597522.1_Missense_Mutation_p.S78F|CLEC4M_ENST00000596363.1_Missense_Mutation_p.S50F|CLEC4M_ENST00000357361.2_Missense_Mutation_p.S78F|CLEC4M_ENST00000248228.4_Missense_Mutation_p.S78F|CLEC4M_ENST00000595496.1_Missense_Mutation_p.S57F|CLEC4M_ENST00000596707.1_Missense_Mutation_p.S57F|CLEC4M_ENST00000334806.5_Missense_Mutation_p.S50F	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M	78					cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						GTCCCCAGCTCCCTAAGTCAG	0.507000													14	55					0	0	0.000566183	0	0
CBFA2T2	9139	broad.mit.edu	37	20	32224460	32224460	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:32224460T>C	ENST00000346541.3	+	10	1807	c.1270T>C	c.(1270-1272)Ttc>Ctc	p.F424L	CBFA2T2_ENST00000397800.1_Missense_Mutation_p.F395L|CBFA2T2_ENST00000359606.3_Missense_Mutation_p.F434L|CBFA2T2_ENST00000375279.2_Missense_Mutation_p.F424L|CBFA2T2_ENST00000342704.5_Missense_Mutation_p.F415L|CBFA2T2_ENST00000491618.1_3'UTR	NM_005093.3	NP_005084.1	O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 2	424						nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						TCAGAGAGAGTTCAACAGCAG	0.403000													42	170					0	0	0.00361006	0	0
MUC5B	727897	broad.mit.edu	37	11	1251278	1251278	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:1251278C>T	ENST00000447027.1	+	11	1331	c.1273C>T	c.(1273-1275)Cct>Tct	p.P425S	MUC5B_ENST00000529681.1_Missense_Mutation_p.P422S			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	422	VWFD 2.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCTGCCGTGCCCTGGCACCTG	0.652000													4	16					0	0	0.00024832	0	0
TRIM39	56658	broad.mit.edu	37	6	30309717	30309717	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:30309717C>T	ENST00000376659.5	+	8	1746	c.1148C>T	c.(1147-1149)tCc>tTc	p.S383F	TRIM39-RPP21_ENST00000513556.1_Intron|TRIM39_ENST00000376656.4_Missense_Mutation_p.S413F|TRIM39_ENST00000540416.1_Missense_Mutation_p.S383F|TRIM39_ENST00000396551.3_Missense_Mutation_p.S383F|TRIM39_ENST00000396548.1_Missense_Mutation_p.S383F|TRIM39_ENST00000396547.1_Missense_Mutation_p.S413F	NM_172016.2	NP_742013.1			tripartite motif containing 39											ovary(3)	3						TGCCGGGACTCCGTGAGCCGA	0.602000													5	33					0	0	0.000602214	0	0
GIMAP2	26157	broad.mit.edu	37	7	150389490	150389490	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:150389490G>A	ENST00000223293.5	+	3	210	c.116G>A	c.(115-117)gGg>gAg	p.G39E		NM_015660.2	NP_056475.1	Q9UG22	GIMA2_HUMAN	GTPase, IMAP family member 2	39						integral to membrane	GTP binding			kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGTGCTGCAGGGAACAGCATC	0.512000													4	25					0	0	0.00024832	0	0
EFTUD2	9343	broad.mit.edu	37	17	42937815	42937815	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:42937815G>A	ENST00000426333.2	-	17	2001	c.1704C>T	c.(1702-1704)ccC>ccT	p.P568P	EFTUD2_ENST00000591382.1_Silent_p.P568P|EFTUD2_ENST00000402521.3_Silent_p.P533P|EFTUD2_ENST00000592576.1_Silent_p.P558P	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	568						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				CATTGCCTCGGGGTTCGGTTA	0.502000													12	50					0	0	0.00185496	0	0
COL12A1	1303	broad.mit.edu	37	6	75801230	75801230	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:75801230C>T	ENST00000322507.8	-	61	8970	c.8661G>A	c.(8659-8661)ggG>ggA	p.G2887G	COL12A1_ENST00000511023.1_5'UTR|COL12A1_ENST00000483888.2_Silent_p.G2883G|COL12A1_ENST00000416123.2_Silent_p.G2811G|COL12A1_ENST00000345356.6_Silent_p.G1723G	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2887	Triple-helical region (COL2) with 1 imperfection.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CTCCTTTCAACCCAGATGGAC	0.299000													22	76					0	0	0.000720815	0	0
MROH7	374977	broad.mit.edu	37	1	55119556	55119556	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:55119556C>T	ENST00000414150.2	+	3	1235	c.957C>T	c.(955-957)tcC>tcT	p.S319S	MROH7_ENST00000421030.2_Silent_p.S319S|MROH7_ENST00000339553.5_Silent_p.S319S|MROH7_ENST00000454855.2_Intron|MROH7_ENST00000472987.1_3'UTR|MROH7_ENST00000545244.1_Intron|MROH7_ENST00000409996.1_Intron|MROH7_ENST00000395690.2_Silent_p.S319S					maestro heat-like repeat family member 7																		AGCCCAACTCCACCATCTCTC	0.557000													7	42					0	0	0.000673444	0	0
IL31RA	133396	broad.mit.edu	37	5	55212650	55212650	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:55212650G>A	ENST00000396834.1	+	17	2436	c.1940G>A	c.(1939-1941)gGg>gAg	p.G647E	IL31RA_ENST00000447346.2_Missense_Mutation_p.G666E|IL31RA_ENST00000490985.1_Missense_Mutation_p.G524E|IL31RA_ENST00000359040.5_Missense_Mutation_p.G666E|IL31RA_ENST00000354961.4_Missense_Mutation_p.G647E	NM_001242638.1	NP_001229567.1	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	634					anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				AATTTAGGAGGGGAAAAGAAT	0.473000													10	24					0	0	0.000442599	0	0
TBC1D14	57533	broad.mit.edu	37	4	7000918	7000918	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:7000918C>T	ENST00000409757.4	+	6	1276	c.1152C>T	c.(1150-1152)aaC>aaT	p.N384N	TBC1D14_ENST00000410031.1_Silent_p.N156N|TBC1D14_ENST00000446947.2_5'UTR|TBC1D14_ENST00000451522.2_Silent_p.N104N|TBC1D14_ENST00000448507.1_Silent_p.N384N	NM_020773.2	NP_065824.2	Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14	384						intracellular	Rab GTPase activator activity			breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						TCTTACCTAACTGGGAAACAA	0.493000													11	51					0	0	0.00185496	0	0
NDUFS6	4726	broad.mit.edu	37	5	1815981	1815981	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:1815981C>T	ENST00000274137.5	+	4	344	c.326C>T	c.(325-327)aCc>aTc	p.T109I		NM_004553.4	NP_004544.1	O75380	NDUS6_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase)	109					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	electron carrier activity|NADH dehydrogenase (ubiquinone) activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	7					NADH(DB00157)	GAAACAAAAACCGGCACATGC	0.448000													16	60					0	0	0.00400662	0	0
SLC6A3	6531	broad.mit.edu	37	5	1441563	1441563	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:1441563C>T	ENST00000270349.9	-	3	456	c.329G>A	c.(328-330)gGg>gAg	p.G110E	SLC6A3_ENST00000453492.2_Missense_Mutation_p.G110E	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	110					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	AAGTGGCATCCCAGCAATGAC	0.572000													8	26					0	0	0.000442599	0	0
OAS2	4939	broad.mit.edu	37	12	113425085	113425085	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:113425085C>T	ENST00000392583.2	+	2	627	c.420C>T	c.(418-420)ttC>ttT	p.F140F	OAS2_ENST00000449768.2_Silent_p.F140F|OAS2_ENST00000342315.4_Silent_p.F140F|RP1-71H24.1_ENST00000552784.1_RNA	NM_002535.2	NP_002526.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	140	OAS domain 1.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						GAATCTCTTTCGAGGTGCTGG	0.493000													10	35					0	0	0.00185496	0	0
TRIML1	339976	broad.mit.edu	37	4	189060821	189060821	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:189060821C>T	ENST00000332517.3	+	1	249	c.109C>T	c.(109-111)Ctg>Ttg	p.L37L		NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	37					multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		CAGCTTTTGTCTGGTGTGTCT	0.532000													9	88					0	0	0.000978159	0	0
GPT	2875	broad.mit.edu	37	8	145731462	145731462	+	Missense_Mutation	SNP	G	G	A	rs145365806		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:145731462G>A	ENST00000394955.2	+	7	1127	c.904G>A	c.(904-906)Ggg>Agg	p.G302R	GPT_ENST00000528431.1_Missense_Mutation_p.G302R	NM_005309.2	NP_005300.1	P24298	ALAT1_HUMAN	glutamic-pyruvate transaminase (alanine aminotransferase)	302					gluconeogenesis	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	GCCCTACGCCGGGCAGCAGGA	0.667000													13	17					0	0	0.00185496	0	0
PLXNA2	5362	broad.mit.edu	37	1	208217962	208217962	+	Silent	SNP	G	G	A	rs139061737		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:208217962G>A	ENST00000367033.3	-	20	4522	c.3765C>T	c.(3763-3765)atC>atT	p.I1255I		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1255					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)		CAATGAGGACGATGATGACGA	0.582000													7	44					0	0	0.00307968	0	0
PPBP	5473	broad.mit.edu	37	4	74853054	74853054	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:74853054G>A	ENST00000296028.3	-	3	415	c.322C>T	c.(322-324)Cca>Tca	p.P108S		NM_002704.3	NP_002695.1	P02775	CXCL7_HUMAN	pro-platelet basic protein (chemokine (C-X-C motif) ligand 7)	108					chemotaxis|defense response to bacterium|immune response|platelet activation|platelet degranulation|positive regulation of cell division	extracellular space|platelet alpha granule lumen	chemokine activity|glucose transmembrane transporter activity|growth factor activity			breast(1)|central_nervous_system(1)|lung(1)|ovary(2)|skin(2)|stomach(1)|urinary_tract(2)	10	Breast(15;0.00136)		all cancers(17;0.00273)|Lung(101;0.196)			GGAGCATCTGGGTCCAGGCAG	0.423000													7	41					0	0	0.00198382	0	0
FCRLB	127943	broad.mit.edu	37	1	161692490	161692490	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:161692490C>T	ENST00000367948.2	+	3	243	c.28C>T	c.(28-30)Ctg>Ttg	p.L10L	FCRLB_ENST00000392158.1_Silent_p.L10L|FCRLB_ENST00000367944.3_Silent_p.L10L|FCRLB_ENST00000367945.1_Silent_p.L10L|FCRLB_ENST00000367946.3_Silent_p.L10L|FCRLB_ENST00000336830.5_Silent_p.L10L			Q6BAA4	FCRLB_HUMAN	Fc receptor-like B	10						endoplasmic reticulum				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|skin(1)	17	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			CCTTCTGCTCCTGGGTGAGTC	0.542000													40	51					0	0	0.00285205	0	0
CIT	11113	broad.mit.edu	37	12	120151339	120151339	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:120151339G>A	ENST00000392521.2	-	34	4476	c.4421C>T	c.(4420-4422)tCc>tTc	p.S1474F	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000261833.7_Missense_Mutation_p.S1432F	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	1432	PH.				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity	p.S1432F(1)|p.S1460F(1)		breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		GAGACCTGGGGAGTTCATTTT	0.602000													7	25					0	0	0.000442599	0	0
SRSF3	6428	broad.mit.edu	37	6	36566732	36566732	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:36566732C>T	ENST00000373715.6	+	3	429	c.313C>T	c.(313-315)Cgt>Tgt	p.R105C	SRSF3_ENST00000339436.7_Missense_Mutation_p.R105C	NM_003017.4	NP_003008.1	P84103	SRSF3_HUMAN	serine/arginine-rich splicing factor 3	105	Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(2)	7						AGATGATTATCGTAGGAGGAG	0.488000													18	107					0	0	0.00121646	0	0
MAN1C1	57134	broad.mit.edu	37	1	26110160	26110160	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:26110160C>T	ENST00000374332.4	+	12	2103	c.1773C>T	c.(1771-1773)ctC>ctT	p.L591L	MAN1C1_ENST00000263979.3_Silent_p.L411L|MAN1C1_ENST00000374329.1_Silent_p.L362L	NM_020379.2	NP_065112.1	Q9NR34	MA1C1_HUMAN	mannosidase, alpha, class 1C, member 1	591					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		ACAGGTATCTCTATCTTCTGT	0.582000													13	31					0	0	0.00185496	0	0
PRX	57716	broad.mit.edu	37	19	40900064	40900064	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:40900064G>A	ENST00000324001.7	-	7	4465	c.4195C>T	c.(4195-4197)Ccc>Tcc	p.P1399S	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	1399					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GGGGACTTGGGGGCTGCATCG	0.701000													9	20					0	0	0.000673444	0	0
PCOLCE	5118	broad.mit.edu	37	7	100200102	100200102	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:100200102C>T	ENST00000223061.5	+	1	303	c.23C>T	c.(22-24)tCc>tTc	p.S8F	PCOLCE-AS1_ENST00000442166.2_RNA|PCOLCE-AS1_ENST00000544873.1_RNA|PCOLCE_ENST00000496269.1_3'UTR	NM_002593.3	NP_002584.2	Q15113	PCOC1_HUMAN	procollagen C-endopeptidase enhancer	8					multicellular organismal development	extracellular space	collagen binding|heparin binding|peptidase activator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					GCCACAGCCTCCCTCCTGGGG	0.657000													12	59					0	0	0.00136819	0	0
WBSCR28	135886	broad.mit.edu	37	7	73279510	73279510	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:73279510C>T	ENST00000320531.2	+	2	296	c.260C>T	c.(259-261)cCc>cTc	p.P87L		NM_182504.3	NP_872310.2	Q6UE05	WBS28_HUMAN	Williams-Beuren syndrome chromosome region 28	87						integral to membrane				breast(2)|kidney(2)|lung(6)|skin(1)	11		Lung NSC(55;0.159)				ATACAGGTCCCCGTATGGCTG	0.692000													5	40					0	0	0.000602214	0	0
TAS2R31	259290	broad.mit.edu	37	12	11183701	11183701	+	Silent	SNP	T	T	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:11183701T>A	ENST00000390675.2	-	1	305	c.234A>T	c.(232-234)gtA>gtT	p.V78V	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176885.2	NP_795366.2	P59538	T2R31_HUMAN	taste receptor, type 2, member 31	78					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			kidney(1)|lung(6)	7						TTCTTACTTCTACACTATAAA	0.408000													17	95					0	0	0.00400662	0	0
OR9K2	441639	broad.mit.edu	37	12	55523961	55523961	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:55523961G>A	ENST00000305377.5	+	1	497	c.409G>A	c.(409-411)Gga>Aga	p.G137R		NM_001005243.1	NP_001005243.1	Q8NGE7	OR9K2_HUMAN	olfactory receptor, family 9, subfamily K, member 2	137					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						TGTGACTGAGGGATTTCTCCT	0.498000													10	42					0	0	0.000442599	0	0
OR13A1	79290	broad.mit.edu	37	10	45799011	45799011	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:45799011C>T	ENST00000553795.1	-	4	1168	c.860G>A	c.(859-861)gGg>gAg	p.G287E	OR13A1_ENST00000536058.1_Missense_Mutation_p.G287E|OR13A1_ENST00000374401.2_Missense_Mutation_p.G287E	NM_001004297.2	NP_001004297.2	Q8NGR1	O13A1_HUMAN	olfactory receptor, family 13, subfamily A, member 1	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						CTTGCTCTTCCCTGCGCTGTA	0.547000													5	14					0	0	0.000602214	0	0
VIM	7431	broad.mit.edu	37	10	17278314	17278314	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:17278314C>T	ENST00000544301.1	+	9	1708	c.1295C>T	c.(1294-1296)cCt>cTt	p.P432L	VIM_ENST00000224237.5_Missense_Mutation_p.P432L	NM_003380.3	NP_003371.2	P08670	VIME_HUMAN	vimentin	432	Tail.				cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding	cytosol|intermediate filament	protein C-terminus binding|structural constituent of cytoskeleton			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GATTCACTCCCTCTGGTTGAT	0.348000													39	134					0	0	0.00361006	0	0
EPS8L3	79574	broad.mit.edu	37	1	110301868	110301868	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:110301868C>T	ENST00000369805.3	-	5	626	c.397G>A	c.(397-399)Gaa>Aaa	p.E133K	EPS8L3_ENST00000494151.1_5'UTR|RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000361965.4_Missense_Mutation_p.E133K|EPS8L3_ENST00000361852.4_Missense_Mutation_p.E133K	NM_133181.3|NM_139053.2	NP_573444.2|NP_620641.1	Q8TE67	ES8L3_HUMAN	EPS8-like 3	133						cytoplasm	protein binding			breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		ACCCCCACTTCCTGGCACTGG	0.587000													27	70					0	0	0.001512	0	0
ADCY1	107	broad.mit.edu	37	7	45699648	45699648	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:45699648C>T	ENST00000297323.7	+	7	1337	c.1315C>T	c.(1315-1317)Cat>Tat	p.H439Y	ADCY1_ENST00000432715.1_Missense_Mutation_p.H214Y	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	439					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	TAGGAAGGTTCATATCACAAA	0.522000													11	59					0	0	0.000978159	0	0
F5	2153	broad.mit.edu	37	1	169511128	169511128	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:169511128G>A	ENST00000367796.3	-	13	3416	c.3215C>T	c.(3214-3216)tCg>tTg	p.S1072L	F5_ENST00000367797.3_Missense_Mutation_p.S1067L			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1067	B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	AAGCACCAACGAATGCTTAAG	0.438000													18	109					0	0	0.00152264	0	0
TLE6	79816	broad.mit.edu	37	19	2987234	2987234	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:2987234G>A	ENST00000246112.4	+	7	740	c.539G>A	c.(538-540)aGa>aAa	p.R180K	TLE6_ENST00000452088.1_Missense_Mutation_p.R57K|TLE6_ENST00000478073.2_3'UTR	NM_001143986.1	NP_001137458.1	Q9H808	TLE6_HUMAN	transducin-like enhancer of split 6 (E(sp1) homolog, Drosophila)	57					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)		CCCAGAGACAGACGTGAGTGT	0.607000													12	36					0	0	0.00136819	0	0
SERGEF	26297	broad.mit.edu	37	11	17809777	17809777	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:17809777T>A	ENST00000265965.5	-	11	1383	c.1232A>T	c.(1231-1233)gAc>gTc	p.D411V	SERGEF_ENST00000528200.1_3'UTR	NM_012139.2	NP_036271.1	Q9UGK8	SRGEF_HUMAN	secretion regulating guanine nucleotide exchange factor	411					negative regulation of protein secretion|signal transduction	cytoplasm|nucleus	protein binding|Ran guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|central_nervous_system(1)|large_intestine(5)|lung(5)	12						GACCTTGGGGTCCTGGACCAA	0.562000													7	30					0	0	0.00307968	0	0
ING1	3621	broad.mit.edu	37	13	111367821	111367821	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr13:111367821C>T	ENST00000375774.3	+	1	493	c.31C>T	c.(31-33)Cct>Tct	p.P11S	ING1_ENST00000464141.1_3'UTR|ING1_ENST00000338450.7_Intron|ING1_ENST00000333219.7_Intron|ING1_ENST00000375775.3_Intron	NM_005537.4	NP_005528.3	Q9UK53	ING1_HUMAN	inhibitor of growth family, member 1	11					cell cycle|negative regulation of cell growth|negative regulation of cell proliferation	nucleus	zinc ion binding			endometrium(4)|large_intestine(6)|lung(1)|ovary(1)	12	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.188)			TTATCATTCCCCTGCGGAACG	0.507000													23	43					0	0	0.000720815	0	0
ABCB1	5243	broad.mit.edu	37	7	87183229	87183229	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:87183229C>T	ENST00000265724.3	-	10	1264	c.847G>A	c.(847-849)Gaa>Aaa	p.E283K	ABCB1_ENST00000543898.1_Missense_Mutation_p.E219K	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	283	ABC transmembrane type-1 1.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	CTTTTAGCTTCTTCTAAATTT	0.348000													18	95					0	0	0.000958276	0	0
RNF121	55298	broad.mit.edu	37	11	71693837	71693837	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:71693837C>T	ENST00000361756.3	+	4	635	c.274C>T	c.(274-276)Ccc>Tcc	p.P92S	RNF121_ENST00000545854.1_Missense_Mutation_p.P11S|RNF121_ENST00000490867.1_3'UTR|RNF121_ENST00000533380.1_Intron|RNF121_ENST00000530137.1_Missense_Mutation_p.P60S|RNF121_ENST00000393713.3_Missense_Mutation_p.P60S	NM_018320.4	NP_060790.2	Q9H920	RN121_HUMAN	ring finger protein 121	92						integral to membrane	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|urinary_tract(1)	13						GTGGGTTGTTCCCCTCTATTT	0.517000													17	71					0	0	0.00121646	0	0
CSMD2	114784	broad.mit.edu	37	1	34276422	34276422	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:34276422G>A	ENST00000373381.4	-	10	1544	c.1368C>T	c.(1366-1368)atC>atT	p.I456I	CSMD2_ENST00000338325.1_Silent_p.I13I	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	416	CUB 3.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TGGGGGAGGTGATGATGCCCG	0.542000													13	50					0	0	0.00316338	0	0
OR11H4	390442	broad.mit.edu	37	14	20711637	20711637	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:20711637C>T	ENST00000315409.2	+	1	740	c.687C>T	c.(685-687)atC>atT	p.I229I		NM_001004479.1	NP_001004479.1	Q8NGC9	O11H4_HUMAN	olfactory receptor, family 11, subfamily H, member 4	229					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	29	all_cancers(95;0.000888)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)		GATCCTATATCCTGTTACTAA	0.433000													22	73					0	0	0.00229938	0	0
OR7A17	26333	broad.mit.edu	37	19	14991789	14991789	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:14991789A>C	ENST00000327462.2	-	1	475	c.379T>G	c.(379-381)Tgt>Ggt	p.C127G		NM_030901.1	NP_112163.1	O14581	OR7AH_HUMAN	olfactory receptor, family 7, subfamily A, member 17	127					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12	Ovarian(108;0.203)					AGAGGATGACAGATGGCCACA	0.502000													8	31					0	0	0.00307968	0	0
MYO9B	4650	broad.mit.edu	37	19	17213280	17213280	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:17213280C>T	ENST00000595618.1	+	2	905	c.753C>T	c.(751-753)ttC>ttT	p.F251F	MYO9B_ENST00000593411.1_3'UTR|MYO9B_ENST00000594824.1_Silent_p.F251F|MYO9B_ENST00000397274.2_Silent_p.F251F	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN	myosin IXB	251	Myosin head-like.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						GCACCAACTTCCTCATCCACT	0.647000													6	11					0	0	0.00198382	0	0
TAB1	10454	broad.mit.edu	37	22	39814842	39814842	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr22:39814842C>T	ENST00000216160.6	+	6	718	c.656C>T	c.(655-657)tCg>tTg	p.S219L	TAB1_ENST00000331454.3_Missense_Mutation_p.S219L	NM_006116.2	NP_006107.1	Q15750	TAB1_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 1	219	PP2C-like.				activation of MAPK activity|activation of MAPKKK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane	catalytic activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						TTCCGTCTTTCGCAGCTGGGT	0.582000													7	23					0	0	0.00198382	0	0
OR1Q1	158131	broad.mit.edu	37	9	125377471	125377471	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:125377471C>T	ENST00000297913.2	+	1	524	c.455C>T	c.(454-456)tCc>tTc	p.S152F	RP11-64P14.7_ENST00000431442.1_RNA	NM_012364.1	NP_036496.1	Q15612	OR1Q1_HUMAN	olfactory receptor, family 1, subfamily Q, member 1	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	17						CATGCTCTCTCCCACCTTCAT	0.488000													14	25					0	0	0.00400662	0	0
C9	735	broad.mit.edu	37	5	39311419	39311419	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:39311419G>A	ENST00000263408.4	-	7	1026	c.931C>T	c.(931-933)Cgc>Tgc	p.R311C		NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	311	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex		p.R311C(1)		central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			ACAACATCGCGATTTCTCATT	0.363000													12	29					0	0	0.000978159	0	0
CAPN6	827	broad.mit.edu	37	X	110490610	110490610	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:110490610G>A	ENST00000324068.1	-	12	1896	c.1729C>T	c.(1729-1731)Cct>Tct	p.P577S	CAPN6_ENST00000541758.1_Missense_Mutation_p.P322S	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	577	C2.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						ACTATAATAGGAATGTCAGTG	0.428000													26	72					0	0	0.00127121	0	0
PTPRD	5789	broad.mit.edu	37	9	8471025	8471025	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:8471025C>T	ENST00000381196.4	-	28	4017	c.3474G>A	c.(3472-3474)tgG>tgA	p.W1158*	PTPRD_ENST00000355233.5_Nonsense_Mutation_p.W747*|PTPRD_ENST00000537002.1_Nonsense_Mutation_p.W744*|PTPRD_ENST00000397617.3_Nonsense_Mutation_p.W737*|PTPRD_ENST00000360074.4_Nonsense_Mutation_p.W1145*|PTPRD_ENST00000486161.1_Nonsense_Mutation_p.W747*|PTPRD_ENST00000356435.5_Nonsense_Mutation_p.W1158*|PTPRD_ENST00000397606.3_Nonsense_Mutation_p.W737*|PTPRD_ENST00000397611.3_Nonsense_Mutation_p.W744*|PTPRD_ENST00000540109.1_Nonsense_Mutation_p.W1158*|PTPRD_ENST00000358503.5_Nonsense_Mutation_p.W1136*	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1158					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)		CTGGACTCTCCCATGGCTTGA	0.388000										TSP Lung(15;0.13)			21	18					0	0	0.00332997	0	0
EPB42	2038	broad.mit.edu	37	15	43500504	43500504	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:43500504C>T	ENST00000300215.3	-	8	1546	c.1089G>A	c.(1087-1089)tgG>tgA	p.W363*	EPB42_ENST00000441366.2_Nonsense_Mutation_p.W333*|EPB42_ENST00000540029.1_Nonsense_Mutation_p.W255*			P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2	333					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)		GCCGCGTCATCCAGCACTCTG	0.527000													4	19					0	0	0.00024832	0	0
RPLP0P6	220717	broad.mit.edu	37	2	38709350	38709350	+	RNA	SNP	G	G	A	rs11548363		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:38709350G>A	ENST00000417039.1	-	0	696																											TGCCCCATGTGAAGTCACTGT	0.557000													6	8					0	0	0.00116845	0	0
GATA2	2624	broad.mit.edu	37	3	128199904	128199904	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:128199904G>A	ENST00000341105.2	-	6	1732	c.1401C>T	c.(1399-1401)ttC>ttT	p.F467F	GATA2_ENST00000487848.1_Silent_p.F467F|GATA2_ENST00000430265.2_Silent_p.F453F|GATA2_ENST00000489987.1_5'UTR	NM_032638.4	NP_116027.2	P23769	GATA2_HUMAN	GATA binding protein 2	467					blood coagulation|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of Notch signaling pathway|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79				GBM - Glioblastoma multiforme(114;0.173)		GGGGGTGGCCGAAGGAGAGGC	0.672000			Mis		AML(CML blast transformation)								5	22					0	0	0.000602214	0	0
TRHDE	29953	broad.mit.edu	37	12	73056896	73056896	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:73056896C>T	ENST00000261180.4	+	19	3092	c.2996C>T	c.(2995-2997)aCt>aTt	p.T999I		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	999					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	p.T999S(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						GCTGTGGAAACTGTCGAAGCC	0.388000													10	20					0	0	0.000442599	0	0
KMT2E	55904	broad.mit.edu	37	7	104753447	104753447	+	Silent	SNP	A	A	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:104753447A>G	ENST00000334877.4	+	26	5652	c.5118A>G	c.(5116-5118)ccA>ccG	p.P1706P	KMT2E_ENST00000257745.4_Silent_p.P1748P|SRPK2_ENST00000493638.1_Intron|KMT2E_ENST00000311117.3_Silent_p.P1748P					lysine (K)-specific methyltransferase 2E																		AAGGACCTCCACTTTTTCCTT	0.562000													11	87					0	0	0.00316338	0	0
NPSR1	387129	broad.mit.edu	37	7	34851456	34851456	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:34851456C>T	ENST00000360581.1	+	4	587	c.459C>T	c.(457-459)ccC>ccT	p.P153P	NPSR1_ENST00000381539.3_Silent_p.P153P|NPSR1_ENST00000381542.1_Intron|NPSR1_ENST00000359791.1_Silent_p.P153P|NPSR1_ENST00000531252.1_Silent_p.P142P	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	153						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	TCGTCTACCCCATGAAGTTCC	0.463000													21	84					0	0	0.000720815	0	0
HIVEP1	3096	broad.mit.edu	37	6	12164072	12164072	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:12164072C>T	ENST00000379388.2	+	9	7867	c.7535C>T	c.(7534-7536)cCa>cTa	p.P2512L	HIVEP1_ENST00000541134.1_Missense_Mutation_p.P377L	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	2512					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CAAGTCCATCCACCAGGACTG	0.537000													26	34					0	0	0.00209593	0	0
MED14	9282	broad.mit.edu	37	X	40534535	40534535	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:40534535G>A	ENST00000324817.1	-	22	3077	c.2959C>T	c.(2959-2961)Cct>Tct	p.P987S	MED14_ENST00000496531.1_5'UTR	NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	987					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCTCCTATAGGAGAAGGGGGA	0.428000													10	22					0	0	0.000442599	0	0
CPNE9	151835	broad.mit.edu	37	3	9759841	9759841	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:9759841G>A	ENST00000383832.3	+	16	1250	c.1060G>A	c.(1060-1062)Ggc>Agc	p.G354S	CPNE9_ENST00000383831.3_Missense_Mutation_p.G354S	NM_153635.2	NP_705899.2	Q8IYJ1	CPNE9_HUMAN	copine family member IX	354	VWFA.									breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16	Medulloblastoma(99;0.227)					CCCAGCTTATGGCTTTGGGGC	0.582000													11	13					0	0	0.00136819	0	0
AGAP11	119385	broad.mit.edu	37	10	88768736	88768736	+	RNA	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:88768736C>T	ENST00000444431.1	+	0	3336				RP11-96C23.14_ENST00000444180.3_RNA|RP11-96C23.5_ENST00000433214.2_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										GCCCCCCTCCCCTCATGCCAA	0.488000													5	57					0	0	0.00307968	0	0
PITPNM3	83394	broad.mit.edu	37	17	6376061	6376061	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:6376061C>T	ENST00000262483.8	-	11	1432	c.1345G>A	c.(1345-1347)Gag>Aag	p.E449K	ACKR6_ENST00000421306.3_Missense_Mutation_p.E413K|ACKR6_ENST00000576664.1_5'UTR	NM_031220.3	NP_112497.2																					AACTTGGGCTCCAGCAGTGGC	0.652000													7	18					0	0	0.000274275	0	0
CILP2	148113	broad.mit.edu	37	19	19655346	19655346	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:19655346G>A	ENST00000586018.1	+	8	2112	c.2010G>A	c.(2008-2010)cgG>cgA	p.R670R	CILP2_ENST00000291495.4_Silent_p.R664R			Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	664						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						TGGCCGTGCGGGTGGCCGCCA	0.711000													4	12					0	0	0.00024832	0	0
CACNA1S	779	broad.mit.edu	37	1	201031122	201031122	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:201031122G>A	ENST00000362061.3	-	24	3229	c.3003C>T	c.(3001-3003)ctC>ctT	p.L1001L	CACNA1S_ENST00000367338.3_Silent_p.L1001L	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1001	Dihydropyridine binding (By similarity).				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TCATGGCTGAGAGCACATTGT	0.582000													6	16					0	0	0.00307968	0	0
MYH8	4626	broad.mit.edu	37	17	10302164	10302164	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:10302164A>T	ENST00000403437.2	-	29	3996	c.3902T>A	c.(3901-3903)gTc>gAc	p.V1301D	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1301					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						AAGCTGAGAGACTAAAGCATC	0.358000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				18	51					0	0	0.00121646	0	0
NUP98	4928	broad.mit.edu	37	11	3704564	3704564	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:3704564G>A	ENST00000324932.7	-	30	5204	c.4784C>T	c.(4783-4785)cCt>cTt	p.P1595L	NUP98_ENST00000359171.4_Missense_Mutation_p.P1521L|NUP98_ENST00000355260.3_Missense_Mutation_p.P1521L	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	1612					carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		CCATTTGGCAGGTACACGGAG	0.537000			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML								20	54					0	0	0.00278032	0	0
KCNA10	3744	broad.mit.edu	37	1	111060332	111060332	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:111060332C>T	ENST00000369771.2	-	1	1465	c.1078G>A	c.(1078-1080)Ggg>Agg	p.G360R		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	360						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		ATCTGCAGCCCCTTGGAGTGG	0.572000													9	37					0	0	0.00136819	0	0
OCIAD1	54940	broad.mit.edu	37	4	48844704	48844704	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:48844704A>T	ENST00000425583.2	+	4	466	c.191A>T	c.(190-192)aAa>aTa	p.K64I	OCIAD1_ENST00000396448.2_Missense_Mutation_p.K64I|OCIAD1_ENST00000512981.1_3'UTR|OCIAD1_ENST00000264312.7_Missense_Mutation_p.K64I|OCIAD1_ENST00000381473.3_Missense_Mutation_p.K64I|OCIAD1_ENST00000444354.2_Missense_Mutation_p.K64I|OCIAD1_ENST00000508293.1_Missense_Mutation_p.K64I|OCIAD1_ENST00000509122.1_Missense_Mutation_p.K37I|OCIAD1_ENST00000513391.2_Missense_Mutation_p.K64I|OCIAD1_ENST00000506801.1_Missense_Mutation_p.K10I	NM_001079842.2	NP_001073311.2	Q9NX40	OCAD1_HUMAN	OCIA domain containing 1	64	OCIA.					endosome	protein binding			breast(2)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	9						TTAATTAGTAAAGGTAAATAT	0.279000													11	75					0	0	0.000978159	0	0
KALRN	8997	broad.mit.edu	37	3	124103814	124103814	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:124103814C>T	ENST00000360013.3	+	11	2014	c.1887C>T	c.(1885-1887)ttC>ttT	p.F629F	KALRN_ENST00000460856.1_Silent_p.F629F|KALRN_ENST00000240874.3_Silent_p.F629F	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	629					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	p.F629F(4)		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						TCCAAGACTTCGTGCGCAGGG	0.572000													11	25					0	0	0.000978159	0	0
IL33	90865	broad.mit.edu	37	9	6252943	6252943	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:6252943G>A	ENST00000381434.3	+	4	434	c.421G>A	c.(421-423)Gaa>Aaa	p.E141K	IL33_ENST00000456383.2_Intron|IL33_ENST00000417746.2_Intron	NM_033439.3	NP_254274.1	O95760	IL33_HUMAN	interleukin 33	141					positive regulation of chemokine secretion|positive regulation of inflammatory response|positive regulation of macrophage activation|positive regulation of transcription from RNA polymerase II promoter	extracellular space	cytokine activity			breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(23;0.158)|Prostate(43;0.167)		GBM - Glioblastoma multiforme(50;0.0161)|Lung(218;0.105)		TTTGGAGGATGAAAGTTATGA	0.264000													14	54					0	0	0.00244969	0	0
RP1-241P17.4	0	broad.mit.edu	37	X	114953504	114953504	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:114953504C>T	ENST00000449327.1	-	1	165	c.46G>A	c.(46-48)Gat>Aat	p.D16N																								TTAATATGATCGTTGTTCTCA	0.478000													12	5					0	0	0.00185496	0	0
CHST15	51363	broad.mit.edu	37	10	125805243	125805243	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:125805243C>T	ENST00000346248.5	-	2	1128	c.486G>A	c.(484-486)agG>agA	p.R162R	CHST15_ENST00000435907.1_Silent_p.R162R|CHST15_ENST00000421115.1_Silent_p.R162R	NM_001270764.1|NM_015892.3	NP_001257693.1|NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	162					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						TGAACTCAATCCTAGTTGTGA	0.393000													14	233					0	0	0.00185496	0	0
TRIP13	9319	broad.mit.edu	37	5	896848	896848	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:896848T>G	ENST00000166345.3	+	3	683	c.327T>G	c.(325-327)agT>agG	p.S109R		NM_004237.3	NP_004228.1	Q15645	PCH2_HUMAN	thyroid hormone receptor interactor 13	109					double-strand break repair|reciprocal meiotic recombination|synaptonemal complex assembly|transcription from RNA polymerase II promoter		ATP binding|identical protein binding|nucleoside-triphosphatase activity|transcription cofactor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	18			Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165)			GCCCCAGCAGTGAAAATCTGG	0.478000													17	45					0	0	0.00121646	0	0
ITGB2	3689	broad.mit.edu	37	21	46313432	46313432	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr21:46313432G>A	ENST00000397850.2	-	11	1563	c.1111C>T	c.(1111-1113)Cac>Tac	p.H371Y	ITGB2_ENST00000397857.1_Missense_Mutation_p.H371Y|ITGB2_ENST00000302347.5_Missense_Mutation_p.H371Y|ITGB2_ENST00000397854.3_Missense_Mutation_p.H314Y|ITGB2_ENST00000397852.1_Missense_Mutation_p.H371Y|ITGB2_ENST00000355153.4_Missense_Mutation_p.H371Y			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	371					apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	AGGGCGTTGTGATCCAGGAAG	0.597000											OREG0026255	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	30					0	0	0.000566183	0	0
ANO4	121601	broad.mit.edu	37	12	101477564	101477564	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:101477564C>T	ENST00000392979.3	+	15	1760	c.1399C>T	c.(1399-1401)Ctt>Ttt	p.L467F	ANO4_ENST00000392977.3_Missense_Mutation_p.L502F|ANO4_ENST00000299222.9_Intron|ANO4_ENST00000550015.1_Intron	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	502	Poly-Glu.					chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						ATGCAGCAGACTTATCGTTTC	0.323000										HNSCC(74;0.22)			8	37					0	0	0.000673444	0	0
DDO	8528	broad.mit.edu	37	6	110726085	110726085	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:110726085C>T	ENST00000368924.3	-	4	449	c.434G>A	c.(433-435)cGa>cAa	p.R145Q	DDO_ENST00000368925.1_Missense_Mutation_p.R117Q|DDO_ENST00000368923.3_Intron	NM_003649.2	NP_003640.2	Q99489	OXDD_HUMAN	D-aspartate oxidase	117					aspartate catabolic process	peroxisome	binding|D-amino-acid oxidase activity|D-aspartate oxidase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|pancreas(1)|skin(3)	24		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)		all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046)		AGTCATCTTTCGAAATCCCAG	0.468000													13	25					0	0	0.00185496	0	0
RP1	6101	broad.mit.edu	37	8	55538573	55538573	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:55538573G>A	ENST00000220676.1	+	4	2279	c.2131G>A	c.(2131-2133)Gaa>Aaa	p.E711K		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	711					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)			AATTACAAAGGAAATGATAGT	0.353000													7	71					0	0	0.00307968	0	0
ZNF365	22891	broad.mit.edu	37	10	64136687	64136687	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:64136687G>A	ENST00000395254.3	+	2	1015	c.735G>A	c.(733-735)agG>agA	p.R245R	ZNF365_ENST00000410046.3_Silent_p.R245R|ZNF365_ENST00000466727.1_Intron|ZNF365_ENST00000395255.3_Silent_p.R245R	NM_014951.2	NP_055766.2	Q70YC4	TALAN_HUMAN	zinc finger protein 365	0										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					AGCTTCTTAGGAAAGAAGAGT	0.502000													10	38					0	0	0.00136819	0	0
R3HDML	140902	broad.mit.edu	37	20	42979373	42979373	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:42979373A>C	ENST00000217043.2	+	5	875	c.703A>C	c.(703-705)Agc>Cgc	p.S235R	RP5-881L22.5_ENST00000438702.1_RNA|RP5-881L22.5_ENST00000430481.1_RNA	NM_178491.2	NP_848586.1	Q9H3Y0	CRSPL_HUMAN	R3H domain containing-like	235						extracellular region	peptidase inhibitor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)	21		Myeloproliferative disorder(115;0.028)	COAD - Colon adenocarcinoma(18;0.00189)			TTATCAAGGCAGCTGCAATAG	0.557000													25	51					0	0	0.000878237	0	0
CEP128	145508	broad.mit.edu	37	14	80971266	80971266	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:80971266G>A	ENST00000555265.1	-	24	3545	c.3170C>T	c.(3169-3171)tCa>tTa	p.S1057L	CEP128_ENST00000553717.1_5'UTR|CEP128_ENST00000281129.3_Missense_Mutation_p.S1057L			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	1057						centriole|spindle pole				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						GTTCACGTATGAAAATCTTGG	0.398000													10	22					0	0	0.000673444	0	0
PCLO	27445	broad.mit.edu	37	7	82785047	82785047	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:82785047G>A	ENST00000423517.2	-	2	1247	c.910C>T	c.(910-912)Cca>Tca	p.P304S	PCLO_ENST00000333891.8_Missense_Mutation_p.P304S	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	300	Gln-rich.|Pro-rich.				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						TGAATAGGTGGTTTGGATGGG	0.522000													10	60					0	0	0.00244969	0	0
NTNG1	22854	broad.mit.edu	37	1	107691306	107691306	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:107691306G>A	ENST00000370067.1	+	2	718	c.91G>A	c.(91-93)Gat>Aat	p.D31N	NTNG1_ENST00000542803.1_Missense_Mutation_p.D31N|NTNG1_ENST00000370070.2_Missense_Mutation_p.D31N|NTNG1_ENST00000370072.3_Missense_Mutation_p.D31N|NTNG1_ENST00000370066.1_Missense_Mutation_p.D31N|NTNG1_ENST00000370065.1_Missense_Mutation_p.D31N|NTNG1_ENST00000370068.1_Missense_Mutation_p.D31N|NTNG1_ENST00000370061.3_Missense_Mutation_p.D31N|NTNG1_ENST00000370071.2_Missense_Mutation_p.D31N|NTNG1_ENST00000370073.2_Missense_Mutation_p.D31N|NTNG1_ENST00000370074.4_Missense_Mutation_p.D31N			Q9Y2I2	NTNG1_HUMAN	netrin G1	31					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)		GGGACATTATGATTTGTGTAA	0.443000													14	57					0	0	0.00244969	0	0
RANBP3L	202151	broad.mit.edu	37	5	36257608	36257608	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:36257608C>T	ENST00000296604.3	-	9	1205	c.720G>A	c.(718-720)aaG>aaA	p.K240K	RANBP3L_ENST00000515759.1_Silent_p.K240K|RANBP3L_ENST00000502994.1_Silent_p.K265K	NM_145000.3	NP_659437.3	Q86VV4	RNB3L_HUMAN	RAN binding protein 3-like	240					intracellular transport					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	16	all_lung(31;4.52e-05)		Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)			ATGGTTTTTCCTTGGCATATG	0.308000													11	89					0	0	0.00244969	0	0
SCN7A	6332	broad.mit.edu	37	2	167284437	167284437	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:167284437G>A	ENST00000409855.1	-	17	2840	c.2714C>T	c.(2713-2715)tCt>tTt	p.S905F		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	905					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						ACCAAGTGAAGATCCGCGTCT	0.393000													6	21					0	0	0.00307968	0	0
ZSCAN21	7589	broad.mit.edu	37	7	99654713	99654713	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:99654713C>T	ENST00000292450.4	+	2	248	c.84C>T	c.(82-84)gtC>gtT	p.V28V	ZSCAN21_ENST00000543588.1_Silent_p.V28V|ZSCAN21_ENST00000456748.2_Silent_p.V28V|ZSCAN21_ENST00000477297.1_3'UTR	NM_145914.2	NP_666019.1	Q9Y5A6	ZSC21_HUMAN	zinc finger and SCAN domain containing 21	28					positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			TGGTAAAAGTCGAGGAGAAAG	0.557000													98	59					0	0	0.00361006	0	0
MANEA	79694	broad.mit.edu	37	6	96034656	96034656	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:96034656C>T	ENST00000358812.4	+	2	475	c.341C>T	c.(340-342)cCa>cTa	p.P114L	MANEA_ENST00000369293.1_Missense_Mutation_p.P114L	NM_024641.3	NP_078917.2	Q5SRI9	MANEA_HUMAN	mannosidase, endo-alpha	114	Catalytic (Probable).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	glycoprotein endo-alpha-1,2-mannosidase activity			breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)		BRCA - Breast invasive adenocarcinoma(108;0.148)		TATGGAAATCCACAATTTGAT	0.378000													33	21					0	0	0.00209593	0	0
MYH11	4629	broad.mit.edu	37	16	15841936	15841936	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:15841936G>A	ENST00000338282.6	-	17	2254	c.2148C>T	c.(2146-2148)ccC>ccT	p.P716P	MYH11_ENST00000300036.5_Silent_p.P716P|MYH11_ENST00000452625.2_Silent_p.P723P|MYH11_ENST00000396324.3_Silent_p.P723P|MYH11_ENST00000576790.1_Silent_p.P716P	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	716	Myosin head-like.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CGATCCGGTTGGGGAAGCCCT	0.637000			T	CBFB	AML								8	23					0	0	0.000274275	0	0
C10orf71	118461	broad.mit.edu	37	10	50531819	50531819	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:50531819C>T	ENST00000374144.3	+	3	1517	c.1229C>T	c.(1228-1230)cCt>cTt	p.P410L	C10orf71_ENST00000323868.4_Missense_Mutation_p.P410L			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	410										endometrium(1)	1						AGAGGCCCACCTTTGTATACA	0.458000													21	68					0	0	0.000720815	0	0
ZFYVE26	23503	broad.mit.edu	37	14	68236426	68236426	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:68236426G>A	ENST00000347230.4	-	29	5644	c.5506C>T	c.(5506-5508)Cgc>Tgc	p.R1836C	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.R1836C	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1836					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		CCACAGCGGCGACAATGATGA	0.502000													9	30					0	0	0.000442599	0	0
CASQ1	844	broad.mit.edu	37	1	160167371	160167371	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:160167371G>A	ENST00000368079.3	+	7	1052	c.777G>A	c.(775-777)agG>agA	p.R259R	CASQ1_ENST00000368078.3_Silent_p.R265R	NM_001231.4	NP_001222.3	P31415	CASQ1_HUMAN	calsequestrin 1 (fast-twitch, skeletal muscle)	265						mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum	calcium ion binding	p.R259R(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	21	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CAACCCTGAGGAAACTGAAGC	0.547000													13	66					0	0	0.000566183	0	0
SYNE1	23345	broad.mit.edu	37	6	152651014	152651014	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:152651014A>G	ENST00000367255.5	-	78	15407	c.14806T>C	c.(14806-14808)Tcc>Ccc	p.S4936P	SYNE1_ENST00000423061.1_Missense_Mutation_p.S4865P|SYNE1_ENST00000448038.1_Missense_Mutation_p.S4865P|SYNE1_ENST00000341594.5_Missense_Mutation_p.S4683P|SYNE1_ENST00000265368.4_Missense_Mutation_p.S4936P	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4936					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTCAAGCTGGACTGGACCTCT	0.488000										HNSCC(10;0.0054)			25	121					0	0	0.00127121	0	0
NRXN1	9378	broad.mit.edu	37	2	50850507	50850507	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:50850507C>T	ENST00000404971.1	-	7	2517	c.1178G>A	c.(1177-1179)gGa>gAa	p.G393E	NRXN1_ENST00000402717.3_Missense_Mutation_p.G360E|NRXN1_ENST00000401669.2_Missense_Mutation_p.G360E|NRXN1_ENST00000406316.2_Missense_Mutation_p.G360E|NRXN1_ENST00000406859.3_Missense_Mutation_p.G360E|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000405472.3_Missense_Mutation_p.G360E	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	360	Laminin G-like 2.				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)			ATTAAACTTTCCATTCACAGG	0.458000													10	21					0	0	0.000673444	0	0
ALMS1	7840	broad.mit.edu	37	2	73677009	73677009	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:73677009G>A	ENST00000264448.6	+	8	3463	c.3352G>A	c.(3352-3354)Gag>Aag	p.E1118K	ALMS1_ENST00000409009.1_Missense_Mutation_p.E1076K|ALMS1_ENST00000377715.1_Missense_Mutation_p.E1118K	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1118	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TCTGCCTAAAGAGGCTCTGAA	0.468000													10	49					0	0	0.000978159	0	0
TMC1	117531	broad.mit.edu	37	9	75357378	75357378	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:75357378C>T	ENST00000297784.5	+	10	1012	c.472C>T	c.(472-474)Cgt>Tgt	p.R158C	TMC1_ENST00000340019.3_Missense_Mutation_p.R158C|TMC1_ENST00000396237.3_Missense_Mutation_p.R158C	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	158	Arg/Asp/Glu/Lys-rich (highly charged).				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						AAAATTCCTCCGTGATTTTGA	0.383000													9	30					0	0	0.00136819	0	0
KIAA1377	57562	broad.mit.edu	37	11	101834449	101834449	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:101834449A>C	ENST00000263468.8	+	6	2953	c.2683A>C	c.(2683-2685)Act>Cct	p.T895P	KIAA1377_ENST00000537689.1_Missense_Mutation_p.T696P	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	895							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		TTCAAATGGCACTCAAGCAGT	0.418000													16	54					0	0	0.00316338	0	0
MS4A8	83661	broad.mit.edu	37	11	60470892	60470892	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:60470892C>T	ENST00000300226.2	+	3	464	c.261C>T	c.(259-261)ggC>ggT	p.G87G		NM_031457.1	NP_113645.1			membrane-spanning 4-domains, subfamily A, member 8																		TCGGCCTCGGCTCCATCATGG	0.552000													19	31					0	0	0.000958276	0	0
ANKRD2	26287	broad.mit.edu	37	10	99338083	99338083	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:99338083G>A	ENST00000307518.5	+	3	624	c.357G>A	c.(355-357)cgG>cgA	p.R119R	ANKRD2_ENST00000370655.1_Silent_p.R92R|ANKRD2_ENST00000298808.5_Silent_p.R119R|ANKRD2_ENST00000455090.1_Silent_p.R92R			Q9GZV1	ANKR2_HUMAN	ankyrin repeat domain 2 (stretch responsive muscle)	119					muscle contraction|muscle organ development		structural constituent of muscle			breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7		all_hematologic(284;1.95e-06)|Colorectal(252;0.0163)		Epithelial(162;1.18e-94)|all cancers(201;9.31e-86)|BRCA - Breast invasive adenocarcinoma(275;0.0233)|STAD - Stomach adenocarcinoma(243;0.181)|KIRC - Kidney renal clear cell carcinoma(50;0.206)|Kidney(138;0.241)		TCGAGCTGCGGAAGAAACGCA	0.672000													4	11					0	0	0.00024832	0	0
SEMG2	6407	broad.mit.edu	37	20	43850541	43850541	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:43850541C>T	ENST00000372769.3	+	2	358	c.268C>T	c.(268-270)Cta>Tta	p.L90L		NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN	semenogelin II	90	Repeat-rich region.				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				TTTGAATGCCCTACATAAGGC	0.363000													13	72					0	0	0.00316338	0	0
ZFHX4	79776	broad.mit.edu	37	8	77768353	77768353	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:77768353C>T	ENST00000521891.2	+	10	9644	c.9196C>T	c.(9196-9198)Cgt>Tgt	p.R3066C	ZFHX4_ENST00000518282.1_Missense_Mutation_p.R3040C|ZFHX4_ENST00000050961.6_Missense_Mutation_p.R3021C|ZFHX4_ENST00000455469.2_Missense_Mutation_p.R3021C	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3021	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R3050C(2)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AGAACTTGATCGTATAAAGAA	0.547000										HNSCC(33;0.089)			12	99					0	0	0.00400662	0	0
LAMB3	3914	broad.mit.edu	37	1	209803983	209803983	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:209803983C>T	ENST00000391911.1	-	8	1309	c.920G>A	c.(919-921)gGc>gAc	p.G307D	LAMB3_ENST00000367030.3_Missense_Mutation_p.G307D|LAMB3_ENST00000356082.4_Missense_Mutation_p.G307D	NM_001017402.1	NP_001017402.1	Q13751	LAMB3_HUMAN	laminin, beta 3	307	Laminin EGF-like 1.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		GGCGTCCTGGCCCTCCGCCGG	0.607000													5	16					0	0	0.000602214	0	0
SV2A	9900	broad.mit.edu	37	1	149882138	149882138	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:149882138G>A	ENST00000369146.3	-	5	1563	c.1073C>T	c.(1072-1074)cCc>cTc	p.P358L	SV2A_ENST00000369145.1_Missense_Mutation_p.P358L	NM_014849.3	NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	358					neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	GAAGAAACGGGGGCTCTCAGG	0.617000													3	6					0	0	0.00024832	0	0
TTN	7273	broad.mit.edu	37	2	179598013	179598013	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:179598013G>A	ENST00000589042.1	-	54	16231	c.16007C>T	c.(16006-16008)tCc>tTc	p.S5336F	TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.S4092F|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S5019F|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5019	Ig-like 34.						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)			CACTTCATTGGAAATCTCAAA	0.378000													25	39					0	0	0.00283554	0	0
VCL	7414	broad.mit.edu	37	10	75865061	75865061	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:75865061C>T	ENST00000211998.4	+	16	2478	c.2384C>T	c.(2383-2385)tCc>tTc	p.S795F	VCL_ENST00000417648.2_Intron|VCL_ENST00000372755.3_Missense_Mutation_p.S795F	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN	vinculin	795	N-terminal globular head.				adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface	costamere|cytosol|extracellular region|focal adhesion	actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity		VCL/ALK(4)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Prostate(51;0.0112)					AAAACCATCTCCCCGATGGTG	0.522000													16	27					0	0	0.00074312	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995171	140995171	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:140995171C>T	ENST00000285879.4	+	4	2267	c.1981C>T	c.(1981-1983)Cat>Tat	p.H661Y	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	661							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GTCTCCTCTCCATAGTCCTCA	0.582000										HNSCC(15;0.026)			13	40					0	0	0.00244969	0	0
HERC6	55008	broad.mit.edu	37	4	89311819	89311819	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:89311819C>T	ENST00000380265.5	+	4	635	c.452C>T	c.(451-453)tCg>tTg	p.S151L	HERC6_ENST00000264346.7_Missense_Mutation_p.S151L|HERC6_ENST00000273960.3_Missense_Mutation_p.S151L	NM_001165136.1	NP_001158608.1	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	151					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	ubiquitin-protein ligase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		CAAGTGTTTTCGTGGGGAAAG	0.463000													7	18					0	0	0.000673444	0	0
ACTL9	284382	broad.mit.edu	37	19	8807960	8807960	+	Silent	SNP	G	G	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:8807960G>C	ENST00000324436.3	-	1	1212	c.1092C>G	c.(1090-1092)gcC>gcG	p.A364A		NM_178525.3	NP_848620.2	Q8TC94	ACTL9_HUMAN	actin-like 9	364						cytoplasm|cytoskeleton				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						CGTGGGTCTCGGCTGGCAGAG	0.677000													5	27					0	0	0.000602214	0	0
LRRTM1	347730	broad.mit.edu	37	2	80529998	80529998	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:80529998C>T	ENST00000295057.3	-	2	1603	c.947G>A	c.(946-948)tGg>tAg	p.W316*	CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000496558.1_Intron|LRRTM1_ENST00000409148.1_Nonsense_Mutation_p.W316*|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000541047.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	316	LRRCT.					axon|endoplasmic reticulum membrane|growth cone|integral to membrane				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						CCCGCAATCCCACAGGTTCCC	0.627000										HNSCC(69;0.2)			7	10					0	0	0.00198382	0	0
IL5RA	3568	broad.mit.edu	37	3	3131940	3131940	+	Splice_Site	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:3131940C>T	ENST00000383846.1	-	10	1542	c.994_splice	c.e10-1	p.G332_splice	IL5RA_ENST00000256452.3_Intron|IL5RA_ENST00000311981.8_Splice_Site_p.G332_splice|IL5RA_ENST00000445864.2_Intron|IL5RA_ENST00000438560.1_Intron|IL5RA_ENST00000446632.2_Intron|IL5RA_ENST00000418488.2_Intron	NM_175728.2	NP_783855.1	Q01344	IL5RA_HUMAN	interleukin 5 receptor, alpha	332					cell proliferation	extracellular space|integral to membrane|plasma membrane	interleukin-5 receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		tcttgagaaccctaggaaaca	0.393000													5	31					0	0	0.000602214	0	0
LIFR	3977	broad.mit.edu	37	5	38490359	38490359	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:38490359G>A	ENST00000263409.4	-	15	2262	c.2100C>T	c.(2098-2100)ttC>ttT	p.F700F	LIFR_ENST00000453190.2_Silent_p.F700F	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	700	Fibronectin type-III 5.				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					ATCCATACAGGAAAAAATTAT	0.289000			T	PLAG1	salivary adenoma								22	155					0	0	0.00278032	0	0
PADI1	29943	broad.mit.edu	37	1	17548896	17548896	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:17548896G>A	ENST00000375471.4	+	2	296	c.204G>A	c.(202-204)tgG>tgA	p.W68*		NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	68					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	AGGCCCGTTGGCCGCTAGACA	0.532000													26	67					0	0	0.00209593	0	0
SEC14L4	284904	broad.mit.edu	37	22	30891766	30891766	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr22:30891766G>A	ENST00000540456.1	-	4	285	c.92C>T	c.(91-93)cCc>cTc	p.P31L	SEC14L4_ENST00000255858.7_Intron|SEC14L4_ENST00000392772.2_Intron|SEC14L4_ENST00000381982.3_Intron			Q9UDX3	S14L4_HUMAN	SEC14-like 4 (S. cerevisiae)	0						integral to membrane|intracellular	lipid binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	GGTGGGCTGGGGGGACTTGGG	0.587000													6	7					0	0	0.00116845	0	0
HIBCH	26275	broad.mit.edu	37	2	191069876	191069876	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:191069876A>C	ENST00000359678.5	-	14	1422	c.1128T>G	c.(1126-1128)ttT>ttG	p.F376L	HIBCH_ENST00000486981.1_5'UTR|HIBCH_ENST00000392332.3_3'UTR|HIBCH_ENST00000410045.1_Missense_Mutation_p.F153L	NM_014362.3|NM_198047.2	NP_055177.2|NP_932164.1	Q6NVY1	HIBCH_HUMAN	3-hydroxyisobutyryl-CoA hydrolase	376					branched chain family amino acid catabolic process	mitochondrial matrix	3-hydroxyisobutyryl-CoA hydrolase activity|protein binding			NS(1)|breast(2)|endometrium(1)|large_intestine(1)|lung(5)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(117;0.000586)|Epithelial(96;0.0286)|all cancers(119;0.0814)			CCAAAGACTTAAAGTGATTAT	0.368000													17	26					0	0	0.00074312	0	0
SLC35G3	146861	broad.mit.edu	37	17	33520657	33520657	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:33520657A>T	ENST00000297307.5	-	1	755	c.670T>A	c.(670-672)Ttc>Atc	p.F224I		NM_152462.2	NP_689675.1	Q8N808	AMAC1_HUMAN	solute carrier family 35, member G3	224						integral to membrane											CCAGATAGGAAGGCCACTGTT	0.627000													27	24					0	0	0.000720815	0	0
DUSP27	92235	broad.mit.edu	37	1	167096099	167096099	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:167096099G>A	ENST00000361200.2	+	6	1897	c.1731G>A	c.(1729-1731)ggG>ggA	p.G577G	DUSP27_ENST00000443333.1_Silent_p.G577G|DUSP27_ENST00000271385.5_Silent_p.G577G|DUSP27_ENST00000485151.1_Intron			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	577					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						AGGCAGTAGGGGAGAAGAACC	0.557000													8	27					0	0	0.000274275	0	0
ZFHX4	79776	broad.mit.edu	37	8	77616914	77616914	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:77616914C>T	ENST00000521891.2	+	2	1039	c.591C>T	c.(589-591)atC>atT	p.I197I	ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Silent_p.I197I|ZFHX4_ENST00000050961.6_Silent_p.I197I|ZFHX4_ENST00000455469.2_Silent_p.I197I	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	197						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CTTTTCATATCGCTTCATCCC	0.493000										HNSCC(33;0.089)			5	33					0	0	0.00116845	0	0
TSSC1	7260	broad.mit.edu	37	2	3341912	3341912	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:3341912G>A	ENST00000398659.4	-	3	275	c.135C>T	c.(133-135)atC>atT	p.I45I	TSSC1_ENST00000382125.4_Silent_p.I45I|TSSC1_ENST00000443925.2_Silent_p.I45I			Q53HC9	TSSC1_HUMAN	tumor suppressing subtransferable candidate 1	45							protein binding			breast(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	18	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.212)		OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464)		CAAAATCTATGATATGGATCT	0.388000													6	37					0	0	0.00307968	0	0
NAAA	27163	broad.mit.edu	37	4	76846923	76846923	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:76846923G>A	ENST00000286733.4	-	5	732	c.631C>T	c.(631-633)Cgg>Tgg	p.R211W	NAAA_ENST00000399497.3_Missense_Mutation_p.R211W|NAAA_ENST00000505594.1_Missense_Mutation_p.R110W|NAAA_ENST00000507956.1_Missense_Mutation_p.R211W	NM_014435.3	NP_055250.2	Q02083	NAAA_HUMAN	N-acylethanolamine acid amidase	211					lipid metabolic process	lysosome	hydrolase activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	11						ATGTGTCTCCGAAACAGGGCA	0.448000													5	32					0	0	0.00198382	0	0
GIPC3	126326	broad.mit.edu	37	19	3586562	3586562	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:3586562G>A	ENST00000322315.5	+	2	340	c.295G>A	c.(295-297)Gag>Aag	p.E99K		NM_133261.2	NP_573568.1	Q8TF64	GIPC3_HUMAN	GIPC PDZ domain containing family, member 3	99										breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		GATAGGCCTGGAGGACTTCAT	0.577000											OREG0025154	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	49					0	0	0.00244969	0	0
SMG8	55181	broad.mit.edu	37	17	57288609	57288609	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:57288609C>T	ENST00000543872.2	+	2	1461	c.1197C>T	c.(1195-1197)tcC>tcT	p.S399S	SMG8_ENST00000300917.5_Silent_p.S399S|SMG8_ENST00000578922.1_Silent_p.S399S|CTD-2510F5.6_ENST00000577660.1_Intron|SMG8_ENST00000580498.1_Intron			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	399					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding			NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						GCAGCAGTTCCAGTTCTTCAG	0.517000													18	75					0	0	0.00188189	0	0
DAB1	1600	broad.mit.edu	37	1	57480650	57480650	+	Silent	SNP	G	G	A	rs148307561		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:57480650G>A	ENST00000371236.2	-	12	1613	c.1350C>T	c.(1348-1350)gtC>gtT	p.V450V	DAB1_ENST00000371234.4_Silent_p.V450V|DAB1_ENST00000371231.1_Silent_p.V483V|DAB1_ENST00000420954.2_Silent_p.V448V|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000439789.2_Silent_p.V364V|DAB1_ENST00000414851.2_Silent_p.V432V			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	483					cell differentiation|nervous system development			p.V450V(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						GTGCCACCCCGACTTTGTTGA	0.557000													9	21					0	0	0.000978159	0	0
ACAP1	9744	broad.mit.edu	37	17	7240655	7240655	+	Silent	SNP	C	C	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:7240655C>A	ENST00000158762.3	+	2	284	c.78C>A	c.(76-78)gcC>gcA	p.A26A		NM_014716.3	NP_055531.1	Q15027	ACAP1_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	26	BAR.|Required for formation of endosomal tubules when overexpressed with PIP5K1C.				intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding			NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						TGGTGGAAGCCGAAGTGTCAG	0.572000													6	89					0.00307968	0.00887212	0.00307968	1	0
P2RX6	9127	broad.mit.edu	37	22	21377300	21377300	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr22:21377300C>T	ENST00000413302.2	+	5	681	c.533C>T	c.(532-534)cCc>cTc	p.P178L	P2RX6_ENST00000401443.1_Missense_Mutation_p.P152L|P2RX6_ENST00000402329.3_3'UTR|P2RX6_ENST00000443995.3_Missense_Mutation_p.P125L|P2RX6_ENST00000336296.2_Missense_Mutation_p.P168L			O15547	P2RX6_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 6	178					muscle contraction|protein homooligomerization	cell junction|cytoplasm|integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity										AGTTGGTGCCCCGTGGAGAGT	0.577000													22	31					0	0	0.000720815	0	0
MYOF	26509	broad.mit.edu	37	10	95116512	95116512	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:95116512G>A	ENST00000371501.4	-	30	3336	c.3214C>T	c.(3214-3216)Cgc>Tgc	p.R1072C	MYOF_ENST00000358334.5_Missense_Mutation_p.R1059C|MYOF_ENST00000371502.4_Missense_Mutation_p.R1072C|MYOF_ENST00000359263.4_Missense_Mutation_p.R1072C			Q9NZM1	MYOF_HUMAN	myoferlin	1072	Poly-Arg.				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CGTCTGCGGCGGAAGGTATCT	0.473000													15	33					0	0	0.00316338	0	0
XRN1	54464	broad.mit.edu	37	3	142089449	142089449	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:142089449G>A	ENST00000264951.4	-	27	3199	c.3082C>T	c.(3082-3084)Caa>Taa	p.Q1028*	XRN1_ENST00000392981.2_Nonsense_Mutation_p.Q1028*	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	1028					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						ATAATTTCTTGAACTTTTTCA	0.269000													16	50					0	0	0.000566183	0	0
GPR158	57512	broad.mit.edu	37	10	25861759	25861759	+	Missense_Mutation	SNP	G	G	A	rs144380617		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:25861759G>A	ENST00000376351.3	+	7	2055	c.1696G>A	c.(1696-1698)Gat>Aat	p.D566N		NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	566						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.D566N(2)		breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						GAAAACATCCGATCACCTCAT	0.428000													5	26					0	0	0.000602214	0	0
VPS33B	26276	broad.mit.edu	37	15	91543792	91543792	+	Silent	SNP	C	C	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:91543792C>G	ENST00000333371.3	-	20	1862	c.1509G>C	c.(1507-1509)ctG>ctC	p.L503L	VPS33B_ENST00000535843.1_Silent_p.L412L|VPS33B_ENST00000535906.1_Silent_p.L476L	NM_018668.3	NP_061138.3	Q9H267	VP33B_HUMAN	vacuolar protein sorting 33 homolog B (yeast)	503					cellular membrane fusion|lysosome localization|melanosome localization|platelet alpha granule organization|protein transport|vesicle docking involved in exocytosis	late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm|platelet alpha granule	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2)	16	Lung NSC(78;0.0987)|all_lung(78;0.175)					GGGGCACTTTCAGATCATACT	0.502000													30	143					0	0	0.00327116	0	0
TIAM1	7074	broad.mit.edu	37	21	32575283	32575283	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr21:32575283G>A	ENST00000286827.3	-	13	2905	c.2434C>T	c.(2434-2436)Cta>Tta	p.L812L	TIAM1_ENST00000541036.1_Intron	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	812	RBD.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						TTTTCTATTAGAAATTTCAGG	0.393000													22	78					0	0	0.000878237	0	0
CYFIP1	23191	broad.mit.edu	37	15	22993143	22993143	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:22993143C>T	ENST00000313077.7	+	26	3155	c.3030C>T	c.(3028-3030)atC>atT	p.I1010I	CYFIP1_ENST00000435939.2_Silent_p.I579I|CYFIP1_ENST00000560848.1_Silent_p.I1010I	NM_014608.2	NP_055423.1	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1	1010					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		GCCTGCTCATCGAGCAGAGCC	0.672000													5	31					0	0	0.000602214	0	0
PCDHGA1	56114	broad.mit.edu	37	5	140711095	140711095	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:140711095C>T	ENST00000517417.1	+	1	844	c.844C>T	c.(844-846)Cac>Tac	p.H282Y	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.H282Y	NM_018912.2	NP_061735.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTACTCCTTTCACAATGTAGA	0.423000													15	31					0	0	0.000566183	0	0
OR7G3	390883	broad.mit.edu	37	19	9237048	9237048	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:9237048G>A	ENST00000305444.2	-	1	578	c.579C>T	c.(577-579)ctC>ctT	p.L193L		NM_001001958.1	NP_001001958.1	Q8NG95	OR7G3_HUMAN	olfactory receptor, family 7, subfamily G, member 3	193					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						TGTTATTGATGAGGACATCAG	0.453000													31	35					0	0	0.0024448	0	0
GLI2	2736	broad.mit.edu	37	2	121712857	121712857	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:121712857G>A	ENST00000452319.1	+	5	554	c.494G>A	c.(493-495)gGc>gAc	p.G165D	GLI2_ENST00000314490.11_5'UTR|GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000361492.4_Missense_Mutation_p.G165D			P10070	GLI2_HUMAN	GLI family zinc finger 2	165					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				GGACTGTTTGGCCTTCCTGCT	0.637000													10	12					0	0	0.000978159	0	0
CNTN6	27255	broad.mit.edu	37	3	1262427	1262427	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:1262427C>T	ENST00000446702.2	+	3	739	c.112C>T	c.(112-114)Cct>Tct	p.P38S	CNTN6_ENST00000350110.2_Missense_Mutation_p.P38S|CNTN6_ENST00000539053.1_5'UTR			Q9UQ52	CNTN6_HUMAN	contactin 6	38	Ig-like C2-type 1.				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)		TGTCATTTTTCCTTTGGATTT	0.398000													12	36					0	0	0.000978159	0	0
SELE	6401	broad.mit.edu	37	1	169697057	169697057	+	Missense_Mutation	SNP	C	C	T	rs143837593		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:169697057C>T	ENST00000333360.7	-	9	1430	c.1291G>A	c.(1291-1293)Gat>Aat	p.D431N	SELE_ENST00000367777.1_Intron|SELE_ENST00000367776.1_Missense_Mutation_p.D368N|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367781.4_Missense_Mutation_p.D368N|SELE_ENST00000367779.4_Intron|SELE_ENST00000367774.1_Intron|SELE_ENST00000367775.1_Missense_Mutation_p.D306N|SELE_ENST00000367782.4_Intron|SELE_ENST00000367780.4_Missense_Mutation_p.D306N	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	431	Sushi 5.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					TGGACAGCATCGCATCTCACA	0.502000													11	43					0	0	0.00136819	0	0
P2RY10	27334	broad.mit.edu	37	X	78216954	78216954	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:78216954C>T	ENST00000171757.2	+	4	1217	c.937C>T	c.(937-939)Cgt>Tgt	p.R313C	P2RY10_ENST00000544091.1_Missense_Mutation_p.R313C	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	313						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						TTCAGAGTTTCGTGACCAACT	0.458000													15	62					0	0	0.00244969	0	0
PHC2	1912	broad.mit.edu	37	1	33799694	33799694	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:33799694G>A	ENST00000257118.5	-	9	1808	c.1755C>T	c.(1753-1755)ttC>ttT	p.F585F	PHC2_ENST00000373422.3_Silent_p.F191F|PHC2_ENST00000485928.1_Intron|PHC2_ENST00000431992.1_Silent_p.F556F|PHC2_ENST00000419414.2_Silent_p.F586F|PHC2_ENST00000373416.1_Silent_p.F50F|PHC2_ENST00000373418.3_Silent_p.F50F	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)	585					multicellular organismal development	PcG protein complex	DNA binding|identical protein binding|zinc ion binding			autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				TCCGTACCGGGAAAGGCTCCG	0.408000													14	26					0	0	0.00400662	0	0
RGS7	6000	broad.mit.edu	37	1	240969462	240969462	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:240969462C>T	ENST00000366565.1	-	15	1628	c.1247G>A	c.(1246-1248)cGa>cAa	p.R416Q	RGS7_ENST00000446183.2_Missense_Mutation_p.R332Q|RGS7_ENST00000331110.7_Missense_Mutation_p.R390Q|RGS7_ENST00000366564.1_Missense_Mutation_p.R416Q|RGS7_ENST00000401882.1_Missense_Mutation_p.R363Q|RGS7_ENST00000366562.4_Missense_Mutation_p.R416Q|RGS7_ENST00000407727.1_Missense_Mutation_p.R416Q|RGS7_ENST00000366563.1_Missense_Mutation_p.R416Q|RGS7_ENST00000348120.2_Missense_Mutation_p.R363Q	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	416	RGS.				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)			AAATGTGTATCGTCCAGGTTC	0.453000													7	52					0	0	0.000442599	0	0
FAM170A	340069	broad.mit.edu	37	5	118968463	118968463	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:118968463G>A	ENST00000515256.1	+	2	263	c.91G>A	c.(91-93)Gat>Aat	p.D31N				A1A519	F170A_HUMAN	family with sequence similarity 170, member A	31						intracellular	zinc ion binding	p.D31H(2)		breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						GTCCCAAGAGGATGCCCTGCA	0.468000													16	15					0	0	0.000958276	0	0
MAP3K19	80122	broad.mit.edu	37	2	135738578	135738578	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:135738578C>T	ENST00000375845.3	-	9	3763	c.3733G>A	c.(3733-3735)Gga>Aga	p.G1245R	MAP3K19_ENST00000375844.3_Missense_Mutation_p.G427R|MAP3K19_ENST00000392915.1_3'UTR|MAP3K19_ENST00000392917.3_Missense_Mutation_p.G377R|MAP3K19_ENST00000392918.3_Missense_Mutation_p.G379R|MAP3K19_ENST00000315513.3_Missense_Mutation_p.G106R|MAP3K19_ENST00000358371.4_Missense_Mutation_p.G1132R	NM_025052.3	NP_079328.3			mitogen-activated protein kinase kinase kinase 19																		GATTTCCGTCCATAGCCAGAC	0.507000													7	41					0	0	0.000442599	0	0
SETD3	84193	broad.mit.edu	37	14	99927618	99927618	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:99927618C>T	ENST00000331768.5	-	4	415	c.256G>A	c.(256-258)Gcc>Acc	p.A86T	SETD3_ENST00000453938.1_Intron|SETD3_ENST00000436070.2_Missense_Mutation_p.A86T|SETD3_ENST00000329331.3_Missense_Mutation_p.A86T	NM_032233.2	NP_115609.2	Q86TU7	SETD3_HUMAN	SET domain containing 3	86	SET.				peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)				TTTTCAGAGGCCCATTTCATT	0.373000													12	56					0	0	0.000978159	0	0
FABP4	2167	broad.mit.edu	37	8	82392784	82392784	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:82392784C>T	ENST00000256104.4	-	2	218	c.123G>A	c.(121-123)atG>atA	p.M41I	RP11-157I4.4_ENST00000524085.2_RNA|FABP4_ENST00000518669.1_Intron	NM_001442.2	NP_001433.1	P15090	FABP4_HUMAN	fatty acid binding protein 4, adipocyte	41					triglyceride catabolic process	cytoplasm|nucleus|soluble fraction	fatty acid binding|protein binding|transporter activity			breast(2)|central_nervous_system(1)|large_intestine(1)|ovary(1)|skin(1)	6			Epithelial(68;0.213)			CACTGATGATCATGTTAGGTT	0.413000													9	39					0	0	0.000978159	0	0
DPYD	1806	broad.mit.edu	37	1	97700466	97700466	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:97700466C>T	ENST00000370192.3	-	19	2484	c.2384G>A	c.(2383-2385)gGa>gAa	p.G795E	DPYD-AS1_ENST00000422980.1_RNA	NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	795					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	AGAGTCAATTCCACCAGTAGC	0.458000													6	25					0	0	0.00116845	0	0
CELSR3	1951	broad.mit.edu	37	3	48697011	48697011	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:48697011G>A	ENST00000544264.1	-	1	3337	c.3057C>T	c.(3055-3057)gtC>gtT	p.V1019V	CELSR3_ENST00000164024.4_Silent_p.V1019V			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1019	Cadherin 7.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TTACTGTACGGACAATTCCAG	0.552000													9	28					0	0	0.000274275	0	0
SPRR2G	6706	broad.mit.edu	37	1	153122501	153122501	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:153122501G>A	ENST00000368748.4	-	2	124	c.86C>T	c.(85-87)cCc>cTc	p.P29L		NM_001014291.3	NP_001014313.1	Q9BYE4	SPR2G_HUMAN	small proline-rich protein 2G	29	3 X 9 AA approximate tandem repeats.				keratinization	cornified envelope|cytoplasm				endometrium(1)|lung(1)|skin(1)	3	all_lung(78;1.78e-30)|Lung NSC(65;7.29e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCACTTCGGGGGTGGACATGG	0.602000													16	44					0	0	0.000958276	0	0
BAI3	577	broad.mit.edu	37	6	70070772	70070772	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:70070772G>A	ENST00000370598.1	+	29	4428	c.3607G>A	c.(3607-3609)Gat>Aat	p.D1203N	BAI3_ENST00000546190.1_Missense_Mutation_p.D167N|BAI3_ENST00000238918.8_Missense_Mutation_p.D409N	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1203					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TCTTCATAAGGATATTGGTCC	0.358000													4	37					0	0	0.000602214	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144918872	144918872	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:144918872G>A	ENST00000529945.1	-	6	2242	c.1803C>T	c.(1801-1803)caC>caT	p.H601H	PDE4DIP_ENST00000313382.9_Silent_p.H504H|PDE4DIP_ENST00000369351.3_Silent_p.H438H|PDE4DIP_ENST00000313431.9_Silent_p.H601H|PDE4DIP_ENST00000369349.3_Silent_p.H438H|PDE4DIP_ENST00000369356.4_Silent_p.H438H|PDE4DIP_ENST00000369354.3_Silent_p.H438H|PDE4DIP_ENST00000479408.2_Silent_p.H225H|PDE4DIP_ENST00000369359.4_Silent_p.H575H|PDE4DIP_ENST00000530740.1_Silent_p.H575H			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	438					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TATGGTTTAGGTGCTGGATGT	0.408000			T	PDGFRB	MPD								73	648					0	0	0.00361006	0	0
THSD7A	221981	broad.mit.edu	37	7	11676392	11676392	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:11676392C>T	ENST00000423059.3	-	2	638	c.387G>A	c.(385-387)tgG>tgA	p.W129*	THSD7A_ENST00000480061.1_5'UTR	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	129						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GACACTGATTCCAAGGTCCCA	0.468000										HNSCC(18;0.044)			9	42					0	0	0.000274275	0	0
CFTR	1080	broad.mit.edu	37	7	117175409	117175409	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:117175409C>T	ENST00000003084.6	+	6	819	c.687C>T	c.(685-687)ttC>ttT	p.F229F	CFTR_ENST00000454343.1_Silent_p.F229F	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	229	ABC transmembrane type-1 1.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	GACTTGGTTTCCTGATAGTCC	0.448000									Cystic Fibrosis				15	77					0	0	0.000566183	0	0
KIAA1462	57608	broad.mit.edu	37	10	30317902	30317902	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:30317902C>T	ENST00000375377.1	-	3	1276	c.1175G>A	c.(1174-1176)gGa>gAa	p.G392E		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	392	Pro-rich.							p.G392E(1)		breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						ATTCCCAGTTCCAGGGGGGCC	0.617000													14	37					0	0	0.00244969	0	0
GIMAP5	55340	broad.mit.edu	37	7	150439358	150439358	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:150439358G>A	ENST00000358647.3	+	3	498	c.131G>A	c.(130-132)gGg>gAg	p.G44E	GIMAP5_ENST00000479556.1_3'UTR	NM_018384.4	NP_060854.2			GTPase, IMAP family member 5											central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGTGCCACAGGGAACAGCATC	0.527000													36	22					0	0	0.000953801	0	0
DENR	8562	broad.mit.edu	37	12	123253445	123253445	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:123253445G>A	ENST00000280557.6	+	7	715	c.529G>A	c.(529-531)Gtc>Atc	p.V177I	DENR_ENST00000455982.2_Intron	NM_003677.3	NP_003668.2	O43583	DENR_HUMAN	density-regulated protein	177	SUI1.						protein binding|translation initiation factor activity			kidney(1)|large_intestine(1)|urinary_tract(1)	3	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.28e-05)|Epithelial(86;6.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.199)		CATAATTGATGTCATTCAGGA	0.373000													6	46					0	0	0.000274275	0	0
EIF4B	1975	broad.mit.edu	37	12	53421854	53421854	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:53421854G>A	ENST00000262056.9	+	8	1187	c.861G>A	c.(859-861)agG>agA	p.R287R	RP11-983P16.4_ENST00000552905.1_RNA|EIF4B_ENST00000420463.3_Silent_p.R287R|EIF4B_ENST00000416762.3_Silent_p.R248R	NM_001417.4	NP_001408.2	P23588	IF4B_HUMAN	eukaryotic translation initiation factor 4B	287	Arg-rich.|Asp-rich.				insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	nucleotide binding|translation initiation factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						GGTATCGCAGGGATGATGACT	0.502000													17	46					0	0	0.000566183	0	0
PPAP2A	8611	broad.mit.edu	37	5	54786856	54786856	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:54786856G>A	ENST00000264775.5	-	2	484	c.145C>T	c.(145-147)Ccg>Tcg	p.P49S	PPAP2A_ENST00000515132.1_Intron|PPAP2A_ENST00000307259.8_Intron	NM_176895.1	NP_795714.1	O14494	LPP1_HUMAN	phosphatidic acid phosphatase type 2A	48					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|androgen receptor signaling pathway|germ cell migration|negative regulation of cell proliferation|phospholipid dephosphorylation|regulation of lipid metabolic process|sphingolipid metabolic process	integral to plasma membrane|membrane fraction	phosphatidate phosphatase activity|sphingosine-1-phosphate phosphatase activity			breast(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	9		Lung NSC(810;4.08e-05)|Prostate(74;0.0181)|Breast(144;0.0544)				TCATGGTACGGATAGTTGATG	0.448000													10	11					0	0	0.00136819	0	0
MUC16	94025	broad.mit.edu	37	19	8994501	8994501	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:8994501G>A	ENST00000397910.4	-	64	41594	c.41391C>T	c.(41389-41391)ttC>ttT	p.F13797F	MUC16_ENST00000380951.5_Silent_p.F438F	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13799	SEA 12.			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.F13797F(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TAGTGATGGTGAAGTTGAGGG	0.483000													7	48					0	0	0.00198382	0	0
KIAA1199	57214	broad.mit.edu	37	15	81172181	81172181	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:81172181C>T	ENST00000394685.3	+	5	785	c.366C>T	c.(364-366)atC>atT	p.I122I	KIAA1199_ENST00000356249.5_Silent_p.I122I|KIAA1199_ENST00000220244.3_Silent_p.I122I			Q8WUJ3	K1199_HUMAN	KIAA1199	122	G8.									breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						ATTTCACCATCATTTTGTATG	0.522000													13	25					0	0	0.00185496	0	0
CHD4	1108	broad.mit.edu	37	12	6701628	6701628	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:6701628G>A	ENST00000309577.6	-	19	3042	c.2879C>T	c.(2878-2880)gCc>gTc	p.A960V	CHD4_ENST00000544040.1_Missense_Mutation_p.A953V|CHD4_ENST00000357008.2_Missense_Mutation_p.A960V|CHD4_ENST00000544484.1_Missense_Mutation_p.A957V			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	960					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						GAACACATCGGCTTTGAGCCG	0.507000													16	69					0	0	0.000958276	0	0
ITIH1	3697	broad.mit.edu	37	3	52825841	52825841	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:52825841G>A	ENST00000273283.2	+	22	2674	c.2650G>A	c.(2650-2652)Gag>Aag	p.E884K	ITIH1_ENST00000405128.3_Missense_Mutation_p.E250K|ITIH1_ENST00000542827.1_3'UTR|ITIH1_ENST00000540715.1_Missense_Mutation_p.E742K|ITIH1_ENST00000537050.1_Missense_Mutation_p.E596K	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	884	Hyaluronan-binding.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		GCATGGGGCCGAGGTGTCCTG	0.577000													4	6					0	0	0.00024832	0	0
ZNF33A	7581	broad.mit.edu	37	10	38344756	38344756	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:38344756C>T	ENST00000374618.3	+	5	1882	c.1704C>T	c.(1702-1704)ctC>ctT	p.L568L	ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000458705.2_Silent_p.L567L|ZNF33A_ENST00000432900.2_Silent_p.L574L|ZNF33A_ENST00000307441.9_Silent_p.L567L	NM_001278170.1|NM_001278171.1|NM_001278173.1|NM_001278174.1|NM_001278175.1|NM_001278176.1|NM_001278177.1|NM_001278178.1|NM_001278179.1|NM_006954.1|NM_006974.2	NP_001265099.1|NP_001265100.1|NP_001265102.1|NP_001265103.1|NP_001265104.1|NP_001265105.1|NP_001265106.1|NP_001265107.1|NP_001265108.1|NP_008885.1|NP_008905.1	Q06730	ZN33A_HUMAN	zinc finger protein 33A	567						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						AGTCAACCCTCTCTCAACATT	0.398000													10	34					0	0	0.000673444	0	0
TMC5	79838	broad.mit.edu	37	16	19468053	19468053	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:19468053G>A	ENST00000219821.5	+	1	282	c.25G>A	c.(25-27)Gaa>Aaa	p.E9K	TMC5_ENST00000541464.1_Intron|TMC5_ENST00000396229.2_Intron|TMC5_ENST00000564959.1_Missense_Mutation_p.E9K|TMC5_ENST00000561503.1_5'UTR|TMC5_ENST00000381414.4_Intron|TMC5_ENST00000542583.2_Intron	NM_024780.4	NP_079056.2	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	0						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						CCACGTGAATGAAATCATCAT	0.493000													13	44					0	0	0.00400662	0	0
SLC35G6	643664	broad.mit.edu	37	17	7386305	7386305	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:7386305G>A	ENST00000412468.2	+	2	1117	c.1002G>A	c.(1000-1002)ggG>ggA	p.G334G	ZBTB4_ENST00000311403.4_Intron	NM_001102614.1	NP_001096084.1	P0C7Q6	AMCL3_HUMAN	solute carrier family 35, member G6	334						integral to membrane											AGAGGGAAGGGAAGGTGGAGG	0.557000													6	19					0	0	0.00307968	0	0
HLA-DOA	3111	broad.mit.edu	37	6	32977250	32977250	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:32977250C>T	ENST00000229829.5	-	1	139	c.64G>A	c.(64-66)Gag>Aag	p.E22K	HLA-DOA_ENST00000450833.2_5'UTR	NM_002119.3	NP_002110.1	P06340	DOA_HUMAN	major histocompatibility complex, class II, DO alpha	22					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endosome membrane|integral to membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	9						GCCCCTGCCTCCTGCGGGCTC	0.612000													5	23					0	0	0.000602214	0	0
DLG2	1740	broad.mit.edu	37	11	84028138	84028138	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:84028138C>T	ENST00000280241.8	-	1	50	c.51G>A	c.(49-51)ggG>ggA	p.G17G	DLG2_ENST00000524982.1_Intron|DLG2_ENST00000543673.1_Intron|DLG2_ENST00000398309.2_Intron|DLG2_ENST00000532653.1_Intron|DLG2_ENST00000398301.2_Silent_p.G17G|DLG2_ENST00000376104.2_Intron	NM_001206769.1	NP_001193698.1	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	0						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				CGGCATCCATCCCATCGGACC	0.572000													15	66					0	0	0.00074312	0	0
RNF213	57674	broad.mit.edu	37	17	78247198	78247198	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:78247198C>T	ENST00000582970.1	+	3	399	c.256C>T	c.(256-258)Caa>Taa	p.Q86*	RNF213_ENST00000508628.2_Nonsense_Mutation_p.Q86*|RNF213_ENST00000456466.1_Nonsense_Mutation_p.Q86*|RNF213_ENST00000319921.4_Nonsense_Mutation_p.Q86*	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	86										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CTGGACCGTCCAAGAAGTGAG	0.632000													14	16					0	0	0.00244969	0	0
XIRP2	129446	broad.mit.edu	37	2	168099166	168099166	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:168099166G>A	ENST00000409195.1	+	9	1353	c.1264G>A	c.(1264-1266)Gaa>Aaa	p.E422K	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E200K|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.E422K|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	247					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CCAGAGGAAGGAAACATCAAC	0.423000													18	31					0	0	0.000566183	0	0
THRB	7068	broad.mit.edu	37	3	24185123	24185123	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:24185123C>T	ENST00000396671.2	-	8	955	c.607G>A	c.(607-609)Gag>Aag	p.E203K	THRB_ENST00000416420.1_Missense_Mutation_p.E203K|THRB_ENST00000356447.4_Missense_Mutation_p.E203K|THRB_ENST00000280696.5_Missense_Mutation_p.E218K	NM_001128176.2	NP_001121648.1	P10828	THB_HUMAN	thyroid hormone receptor, beta	203					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3)	19					Levothyroxine(DB00451)|Liothyronine(DB00279)	TTCTGCAGCTCTTCCCGCCGT	0.577000													13	38					0	0	0.00244969	0	0
KRT3	3850	broad.mit.edu	37	12	53189777	53189777	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:53189777G>A	ENST00000417996.2	-	1	124	c.50C>T	c.(49-51)tCc>tTc	p.S17F	KRT3_ENST00000309505.3_Missense_Mutation_p.S17F	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	17	Gly-rich.|Head.				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						AGAGCGGCCGGAGAAACCCTG	0.617000													7	24					0	0	0.00198382	0	0
F2	2147	broad.mit.edu	37	11	46750952	46750952	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:46750952G>A	ENST00000311907.5	+	12	1551	c.1495G>A	c.(1495-1497)Ggg>Agg	p.G499R	F2_ENST00000530231.1_Missense_Mutation_p.G460R	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN	coagulation factor II (thrombin)	499	Peptidase S1.				activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction	calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898)	TGGATACAAGGGGCGGGTGAC	0.612000													9	34					0	0	0.00185496	0	0
OR7E24	26648	broad.mit.edu	37	19	9362185	9362185	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:9362185C>T	ENST00000456448.1	+	1	580	c.466C>T	c.(466-468)Cca>Tca	p.P156S		NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E, member 24	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						CATCATGAACCCACGCCTCTG	0.453000													5	35					0	0	0.00198382	0	0
LOC101927209	101927209	broad.mit.edu	37	1	142713202	142713202	+	RNA	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:142713202C>T	ENST00000369381.2	-	0	1403																											TACACAGCTCCACTTTCCAGT	0.378000													12	17					0	0	0.00244969	0	0
GAR1	54433	broad.mit.edu	37	4	110739239	110739239	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:110739239G>A	ENST00000226796.6	+	3	626	c.362G>A	c.(361-363)aGa>aAa	p.R121K	GAR1_ENST00000394631.3_Missense_Mutation_p.R121K	NM_018983.3	NP_061856.1	Q9NY12	GAR1_HUMAN	GAR1 ribonucleoprotein	121					rRNA processing|snRNA pseudouridine synthesis	box H/ACA snoRNP complex|Cajal body	cation channel activity|pseudouridine synthase activity|snoRNA binding			kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	9						GGACAACTCAGAGATTTTGTA	0.328000													20	47					0	0	0.00229938	0	0
SULT1B1	27284	broad.mit.edu	37	4	70615461	70615461	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:70615461G>A	ENST00000310613.2	-	4	650	c.353C>T	c.(352-354)tCt>tTt	p.S118F		NM_014465.3	NP_055280.2	O43704	ST1B1_HUMAN	sulfotransferase family, cytosolic, 1B, member 1	118					3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol				breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						TTCCCAGAAAGATTTAGGAAG	0.368000													11	55					0	0	0.00136819	0	0
CAPN10	11132	broad.mit.edu	37	2	241535876	241535876	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:241535876C>T	ENST00000391984.2	+	8	1615	c.1419C>T	c.(1417-1419)ttC>ttT	p.F473F	CAPN10_ENST00000404753.3_Silent_p.F473F|CAPN10_ENST00000352879.4_Intron|CAPN10_ENST00000270364.7_Intron|CAPN10_ENST00000354082.4_Intron	NM_023083.3	NP_075571.1	Q9HC96	CAN10_HUMAN	calpain 10	473	Domain III 1.				actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		CCAGCACCTTCCTGAAGGACG	0.662000													5	25					0	0	0.000602214	0	0
SCUBE3	222663	broad.mit.edu	37	6	35209380	35209380	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:35209380C>T	ENST00000274938.7	+	11	1256	c.1256C>T	c.(1255-1257)tCt>tTt	p.S419F	SCUBE3_ENST00000394681.1_Missense_Mutation_p.S435F	NM_152753.2	NP_689966.2	Q8IX30	SCUB3_HUMAN	signal peptide, CUB domain, EGF-like 3	419					protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						TGCAACCGGTCTGGCAAGAAG	0.582000											OREG0017372	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	79					0	0	0.000274275	0	0
CTNNA3	29119	broad.mit.edu	37	10	68280388	68280388	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:68280388G>A	ENST00000433211.1	-	11	1692	c.1518C>T	c.(1516-1518)ttC>ttT	p.F506F	CTNNA3_ENST00000373744.4_Silent_p.F506F	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	506					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						ATACAGCAAGGAAGTCATCAA	0.363000													10	22					0	0	0.000978159	0	0
SH2D1B	117157	broad.mit.edu	37	1	162381788	162381788	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:162381788G>A	ENST00000367929.2	-	1	128	c.19C>T	c.(19-21)Cat>Tat	p.H7Y	SH2D1B_ENST00000493550.1_5'UTR|SH2D1B_ENST00000359567.3_Missense_Mutation_p.H7Y	NM_053282.4	NP_444512.2	O14796	SH21B_HUMAN	SH2 domain containing 1B	7	SH2.									kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			AGACGTCCATGGTAGTAAGGC	0.522000													11	33					0	0	0.000673444	0	0
CD5L	922	broad.mit.edu	37	1	157803006	157803006	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:157803006C>T	ENST00000368174.4	-	5	1111	c.1015G>A	c.(1015-1017)Gaa>Aaa	p.E339K		NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	339	SRCR 3.				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GCCACATCTTCCTGGTGGGTG	0.542000													17	46					0	0	0.000958276	0	0
PCLO	27445	broad.mit.edu	37	7	82585683	82585683	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:82585683C>T	ENST00000423517.2	-	5	4923	c.4586G>A	c.(4585-4587)cGa>cAa	p.R1529Q	PCLO_ENST00000333891.8_Missense_Mutation_p.R1529Q	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1460					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.R1460L(1)|p.R1529L(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ACTAGTTCTTCGTTTTCTTTG	0.398000													12	82					0	0	0.00136819	0	0
SCN3A	6328	broad.mit.edu	37	2	166011076	166011076	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:166011076C>T	ENST00000360093.3	-	11	1757	c.1266G>A	c.(1264-1266)gtG>gtA	p.V422V	SCN3A_ENST00000283254.7_Silent_p.V422V|SCN3A_ENST00000409101.3_Silent_p.V422V	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	422						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	CCATGGCCACCACAGCCAGGA	0.448000													14	48					0	0	0.00185496	0	0
TTC39C	125488	broad.mit.edu	37	18	21649137	21649137	+	Missense_Mutation	SNP	C	C	T	rs146129310		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:21649137C>T	ENST00000317571.3	+	4	598	c.362C>T	c.(361-363)tCc>tTc	p.S121F	TTC39C_ENST00000304621.6_Missense_Mutation_p.S60F|TTC39C_ENST00000578150.1_Intron	NM_001135993.1	NP_001129465.1	Q8N584	TT39C_HUMAN	tetratricopeptide repeat domain 39C	121							binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	19						GTCCGAAAATCCGCCCCCTCT	0.438000													12	76					0	0	0.00244969	0	0
ANO4	121601	broad.mit.edu	37	12	101520809	101520809	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:101520809G>A	ENST00000392979.3	+	26	3085	c.2724G>A	c.(2722-2724)agG>agA	p.R908R	ANO4_ENST00000392977.3_Silent_p.R943R|ANO4_ENST00000299222.9_Silent_p.R463R|ANO4_ENST00000550015.1_Silent_p.R463R	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	943						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						GAAAGGAGAGGAAGAAGAATG	0.483000										HNSCC(74;0.22)			6	6					0	0	0.00116845	0	0
KRT75	9119	broad.mit.edu	37	12	52827787	52827787	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:52827787C>T	ENST00000252245.5	-	1	522	c.302G>A	c.(301-303)gGg>gAg	p.G101E		NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	101	Gly-rich.|Head.					keratin filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		AACTCCACCCCCATAGCCAAA	0.597000													6	31					0	0	0.00198382	0	0
MUC17	140453	broad.mit.edu	37	7	100685956	100685956	+	Silent	SNP	C	C	T	rs141089332		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:100685956C>T	ENST00000306151.4	+	3	11323	c.11259C>T	c.(11257-11259)acC>acT	p.T3753T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3753	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)					AAATAAGCACCCTTGGGACCA	0.483000													24	139					0	0	0.00395357	0	0
TMC5	79838	broad.mit.edu	37	16	19475205	19475205	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:19475205C>T	ENST00000396229.2	+	8	2093	c.1344C>T	c.(1342-1344)tcC>tcT	p.S448S	TMC5_ENST00000541464.1_Silent_p.S448S|TMC5_ENST00000564959.1_Silent_p.S131S|TMC5_ENST00000561503.1_Silent_p.S89S|TMC5_ENST00000219821.5_Silent_p.S202S|TMC5_ENST00000381414.4_Silent_p.S448S|TMC5_ENST00000542583.2_Silent_p.S448S	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	448						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						GCGTCCTCTCCTATTTCAACT	0.443000													7	38					0	0	0.00198382	0	0
TTC39B	158219	broad.mit.edu	37	9	15203850	15203850	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:15203850G>A	ENST00000355694.2	-	7	766	c.532C>T	c.(532-534)Cta>Tta	p.L178L	TTC39B_ENST00000507285.1_Silent_p.L79L|TTC39B_ENST00000380850.4_Silent_p.L244L|TTC39B_ENST00000507993.1_Silent_p.L79L|TTC39B_ENST00000297615.5_Silent_p.L175L|TTC39B_ENST00000512701.1_Silent_p.L244L|TTC39B_ENST00000541445.1_Silent_p.L178L	NM_001168339.1|NM_152574.2	NP_001161811.1|NP_689787.2	Q5VTQ0	TT39B_HUMAN	tetratricopeptide repeat domain 39B	178							binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)	21						GCTTTCTGTAGGAGACACTCG	0.393000													8	34					0	0	0.000673444	0	0
EML4	27436	broad.mit.edu	37	2	42488356	42488356	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:42488356C>T	ENST00000318522.5	+	4	696	c.434C>T	c.(433-435)cCt>cTt	p.P145L	EML4_ENST00000401738.3_Missense_Mutation_p.P145L|EML4_ENST00000402711.2_Intron	NM_019063.3	NP_061936.2	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	145					microtubule-based process|mitosis	cytoplasm|microtubule	protein binding		EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						CGAGCATCACCTTCTCCCCAG	0.408000			T	ALK	NSCLC								12	45					0	0	0.00136819	0	0
RHAG	6005	broad.mit.edu	37	6	49604504	49604504	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:49604504T>C	ENST00000371175.4	-	1	48	c.22A>G	c.(22-24)Atg>Gtg	p.M8V	RHAG_ENST00000229810.7_Missense_Mutation_p.M8V	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN	Rh-associated glycoprotein	8					carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					ACTATAGCCATGAGAGGGAAT	0.448000													8	67					0	0	0.000274275	0	0
EHHADH	1962	broad.mit.edu	37	3	184953239	184953239	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:184953239G>A	ENST00000231887.3	-	3	265	c.190C>T	c.(190-192)Cgt>Tgt	p.R64C	EHHADH_ENST00000475987.1_5'UTR|EHHADH_ENST00000456310.1_5'UTR	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	64	Enoyl-CoA hydratase / isomerase.					peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		NADH(DB00157)	CTGAAGCCACGAATATCAGCA	0.418000													8	19					0	0	0.000673444	0	0
OR6C70	390327	broad.mit.edu	37	12	55863430	55863430	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:55863430C>T	ENST00000327335.4	-	1	492	c.493G>A	c.(493-495)Gat>Aat	p.D165N	RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA	NM_001005499.1	NP_001005499.1	A6NIJ9	O6C70_HUMAN	olfactory receptor, family 6, subfamily C, member 70	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D165N(1)		autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	18						GCACAGAAATCCAAGTTAAGA	0.368000													14	46					0	0	0.00244969	0	0
ARMC4	55130	broad.mit.edu	37	10	28101452	28101452	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:28101452T>C	ENST00000305242.5	-	20	3216	c.3124A>G	c.(3124-3126)Aga>Gga	p.R1042G	ARMC4_ENST00000537576.1_Intron|ARMC4_ENST00000545014.1_Silent_p.Q607Q	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	1042							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						CAAGTGTATCTTGCCTTCTCT	0.453000													12	57					0	0	0.00185496	0	0
GNG8	94235	broad.mit.edu	37	19	47137369	47137369	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:47137369G>A	ENST00000300873.4	-	2	179	c.177C>T	c.(175-177)ccC>ccT	p.P59P		NM_033258.1	NP_150283.1	Q9UK08	GBG8_HUMAN	guanine nucleotide binding protein (G protein), gamma 8	59					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|synaptic transmission	extracellular region|heterotrimeric G-protein complex	GTPase activity|signal transducer activity						Ovarian(192;0.0798)|all_neural(266;0.107)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.000621)|Epithelial(262;0.0171)|GBM - Glioblastoma multiforme(486;0.0325)		TGTCGCGGAAGGGGTTCTCCG	0.597000													5	22					0	0	0.000602214	0	0
SNHG14	104472715	broad.mit.edu	37	15	25227023	25227023	+	RNA	SNP	A	A	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:25227023A>C	ENST00000551631.2	+	0	326					NR_001293.1																						GATCCTACTCAGTAGTGTCAC	0.368000													18	58					0	0	0.000566183	0	0
SLC17A1	6568	broad.mit.edu	37	6	25801130	25801130	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:25801130C>T	ENST00000244527.4	-	11	1372	c.1257G>A	c.(1255-1257)ttG>ttA	p.L419L	SLC17A1_ENST00000476801.1_Silent_p.L419L|SLC17A1_ENST00000468082.1_Silent_p.L365L|SLC17A1_ENST00000427328.1_Silent_p.L365L	NM_005074.3	NP_005065.2	Q14916	NPT1_HUMAN	solute carrier family 17 (organic anion transporter), member 1	419					sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						GCTTAAGGATCAATCCAGTCA	0.308000													19	142					0	0	0.00152264	0	0
FLG	2312	broad.mit.edu	37	1	152285533	152285533	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:152285533C>T	ENST00000368799.1	-	3	1864	c.1829G>A	c.(1828-1830)gGg>gAg	p.G610E	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	610	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)			TGTCCTGGGCCCCGATGATTG	0.572000									Ichthyosis				21	120					0	0	0.00188189	0	0
ARL4C	10123	broad.mit.edu	37	2	235404927	235404927	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:235404927C>G	ENST00000390645.2	-	1	770	c.304G>C	c.(304-306)Gag>Cag	p.E102Q	ARL4C_ENST00000339728.3_Missense_Mutation_p.E102Q	NM_005737.3	NP_005728.2	P56559	ARL4C_HUMAN	ADP-ribosylation factor-like 4C	102					endocytic recycling|small GTPase mediated signal transduction	cytoplasm|filopodium|nucleus|plasma membrane	alpha-tubulin binding|GTP binding|GTPase activity			endometrium(1)|ovary(1)|skin(1)|urinary_tract(1)	4		Breast(86;0.000596)|Renal(207;0.00339)|all_lung(227;0.00354)|all_hematologic(139;0.0494)|Lung NSC(271;0.0496)|Lung SC(224;0.164)|all_neural(83;0.173)		Epithelial(121;2.6e-19)|BRCA - Breast invasive adenocarcinoma(100;0.000296)|Lung(119;0.002)|LUSC - Lung squamous cell carcinoma(224;0.0048)		TTGGCCTCCTCCAGCCGGTCC	0.657000													10	25					0	0	0.000978159	0	0
SCAPER	49855	broad.mit.edu	37	15	77064234	77064234	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:77064234C>T	ENST00000538941.2	-	10	1298	c.359G>A	c.(358-360)cGa>cAa	p.R120Q	SCAPER_ENST00000324767.7_Missense_Mutation_p.R366Q|SCAPER_ENST00000563290.1_Missense_Mutation_p.R366Q	NM_001145923.1	NP_001139395.1	Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	365						endoplasmic reticulum|nucleus	zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						TTCAGAAGTTCGAACATAATT	0.353000													40	86					0	0	0.00195071	0	0
MC2R	4158	broad.mit.edu	37	18	13884913	13884913	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:13884913G>A	ENST00000327606.3	-	2	785	c.605C>T	c.(604-606)tCc>tTc	p.S202F		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	202					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	CCTGGTGTGGGATCGAGCCAG	0.572000													16	13					0	0	0.000566183	0	0
ATP6V0D1	9114	broad.mit.edu	37	16	67472455	67472455	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:67472455G>A	ENST00000290949.3	-	8	1182	c.1032C>T	c.(1030-1032)atC>atT	p.I344I	ATP6V0D1_ENST00000567694.1_5'UTR|ATP6V0D1_ENST00000540149.1_Silent_p.I385I|ATP6V0D1_ENST00000602876.1_Silent_p.I267I	NM_004691.4	NP_004682.2	P61421	VA0D1_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1	344					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex				large_intestine(3)|lung(3)|urinary_tract(2)	8		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)		TGTAGTTGTCGATTTTGGCGC	0.537000													6	20					0	0	0.00198382	0	0
CD1C	911	broad.mit.edu	37	1	158260966	158260966	+	Missense_Mutation	SNP	C	C	T	rs116683698	by1000genomes	TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:158260966C>T	ENST00000368170.3	+	2	383	c.104C>T	c.(103-105)tCa>tTa	p.S35L		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	35					antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					CAGATCTTCTCATTTGTCAAC	0.478000													11	25					0	0	0.00136819	0	0
RERE	473	broad.mit.edu	37	1	8674734	8674734	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:8674734G>A	ENST00000337907.3	-	5	1042	c.408C>T	c.(406-408)tcC>tcT	p.S136S	RERE_ENST00000400908.2_Silent_p.S136S|RERE_ENST00000400907.2_Silent_p.S136S	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	136	BAH.				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		AACAGGCCTGGGAGTTGTGGA	0.537000													11	41					0	0	0.00185496	0	0
CPD	1362	broad.mit.edu	37	17	28772953	28772953	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:28772953C>T	ENST00000225719.4	+	12	2864	c.2788C>T	c.(2788-2790)Ctt>Ttt	p.L930F	CPD_ENST00000543464.2_Missense_Mutation_p.L683F	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	930	Carboxypeptidase-like 3.				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						GGCTCTGGCTCTTTATCGATA	0.383000													55	24					0	0	0.00361006	0	0
ZNF407	55628	broad.mit.edu	37	18	72589276	72589276	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:72589276C>T	ENST00000299687.5	+	4	5001	c.5001C>T	c.(4999-5001)ttC>ttT	p.F1667F	ZNF407_ENST00000584235.1_3'UTR|ZNF407_ENST00000577538.1_Silent_p.F1667F	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1667					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		ATTACTCATTCCTCACAGCCT	0.547000													10	54					0	0	0.00244969	0	0
UGT2B15	7366	broad.mit.edu	37	4	69536328	69536328	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:69536328C>T	ENST00000338206.5	-	1	18	c.9G>A	c.(7-9)ctG>ctA	p.L3L		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	3					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										ACGTCCATTTCAGAGACATCC	0.398000													75	146					0	0	0.00361006	0	0
CRYBA4	1413	broad.mit.edu	37	22	27026442	27026442	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr22:27026442C>T	ENST00000354760.3	+	6	617	c.582C>T	c.(580-582)atC>atT	p.I194I	CRYBA4_ENST00000466315.1_3'UTR	NM_001886.2	NP_001877.1	P53673	CRBA4_HUMAN	crystallin, beta A4	194	Beta/gamma crystallin 'Greek key' 4.				camera-type eye development|visual perception	soluble fraction	structural constituent of eye lens			large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2)	18						TCCGCAGGATCCAGCAGTGAA	0.597000													5	18					0	0	0.00116845	0	0
FAT3	120114	broad.mit.edu	37	11	92600363	92600363	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:92600363C>T	ENST00000298047.6	+	21	12132	c.12115C>T	c.(12115-12117)Ctg>Ttg	p.L4039L	FAT3_ENST00000533797.1_Silent_p.L374L|FAT3_ENST00000525166.1_Silent_p.L3889L|FAT3_ENST00000409404.2_Silent_p.L4039L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4039	EGF-like 2.				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)				CTGCACTGGCCTGCCATCGGG	0.682000										TCGA Ovarian(4;0.039)			6	6					0	0	0.00307968	0	0
DUSP13	51207	broad.mit.edu	37	10	76861672	76861672	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:76861672C>T	ENST00000491677.2	-	5	881	c.339G>A	c.(337-339)acG>acA	p.T113T	DUSP13_ENST00000372702.3_3'UTR|DUSP13_ENST00000372700.3_Intron|DUSP13_ENST00000607131.1_Silent_p.T77T|DUSP13_ENST00000607009.1_Intron	NM_001007271.1	NP_001007272.1	Q6B8I1	MDSP_HUMAN	dual specificity phosphatase 13	0	Tyrosine-protein phosphatase.					cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					ACGGGCAGTTCGTGCTGCTGG	0.522000													9	33					0	0	0.000274275	0	0
GRID2	2895	broad.mit.edu	37	4	94159621	94159621	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:94159621C>T	ENST00000282020.4	+	8	1483	c.1225C>T	c.(1225-1227)Ctt>Ttt	p.L409F	GRID2_ENST00000510992.1_Missense_Mutation_p.L314F	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	409					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)	TGGAGAAGAGCTTGGCAGAGG	0.418000													9	19					0	0	0.00136819	0	0
CASK	8573	broad.mit.edu	37	X	41646436	41646436	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:41646436G>A	ENST00000318588.9	-	3	318	c.273C>T	c.(271-273)ttC>ttT	p.F91F	CASK_ENST00000361962.4_Silent_p.F91F|CASK_ENST00000378163.1_Silent_p.F91F|CASK_ENST00000378158.1_Silent_p.F91F|CASK_ENST00000421587.2_Silent_p.F91F|CASK_ENST00000378154.1_Silent_p.F91F|CASK_ENST00000378166.4_Silent_p.F91F|CASK_ENST00000442742.2_Silent_p.F91F			O14936	CSKP_HUMAN	calcium/calmodulin-dependent serine protein kinase (MAGUK family)	91	Protein kinase.				cell adhesion	actin cytoskeleton|cytoplasm|nucleus|plasma membrane	ATP binding|calmodulin binding|guanylate kinase activity|protein serine/threonine kinase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1)	32						CTCACAATTCGAAAACCATGT	0.358000													27	69					0	0	0.000720815	0	0
EBF2	64641	broad.mit.edu	37	8	25708263	25708263	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:25708263G>A	ENST00000520164.1	-	15	2080	c.1543C>T	c.(1543-1545)Ccc>Tcc	p.P515S	EBF2_ENST00000535548.1_3'UTR|EBF2_ENST00000408929.3_Missense_Mutation_p.P367S	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	515	Pro/Ser/Thr-rich.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		CCAACGGTGGGACTTGATGAC	0.438000													10	24					0	0	0.000978159	0	0
RARS2	57038	broad.mit.edu	37	6	88265152	88265152	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:88265152G>A	ENST00000369536.5	-	5	414	c.369C>T	c.(367-369)ccC>ccT	p.P123P		NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN	arginyl-tRNA synthetase 2, mitochondrial	123					arginyl-tRNA aminoacylation	mitochondrial matrix	arginine-tRNA ligase activity|ATP binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0456)		TCTTCTTCTGGGGAAGTCCAG	0.368000													13	21					0	0	0.00244969	0	0
DSG3	1830	broad.mit.edu	37	18	29049253	29049253	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:29049253C>T	ENST00000257189.4	+	12	1921	c.1838C>T	c.(1837-1839)tCa>tTa	p.S613L		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	613					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			AGGCCGCACTCAGGGAGGCTG	0.592000													13	53					0	0	0.00136819	0	0
BRINP1	1620	broad.mit.edu	37	9	122075558	122075558	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:122075558C>T	ENST00000265922.3	-	2	537	c.76G>A	c.(76-78)Gaa>Aaa	p.E26K	DBC1_ENST00000373964.2_Missense_Mutation_p.E26K	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		26					cell cycle arrest|cell death	cytoplasm	protein binding	p.E26K(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						CCAGCTGGTTCCTGGTGGGAG	0.517000													15	17					0	0	0.000566183	0	0
OR4K2	390431	broad.mit.edu	37	14	20344609	20344609	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:20344609C>T	ENST00000298642.2	+	1	219	c.183C>T	c.(181-183)ttC>ttT	p.F61F		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	61					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTATGTATTTCCTGCTTACCA	0.403000													19	62					0	0	0.00121646	0	0
SLC4A4	8671	broad.mit.edu	37	4	72316972	72316972	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:72316972G>A	ENST00000340595.3	+	8	1340	c.1144G>A	c.(1144-1146)Gga>Aga	p.G382R	SLC4A4_ENST00000264485.5_Missense_Mutation_p.G426R|SLC4A4_ENST00000351898.6_Missense_Mutation_p.G426R|SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000425175.1_Missense_Mutation_p.G426R|SLC4A4_ENST00000512686.1_Missense_Mutation_p.G382R	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	426						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			TGGAGGTCACGGAGGAGGAGG	0.443000													9	45					0	0	0.000442599	0	0
KCNC2	3747	broad.mit.edu	37	12	75601362	75601362	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:75601362G>A	ENST00000549446.1	-	2	1082	c.402C>T	c.(400-402)ttC>ttT	p.F134F	KCNC2_ENST00000298972.1_Silent_p.F134F|KCNC2_ENST00000540018.1_Silent_p.F134F|KCNC2_ENST00000550433.1_Silent_p.F134F|KCNC2_ENST00000393288.2_Silent_p.F134F|KCNC2_ENST00000350228.2_Silent_p.F134F|KCNC2_ENST00000548513.1_Silent_p.F134F|KCNC2_ENST00000341669.3_Silent_p.F134F	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	134					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						GCTCCTCCTCGAAGAGCGGCC	0.662000													12	20					0	0	0.00185496	0	0
APOB	338	broad.mit.edu	37	2	21233705	21233705	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:21233705C>T	ENST00000233242.1	-	26	6162	c.6035G>A	c.(6034-6036)cGa>cAa	p.R2012Q		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2012					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	AGCCAGAGTTCGTCCAGTAAG	0.433000													110	137					0	0	0.00361006	0	0
GRIA4	2893	broad.mit.edu	37	11	105789468	105789468	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:105789468C>T	ENST00000393127.2	+	11	1746	c.1300C>T	c.(1300-1302)Cat>Tat	p.H434Y	GRIA4_ENST00000530497.1_Missense_Mutation_p.H434Y|GRIA4_ENST00000282499.5_Missense_Mutation_p.H434Y|GRIA4_ENST00000525187.1_Missense_Mutation_p.H434Y	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	434					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)	CAAGAAAAATCATGAAATGTT	0.299000													8	6					0	0	0.000673444	0	0
ATAD3A	55210	broad.mit.edu	37	1	1463114	1463114	+	Silent	SNP	C	C	T	rs74047254		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:1463114C>T	ENST00000378755.5	+	14	1615	c.1521C>T	c.(1519-1521)ttC>ttT	p.F507F	ATAD3A_ENST00000378756.3_Silent_p.F459F|ATAD3A_ENST00000536055.1_Silent_p.F380F	NM_018188.3	NP_060658.3	Q9NVI7	ATD3A_HUMAN	ATPase family, AAA domain containing 3A	507							ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(4)|kidney(6)|large_intestine(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.12e-36)|OV - Ovarian serous cystadenocarcinoma(86;2.18e-22)|Colorectal(212;0.000164)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00233)|BRCA - Breast invasive adenocarcinoma(365;0.00469)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0347)|Lung(427;0.147)		CAGAGCAGTTCGACTGGGCCA	0.597000													13	36					0	0	0.00136819	0	0
MAP3K10	4294	broad.mit.edu	37	19	40719522	40719522	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:40719522C>T	ENST00000253055.3	+	9	2224	c.1936C>T	c.(1936-1938)Ccg>Tcg	p.P646S		NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	646					activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						CGAGCCCTccccgggggcgcg	0.766000													3	2					0	0	6.4e-05	0	0
TGFBI	7045	broad.mit.edu	37	5	135382658	135382658	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:135382658C>T	ENST00000442011.2	+	5	739	c.578C>T	c.(577-579)tCt>tTt	p.S193F	TGFBI_ENST00000305126.8_Missense_Mutation_p.S193F	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	193	FAS1 1.				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ACCCTCACCTCTATGTACCAG	0.522000													5	11					0	0	0.000602214	0	0
RP1	6101	broad.mit.edu	37	8	55540533	55540533	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:55540533G>A	ENST00000220676.1	+	4	4239	c.4091G>A	c.(4090-4092)aGa>aAa	p.R1364K		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1364					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)			GAGTTAGAAAGAGGTGATGAC	0.328000													24	94					0	0	0.00229938	0	0
HTR3C	170572	broad.mit.edu	37	3	183777335	183777335	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:183777335C>T	ENST00000318351.1	+	7	866	c.832C>T	c.(832-834)Cgt>Tgt	p.R278C		NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine (serotonin) receptor 3C, ionotropic	278						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			GAGCGAGAATCGTGCCCCATT	0.547000													18	59					0	0	0.00152264	0	0
PTCHD4	442213	broad.mit.edu	37	6	47846101	47846101	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:47846101C>T	ENST00000339488.4	-	3	2512	c.2479G>A	c.(2479-2481)Gag>Aag	p.E827K		NM_001013732.3	NP_001013754.3	Q6ZW05	CF138_HUMAN	patched domain containing 4	827						integral to membrane	hedgehog receptor activity										TCCTCTCTCTCCTTTCGCTTG	0.413000													9	83					0	0	0.000978159	0	0
ARHGAP8	23779	broad.mit.edu	37	22	45258226	45258226	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr22:45258226C>T	ENST00000517296.3	+	17	1683	c.1683C>T	c.(1681-1683)atC>atT	p.I561I	PRR5-ARHGAP8_ENST00000361473.5_Silent_p.I482I|ARHGAP8_ENST00000389773.5_Silent_p.I473I|ARHGAP8_ENST00000336963.4_3'UTR|ARHGAP8_ENST00000389774.2_Silent_p.I382I|ARHGAP8_ENST00000356099.6_Silent_p.I351I|PRR5-ARHGAP8_ENST00000352766.7_Silent_p.I561I					Rho GTPase activating protein 8											breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(9)|prostate(1)|skin(7)	29		all_neural(38;0.00409)|Ovarian(80;0.00976)|Glioma(61;0.0649)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0204)		TGAATTTGATCTGGCCATCCC	0.532000													7	36					0	0	0.00198382	0	0
OR9A4	130075	broad.mit.edu	37	7	141619141	141619141	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:141619141C>T	ENST00000548136.1	+	1	525	c.466C>T	c.(466-468)Caa>Taa	p.Q156*	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					GTTTCTTTTTCAAATCTGGCC	0.413000													26	132					0	0	0.000720815	0	0
ERV3-1	2086	broad.mit.edu	37	7	64453074	64453074	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:64453074G>A	ENST00000394323.2	-	2	831	c.331C>T	c.(331-333)Ccc>Tcc	p.P111S		NM_001007253.3	NP_001007254.2	Q14264	ENR1_HUMAN		111						virion				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)	16						ttgccagagggaaataccttg	0.443000													7	24					0	0	0.000274275	0	0
SLC22A9	114571	broad.mit.edu	37	11	63141414	63141414	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:63141414G>A	ENST00000279178.3	+	4	959	c.710G>A	c.(709-711)gGa>gAa	p.G237E	SLC22A9_ENST00000310969.4_Silent_p.G185G	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	237					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						ATTACATTGGGAATGTGCCCT	0.473000													4	7					0	0	0.00024832	0	0
DNAH8	1769	broad.mit.edu	37	6	38854576	38854576	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:38854576G>A	ENST00000359357.3	+	55	7872	c.7618G>A	c.(7618-7620)Gag>Aag	p.E2540K	DNAH8_ENST00000441566.1_Missense_Mutation_p.E2504K|DNAH8_ENST00000449981.2_Missense_Mutation_p.E2757K					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GATAACTAATGAGATTGTGCG	0.348000													7	77					0	0	0.00307968	0	0
UBE3C	9690	broad.mit.edu	37	7	156974994	156974994	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:156974994C>T	ENST00000348165.5	+	8	1323	c.963C>T	c.(961-963)ttC>ttT	p.F321F	UBE3C_ENST00000389103.4_Silent_p.F278F	NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	321					protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		TTTTCTATTTCGTTTTAACTG	0.418000													12	91					0	0	0.00244969	0	0
MYF5	4617	broad.mit.edu	37	12	81111097	81111097	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:81111097G>A	ENST00000228644.3	+	1	407	c.255G>A	c.(253-255)cgG>cgA	p.R85R		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	85					muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						TGGATCGGCGGAAGGCAGCCA	0.627000													10	15					0	0	0.000673444	0	0
DENND5A	23258	broad.mit.edu	37	11	9202335	9202335	+	Silent	SNP	T	T	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:9202335T>C	ENST00000328194.3	-	6	1754	c.1434A>G	c.(1432-1434)agA>agG	p.R478R	DENND5A_ENST00000530044.1_Silent_p.R478R	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	478										breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TCACCCCAGTTCTCTTGACCA	0.498000													19	86					0	0	0.00278032	0	0
RDH13	112724	broad.mit.edu	37	19	55559837	55559837	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:55559837G>A	ENST00000396247.3	-	6	777	c.305C>T	c.(304-306)tCg>tTg	p.S102L	RDH13_ENST00000415061.3_Missense_Mutation_p.S173L|CTC-550B14.6_ENST00000585492.1_RNA	NM_138412.3	NP_612421.1	Q8NBN7	RDH13_HUMAN	retinol dehydrogenase 13 (all-trans/9-cis)	173							binding|oxidoreductase activity			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.199)	GBM - Glioblastoma multiforme(193;0.0504)	Vitamin A(DB00162)	GGCCAGGGACGAGAGGTTGAT	0.522000													7	56					0	0	0.00198382	0	0
NDST1	3340	broad.mit.edu	37	5	149925012	149925012	+	Silent	SNP	C	C	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:149925012C>A	ENST00000261797.6	+	11	2611	c.2109C>A	c.(2107-2109)ctC>ctA	p.L703L	NDST1_ENST00000523767.1_Silent_p.L703L	NM_001543.4	NP_001534.1	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1	703	Heparan sulfate N-sulfotransferase 1.				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	p.L703L(1)		breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGACCATCCTCATCAACCCCG	0.602000													24	88					5.77227e-19	1.68997e-18	0.001512	1	0
CALCR	799	broad.mit.edu	37	7	93072988	93072988	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:93072988G>A	ENST00000359558.2	-	11	1131	c.832C>T	c.(832-834)Ctt>Ttt	p.L278F	CALCR_ENST00000426151.1_Missense_Mutation_p.L244F|CALCR_ENST00000360249.4_Missense_Mutation_p.L260F|CALCR_ENST00000394441.1_Missense_Mutation_p.L244F|CALCR_ENST00000421592.1_Missense_Mutation_p.L260F	NM_001164737.1	NP_001158209.1	P30988	CALCR_HUMAN	calcitonin receptor	260					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	AGTGTATGAAGATAGATCCCT	0.438000													38	19					0	0	0.00361006	0	0
TNIK	23043	broad.mit.edu	37	3	170805195	170805195	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:170805195C>T	ENST00000436636.2	-	24	3166	c.2822G>A	c.(2821-2823)gGa>gAa	p.G941E	TNIK_ENST00000488470.1_Missense_Mutation_p.G886E|TNIK_ENST00000284483.8_Missense_Mutation_p.G933E|TNIK_ENST00000475336.1_Missense_Mutation_p.G849E|TNIK_ENST00000538048.1_Missense_Mutation_p.G893E|TNIK_ENST00000341852.6_Missense_Mutation_p.G857E|TNIK_ENST00000357327.5_Missense_Mutation_p.G912E|TNIK_ENST00000470834.1_Missense_Mutation_p.G904E|TNIK_ENST00000369326.5_Missense_Mutation_p.G919E|TNIK_ENST00000460047.1_Missense_Mutation_p.G878E	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	941	Mediates interaction with NEDD4.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			AGTCGGGGTTCCAGCTGGAGA	0.582000													9	37					0	0	0.000673444	0	0
PNPLA6	10908	broad.mit.edu	37	19	7601355	7601355	+	Silent	SNP	C	C	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:7601355C>G	ENST00000221249.6	+	6	650	c.219C>G	c.(217-219)tcC>tcG	p.S73S	PNPLA6_ENST00000450331.3_Silent_p.S73S|PNPLA6_ENST00000414982.3_Silent_p.S121S|PNPLA6_ENST00000545201.2_Silent_p.S73S|PNPLA6_ENST00000600737.1_Silent_p.S112S|CTD-2207O23.10_ENST00000601870.1_3'UTR	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	112					cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						CCACCTCCTCCCTCGTGGATA	0.552000													5	33					0	0	0.00116845	0	0
WFDC11	259239	broad.mit.edu	37	20	44279156	44279156	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:44279156C>T	ENST00000356562.2	-	3	305	c.84G>A	c.(82-84)agG>agA	p.R28R	WFDC11_ENST00000324384.3_Silent_p.R28R			Q8NEX6	WFD11_HUMAN	WAP four-disulfide core domain 11	28						extracellular region				endometrium(1)|lung(4)	5		Myeloproliferative disorder(115;0.0122)				ATCTTTTCTTCCTCATTTCTC	0.493000													6	49					0	0	0.00198382	0	0
P2RY8	286530	broad.mit.edu	37	X	1584846	1584846	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:1584846G>A	ENST00000381297.4	-	2	816	c.606C>T	c.(604-606)ttC>ttT	p.F202F		NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	202						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				ACGGGATGAGGAACAGCAGGA	0.637000			T	CRLF2	"""B-ALL, Downs associated ALL"""								5	18					0	0	0.000602214	0	0
DRD4	1815	broad.mit.edu	37	11	639793	639793	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:639793C>T	ENST00000176183.5	+	3	556	c.544C>T	c.(544-546)Ccc>Tcc	p.P182S	DRD4_ENST00000528733.1_3'UTR	NM_000797.3	NP_000788.2	P21917	DRD4_HUMAN	dopamine receptor D4	182					activation of MAPK activity|adult locomotory behavior|arachidonic acid secretion|behavioral fear response|behavioral response to cocaine|behavioral response to ethanol|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cAMP biosynthetic process|negative regulation of protein secretion|positive regulation of sodium:hydrogen antiporter activity|regulation of dopamine metabolic process|regulation of inhibitory postsynaptic membrane potential|response to amphetamine|response to histamine|social behavior	integral to plasma membrane	dopamine D4 receptor activity|drug binding|potassium channel regulator activity|SH3 domain binding			NS(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.36e-28)|Epithelial(43;2.59e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Apomorphine(DB00714)|Clozapine(DB00363)|Olanzapine(DB00334)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Ropinirole(DB00268)|Thiethylperazine(DB00372)|Ziprasidone(DB00246)	CGGCCGCGACCCCGCCGTGTG	0.716000													4	15					0	0	0.000602214	0	0
PRG4	10216	broad.mit.edu	37	1	186273947	186273947	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:186273947A>T	ENST00000445192.2	+	6	536	c.491A>T	c.(490-492)cAa>cTa	p.Q164L	PRG4_ENST00000367486.3_Intron|PRG4_ENST00000367483.4_Missense_Mutation_p.Q123L|PRG4_ENST00000367484.3_Missense_Mutation_p.Q123L|PRG4_ENST00000367485.4_Intron	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	164	Ser-rich.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						TCTGAAAATCAAGAGtcctcc	0.353000													11	53					0	0	0.000978159	0	0
EMILIN3	90187	broad.mit.edu	37	20	39991483	39991483	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:39991483C>T	ENST00000332312.3	-	4	918	c.726G>A	c.(724-726)ggG>ggA	p.G242G		NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	242						proteinaceous extracellular matrix				biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				GTGTTAGTGGCCCTCTGGCTC	0.592000													10	27					0	0	0.00244969	0	0
PCDHB7	56129	broad.mit.edu	37	5	140553662	140553662	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:140553662G>A	ENST00000231137.3	+	1	1420	c.1246G>A	c.(1246-1248)Gag>Aag	p.E416K		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		416	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGGAACACTGAGTACAACAT	0.517000													12	30					0	0	0.000978159	0	0
AVPR1B	553	broad.mit.edu	37	1	206224443	206224443	+	Translation_Start_Site	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:206224443G>A	ENST00000367126.4	+	1	468	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_000707.3	NP_000698.1	P47901	V1BR_HUMAN	arginine vasopressin receptor 1B	1					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	CCTTGCTCATGGATTCTGGGC	0.602000													42	112					0	0	0.00361006	0	0
RASL10B	91608	broad.mit.edu	37	17	34067432	34067432	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:34067432G>A	ENST00000268864.3	+	3	598	c.221G>A	c.(220-222)tGg>tAg	p.W74*		NM_033315.3	NP_201572.1	Q96S79	RSLAB_HUMAN	RAS-like, family 10, member B	74	Small GTPase-like.				small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			breast(2)|endometrium(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TTGCAGGAGTGGGCAGACACC	0.602000													5	30					0	0	0.00198382	0	0
OR51A4	401666	broad.mit.edu	37	11	4968000	4968000	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:4968000C>T	ENST00000380373.2	-	1	356	c.331G>A	c.(331-333)Gta>Ata	p.V111I	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	111					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)		GACTCCAGTACTGAGAATCCA	0.453000													10	118					0	0	0.00185496	0	0
STARD13	90627	broad.mit.edu	37	13	33760145	33760145	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr13:33760145G>A	ENST00000255486.4	-	1	71	c.15C>T	c.(13-15)tcC>tcT	p.S5S	STARD13_ENST00000399365.3_Intron|STARD13_ENST00000487412.1_Intron|STARD13_ENST00000336934.5_Intron	NM_178007.2	NP_821075.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	0					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		GGAGAACTGAGGAGGGTTCCA	0.502000													5	20					0	0	0.00307968	0	0
SPP1	6696	broad.mit.edu	37	4	88904004	88904004	+	Missense_Mutation	SNP	C	C	T	rs45452992		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:88904004C>T	ENST00000237623.7	+	6	1007	c.859C>T	c.(859-861)Cgt>Tgt	p.R287C	SPP1_ENST00000509659.1_3'UTR|SPP1_ENST00000360804.4_Missense_Mutation_p.R274C|SPP1_ENST00000395080.3_Missense_Mutation_p.R301C	NM_000582.2	NP_000573.1	P10451	OSTP_HUMAN	secreted phosphoprotein 1	301					biomineral tissue development|cell adhesion|decidualization|embryo implantation|ossification|response to vitamin D	extracellular space	cytokine activity	p.R301C(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-05)		CCTGAAATTTCGTATTTCTCA	0.348000													11	49					0	0	0.000673444	0	0
BMP5	653	broad.mit.edu	37	6	55625330	55625330	+	Splice_Site	SNP	A	A	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:55625330A>T	ENST00000370830.3	-	5	1727	c.1027_splice	c.e5-1	p.D343_splice	BMP5_ENST00000446683.2_Splice_Site_p.D343_splice	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	343					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			TTGTGTTATAATCTGAAGATA	0.358000													8	14					0	0	0.00307968	0	0
PRB4	5545	broad.mit.edu	37	12	11461537	11461537	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:11461537C>T	ENST00000279575.1	-	3	413	c.380G>A	c.(379-381)gGa>gAa	p.G127E	PRB4_ENST00000445719.2_Intron|PRB4_ENST00000535904.1_Missense_Mutation_p.G127E	NM_001261399.1|NM_002723.4	NP_001248328.1|NP_002714.2	P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	190	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.		Missing (in allele M and allele S).			extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						CTGGTTGCCTCCTTGTGGGGG	0.602000										HNSCC(22;0.051)			20	46					0	0	0.00229938	0	0
FURIN	5045	broad.mit.edu	37	15	91419086	91419086	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:91419086C>T	ENST00000268171.3	+	2	395	c.116C>T	c.(115-117)cCt>cTt	p.P39L		NM_002569.2	NP_002560.1	P09958	FURIN_HUMAN	furin (paired basic amino acid cleaving enzyme)	39					cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|Notch signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release	cell surface|Golgi lumen|Golgi membrane|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle	metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	36	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			GTGCGCATCCCTGGAGGCCCA	0.622000													19	72					0	0	0.00229938	0	0
ZNF609	23060	broad.mit.edu	37	15	64967429	64967429	+	Silent	SNP	C	C	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:64967429C>G	ENST00000326648.3	+	4	2504	c.2376C>G	c.(2374-2376)gcC>gcG	p.A792A		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	792						nucleus	zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AGGCTGAAGCCGACAAGATCT	0.542000													22	13					0	0	0.00332997	0	0
LAMB4	22798	broad.mit.edu	37	7	107746428	107746428	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:107746428G>A	ENST00000388781.3	-	8	787	c.704C>T	c.(703-705)aCc>aTc	p.T235I	LAMB4_ENST00000205386.4_Missense_Mutation_p.T235I|LAMB4_ENST00000414450.2_Missense_Mutation_p.T235I|LAMB4_ENST00000388780.3_Missense_Mutation_p.T235I	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	235	Laminin N-terminal.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						ATCCCCAAGGGTGTGGAGCTT	0.403000													9	61					0	0	0.000673444	0	0
RBM11	54033	broad.mit.edu	37	21	15592007	15592007	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr21:15592007C>T	ENST00000400577.3	+	2	229	c.220C>T	c.(220-222)Cgt>Tgt	p.R74C	RBM11_ENST00000468643.1_3'UTR	NM_144770.3	NP_658983.3	P57052	RBM11_HUMAN	RNA binding motif protein 11	74	RRM.						nucleotide binding|RNA binding			endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16				Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)		GAATGGAATTCGTTTATATGG	0.388000													9	21					0	0	0.00136819	0	0
AKR1B10	57016	broad.mit.edu	37	7	134222966	134222966	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:134222966C>T	ENST00000359579.4	+	8	1082	c.762C>T	c.(760-762)atC>atT	p.I254I		NM_020299.4	NP_064695.3	O60218	AK1BA_HUMAN	aldo-keto reductase family 1, member B10 (aldose reductase)	254					cellular aldehyde metabolic process|digestion|steroid metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|protein binding			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5)	20						GTTTCCATATCCAGAGGAATG	0.483000													16	137					0	0	0.00152264	0	0
COL9A1	1297	broad.mit.edu	37	6	70961998	70961998	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:70961998C>T	ENST00000357250.6	-	27	1943	c.1785G>A	c.(1783-1785)ggG>ggA	p.G595G	COL9A1_ENST00000489611.1_5'UTR|COL9A1_ENST00000320755.7_Silent_p.G352G|COL9A1_ENST00000370499.4_Silent_p.G352G	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	595	Triple-helical region (COL2).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						GACCAGGCTTCCCTGGAGCAC	0.433000													11	41					0	0	0.00136819	0	0
SLC26A8	116369	broad.mit.edu	37	6	35911850	35911850	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:35911850G>A	ENST00000490799.1	-	20	3093	c.2740C>T	c.(2740-2742)Ccc>Tcc	p.P914S	SLC26A8_ENST00000355574.2_Missense_Mutation_p.P914S|SLC26A8_ENST00000394602.2_Missense_Mutation_p.P809S	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN	solute carrier family 26 (anion exchanger), member 8	914	Interaction with RACGAP1.				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						CTAGATTTGGGGTTGGGCTCC	0.572000													12	83					0	0	0.00136819	0	0
TRAPPC11	60684	broad.mit.edu	37	4	184598669	184598669	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:184598669C>T	ENST00000334690.6	+	8	995	c.793C>T	c.(793-795)Ctg>Ttg	p.L265L	TRAPPC11_ENST00000511409.1_3'UTR|TRAPPC11_ENST00000357207.4_Silent_p.L265L	NM_021942.5	NP_068761.4	Q7Z392	CD041_HUMAN	trafficking protein particle complex 11	265																	AACTAATATTCTGGAAATTAA	0.294000													89	81					0	0	0.00361006	0	0
MUC17	140453	broad.mit.edu	37	7	100678765	100678765	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:100678765C>T	ENST00000306151.4	+	3	4132	c.4068C>T	c.(4066-4068)atC>atT	p.I1356I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1356	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)					CAATCAGCATCCTTTCAACAA	0.458000													34	215					0	0	0.00375469	0	0
NDOR1	27158	broad.mit.edu	37	9	140109371	140109371	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:140109371C>T	ENST00000371521.4	+	8	1049	c.966C>T	c.(964-966)ctC>ctT	p.L322L	NDOR1_ENST00000344894.5_Silent_p.L322L|NDOR1_ENST00000458322.2_Silent_p.L322L|NDOR1_ENST00000427047.2_Silent_p.L288L	NM_001144026.1	NP_001137498.1	Q9UHB4	NDOR1_HUMAN	NADPH dependent diflavin oxidoreductase 1	322	FAD-binding FR-type.				cell death	cytosol|intermediate filament cytoskeleton|nucleus|perinuclear region of cytoplasm	flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding|oxidoreductase activity|protein binding			breast(1)|endometrium(5)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		GTCTATCCCTCCATGAGCTGG	0.632000													9	15					0	0	0.000274275	0	0
CHURC1	91612	broad.mit.edu	37	14	65390783	65390783	+	Silent	SNP	T	T	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:65390783T>C	ENST00000607599.1	+	2	249	c.195T>C	c.(193-195)ttT>ttC	p.F65F	CHURC1_ENST00000549115.1_Silent_p.F65F|CHURC1-FNTB_ENST00000542227.1_5'UTR|CHURC1_ENST00000552002.2_Silent_p.F38F|CHURC1_ENST00000548752.2_Silent_p.F65F|CHURC1_ENST00000359118.2_Silent_p.F38F|CHURC1-FNTB_ENST00000447296.2_Silent_p.F38F	NM_001204063.1|NM_145165.3	NP_001190992.1|NP_660148.3			churchill domain containing 1											breast(1)|pancreas(1)	2				all cancers(60;0.00119)|OV - Ovarian serous cystadenocarcinoma(108;0.0056)|BRCA - Breast invasive adenocarcinoma(234;0.00976)		AGCGGGATTTTATGCTGATCA	0.368000													15	35					0	0	0.00316338	0	0
TNFRSF10D	8793	broad.mit.edu	37	8	23003424	23003424	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:23003424C>T	ENST00000312584.3	-	5	587	c.493G>A	c.(493-495)Ggg>Agg	p.G165R		NM_003840.4	NP_003831.2	Q9UBN6	TR10D_HUMAN	tumor necrosis factor receptor superfamily, member 10d, decoy with truncated death domain	165					anti-apoptosis|apoptosis	integral to membrane	TRAIL binding|transmembrane receptor activity			endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)		TTGACCATCCCTCTGGGACAC	0.562000													17	58					0	0	0.00121646	0	0
CEACAM20	125931	broad.mit.edu	37	19	45033495	45033495	+	RNA	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:45033495C>T	ENST00000454753.1	-	0	316							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20							integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				AAGCAGGATTCCCATCCAGTG	0.582000													13	95					0	0	0.00074312	0	0
ZNF354C	30832	broad.mit.edu	37	5	178504150	178504150	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:178504150C>T	ENST00000315475.6	+	4	539	c.233C>T	c.(232-234)cCt>cTt	p.P78L		NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	78	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|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;0.247)		AGAGAAGTCCCTTCAGATACC	0.463000													13	34					0	0	0.00244969	0	0
HIST1H2BC	8347	broad.mit.edu	37	6	26123986	26123986	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:26123986G>A	ENST00000314332.5	-	1	152	c.147C>T	c.(145-147)gtC>gtT	p.V49V	HIST1H2BC_ENST00000396984.1_Silent_p.V49V			P62807	H2B1C_HUMAN	histone cluster 1, H2bc	49					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	16						TGTCGGGATGGACCTGTTTCA	0.547000													21	163					0	0	0.00106085	0	0
DACH1	1602	broad.mit.edu	37	13	72063173	72063173	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr13:72063173G>A	ENST00000305425.4	-	7	2106	c.1684C>T	c.(1684-1686)Cct>Tct	p.P562S	DACH1_ENST00000359684.2_Missense_Mutation_p.P614S|DACH1_ENST00000354591.4_Missense_Mutation_p.P360S|DACH1_ENST00000313174.7_Missense_Mutation_p.P414S	NM_080759.4	NP_542937.2	Q9UI36	DACH1_HUMAN	dachshund homolog 1 (Drosophila)	612					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		AGTCCATCAGGAAACAGAAAA	0.463000													34	76					0	0	0.00327116	0	0
GPR20	2843	broad.mit.edu	37	8	142367832	142367832	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:142367832G>A	ENST00000377741.3	-	2	282	c.192C>T	c.(190-192)ttC>ttT	p.F64F		NM_005293.2	NP_005284.2	Q99678	GPR20_HUMAN	G protein-coupled receptor 20	64						integral to plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	15	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0415)			GCCCTGCCAGGAAGATGGCTC	0.647000													6	21					0	0	0.00198382	0	0
IL6R	3570	broad.mit.edu	37	1	154422452	154422452	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:154422452C>T	ENST00000368485.3	+	8	1499	c.1062C>T	c.(1060-1062)ctC>ctT	p.L354L	IL6R_ENST00000507256.1_3'UTR|IL6R_ENST00000344086.4_Silent_p.L354L	NM_000565.3	NP_000556.1	P08887	IL6RA_HUMAN	interleukin 6 receptor	354					acute-phase response|ciliary neurotrophic factor-mediated signaling pathway|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|endocrine pancreas development|hepatic immune response|negative regulation of collagen biosynthetic process|negative regulation of interleukin-8 production|positive regulation of activation of Janus kinase activity|positive regulation of anti-apoptosis|positive regulation of chemokine production|positive regulation of interleukin-6 production|positive regulation of leukocyte chemotaxis|positive regulation of MAPKKK cascade|positive regulation of osteoblast differentiation|positive regulation of smooth muscle cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of apoptosis	apical plasma membrane|basolateral plasma membrane|extracellular space|interleukin-6 receptor complex	ciliary neurotrophic factor binding|enzyme binding|protein homodimerization activity		IL6R/ATP8B2(2)	breast(2)|large_intestine(1)|ovary(3)	6	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CGACAAGCCTCCCAGGTAAGG	0.428000													19	47					0	0	0.00229938	0	0
DMD	1756	broad.mit.edu	37	X	31792178	31792178	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:31792178C>T	ENST00000357033.4	-	51	7647	c.7441G>A	c.(7441-7443)Gaa>Aaa	p.E2481K	DMD_ENST00000359836.1_Missense_Mutation_p.E21K|DMD_ENST00000343523.2_Missense_Mutation_p.E21K|DMD_ENST00000378677.2_Missense_Mutation_p.E2477K|DMD_ENST00000378707.3_Missense_Mutation_p.E21K|DMD_ENST00000474231.1_Missense_Mutation_p.E21K|DMD_ENST00000541735.1_Missense_Mutation_p.E21K	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2481					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TCGGTAAGTTCTGTCCAAGCC	0.458000													28	34					0	0	0.00178596	0	0
STIM2	57620	broad.mit.edu	37	4	27024441	27024441	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:27024441C>T	ENST00000382009.3	+	13	2616	c.2349C>T	c.(2347-2349)atC>atT	p.I783I	STIM2_ENST00000412829.2_3'UTR|STIM2_ENST00000237364.5_Silent_p.I775I|STIM2_ENST00000467087.1_Silent_p.I688I|STIM2_ENST00000467011.1_3'UTR|STIM2_ENST00000465503.1_Silent_p.I696I	NM_001169118.1	NP_001162589.1	Q9P246	STIM2_HUMAN	stromal interaction molecule 2	688					activation of store-operated calcium channel activity|calcium ion transport|cellular calcium ion homeostasis|negative regulation of calcium ion transport via store-operated calcium channel activity	endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel regulator activity|calcium ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	25		Breast(46;0.0503)				CCAGTGGCATCCCGGTGCCTA	0.488000													21	36					0	0	0.00152264	0	0
STYXL1	51657	broad.mit.edu	37	7	75634642	75634642	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:75634642G>A	ENST00000451157.1	-	6	703	c.534C>T	c.(532-534)gaC>gaT	p.D178D	STYXL1_ENST00000431581.1_Silent_p.D178D|STYXL1_ENST00000248600.1_Silent_p.D178D|STYXL1_ENST00000359697.3_Silent_p.D178D|STYXL1_ENST00000360591.3_3'UTR|STYXL1_ENST00000340062.5_Silent_p.D82D			Q9Y6J8	STYL1_HUMAN	serine/threonine/tyrosine interacting-like 1	178	Tyrosine-protein phosphatase.				intracellular signal transduction|protein dephosphorylation	intracellular	protein binding|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	10						GAATCTTGGGGTCACAGGCTT	0.438000													13	93					0	0	0.00316338	0	0
HSF5	124535	broad.mit.edu	37	17	56557512	56557512	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:56557512G>A	ENST00000323777.3	-	2	776	c.667C>T	c.(667-669)Cgg>Tgg	p.R223W		NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	223						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ACTGGGGTCCGATCTAAACCT	0.468000													15	82					0	0	0.00400662	0	0
VAT1L	57687	broad.mit.edu	37	16	77896678	77896678	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:77896678C>T	ENST00000302536.2	+	4	766	c.613C>T	c.(613-615)Ccc>Tcc	p.P205S	VAT1L_ENST00000563850.1_3'UTR	NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport 1-like	205							oxidoreductase activity|zinc ion binding	p.P205A(1)		central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						TTCCACTGTCCCCAACGTGAC	0.488000													18	38					0	0	0.00278032	0	0
PDZD2	23037	broad.mit.edu	37	5	32090179	32090179	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:32090179G>A	ENST00000438447.1	+	20	7013	c.6625G>A	c.(6625-6627)Gag>Aag	p.E2209K	PDZD2_ENST00000282493.3_Missense_Mutation_p.E2209K			O15018	PDZD2_HUMAN	PDZ domain containing 2	2209					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CCCCTCGGGGGAGGACCATCT	0.587000													27	86					0	0	0.00106085	0	0
MAGEL2	54551	broad.mit.edu	37	15	23890471	23890471	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:23890471G>A	ENST00000532292.1	-	1	704	c.610C>T	c.(610-612)Ccc>Tcc	p.P204S		NM_019066.4	NP_061939.3			MAGE-like 2											breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		GCAGCAGAGGGGCCTTTAAAG	0.577000													15	61					0	0	0.00316338	0	0
SKOR1	390598	broad.mit.edu	37	15	68120257	68120257	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:68120257C>T	ENST00000380035.2	+	2	2149	c.2091C>T	c.(2089-2091)ccC>ccT	p.P697P	SKOR1_ENST00000341418.5_Intron|SKOR1_ENST00000554054.1_Silent_p.P669P|SKOR1_ENST00000389002.1_Silent_p.P653P|SKOR1_ENST00000554240.1_Silent_p.P658P			P84550	SKOR1_HUMAN	SKI family transcriptional corepressor 1	697					negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|dendrite|neuronal cell body|nucleus	nucleotide binding|SMAD binding|transcription repressor activity			endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1)	23						CCACTGGACCCCCTTCCGCCA	0.756000													4	4					0	0	0.000602214	0	0
ZNF777	27153	broad.mit.edu	37	7	149153091	149153091	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:149153091G>A	ENST00000247930.4	-	2	346	c.23C>T	c.(22-24)cCt>cTt	p.P8L		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	8					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			GAACGACAGAGGTGATGAGCG	0.502000													7	54					0	0	0.000274275	0	0
OR10X1	128367	broad.mit.edu	37	1	158549611	158549611	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:158549611C>T	ENST00000368150.1	-	1	78	c.79G>A	c.(79-81)Gaa>Aaa	p.E27K		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	27					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E27K(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					AGAATGAATTCCTTCAGGATT	0.363000													23	90					0	0	0.00188189	0	0
KSR2	283455	broad.mit.edu	37	12	117962930	117962930	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:117962930G>A	ENST00000425217.1	-	14	1913	c.1859C>T	c.(1858-1860)gCc>gTc	p.A620V	KSR2_ENST00000339824.5_Missense_Mutation_p.A649V|KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000302438.5_Missense_Mutation_p.A346V	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	649					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGTCTGGCTGGCCTTGCGTGG	0.582000													12	33					0	0	0.00185496	0	0
HEPACAM2	253012	broad.mit.edu	37	7	92826821	92826821	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:92826821C>T	ENST00000394468.2	-	5	1192	c.1115G>A	c.(1114-1116)tGg>tAg	p.W372*	HEPACAM2_ENST00000453812.2_Nonsense_Mutation_p.W395*|HEPACAM2_ENST00000440868.1_Nonsense_Mutation_p.W360*|HEPACAM2_ENST00000341723.4_Nonsense_Mutation_p.W360*|HEPACAM2_ENST00000492616.1_5'UTR	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	372						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						ATATTTTTTCCATAGGAAGAG	0.308000													5	55					0	0	0.000602214	0	0
PILRB	29990	broad.mit.edu	37	7	99955936	99955936	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:99955936C>T	ENST00000310771.4	+	15	2507	c.11C>T	c.(10-12)cCc>cTc	p.P4L	PILRB_ENST00000444874.1_Missense_Mutation_p.P4L|PILRB_ENST00000444073.1_Missense_Mutation_p.P4L|PILRB_ENST00000448382.1_Missense_Mutation_p.P126L|PILRB_ENST00000452089.1_Missense_Mutation_p.P4L			Q9UKJ0	PILRB_HUMAN	paired immunoglobin-like type 2 receptor beta	4					activation of transmembrane receptor protein tyrosine kinase activity	integral to plasma membrane	protein binding|receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ATGGGTCGGCCCCTGCTGCTG	0.667000													13	101					0	0	0.000566183	0	0
NEB	4703	broad.mit.edu	37	2	152512872	152512872	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:152512872T>C	ENST00000397345.3	-	49	6492	c.6290A>G	c.(6289-6291)cAa>cGa	p.Q2097R	NEB_ENST00000172853.10_Missense_Mutation_p.Q2097R|NEB_ENST00000604864.1_Missense_Mutation_p.Q2097R|NEB_ENST00000409198.1_Missense_Mutation_p.Q2097R|NEB_ENST00000427231.2_Missense_Mutation_p.Q2097R|NEB_ENST00000603639.1_Missense_Mutation_p.Q2097R	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	2097					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CCGATCAGATTGCATCTTAGC	0.473000													13	39					0	0	0.00136819	0	0
C10orf113	387638	broad.mit.edu	37	10	21414760	21414760	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:21414760A>G	ENST00000534331.1	-	2	510	c.460T>C	c.(460-462)Ttt>Ctt	p.F154L	C10orf113_ENST00000529198.1_3'UTR|NEBL_ENST00000417816.2_Intron|C10orf113_ENST00000377118.4_Missense_Mutation_p.F144L	NM_001010896.2	NP_001010896.2	Q5VZT2	CJ113_HUMAN	chromosome 10 open reading frame 113	154										endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|pancreas(1)	7						ATTTACAAAAAAGTCATTTTC	0.388000													9	70					0	0	0.000673444	0	0
STAT3	6774	broad.mit.edu	37	17	40485735	40485735	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:40485735C>T	ENST00000264657.5	-	10	1317	c.1005G>A	c.(1003-1005)cgG>cgA	p.R335R	STAT3_ENST00000585517.1_Silent_p.R335R|STAT3_ENST00000404395.3_Silent_p.R335R|STAT3_ENST00000389272.3_Silent_p.R237R|STAT3_ENST00000588969.1_Silent_p.R335R	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	335					cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		TGACGAGGGGCCGGTCAGGAT	0.567000									Hyperimmunoglobulin E Recurrent Infection Syndrome				9	42					0	0	0.000673444	0	0
ACTBL2	345651	broad.mit.edu	37	5	56778064	56778064	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:56778064C>T	ENST00000423391.1	-	1	572	c.471G>A	c.(469-471)ggG>ggA	p.G157G	CTD-2023N9.1_ENST00000506106.1_RNA	NM_001017992.3	NP_001017992.1	Q562R1	ACTBL_HUMAN	actin, beta-like 2	157						cytoplasm|cytoskeleton	ATP binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2)	28		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)		TGACCCCATCCCCAGAATCCA	0.552000													7	27					0	0	0.00198382	0	0
MATR3	9782	broad.mit.edu	37	5	138661119	138661119	+	Silent	SNP	T	T	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:138661119T>G	ENST00000394800.2	+	17	2832	c.2283T>G	c.(2281-2283)gtT>gtG	p.V761V	MATR3_ENST00000502499.1_Intron|MATR3_ENST00000509990.1_Intron|MATR3_ENST00000503811.1_Intron|MATR3_ENST00000394805.3_Intron|MATR3_ENST00000510056.1_Intron|MATR3_ENST00000361059.2_Intron|MATR3_ENST00000504203.1_Intron|MATR3_ENST00000502929.1_Silent_p.V761V			P43243	MATR3_HUMAN	matrin 3	715						nuclear inner membrane|nuclear matrix	nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding			breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			ATGGTTTGGTTGAAATTAAGG	0.398000													9	47					0	0	0.000978159	0	0
DDX31	64794	broad.mit.edu	37	9	135538037	135538037	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:135538037G>A	ENST00000372159.3	-	2	587	c.436C>T	c.(436-438)Ccc>Tcc	p.P146S	DDX31_ENST00000480876.1_5'UTR|DDX31_ENST00000544003.1_Missense_Mutation_p.P50S|DDX31_ENST00000310532.2_Missense_Mutation_p.P146S|DDX31_ENST00000438527.3_Missense_Mutation_p.P17S|DDX31_ENST00000372153.1_Missense_Mutation_p.P146S	NM_022779.7	NP_073616.6	Q9H8H2	DDX31_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 31	146						nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		TTCGCTGGGGGAGCCTCACTG	0.438000													7	38					0	0	0.00198382	0	0
NME8	51314	broad.mit.edu	37	7	37901712	37901712	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:37901712G>A	ENST00000199447.4	+	7	725	c.353G>A	c.(352-354)aGa>aAa	p.R118K	EPDR1_ENST00000476620.1_Intron|NME8_ENST00000440017.1_Missense_Mutation_p.R118K	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	118	Thioredoxin.				cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										GATGAGGAGAGAAAAATTGCA	0.338000													9	35					0	0	0.000442599	0	0
CSMD3	114788	broad.mit.edu	37	8	113318415	113318415	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:113318415G>A	ENST00000297405.5	-	51	8136	c.7892C>T	c.(7891-7893)tCc>tTc	p.S2631F	CSMD3_ENST00000343508.3_Missense_Mutation_p.S2591F|CSMD3_ENST00000455883.2_Missense_Mutation_p.S2527F|CSMD3_ENST00000352409.3_Missense_Mutation_p.S2561F	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2631	Sushi 15.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AATCCCACAGGAAATTGCTAG	0.338000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			6	33					0	0	0.00116845	0	0
OR6B1	135946	broad.mit.edu	37	7	143701967	143701967	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:143701967G>A	ENST00000408922.2	+	1	946	c.878G>A	c.(877-879)cGa>cAa	p.R293Q		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R293Q(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					CTAAGAAACCGAGAGGTCAAG	0.433000													10	52					0	0	0.000978159	0	0
AASS	10157	broad.mit.edu	37	7	121719731	121719731	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:121719731G>A	ENST00000393376.1	-	20	2411	c.2316C>T	c.(2314-2316)ccC>ccT	p.P772P	AASS_ENST00000417368.2_Silent_p.P772P|AASS_ENST00000473553.1_5'UTR			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	772	Saccharopine dehydrogenase.				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54					L-Glutamic Acid(DB00142)|NADH(DB00157)	GCTCAGAGGAGGGTGAAATCC	0.403000													12	48					0	0	0.00136819	0	0
LRRTM1	347730	broad.mit.edu	37	2	80529539	80529539	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:80529539C>T	ENST00000295057.3	-	2	2062	c.1406G>A	c.(1405-1407)aGg>aAg	p.R469K	CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000496558.1_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.R469K|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000541047.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	469						axon|endoplasmic reticulum membrane|growth cone|integral to membrane				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						CTTTTGCTTCCTGCGCTGCGT	0.537000										HNSCC(69;0.2)			5	28					0	0	0.000602214	0	0
PRMT3	10196	broad.mit.edu	37	11	20486071	20486071	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:20486071C>T	ENST00000331079.6	+	13	1543	c.1326C>T	c.(1324-1326)atC>atT	p.I442I	PRMT3_ENST00000437750.2_Silent_p.I380I	NM_001145167.1|NM_005788.3	NP_001138639.1|NP_005779.1	O60678	ANM3_HUMAN	protein arginine methyltransferase 3	442							zinc ion binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						CCCTGAAAATCACAAGGACAT	0.378000													13	50					0	0	0.000566183	0	0
TNFRSF21	27242	broad.mit.edu	37	6	47251715	47251715	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:47251715G>A	ENST00000296861.2	-	3	1595	c.1202C>T	c.(1201-1203)aCc>aTc	p.T401I		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	401					cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			CCGGTTCTGGGTTGGAGTCAT	0.522000													10	69					0	0	0.000442599	0	0
RYR2	6262	broad.mit.edu	37	1	237872321	237872321	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:237872321C>T	ENST00000366574.2	+	69	10382	c.10065C>T	c.(10063-10065)atC>atT	p.I3355I	RYR2_ENST00000542537.1_Silent_p.I3339I|RYR2_ENST00000360064.6_Silent_p.I3353I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3355					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AACTCCTCATCCTAGATGAGT	0.463000													6	23					0	0	0.00116845	0	0
MACF1	23499	broad.mit.edu	37	1	39790319	39790319	+	Splice_Site	SNP	T	T	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:39790319T>C	ENST00000564288.1	+	35	5168	c.4389_splice	c.e35-1	p.V1464_splice	MACF1_ENST00000372915.3_Splice_Site_p.V1469_splice|MACF1_ENST00000317713.7_Splice_Site_p.V1469_splice|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000539005.1_Splice_Site_p.V1469_splice|MACF1_ENST00000361689.2_Splice_Site_p.V1469_splice|MACF1_ENST00000567887.1_Splice_Site_p.V1501_splice|MACF1_ENST00000545844.1_Splice_Site_p.V1469_splice			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1469					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ACCATGTAGGTTCTGTCAGAA	0.308000													22	70					0	0	0.00229938	0	0
AGL	178	broad.mit.edu	37	1	100366397	100366397	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:100366397C>T	ENST00000294724.4	+	26	4046	c.3568C>T	c.(3568-3570)Cct>Tct	p.P1190S	AGL_ENST00000370163.3_Missense_Mutation_p.P1190S|AGL_ENST00000370161.2_Missense_Mutation_p.P1174S|AGL_ENST00000361302.3_Missense_Mutation_p.P1174S|AGL_ENST00000370165.3_Missense_Mutation_p.P1190S|AGL_ENST00000361915.3_Missense_Mutation_p.P1190S|AGL_ENST00000361522.4_Missense_Mutation_p.P1173S	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	1190					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		TGATTCTGCTCCTTTGCCTGC	0.338000													48	59					0	0	0.00361006	0	0
TBC1D9B	23061	broad.mit.edu	37	5	179306087	179306087	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:179306087G>A	ENST00000356834.3	-	9	1564	c.1527C>T	c.(1525-1527)atC>atT	p.I509I	TBC1D9B_ENST00000355235.3_Silent_p.I509I	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	509	Rab-GAP TBC.					integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGCTCTCAGGGATACCCTTCA	0.627000													4	19					0	0	0.00116845	0	0
TTC26	79989	broad.mit.edu	37	7	138827047	138827047	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:138827047A>G	ENST00000464848.1	+	5	475	c.395A>G	c.(394-396)cAc>cGc	p.H132R	TTC26_ENST00000481482.1_3'UTR|TTC26_ENST00000474035.2_Missense_Mutation_p.H132R|TTC26_ENST00000430935.1_Missense_Mutation_p.H132R|TTC26_ENST00000343187.4_Missense_Mutation_p.H101R|TTC26_ENST00000495038.1_Missense_Mutation_p.H132R|TTC26_ENST00000478836.2_Missense_Mutation_p.H132R			A0AVF1	TTC26_HUMAN	tetratricopeptide repeat domain 26	132							binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	24						CACTTGGCTCACAAGGTATTT	0.328000													25	173					0	0	0.00106085	0	0
KRTAP3-3	85293	broad.mit.edu	37	17	39150152	39150152	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:39150152G>C	ENST00000391586.1	-	1	233	c.198C>G	c.(196-198)ttC>ttG	p.F66L		NM_033185.2	NP_149441.1	Q9BYR6	KRA33_HUMAN	keratin associated protein 3-3	66						keratin filament	structural molecule activity			lung(2)|prostate(2)	4		Breast(137;0.00043)				AGTTGAGCAGGAAGCAGGTGG	0.617000													12	57					0	0	0.000978159	0	0
PPP4R4	57718	broad.mit.edu	37	14	94731805	94731805	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:94731805C>T	ENST00000304338.3	+	21	2433	c.2279C>T	c.(2278-2280)tCg>tTg	p.S760L		NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	760						cytoplasm|protein serine/threonine phosphatase complex	protein binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						GTCACCCCATCGACAAGTAAG	0.373000													11	19					0	0	0.000978159	0	0
ELAVL2	1993	broad.mit.edu	37	9	23704940	23704940	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:23704940G>A	ENST00000397312.2	-	4	737	c.463C>T	c.(463-465)Cgt>Tgt	p.R155C	ELAVL2_ENST00000380117.1_Missense_Mutation_p.R155C|ELAVL2_ENST00000223951.6_Missense_Mutation_p.R155C|ELAVL2_ENST00000544538.1_Missense_Mutation_p.R155C|ELAVL2_ENST00000380110.4_Missense_Mutation_p.R184C	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	155	RRM 2.				regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		ACAAGAATACGAGAAGTAATA	0.418000													37	28					0	0	0.00128727	0	0
NLRP5	126206	broad.mit.edu	37	19	56515282	56515282	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:56515282C>T	ENST00000390649.3	+	2	263	c.263C>T	c.(262-264)tCt>tTt	p.S88F		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	88	DAPIN.					mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		AAGAAGAAATCTTCAGAATCG	0.438000													17	60					0	0	0.00400662	0	0
PIGV	55650	broad.mit.edu	37	1	27120625	27120625	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:27120625C>T	ENST00000374145.1	+	3	782	c.100C>T	c.(100-102)Cca>Tca	p.P34S	PIGV_ENST00000078527.4_Missense_Mutation_p.P34S|PIGV_ENST00000449950.2_Silent_p.S4S	NM_001202554.1	NP_001189483.1	Q9NUD9	PIGV_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class V	34					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	glycolipid mannosyltransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	14		all_cancers(24;3.93e-26)|all_epithelial(13;3.96e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.26e-54)|Epithelial(14;2.85e-53)|OV - Ovarian serous cystadenocarcinoma(117;1.91e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000504)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.0222)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227)		TGCCATCATCCCAGATCACCA	0.493000													14	63					0	0	0.000958276	0	0
CCDC178	374864	broad.mit.edu	37	18	30936296	30936296	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:30936296A>T	ENST00000383096.3	-	7	545	c.363T>A	c.(361-363)ttT>ttA	p.F121L	CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000402325.1_Missense_Mutation_p.F121L|CCDC178_ENST00000403303.1_Missense_Mutation_p.F121L|CCDC178_ENST00000300227.8_Missense_Mutation_p.F121L|CCDC178_ENST00000583930.1_Missense_Mutation_p.F121L|CCDC178_ENST00000579947.1_Missense_Mutation_p.F121L|CCDC178_ENST00000406524.2_Missense_Mutation_p.F121L					coiled-coil domain containing 178																		ACCATTCTTCAAAAGAAGTTT	0.234000													5	8					0	0	0.00116845	0	0
PIGV	55650	broad.mit.edu	37	1	27124247	27124247	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:27124247C>T	ENST00000374145.1	+	4	2076	c.1394C>T	c.(1393-1395)tCt>tTt	p.S465F	PIGV_ENST00000078527.4_Missense_Mutation_p.S465F|PIGV_ENST00000449950.2_Missense_Mutation_p.S237F	NM_001202554.1	NP_001189483.1	Q9NUD9	PIGV_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class V	465					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	glycolipid mannosyltransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	14		all_cancers(24;3.93e-26)|all_epithelial(13;3.96e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.26e-54)|Epithelial(14;2.85e-53)|OV - Ovarian serous cystadenocarcinoma(117;1.91e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000504)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.0222)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227)		AAAACCTGTTCTCCAGTCACA	0.502000													20	51					0	0	0.00188189	0	0
GRAMD1C	54762	broad.mit.edu	37	3	113658824	113658824	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:113658824C>T	ENST00000358160.4	+	16	2275	c.1783C>T	c.(1783-1785)Caa>Taa	p.Q595*	GRAMD1C_ENST00000472026.1_Nonsense_Mutation_p.Q428*|GRAMD1C_ENST00000452134.2_Nonsense_Mutation_p.Q324*|GRAMD1C_ENST00000479212.1_3'UTR|GRAMD1C_ENST00000440446.2_Nonsense_Mutation_p.Q390*	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	595						integral to membrane				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						TCTCCGCCTCCAAGAAGAGAA	0.373000													11	70					0	0	0.00244969	0	0
SPRR2F	6705	broad.mit.edu	37	1	153085054	153085054	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:153085054C>T	ENST00000468739.1	-	2	216	c.156G>A	c.(154-156)caG>caA	p.Q52Q	SPRR2B_ENST00000368752.4_Intron	NM_001014450.1	NP_001014450.1	Q96RM1	SPR2F_HUMAN	small proline-rich protein 2F	52					keratinization	cornified envelope|cytoplasm				large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	4	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GAGGACATTTCTGCTGGCACT	0.582000													20	139					0	0	0.00332997	0	0
ZPBP	11055	broad.mit.edu	37	7	49977183	49977183	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:49977183C>T	ENST00000046087.2	-	8	1066	c.997G>A	c.(997-999)Gga>Aga	p.G333R	ZPBP_ENST00000491129.1_Intron|ZPBP_ENST00000419417.1_Missense_Mutation_p.G332R	NM_001159878.1|NM_007009.2	NP_001153350.1|NP_008940.2	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein	333					binding of sperm to zona pellucida	extracellular region				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					CAATGAATTCCATCACGGGGG	0.353000													15	101					0	0	0.00121646	0	0
E2F8	79733	broad.mit.edu	37	11	19256297	19256297	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:19256297G>A	ENST00000527884.1	-	5	992	c.760C>T	c.(760-762)Cgg>Tgg	p.R254W	E2F8_ENST00000250024.4_Missense_Mutation_p.R254W|RP11-428C19.4_ENST00000527978.1_RNA	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	254					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TCACCTGCCCGAAATTCCACT	0.453000													21	36					0	0	0.00278032	0	0
DSCAM	1826	broad.mit.edu	37	21	41465678	41465678	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr21:41465678C>T	ENST00000400454.1	-	21	4297	c.3820G>A	c.(3820-3822)Gaa>Aaa	p.E1274K		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1274	Fibronectin type-III 4.				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)				GTGATGATTTCACTGCTGTTG	0.468000													4	8					0	0	0.00024832	0	0
MAGEC2	51438	broad.mit.edu	37	X	141291335	141291335	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:141291335C>T	ENST00000247452.3	-	3	786	c.439G>A	c.(439-441)Gag>Aag	p.E147K		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	147	MAGE.					cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					TCCACTAACTCGGCCACCTTT	0.493000										HNSCC(46;0.14)			32	68					0	0	0.00327116	0	0
RNFT2	84900	broad.mit.edu	37	12	117187937	117187937	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:117187937C>T	ENST00000257575.4	+	4	608	c.375C>T	c.(373-375)tcC>tcT	p.S125S	RNFT2_ENST00000392549.2_Silent_p.S125S|RNFT2_ENST00000407967.3_Silent_p.S125S|RNFT2_ENST00000319176.7_Silent_p.S125S			Q96EX2	RNFT2_HUMAN	ring finger protein, transmembrane 2	125	His-rich.					integral to membrane	zinc ion binding			endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	6	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.034)		GCGGGGGCTCCCTGCTGCAGC	0.761000													3	2					0	0	0.000602214	0	0
LRRC49	54839	broad.mit.edu	37	15	71211413	71211413	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:71211413C>T	ENST00000260382.5	+	7	852	c.592C>T	c.(592-594)Cat>Tat	p.H198Y	LRRC49_ENST00000560691.1_5'UTR|LRRC49_ENST00000560369.1_Missense_Mutation_p.H203Y|LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000443425.2_Missense_Mutation_p.H154Y|LRRC49_ENST00000544974.2_Missense_Mutation_p.H188Y	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	198						cytoplasm|microtubule		p.H198Y(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						AAATATTAATCATTTGTGTGA	0.313000													14	75					0	0	0.00400662	0	0
MAP1B	4131	broad.mit.edu	37	5	71494963	71494963	+	Silent	SNP	G	G	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:71494963G>T	ENST00000296755.7	+	5	6079	c.5781G>T	c.(5779-5781)ggG>ggT	p.G1927G		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1927						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AGACCATTGGGAAAACTACCA	0.463000													10	37					3.07112e-06	8.92309e-06	0.000978159	1	0
PEG10	23089	broad.mit.edu	37	7	94293378	94293378	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:94293378G>A	ENST00000482108.1	+	2	989	c.510G>A	c.(508-510)aaG>aaA	p.K170K	PEG10_ENST00000488574.1_Silent_p.K170K	NM_001040152.1|NM_001172438.1|NM_001184962.1	NP_001035242.1|NP_001165909.1|NP_001171891.1	Q86TG7	PEG10_HUMAN	paternally expressed 10	170	Necessary for interaction with ALK1.				apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1)	21	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			CCAAACGCAAGATCAGACGCC	0.537000													19	151					0	0	0.00188189	0	0
SPATA31A6	389730	broad.mit.edu	37	9	43625319	43625319	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:43625319C>T	ENST00000332857.6	-	4	3396	c.3368G>A	c.(3367-3369)gGa>gAa	p.G1123E		NM_001145196.1	NP_001138668.1			SPATA31 subfamily A, member 6																		AGTCCTCAATCCTTCAAGCCT	0.473000													25	61					0	0	0.00222228	0	0
CEACAM6	4680	broad.mit.edu	37	19	42260663	42260663	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:42260663G>A	ENST00000199764.6	+	2	438	c.220G>A	c.(220-222)Gat>Aat	p.D74N	CEA_ENST00000598976.1_Intron	NM_002483.4	NP_002474.3	P40199	CEAM6_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)	74	Ig-like V-type.				cell-cell signaling|signal transduction	anchored to membrane|integral to plasma membrane				breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)		CGAAAGAGTGGATGGCAACAG	0.507000													14	66					0	0	0.00316338	0	0
AFF3	3899	broad.mit.edu	37	2	100625353	100625353	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:100625353C>T	ENST00000317233.4	-	4	330	c.95G>A	c.(94-96)cGa>cAa	p.R32Q	AFF3_ENST00000356421.2_Missense_Mutation_p.R57Q|AFF3_ENST00000409236.1_Missense_Mutation_p.R32Q|AFF3_ENST00000409579.1_Missense_Mutation_p.R57Q	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	32					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						TCTTCTTTCTCGTTCTTTCCT	0.393000													8	17					0	0	0.000274275	0	0
DDX60L	91351	broad.mit.edu	37	4	169374299	169374299	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:169374299C>T	ENST00000511577.1	-	8	1219	c.972G>A	c.(970-972)agG>agA	p.R324R	DDX60L_ENST00000505890.1_Silent_p.R324R|DDX60L_ENST00000260184.7_Silent_p.R324R			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	324							ATP binding|ATP-dependent helicase activity|RNA binding	p.W322_L330delWIRNSDSFL(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		AATCACTGTTCCTAATCCAAG	0.368000													6	32					0	0	0.000274275	0	0
HNF1A	6927	broad.mit.edu	37	12	121431351	121431351	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:121431351G>A	ENST00000257555.6	+	3	781	c.555G>A	c.(553-555)ctG>ctA	p.L185L	HNF1A_ENST00000538626.1_Intron|HNF1A_ENST00000402929.1_Silent_p.L185L|HNF1A_ENST00000541395.1_Silent_p.L185L|HNF1A_ENST00000544413.1_Silent_p.L185L|HNF1A_ENST00000543427.1_Silent_p.L68L|HNF1A_ENST00000400024.2_Silent_p.L185L			P20823	HNF1A_HUMAN	HNF1 homeobox A	185					glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					AGGGAGGGCTGATTGAAGAGC	0.597000									Hepatic Adenoma, Familial Clustering of				28	97					0	0	0.001512	0	0
EIF2AK2	5610	broad.mit.edu	37	2	37334419	37334419	+	Silent	SNP	A	A	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:37334419A>G	ENST00000233057.4	-	17	1975	c.1653T>C	c.(1651-1653)tgT>tgC	p.C551C	EIF2AK2_ENST00000395127.2_Silent_p.C551C|EIF2AK2_ENST00000405334.1_Silent_p.C510C	NM_001135651.2	NP_001129123.1	P19525	E2AK2_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 2	551					evasion by virus of host immune response|modulation by virus of host cellular process|negative regulation of osteoblast proliferation|protein autophosphorylation|response to virus|viral infectious cycle	cytosol	ATP binding|double-stranded RNA binding|eukaryotic translation initiation factor 2alpha kinase activity|protein binding|protein phosphatase type 2A regulator activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)	22		all_hematologic(82;0.248)				AAGGGCTCTAACATGTGTGTC	0.358000													24	33					0	0	0.000720815	0	0
HVCN1	84329	broad.mit.edu	37	12	111098996	111098996	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:111098996C>T	ENST00000356742.5	-	3	1032	c.279G>A	c.(277-279)agG>agA	p.R93R	HVCN1_ENST00000548312.1_Silent_p.R93R|HVCN1_ENST00000242607.8_Silent_p.R93R|HVCN1_ENST00000439744.2_Silent_p.R73R			Q96D96	HVCN1_HUMAN	hydrogen voltage-gated channel 1	93					response to pH|response to zinc ion	integral to membrane	voltage-gated proton channel activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						TGAACAGTTTCCTCAACATGC	0.657000													20	24					0	0	0.00188189	0	0
EFTUD1	79631	broad.mit.edu	37	15	82532857	82532857	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:82532857G>A	ENST00000268206.7	-	6	586	c.418C>T	c.(418-420)Cgt>Tgt	p.R140C	EFTUD1_ENST00000359445.3_Missense_Mutation_p.R89C	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain containing 1	140					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						AAAACCGGACGGATGTTTTCA	0.368000													7	41					0	0	0.00307968	0	0
OR51D1	390038	broad.mit.edu	37	11	4661092	4661092	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:4661092C>T	ENST00000357605.2	+	1	148	c.72C>T	c.(70-72)ttC>ttT	p.F24F		NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D, member 1	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAGCATACTTCCTTTTGGTGG	0.502000													25	52					0	0	0.00395357	0	0
LRRC3B	116135	broad.mit.edu	37	3	26751356	26751356	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:26751356G>A	ENST00000396641.2	+	2	785	c.193G>A	c.(193-195)Gaa>Aaa	p.E65K	LRRC3B_ENST00000456208.2_Missense_Mutation_p.E65K|LRRC3B_ENST00000417744.1_Missense_Mutation_p.E65K	NM_052953.2	NP_443185.1	Q96PB8	LRC3B_HUMAN	leucine rich repeat containing 3B	65						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						TCTTCCTCCTGAAACAGTCTT	0.418000													6	21					0	0	0.00198382	0	0
SCN5A	6331	broad.mit.edu	37	3	38592526	38592526	+	Silent	SNP	C	C	T	rs41311121		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:38592526C>T	ENST00000413689.1	-	28	5530	c.5337G>A	c.(5335-5337)acG>acA	p.T1779T	SCN5A_ENST00000333535.4_Silent_p.T1779T|SCN5A_ENST00000414099.2_Silent_p.T1761T|SCN5A_ENST00000450102.2_Silent_p.T1725T|SCN5A_ENST00000449557.2_Silent_p.T1725T|SCN5A_ENST00000443581.1_Silent_p.T1778T|SCN5A_ENST00000425664.1_Silent_p.T1761T|SCN5A_ENST00000451551.2_Silent_p.T1725T|SCN5A_ENST00000455624.2_Silent_p.T1746T|SCN5A_ENST00000423572.2_Silent_p.T1778T	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1779					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	TGCTCTCCTCCGTGGCCACGC	0.512000													13	38					0	0	0.000566183	0	0
LAMA2	3908	broad.mit.edu	37	6	129637182	129637182	+	Splice_Site	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:129637182G>A	ENST00000421865.2	+	27	3973		c.e27-1			NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2						cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CTTGTTAACAGAAAGAATGGA	0.343000													18	33					0	0	0.00074312	0	0
KRT71	112802	broad.mit.edu	37	12	52944022	52944022	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:52944022C>T	ENST00000267119.5	-	2	516	c.447G>A	c.(445-447)cgG>cgA	p.R149R		NM_033448.2	NP_258259.1	Q3SY84	K2C71_HUMAN	keratin 71	149	Coil 1A.|Rod.						structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		GCTCCAGGAACCGCACCTGGA	0.532000													7	28					0	0	0.000274275	0	0
GPR98	84059	broad.mit.edu	37	5	90002143	90002143	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:90002143C>T	ENST00000405460.2	+	38	8758	c.8662C>T	c.(8662-8664)Cct>Tct	p.P2888S		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2888	Calx-beta 20.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TGATTTTGTCCCTATCATTGG	0.398000													7	25					0	0	0.00198382	0	0
DCC	1630	broad.mit.edu	37	18	50985602	50985602	+	Splice_Site	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:50985602G>A	ENST00000442544.2	+	24	4009	c.3392_splice	c.e24-1	p.K1131_splice	DCC_ENST00000581580.1_Splice_Site_p.K766_splice	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	1131					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TGTTCCATAGGAAACGGGCCA	0.443000													24	14					0	0	0.000878237	0	0
PHF23	79142	broad.mit.edu	37	17	7139776	7139776	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:7139776G>A	ENST00000320316.3	-	4	696	c.470C>T	c.(469-471)aCc>aTc	p.T157I	PHF23_ENST00000454255.2_Missense_Mutation_p.T153I|PHF23_ENST00000571362.1_Missense_Mutation_p.T90I|PHF23_ENST00000576955.1_Missense_Mutation_p.T27I	NM_024297.2	NP_077273.2	Q9BUL5	PHF23_HUMAN	PHD finger protein 23	157							zinc ion binding			breast(4)|kidney(2)|large_intestine(6)|lung(3)	15						GGGCCGGGAGGTATGTGTCAG	0.572000													10	38					0	0	0.000673444	0	0
UBR5	51366	broad.mit.edu	37	8	103291105	103291105	+	Silent	SNP	G	G	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:103291105G>T	ENST00000520539.1	-	44	6843	c.6237C>A	c.(6235-6237)gcC>gcA	p.A2079A	UBR5_ENST00000521922.1_Silent_p.A2073A|UBR5_ENST00000220959.4_Silent_p.A2079A	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2079					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TCCCACTACTGGCAGATGAAG	0.353000													12	390					0.00316338	0.0091111	0.00316338	1	0
HMCN1	83872	broad.mit.edu	37	1	185902767	185902767	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:185902767G>A	ENST00000271588.4	+	11	1868	c.1639G>A	c.(1639-1641)Gtg>Atg	p.V547M	HMCN1_ENST00000367492.2_Missense_Mutation_p.V547M	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	547	Ig-like C2-type 2.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CATCAGTGCGGTGGATTACAA	0.478000													9	33					0	0	0.000274275	0	0
OR1C1	26188	broad.mit.edu	37	1	247920929	247920929	+	Silent	SNP	G	G	A	rs149265525		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:247920929G>A	ENST00000408896.2	-	1	1053	c.780C>T	c.(778-780)ttC>ttT	p.F260F		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	260					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F260F(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			ATGAAGGGCTGAAATAGACGG	0.517000													6	22					0	0	0.00116845	0	0
MUC4	4585	broad.mit.edu	37	3	195475828	195475828	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:195475828C>T	ENST00000463781.3	-	24	16438	c.15979G>A	c.(15979-15981)Ggc>Agc	p.G5327S	MUC4_ENST00000346145.4_Missense_Mutation_p.G1091S|MUC4_ENST00000475231.1_Missense_Mutation_p.G5275S|MUC4_ENST00000349607.4_Missense_Mutation_p.G1040S	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	2084					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TCACAGTAGCCCCTACTGCAC	0.642000													5	30					0	0	0.000602214	0	0
OPTC	26254	broad.mit.edu	37	1	203467963	203467963	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:203467963G>A	ENST00000367222.2	+	4	641	c.525G>A	c.(523-525)ggG>ggA	p.G175G		NM_014359.3	NP_055174.1	Q9UBM4	OPT_HUMAN	opticin	175						proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			breast(1)|cervix(1)|kidney(5)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.109)			ACTTCAAAGGGCTGAGTATGT	0.557000													7	33					0	0	0.00198382	0	0
SH3BP1	23616	broad.mit.edu	37	22	38061867	38061867	+	Silent	SNP	T	T	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr22:38061867T>C	ENST00000599616.1	+	16	1807	c.1807T>C	c.(1807-1809)Ttg>Ctg	p.L603L	PDXP_ENST00000403251.1_Silent_p.L77L|PDXP_ENST00000215904.6_Silent_p.L294L			Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1	0					signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					GACAGAGGGGTTGGAGGACTG	0.632000													6	22					0	0	0.00116845	0	0
ATP2B4	493	broad.mit.edu	37	1	203682354	203682354	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:203682354C>T	ENST00000357681.5	+	14	3396	c.2273C>T	c.(2272-2274)cCc>cTc	p.P758L	ATP2B4_ENST00000367218.3_Missense_Mutation_p.P758L|ATP2B4_ENST00000391954.2_Missense_Mutation_p.P758L|ATP2B4_ENST00000341360.2_Missense_Mutation_p.P758L|ATP2B4_ENST00000367219.3_Missense_Mutation_p.P746L	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	758					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CGATCTTCTCCCACTGACAAG	0.552000													8	70					0	0	0.000274275	0	0
CDC20B	166979	broad.mit.edu	37	5	54423127	54423127	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:54423127G>A	ENST00000334206.5	-	8	1123	c.947C>T	c.(946-948)tCa>tTa	p.S316L	CDC20B_ENST00000322374.6_Missense_Mutation_p.S316L|CDC20B_ENST00000381375.2_Missense_Mutation_p.S316L|CDC20B_ENST00000296733.1_Missense_Mutation_p.S316L			Q86Y33	CD20B_HUMAN	cell division cycle 20B	316										kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			CCCAACTACTGACAAATGACC	0.408000													25	60					0	0	0.00178596	0	0
PALMD	54873	broad.mit.edu	37	1	100155137	100155137	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:100155137C>T	ENST00000263174.4	+	7	1696	c.1321C>T	c.(1321-1323)Cat>Tat	p.H441Y	PALMD_ENST00000605497.1_Missense_Mutation_p.H441Y	NM_017734.4	NP_060204.1	Q9NP74	PALMD_HUMAN	palmdelphin	441					regulation of cell shape	cytoplasm|membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2)	31		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)		TGGGATCATCCATGCTGAGCT	0.468000													8	13					0	0	0.00307968	0	0
GTF2IRD2P1	401375	broad.mit.edu	37	7	72663984	72663984	+	RNA	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:72663984C>T	ENST00000425256.1	-	0	916					NR_002164.1																						GAACTGATTTCCAGATAGCCG	0.493000													17	55					0	0	0.00332997	0	0
CCDC88C	440193	broad.mit.edu	37	14	91791245	91791245	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:91791245C>T	ENST00000389857.6	-	12	1306	c.1220G>A	c.(1219-1221)cGa>cAa	p.R407Q		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	407					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				CTCCTCAATTCGTTTCTTATC	0.552000													7	25					0	0	0.000274275	0	0
HEPHL1	341208	broad.mit.edu	37	11	93800744	93800744	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:93800744G>A	ENST00000315765.9	+	5	899	c.891G>A	c.(889-891)atG>atA	p.M297I		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	297	Plastocyanin-like 2.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				TATTTGGAATGGGGAATGAAA	0.483000													7	37					0	0	0.00307968	0	0
MCC	4163	broad.mit.edu	37	5	112406831	112406831	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:112406831C>T	ENST00000302475.4	-	10	1878	c.1315G>A	c.(1315-1317)Gaa>Aaa	p.E439K	MCC_ENST00000514701.3_5'UTR|MCC_ENST00000408903.3_Missense_Mutation_p.E629K|MCC_ENST00000515367.2_Missense_Mutation_p.E376K	NM_002387.2	NP_002378.1	P23508	CRCM_HUMAN	mutated in colorectal cancers	439					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		GCATTGGATTCGTATTTTCCC	0.507000													24	76					0	0	0.00395357	0	0
LRRC61	65999	broad.mit.edu	37	7	150034284	150034284	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:150034284C>T	ENST00000359623.4	+	3	922	c.334C>T	c.(334-336)Ccg>Tcg	p.P112S	LRRC61_ENST00000493307.1_Missense_Mutation_p.P112S|LRRC61_ENST00000323078.7_Missense_Mutation_p.P112S	NM_001142928.1	NP_001136400.1	Q9BV99	LRC61_HUMAN	leucine rich repeat containing 61	112										endometrium(2)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(82;0.011)			ACTGGCCACCCCGGGCCAGCT	0.642000													7	22					0	0	0.00198382	0	0
ZNRF3	84133	broad.mit.edu	37	22	29445491	29445491	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr22:29445491C>T	ENST00000544604.2	+	8	1497	c.1322C>T	c.(1321-1323)tCc>tTc	p.S441F	ZNRF3_ENST00000402174.1_Missense_Mutation_p.S341F|ZNRF3_ENST00000406323.3_Missense_Mutation_p.S341F|ZNRF3_ENST00000332811.4_Missense_Mutation_p.S341F	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	441						integral to membrane	zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						CGGGCCTACTCCCCAGCCCAC	0.647000													5	22					0	0	0.000602214	0	0
PTPRD	5789	broad.mit.edu	37	9	8504401	8504401	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:8504401C>T	ENST00000381196.4	-	20	2225	c.1682G>A	c.(1681-1683)cGa>cAa	p.R561Q	PTPRD_ENST00000355233.5_Missense_Mutation_p.R561Q|PTPRD_ENST00000537002.1_Missense_Mutation_p.R558Q|PTPRD_ENST00000397617.3_Missense_Mutation_p.R551Q|PTPRD_ENST00000360074.4_Missense_Mutation_p.R548Q|PTPRD_ENST00000486161.1_Missense_Mutation_p.R561Q|PTPRD_ENST00000356435.5_Missense_Mutation_p.R561Q|PTPRD_ENST00000397606.3_Missense_Mutation_p.R551Q|PTPRD_ENST00000397611.3_Missense_Mutation_p.R558Q|PTPRD_ENST00000540109.1_Missense_Mutation_p.R561Q|PTPRD_ENST00000358503.5_Missense_Mutation_p.R548Q	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	561	Fibronectin type-III 3.				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)		AATGGTAATTCGTTGCTGGAA	0.433000										TSP Lung(15;0.13)			21	43					0	0	0.00395357	0	0
ALDH5A1	7915	broad.mit.edu	37	6	24503518	24503518	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:24503518G>A	ENST00000357578.3	+	3	611	c.466G>A	c.(466-468)Gaa>Aaa	p.E156K	ALDH5A1_ENST00000348925.2_Missense_Mutation_p.E156K|ALDH5A1_ENST00000546278.1_Missense_Mutation_p.E68K|ALDH5A1_ENST00000491546.1_Missense_Mutation_p.E128K	NM_001080.3	NP_001071.1	P51649	SSDH_HUMAN	aldehyde dehydrogenase 5 family, member A1	156					acetate metabolic process|central nervous system development|galactosylceramide metabolic process|gamma-aminobutyric acid catabolic process|glucose metabolic process|glutamate metabolic process|glutamine metabolic process|glutathione metabolic process|glycerophospholipid metabolic process|neurotransmitter catabolic process|neurotransmitter secretion|protein homotetramerization|respiratory electron transport chain|short-chain fatty acid metabolic process|succinate metabolic process	mitochondrial matrix|soluble fraction	succinate-semialdehyde dehydrogenase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|skin(2)|urinary_tract(1)	20					Chlormerodrin(DB00534)|NADH(DB00157)|Succinic acid(DB00139)	GGCACATGGAGAAATTCTCTA	0.463000													8	41					0	0	0.000442599	0	0
TTN	7273	broad.mit.edu	37	2	179585326	179585326	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:179585326G>A	ENST00000589042.1	-	80	23387	c.23163C>T	c.(23161-23163)ctC>ctT	p.L7721L	TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Silent_p.L6477L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Silent_p.L7404L|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7404	Ig-like 59.						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)			TTTCACATTGGAGAATCACAT	0.388000													6	12					0	0	0.00307968	0	0
LAMA3	3909	broad.mit.edu	37	18	21526172	21526172	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:21526172G>A	ENST00000313654.9	+	70	9516	c.9275G>A	c.(9274-9276)gGa>gAa	p.G3092E	LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000269217.6_Missense_Mutation_p.G1483E|LAMA3_ENST00000399516.3_Missense_Mutation_p.G3036E|LAMA3_ENST00000587184.1_Missense_Mutation_p.G1427E	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	3092	Laminin G-like 4.				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)	GCCCGGGAGGGAAGTTTGCCT	0.493000													9	77					0	0	0.000673444	0	0
DUSP22	56940	broad.mit.edu	37	6	304638	304638	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:304638G>A	ENST00000419235.2	+	2	110	c.32G>A	c.(31-33)gGc>gAc	p.G11D	DUSP22_ENST00000605863.1_Intron|DUSP22_ENST00000605035.1_5'UTR|DUSP22_ENST00000603453.1_5'UTR|DUSP22_ENST00000605315.1_Intron|DUSP22_ENST00000344450.5_Missense_Mutation_p.G11D			Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	11					apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		ATCCTGCCCGGCCTGTACATC	0.443000													21	207					0	0	0.00395357	0	0
ANKRD2	26287	broad.mit.edu	37	10	99338082	99338082	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:99338082G>A	ENST00000307518.5	+	3	623	c.356G>A	c.(355-357)cGg>cAg	p.R119Q	ANKRD2_ENST00000370655.1_Missense_Mutation_p.R92Q|ANKRD2_ENST00000298808.5_Missense_Mutation_p.R119Q|ANKRD2_ENST00000455090.1_Missense_Mutation_p.R92Q			Q9GZV1	ANKR2_HUMAN	ankyrin repeat domain 2 (stretch responsive muscle)	119					muscle contraction|muscle organ development		structural constituent of muscle			breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7		all_hematologic(284;1.95e-06)|Colorectal(252;0.0163)		Epithelial(162;1.18e-94)|all cancers(201;9.31e-86)|BRCA - Breast invasive adenocarcinoma(275;0.0233)|STAD - Stomach adenocarcinoma(243;0.181)|KIRC - Kidney renal clear cell carcinoma(50;0.206)|Kidney(138;0.241)		ATCGAGCTGCGGAAGAAACGC	0.672000													4	11					0	0	0.00024832	0	0
KIAA0408	9729	broad.mit.edu	37	6	127770989	127770989	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:127770989G>A	ENST00000483725.3	-	4	892	c.556C>T	c.(556-558)Cga>Tga	p.R186*	SOGA3_ENST00000556132.1_3'UTR|SOGA3_ENST00000481848.2_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	186							protein binding	p.R186*(1)		endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		GACCGCTTTCGAATTTCCTCT	0.363000													10	39					0	0	0.000673444	0	0
CHD1L	9557	broad.mit.edu	37	1	146727493	146727493	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:146727493A>G	ENST00000369258.4	+	4	393	c.373A>G	c.(373-375)Aca>Gca	p.T125A	CHD1L_ENST00000361293.5_Intron|CHD1L_ENST00000467213.1_3'UTR|CHD1L_ENST00000431239.1_Missense_Mutation_p.T125A|CHD1L_ENST00000369259.3_Intron	NM_001256336.1|NM_004284.4|NM_024568.2	NP_001243265.1|NP_004275.4|NP_078844.2	Q86WJ1	CHD1L_HUMAN	chromodomain helicase DNA binding protein 1-like	125	Helicase ATP-binding.				chromatin remodeling|DNA repair	cytoplasm|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(923;0.0487)					TTCCTGTGTAACATATGCAGG	0.418000													10	26					0	0	0.00244969	0	0
RP1	6101	broad.mit.edu	37	8	55539817	55539817	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:55539817C>T	ENST00000220676.1	+	4	3523	c.3375C>T	c.(3373-3375)tcC>tcT	p.S1125S		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1125					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)			GTAATTCATCCACTAATCTCC	0.418000													7	60					0	0	0.00198382	0	0
OR4M2	390538	broad.mit.edu	37	15	22369419	22369419	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:22369419C>T	ENST00000332663.2	+	1	942	c.844C>T	c.(844-846)Cct>Tct	p.P282S	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	282					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TTTAATATTCCCTTTACGTAA	0.378000													7	33					0	0	0.00198382	0	0
CEP112	201134	broad.mit.edu	37	17	63822405	63822405	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:63822405G>A	ENST00000317442.8	-	1	256	c.13C>T	c.(13-15)Ctg>Ttg	p.L5L	CEP112_ENST00000580482.1_Intron|CEP112_ENST00000537949.1_Intron|CEP112_ENST00000541355.1_Intron|CEP112_ENST00000535342.2_Intron|CEP112_ENST00000392769.2_Intron	NM_001037325.2	NP_001032402.1	Q8N8E3	CE112_HUMAN	centrosomal protein 112kDa	0						centrosome				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						TCTAAACTCAGAGAAGCCCAC	0.502000													23	88					0	0	0.00106085	0	0
TTN	7273	broad.mit.edu	37	2	179413427	179413427	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:179413427C>T	ENST00000589042.1	-	339	93150	c.92926G>A	c.(92926-92928)Gat>Aat	p.D30976N	TTN_ENST00000342175.6_Missense_Mutation_p.D22103N|TTN_ENST00000460472.2_Missense_Mutation_p.D21911N|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D28408N|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D29335N|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D22036N|TTN-AS1_ENST00000592750.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	29335	Fibronectin type-III 126.						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)			CTGAAGGAATCTGTTGTATGG	0.448000													12	53					0	0	0.00136819	0	0
BDP1	55814	broad.mit.edu	37	5	70811919	70811919	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:70811919A>T	ENST00000358731.4	+	21	4944	c.4681A>T	c.(4681-4683)Atg>Ttg	p.M1561L	BDP1_ENST00000380675.2_De_novo_Start_InFrame	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	1561					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		CCAGCAAGAAATGAAGGAAAG	0.413000													6	7					0	0	0.00116845	0	0
IGHV3-43	28426	broad.mit.edu	37	14	106926339	106926339	+	RNA	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:106926339G>A	ENST00000434710.1	-	0	282																											ACTAATAAGAGAGACCCACTC	0.517000													10	35					0	0	0.00136819	0	0
SSH3	54961	broad.mit.edu	37	11	67075683	67075683	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:67075683C>T	ENST00000308127.4	+	9	1102	c.924C>T	c.(922-924)ctC>ctT	p.L308L	SSH3_ENST00000308298.7_Intron|SSH3_ENST00000376757.5_Silent_p.L308L|SSH3_ENST00000532181.1_3'UTR	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	slingshot protein phosphatase 3	308					regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton|nucleus	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			GGCTCCCCCTCCAGCAGTACC	0.652000													11	33					0	0	0.00136819	0	0
ZNF568	374900	broad.mit.edu	37	19	37441016	37441016	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:37441016C>G	ENST00000415168.1	+	5	1145	c.769C>G	c.(769-771)Ctc>Gtc	p.L257V	ZNF568_ENST00000333987.7_Missense_Mutation_p.L321V|ZNF568_ENST00000455427.2_Intron|ZNF568_ENST00000427117.1_Intron	NM_001204837.1	NP_001191766.1	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	321					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)			GAAATCAAATCTCATTGAACA	0.398000													10	18					0	0	0.000442599	0	0
RBFOX1	54715	broad.mit.edu	37	16	7568348	7568348	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:7568348G>A	ENST00000340209.4	+	2	539	c.242G>A	c.(241-243)aGc>aAc	p.S81N	RBFOX1_ENST00000547372.1_Missense_Mutation_p.S119N|RBFOX1_ENST00000547338.1_Missense_Mutation_p.S76N|RBFOX1_ENST00000535565.2_Missense_Mutation_p.S112N|RBFOX1_ENST00000436368.2_Missense_Mutation_p.S96N|RBFOX1_ENST00000422070.4_Missense_Mutation_p.S119N|RBFOX1_ENST00000552089.1_Missense_Mutation_p.S112N|RBFOX1_ENST00000355637.4_Missense_Mutation_p.S96N|RBFOX1_ENST00000311745.5_Missense_Mutation_p.S96N|RBFOX1_ENST00000550418.1_Missense_Mutation_p.S76N|RBFOX1_ENST00000553186.1_Missense_Mutation_p.S76N			Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	76					mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						TCCGAGCAGAGCCCGGCGGAC	0.667000													8	62					0	0	0.000274275	0	0
OR5H15	403274	broad.mit.edu	37	3	97888248	97888248	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:97888248G>A	ENST00000356526.2	+	1	705	c.705G>A	c.(703-705)agG>agA	p.R235R		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						AGGGTGTAAGGAAAGCCTTTT	0.423000													16	19					0	0	0.00400662	0	0
NOSIP	51070	broad.mit.edu	37	19	50060140	50060140	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:50060140C>T	ENST00000391853.3	-	7	680	c.529G>A	c.(529-531)Gag>Aag	p.E177K	NOSIP_ENST00000339093.3_Missense_Mutation_p.E180K|NOSIP_ENST00000596358.1_Missense_Mutation_p.E177K	NM_015953.3	NP_057037.1	Q9Y314	NOSIP_HUMAN	nitric oxide synthase interacting protein	177					negative regulation of nitric-oxide synthase activity|nitric oxide metabolic process	cytosol|nucleus	protein binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|skin(2)|urinary_tract(1)	11		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00321)|GBM - Glioblastoma multiforme(134;0.0133)		ACCGGCTTCTCCAGCTTGGTG	0.682000													6	17					0	0	0.00307968	0	0
DPP8	54878	broad.mit.edu	37	15	65773865	65773865	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:65773865G>T	ENST00000341861.5	-	9	2734	c.1154C>A	c.(1153-1155)cCt>cAt	p.P385H	DPP8_ENST00000300141.6_Missense_Mutation_p.P369H|DPP8_ENST00000559233.1_Missense_Mutation_p.P385H|DPP8_ENST00000358939.4_Missense_Mutation_p.P369H|DPP8_ENST00000321118.7_Missense_Mutation_p.P385H|DPP8_ENST00000321147.6_Missense_Mutation_p.P385H|DPP8_ENST00000339244.5_Intron	NM_197960.2	NP_932064.1	Q6V1X1	DPP8_HUMAN	dipeptidyl-peptidase 8	385					immune response|proteolysis	cytoplasm|membrane|nucleus	aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity			NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TTTTCCCTCAGGAGTCCATCC	0.333000													9	196					0.00185496	0.00535648	0.00185496	1	0
FH	2271	broad.mit.edu	37	1	241669301	241669301	+	Splice_Site	SNP	A	A	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:241669301A>C	ENST00000366560.3	-	6	943		c.e6+1			NM_000143.3	NP_000134.2	P07954	FUMH_HUMAN	fumarate hydratase						fumarate metabolic process|tricarboxylic acid cycle	cell junction|mitochondrial matrix|tricarboxylic acid cycle enzyme complex	fumarate hydratase activity			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(2)	26	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)		GTGATCACTAACCTGTAAGTG	0.388000			"""Mis, N, F"""			"""lieomyomatosis, renal"""			Hereditary Leiomyomatosis and Renal Cell Cancer				7	63					0	0	0.000673444	0	0
CLCN4	1183	broad.mit.edu	37	X	10176551	10176551	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:10176551G>A	ENST00000380833.4	+	9	1701	c.1310G>A	c.(1309-1311)gGt>gAt	p.G437D	CLCN4_ENST00000421085.2_Missense_Mutation_p.G343D|CLCN4_ENST00000380829.1_Missense_Mutation_p.G406D	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4	437						early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GCTGGTGTCGGTGTTTACACG	0.527000													33	59					0	0	0.00327116	0	0
ALMS1	7840	broad.mit.edu	37	2	73651805	73651805	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:73651805C>T	ENST00000264448.6	+	5	1123	c.1012C>T	c.(1012-1014)Cgt>Tgt	p.R338C	ALMS1_ENST00000409009.1_Missense_Mutation_p.R296C|ALMS1_ENST00000377715.1_Missense_Mutation_p.R338C	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	338					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						AGACTGTGATCGTTATGATGA	0.378000													6	28					0	0	0.000274275	0	0
UCMA	221044	broad.mit.edu	37	10	13264196	13264196	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:13264196C>T	ENST00000378681.3	-	5	396	c.324G>A	c.(322-324)caG>caA	p.Q108Q	UCMA_ENST00000463405.2_Silent_p.Q86Q	NM_145314.1	NP_660357.2	Q8WVF2	UCMA_HUMAN	upper zone of growth plate and cartilage matrix associated	108						proteinaceous extracellular matrix				breast(2)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9						TCCTCTCTTCCTGCTCTGGGG	0.622000													8	18					0	0	0.00307968	0	0
PARP12	64761	broad.mit.edu	37	7	139727207	139727207	+	Splice_Site	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:139727207C>T	ENST00000263549.3	-	10	2371		c.e10-1			NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN	poly (ADP-ribose) polymerase family, member 12							nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					GGGTGATCTTCTGCAAGGGGC	0.438000													15	86					0	0	0.00121646	0	0
ANKRD20A8P	729171	broad.mit.edu	37	2	95515041	95515041	+	RNA	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:95515041G>A	ENST00000432432.2	-	0	616					NR_040113.1																						ATAAAAGTGGGGTATTACTGT	0.333000													27	106					0	0	0.001512	0	0
ZNF778	197320	broad.mit.edu	37	16	89293787	89293787	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:89293787C>T	ENST00000433976.2	+	6	1339	c.1007C>T	c.(1006-1008)cCc>cTc	p.P336L	RP11-46C24.6_ENST00000563182.1_RNA|ZNF778_ENST00000306502.6_Missense_Mutation_p.P294L	NM_001201407.1|NM_182531.3	NP_001188336.1|NP_872337.2	Q96MU6	ZN778_HUMAN	zinc finger protein 778	336					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2)	24				BRCA - Breast invasive adenocarcinoma(80;0.0269)		GGACAGAAGCCCTATGAATGT	0.478000													13	53					0	0	0.00400662	0	0
HTR7	3363	broad.mit.edu	37	10	92509303	92509303	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:92509303C>T	ENST00000371721.3	-	2	830	c.588G>A	c.(586-588)ggG>ggA	p.G196G	HTR7_ENST00000371719.2_Silent_p.G196G|HTR7_ENST00000277874.6_Silent_p.G196G|HTR7_ENST00000336152.3_Silent_p.G196G			P34969	5HT7R_HUMAN	5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	196					blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)	CCATGCATTTCCCATTCTGCC	0.488000													11	24					0	0	0.00136819	0	0
TCL6	27004	broad.mit.edu	37	14	96136833	96136833	+	RNA	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:96136833C>T	ENST00000467865.1	+	0	1943				RP11-1070N10.6_ENST00000461160.1_RNA																large_intestine(1)|lung(7)	8		all_cancers(154;0.103)		Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207)		GAGCAGCTGCCATTGCAGATT	0.468000			T	TRA@	T-ALL								6	15					0	0	0.00307968	0	0
SIGLEC12	89858	broad.mit.edu	37	19	52002912	52002912	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:52002912C>T	ENST00000291707.3	-	3	922	c.867G>A	c.(865-867)agG>agA	p.R289R	SIGLEC12_ENST00000598614.1_Silent_p.R171R	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	289	Ig-like C2-type 1.				cell adhesion	integral to membrane	sugar binding			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		AGGTCAGGTTCCTGGGGTGGC	0.637000													8	17					0	0	0.000442599	0	0
MYO15A	51168	broad.mit.edu	37	17	18024939	18024939	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:18024939C>T	ENST00000205890.5	+	2	3163	c.2825C>T	c.(2824-2826)cCc>cTc	p.P942L		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	942	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)					CCACCCTCCCCCTGGCCAGGA	0.701000													3	2					0	0	0.00024832	0	0
OR1N2	138882	broad.mit.edu	37	9	125316141	125316141	+	Silent	SNP	C	C	T	rs148945100		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:125316141C>T	ENST00000373688.2	+	1	751	c.693C>T	c.(691-693)atC>atT	p.I231I		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	231					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						TCCTGCTGATCGTCTTCTCCT	0.522000													16	26					0	0	0.00074312	0	0
DNAH11	8701	broad.mit.edu	37	7	21892114	21892114	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:21892114T>G	ENST00000328843.6	+	68	10978	c.10947T>G	c.(10945-10947)ttT>ttG	p.F3649L	DNAH11_ENST00000409508.3_Missense_Mutation_p.F3642L			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3649	AAA 5 (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						AAAATGATTTTAAAATTGAGC	0.383000									Kartagener syndrome				9	75					0	0	0.000978159	0	0
SNTG1	54212	broad.mit.edu	37	8	51449329	51449329	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:51449329C>T	ENST00000522124.1	+	11	1302	c.641C>T	c.(640-642)tCg>tTg	p.S214L	SNTG1_ENST00000518864.1_Missense_Mutation_p.S214L|SNTG1_ENST00000276467.5_Missense_Mutation_p.S214L|SNTG1_ENST00000517473.1_Missense_Mutation_p.S214L	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	214					cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				CTACTTCATTCGCGCTTCTCT	0.483000													12	78					0	0	0.00244969	0	0
CNGB3	54714	broad.mit.edu	37	8	87590964	87590964	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:87590964C>T	ENST00000320005.5	-	17	2103	c.2056G>A	c.(2056-2058)Gca>Aca	p.A686T		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	686					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						GCAAGACTTGCTTTTCCTGTG	0.493000													14	120					0	0	0.000566183	0	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48896967	48896967	+	Missense_Mutation	SNP	G	G	A	rs148943401	byFrequency	TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:48896967G>A	ENST00000394754.1	+	9	3311	c.3197G>A	c.(3196-3198)gGa>gAa	p.G1066E	GTF2A1L_ENST00000430487.2_Missense_Mutation_p.G328E|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.G1066E|GTF2A1L_ENST00000403751.3_Missense_Mutation_p.G362E|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.G1066E|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.G1019E|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.G1066E	NM_172311.2	NP_758515.1	B7ZL16	B7ZL16_HUMAN		1019					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GAAGAAATAGGAAGTACAAGA	0.383000													38	61					0	0	0.00375469	0	0
EPPK1	83481	broad.mit.edu	37	8	144946006	144946006	+	Silent	SNP	G	G	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:144946006G>T	ENST00000525985.1	-	2	1487	c.1416C>A	c.(1414-1416)ccC>ccA	p.P472P				P58107	EPIPL_HUMAN	epiplakin 1	472						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCCCTCCCCGGGGTCCCCCTG	0.687000													8	36					1.33987e-11	3.91062e-11	0.000673444	1	0
TNC	3371	broad.mit.edu	37	9	117819641	117819641	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:117819641G>A	ENST00000350763.4	-	15	4781	c.4370C>T	c.(4369-4371)tCc>tTc	p.S1457F	TNC_ENST00000341037.4_Missense_Mutation_p.S1366F|TNC_ENST00000542877.1_Missense_Mutation_p.S1093F|TNC_ENST00000423613.2_Intron|TNC_ENST00000537320.1_Intron|TNC_ENST00000535648.1_Missense_Mutation_p.S1093F|TNC_ENST00000345230.3_Intron|TNC_ENST00000346706.3_Intron|TNC_ENST00000340094.3_Missense_Mutation_p.S1093F	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1457	Fibronectin type-III 10.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						AGCCATCCAGGAGAGATTGAA	0.403000													28	99					0	0	0.00283554	0	0
OPN5	221391	broad.mit.edu	37	6	47749898	47749898	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:47749898G>A	ENST00000489301.2	+	1	181	c.96G>A	c.(94-96)gcG>gcA	p.A32A	OPN5_ENST00000371211.2_Silent_p.A32A|OPN5_ENST00000393699.2_Silent_p.A32A			Q6U736	OPN5_HUMAN	opsin 5	32					phototransduction|protein-chromophore linkage|visual perception	integral to membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						CTTGGGAAGCGGATTTAGTGG	0.443000													10	65					0	0	0.000673444	0	0
GRM5	2915	broad.mit.edu	37	11	88780834	88780834	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:88780834C>T	ENST00000418177.2	-	2	574	c.207G>A	c.(205-207)gtG>gtA	p.V69V	GRM5_ENST00000393297.1_Silent_p.V69V|GRM5_ENST00000455756.2_Silent_p.V69V|GRM5_ENST00000393294.3_Silent_p.V69V|GRM5_ENST00000305432.5_Silent_p.V69V|GRM5_ENST00000305447.4_Silent_p.V69V			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	69					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	GCATGGCCTCCACTCTCTGAA	0.517000													6	12					0	0	0.00116845	0	0
UCP1	7350	broad.mit.edu	37	4	141483493	141483493	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:141483493G>A	ENST00000262999.3	-	5	738	c.663C>T	c.(661-663)atC>atT	p.I221I		NM_021833.4	NP_068605.1	P25874	UCP1_HUMAN	uncoupling protein 1 (mitochondrial, proton carrier)	221					brown fat cell differentiation|cellular lipid metabolic process|respiratory electron transport chain	integral to membrane|mitochondrial inner membrane	binding			NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|stomach(1)	16	all_hematologic(180;0.162)					AAAATCCAGCGATAAGAGCCG	0.458000													7	15					0	0	0.00198382	0	0
DNAH7	56171	broad.mit.edu	37	2	196759856	196759856	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:196759856C>T	ENST00000312428.6	-	30	4840	c.4740G>A	c.(4738-4740)atG>atA	p.M1580I		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1580	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTTGCAAATTCATGGAGGCAC	0.373000													9	67					0	0	0.000673444	0	0
SPTBN2	6712	broad.mit.edu	37	11	66456164	66456164	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:66456164G>A	ENST00000533211.1	-	31	6522	c.6191C>T	c.(6190-6192)gCc>gTc	p.A2064V	SPTBN2_ENST00000529997.1_Missense_Mutation_p.A2064V|SPTBN2_ENST00000309996.2_Missense_Mutation_p.A2064V			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	2064					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CTCCTCCCAGGCCACTGCTGA	0.632000													5	15					0	0	0.000602214	0	0
VCAM1	7412	broad.mit.edu	37	1	101194687	101194687	+	Missense_Mutation	SNP	C	C	T	rs3783611	byFrequency	TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:101194687C>T	ENST00000294728.2	+	5	1054	c.953C>T	c.(952-954)tCc>tTc	p.S318F	VCAM1_ENST00000347652.2_Intron|VCAM1_ENST00000370119.4_Missense_Mutation_p.S256F|VCAM1_ENST00000370115.1_Intron	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	318	Ig-like C2-type 4.		S -> F (in dbSNP:rs3783611).		heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	GTTGAGATCTCCCCTGGACCC	0.433000													33	23					0	0	0.00128727	0	0
ZNF585B	92285	broad.mit.edu	37	19	37677573	37677573	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:37677573C>T	ENST00000532828.2	-	5	1117	c.866G>A	c.(865-867)cGa>cAa	p.R289Q	CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000312908.5_5'UTR|ZNF585B_ENST00000531805.1_Missense_Mutation_p.R234Q|ZNF585B_ENST00000527838.1_3'UTR	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	289					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)			ATGAATTCTTCGGTGTGCAAT	0.408000													28	108					0	0	0.00106085	0	0
VARS	7407	broad.mit.edu	37	6	31747781	31747781	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:31747781G>A	ENST00000375663.3	-	26	3515	c.3075C>T	c.(3073-3075)gtC>gtT	p.V1025V		NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	1025					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	TCACCAAGTAGACATCACAGA	0.602000													38	225					0	0	0.00195071	0	0
SLC22A12	116085	broad.mit.edu	37	11	64368231	64368231	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:64368231G>A	ENST00000377574.1	+	9	2166	c.1419G>A	c.(1417-1419)caG>caA	p.Q473Q	SLC22A12_ENST00000473690.1_Silent_p.Q252Q|SLC22A12_ENST00000336464.7_Silent_p.Q439Q|SLC22A12_ENST00000377572.1_Silent_p.Q365Q|SLC22A12_ENST00000377567.2_Silent_p.Q365Q	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	473					cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						GCTTGGGCCAGATGGCAGCCC	0.672000													11	23					0	0	0.000978159	0	0
OR2A12	346525	broad.mit.edu	37	7	143793046	143793046	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:143793046G>A	ENST00000408949.2	+	1	906	c.846G>A	c.(844-846)ccG>ccA	p.P282P		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	282					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					TTTTCAACCCGATCCTGAACC	0.468000													21	204					0	0	0.00395357	0	0
NDUFS7	374291	broad.mit.edu	37	19	1390905	1390905	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:1390905C>G	ENST00000313408.7	+	5	287	c.264C>G	c.(262-264)tgC>tgG	p.C88W	NDUFS7_ENST00000414651.2_Missense_Mutation_p.C118W|NDUFS7_ENST00000540530.1_3'UTR|NDUFS7_ENST00000539480.1_Missense_Mutation_p.C88W|NDUFS7_ENST00000233627.9_Missense_Mutation_p.C88W|NDUFS7_ENST00000546283.1_Missense_Mutation_p.C88W			O75251	NDUS7_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)	88					mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding|quinone binding			ovary(1)	1		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)|Breast(49;0.00186)|Lung NSC(49;0.00292)|all_lung(49;0.00419)		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)	NADH(DB00157)	GCCTGGCCTGCTGCGCCGTGG	0.697000													3	19					0	0	0.00024832	0	0
MUC13	56667	broad.mit.edu	37	3	124635246	124635246	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:124635246G>A	ENST00000311075.3	-	6	917	c.879C>T	c.(877-879)acC>acT	p.T293T		NM_033049.3	NP_149038.3	Q9H3R2	MUC13_HUMAN	mucin 13, cell surface associated	293	SEA.					extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						TGTCACTTGTGGTTTCTGCCA	0.323000													20	44					0	0	0.00152264	0	0
USP54	159195	broad.mit.edu	37	10	75258467	75258467	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:75258467C>T	ENST00000339859.4	-	23	5075	c.4975G>A	c.(4975-4977)Gag>Aag	p.E1659K	RP11-137L10.6_ENST00000597958.1_RNA|RP11-137L10.6_ENST00000600206.1_RNA|USP54_ENST00000408019.1_Missense_Mutation_p.E1659K|RP11-137L10.6_ENST00000593790.1_RNA|USP54_ENST00000422491.2_Missense_Mutation_p.E794K|RP11-137L10.6_ENST00000595069.1_RNA|RP11-137L10.6_ENST00000600607.1_RNA|RP11-137L10.6_ENST00000595935.1_RNA|USP54_ENST00000394811.2_Missense_Mutation_p.E700K|RP11-137L10.6_ENST00000442133.3_RNA|USP54_ENST00000497106.1_5'UTR|RP11-137L10.6_ENST00000600887.1_RNA|USP54_ENST00000428547.1_Missense_Mutation_p.E1509K|RP11-137L10.6_ENST00000596320.1_RNA			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	1659					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					AGAAACCCCTCTCCCACTGTT	0.517000													11	28					0	0	0.000978159	0	0
DNAH11	8701	broad.mit.edu	37	7	21857904	21857904	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:21857904G>A	ENST00000328843.6	+	66	10690	c.10659G>A	c.(10657-10659)acG>acA	p.T3553T	DNAH11_ENST00000409508.3_Silent_p.T3546T			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3553	AAA 5 (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						TCGAGGAAACGATAGATCCAG	0.323000									Kartagener syndrome				10	71					0	0	0.00136819	0	0
SLFN13	146857	broad.mit.edu	37	17	33769167	33769167	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:33769167G>A	ENST00000285013.6	-	5	1612	c.1337C>T	c.(1336-1338)gCt>gTt	p.A446V	SLFN13_ENST00000360502.2_Missense_Mutation_p.A128V|SLFN13_ENST00000542635.1_Missense_Mutation_p.A446V|SLFN13_ENST00000526861.1_Missense_Mutation_p.A446V|SLFN13_ENST00000534689.1_Missense_Mutation_p.A128V|SLFN13_ENST00000533791.1_Missense_Mutation_p.A446V	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	446						intracellular	ATP binding			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		CAGGTCCACAGCCCAGCTTCT	0.498000													15	28					0	0	0.00316338	0	0
WDR33	55339	broad.mit.edu	37	2	128466428	128466428	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:128466428C>T	ENST00000322313.4	-	21	3762	c.3604G>A	c.(3604-3606)Gat>Aat	p.D1202N		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	1202					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		GGGGGATGATCAGGGCGGGGA	0.542000													5	31					0	0	0.000602214	0	0
SPAM1	6677	broad.mit.edu	37	7	123593922	123593922	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:123593922C>T	ENST00000340011.5	+	3	655	c.298C>T	c.(298-300)Cct>Tct	p.P100S	SPAM1_ENST00000439500.1_Missense_Mutation_p.P100S|SPAM1_ENST00000460182.1_Missense_Mutation_p.P100S|SPAM1_ENST00000223028.7_Missense_Mutation_p.P100S|SPAM1_ENST00000402183.2_Missense_Mutation_p.P100S	NM_003117.4	NP_003108.2	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	100					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	TGGCTACTATCCTTACATAGA	0.418000													6	15					0	0	0.00116845	0	0
TSC1	7248	broad.mit.edu	37	9	135796754	135796754	+	Nonsense_Mutation	SNP	G	G	A	rs118203434		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:135796754G>A	ENST00000298552.3	-	8	954	c.733C>T	c.(733-735)Cga>Tga	p.R245*	TSC1_ENST00000545250.1_Nonsense_Mutation_p.R194*|TSC1_ENST00000440111.2_Nonsense_Mutation_p.R245*|TSC1_ENST00000403810.1_Nonsense_Mutation_p.R245*	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	245					activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	p.R245R(1)|p.R245*(1)|p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		CTATACCTTCGAGGGTCCAGT	0.393000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				14	17					0	0	0.00074312	0	0
MGAM	8972	broad.mit.edu	37	7	141752690	141752690	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:141752690A>T	ENST00000475668.2	+	26	3119	c.3065A>T	c.(3064-3066)aAg>aTg	p.K1022M	MGAM_ENST00000549489.2_Missense_Mutation_p.K1022M			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1022					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)	ATCTCCTTAAAGTCTTCCGTT	0.458000													13	78					0	0	0.00185496	0	0
IGHV3-33	28434	broad.mit.edu	37	14	106815853	106815853	+	RNA	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:106815853C>T	ENST00000390615.2	-	0	299																											TTATTACTTCCATCATACCAT	0.517000													10	54					0	0	0.00136819	0	0
GLT6D1	360203	broad.mit.edu	37	9	138516028	138516028	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:138516028C>T	ENST00000371763.1	-	5	999	c.746G>A	c.(745-747)gGa>gAa	p.G249E		NM_182974.2	NP_892019.2	Q7Z4J2	GL6D1_HUMAN	glycosyltransferase 6 domain containing 1	249					carbohydrate metabolic process	integral to membrane	transferase activity, transferring hexosyl groups			endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)		ATGAATAACTCCGTTCAGATA	0.383000													21	67					0	0	0.00278032	0	0
CCNDBP1	23582	broad.mit.edu	37	15	43483740	43483740	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:43483740C>T	ENST00000300213.4	+	8	969	c.727C>T	c.(727-729)Cca>Tca	p.P243S	EPB42_ENST00000563128.1_Intron|CCNDBP1_ENST00000356633.5_Missense_Mutation_p.P82S	NM_012142.4	NP_036274.3	O95273	CCDB1_HUMAN	cyclin D-type binding-protein 1	243	Interaction with RPLP0.|Interaction with TCF3.				cell cycle	cytoplasm|nucleus	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)	13		all_cancers(109;3.31e-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;8.42e-07)		GCTCATAATCCCATGCCTTGC	0.493000													19	19					0	0	0.00152264	0	0
DIS3L2	129563	broad.mit.edu	37	2	233198570	233198570	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:233198570G>A	ENST00000325385.7	+	17	2307	c.2031G>A	c.(2029-2031)tcG>tcA	p.S677S	DIS3L2_ENST00000409307.1_Silent_p.S677S|DIS3L2_ENST00000273009.6_Intron	NM_152383.4	NP_689596.4	Q8IYB7	DI3L2_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)-like 2	677							exonuclease activity|ribonuclease activity|RNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		ACTTCTGCTCGGGGCTGCTGC	0.657000											OREG0015283	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	31					0	0	0.000720815	0	0
OR9A4	130075	broad.mit.edu	37	7	141619132	141619132	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:141619132T>C	ENST00000548136.1	+	1	516	c.457T>C	c.(457-459)Ttt>Ctt	p.F153L	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					GGTGTTTGGGTTTCTTTTTCA	0.423000													12	144					0	0	0.00136819	0	0
CD22	933	broad.mit.edu	37	19	35832701	35832701	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:35832701C>G	ENST00000085219.5	+	9	1934	c.1868C>G	c.(1867-1869)cCc>cGc	p.P623R	CD22_ENST00000419549.2_Missense_Mutation_p.P451R|CD22_ENST00000341773.6_Missense_Mutation_p.P446R|CD22_ENST00000270311.6_Missense_Mutation_p.P503R|CD22_ENST00000594250.1_Missense_Mutation_p.P446R|CD22_ENST00000544992.2_Missense_Mutation_p.P623R|CD22_ENST00000536635.2_Missense_Mutation_p.P535R	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	623	Ig-like C2-type 6.				cell adhesion		protein binding|sugar binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	GCCAACCCTCCCGTCTCCCAC	0.612000													5	12					0	0	0.00116845	0	0
MMP16	4325	broad.mit.edu	37	8	89054002	89054002	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:89054002C>G	ENST00000286614.6	-	10	1792	c.1511G>C	c.(1510-1512)gGa>gCa	p.G504A		NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	504	Hemopexin-like 4.				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						ATACTCCTTTCCTTTGTAGAA	0.393000													9	16					0	0	0.000673444	0	0
SLC36A3	285641	broad.mit.edu	37	5	150666980	150666980	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:150666980C>T	ENST00000335230.3	-	6	946	c.535G>A	c.(535-537)Gag>Aag	p.E179K	SLC36A3_ENST00000377713.3_Missense_Mutation_p.E220K	NM_181774.3	NP_861439.3	Q495N2	S36A3_HUMAN	solute carrier family 36, member 3	179						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	21		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTCAGAATCTCCCTGGGCTGG	0.507000													9	47					0	0	0.000442599	0	0
DENND1A	57706	broad.mit.edu	37	9	126144643	126144643	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:126144643G>A	ENST00000373624.2	-	22	2299	c.2098C>T	c.(2098-2100)Ccc>Tcc	p.P700S	DENND1A_ENST00000394219.3_Missense_Mutation_p.P711S|DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000542603.1_Missense_Mutation_p.P485S	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	700	Pro-rich.					cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						TGGGGCCGGGGGATGGTGATG	0.692000													4	14					0	0	0.00116845	0	0
ZNF407	55628	broad.mit.edu	37	18	72632573	72632573	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:72632573C>T	ENST00000299687.5	+	7	5353	c.5353C>T	c.(5353-5355)Ccg>Tcg	p.P1785S	ZNF407_ENST00000577538.1_Missense_Mutation_p.P1785S	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1785					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		GACCAACGTCCCGGTGGAGTT	0.483000													8	15					0	0	0.00307968	0	0
TPD52	7163	broad.mit.edu	37	8	80965594	80965594	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:80965594C>T	ENST00000379096.5	-	3	321	c.207G>A	c.(205-207)cgG>cgA	p.R69R	TPD52_ENST00000537855.1_Silent_p.R109R|TPD52_ENST00000448733.2_Silent_p.R109R|TPD52_ENST00000519303.2_5'UTR|TPD52_ENST00000520527.1_Silent_p.R109R|TPD52_ENST00000518937.1_Silent_p.R69R|TPD52_ENST00000517427.1_Silent_p.R109R|TPD52_ENST00000379097.3_Silent_p.R109R	NM_005079.2	NP_005070.1	P55327	TPD52_HUMAN	tumor protein D52	109					anatomical structure morphogenesis|B cell differentiation|secretion	endoplasmic reticulum|perinuclear region of cytoplasm	calcium ion binding|protein heterodimerization activity|protein homodimerization activity			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	8	all_epithelial(4;1.13e-09)|Lung NSC(7;9.71e-07)|all_lung(9;3.75e-06)	Lung NSC(129;3.55e-06)|all_lung(136;1.53e-05)|Acute lymphoblastic leukemia(644;0.158)	BRCA - Breast invasive adenocarcinoma(6;0.00181)|Epithelial(68;0.0149)|all cancers(69;0.0612)			TTCCAAGTTTCCGCTTGATCT	0.428000													12	77					0	0	0.00136819	0	0
KRTAP4-3	85290	broad.mit.edu	37	17	39324205	39324205	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:39324205A>G	ENST00000391356.2	-	1	219	c.220T>C	c.(220-222)Tgc>Cgc	p.C74R		NM_033187.1	NP_149443.1	Q9BYR4	KRA43_HUMAN	keratin associated protein 4-3	74	29 X 5 AA repeats of C-C-[GIKRQVH]-[SPT]- [STA].					keratin filament				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	12		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			gaaatgcagcagctggggcgg	0.627000													3	9					0	0	0.000602214	0	0
SCCPDH	51097	broad.mit.edu	37	1	246907403	246907403	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:246907403C>T	ENST00000366510.3	+	5	916	c.540C>T	c.(538-540)ttC>ttT	p.F180F		NM_016002.2	NP_057086.2	Q8NBX0	SCPDH_HUMAN	saccharopine dehydrogenase (putative)	180						midbody	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|ovary(1)	17	all_cancers(71;6.8e-05)|all_epithelial(71;7.93e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0545)|Lung NSC(105;0.0618)	all_cancers(173;0.0343)	OV - Ovarian serous cystadenocarcinoma(106;0.00323)	GBM - Glioblastoma multiforme(49;0.0896)		TGGAAAGTTTCCTGACTATAC	0.294000													30	180					0	0	0.00327116	0	0
RGPD4	285190	broad.mit.edu	37	2	108487579	108487579	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:108487579C>T	ENST00000408999.3	+	20	3196	c.3119C>T	c.(3118-3120)cCa>cTa	p.P1040L	RGPD4_ENST00000354986.4_Missense_Mutation_p.P1040L	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1040	RanBD1 1.				intracellular transport		binding	p.P1040R(1)		breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						CATTTTGAACCAGTAGTTCAA	0.388000													40	158					0	0	0.00361006	0	0
PKD2L2	27039	broad.mit.edu	37	5	137242080	137242080	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:137242080A>C	ENST00000508638.1	+	6	987	c.932A>C	c.(931-933)tAt>tCt	p.Y311S	PKD2L2_ENST00000502810.1_Missense_Mutation_p.Y311S|PKD2L2_ENST00000350250.4_Missense_Mutation_p.Y277S|PKD2L2_ENST00000508883.1_Missense_Mutation_p.Y311S|PKD2L2_ENST00000290431.5_Missense_Mutation_p.Y311S	NM_001258449.1	NP_001245378.1	Q9NZM6	PK2L2_HUMAN	polycystic kidney disease 2-like 2	311						integral to membrane	calcium ion binding|ion channel activity			breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	28			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			AAGTCTGCCTATTTCAAAAGT	0.323000													16	55					0	0	0.00152264	0	0
AKAP11	11215	broad.mit.edu	37	13	42876501	42876501	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr13:42876501C>T	ENST00000025301.2	+	8	3794	c.3619C>T	c.(3619-3621)Ctt>Ttt	p.L1207F		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	1207					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		TACACACATCCTTTCTCTTGC	0.418000													14	50					0	0	0.00244969	0	0
PRG4	10216	broad.mit.edu	37	1	186266058	186266058	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:186266058C>T	ENST00000445192.2	+	2	96	c.51C>T	c.(49-51)ttC>ttT	p.F17F	PRG4_ENST00000367486.3_Silent_p.F17F|PRG4_ENST00000367483.4_Silent_p.F17F|PRG4_ENST00000367484.3_Silent_p.F17F|PRG4_ENST00000367485.4_Silent_p.F17F	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	17					cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						TGTCTGTTTTCGTGATTCAGC	0.358000													5	36					0	0	0.00198382	0	0
EHD3	30845	broad.mit.edu	37	2	31484508	31484508	+	Missense_Mutation	SNP	G	G	A	rs138474287		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:31484508G>A	ENST00000322054.5	+	5	1294	c.1009G>A	c.(1009-1011)Gag>Aag	p.E337K	EHD3_ENST00000541626.1_Intron	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	337					blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					CAACCTGGCCGAGATCTATGG	0.562000													15	45					0	0	0.000566183	0	0
COL21A1	81578	broad.mit.edu	37	6	55990387	55990387	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:55990387G>A	ENST00000244728.5	-	14	2025	c.1628C>T	c.(1627-1629)tCa>tTa	p.S543L	COL21A1_ENST00000535941.1_Missense_Mutation_p.S543L|COL21A1_ENST00000370819.1_Missense_Mutation_p.S540L	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	543	Collagen-like 2.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			AAATCCAGGTGATCCTTTGTC	0.284000													11	41					0	0	0.00244969	0	0
SEPT7	989	broad.mit.edu	37	7	35923579	35923579	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:35923579C>T	ENST00000494488.2	+	8	760	c.760C>T	c.(760-762)Cct>Tct	p.P254S	SEPT7_ENST00000432293.2_Intron|SEPT7_ENST00000350320.6_Missense_Mutation_p.P267S|SEPT7_ENST00000435235.1_Missense_Mutation_p.P215S|SEPT7_ENST00000399034.2_Missense_Mutation_p.P269S|SEPT7_ENST00000469679.2_Intron|SEPT7_ENST00000399035.3_Missense_Mutation_p.P267S			Q16181	SEPT7_HUMAN	septin 7	268					cilium morphogenesis|cytokinesis|mitosis|protein heterooligomerization|regulation of embryonic cell shape	cilium axoneme|cleavage furrow|condensed chromosome kinetochore|midbody|nucleus|septin complex|spindle|stress fiber	GTP binding|protein binding|structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)	14						AAGGCAGTATCCTTGGGGTGT	0.338000													12	55					0	0	0.00244969	0	0
MUC16	94025	broad.mit.edu	37	19	9059043	9059043	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:9059043G>A	ENST00000397910.4	-	3	28606	c.28403C>T	c.(28402-28404)aCc>aTc	p.T9468I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9470	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						CATGATAGAGGTGAAAAGAGA	0.483000													11	44					0	0	0.00136819	0	0
DFFB	1677	broad.mit.edu	37	1	3786176	3786176	+	Missense_Mutation	SNP	C	C	T	rs140809202		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:3786176C>T	ENST00000378209.3	+	5	841	c.518C>T	c.(517-519)tCc>tTc	p.S173F	DFFB_ENST00000338895.3_Missense_Mutation_p.S173F	NM_004402.2	NP_004393.1	O76075	DFFB_HUMAN	DNA fragmentation factor, 40kDa, beta polypeptide (caspase-activated DNase)	173					apoptotic chromosome condensation|DNA fragmentation involved in apoptotic nuclear change|intracellular signal transduction	cytosol|nucleoplasm	deoxyribonuclease activity|enzyme binding			endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_cancers(23;2.05e-30)|all_epithelial(116;6.22e-21)|all_lung(118;2.65e-08)|Lung NSC(185;6.25e-06)|Breast(487;0.000659)|Renal(390;0.00121)|all_neural(13;0.0019)|Hepatocellular(190;0.00705)|Colorectal(325;0.0113)|all_hematologic(16;0.0194)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0548)|Medulloblastoma(700;0.211)		Epithelial(90;1.18e-39)|OV - Ovarian serous cystadenocarcinoma(86;7.28e-23)|GBM - Glioblastoma multiforme(42;2.95e-17)|Colorectal(212;1.23e-05)|COAD - Colon adenocarcinoma(227;5.94e-05)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00038)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		CAGGTGAGCTCCTACCCCTCC	0.627000													4	11					0	0	0.000602214	0	0
UBE3C	9690	broad.mit.edu	37	7	156963047	156963047	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:156963047C>T	ENST00000348165.5	+	4	605	c.245C>T	c.(244-246)tCc>tTc	p.S82F	UBE3C_ENST00000389103.4_Missense_Mutation_p.S39F	NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	82					protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		TTGTCACAGTCCGGGGGCGCT	0.413000													22	179					0	0	0.00395357	0	0
GPR3	2827	broad.mit.edu	37	1	27720522	27720522	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:27720522C>T	ENST00000374024.3	+	2	319	c.220C>T	c.(220-222)Ccc>Tcc	p.P74S		NM_005281.2	NP_005272.1	P46089	GPR3_HUMAN	G protein-coupled receptor 3	74					activation of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane				endometrium(3)|lung(3)|ovary(1)|skin(1)	8		Breast(348;1.53e-05)|Ovarian(437;0.0606)|all_lung(284;0.157)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;2.81e-26)|Colorectal(126;1.24e-08)|KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;4.45e-06)|Lung(427;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|LUSC - Lung squamous cell carcinoma(448;0.008)|READ - Rectum adenocarcinoma(331;0.0419)		CTTCCGTGCCCCCATGTTCCT	0.642000													11	32					0	0	0.00136819	0	0
WRAP53	55135	broad.mit.edu	37	17	7605007	7605007	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:7605007C>T	ENST00000316024.5	+	6	3203	c.855C>T	c.(853-855)ttC>ttT	p.F285F	WRAP53_ENST00000396463.2_Silent_p.F285F|WRAP53_ENST00000534050.1_Silent_p.F252F|WRAP53_ENST00000431639.2_Silent_p.F285F|WRAP53_ENST00000457584.2_Silent_p.F285F			Q9BUR4	WAP53_HUMAN	WD repeat containing, antisense to TP53	285					positive regulation of telomerase activity|telomere formation via telomerase	Cajal body|cytoplasm|telomerase holoenzyme complex	protein binding|RNA binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2)	18						CGCTCTGCTTCTCCCCGGATG	0.612000													8	30					0	0	0.000274275	0	0
R3HDM2	22864	broad.mit.edu	37	12	57648709	57648709	+	Silent	SNP	G	G	A	rs149678283		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:57648709G>A	ENST00000402412.1	-	24	3210	c.2820C>T	c.(2818-2820)ctC>ctT	p.L940L	R3HDM2_ENST00000358907.2_Silent_p.L926L|R3HDM2_ENST00000413953.2_Intron|R3HDM2_ENST00000393811.2_Silent_p.L653L|R3HDM2_ENST00000441731.2_Silent_p.L621L|R3HDM2_ENST00000347140.3_Silent_p.L926L|R3HDM2_ENST00000403821.2_Silent_p.L960L|RP11-123K3.4_ENST00000548184.1_RNA			Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	926						nucleus	nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						ACAAGGCAGCGAGGTCCGAGT	0.612000													8	27					0	0	0.00307968	0	0
LSM14A	26065	broad.mit.edu	37	19	34712526	34712526	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:34712526C>T	ENST00000544216.3	+	9	1328	c.1251C>T	c.(1249-1251)ttC>ttT	p.F417F	LSM14A_ENST00000540746.2_Silent_p.F376F|LSM14A_ENST00000433627.5_Silent_p.F417F	NM_015578.2	NP_056393.2	Q8ND56	LS14A_HUMAN	LSM14A, SCD6 homolog A (S. cerevisiae)	417					cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation	cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule				breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22	Esophageal squamous(110;0.162)					GTCTTGGTTTCCGTGGTGGCA	0.577000													7	26					0	0	0.00198382	0	0
LINGO2	158038	broad.mit.edu	37	9	27950308	27950308	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:27950308G>A	ENST00000379992.2	-	6	811	c.362C>T	c.(361-363)cCt>cTt	p.P121L	LINGO2_ENST00000308675.3_Missense_Mutation_p.P121L	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	121						integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		TACTCCCAAAGGGACCAGCTT	0.428000													11	15					0	0	0.00136819	0	0
MYH9	4627	broad.mit.edu	37	22	36696966	36696966	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr22:36696966C>T	ENST00000216181.5	-	22	2999	c.2769G>A	c.(2767-2769)agG>agA	p.R923R		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	923					actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CCTCCTCCACCCTGGCCTCTA	0.637000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				31	49					0	0	0.00111076	0	0
TLN2	83660	broad.mit.edu	37	15	63031708	63031708	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:63031708C>T	ENST00000561311.1	+	30	4079	c.3849C>T	c.(3847-3849)ttC>ttT	p.F1283F	TLN2_ENST00000306829.6_Silent_p.F1283F|TLN2_ENST00000559908.1_3'UTR			Q9Y4G6	TLN2_HUMAN	talin 2	1283					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						TTGATGAATTCCTCGATGCTG	0.547000													12	40					0	0	0.00185496	0	0
BRINP1	1620	broad.mit.edu	37	9	121929778	121929778	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:121929778G>A	ENST00000265922.3	-	8	2331	c.1870C>T	c.(1870-1872)Cgg>Tgg	p.R624W	DBC1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		624					cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						GTAGGTAGCCGAGTCCGACTA	0.542000													25	45					0	0	0.00278032	0	0
CYP4B1	1580	broad.mit.edu	37	1	47276554	47276554	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:47276554C>T	ENST00000271153.4	+	2	291	c.255C>T	c.(253-255)ttC>ttT	p.F85F	CYP4B1_ENST00000371919.4_Silent_p.F85F|CYP4B1_ENST00000371923.4_Silent_p.F85F			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	85					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	p.F85F(2)		NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					CACTCTGGTTCGGACAGTTCA	0.567000													5	16					0	0	0.000602214	0	0
TTN	7273	broad.mit.edu	37	2	179552865	179552865	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:179552865C>T	ENST00000589042.1	-	127	32508	c.32284G>A	c.(32284-32286)Gaa>Aaa	p.E10762K	TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E9518K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E10445K|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589830.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10445	Glu-rich.|Pro-rich.						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)			TCTGCTTCTTCCTCCTCCTCT	0.388000													39	81					0	0	0.00195071	0	0
ACAN	176	broad.mit.edu	37	15	89400086	89400086	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:89400086C>T	ENST00000439576.2	+	12	4644	c.4270C>T	c.(4270-4272)Cct>Tct	p.P1424S	ACAN_ENST00000559004.1_Missense_Mutation_p.P1424S|ACAN_ENST00000352105.7_Missense_Mutation_p.P1424S|ACAN_ENST00000561243.1_Missense_Mutation_p.P1424S	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	1424					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GACTACTGCCCCTGGAGTAGA	0.532000													18	66					0	0	0.00074312	0	0
DGKK	139189	broad.mit.edu	37	X	50167291	50167291	+	RNA	SNP	A	A	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:50167291A>G	ENST00000376025.2	-	0	770							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					GAACCAGAAAATATCTAAGCT	0.403000													14	20					0	0	0.00400662	0	0
ZNF331	55422	broad.mit.edu	37	19	54080038	54080038	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:54080038G>A	ENST00000253144.9	+	7	1557	c.224G>A	c.(223-225)aGa>aAa	p.R75K	ZNF331_ENST00000512387.1_Missense_Mutation_p.R75K|ZNF331_ENST00000513265.1_Missense_Mutation_p.R75K|ZNF331_ENST00000449416.1_Missense_Mutation_p.R75K|ZNF331_ENST00000411977.2_Missense_Mutation_p.R75K|ZNF331_ENST00000511593.2_Missense_Mutation_p.R75K|ZNF331_ENST00000511154.1_Missense_Mutation_p.R75K|ZNF331_ENST00000513999.1_Missense_Mutation_p.R75K	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	75	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		TCAGATAGAAGAAGTAAATCC	0.388000			T	?	follicular thyroid adenoma								14	36					0	0	0.00185496	0	0
TNIK	23043	broad.mit.edu	37	3	170858235	170858235	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:170858235C>T	ENST00000436636.2	-	13	1629	c.1285G>A	c.(1285-1287)Gag>Aag	p.E429K	TNIK_ENST00000488470.1_Missense_Mutation_p.E429K|TNIK_ENST00000284483.8_Missense_Mutation_p.E429K|TNIK_ENST00000475336.1_Missense_Mutation_p.E429K|TNIK_ENST00000538048.1_Missense_Mutation_p.E429K|TNIK_ENST00000341852.6_Missense_Mutation_p.E429K|TNIK_ENST00000357327.5_Missense_Mutation_p.E429K|TNIK_ENST00000470834.1_Missense_Mutation_p.E429K|TNIK_ENST00000369326.5_Missense_Mutation_p.E429K|TNIK_ENST00000460047.1_Missense_Mutation_p.E429K	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	429	Mediates interaction with NEDD4.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			CGCATCTGCTCCTCATAGTGC	0.642000													15	70					0	0	0.00152264	0	0
OR4C16	219428	broad.mit.edu	37	11	55340154	55340154	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:55340154A>T	ENST00000314634.3	+	1	551	c.551A>T	c.(550-552)aAa>aTa	p.K184I		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	184					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				CCCTTGTTGAAACAAGCCTGT	0.433000													11	36					0	0	0.000978159	0	0
KRTAP1-3	81850	broad.mit.edu	37	17	39190932	39190932	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:39190932G>A	ENST00000344363.5	-	1	175	c.142C>T	c.(142-144)Cct>Tct	p.P48S		NM_030966.1	NP_112228.1	Q8IUG1	KRA13_HUMAN	keratin associated protein 1-3	58			Missing (in allele KAP1.1).			extracellular region|keratin filament	structural constituent of epidermis			cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(6)	12		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GAGAAGCTAGGAAATCCGCAG	0.622000													13	64					0	0	0.00244969	0	0
NFE2	4778	broad.mit.edu	37	12	54686971	54686971	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:54686971G>A	ENST00000540264.2	-	2	818	c.309C>T	c.(307-309)gcC>gcT	p.A103A	NFE2_ENST00000312156.4_Silent_p.A103A|NFE2_ENST00000553070.1_Silent_p.A103A|NFE2_ENST00000435572.2_Silent_p.A103A|RP11-968A15.8_ENST00000553061.1_RNA			Q16621	NFE2_HUMAN	nuclear factor, erythroid 2	103	Transactivation domain.				blood circulation|blood coagulation|multicellular organismal development|nucleosome disassembly|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	actin cytoskeleton|cytoplasm|PML body	protein dimerization activity|protein N-terminus binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|WW domain binding			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(7)|upper_aerodigestive_tract(2)	16						AGACTGGTATGGCCATGTTGC	0.592000													28	48					0	0	0.00178596	0	0
GAS2L2	246176	broad.mit.edu	37	17	34073271	34073271	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:34073271C>T	ENST00000254466.6	-	6	1272	c.1245G>A	c.(1243-1245)agG>agA	p.R415R	GAS2L2_ENST00000587565.1_Silent_p.R399R	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	415					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ATGTGGGAATCCTTCCCCTGG	0.587000													12	77					0	0	0.00185496	0	0
YEATS2	55689	broad.mit.edu	37	3	183442213	183442213	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:183442213T>C	ENST00000305135.5	+	6	739	c.544T>C	c.(544-546)Tct>Cct	p.S182P		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	182					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TCAGGATACTTCTAGAATTAC	0.333000													6	25					0	0	0.00198382	0	0
ABCB5	340273	broad.mit.edu	37	7	20739693	20739693	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:20739693G>T	ENST00000404938.2	+	19	2924	c.2272G>T	c.(2272-2274)Ggc>Tgc	p.G758C	ABCB5_ENST00000258738.6_Missense_Mutation_p.G313C	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	313	ABC transporter 2.				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						ATTATTTTACGGCAGAGCAGG	0.303000													18	122					1.36565e-18	3.99729e-18	0.00278032	1	0
FEN1	2237	broad.mit.edu	37	11	61563639	61563639	+	Missense_Mutation	SNP	C	C	T	rs138109450		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:61563639C>T	ENST00000305885.2	+	2	1219	c.806C>T	c.(805-807)cCt>cTt	p.P269L	FADS2_ENST00000574708.1_Intron	NM_004111.5	NP_004102.1	P39748	FEN1_HUMAN	flap structure-specific endonuclease 1	269					base-excision repair|DNA replication, removal of RNA primer|double-strand break repair|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|UV protection	mitochondrion|nucleolus|nucleoplasm	5'-3' exonuclease activity|5'-flap endonuclease activity|damaged DNA binding|double-stranded DNA binding|double-stranded DNA specific exodeoxyribonuclease activity|metal ion binding|protein binding|ribonuclease H activity			endometrium(1)|large_intestine(4)|lung(1)|ovary(1)	7						AACAAGTACCCTGTGCCAGAA	0.572000								Editing and processing nucleases					7	29					0	0	0.00198382	0	0
PPFIA1	8500	broad.mit.edu	37	11	70208401	70208401	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:70208401T>C	ENST00000253925.7	+	21	2887	c.2672T>C	c.(2671-2673)gTt>gCt	p.V891A	PPFIA1_ENST00000389547.3_Missense_Mutation_p.V891A|AP000487.6_ENST00000528607.1_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	891	SAM 1.				cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			CAGCTCTGGGTTGGGATGCCA	0.562000													8	27					0	0	0.000442599	0	0
TTN	7273	broad.mit.edu	37	2	179599168	179599168	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:179599168G>A	ENST00000589042.1	-	52	15607	c.15383C>T	c.(15382-15384)tCt>tTt	p.S5128F	TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.S3884F|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S4811F|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4811	Ig-like 31.						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)			ACACACAAGAGACTTCTGAGA	0.398000													11	68					0	0	0.00136819	0	0
LILRB1	10859	broad.mit.edu	37	19	55142956	55142956	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:55142956C>T	ENST00000396331.1	+	5	433	c.76C>T	c.(76-78)Ctc>Ttc	p.L26F	LILRB1_ENST00000396321.2_Missense_Mutation_p.L26F|LILRB1_ENST00000418536.2_Missense_Mutation_p.L26F|LILRB1_ENST00000448689.1_Missense_Mutation_p.L26F|LILRB1_ENST00000324602.7_Missense_Mutation_p.L26F|LILRB1_ENST00000396327.3_Missense_Mutation_p.L26F|LILRB1_ENST00000434867.2_Missense_Mutation_p.L26F|LILRB1_ENST00000427581.2_Missense_Mutation_p.L62F|LILRB1_ENST00000396315.1_Missense_Mutation_p.L26F|LILRB1_ENST00000396317.1_Missense_Mutation_p.L26F|LILRB1_ENST00000396332.4_Missense_Mutation_p.L26F	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	26					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)		TCCAGGGCACCTCCCCAAGCC	0.622000										HNSCC(37;0.09)			9	42					0	0	0.000978159	0	0
LCE3B	353143	broad.mit.edu	37	1	152586388	152586388	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:152586388C>T	ENST00000335633.1	+	1	102	c.102C>T	c.(100-102)tcC>tcT	p.S34S		NM_178433.1	NP_848520.1	Q5TA77	LCE3B_HUMAN	late cornified envelope 3B	34	Cys-rich.				keratinization					large_intestine(1)|lung(2)|prostate(1)	4	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0313)|Kidney(5;0.0367)		CTCCAGCCTCCTCCTGCTGTG	0.667000													9	32					0	0	0.000442599	0	0
ASB17	127247	broad.mit.edu	37	1	76397819	76397819	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:76397819T>G	ENST00000284142.6	-	1	297	c.158A>C	c.(157-159)aAa>aCa	p.K53T		NM_080868.2	NP_543144.1	Q8WXJ9	ASB17_HUMAN	ankyrin repeat and SOCS box containing 17	53					intracellular signal transduction					breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	21						CCTCAGAATTTTTGCCAGTGA	0.393000													34	98					0	0	0.00428921	0	0
EXPH5	23086	broad.mit.edu	37	11	108381478	108381478	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:108381478C>T	ENST00000265843.4	-	6	4866	c.4756G>A	c.(4756-4758)Gaa>Aaa	p.E1586K	EXPH5_ENST00000443411.1_Missense_Mutation_p.E1398K|EXPH5_ENST00000428840.1_Missense_Mutation_p.E1510K|EXPH5_ENST00000525344.1_Missense_Mutation_p.E1579K	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	1586					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		GATCTATTTTCCCCCTTTACT	0.418000													18	99					0	0	0.00229938	0	0
CYLC1	1538	broad.mit.edu	37	X	83128740	83128740	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:83128740G>A	ENST00000329312.4	+	4	1061	c.1024G>A	c.(1024-1026)Gat>Aat	p.D342N		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	342					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						AGACTCaaaggatgaaaggaa	0.343000													5	14					0	0	0.000602214	0	0
ITGA1	3672	broad.mit.edu	37	5	52221138	52221138	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:52221138G>A	ENST00000282588.6	+	19	2892	c.2434G>A	c.(2434-2436)Gaa>Aaa	p.E812K		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	812					axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				TGGAAATAAGGAAAAATGTAT	0.398000													10	56					0	0	0.00185496	0	0
CUBN	8029	broad.mit.edu	37	10	17152951	17152951	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:17152951G>A	ENST00000377833.4	-	9	1047	c.982C>T	c.(982-984)Cct>Tct	p.P328S		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	328	EGF-like 4; calcium-binding (Potential).				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GAAGACCCAGGTGTATTCACA	0.517000													17	38					0	0	0.00074312	0	0
SAMD12	401474	broad.mit.edu	37	8	119593061	119593061	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:119593061C>T	ENST00000409003.4	-	2	213	c.85G>A	c.(85-87)Gaa>Aaa	p.E29K	SAMD12_ENST00000314727.4_Missense_Mutation_p.E29K	NM_001101676.1	NP_001095146.1	Q8N8I0	SAM12_HUMAN	sterile alpha motif domain containing 12	29										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)			CCTTCACCTTCAATTTGCAGT	0.443000													9	19					0	0	0.000442599	0	0
MROH2B	133558	broad.mit.edu	37	5	40999860	40999860	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:40999860G>A	ENST00000399564.4	-	40	4954	c.4504C>T	c.(4504-4506)Ctg>Ttg	p.L1502L	MROH2B_ENST00000506092.2_Silent_p.L1057L	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B									p.L1502M(1)									AGGATCCACAGAATTTCCTGG	0.473000													18	30					0	0	0.00278032	0	0
CACNA1F	778	broad.mit.edu	37	X	49063015	49063015	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:49063015C>T	ENST00000376265.2	-	46	5523	c.5462G>A	c.(5461-5463)gGc>gAc	p.G1821D	CACNA1F_ENST00000323022.5_Missense_Mutation_p.G1810D|CACNA1F_ENST00000376251.1_Missense_Mutation_p.G1756D	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1821					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	ATGATAGGTGCCTGGGATGGG	0.622000													9	19					0	0	0.00136819	0	0
ARHGAP12	94134	broad.mit.edu	37	10	32197512	32197512	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:32197512G>A	ENST00000375250.5	-	3	513	c.272C>T	c.(271-273)tCc>tTc	p.S91F	ARHGAP12_ENST00000375245.4_Missense_Mutation_p.S91F|ARHGAP12_ENST00000396144.4_Missense_Mutation_p.S91F|ARHGAP12_ENST00000344936.2_Missense_Mutation_p.S91F|ARHGAP12_ENST00000311380.4_Missense_Mutation_p.S91F	NM_001270696.1	NP_001257625.1	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12	91					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)				TATTTTCGTGGAGTTATTTGG	0.448000													8	47					0	0	0.000274275	0	0
NPVF	64111	broad.mit.edu	37	7	25266433	25266433	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:25266433C>T	ENST00000222674.2	-	2	397	c.351G>A	c.(349-351)gaG>gaA	p.E117E		NM_022150.3	NP_071433.3	Q9HCQ7	RFRP_HUMAN	neuropeptide VF precursor	117					neuropeptide signaling pathway	extracellular region|membrane	G-protein coupled receptor activity			cervix(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						CGAGGCTCACCTCCATATTTC	0.493000													22	127					0	0	0.00188189	0	0
TMC2	117532	broad.mit.edu	37	20	2621818	2621818	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:2621818G>A	ENST00000358864.1	+	20	2557	c.2542G>A	c.(2542-2544)Gac>Aac	p.D848N		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	848						integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						CCAGGCCATGGACAAGAAGGC	0.572000													15	70					0	0	0.000958276	0	0
APOBEC2	10930	broad.mit.edu	37	6	41029481	41029481	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:41029481G>A	ENST00000244669.2	+	2	590	c.546G>A	c.(544-546)caG>caA	p.Q182Q		NM_006789.3	NP_006780.1	Q9Y235	ABEC2_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 2	182					DNA demethylation|mRNA processing		cytidine deaminase activity|RNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)	10	Ovarian(28;0.0418)|Colorectal(47;0.196)					TGAAGCCCCAGGACTTCGAAT	0.527000													8	77					0	0	0.000442599	0	0
RNF133	168433	broad.mit.edu	37	7	122338481	122338481	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:122338481G>A	ENST00000340112.2	-	1	729	c.492C>T	c.(490-492)ttC>ttT	p.F164F	CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000449022.2_Intron	NM_139175.1	NP_631914.1	Q8WVZ7	RN133_HUMAN	ring finger protein 133	164	PA.					endoplasmic reticulum membrane|integral to membrane	ligase activity|zinc ion binding			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						TAATTAAATGGAAAATTTCCG	0.423000													8	79					0	0	0.000442599	0	0
XIRP1	165904	broad.mit.edu	37	3	39227456	39227456	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:39227456G>A	ENST00000340369.3	-	2	3709	c.3481C>T	c.(3481-3483)Cag>Tag	p.Q1161*	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Intron	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1161							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GGTTCCCTCTGAGAAAGCTGG	0.647000													8	11					0	0	0.00307968	0	0
FAM26E	254228	broad.mit.edu	37	6	116836887	116836887	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:116836887A>T	ENST00000368599.3	+	2	716	c.665A>T	c.(664-666)gAg>gTg	p.E222V	TRAPPC3L_ENST00000368602.3_Intron	NM_153711.2	NP_714922.1	Q8N5C1	FA26E_HUMAN	family with sequence similarity 26, member E	222						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7		all_cancers(87;0.0608)|all_epithelial(87;0.05)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0242)|all cancers(137;0.0419)|OV - Ovarian serous cystadenocarcinoma(136;0.0671)|Epithelial(106;0.212)		GCACAAAAGGAGAAGGAGCAG	0.438000													10	29					0	0	0.00136819	0	0
AIMP2	7965	broad.mit.edu	37	7	6063007	6063007	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:6063007C>A	ENST00000223029.3	+	4	767	c.648C>A	c.(646-648)ttC>ttA	p.F216L	AIMP2_ENST00000400479.2_Missense_Mutation_p.F138L|AIMP2_ENST00000395236.2_Missense_Mutation_p.F147L|EIF2AK1_ENST00000199389.6_3'UTR	NM_006303.3	NP_006294.2	Q13155	AIMP2_HUMAN	aminoacyl tRNA synthetase complex-interacting multifunctional protein 2	216	Interaction with TP53.				apoptosis|cell differentiation|multicellular organismal development|tRNA aminoacylation for protein translation	cytosol|nucleus	protein binding			large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						TTGCACGTTTCTTGTTCTCTC	0.458000													12	65					1.5842e-08	4.61273e-08	0.00185496	1	0
LAIR2	3904	broad.mit.edu	37	19	55019221	55019221	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:55019221G>A	ENST00000301202.2	+	3	308	c.186G>A	c.(184-186)agG>agA	p.R62R	LAIR2_ENST00000351841.2_Silent_p.R62R	NM_002288.4	NP_002279.2	Q6ISS4	LAIR2_HUMAN	leukocyte-associated immunoglobulin-like receptor 2	62	Ig-like C2-type.					extracellular region	receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)	18	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0967)		GCCTGGAGAGGGAGGATAGAG	0.527000													9	44					0	0	0.000442599	0	0
LEPR	3953	broad.mit.edu	37	1	66075961	66075961	+	Silent	SNP	T	T	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:66075961T>C	ENST00000349533.6	+	14	2162	c.1977T>C	c.(1975-1977)aaT>aaC	p.N659N	LEPR_ENST00000371060.3_Silent_p.N659N|LEPR_ENST00000371058.1_Silent_p.N659N|LEPR_ENST00000371059.3_Silent_p.N659N|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000344610.8_Silent_p.N659N	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	659	Fibronectin type-III 3.				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)		AGGAGAAAAATGTCACTTTAC	0.274000													26	76					0	0	0.000878237	0	0
ZNF318	24149	broad.mit.edu	37	6	43306630	43306630	+	Silent	SNP	A	A	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:43306630A>G	ENST00000361428.2	-	10	5183	c.5106T>C	c.(5104-5106)agT>agC	p.S1702S	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1702					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			TCTGGAAGGAACTAGAGGTCC	0.502000													6	46					0	0	0.00198382	0	0
ATP2C2	9914	broad.mit.edu	37	16	84444324	84444324	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:84444324G>A	ENST00000416219.2	+	6	557	c.468G>A	c.(466-468)gaG>gaA	p.E156E	ATP2C2_ENST00000262429.4_Silent_p.E156E|ATP2C2_ENST00000420010.2_Intron			O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	156					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						ACAGGTCGGAGAAATCTCTGG	0.542000													10	27					0	0	0.000978159	0	0
EPHA8	2046	broad.mit.edu	37	1	22895813	22895813	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:22895813G>A	ENST00000166244.3	+	2	198	c.126G>A	c.(124-126)ggG>ggA	p.G42G	EPHA8_ENST00000374644.4_Silent_p.G42G|EPHA8_ENST00000538803.1_Silent_p.G42G	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	42						integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CCATCCACGGGGACTGGGGCT	0.587000													18	79					0	0	0.00188189	0	0
OR51A7	119687	broad.mit.edu	37	11	4929223	4929223	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:4929223G>A	ENST00000359350.4	+	1	624	c.624G>A	c.(622-624)ctG>ctA	p.L208L	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004749.1	NP_001004749.1	Q8NH64	O51A7_HUMAN	olfactory receptor, family 51, subfamily A, member 7	208					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTACTATGCTGGACTTGGCAC	0.443000													12	43					0	0	0.00185496	0	0
NPHS2	7827	broad.mit.edu	37	1	179520481	179520481	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:179520481G>A	ENST00000367615.4	-	8	1047	c.979C>T	c.(979-981)Ctt>Ttt	p.L327F	NPHS2_ENST00000367616.4_Missense_Mutation_p.L259F|AXDND1_ENST00000367618.3_Intron	NM_014625.2	NP_055440.1	Q9NP85	PODO_HUMAN	nephrosis 2, idiopathic, steroid-resistant (podocin)	327					excretion	integral to plasma membrane	protein binding			NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						AGAGACTGAAGGGTGTGGAGG	0.532000													9	45					0	0	0.00136819	0	0
TF	7018	broad.mit.edu	37	3	133489369	133489369	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:133489369G>A	ENST00000402696.3	+	14	2125	c.1640G>A	c.(1639-1641)gGa>gAa	p.G547E	TF_ENST00000264998.3_Missense_Mutation_p.G420E	NM_001063.3	NP_001054.1	P02787	TRFE_HUMAN	transferrin	547	Transferrin-like 2.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	GTTGAGAAGGGAGATGTGGCC	0.512000													24	81					0	0	0.00127121	0	0
GMIP	51291	broad.mit.edu	37	19	19746466	19746466	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:19746466C>T	ENST00000203556.4	-	14	1529	c.1392G>A	c.(1390-1392)gaG>gaA	p.E464E	GMIP_ENST00000587238.1_Intron|GMIP_ENST00000445806.2_Intron	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	464					negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						GGTCTCGCTCCTCAAAGTCAT	0.622000													16	67					0	0	0.00074312	0	0
ADORA3	140	broad.mit.edu	37	1	112106516	112106516	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:112106516C>T	ENST00000369717.4	-	1	68	c.59G>A	c.(58-60)tGg>tAg	p.W20*	RAP1A_ENST00000356415.1_Intron	NM_001081976.1	NP_001075445.1	P33765	AA3R_HUMAN	adenosine A3 receptor	0					activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)	CTGCTCTTCCCAGGAGCTTTC	0.562000													20	70					0	0	0.00332997	0	0
COPS2	9318	broad.mit.edu	37	15	49436470	49436470	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:49436470C>T	ENST00000388901.5	-	3	273	c.200G>A	c.(199-201)tGg>tAg	p.W67*	COPS2_ENST00000299259.6_Nonsense_Mutation_p.W67*|COPS2_ENST00000542928.1_Intron	NM_001143887.1|NM_004236.3	NP_001137359.1|NP_004227.1	P61201	CSN2_HUMAN	COP9 signalosome subunit 2	67					cullin deneddylation|transcription from RNA polymerase II promoter	cytoplasm|signalosome	protein binding|signal transducer activity			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(2)	18		all_lung(180;0.0428)		all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05)		TTTAAATCCCCATTCTCCTTT	0.289000													11	58					0	0	0.000978159	0	0
CHRNA2	1135	broad.mit.edu	37	8	27319156	27319156	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:27319156C>T	ENST00000407991.1	-	7	2188	c.1580G>A	c.(1579-1581)gGa>gAa	p.G527E	CHRNA2_ENST00000520933.2_Missense_Mutation_p.G527E|CHRNA2_ENST00000240132.2_Missense_Mutation_p.G512E	NM_000742.3	NP_000733.2	Q15822	ACHA2_HUMAN	cholinergic receptor, nicotinic, alpha 2 (neuronal)	527						cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine Iodide(DB00416)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199)	TCAGATCATTCCAGCTAGGAA	0.572000													12	62					0	0	0.00185496	0	0
LAMA5	3911	broad.mit.edu	37	20	60904097	60904097	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:60904097G>A	ENST00000252999.3	-	34	4316	c.4250C>T	c.(4249-4251)tCc>tTc	p.S1417F		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	1417	Domain IV 1 (domain IV B).				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCAGAACAGGGATGAGCTGCT	0.652000													4	20					0	0	0.00024832	0	0
UGT1A10	54575	broad.mit.edu	37	2	234545613	234545613	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:234545613C>T	ENST00000344644.5	+	1	514	c.445C>T	c.(445-447)Cct>Tct	p.P149S	UGT1A10_ENST00000373445.1_Missense_Mutation_p.P149S|UGT1A8_ENST00000373450.4_Intron	NM_019075.2	NP_061948.1														endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3)	32		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)		GTTTCTGGATCCTTTTGATAC	0.383000													42	52					0	0	0.00195071	0	0
SIRPG	55423	broad.mit.edu	37	20	1616841	1616841	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:1616841G>A	ENST00000381580.1	-	3	821	c.642C>T	c.(640-642)gcC>gcT	p.A214A	SIRPG_ENST00000381583.2_Silent_p.A247A|SIRPG_ENST00000344103.4_Intron|RP11-77C3.3_ENST00000456177.1_RNA|SIRPG_ENST00000303415.3_Silent_p.A247A|SIRPG_ENST00000216927.4_Silent_p.A247A			Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	247	Ig-like C1-type 1.				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						TACCTCGGATGGCCTCAGACA	0.627000													5	32					0	0	0.000602214	0	0
NFATC1	4772	broad.mit.edu	37	18	77170516	77170516	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:77170516C>T	ENST00000253506.5	+	2	610	c.241C>T	c.(241-243)Ccg>Tcg	p.P81S	NFATC1_ENST00000586434.1_Missense_Mutation_p.P68S|NFATC1_ENST00000542384.1_Missense_Mutation_p.P81S|NFATC1_ENST00000318065.5_Missense_Mutation_p.P68S|NFATC1_ENST00000427363.2_Missense_Mutation_p.P81S|NFATC1_ENST00000592223.1_Missense_Mutation_p.P68S|NFATC1_ENST00000545796.1_Intron|NFATC1_ENST00000587635.1_Missense_Mutation_p.P81S|NFATC1_ENST00000329101.4_Missense_Mutation_p.P68S|NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000591814.1_Missense_Mutation_p.P81S	NM_006162.3	NP_006153.2	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	81					intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		GGGCATCATCCCGCCGGCGGA	0.716000													8	31					0	0	0.000442599	0	0
MYOCD	93649	broad.mit.edu	37	17	12656424	12656424	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:12656424C>T	ENST00000425538.1	+	10	2019	c.1819C>T	c.(1819-1821)Cag>Tag	p.Q607*	MYOCD_ENST00000343344.4_Nonsense_Mutation_p.Q607*|MYOCD_ENST00000395988.1_Nonsense_Mutation_p.Q511*	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	607					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		TGCTCAACTCCAGCCTCTTGG	0.512000													28	51					0	0	0.00283554	0	0
LGI3	203190	broad.mit.edu	37	8	22006369	22006369	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:22006369C>T	ENST00000306317.2	-	8	1240	c.951G>A	c.(949-951)agG>agA	p.R317R	LGI3_ENST00000424267.2_Silent_p.R293R	NM_139278.2	NP_644807.1	Q8N145	LGI3_HUMAN	leucine-rich repeat LGI family, member 3	317					exocytosis	cell junction|extracellular region|synaptic vesicle|synaptosome				endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	17				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)		TGTCTTGCAGCCTGGTGAAGC	0.602000													8	16					0	0	0.000442599	0	0
SCN3A	6328	broad.mit.edu	37	2	166020975	166020975	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:166020975C>T	ENST00000360093.3	-	6	1020	c.529G>A	c.(529-531)Ggg>Agg	p.G177R	SCN3A_ENST00000283254.7_Missense_Mutation_p.G177R|SCN3A_ENST00000409101.3_Missense_Mutation_p.G177R	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	177						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	AAGCAAAACCCTCTTGCCAAG	0.368000													20	30					0	0	0.00188189	0	0
PILRA	29992	broad.mit.edu	37	7	99971761	99971761	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:99971761C>T	ENST00000198536.2	+	2	371	c.159C>T	c.(157-159)ttC>ttT	p.F53F	PILRA_ENST00000453419.1_Silent_p.F53F|PILRA_ENST00000350573.2_Silent_p.F53F|PILRA_ENST00000394000.2_Silent_p.F53F|PILRA_ENST00000474013.1_3'UTR	NM_013439.2	NP_038467.2	Q9UKJ1	PILRA_HUMAN	paired immunoglobin-like type 2 receptor alpha	53	Ig-like V-type.				interspecies interaction between organisms	extracellular region|integral to membrane|plasma membrane	protein binding|receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	15	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AAATCCCCTTCTCCTTCTATT	0.562000													5	44					0	0	0.000602214	0	0
ALOX15	246	broad.mit.edu	37	17	4540539	4540539	+	Silent	SNP	G	G	A	rs146411013		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:4540539G>A	ENST00000570836.1	-	8	918	c.822C>T	c.(820-822)ttC>ttT	p.F274F	ALOX15_ENST00000574640.1_Silent_p.F235F|ALOX15_ENST00000545513.1_Silent_p.F296F|ALOX15_ENST00000293761.3_Silent_p.F274F			P16050	LOX15_HUMAN	arachidonate 15-lipoxygenase	274	Lipoxygenase.				inflammatory response|leukotriene biosynthetic process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20				READ - Rectum adenocarcinoma(115;0.0327)	Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744)	AGTCAGCTTCGAACAGTGTGC	0.552000													8	26					0	0	0.000274275	0	0
PCDH18	54510	broad.mit.edu	37	4	138453061	138453061	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:138453061G>A	ENST00000344876.4	-	1	568	c.182C>T	c.(181-183)cCt>cTt	p.P61L	PCDH18_ENST00000412923.2_Missense_Mutation_p.P61L|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_Intron|PCDH18_ENST00000511115.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	61	Cadherin 1.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					AACAGTAGAAGGATTAGGAAG	0.413000													7	22					0	0	0.00198382	0	0
MS4A8	83661	broad.mit.edu	37	11	60482806	60482806	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:60482806C>T	ENST00000300226.2	+	7	875	c.672C>T	c.(670-672)atC>atT	p.I224I		NM_031457.1	NP_113645.1			membrane-spanning 4-domains, subfamily A, member 8																		ATCCAAACATCTATGCAGCAA	0.512000													5	29					0	0	0.00116845	0	0
SCN5A	6331	broad.mit.edu	37	3	38639450	38639450	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:38639450C>T	ENST00000413689.1	-	14	2225	c.2032G>A	c.(2032-2034)Gag>Aag	p.E678K	SCN5A_ENST00000333535.4_Missense_Mutation_p.E678K|SCN5A_ENST00000414099.2_Missense_Mutation_p.E678K|SCN5A_ENST00000450102.2_Missense_Mutation_p.E678K|SCN5A_ENST00000449557.2_Missense_Mutation_p.E678K|SCN5A_ENST00000443581.1_Missense_Mutation_p.E678K|SCN5A_ENST00000425664.1_Missense_Mutation_p.E678K|SCN5A_ENST00000451551.2_Missense_Mutation_p.E678K|SCN5A_ENST00000455624.2_Missense_Mutation_p.E678K|SCN5A_ENST00000423572.2_Missense_Mutation_p.E678K	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	678					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	TGGCGAGACTCCTCTAACTCT	0.512000													10	24					0	0	0.000673444	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882743	228882743	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:228882743C>T	ENST00000392056.3	-	7	2873	c.2827G>A	c.(2827-2829)Gaa>Aaa	p.E943K	SPHKAP_ENST00000344657.5_Missense_Mutation_p.E943K	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	943	PKA-RII subunit binding domain (By similarity).					cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GCTGCAATTTCAGTTGCCATG	0.478000													23	42					0	0	0.00278032	0	0
RP1	6101	broad.mit.edu	37	8	55540720	55540720	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:55540720G>A	ENST00000220676.1	+	4	4426	c.4278G>A	c.(4276-4278)agG>agA	p.R1426R		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1426					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)			GTTCACTAAGGAAGTTTCAGG	0.368000													5	69					0	0	0.00116845	0	0
SMARCA4	6597	broad.mit.edu	37	19	11152195	11152195	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:11152195G>C	ENST00000358026.2	+	31	4763	c.4479G>C	c.(4477-4479)aaG>aaC	p.K1493N	SMARCA4_ENST00000344626.4_Missense_Mutation_p.K1461N|SMARCA4_ENST00000450717.3_Missense_Mutation_p.K1431N|SMARCA4_ENST00000589677.1_Missense_Mutation_p.K1431N|SMARCA4_ENST00000429416.3_Missense_Mutation_p.K1461N|SMARCA4_ENST00000444061.3_Missense_Mutation_p.K1428N|SMARCA4_ENST00000541122.2_Missense_Mutation_p.K1431N|SMARCA4_ENST00000413806.3_Missense_Mutation_p.K1431N|SMARCA4_ENST00000590574.1_Missense_Mutation_p.K1428N	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1461	Bromo.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				TCACCAAGAAGATGAAGAAGA	0.637000			"""F, N, Mis"""		NSCLC								8	11					0	0	0.000442599	0	0
AOC3	8639	broad.mit.edu	37	17	41004938	41004938	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:41004938C>T	ENST00000308423.2	+	1	1738	c.1578C>T	c.(1576-1578)ttC>ttT	p.F526F		NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	526					amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	GCGCCCACTTCAAGGTGGATC	0.517000													21	22					0	0	0.00278032	0	0
UGT2B11	10720	broad.mit.edu	37	4	70080130	70080130	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:70080130C>T	ENST00000446444.1	-	1	319	c.311G>A	c.(310-312)aGc>aAc	p.S104N	RP11-704M14.1_ENST00000505646.1_RNA|RP11-704M14.1_ENST00000504301.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	104					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						TAACCAAAAGCTATCTTTTCG	0.289000													19	25					0	0	0.00395357	0	0
ZNF709	163051	broad.mit.edu	37	19	12574931	12574931	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:12574931G>A	ENST00000397732.3	-	4	1976	c.1805C>T	c.(1804-1806)tCc>tTc	p.S602F	ZNF709_ENST00000428311.1_Missense_Mutation_p.S602F|CTD-3105H18.18_ENST00000598753.1_Intron	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	602					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|upper_aerodigestive_tract(3)	6						GATTCGAAAGGAACGTGAGCA	0.423000													26	88					0	0	0.00106085	0	0
ROS1	6098	broad.mit.edu	37	6	117662625	117662625	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:117662625G>A	ENST00000368508.3	-	29	5038	c.4840C>T	c.(4840-4842)Cca>Tca	p.P1614S	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.P1608S	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	1614	Fibronectin type-III 7.				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)		CTTCCATTTGGAAATTCACTT	0.403000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								11	26					0	0	0.000978159	0	0
ZNF449	203523	broad.mit.edu	37	X	134483107	134483107	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:134483107C>T	ENST00000339249.4	+	3	567	c.427C>T	c.(427-429)Cta>Tta	p.L143L		NM_152695.5	NP_689908.3	Q6P9G9	ZN449_HUMAN	zinc finger protein 449	143					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					AACCATGCACCTAGAGTCACC	0.572000													12	32					0	0	0.00136819	0	0
MAGI2	9863	broad.mit.edu	37	7	77824279	77824279	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:77824279G>A	ENST00000354212.4	-	12	2434	c.2181C>T	c.(2179-2181)tcC>tcT	p.S727S	MAGI2_ENST00000522391.1_Silent_p.S727S|MAGI2_ENST00000419488.1_Silent_p.S727S	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	727						cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				AGTCAGGAAAGGAGCTCCTGT	0.517000													8	76					0	0	0.000274275	0	0
SPAG17	200162	broad.mit.edu	37	1	118509305	118509305	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:118509305C>T	ENST00000336338.5	-	47	6524	c.6459G>A	c.(6457-6459)aaG>aaA	p.K2153K		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	2153						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		GTGCTGATCCCTTGGCCCCAT	0.438000													20	61					0	0	0.00188189	0	0
PTPRN2	5799	broad.mit.edu	37	7	157341685	157341685	+	Silent	SNP	G	G	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:157341685G>T	ENST00000389413.3	-	21	2947	c.2844C>A	c.(2842-2844)acC>acA	p.T948T	PTPRN2_ENST00000409483.1_Silent_p.T939T|PTPRN2_ENST00000389418.4_Silent_p.T977T|PTPRN2_ENST00000389416.4_Silent_p.T960T|PTPRN2_ENST00000404321.2_Silent_p.T1000T	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	977	Substrate binding (By similarity).|Tyrosine-protein phosphatase.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		AGTGCTCCAGGGTCGCTGCGA	0.542000													7	95					0.00307968	0.00887212	0.00307968	1	0
ARHGAP29	9411	broad.mit.edu	37	1	94640093	94640093	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:94640093C>T	ENST00000260526.6	-	23	3300	c.3118G>A	c.(3118-3120)Gga>Aga	p.G1040R		NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	1040					Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		TTTACATTTCCCATATTTCTG	0.388000													23	53					0	0	0.00229938	0	0
L3MBTL4	91133	broad.mit.edu	37	18	6213171	6213171	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:6213171C>T	ENST00000400104.3	-	12	1158	c.958G>A	c.(958-960)Gat>Aat	p.D320N	L3MBTL4_ENST00000400105.2_Missense_Mutation_p.D320N|L3MBTL4_ENST00000535782.1_Missense_Mutation_p.D133N|L3MBTL4_ENST00000317931.7_Missense_Mutation_p.D320N|L3MBTL4_ENST00000284898.6_Missense_Mutation_p.D320N			Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	320					chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				TCATCAACATCTACAATCGTA	0.333000													6	55					0	0	0.00198382	0	0
NCOA1	8648	broad.mit.edu	37	2	24964782	24964782	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:24964782C>T	ENST00000405141.1	+	20	4144	c.3433C>T	c.(3433-3435)Cct>Tct	p.P1145S	NCOA1_ENST00000407230.1_Missense_Mutation_p.P994S|NCOA1_ENST00000348332.3_Missense_Mutation_p.P1145S|NCOA1_ENST00000288599.5_Missense_Mutation_p.P1145S|NCOA1_ENST00000538539.1_Missense_Mutation_p.P1145S|NCOA1_ENST00000406961.1_Missense_Mutation_p.P1145S|NCOA1_ENST00000395856.3_Missense_Mutation_p.P1145S			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	1145									PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAACAACCTCCCTCCCTCATC	0.527000			T	PAX3	alveolar rhadomyosarcoma								9	32					0	0	0.000673444	0	0
OR8H2	390151	broad.mit.edu	37	11	55873148	55873148	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:55873148C>T	ENST00000313503.1	+	1	630	c.630C>T	c.(628-630)tcC>tcT	p.S210S		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	210					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					TGATGGTGTCCCTTTTCACAA	0.403000										HNSCC(53;0.14)			9	56					0	0	0.000442599	0	0
TNXB	7148	broad.mit.edu	37	6	32037969	32037969	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:32037969C>T	ENST00000375244.3	-	14	5414	c.5213G>A	c.(5212-5214)aGa>aAa	p.R1738K	TNXB_ENST00000375247.2_Missense_Mutation_p.R1738K			P22105	TENX_HUMAN	tenascin XB	1820					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GAGGAGGAATCTGTACTTGCG	0.647000													10	109					0	0	0.00185496	0	0
PLOD1	5351	broad.mit.edu	37	1	12008121	12008121	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:12008121C>T	ENST00000196061.4	+	2	192	c.165C>T	c.(163-165)atC>atT	p.I55I	PLOD1_ENST00000485046.1_3'UTR|PLOD1_ENST00000376369.3_Silent_p.I102I	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	55					epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)	ACTACAAGATCCAGGTAAGGG	0.527000													7	55					0	0	0.00307968	0	0
ADCY8	114	broad.mit.edu	37	8	132002651	132002651	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:132002651C>T	ENST00000286355.5	-	2	3190	c.1098G>A	c.(1096-1098)gaG>gaA	p.E366E	ADCY8_ENST00000377928.3_Silent_p.E366E	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	366					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GTCTTTGGTTCTCTGTCTCCA	0.517000										HNSCC(32;0.087)			12	86					0	0	0.000978159	0	0
TMEM130	222865	broad.mit.edu	37	7	98452871	98452871	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:98452871G>A	ENST00000450876.1	-	5	1858	c.543C>T	c.(541-543)ttC>ttT	p.F181F	TMEM130_ENST00000339375.4_Silent_p.F265F|TMEM130_ENST00000345589.4_Silent_p.F163F|TMEM130_ENST00000546258.1_Silent_p.F246F|TMEM130_ENST00000416379.2_Silent_p.F265F			Q8N3G9	TM130_HUMAN	transmembrane protein 130	265	PKD.					Golgi membrane|integral to membrane				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			ACCTCCCCAGGAAGTTCAAGG	0.572000													8	70					0	0	0.000673444	0	0
ZNF195	7748	broad.mit.edu	37	11	3381464	3381464	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:3381464G>A	ENST00000354599.6	-	4	662	c.558C>T	c.(556-558)ttC>ttT	p.F186F	ZNF195_ENST00000399602.4_Silent_p.F258F|ZNF195_ENST00000343338.7_Silent_p.F190F|ZNF195_ENST00000526601.1_Silent_p.F239F|ZNF195_ENST00000438262.2_3'UTR|ZNF195_ENST00000429541.2_Silent_p.F190F|ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000005082.9_Silent_p.F235F	NM_001242843.1|NM_001256825.1|NM_007152.4	NP_001229772.1|NP_001243754.1|NP_009083.2	O14628	ZN195_HUMAN	zinc finger protein 195	258	Spacer.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		GTTCAGTTAGGAATGAGAGCA	0.338000													16	60					0	0	0.00316338	0	0
GOLGA2	2801	broad.mit.edu	37	9	131029752	131029752	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:131029752G>A	ENST00000421699.2	-	6	477	c.465C>T	c.(463-465)aaC>aaT	p.N155N		NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	155						Golgi cisterna membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						GATCCTTCAGGTTAGCAGACG	0.617000													21	15					0	0	0.00106085	0	0
NSUN2	54888	broad.mit.edu	37	5	6600194	6600194	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:6600194G>A	ENST00000264670.6	-	19	2460	c.2149C>T	c.(2149-2151)Ctc>Ttc	p.L717F	NSUN2_ENST00000539938.1_Missense_Mutation_p.L481F|NSUN2_ENST00000506139.1_Missense_Mutation_p.L682F	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN	NOP2/Sun RNA methyltransferase family, member 2	717						cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						TCATTTGTGAGGATAACCCCT	0.527000													31	31					0	0	0.000953801	0	0
BMP5	653	broad.mit.edu	37	6	55638866	55638866	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:55638866G>A	ENST00000370830.3	-	4	1706	c.1008C>T	c.(1006-1008)tcC>tcT	p.S336S	BMP5_ENST00000446683.2_Silent_p.S336S	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	336					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			TGGACATTCTGGAGGAGTCCT	0.448000													14	20					0	0	0.00316338	0	0
SLC22A5	6584	broad.mit.edu	37	5	131726460	131726460	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:131726460C>T	ENST00000245407.3	+	7	1352	c.1131C>T	c.(1129-1131)ttC>ttT	p.F377F	SLC22A5_ENST00000479605.1_3'UTR|SLC22A5_ENST00000435065.2_Silent_p.F401F	NM_003060.3	NP_003051.1	O76082	S22A5_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 5	377					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)	TGAACTGCTTCCTTTCAGCGA	0.507000													10	54					0	0	0.000978159	0	0
OR4D5	219875	broad.mit.edu	37	11	123810615	123810615	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:123810615C>T	ENST00000307033.2	+	1	366	c.292C>T	c.(292-294)Ctg>Ttg	p.L98L		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	98					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L98M(1)		autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TGGTGGATGCCTGACTCAACT	0.493000													13	52					0	0	0.00185496	0	0
JMJD7-PLA2G4B	8681	broad.mit.edu	37	15	42127241	42127241	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:42127241C>T	ENST00000382448.4	+	3	301	c.292C>T	c.(292-294)Cgc>Tgc	p.R98C	JMJD7-PLA2G4B_ENST00000542534.1_Missense_Mutation_p.R98C|JMJD7_ENST00000408047.1_5'UTR|JMJD7_ENST00000397299.4_Missense_Mutation_p.R98C|JMJD7-PLA2G4B_ENST00000342159.4_Missense_Mutation_p.R98C	NM_005090.3	NP_005081.1	P0C869	PA24B_HUMAN		0					arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity			endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2)	25						GAGAGGGGATCGCTTCATGAT	0.632000													15	30					0	0	0.00400662	0	0
MYBPC3	4607	broad.mit.edu	37	11	47354225	47354225	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:47354225C>T	ENST00000399249.2	-	31	3573	c.3519G>A	c.(3517-3519)aaG>aaA	p.K1173K	MYBPC3_ENST00000256993.4_Silent_p.K1172K|MYBPC3_ENST00000545968.1_Silent_p.K1173K			Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	1172					cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		AGTCCAGGGCCTTATAGTTGG	0.612000													3	6					0	0	6.4e-05	0	0
GID8	54994	broad.mit.edu	37	20	61572944	61572944	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:61572944C>T	ENST00000266069.3	+	2	237	c.90C>T	c.(88-90)aaC>aaT	p.N30N		NM_017896.2	NP_060366.1			GID complex subunit 8																		CAGACATGAACCGCCTCATCA	0.418000													12	85					0	0	0.00185496	0	0
TSHZ2	128553	broad.mit.edu	37	20	51870346	51870346	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:51870346G>A	ENST00000371497.5	+	2	1236	c.349G>A	c.(349-351)Gaa>Aaa	p.E117K	TSHZ2_ENST00000329613.6_Missense_Mutation_p.E114K|TSHZ2_ENST00000603338.2_Missense_Mutation_p.E114K	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	117					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E117K(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			GCTTCCAAACGAAGCACACAA	0.527000													8	24					0	0	0.00307968	0	0
GLDC	2731	broad.mit.edu	37	9	6587222	6587222	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:6587222C>T	ENST00000321612.6	-	15	1919	c.1769G>A	c.(1768-1770)gGa>gAa	p.G590E		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	590					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	CTGCTGATATCCTTGAGCTTG	0.403000													25	56					0	0	0.00395357	0	0
ADAR	103	broad.mit.edu	37	1	154574585	154574585	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:154574585G>A	ENST00000368474.4	-	2	732	c.533C>T	c.(532-534)tCc>tTc	p.S178F	ADAR_ENST00000292205.5_Missense_Mutation_p.S221F|ADAR_ENST00000368471.3_5'UTR|ADAR_ENST00000471068.1_5'UTR	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102.2|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	178					adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		CTTTGCCAGGGAGTATAAAAC	0.517000													25	98					0	0	0.00209593	0	0
IL1RL2	8808	broad.mit.edu	37	2	102805703	102805703	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:102805703G>A	ENST00000264257.2	+	3	352	c.226G>A	c.(226-228)Gac>Aac	p.D76N	IL1RL2_ENST00000539491.1_Missense_Mutation_p.D76N|IL1RL2_ENST00000481806.1_Intron|IL1RL2_ENST00000441515.2_Intron	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	76	Ig-like C2-type 1.				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						AATTCACCAGGACGAGACTTG	0.393000													12	18					0	0	0.00185496	0	0
OR4X1	390113	broad.mit.edu	37	11	48285545	48285545	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:48285545G>A	ENST00000320048.1	+	1	133	c.133G>A	c.(133-135)Gtg>Atg	p.V45M		NM_001004726.1	NP_001004726.1	Q8NH49	OR4X1_HUMAN	olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)	45					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						CCTCATTGTGGTGACCATCCT	0.493000													10	15					0	0	0.000442599	0	0
ANKRD10	55608	broad.mit.edu	37	13	111558405	111558405	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr13:111558405G>A	ENST00000375758.5	-	3	564	c.430C>T	c.(430-432)Ctt>Ttt	p.L144F	ANKRD10_ENST00000310847.4_Missense_Mutation_p.L144F|ANKRD10_ENST00000267339.2_Missense_Mutation_p.L144F|ANKRD10_ENST00000489973.2_5'UTR			Q9NXR5	ANR10_HUMAN	ankyrin repeat domain 10	144										central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)	9	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		all cancers(43;0.0882)|BRCA - Breast invasive adenocarcinoma(86;0.188)|Lung(89;0.208)			TTCGCCACAAGGGCACTGATG	0.433000													5	10					0	0	0.00116845	0	0
CACNA1E	777	broad.mit.edu	37	1	181701924	181701924	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:181701924G>A	ENST00000526775.1	+	19	2810	c.2645G>A	c.(2644-2646)gGa>gAa	p.G882E	CACNA1E_ENST00000367573.2_Missense_Mutation_p.G901E|CACNA1E_ENST00000367570.1_Missense_Mutation_p.G901E|CACNA1E_ENST00000367567.4_Missense_Mutation_p.G508E|CACNA1E_ENST00000357570.5_Missense_Mutation_p.G852E|CACNA1E_ENST00000360108.3_Missense_Mutation_p.G882E|CACNA1E_ENST00000358338.5_Missense_Mutation_p.G833E	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	901					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GAGGCAGGGGGAGGAGAGGCT	0.662000													7	43					0	0	0.00307968	0	0
PCYT1A	5130	broad.mit.edu	37	3	195975147	195975147	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:195975147G>A	ENST00000292823.2	-	5	437	c.265C>T	c.(265-267)Cac>Tac	p.H89Y	PCYT1A_ENST00000491544.1_5'UTR|PCYT1A_ENST00000431016.1_Missense_Mutation_p.H89Y|PCYT1A_ENST00000419333.1_Missense_Mutation_p.H89Y	NM_005017.2	NP_005008.2	P49585	PCY1A_HUMAN	phosphate cytidylyltransferase 1, choline, alpha	89	Catalytic (Potential).					cytosol|soluble fraction	choline-phosphate cytidylyltransferase activity			cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1)	18	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00259)	Choline(DB00122)	TGACCAGAGTGAAATAAGTCA	0.403000													26	74					0	0	0.00127121	0	0
FYCO1	79443	broad.mit.edu	37	3	46009867	46009867	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:46009867T>A	ENST00000296137.2	-	8	1164	c.959A>T	c.(958-960)cAg>cTg	p.Q320L	FYCO1_ENST00000535325.1_Missense_Mutation_p.Q320L	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	320					transport	integral to membrane	metal ion binding|protein binding			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		CTCCAGGCCCTGCAGGCATGT	0.622000													13	17					0	0	0.00316338	0	0
HEPACAM	220296	broad.mit.edu	37	11	124793776	124793776	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:124793776G>A	ENST00000298251.4	-	3	963	c.558C>T	c.(556-558)ccC>ccT	p.P186P		NM_152722.4	NP_689935.2	Q14CZ8	HECAM_HUMAN	hepatic and glial cell adhesion molecule	186	Ig-like C2-type.				cell adhesion|cell cycle arrest|regulation of growth	cytoplasm|integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		CATTGAGGAGGGGCTTGCCAT	0.577000													11	14					0	0	0.000978159	0	0
ZNF273	10793	broad.mit.edu	37	7	64388601	64388601	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:64388601T>C	ENST00000476120.1	+	4	966	c.895T>C	c.(895-897)Ttt>Ctt	p.F299L	ZNF273_ENST00000527278.1_3'UTR|ZNF273_ENST00000319636.5_Missense_Mutation_p.F234L	NM_021148.2	NP_066971.2	Q14593	ZN273_HUMAN	zinc finger protein 273	299					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Lung NSC(55;0.0295)|all_lung(88;0.0691)				TGGCAAAGTCTTTAGTGTATT	0.328000													8	58					0	0	0.000274275	0	0
MRC1	4360	broad.mit.edu	37	10	17949596	17949596	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:17949596G>A	ENST00000331429.2	+	28	4063	c.3960G>A	c.(3958-3960)tgG>tgA	p.W1320*																	breast(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TTGTCAACTGGAACACAGGAG	0.393000													11	22					0	0	0.000958276	0	0
GALNT3	2591	broad.mit.edu	37	2	166615345	166615345	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:166615345G>A	ENST00000392701.3	-	6	1878	c.1103C>T	c.(1102-1104)tCc>tTc	p.S368F	GALNT3_ENST00000409882.1_Missense_Mutation_p.S106F	NM_004482.3	NP_004473.2	Q14435	GALT3_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)	368	Catalytic subdomain B.				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	calcium ion binding|manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						TTTTGATATGGAAAAAAGTCC	0.299000													22	119					0	0	0.00332997	0	0
RPS6KC1	26750	broad.mit.edu	37	1	213414579	213414579	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:213414579C>T	ENST00000366960.3	+	11	1910	c.1760C>T	c.(1759-1761)tCa>tTa	p.S587L	RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000543354.1_Missense_Mutation_p.S290L|RPS6KC1_ENST00000543470.1_Missense_Mutation_p.S375L|RPS6KC1_ENST00000366959.3_Missense_Mutation_p.S575L	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	587					cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		CCAAGAACATCAGATTCCCTC	0.473000													5	12					0	0	0.000602214	0	0
GFOD1	54438	broad.mit.edu	37	6	13365590	13365590	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:13365590G>A	ENST00000379287.3	-	2	1222	c.558C>T	c.(556-558)ttC>ttT	p.F186F	GFOD1_ENST00000379284.1_Silent_p.F83F	NM_018988.3	NP_061861.1	Q9NXC2	GFOD1_HUMAN	glucose-fructose oxidoreductase domain containing 1	186						extracellular region	binding|oxidoreductase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)	18	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)	Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108)			GGCCGGTGAGGAAGGTGAGCA	0.607000													8	28					0	0	0.00307968	0	0
IGSF9B	22997	broad.mit.edu	37	11	133801384	133801384	+	Silent	SNP	G	G	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:133801384G>C	ENST00000321016.8	-	10	1562	c.1332C>G	c.(1330-1332)gcC>gcG	p.A444A	IGSF9B_ENST00000533871.2_Silent_p.A444A			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	444	Ig-like 5.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GGTCCCCTGCGGCAGCACAGG	0.662000													6	24					0	0	0.000274275	0	0
TMC5	79838	broad.mit.edu	37	16	19501851	19501851	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:19501851G>A	ENST00000396229.2	+	18	3457	c.2708G>A	c.(2707-2709)gGa>gAa	p.G903E	TMC5_ENST00000541464.1_Missense_Mutation_p.G851E|TMC5_ENST00000564959.1_Missense_Mutation_p.G586E|TMC5_ENST00000561503.1_Missense_Mutation_p.G544E|TMC5_ENST00000219821.5_Missense_Mutation_p.G657E|TMC5_ENST00000381414.4_Intron|TMC5_ENST00000542583.2_Missense_Mutation_p.G903E	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	903						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						AACCTCATTGGAAGTGTGCAC	0.527000													31	106					0	0	0.00327116	0	0
C6	729	broad.mit.edu	37	5	41203290	41203290	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:41203290G>A	ENST00000263413.3	-	2	307	c.43C>T	c.(43-45)Ctg>Ttg	p.L15L	C6_ENST00000337836.5_Silent_p.L15L	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	15					complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			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)				TTGTTGATCAGAGCATTCAGC	0.473000													15	72					0	0	0.00244969	0	0
ZNF804A	91752	broad.mit.edu	37	2	185800767	185800767	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:185800767C>T	ENST00000302277.6	+	4	1238	c.644C>T	c.(643-645)tCt>tTt	p.S215F		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	215						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						ATCGGCTTTTCTTTTGCATTT	0.433000													10	55					0	0	0.000673444	0	0
RUFY1	80230	broad.mit.edu	37	5	179028973	179028973	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:179028973C>T	ENST00000319449.4	+	15	1854	c.1842C>T	c.(1840-1842)ggC>ggT	p.G614G	RP11-1379J22.2_ENST00000500262.1_RNA|RUFY1_ENST00000437570.2_Silent_p.G506G|RUFY1_ENST00000393438.2_Silent_p.G506G|RUFY1_ENST00000377001.2_3'UTR	NM_025158.4	NP_079434.3	Q96T51	RUFY1_HUMAN	RUN and FYVE domain containing 1	614					endocytosis|protein transport	early endosome membrane	lipid binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGGAAATGGGCCTGCACCTCA	0.572000										HNSCC(44;0.11)			7	33					0	0	0.00198382	0	0
THSD1	55901	broad.mit.edu	37	13	52971631	52971631	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr13:52971631C>T	ENST00000349258.4	-	3	1301	c.757G>A	c.(757-759)Gag>Aag	p.E253K	THSD1_ENST00000258613.4_Missense_Mutation_p.E253K|THSD1_ENST00000544466.1_Intron	NM_199263.2	NP_954872.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	253						extracellular region|integral to membrane|intracellular membrane-bounded organelle				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		ACCCCGGACTCACATGTGAGT	0.557000													6	24					0	0	0.00116845	0	0
NAALAD2	10003	broad.mit.edu	37	11	89909193	89909193	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:89909193G>A	ENST00000534061.1	+	15	1786	c.1556G>A	c.(1555-1557)gGa>gAa	p.G519E	NAALAD2_ENST00000375944.3_Intron|NAALAD2_ENST00000321955.4_Missense_Mutation_p.G486E	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	519	NAALADase.				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				CAGAGACTTGGAATTGCTTCA	0.378000													13	47					0	0	0.000566183	0	0
PLCB1	23236	broad.mit.edu	37	20	8755294	8755294	+	Silent	SNP	G	G	A	rs139859188	byFrequency	TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:8755294G>A	ENST00000378641.3	+	27	3514	c.3039G>A	c.(3037-3039)caG>caA	p.Q1013Q	PLCB1_ENST00000378637.2_Silent_p.Q1013Q|PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000338037.6_Silent_p.Q1013Q	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	1013					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	p.Q1013H(1)		NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						ACAAACAACAGCAGCAGCTGC	0.418000													8	65					0	0	0.000673444	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995249	140995249	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:140995249G>A	ENST00000285879.4	+	4	2345	c.2059G>A	c.(2059-2061)Gat>Aat	p.D687N	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	687							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TGAGGGGGAGGATTCCCTGTC	0.577000										HNSCC(15;0.026)			9	28					0	0	0.000442599	0	0
ATF6B	1388	broad.mit.edu	37	6	32083537	32083537	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:32083537G>A	ENST00000375201.4	-	18	2127	c.2082C>T	c.(2080-2082)ccC>ccT	p.P694P	ATF6B_ENST00000375203.3_Silent_p.P697P			Q99941	ATF6B_HUMAN	activating transcription factor 6 beta	697					response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						TGAGGTAGAGGGGCTGGTGGG	0.612000													36	268					0	0	0.00148497	0	0
NF1	4763	broad.mit.edu	37	17	29684049	29684049	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:29684049C>T	ENST00000358273.4	+	53	8193	c.7810C>T	c.(7810-7812)Ctc>Ttc	p.L2604F	NF1_ENST00000356175.3_Missense_Mutation_p.L2583F|NF1_ENST00000417592.2_3'UTR|NF1_ENST00000444181.2_Missense_Mutation_p.L397F	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2604					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ATCAAATGTTCTCTTGGATGA	0.423000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			63	57					0	0	0.00361006	0	0
KRT82	3888	broad.mit.edu	37	12	52788801	52788801	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:52788801C>T	ENST00000257974.2	-	9	1577	c.1500G>A	c.(1498-1500)atG>atA	p.M500I	RP3-416H24.4_ENST00000547174.1_RNA	NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	500	Tail.					keratin filament	protein binding|structural constituent of epidermis			endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		CTCCTAGCGTCATGCTGGATT	0.632000													9	21					0	0	0.000274275	0	0
ZNF777	27153	broad.mit.edu	37	7	149152685	149152685	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:149152685G>A	ENST00000247930.4	-	2	752	c.429C>T	c.(427-429)tcC>tcT	p.S143S		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	143					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			GAACTGTTGGGGAAAGGGTCA	0.587000													16	155					0	0	0.00400662	0	0
DCLRE1C	64421	broad.mit.edu	37	10	14968864	14968864	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:14968864G>A	ENST00000453695.2	-	11	1034	c.590C>T	c.(589-591)tCt>tTt	p.S197F	DCLRE1C_ENST00000492201.1_5'UTR|DCLRE1C_ENST00000378289.4_Missense_Mutation_p.S317F|DCLRE1C_ENST00000378249.1_Missense_Mutation_p.S202F|DCLRE1C_ENST00000378258.1_Missense_Mutation_p.S197F|DCLRE1C_ENST00000378254.1_Missense_Mutation_p.S197F|DCLRE1C_ENST00000378246.2_Missense_Mutation_p.S202F|DCLRE1C_ENST00000378255.1_Missense_Mutation_p.S197F|DCLRE1C_ENST00000396817.2_Missense_Mutation_p.S197F|DCLRE1C_ENST00000378278.2_Missense_Mutation_p.S317F|DCLRE1C_ENST00000357717.2_Missense_Mutation_p.S202F	NM_001033855.1	NP_001029027.1	Q96SD1	DCR1C_HUMAN	DNA cross-link repair 1C	317					DNA recombination	nucleus	5'-3' exonuclease activity|single-stranded DNA specific endodeoxyribonuclease activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						GGAGTGAAAAGAAAAACAAGC	0.433000								Non-homologous end-joining					11	30					0	0	0.00244969	0	0
MUC16	94025	broad.mit.edu	37	19	9020785	9020785	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:9020785G>A	ENST00000397910.4	-	20	37520	c.37317C>T	c.(37315-37317)ggC>ggT	p.G12439G		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12441	SEA 3.				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						TCAGTCTGCAGCCAGAGTACA	0.542000													7	23					0	0	0.00307968	0	0
KMT2A	4297	broad.mit.edu	37	11	118353184	118353184	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:118353184C>T	ENST00000534358.1	+	8	4083	c.4060C>T	c.(4060-4062)Cct>Tct	p.P1354S	KMT2A_ENST00000354520.4_Missense_Mutation_p.P1354S|KMT2A_ENST00000389506.5_Missense_Mutation_p.P1354S|KMT2A_ENST00000420751.2_Intron	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		CCCAAGTATCCCTGTAAAACA	0.403000													27	24					0	0	0.00178596	0	0
SLC13A1	6561	broad.mit.edu	37	7	122759254	122759254	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:122759254G>A	ENST00000194130.2	-	13	1432	c.1393C>T	c.(1393-1395)Ctg>Ttg	p.L465L	SLC13A1_ENST00000539873.1_3'UTR	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	465						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)	AATGAACCCAGAGGAGATAAT	0.343000													9	74					0	0	0.00136819	0	0
HEATR1	55127	broad.mit.edu	37	1	236721799	236721799	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:236721799G>A	ENST00000366582.3	-	36	5056	c.4942C>T	c.(4942-4944)Ctt>Ttt	p.L1648F	HEATR1_ENST00000366581.2_Missense_Mutation_p.L1567F	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	1648					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			ATGGCCAAAAGGTCTGGAACC	0.408000													16	37					0	0	0.000566183	0	0
SPTA1	6708	broad.mit.edu	37	1	158650416	158650416	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:158650416C>T	ENST00000368148.3	-	5	815	c.635G>A	c.(634-636)gGg>gAg	p.G212E	SPTA1_ENST00000368147.3_Missense_Mutation_p.G212E	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	212					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.G212V(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AACAACTCTCCCTTCTTTAGC	0.463000													17	62					0	0	0.00121646	0	0
DPPA4	55211	broad.mit.edu	37	3	109052744	109052744	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:109052744C>T	ENST00000335658.6	-	2	205	c.151G>A	c.(151-153)Gaa>Aaa	p.E51K	DPPA4_ENST00000478791.1_5'UTR	NM_018189.3	NP_060659.3	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	51						nucleus	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						GACATTTTTTCTTTGGTTCTC	0.428000													7	61					0	0	0.000442599	0	0
COL12A1	1303	broad.mit.edu	37	6	75884929	75884929	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:75884929G>A	ENST00000322507.8	-	13	2844	c.2535C>T	c.(2533-2535)ctC>ctT	p.L845L	COL12A1_ENST00000483888.2_Silent_p.L845L|COL12A1_ENST00000416123.2_Silent_p.L845L|COL12A1_ENST00000345356.6_Intron	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	845	Fibronectin type-III 5.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TATATGTGACGAGATACTGTT	0.473000													19	62					0	0	0.00152264	0	0
EPB41L4B	54566	broad.mit.edu	37	9	111979238	111979238	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:111979238G>A	ENST00000374566.3	-	16	2114	c.1597C>T	c.(1597-1599)Ctg>Ttg	p.L533L		NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	533						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGGGACCTCAGAGGCCCCTCT	0.582000													13	32					0	0	0.00244969	0	0
PITPNM3	83394	broad.mit.edu	37	17	6441390	6441390	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:6441390G>C	ENST00000262483.8	-	2	122	c.35C>G	c.(34-36)cCg>cGg	p.P12R	ACKR6_ENST00000421306.3_Missense_Mutation_p.P12R	NM_031220.3	NP_112497.2																					ACCGCCGCCCGGGGGAGGACC	0.562000													7	11					0	0	0.000978159	0	0
GPR116	221395	broad.mit.edu	37	6	46874485	46874485	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:46874485C>A	ENST00000283296.7	-	2	303	c.15G>T	c.(13-15)agG>agT	p.R5S	RP3-365O12.2_ENST00000451135.1_RNA|GPR116_ENST00000456426.2_Missense_Mutation_p.R5S|GPR116_ENST00000362015.4_Missense_Mutation_p.R5S|GPR116_ENST00000265417.7_Missense_Mutation_p.R5S	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	5					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			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)			AAGTGGTTCTCCTTGGGGATT	0.358000													21	86					3.62473e-10	1.05718e-09	0.00188189	1	0
FAM46C	54855	broad.mit.edu	37	1	118166491	118166491	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:118166491C>T	ENST00000369448.3	+	2	1248	c.1001C>T	c.(1000-1002)tCc>tTc	p.S334F		NM_017709.3	NP_060179.2	Q5VWP2	FA46C_HUMAN	family with sequence similarity 46, member C	334										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	15	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)		AACCTCATCTCCCTCCTGGCC	0.567000			"""Mis, F, O"""		MM					Multiple Myeloma(3;1.13e-06)			7	14					0	0	0.000274275	0	0
HYDIN	54768	broad.mit.edu	37	16	70841528	70841528	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:70841528C>T	ENST00000393567.2	-	86	15471	c.15321G>A	c.(15319-15321)gaG>gaA	p.E5107E		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	5107										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)				TAACTCCAGTCTCACTCCCTT	0.473000													9	42					0	0	0.00136819	0	0
KCNJ3	3760	broad.mit.edu	37	2	155566249	155566249	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:155566249C>T	ENST00000295101.2	+	2	1314	c.837C>T	c.(835-837)ccC>ccT	p.P279P	KCNJ3_ENST00000493505.1_3'UTR|KCNJ3_ENST00000544049.1_Intron	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	279					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	CCAAAAGCCCCTTTTATGACC	0.443000													13	35					0	0	0.00185496	0	0
RUNDC3B	154661	broad.mit.edu	37	7	87370852	87370852	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:87370852C>T	ENST00000338056.3	+	7	1048	c.637C>T	c.(637-639)Cct>Tct	p.P213S	RUNDC3B_ENST00000394654.3_Missense_Mutation_p.P196S|RUNDC3B_ENST00000493037.1_Missense_Mutation_p.P196S|RUNDC3B_ENST00000496000.1_3'UTR	NM_001134405.1|NM_138290.2	NP_001127877.1|NP_612147.1	Q96NL0	RUN3B_HUMAN	RUN domain containing 3B	213										breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26	Esophageal squamous(14;0.00164)					TGGCAGTTTTCCTGCTGTAAT	0.274000													8	56					0	0	0.000442599	0	0
SDF4	51150	broad.mit.edu	37	1	1164101	1164101	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:1164101G>A	ENST00000263741.7	-	2	365	c.73C>T	c.(73-75)Ctc>Ttc	p.L25F	SDF4_ENST00000459994.2_5'UTR|SDF4_ENST00000545427.1_Missense_Mutation_p.L25F|SDF4_ENST00000360001.6_Missense_Mutation_p.L25F	NM_016176.3|NM_016547.2	NP_057260.2|NP_057631.1	Q9BRK5	CAB45_HUMAN	stromal cell derived factor 4	25					cerebellum development|fat cell differentiation|response to ethanol|UV protection|zymogen granule exocytosis	bleb|Golgi lumen|late endosome|soluble fraction	calcium ion binding|identical protein binding|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204)		GCCCCCAGGAGCCAGAGGCAG	0.667000													5	8					0	0	0.000602214	0	0
PCDHA2	56146	broad.mit.edu	37	5	140176221	140176221	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:140176221G>A	ENST00000526136.1	+	1	1672	c.1672G>A	c.(1672-1674)Gag>Aag	p.E558K	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.E558K|PCDHA2_ENST00000520672.2_Missense_Mutation_p.E558K|PCDHA1_ENST00000394633.3_Intron	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGCTGGACGAGAACGACAA	0.687000													7	37					0	0	0.000442599	0	0
IGHV1-69	28461	broad.mit.edu	37	14	107170072	107170072	+	RNA	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:107170072G>A	ENST00000390633.2	-	0	270																											AGATAGGGATGATCCCTCCCA	0.557000													5	28					0	0	0.00198382	0	0
SMAD1	4086	broad.mit.edu	37	4	146467983	146467983	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:146467983C>T	ENST00000515385.1	+	5	1446	c.904C>T	c.(904-906)Cct>Tct	p.P302S	SMAD1_ENST00000394092.2_Missense_Mutation_p.P302S|SMAD1_ENST00000302085.4_Missense_Mutation_p.P302S			Q15797	SMAD1_HUMAN	SMAD family member 1	302	MH2.				BMP signaling pathway|embryonic pattern specification|primary miRNA processing|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway	cytosol|integral to membrane|nuclear inner membrane	co-SMAD binding|I-SMAD binding|identical protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	17	all_hematologic(180;0.151)					TTTCACTGATCCTTCCAACAA	0.463000													15	53					0	0	0.00316338	0	0
FLG2	388698	broad.mit.edu	37	1	152326459	152326459	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:152326459C>T	ENST00000388718.5	-	3	3875	c.3803G>A	c.(3802-3804)cGa>cAa	p.R1268Q	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1268	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTAGATCTTCGTCTTCTAGT	0.458000													33	90					0	0	0.00327116	0	0
MYT1L	23040	broad.mit.edu	37	2	1983546	1983546	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:1983546C>T	ENST00000399161.2	-	6	751	c.4G>A	c.(4-6)Gag>Aag	p.E2K	MYT1L_ENST00000428368.2_Missense_Mutation_p.E2K	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	2					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GTGTCCACCTCCATCTGGGGA	0.607000													4	7					0	0	0.00116845	0	0
TAS1R1	80835	broad.mit.edu	37	1	6631005	6631005	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:6631005C>T	ENST00000333172.6	+	2	421	c.228C>T	c.(226-228)ttC>ttT	p.F76F	TAS1R1_ENST00000351136.3_Silent_p.F76F|TAS1R1_ENST00000328191.4_Silent_p.F76F	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	76					sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		ACCACCTCTTCCAGGCTATGC	0.547000													11	50					0	0	0.00136819	0	0
DPPA2	151871	broad.mit.edu	37	3	109031453	109031453	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:109031453C>T	ENST00000478945.1	-	3	366	c.120G>A	c.(118-120)atG>atA	p.M40I		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	40						nucleus	nucleic acid binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CGCTTGGTTCCATTTGTTCCA	0.413000													18	97					0	0	0.00152264	0	0
KBTBD2	25948	broad.mit.edu	37	7	32909888	32909888	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:32909888G>A	ENST00000304056.4	-	4	1640	c.941C>T	c.(940-942)cCt>cTt	p.P314L	AVL9_ENST00000404479.1_Intron	NM_015483.2	NP_056298.2	Q8IY47	KBTB2_HUMAN	kelch repeat and BTB (POZ) domain containing 2	314										endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|urinary_tract(1)	17			GBM - Glioblastoma multiforme(11;0.0499)			ATCATTATCAGGAGTTACAAC	0.413000													15	78					0	0	0.00400662	0	0
MED13L	23389	broad.mit.edu	37	12	116444160	116444160	+	Silent	SNP	C	C	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:116444160C>A	ENST00000281928.3	-	12	2501	c.2295G>T	c.(2293-2295)gtG>gtT	p.V765V		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	765					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent			p.V765V(1)		NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		TCCCATCAGGCACCGGCGTGG	0.413000													12	53					2.61681e-11	7.63576e-11	0.00244969	1	0
ZSWIM4	65249	broad.mit.edu	37	19	13915869	13915869	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:13915869C>T	ENST00000254323.2	+	3	808	c.619C>T	c.(619-621)Ctc>Ttc	p.L207F		NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	207							zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			CGTGCAGTACCTCATCAGCGC	0.612000											OREG0025298	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	19					0	0	0.000602214	0	0
ASNS	440	broad.mit.edu	37	7	97498267	97498267	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:97498267G>A	ENST00000175506.4	-	4	730	c.202C>T	c.(202-204)Ccg>Tcg	p.P68S	ASNS_ENST00000394308.3_Missense_Mutation_p.P68S|ASNS_ENST00000394309.3_Missense_Mutation_p.P68S|ASNS_ENST00000455086.1_Intron|ASNS_ENST00000444334.1_Missense_Mutation_p.P47S|ASNS_ENST00000422745.1_Missense_Mutation_p.P47S|ASNS_ENST00000437628.1_Intron	NM_183356.3	NP_899199.2	P08243	ASNS_HUMAN	asparagine synthetase (glutamine-hydrolyzing)	68	Glutamine amidotransferase type-2.				cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	asparagine synthase (glutamine-hydrolyzing) activity|ATP binding			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CACAAATACGGATATTTCTTC	0.433000													8	96					0	0	0.000673444	0	0
PTCH2	8643	broad.mit.edu	37	1	45293593	45293593	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:45293593G>A	ENST00000447098.2	-	14	1991	c.1980C>T	c.(1978-1980)tcC>tcT	p.S660S	PTCH2_ENST00000372192.3_Silent_p.S660S	NM_001166292.1	NP_001159764.1	Q9Y6C5	PTC2_HUMAN	patched 2	660					protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					CACAGGGCAGGGACTTGCAGG	0.612000									Basal Cell Nevus syndrome				8	42					0	0	0.000978159	0	0
GATAD2B	57459	broad.mit.edu	37	1	153791327	153791327	+	Silent	SNP	T	T	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:153791327T>G	ENST00000368655.4	-	4	780	c.537A>C	c.(535-537)cgA>cgC	p.R179R		NM_020699.2	NP_065750.1	Q8WXI9	P66B_HUMAN	GATA zinc finger domain containing 2B	179	CR1.					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			ACAGGACCAGTCGGGCTTCTT	0.473000													26	68					0	0	0.00395357	0	0
DICER1	23405	broad.mit.edu	37	14	95577700	95577700	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:95577700G>A	ENST00000526495.1	-	16	2501	c.2210C>T	c.(2209-2211)cCa>cTa	p.P737L	DICER1_ENST00000393063.1_Missense_Mutation_p.P737L|DICER1_ENST00000541352.1_Missense_Mutation_p.P737L|DICER1_ENST00000527414.1_Missense_Mutation_p.P737L|DICER1_ENST00000343455.3_Missense_Mutation_p.P737L			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	737					negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		TGGTCTTCCTGGAACACTGGT	0.428000			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				31	84					0	0	0.00428921	0	0
ZNF761	388561	broad.mit.edu	37	19	53958609	53958609	+	RNA	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:53958609C>T	ENST00000454407.1	+	0	1301							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		AGTCAGACGTCATCCCTTACA	0.408000													13	83					0	0	0.00244969	0	0
STAR	6770	broad.mit.edu	37	8	38005787	38005787	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:38005787C>T	ENST00000276449.4	-	3	683	c.237G>A	c.(235-237)ggG>ggA	p.G79G		NM_000349.2	NP_000340.2	P49675	STAR_HUMAN	steroidogenic acute regulatory protein	79	START.				C21-steroid hormone biosynthetic process	mitochondrial intermembrane space	cholesterol transporter activity			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11	Colorectal(12;0.000442)	all_lung(54;0.0151)|Lung NSC(58;0.0295)		READ - Rectum adenocarcinoma(644;0.188)		TGGCCTCCTCCCCCTGCTGGA	0.572000													5	17					0	0	0.00198382	0	0
DNAH5	1767	broad.mit.edu	37	5	13901506	13901506	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:13901506C>A	ENST00000265104.4	-	14	2011	c.1907G>T	c.(1906-1908)aGg>aTg	p.R636M		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	636	Stem (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)					CTGCTGAATCCTATGGAAGAG	0.512000									Kartagener syndrome				5	23					1.23904e-05	3.5966e-05	0.000602214	1	0
DPM1	8813	broad.mit.edu	37	20	49551729	49551729	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:49551729C>T	ENST00000371582.4	-	10	835	c.804G>A	c.(802-804)ttG>ttA	p.L268L	DPM1_ENST00000371583.5_Silent_p.L236L|DPM1_ENST00000466152.1_5'UTR|RP5-914P20.5_ENST00000558899.2_RNA|DPM1_ENST00000371588.5_Silent_p.L241L			O60762	DPM1_HUMAN	dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit	241					C-terminal protein lipidation|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|protein N-linked glycosylation via asparagine|protein O-linked mannosylation	dolichol-phosphate-mannose synthase complex|endoplasmic reticulum membrane|membrane fraction	dolichyl-phosphate beta-D-mannosyltransferase activity|dolichyl-phosphate-mannose-protein mannosyltransferase activity|protein binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	7						CATTTCCTCCCAACTTGGATT	0.303000													45	182					0	0	0.00361006	0	0
IFT140	9742	broad.mit.edu	37	16	1574818	1574818	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:1574818G>A	ENST00000426508.2	-	23	3327	c.2964C>T	c.(2962-2964)gtC>gtT	p.V988V	IFT140_ENST00000361339.5_Silent_p.V182V	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140 homolog (Chlamydomonas)	988										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)				AGTGGATGCGGACCAGGGAGA	0.672000													7	28					0	0	0.00136819	0	0
LY6G6D	58530	broad.mit.edu	37	6	31677949	31677949	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:31677949C>T	ENST00000503322.1	+	4	796	c.793C>T	c.(793-795)Cca>Tca	p.P265S	LY6G6F_ENST00000556581.1_Missense_Mutation_p.P265S|LY6G6F_ENST00000375832.4_Missense_Mutation_p.P265S|XXbac-BPG32J3.20_ENST00000461287.1_Intron																							CCGTGGGGCTCCAGGCAGAGG	0.637000													20	179					0	0	0.000958276	0	0
CCSER1	401145	broad.mit.edu	37	4	91230231	91230231	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:91230231G>A	ENST00000509176.1	+	2	1084	c.796G>A	c.(796-798)Gat>Aat	p.D266N	CCSER1_ENST00000333691.8_Missense_Mutation_p.D266N|CCSER1_ENST00000432775.2_Missense_Mutation_p.D266N	NM_001145065.1	NP_001138537.1			coiled-coil serine-rich protein 1																		CTTGACTGAAGATTCTGTGTC	0.438000													33	84					0	0	0.0024448	0	0
ITIH5	80760	broad.mit.edu	37	10	7682777	7682777	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:7682777C>T	ENST00000256861.6	-	4	419	c.341G>A	c.(340-342)aGa>aAa	p.R114K	ITIH5_ENST00000397146.2_Missense_Mutation_p.R114K|ITIH5_ENST00000397145.2_Missense_Mutation_p.R114K|ITIH5_ENST00000446830.2_5'UTR	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	114	VIT.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						CTTCTTTTCTCTCTCTGTAAT	0.373000													37	67					0	0	0.00321405	0	0
OR8U1	219417	broad.mit.edu	37	11	56143323	56143323	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:56143323C>T	ENST00000302270.1	+	1	224	c.224C>T	c.(223-225)tCt>tTt	p.S75F		NM_001005204.1	NP_001005204.1			olfactory receptor, family 8, subfamily U, member 1											NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1)	39	Esophageal squamous(21;0.00448)					TGTTACTCTTCTGTCATTACA	0.393000													20	56					0	0	0.00152264	0	0
L1CAM	3897	broad.mit.edu	37	X	153135267	153135267	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:153135267G>A	ENST00000370060.1	-	10	1303	c.1114C>T	c.(1114-1116)Cct>Tct	p.P372S	L1CAM_ENST00000361699.4_Missense_Mutation_p.P372S|L1CAM_ENST00000361981.3_Missense_Mutation_p.P367S|L1CAM_ENST00000543994.1_Missense_Mutation_p.P374S|L1CAM_ENST00000370055.1_Missense_Mutation_p.P367S|L1CAM_ENST00000538883.1_Missense_Mutation_p.P374S|L1CAM_ENST00000370057.3_Missense_Mutation_p.P372S	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	372	Ig-like C2-type 4.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCCTCCACAGGGATCCCGTTG	0.662000													4	10					0	0	0.000602214	0	0
OPN5	221391	broad.mit.edu	37	6	47776108	47776108	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:47776108G>A	ENST00000489301.2	+	5	1060	c.975G>A	c.(973-975)aaG>aaA	p.K325K	OPN5_ENST00000371211.2_Silent_p.K325K|OPN5_ENST00000244799.4_3'UTR|OPN5_ENST00000393699.2_Silent_p.K325K			Q6U736	OPN5_HUMAN	opsin 5	325					phototransduction|protein-chromophore linkage|visual perception	integral to membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						AAGCAACCAAGAAGAAGTCTC	0.413000													13	92					0	0	0.00244969	0	0
SNHG14	104472715	broad.mit.edu	37	15	25455073	25455073	+	RNA	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:25455073G>A	ENST00000424208.1	+	0	2384				SNHG14_ENST00000450809.1_RNA|SNHG14_ENST00000424333.1_RNA|SNORD115-22_ENST00000364456.1_RNA	NR_003305.1																						TTGGGTCAATGATGAGAACCT	0.512000													18	160					0	0	0.00188189	0	0
CCKAR	886	broad.mit.edu	37	4	26491783	26491783	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:26491783G>A	ENST00000295589.3	-	1	301	c.107C>T	c.(106-108)tCc>tTc	p.S36F		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	36					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	CTTACCTTTGGAAGGACGGGG	0.438000													8	24					0	0	0.000673444	0	0
LPHN2	23266	broad.mit.edu	37	1	82372750	82372750	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:82372750C>T	ENST00000370728.1	+	6	767	c.122C>T	c.(121-123)tCc>tTc	p.S41F	LPHN2_ENST00000370715.1_Missense_Mutation_p.S41F|LPHN2_ENST00000469377.2_3'UTR|LPHN2_ENST00000370713.1_Missense_Mutation_p.S41F|LPHN2_ENST00000394879.1_Missense_Mutation_p.S41F|LPHN2_ENST00000319517.6_Missense_Mutation_p.S41F|LPHN2_ENST00000370721.1_Missense_Mutation_p.S41F|LPHN2_ENST00000370717.2_Missense_Mutation_p.S41F|LPHN2_ENST00000370727.1_Missense_Mutation_p.S41F|LPHN2_ENST00000370730.1_Missense_Mutation_p.S41F|LPHN2_ENST00000359929.3_Missense_Mutation_p.S41F|LPHN2_ENST00000370723.1_Missense_Mutation_p.S41F|LPHN2_ENST00000370725.1_Missense_Mutation_p.S41F|LPHN2_ENST00000335786.5_Missense_Mutation_p.S41F|LPHN2_ENST00000271029.4_Missense_Mutation_p.S41F			O95490	LPHN2_HUMAN	latrophilin 2	41	SUEL-type lectin.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		CGAGAATTATCCTGTGAAGGT	0.393000													12	31					0	0	0.00136819	0	0
DNAH2	146754	broad.mit.edu	37	17	7691218	7691218	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:7691218C>T	ENST00000572933.1	+	43	8104	c.6644C>T	c.(6643-6645)tCt>tTt	p.S2215F	DNAH2_ENST00000389173.2_Missense_Mutation_p.S2215F			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2215	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GCAATGGCCTCTCCGGCCACT	0.527000													8	44					0	0	0.000442599	0	0
ABCC11	85320	broad.mit.edu	37	16	48245042	48245042	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:48245042G>A	ENST00000394747.1	-	10	1774	c.1425C>T	c.(1423-1425)gtC>gtT	p.V475V	ABCC11_ENST00000394748.1_Silent_p.V475V|ABCC11_ENST00000356608.2_Silent_p.V475V|ABCC11_ENST00000353782.5_Silent_p.V475V|ABCC11_ENST00000537808.1_Silent_p.V475V	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	475						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)				CCTCCTCAAAGACCAGAGCTT	0.522000													22	66					0	0	0.00332997	0	0
VWA2	340706	broad.mit.edu	37	10	116038530	116038530	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:116038530G>A	ENST00000603594.1	+	8	1074	c.753G>A	c.(751-753)cgG>cgA	p.R251R	VWA2_ENST00000392982.3_Silent_p.R251R	NM_001272046.1	NP_001258975.1	Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	251						extracellular region				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		AGATGGTCCGGGAGTTCGCTG	0.637000													9	28					0	0	0.000274275	0	0
ZEB1	6935	broad.mit.edu	37	10	31810846	31810846	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:31810846C>T	ENST00000446923.2	+	7	2926	c.2535C>T	c.(2533-2535)atC>atT	p.I845I	ZEB1_ENST00000542815.3_Silent_p.I794I|ZEB1_ENST00000320985.10_Silent_p.I861I|ZEB1_ENST00000560721.2_Silent_p.I841I|ZEB1_ENST00000361642.5_Silent_p.I862I|ZEB1_ENST00000559858.1_3'UTR	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	861					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				TGAAAGTGATCCAGCCAAATG	0.418000													5	13					0	0	0.000602214	0	0
UBAP2L	9898	broad.mit.edu	37	1	154218811	154218811	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:154218811C>T	ENST00000428931.1	+	11	1141	c.974C>T	c.(973-975)tCa>tTa	p.S325L	UBAP2L_ENST00000271877.7_Missense_Mutation_p.S336L|UBAP2L_ENST00000361546.2_Missense_Mutation_p.S325L|UBAP2L_ENST00000343815.6_Missense_Mutation_p.S325L	NM_014847.3	NP_055662.3	Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	325					binding of sperm to zona pellucida		protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			ACTGCCATATCACAGCCTGCT	0.458000													14	111					0	0	0.000566183	0	0
OR51S1	119692	broad.mit.edu	37	11	4869932	4869932	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:4869932G>A	ENST00000322101.2	-	1	582	c.507C>T	c.(505-507)ttC>ttT	p.F169F	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	169					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F169L(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGGCCAGCAGGAATGGCAGGG	0.552000													27	32					0	0	0.0024448	0	0
DOCK5	80005	broad.mit.edu	37	8	25246714	25246714	+	Silent	SNP	T	T	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:25246714T>G	ENST00000276440.7	+	41	4283	c.4239T>G	c.(4237-4239)ccT>ccG	p.P1413P		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1413	DHR-2.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		GTACCACGCCTCCTGGGGAAG	0.567000													6	28					0	0	0.00198382	0	0
HHIPL2	79802	broad.mit.edu	37	1	222696219	222696219	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:222696219C>T	ENST00000343410.6	-	9	1957	c.1899G>A	c.(1897-1899)ttG>ttA	p.L633L	HHIPL2_ENST00000473144.1_5'UTR	NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	633					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		TTAGCAAGTCCAAGACTGTCT	0.383000													26	145					0	0	0.00106085	0	0
SYCP2L	221711	broad.mit.edu	37	6	10931690	10931690	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:10931690C>T	ENST00000283141.6	+	20	1947	c.1651C>T	c.(1651-1653)Ccc>Tcc	p.P551S		NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	551						nucleus				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			AGTTTTCCCTCCCAGTAGTGG	0.398000													9	122					0	0	0.000978159	0	0
GRIN2A	2903	broad.mit.edu	37	16	9858202	9858202	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:9858202G>A	ENST00000396573.2	-	14	3508	c.3199C>T	c.(3199-3201)Cgg>Tgg	p.R1067W	GRIN2A_ENST00000404927.2_Missense_Mutation_p.R1067W|GRIN2A_ENST00000396575.2_Missense_Mutation_p.R1067W|GRIN2A_ENST00000535259.1_Missense_Mutation_p.R910W|GRIN2A_ENST00000330684.3_Missense_Mutation_p.R1067W|GRIN2A_ENST00000562109.1_Missense_Mutation_p.R1067W	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1067					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	p.R1067W(1)		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)	CACGTGGCCCGATTTGACGTT	0.498000													21	43					0	0	0.00395357	0	0
CNTNAP3	79937	broad.mit.edu	37	9	39085744	39085744	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:39085744C>T	ENST00000297668.6	-	21	3504	c.3431G>A	c.(3430-3432)gGa>gAa	p.G1144E	CNTNAP3_ENST00000377656.2_Missense_Mutation_p.G1063E|CNTNAP3_ENST00000358144.2_3'UTR	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	1144	Laminin G-like 4.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TAAAACCTTTCCCAATATGAG	0.408000													29	76					0	0	0.001512	0	0
F5	2153	broad.mit.edu	37	1	169512207	169512207	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:169512207C>T	ENST00000367796.3	-	13	2337	c.2136G>A	c.(2134-2136)cgG>cgA	p.R712R	F5_ENST00000367797.3_Silent_p.R707R			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	707	B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	CATGCATTTTCCGTGTAGCCA	0.418000													29	127					0	0	0.00327116	0	0
KCNH1	3756	broad.mit.edu	37	1	211093130	211093130	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:211093130C>T	ENST00000367007.4	-	7	1402	c.1233G>A	c.(1231-1233)ggG>ggA	p.G411G	KCNH1_ENST00000271751.4_Silent_p.G438G	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	438					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		CTTCCCACTTCCCTGAGCCAG	0.517000													6	38					0	0	0.00116845	0	0
PHF21B	112885	broad.mit.edu	37	22	45312175	45312175	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr22:45312175G>A	ENST00000313237.5	-	4	699	c.549C>T	c.(547-549)atC>atT	p.I183I	PHF21B_ENST00000403565.1_Silent_p.I21I|PHF21B_ENST00000404079.2_Silent_p.I171I|PHF21B_ENST00000447824.3_Silent_p.I171I|PHF21B_ENST00000396103.3_Silent_p.I183I	NM_138415.4	NP_612424.1	Q96EK2	PF21B_HUMAN	PHD finger protein 21B	183							zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		TGTCAGCACTGATGAGGAGGG	0.612000													11	22					0	0	0.00185496	0	0
SLC26A1	10861	broad.mit.edu	37	4	985058	985058	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:985058C>T	ENST00000361661.2	-	3	811	c.434G>A	c.(433-435)gGc>gAc	p.G145D	SLC26A1_ENST00000398516.2_Missense_Mutation_p.G145D|SLC26A1_ENST00000398520.2_Missense_Mutation_p.G145D|IDUA_ENST00000453894.1_Intron|IDUA_ENST00000247933.4_Intron	NM_213613.2	NP_998778.1	Q9H2B4	S26A1_HUMAN	solute carrier family 26 (anion exchanger), member 1	145						integral to membrane|plasma membrane	secondary active sulfate transmembrane transporter activity			central_nervous_system(1)|endometrium(4)|pancreas(1)|prostate(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GGGGTCAAAGCCGGCCAGCTG	0.662000													5	14					0	0	0.000602214	0	0
PCDHA4	56144	broad.mit.edu	37	5	140188444	140188444	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:140188444G>A	ENST00000530339.1	+	1	1672	c.1672G>A	c.(1672-1674)Gaa>Aaa	p.E558K	PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.E558K|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.E558K|PCDHA2_ENST00000526136.1_Intron	NM_018907.2	NP_061730.1														breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGCTGGACGAAAACGACAA	0.667000													32	27					0	0	0.000953801	0	0
CWF19L2	143884	broad.mit.edu	37	11	107299650	107299650	+	Silent	SNP	C	C	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:107299650C>G	ENST00000282251.5	-	8	1335	c.1308G>C	c.(1306-1308)tcG>tcC	p.S436S	CWF19L2_ENST00000433523.1_Silent_p.S436S	NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	436							catalytic activity			endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		TACTGGTTTCCGATGGCTTTT	0.408000													27	108					0	0	0.001512	0	0
C2CD2	25966	broad.mit.edu	37	21	43325844	43325844	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr21:43325844G>A	ENST00000380486.3	-	11	1662	c.1421C>T	c.(1420-1422)tCt>tTt	p.S474F	C2CD2_ENST00000329623.7_Missense_Mutation_p.S319F	NM_015500.1	NP_056315.1	Q9Y426	CU025_HUMAN	C2 calcium-dependent domain containing 2	474						cytosol|extracellular region|nucleus				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						TGTGTCTGAAGAAGAGAGTGT	0.527000													8	26					0	0	0.000274275	0	0
TENM4	26011	broad.mit.edu	37	11	78440676	78440676	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:78440676C>T	ENST00000278550.7	-	22	3613	c.3151G>A	c.(3151-3153)Gaa>Aaa	p.E1051K		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		ATAGAGATTTCCTCCTGCAAA	0.582000													14	40					0	0	0.000566183	0	0
CUL9	23113	broad.mit.edu	37	6	43188298	43188298	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:43188298C>T	ENST00000252050.4	+	32	6468	c.6384C>T	c.(6382-6384)ttC>ttT	p.F2128F	RP3-330M21.5_ENST00000500590.1_RNA|CUL9_ENST00000372647.2_Silent_p.F2100F|CUL9_ENST00000354495.3_Silent_p.F2018F	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	2128					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						CCGGAGCCTTCATTCGTGCCA	0.587000													27	159					0	0	0.00127121	0	0
ZDBF2	57683	broad.mit.edu	37	2	207171302	207171302	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:207171302G>A	ENST00000374423.3	+	5	2436	c.2050G>A	c.(2050-2052)Gaa>Aaa	p.E684K		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	684							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TCAAGTAGCCGAAATAGAGCG	0.443000													5	22					0	0	0.000602214	0	0
ANO2	57101	broad.mit.edu	37	12	5708775	5708775	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:5708775C>T	ENST00000356134.5	-	22	2182	c.2111G>A	c.(2110-2112)cGa>cAa	p.R704Q	ANO2_ENST00000546188.1_Missense_Mutation_p.R704Q|ANO2_ENST00000327087.8_Missense_Mutation_p.R703Q	NM_001278596.1|NM_001278597.1	NP_001265525.1|NP_001265526.1	Q9NQ90	ANO2_HUMAN	anoctamin 2	708						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						TTTCAGCTTTCGAAATAGTTT	0.423000													9	29					0	0	0.000274275	0	0
JAKMIP2	9832	broad.mit.edu	37	5	147024484	147024484	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:147024484C>T	ENST00000265272.5	-	6	1479	c.1012G>A	c.(1012-1014)Gat>Aat	p.D338N	JAKMIP2_ENST00000507386.1_Missense_Mutation_p.D338N|JAKMIP2_ENST00000333010.6_Missense_Mutation_p.D296N	NM_014790.3	NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	338						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCAGTTCATCGTTTCTCTTG	0.433000													19	55					0	0	0.00188189	0	0
CPAMD8	27151	broad.mit.edu	37	19	17104366	17104366	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:17104366C>T	ENST00000443236.1	-	12	1298	c.1267G>A	c.(1267-1269)Gct>Act	p.A423T	CPAMD8_ENST00000388925.4_Missense_Mutation_p.A376T	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	376						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						ACCCCCTCAGCTGGGCTGCCA	0.517000													4	20					0	0	0.00116845	0	0
OR2H1	26716	broad.mit.edu	37	6	29430158	29430158	+	Silent	SNP	C	C	T	rs144363872	byFrequency	TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:29430158C>T	ENST00000377136.1	+	4	1077	c.612C>T	c.(610-612)ttC>ttT	p.F204F	OR2H1_ENST00000473369.1_3'UTR|OR2H1_ENST00000442615.1_Silent_p.F204F|OR2H1_ENST00000377132.1_Silent_p.F204F|OR2H1_ENST00000396792.2_Silent_p.F204F|OR2H1_ENST00000377133.1_Silent_p.F204F			Q9GZK4	OR2H1_HUMAN	olfactory receptor, family 2, subfamily H, member 1	204					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(12)	17						GTGTCATCTTCGTGGTTGTGC	0.502000													21	128					0	0	0.00278032	0	0
XIRP2	129446	broad.mit.edu	37	2	168105475	168105475	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:168105475C>T	ENST00000409195.1	+	9	7662	c.7573C>T	c.(7573-7575)Cca>Tca	p.P2525S	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.P2303S|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.P2525S|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2350					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TCATTCATTTCCAGAGAGTTC	0.343000													13	74					0	0	0.00185496	0	0
MAP6	4135	broad.mit.edu	37	11	75298370	75298370	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:75298370C>T	ENST00000304771.3	-	4	2926	c.2176G>A	c.(2176-2178)Gat>Aat	p.D726N	MAP6_ENST00000526740.1_Missense_Mutation_p.D397N|CTD-2530H12.4_ENST00000527803.1_RNA	NM_033063.1	NP_149052.1	Q96JE9	MAP6_HUMAN	microtubule-associated protein 6	726	Pro-rich.					Golgi apparatus|microtubule|perinuclear region of cytoplasm	calmodulin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19	Ovarian(111;0.11)					GGGCCTTGATCCTTAACTAGT	0.498000													21	94					0	0	0.00188189	0	0
DLGAP3	58512	broad.mit.edu	37	1	35351752	35351752	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:35351752G>A	ENST00000373347.1	-	6	1789	c.1521C>T	c.(1519-1521)atC>atT	p.I507I	DLGAP3_ENST00000235180.4_Silent_p.I507I			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	507					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane		p.I507I(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				AGCCGGCCTGGATGGCCCGGA	0.692000													4	11					0	0	0.000602214	0	0
CCDC138	165055	broad.mit.edu	37	2	109463278	109463278	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:109463278C>T	ENST00000295124.4	+	12	1468	c.1408C>T	c.(1408-1410)Cca>Tca	p.P470S	CCDC138_ENST00000412964.2_Missense_Mutation_p.P470S	NM_144978.1	NP_659415.1	Q96M89	CC138_HUMAN	coiled-coil domain containing 138	470										endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	14						GGATAATTCTCCACAGCATTC	0.353000													25	44					0	0	0.00395357	0	0
ANKRD35	148741	broad.mit.edu	37	1	145561741	145561741	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:145561741G>A	ENST00000355594.4	+	10	1516	c.1429G>A	c.(1429-1431)Ggc>Agc	p.G477S		NM_144698.3	NP_653299.3	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	477										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TGAACCAGGAGGCACAGTGGC	0.572000													13	53					0	0	0.00244969	0	0
ERMARD	55780	broad.mit.edu	37	6	170160786	170160786	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:170160786C>T	ENST00000588451.1	+	8	926	c.413C>T	c.(412-414)tCt>tTt	p.S138F	C6orf70_ENST00000418781.3_Missense_Mutation_p.S264F|C6orf70_ENST00000366773.3_Missense_Mutation_p.S264F|C6orf70_ENST00000366772.2_Missense_Mutation_p.S264F|C6orf70_ENST00000392095.4_Missense_Mutation_p.S138F			Q5T6L9	CF070_HUMAN		264						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(1)	20		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.2e-22)|BRCA - Breast invasive adenocarcinoma(81;1.49e-07)|GBM - Glioblastoma multiforme(31;0.00191)		ATGATGAAATCTGCTTTTATA	0.348000													10	21					0	0	0.00185496	0	0
PTPRA	5786	broad.mit.edu	37	20	3002824	3002824	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:3002824C>T	ENST00000216877.6	+	14	1659	c.1259C>T	c.(1258-1260)gCc>gTc	p.A420V	PTPRA_ENST00000380393.3_Missense_Mutation_p.A429V|PTPRA_ENST00000399903.2_Missense_Mutation_p.A429V|PTPRA_ENST00000358719.4_Missense_Mutation_p.A285V|PTPRA_ENST00000425918.2_Missense_Mutation_p.A440V|PTPRA_ENST00000356147.3_Missense_Mutation_p.A420V|PTPRA_ENST00000318266.5_Missense_Mutation_p.A420V	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	429	Tyrosine-protein phosphatase 1.				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						AAGGTGAAGGCCTGTAACCCT	0.592000													12	53					0	0	0.00316338	0	0
ZNF223	7766	broad.mit.edu	37	19	44570592	44570592	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:44570592T>G	ENST00000591793.1	+	7	1024	c.941T>G	c.(940-942)tTt>tGt	p.F314C	ZNF223_ENST00000434772.3_Missense_Mutation_p.F204C			Q9UK11	ZN223_HUMAN	zinc finger protein 223	204				GKKPNSTGEYGK -> AEKLYKSEKYGR (in Ref. 1; AAF04105).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18		Prostate(69;0.0352)				GAGAAACTCTTTAAGTGTGAC	0.423000													5	90					0	0	0.000602214	0	0
THPO	7066	broad.mit.edu	37	3	184090440	184090440	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:184090440G>A	ENST00000204615.7	-	6	1137	c.923C>T	c.(922-924)cCt>cTt	p.P308L	EIF2B5_ENST00000444495.1_Intron|THPO_ENST00000445696.2_Missense_Mutation_p.P304L|THPO_ENST00000421442.2_Silent_p.P269P	NM_000460.2|NM_001177597.1|NM_001177598.1	NP_000451.1|NP_001171068.1|NP_001171069.1	P40225	TPO_HUMAN	thrombopoietin	308	Pro-rich.				cell proliferation|platelet activation	extracellular space	cytokine activity|growth factor activity|hormone activity			NS(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGGTGGAAGAGGGAAGAGCGT	0.592000													13	49					0	0	0.00244969	0	0
KIR2DL1	3802	broad.mit.edu	37	19	55285018	55285018	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:55285018G>A	ENST00000336077.6	+	3	344	c.304G>A	c.(304-306)Ggt>Agt	p.G102S	KIR2DL4_ENST00000396284.2_Intron|KIR2DL1_ENST00000291633.7_Missense_Mutation_p.G102S|KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000402254.2_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL3_ENST00000434419.2_Intron	NM_014218.2	NP_055033.2	P43626	KI2L1_HUMAN	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1	102	Ig-like C2-type 1.				immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		CAGATGCTACGGTTCTGTTAC	0.522000													25	108					0	0	0.00106085	0	0
MRC2	9902	broad.mit.edu	37	17	60741973	60741973	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:60741973G>A	ENST00000303375.5	+	2	585	c.183G>A	c.(181-183)caG>caA	p.Q61Q		NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	61	Ricin B-type lectin.				endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						AGGGCGGGCAGGTCAGAGTCA	0.622000													5	36					0	0	0.000602214	0	0
BICC1	80114	broad.mit.edu	37	10	60549031	60549031	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:60549031C>T	ENST00000373886.3	+	7	614	c.610C>T	c.(610-612)Cct>Tct	p.P204S		NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	bicaudal C homolog 1 (Drosophila)	204					multicellular organismal development		RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						GGAGCTGCTTCCTTTGGTGCT	0.383000													9	34					0	0	0.000442599	0	0
OOSP2	219990	broad.mit.edu	37	11	59814515	59814515	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:59814515G>A	ENST00000278855.2	+	4	631	c.446G>A	c.(445-447)gGa>gAa	p.G149E		NM_173801.3	NP_776162.2	Q86WS3	PLACL_HUMAN		149						extracellular region				breast(1)|lung(9)|ovary(2)|prostate(2)|skin(1)	15						GAAGAGTTAGGATTATTATCT	0.358000													12	66					0	0	0.00136819	0	0
MYO1F	4542	broad.mit.edu	37	19	8616642	8616642	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:8616642G>A	ENST00000338257.8	-	8	1020	c.753C>T	c.(751-753)agC>agT	p.S251S		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	251	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						CACCAAAGTCGCTTCTGTCGT	0.577000													7	31					0	0	0.00198382	0	0
ZNF318	24149	broad.mit.edu	37	6	43309940	43309940	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:43309940G>A	ENST00000361428.2	-	8	3363	c.3286C>T	c.(3286-3288)Ccc>Tcc	p.P1096S	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1096					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CTGTTGTAGGGATCCAGTGTC	0.458000													13	75					0	0	0.00400662	0	0
SLC6A16	28968	broad.mit.edu	37	19	49793384	49793384	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:49793384G>A	ENST00000335875.4	-	12	2448	c.2207C>T	c.(2206-2208)tCc>tTc	p.S736F	SLC6A16_ENST00000454748.3_3'UTR	NM_014037.2	NP_054756.2	Q9GZN6	S6A16_HUMAN	solute carrier family 6, member 16	736						integral to membrane|intracellular	neurotransmitter:sodium symporter activity			NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)		ATGAAGTTAGGAAGTCACATT	0.388000													14	53					0	0	0.00244969	0	0
SCUBE2	57758	broad.mit.edu	37	11	9080872	9080872	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:9080872T>G	ENST00000457346.2	-	9	1142	c.1068A>C	c.(1066-1068)ttA>ttC	p.L356F	RP11-467K18.2_ENST00000521394.2_RNA|SCUBE2_ENST00000450649.2_Missense_Mutation_p.L356F|SCUBE2_ENST00000309263.3_Missense_Mutation_p.L356F|SCUBE2_ENST00000520467.1_Missense_Mutation_p.L356F			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	356	EGF-like 7; calcium-binding (Potential).					extracellular region	calcium ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		TCTCATCTGTTAATAATTTAA	0.473000													10	39					0	0	0.00185496	0	0
GPR111	222611	broad.mit.edu	37	6	47650089	47650089	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:47650089G>A	ENST00000398742.2	+	5	1639	c.1590G>A	c.(1588-1590)tgG>tgA	p.W530*	GPR111_ENST00000507065.1_Nonsense_Mutation_p.W530*|GPR111_ENST00000296862.1_Nonsense_Mutation_p.W598*			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	598					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						GGCTCAACTGGGACATGACCA	0.547000													16	19					0	0	0.000566183	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107459924	107459924	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:107459924C>T	ENST00000409382.3	-	2	1120	c.510G>A	c.(508-510)agG>agA	p.R170R	ST6GAL2_ENST00000361686.4_Silent_p.R170R|ST6GAL2_ENST00000409087.3_Silent_p.R170R	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	170					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						TCACCCGCCTCCTCTGGACCT	0.667000													6	51					0	0	0.00198382	0	0
OR10J1	26476	broad.mit.edu	37	1	159409836	159409836	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:159409836C>T	ENST00000423932.3	+	1	325	c.288C>T	c.(286-288)ctC>ctT	p.L96L	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	96					sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					TCTCCAGCCTCGTAGGTATGA	0.468000													14	25					0	0	0.00185496	0	0
ZNF556	80032	broad.mit.edu	37	19	2876090	2876090	+	Splice_Site	SNP	G	G	A	rs144545156	byFrequency	TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:2876090G>A	ENST00000586426.1	+	3	217		c.e3-1		ZNF556_ENST00000307635.2_Splice_Site			Q9HAH1	ZN556_HUMAN	zinc finger protein 556						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				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)		TTTTGTTTCAGATAATGAGGC	0.338000													40	209					0	0	0.00361006	0	0
KIAA2022	340533	broad.mit.edu	37	X	73963788	73963788	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:73963788C>T	ENST00000373468.1	-	3	1255	c.604G>A	c.(604-606)Gac>Aac	p.D202N	KIAA2022_ENST00000055682.5_Missense_Mutation_p.D202N			Q5QGS0	K2022_HUMAN	KIAA2022	202					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						AGGAGCTGGTCTGAGAGCAGC	0.453000													10	18					0	0	0.000442599	0	0
TAS2R60	338398	broad.mit.edu	37	7	143141184	143141184	+	Missense_Mutation	SNP	G	G	A	rs141559059		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:143141184G>A	ENST00000332690.1	+	1	639	c.639G>A	c.(637-639)atG>atA	p.M213I	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	213					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity	p.M213I(2)		breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					TCATTTGCATGATTTTGCTCA	0.463000													74	50					0	0	0.00361006	0	0
PCDHB7	56129	broad.mit.edu	37	5	140553676	140553676	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:140553676C>T	ENST00000231137.3	+	1	1434	c.1260C>T	c.(1258-1260)acC>acT	p.T420T		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		420	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACAACATCACCATCACCGTCA	0.512000													6	46					0	0	0.00116845	0	0
DDO	8528	broad.mit.edu	37	6	110714134	110714134	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:110714134G>A	ENST00000368924.3	-	5	969	c.954C>T	c.(952-954)ctC>ctT	p.L318L	DDO_ENST00000368925.1_Silent_p.L290L|DDO_ENST00000368923.3_Silent_p.L259L	NM_003649.2	NP_003640.2	Q99489	OXDD_HUMAN	D-aspartate oxidase	290					aspartate catabolic process	peroxisome	binding|D-amino-acid oxidase activity|D-aspartate oxidase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|pancreas(1)|skin(3)	24		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)		all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046)		CTCGCGCAAGGAGCTCTGTCT	0.647000													10	32					0	0	0.00136819	0	0
C1orf168	199920	broad.mit.edu	37	1	57257960	57257960	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:57257960C>T	ENST00000343433.6	-	2	606	c.526G>A	c.(526-528)Ggg>Agg	p.G176R	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	176										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						GGAGTAAGCCCCATGCCTTTT	0.488000													6	44					0	0	0.00198382	0	0
CRAT	1384	broad.mit.edu	37	9	131860836	131860836	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:131860836G>A	ENST00000318080.2	-	9	1473	c.1179C>T	c.(1177-1179)atC>atT	p.I393I	RP11-247A12.1_ENST00000434250.1_RNA	NM_000755.3|NM_001257363.1	NP_000746.2|NP_001244292.1	P43155	CACP_HUMAN	carnitine O-acetyltransferase	393					energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport	endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix	carnitine O-acetyltransferase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	TGGCCTTCTCGATGTCGCTCT	0.617000													23	52					0	0	0.000878237	0	0
MKI67	4288	broad.mit.edu	37	10	129902337	129902337	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:129902337G>A	ENST00000368654.3	-	13	8142	c.7767C>T	c.(7765-7767)ccC>ccT	p.P2589P	MKI67_ENST00000368653.3_Silent_p.P2229P	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2589	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GTTCTGGTGGGGGAGATTTGC	0.473000													29	47					0	0	0.0024448	0	0
KCNB2	9312	broad.mit.edu	37	8	73848351	73848351	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:73848351C>T	ENST00000523207.1	+	3	1349	c.761C>T	c.(760-762)tCc>tTc	p.S254F		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	254					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			CGATTCTTATCCTCACCAAAT	0.448000													17	94					0	0	0.00400662	0	0
CEP44	80817	broad.mit.edu	37	4	175231094	175231094	+	Silent	SNP	T	T	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:175231094T>C	ENST00000503780.1	+	8	1186	c.772T>C	c.(772-774)Tta>Cta	p.L258L	CEP44_ENST00000426172.1_Silent_p.L258L|CEP44_ENST00000296519.4_Silent_p.L258L|CEP44_ENST00000457424.2_Silent_p.L258L	NM_001040157.2	NP_001035247.1	Q9C0F1	CEP44_HUMAN	centrosomal protein 44kDa	258						centrosome|midbody|spindle pole				endometrium(2)|large_intestine(4)|lung(5)|stomach(1)	12						AGAGAAAAGGTTAGACTGTTT	0.348000													9	31					0	0	0.000978159	0	0
MUC5B	727897	broad.mit.edu	37	11	1269647	1269647	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:1269647C>T	ENST00000447027.1	+	31	11604	c.11546C>T	c.(11545-11547)gCc>gTc	p.A3849V	MUC5B_ENST00000529681.1_Missense_Mutation_p.A3846V|RP11-532E4.2_ENST00000532061.2_RNA			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3846	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACAACCAGGGCCACCGGCTCT	0.637000													6	38					0	0	0.00198382	0	0
CPXM2	119587	broad.mit.edu	37	10	125539742	125539742	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:125539742C>T	ENST00000241305.3	-	7	1073	c.919G>A	c.(919-921)Gag>Aag	p.E307K	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	307					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		GTGGTCATCTCGTTCCGGCGG	0.438000													27	76					0	0	0.000720815	0	0
OR4N2	390429	broad.mit.edu	37	14	20295937	20295937	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:20295937G>A	ENST00000315947.1	+	1	330	c.330G>A	c.(328-330)ggG>ggA	p.G110G	OR4N2_ENST00000568211.1_Silent_p.G110G	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	110					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTGGAGGAGGGGAGGGATTAC	0.522000													16	30					0	0	0.00121646	0	0
ADAM19	8728	broad.mit.edu	37	5	156921748	156921748	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:156921748G>A	ENST00000257527.4	-	15	1728	c.1650C>T	c.(1648-1650)acC>acT	p.T550T	ADAM19_ENST00000517905.1_Silent_p.T550T|ADAM19_ENST00000430702.2_Silent_p.T283T|ADAM19_ENST00000394020.1_Silent_p.T552T	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	550	Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGTTTCCAAAGGTGTCTCCTG	0.507000													12	65					0	0	0.00244969	0	0
CCDC113	29070	broad.mit.edu	37	16	58292312	58292312	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:58292312C>T	ENST00000219299.4	+	4	510	c.431C>T	c.(430-432)tCg>tTg	p.S144L	CCDC113_ENST00000443128.2_Missense_Mutation_p.S90L	NM_014157.3	NP_054876.2	Q9H0I3	CC113_HUMAN	coiled-coil domain containing 113	144						protein complex				large_intestine(4)|lung(6)|ovary(1)|urinary_tract(1)	12						AGTGAAGTTTCGAGAGAAGTG	0.423000													29	46					0	0	0.00283554	0	0
FAM188B	84182	broad.mit.edu	37	7	30830930	30830930	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:30830930C>T	ENST00000265299.6	+	5	890	c.813C>T	c.(811-813)tcC>tcT	p.S271S	INMT-FAM188B_ENST00000458257.1_3'UTR	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	271										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCAGGACCTCCCTGGGTCAGC	0.607000													5	43					0	0	0.000602214	0	0
ADAM32	203102	broad.mit.edu	37	8	39044437	39044437	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:39044437G>A	ENST00000379907.4	+	11	1052	c.925G>A	c.(925-927)Gag>Aag	p.E309K	ADAM32_ENST00000519315.1_Intron|ADAM32_ENST00000437682.2_Intron	NM_145004.5	NP_659441.3	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	309	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)			GTACCCCAAGGAGATAACTCT	0.328000													24	83					0	0	0.00106085	0	0
ZNF606	80095	broad.mit.edu	37	19	58490297	58490297	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:58490297A>T	ENST00000341164.4	-	7	2371	c.1751T>A	c.(1750-1752)aTt>aAt	p.I584N	ZNF606_ENST00000536132.1_Missense_Mutation_p.I494N	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	584					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		CTGATGGGCAATAAGATGGGA	0.423000													10	43					0	0	0.000442599	0	0
MISP	126353	broad.mit.edu	37	19	763503	763503	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:763503C>T	ENST00000215582.6	+	5	2056	c.1953C>T	c.(1951-1953)gtC>gtT	p.V651V		NM_173481.2	NP_775752.1			mitotic spindle positioning																		TTTTGCAGGTCCTGGAAGCCA	0.582000													7	4					0	0	0.00198382	0	0
DDHD2	23259	broad.mit.edu	37	8	38109456	38109456	+	Silent	SNP	T	T	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:38109456T>A	ENST00000397166.2	+	12	1896	c.1371T>A	c.(1369-1371)ccT>ccA	p.P457P	DDHD2_ENST00000529845.1_5'UTR|DDHD2_ENST00000517385.1_Silent_p.P76P|DDHD2_ENST00000520272.2_Silent_p.P457P	NM_015214.2	NP_056029.2	O94830	DDHD2_HUMAN	DDHD domain containing 2	457					lipid catabolic process	centrosome	hydrolase activity|metal ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)			CCCCGCAGCCTGCTTCAGGGG	0.468000													8	60					0	0	0.00307968	0	0
ST18	9705	broad.mit.edu	37	8	53084937	53084937	+	Missense_Mutation	SNP	C	C	T	rs147121734	by1000genomes	TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:53084937C>T	ENST00000276480.7	-	10	1167	c.484G>A	c.(484-486)Gat>Aat	p.D162N		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	162						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TCTGCTTCATCGCTCTCTGCT	0.388000													20	115					0	0	0.00188189	0	0
PDE1A	5136	broad.mit.edu	37	2	183011871	183011871	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:183011871C>T	ENST00000435564.1	-	14	1773	c.1573G>A	c.(1573-1575)Gat>Aat	p.D525N	PDE1A_ENST00000331935.6_Missense_Mutation_p.D525N|PDE1A_ENST00000409365.1_Missense_Mutation_p.D509N|PDE1A_ENST00000536095.1_Missense_Mutation_p.D421N|PDE1A_ENST00000346717.4_Missense_Mutation_p.D491N	NM_001258312.1|NM_005019.4	NP_001245241.1|NP_005010.2	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	0					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			TTATGAAGATCAGATTCACCT	0.308000													9	59					0	0	0.000274275	0	0
ZNF594	84622	broad.mit.edu	37	17	5086142	5086142	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:5086142G>A	ENST00000399604.4	-	1	1550	c.1410C>T	c.(1408-1410)agC>agT	p.S470S	ZNF594_ENST00000575779.1_Silent_p.S470S			Q96JF6	ZN594_HUMAN	zinc finger protein 594	470					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						GTGACCTCTGGCTAAAGGCTT	0.468000													11	38					0	0	0.000978159	0	0
OR5T2	219464	broad.mit.edu	37	11	55999650	55999650	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:55999650C>T	ENST00000313264.4	-	1	1087	c.1012G>A	c.(1012-1014)Gac>Aac	p.D338N		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	338					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					TTCATTGAGTCTTTTACATCT	0.333000													14	45					0	0	0.00185496	0	0
KCNH8	131096	broad.mit.edu	37	3	19295352	19295352	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:19295352G>A	ENST00000328405.2	+	2	549	c.283G>A	c.(283-285)Gga>Aga	p.G95R		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	95	PAC.					integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						AGAATTCAAAGGAGAAATTAT	0.418000													9	39					0	0	0.000274275	0	0
MYO15A	51168	broad.mit.edu	37	17	18043974	18043974	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:18043974G>A	ENST00000205890.5	+	20	5693	c.5355G>A	c.(5353-5355)atG>atA	p.M1785I	MYO15A_ENST00000412324.1_3'UTR	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1785	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)					TGGAAAAGATGGAGAGGTGGG	0.612000											OREG0024223	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	62					0	0	0.00121646	0	0
OR5H15	403274	broad.mit.edu	37	3	97887620	97887620	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:97887620C>T	ENST00000356526.2	+	1	77	c.77C>T	c.(76-78)cCc>cTc	p.P26L		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	26					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						TGGAAAATACCCCTGTTCTTG	0.418000													13	64					0	0	0.00244969	0	0
TRIML2	205860	broad.mit.edu	37	4	189022258	189022258	+	Silent	SNP	C	C	T	rs141580546	by1000genomes	TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:189022258C>T	ENST00000512729.1	-	3	656	c.282G>A	c.(280-282)gcG>gcA	p.A94A	TRIML2_ENST00000536972.1_Silent_p.A144A|TRIML2_ENST00000326754.3_Silent_p.A94A	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	94							ligase activity			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		CAAGCTTGATCGCTTGATTCA	0.433000													17	16					0	0	0.00074312	0	0
MATN4	8785	broad.mit.edu	37	20	43929961	43929961	+	Splice_Site	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:43929961C>T	ENST00000537548.1	-	5	1010	c.766_splice	c.e5+1	p.A256_splice	MATN4_ENST00000360607.5_Intron|MATN4_ENST00000353917.5_Intron|MATN4_ENST00000342716.4_Splice_Site_p.A256_splice|MATN4_ENST00000372754.1_Splice_Site_p.A297_splice|MATN4_ENST00000372756.1_Splice_Site_p.A256_splice|MATN4_ENST00000372753.1_Splice_Site_p.A107_splice|MATN4_ENST00000372751.4_Splice_Site_p.A107_splice			O95460	MATN4_HUMAN	matrilin 4	297	EGF-like 2.					extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				TGTTGCTCACCCCTGCAGCTC	0.587000											OREG0025977	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	66					0	0	0.00229938	0	0
PCDHGB3	56102	broad.mit.edu	37	5	140751425	140751425	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:140751425C>T	ENST00000576222.1	+	1	1595	c.1464C>T	c.(1462-1464)tcC>tcT	p.S488S	PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCTTGTCTCCTACTACATCG	0.632000													29	28					0	0	0.00209593	0	0
POLK	51426	broad.mit.edu	37	5	74892785	74892785	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:74892785T>C	ENST00000241436.4	+	13	2439	c.2267T>C	c.(2266-2268)gTt>gCt	p.V756A	POLK_ENST00000506928.1_3'UTR|POLK_ENST00000504026.1_Intron|POLK_ENST00000508526.1_Missense_Mutation_p.V558A|POLK_ENST00000380481.3_Missense_Mutation_p.V666A|POLK_ENST00000352007.5_Missense_Mutation_p.V558A	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN	polymerase (DNA directed) kappa	756					DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		AACGAAGATGTTGGATCATTT	0.378000								DNA polymerases (catalytic subunits)					18	61					0	0	0.00229938	0	0
RPS6KL1	83694	broad.mit.edu	37	14	75376364	75376364	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:75376364C>T	ENST00000555647.1	-	8	1439	c.1152G>A	c.(1150-1152)gtG>gtA	p.V384V	RPS6KL1_ENST00000354625.2_Silent_p.V353V|RPS6KL1_ENST00000358328.4_Silent_p.V384V|RPS6KL1_ENST00000557413.1_Silent_p.V384V			Q9Y6S9	RPKL1_HUMAN	ribosomal protein S6 kinase-like 1	384	Protein kinase.					ribosome	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(234;0.00658)		GCTCCTCTCTCACACTCCAGG	0.711000													4	16					0	0	0.000602214	0	0
CHD1	1105	broad.mit.edu	37	5	98212152	98212152	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:98212152C>T	ENST00000284049.3	-	23	3497	c.3348G>A	c.(3346-3348)cgG>cgA	p.R1116R		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1116					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	GAGGAATAGTCCGTGGTCTTC	0.428000													37	129					0	0	0.0025221	0	0
PROKR2	128674	broad.mit.edu	37	20	5294653	5294653	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:5294653C>T	ENST00000546004.1	-	2	609	c.363G>A	c.(361-363)tgG>tgA	p.W121*	PROKR2_ENST00000217270.3_Nonsense_Mutation_p.W121*			Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	121						integral to membrane|plasma membrane	neuropeptide Y receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						GGCCATGCTCCCAGGAGAGCT	0.592000										HNSCC(71;0.22)			7	30					0	0	0.00307968	0	0
MORC1	27136	broad.mit.edu	37	3	108725917	108725917	+	Missense_Mutation	SNP	C	C	T	rs138435095		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:108725917C>T	ENST00000232603.5	-	18	1808	c.1726G>A	c.(1726-1728)Gaa>Aaa	p.E576K	MORC1_ENST00000483760.1_Intron	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	576					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	p.E576K(2)		breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						ACAGTGATTTCGTCCACTGGT	0.363000													13	57					0	0	0.00400662	0	0
HRNR	388697	broad.mit.edu	37	1	152187656	152187656	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:152187656C>T	ENST00000368801.2	-	3	6524	c.6449G>A	c.(6448-6450)gGa>gAa	p.G2150E	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2150					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGAGCTAGATCCGTGTCGTTC	0.582000													33	769					0	0	0.00222228	0	0
NAALADL2	254827	broad.mit.edu	37	3	175293879	175293879	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:175293879C>T	ENST00000454872.1	+	10	1832	c.1704C>T	c.(1702-1704)atC>atT	p.I568I	NAALADL2_ENST00000473253.1_3'UTR	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	568					proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		AAACCAATATCAGTTCTATAC	0.373000													15	75					0	0	0.00316338	0	0
ZNF606	80095	broad.mit.edu	37	19	58490541	58490541	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:58490541G>A	ENST00000341164.4	-	7	2127	c.1507C>T	c.(1507-1509)Cag>Tag	p.Q503*	ZNF606_ENST00000536132.1_Nonsense_Mutation_p.Q413*	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	503					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		TGAGTCCTCTGATGTCCAATA	0.383000													9	25					0	0	0.000274275	0	0
SORL1	6653	broad.mit.edu	37	11	121384861	121384861	+	Splice_Site	SNP	G	G	A	rs149041363		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:121384861G>A	ENST00000260197.7	+	8	1171	c.1041_splice	c.e8-1	p.E348_splice	SORL1_ENST00000532451.1_3'UTR	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	348					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity	p.E348K(1)		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)		GATTCCAAAGGAATATTACAT	0.433000													11	28					0	0	0.00185496	0	0
ZNF248	57209	broad.mit.edu	37	10	38126611	38126611	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:38126611A>C	ENST00000395867.3	-	5	722	c.172T>G	c.(172-174)Ttt>Gtt	p.F58V	ZNF248_ENST00000374648.3_Missense_Mutation_p.F58V|ZNF248_ENST00000357328.4_Missense_Mutation_p.F58V|ZNF248_ENST00000494133.1_5'UTR	NM_001267605.1|NM_001267606.1|NM_001267607.1|NM_021045.2	NP_001254534.1|NP_001254535.1|NP_001254536.1|NP_066383.1	Q8NDW4	ZN248_HUMAN	zinc finger protein 248	58	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						TCGATCTTAAAGATCACTTCT	0.443000													7	15					0	0	0.00198382	0	0
LIX1	167410	broad.mit.edu	37	5	96430739	96430739	+	Splice_Site	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:96430739C>T	ENST00000274382.4	-	6	857	c.561_splice	c.e6-1	p.E188_splice	CTD-2215E18.1_ENST00000509481.1_Intron	NM_153234.4	NP_694966.3	Q8N485	LIX1_HUMAN	Lix1 homolog (chicken)	188										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)	10		all_cancers(142;4.28e-07)|all_epithelial(76;1.06e-09)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0318)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.0733)		GAGATGACTTCCTGGGGGCCA	0.498000													5	14					0	0	0.000602214	0	0
SPTA1	6708	broad.mit.edu	37	1	158650417	158650417	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:158650417C>T	ENST00000368148.3	-	5	814	c.634G>A	c.(634-636)Ggg>Agg	p.G212R	SPTA1_ENST00000368147.3_Missense_Mutation_p.G212R	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	212					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			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)					ACAACTCTCCCTTCTTTAGCT	0.463000													17	64					0	0	0.00152264	0	0
FAT3	120114	broad.mit.edu	37	11	92085467	92085467	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:92085467C>G	ENST00000298047.6	+	1	206	c.189C>G	c.(187-189)aaC>aaG	p.N63K	FAT3_ENST00000541502.1_Missense_Mutation_p.N63K|FAT3_ENST00000409404.2_Missense_Mutation_p.N63K			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	63	Cadherin 1.				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)				CCTACGTCAACAGCCAGAGTA	0.493000										TCGA Ovarian(4;0.039)			33	137					0	0	0.00428921	0	0
STK19	8859	broad.mit.edu	37	6	31940079	31940079	+	Splice_Site	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:31940079G>A	ENST00000375331.2	+	2	387	c.220_splice	c.e2-1	p.G74_splice	STK19_ENST00000375333.2_Splice_Site_p.G74_splice	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN	serine/threonine kinase 19	74						nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			skin(5)|upper_aerodigestive_tract(2)	7						CCTGGTCTAGGAGGGACGCCC	0.607000													9	75					0	0	0.000978159	0	0
TP53I11	9537	broad.mit.edu	37	11	44959122	44959122	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:44959122C>T	ENST00000533940.1	-	6	776	c.172G>A	c.(172-174)Gag>Aag	p.E58K	TP53I11_ENST00000308212.5_Missense_Mutation_p.E58K|TP53I11_ENST00000531130.2_5'UTR|TP53I11_ENST00000395648.3_Missense_Mutation_p.E58K|TP53I11_ENST00000531928.2_Missense_Mutation_p.E58K|TP53I11_ENST00000525680.1_Missense_Mutation_p.E58K	NM_001258320.1	NP_001245249.1	O14683	P5I11_HUMAN	tumor protein p53 inducible protein 11	58					negative regulation of cell proliferation|response to stress	integral to membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(1)	5						CCCAAAGGCTCCCGAATGGTA	0.577000													4	17					0	0	0.00116845	0	0
FLNB	2317	broad.mit.edu	37	3	58121716	58121716	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:58121716G>A	ENST00000357272.4	+	28	4847	c.4682G>A	c.(4681-4683)gGa>gAa	p.G1561E	FLNB_ENST00000490882.1_Missense_Mutation_p.G1592E|FLNB_ENST00000493452.1_Missense_Mutation_p.G1392E|FLNB_ENST00000295956.4_Missense_Mutation_p.G1561E|FLNB_ENST00000429972.2_Missense_Mutation_p.G1561E|FLNB_ENST00000348383.5_Missense_Mutation_p.G1561E|FLNB_ENST00000358537.3_Missense_Mutation_p.G1561E|FLNB_ENST00000419752.2_Missense_Mutation_p.G1392E			O75369	FLNB_HUMAN	filamin B, beta	1561					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GACCAAGAAGGAAAACCCAAA	0.423000													7	21					0	0	0.00307968	0	0
AQR	9716	broad.mit.edu	37	15	35192911	35192911	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:35192911G>A	ENST00000156471.5	-	20	2380	c.2155C>T	c.(2155-2157)Ctc>Ttc	p.L719F		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	719						catalytic step 2 spliceosome	RNA binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		TCAATGGAGAGAAATGTATCA	0.413000													8	53					0	0	0.000442599	0	0
TINAG	27283	broad.mit.edu	37	6	54186101	54186101	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:54186101C>T	ENST00000259782.4	+	3	522	c.426C>T	c.(424-426)tgC>tgT	p.C142C	TINAG_ENST00000486436.1_3'UTR|TINAG_ENST00000370864.3_Silent_p.C124C|TINAG_ENST00000370869.3_Silent_p.C138C	NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	142					cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			GCAGCACATGCTCAGGACAGC	0.353000													11	48					0	0	0.00136819	0	0
AVPR1B	553	broad.mit.edu	37	1	206224444	206224444	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:206224444G>T	ENST00000367126.4	+	1	469	c.4G>T	c.(4-6)Gat>Tat	p.D2Y		NM_000707.3	NP_000698.1	P47901	V1BR_HUMAN	arginine vasopressin receptor 1B	2					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	CTTGCTCATGGATTCTGGGCC	0.602000													42	115					6.61755e-12	1.93282e-11	0.00361006	1	0
BUB1B	701	broad.mit.edu	37	15	40498544	40498544	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:40498544C>T	ENST00000287598.6	+	15	2089	c.1894C>T	c.(1894-1896)Cct>Tct	p.P632S	BUB1B_ENST00000412359.3_Missense_Mutation_p.P646S	NM_001211.5	NP_001202.4	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	632					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		GAAGGATCTCCCTTCTGATCC	0.453000			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome				13	42					0	0	0.00185496	0	0
FAP	2191	broad.mit.edu	37	2	163044724	163044724	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:163044724C>T	ENST00000188790.4	-	20	1976	c.1769G>A	c.(1768-1770)cGa>cAa	p.R590Q	FAP_ENST00000443424.1_Missense_Mutation_p.R565Q	NM_004460.2	NP_004451.2	Q12884	SEPR_HUMAN	fibroblast activation protein, alpha	590					endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						ACCCAGCTTTCGATACACTGC	0.443000													8	41					0	0	0.000442599	0	0
FAM47A	158724	broad.mit.edu	37	X	34148365	34148365	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:34148365C>T	ENST00000346193.3	-	1	2082	c.2031G>A	c.(2029-2031)agG>agA	p.R677R		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	677										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TGTGGAATTTCCTGCCCCAGT	0.433000													15	50					0	0	0.00400662	0	0
TTN	7273	broad.mit.edu	37	2	179430436	179430436	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:179430436C>T	ENST00000589042.1	-	326	80647	c.80423G>A	c.(80422-80424)gGc>gAc	p.G26808D	TTN_ENST00000342175.6_Missense_Mutation_p.G17935D|TTN_ENST00000460472.2_Missense_Mutation_p.G17743D|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G24240D|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G25167D|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G17868D|TTN-AS1_ENST00000592750.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	25167							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)			TCTGCTACCGCCATCATGTTC	0.483000													23	38					0	0	0.00229938	0	0
CYP4Z1	199974	broad.mit.edu	37	1	47533301	47533301	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:47533301C>T	ENST00000334194.3	+	1	142	c.139C>T	c.(139-141)Cct>Tct	p.P47S		NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 1	47						endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						GCACCTGTTTCCTGCACCCCC	0.488000													7	27					0	0	0.000978159	0	0
SPEN	23013	broad.mit.edu	37	1	16255331	16255331	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:16255331G>A	ENST00000375759.3	+	11	2800	c.2596G>A	c.(2596-2598)Gga>Aga	p.G866R		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	866					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)		TGACAAAGAGGGAATAGCGAA	0.463000													11	51					0	0	0.000978159	0	0
AUTS2	26053	broad.mit.edu	37	7	69364339	69364339	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:69364339G>A	ENST00000342771.4	+	2	698	c.377G>A	c.(376-378)cGa>cAa	p.R126Q	AUTS2_ENST00000406775.2_Missense_Mutation_p.R126Q|AUTS2_ENST00000403018.2_Missense_Mutation_p.R126Q	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	126										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)		AAGAAGAAACGAGAAGCACTT	0.483000													6	48					0	0	0.00307968	0	0
FAT3	120114	broad.mit.edu	37	11	92086197	92086197	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:92086197G>A	ENST00000298047.6	+	1	936	c.919G>A	c.(919-921)Gat>Aat	p.D307N	FAT3_ENST00000541502.1_Missense_Mutation_p.D307N|FAT3_ENST00000525166.1_Missense_Mutation_p.D157N|FAT3_ENST00000409404.2_Missense_Mutation_p.D307N			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	307	Cadherin 3.				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)				TGTGGCTGGGGATCCTTTAGA	0.448000										TCGA Ovarian(4;0.039)			34	155					0	0	0.00375469	0	0
NFATC1	4772	broad.mit.edu	37	18	77170517	77170517	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:77170517C>T	ENST00000253506.5	+	2	611	c.242C>T	c.(241-243)cCg>cTg	p.P81L	NFATC1_ENST00000586434.1_Missense_Mutation_p.P68L|NFATC1_ENST00000542384.1_Missense_Mutation_p.P81L|NFATC1_ENST00000318065.5_Missense_Mutation_p.P68L|NFATC1_ENST00000427363.2_Missense_Mutation_p.P81L|NFATC1_ENST00000592223.1_Missense_Mutation_p.P68L|NFATC1_ENST00000545796.1_Intron|NFATC1_ENST00000587635.1_Missense_Mutation_p.P81L|NFATC1_ENST00000329101.4_Missense_Mutation_p.P68L|NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000591814.1_Missense_Mutation_p.P81L	NM_006162.3	NP_006153.2	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	81					intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.P68L(1)		NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		GGCATCATCCCGCCGGCGGAT	0.721000													8	33					0	0	0.000442599	0	0
FRYL	285527	broad.mit.edu	37	4	48529500	48529500	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:48529500A>C	ENST00000537810.1	-	53	7915	c.7311T>G	c.(7309-7311)gaT>gaG	p.D2437E	FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000503238.1_Missense_Mutation_p.D2437E|FRYL_ENST00000358350.4_Missense_Mutation_p.D2437E|FRYL_ENST00000264319.7_5'UTR			O94915	FRYL_HUMAN	FRY-like	2437					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						TTACCTCTGCATCTTCCAATT	0.348000													10	58					0	0	0.000673444	0	0
CCDC171	203238	broad.mit.edu	37	9	15744343	15744343	+	Missense_Mutation	SNP	C	C	T	rs144600578		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:15744343C>T	ENST00000380701.3	+	17	2450	c.2122C>T	c.(2122-2124)Ctt>Ttt	p.L708F	CCDC171_ENST00000297641.3_Missense_Mutation_p.L708F	NM_173550.2	NP_775821.2	Q6TFL3	CI093_HUMAN	coiled-coil domain containing 171	708																	ACAGTTGGTTCTTGAAAATTC	0.363000													9	32					0	0	0.000274275	0	0
CASC5	57082	broad.mit.edu	37	15	40949251	40949251	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:40949251C>T	ENST00000346991.5	+	24	6964	c.6574C>T	c.(6574-6576)Cct>Tct	p.P2192S	CASC5_ENST00000399668.2_Missense_Mutation_p.P2166S			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	2192	Necessary for kinetochore localization and for interaction with NSL1 and DSN1.				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		ggatcaagctcctccttcctc	0.343000													9	6					0	0	0.000274275	0	0
LRP1B	53353	broad.mit.edu	37	2	141459397	141459397	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:141459397G>A	ENST00000389484.3	-	40	7291	c.6320C>T	c.(6319-6321)tCt>tTt	p.S2107F		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2107					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.S2107F(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCTTCTGACAGACCCGTTTGC	0.418000										TSP Lung(27;0.18)			6	25					0	0	0.00307968	0	0
TACC2	10579	broad.mit.edu	37	10	124001492	124001492	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:124001492G>A	ENST00000369005.1	+	19	8708	c.8368G>A	c.(8368-8370)Gag>Aag	p.E2790K	TACC2_ENST00000360561.3_Missense_Mutation_p.E838K|TACC2_ENST00000334433.3_Missense_Mutation_p.E2790K|TACC2_ENST00000513429.1_Missense_Mutation_p.E936K|TACC2_ENST00000358010.1_Missense_Mutation_p.E936K|TACC2_ENST00000368999.1_Missense_Mutation_p.E880K|TACC2_ENST00000369004.3_Missense_Mutation_p.E850K|TACC2_ENST00000369000.1_Missense_Mutation_p.E413K|TACC2_ENST00000515273.1_Missense_Mutation_p.E2717K|TACC2_ENST00000260733.3_Missense_Mutation_p.E868K|TACC2_ENST00000369001.1_Missense_Mutation_p.E417K|TACC2_ENST00000453444.2_Missense_Mutation_p.E2717K|TACC2_ENST00000515603.1_Missense_Mutation_p.E2668K	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2790						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GGCCGAGTATGAGAAGACCAT	0.517000													18	51					0	0	0.00229938	0	0
NOS1	4842	broad.mit.edu	37	12	117718614	117718614	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:117718614C>T	ENST00000317775.6	-	8	2125	c.1440G>A	c.(1438-1440)tgG>tgA	p.W480*	NOS1_ENST00000338101.4_Nonsense_Mutation_p.W480*|NOS1_ENST00000344089.3_3'UTR	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	480					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	p.W480*(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GCTGGGAGTTCCAGACTCGGA	0.622000													7	22					0	0	0.00198382	0	0
INO80C	125476	broad.mit.edu	37	18	33060428	33060428	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:33060428G>A	ENST00000592173.1	-	2	314	c.256C>T	c.(256-258)Ccc>Tcc	p.P86S	RP11-322E11.6_ENST00000589258.1_Intron|INO80C_ENST00000586489.1_Missense_Mutation_p.P31S|INO80C_ENST00000441607.2_Missense_Mutation_p.P122S|INO80C_ENST00000334598.7_Missense_Mutation_p.P86S|INO80C_ENST00000590757.1_Intron			Q6PI98	IN80C_HUMAN	INO80 complex subunit C	86					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|MLL1 complex				central_nervous_system(1)|endometrium(1)|lung(3)|prostate(2)|skin(1)	8						ACAAAGTTGGGATCCTTAAAT	0.488000													19	58					0	0	0.00152264	0	0
RBL2	5934	broad.mit.edu	37	16	53485635	53485635	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:53485635G>T	ENST00000262133.6	+	5	795	c.658G>T	c.(658-660)Gat>Tat	p.D220Y	RBL2_ENST00000379935.4_3'UTR|RBL2_ENST00000544545.1_Missense_Mutation_p.D4Y	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2 (p130)	220					cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CATGATTAGTGATGATTTGGT	0.333000													10	286					0.00010058	0.00029161	0.00136819	1	0
SAMSN1	64092	broad.mit.edu	37	21	15858346	15858346	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr21:15858346C>T	ENST00000285670.2	-	9	1387	c.1213G>A	c.(1213-1215)Gac>Aac	p.D405N	SAMSN1_ENST00000400566.1_Missense_Mutation_p.D337N|SAMSN1_ENST00000400564.1_Missense_Mutation_p.D169N	NM_001256370.1	NP_001243299.1	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization signals 1	337					negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		CAACCAGAGTCCCTTGGGCAG	0.398000													11	25					0	0	0.000673444	0	0
PI3	5266	broad.mit.edu	37	20	43803618	43803618	+	Missense_Mutation	SNP	G	G	A	rs139625638	byFrequency	TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:43803618G>A	ENST00000243924.3	+	1	102	c.55G>A	c.(55-57)Gtt>Att	p.V19I		NM_002638.3	NP_002629.1	P19957	ELAF_HUMAN	peptidase inhibitor 3, skin-derived	19					copulation	proteinaceous extracellular matrix	serine-type endopeptidase inhibitor activity			large_intestine(1)|lung(5)|skin(1)	7		Myeloproliferative disorder(115;0.0122)				TGGGACGCTGGTTCTAGAGGC	0.587000													14	19					0	0	0.00316338	0	0
DSC3	1825	broad.mit.edu	37	18	28609486	28609486	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:28609486A>T	ENST00000434452.1	-	4	617	c.463T>A	c.(463-465)Ttt>Att	p.F155I	DSC3_ENST00000360428.4_Missense_Mutation_p.F155I	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3	155	Cadherin 1.				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)			TGTTGAAGAAACAATGGGAAA	0.398000													11	64					0	0	0.000673444	0	0
GTF3C1	2975	broad.mit.edu	37	16	27504020	27504020	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:27504020G>A	ENST00000356183.4	-	18	2906	c.2891C>T	c.(2890-2892)tCg>tTg	p.S964L	GTF3C1_ENST00000561623.1_Missense_Mutation_p.S964L	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	964						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CTCCACCACCGAAAAAATGTA	0.562000													18	57					0	0	0.00121646	0	0
TRIO	7204	broad.mit.edu	37	5	14477057	14477057	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:14477057C>T	ENST00000344204.4	+	41	6162	c.6138C>T	c.(6136-6138)tcC>tcT	p.S2046S	TRIO_ENST00000537187.1_Silent_p.S2046S	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2046	DH 2.				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)					AACTAGGATCCCTTTTTGTTA	0.373000													15	34					0	0	0.000566183	0	0
TMEM125	128218	broad.mit.edu	37	1	43738454	43738454	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:43738454G>A	ENST00000432792.2	+	4	631	c.61G>A	c.(61-63)Gag>Aag	p.E21K	TMEM125_ENST00000439858.1_Missense_Mutation_p.E21K			Q96AQ2	TM125_HUMAN	transmembrane protein 125	21						integral to membrane				breast(1)|large_intestine(1)|lung(1)	3	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CATGCTGGCAGAGCAGGTGGA	0.711000													5	3					0	0	0.00116845	0	0
PPP4R4	57718	broad.mit.edu	37	14	94697620	94697620	+	Missense_Mutation	SNP	G	G	A	rs149895295		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:94697620G>A	ENST00000304338.3	+	5	638	c.484G>A	c.(484-486)Gaa>Aaa	p.E162K		NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	162						cytoplasm|protein serine/threonine phosphatase complex	protein binding	p.E162K(1)		NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						GTCTGTTATAGAAGTATTGCC	0.358000													11	56					0	0	0.00244969	0	0
SLC34A3	142680	broad.mit.edu	37	9	140126549	140126549	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:140126549G>A	ENST00000538474.1	+	3	335	c.111G>A	c.(109-111)ttG>ttA	p.L37L	SLC34A3_ENST00000361134.2_Silent_p.L37L	NM_001177316.1|NM_001177317.1	NP_001170787.1|NP_001170788.1	Q8N130	NPT2C_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 3	37					cellular phosphate ion homeostasis	apical plasma membrane|integral to membrane	sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		CTCCAGTCTTGGAGGAAGGGG	0.632000													12	43					0	0	0.00316338	0	0
GPLD1	2822	broad.mit.edu	37	6	24475400	24475400	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:24475400G>A	ENST00000230036.1	-	5	500	c.390C>T	c.(388-390)gtC>gtT	p.V130V	GPLD1_ENST00000474784.1_5'UTR	NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	130						extracellular region	glycosylphosphatidylinositol phospholipase D activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						TATGCCAGCTGACATCTGCCG	0.458000													23	140					0	0	0.001512	0	0
PCLO	27445	broad.mit.edu	37	7	82544691	82544691	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:82544691G>A	ENST00000423517.2	-	7	12948	c.12611C>T	c.(12610-12612)tCa>tTa	p.S4204L	PCLO_ENST00000333891.8_Missense_Mutation_p.S4204L|PCLO_ENST00000437081.1_Missense_Mutation_p.S924L	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4135					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						TTGAATAGGTGAAAATTTTGA	0.383000													6	28					0	0	0.00116845	0	0
VWA3B	200403	broad.mit.edu	37	2	98853107	98853107	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:98853107G>A	ENST00000477737.1	+	19	2791	c.2587G>A	c.(2587-2589)Gat>Aat	p.D863N		NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	863										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CACCCTCATGGATGCCTTGTC	0.483000													26	68					0	0	0.000720815	0	0
EPHA6	285220	broad.mit.edu	37	3	97124000	97124000	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:97124000C>T	ENST00000389672.5	+	6	1651	c.1613C>T	c.(1612-1614)tCc>tTc	p.S538F		NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	443						integral to plasma membrane	ATP binding|ephrin receptor activity			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						TCAGCACCTTCCCTGATAGGT	0.393000													4	6					0	0	0.000602214	0	0
TIAM1	7074	broad.mit.edu	37	21	32492715	32492715	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr21:32492715G>A	ENST00000286827.3	-	29	5218	c.4747C>T	c.(4747-4749)Ccc>Tcc	p.P1583S	TIAM1_ENST00000541036.1_Missense_Mutation_p.P1523S	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1583					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						TTCCTGGAGGGGGCAAAGTCT	0.562000													6	11					0	0	0.00307968	0	0
BPTF	2186	broad.mit.edu	37	17	65909118	65909118	+	Silent	SNP	A	A	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:65909118A>G	ENST00000321892.4	+	13	5557	c.5496A>G	c.(5494-5496)ccA>ccG	p.P1832P	BPTF_ENST00000335221.5_Silent_p.P1832P|BPTF_ENST00000306378.6_Silent_p.P1706P|BPTF_ENST00000424123.3_Silent_p.P1693P			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1832					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			CAGCTCTGCCATCCTATAGAA	0.398000													11	61					0	0	0.00185496	0	0
C3orf20	84077	broad.mit.edu	37	3	14763166	14763166	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:14763166G>A	ENST00000253697.3	+	10	1893	c.1441G>A	c.(1441-1443)Gag>Aag	p.E481K	C3orf20_ENST00000495387.1_3'UTR|C3orf20_ENST00000435614.1_Missense_Mutation_p.E359K|C3orf20_ENST00000412910.1_Missense_Mutation_p.E359K	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	481						cytoplasm|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						ACAGGTGAATGAGGAAATGAA	0.517000													10	41					0	0	0.00136819	0	0
SCAPER	49855	broad.mit.edu	37	15	77059417	77059417	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:77059417C>A	ENST00000538941.2	-	11	1462	c.523G>T	c.(523-525)Gtc>Ttc	p.V175F	SCAPER_ENST00000324767.7_Missense_Mutation_p.V421F|SCAPER_ENST00000563290.1_Missense_Mutation_p.V421F	NM_001145923.1	NP_001139395.1	Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	420						endoplasmic reticulum|nucleus	zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						TTAGCAAGGACTTCTGCCATG	0.338000													11	16					3.07112e-06	8.92309e-06	0.000978159	1	0
MPDZ	8777	broad.mit.edu	37	9	13168523	13168523	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:13168523G>A	ENST00000319217.7	-	22	3343	c.3096C>T	c.(3094-3096)atC>atT	p.I1032I	MPDZ_ENST00000541718.1_Silent_p.I1032I|MPDZ_ENST00000381022.2_Silent_p.I1032I|MPDZ_ENST00000536827.1_Silent_p.I1032I|MPDZ_ENST00000546205.1_Silent_p.I1032I|MPDZ_ENST00000447879.1_Silent_p.I1032I|MPDZ_ENST00000381015.4_Silent_p.I1032I	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1032	PDZ 6.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		TGCTTCGAACGATCATCCCCA	0.373000													21	73					0	0	0.00127121	0	0
MYLK	4638	broad.mit.edu	37	3	123452731	123452731	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:123452731C>T	ENST00000360772.3	-	11	1490	c.1112G>A	c.(1111-1113)aGg>aAg	p.R371K	MYLK_ENST00000475616.1_Missense_Mutation_p.R371K|MYLK_ENST00000346322.5_Missense_Mutation_p.R371K|MYLK_ENST00000360304.3_Missense_Mutation_p.R371K|MYLK_ENST00000359169.1_Missense_Mutation_p.R371K			Q15746	MYLK_HUMAN	myosin light chain kinase	371					aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TGGCCTCTTCCTCTCTTCTCC	0.612000													7	47					0	0	0.00198382	0	0
TIMELESS	8914	broad.mit.edu	37	12	56812082	56812082	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:56812082G>A	ENST00000229201.4	-	27	3441	c.3287C>T	c.(3286-3288)tCt>tTt	p.S1096F	TIMELESS_ENST00000554616.1_Missense_Mutation_p.S594F|TIMELESS_ENST00000553532.1_Missense_Mutation_p.S1097F	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN	timeless circadian clock	1097					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						TTGACTCAAAGAAGCTGCTGC	0.547000													20	88					0	0	0.00332997	0	0
C3	718	broad.mit.edu	37	19	6682022	6682022	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:6682022C>T	ENST00000245907.6	-	35	4372	c.4280G>A	c.(4279-4281)aGa>aAa	p.R1427K		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1427	Properdin-binding.				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		GGAGATGTATCTGTCAACACC	0.552000													18	56					0	0	0.00188189	0	0
SCRN1	9805	broad.mit.edu	37	7	29976307	29976307	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:29976307G>A	ENST00000426154.1	-	6	946	c.770C>T	c.(769-771)aCc>aTc	p.T257I	SCRN1_ENST00000242059.5_Missense_Mutation_p.T257I|SCRN1_ENST00000409497.1_Missense_Mutation_p.T257I|SCRN1_ENST00000416113.2_Missense_Mutation_p.T83I	NM_001145513.1	NP_001138985.1	Q12765	SCRN1_HUMAN	secernin 1	257					exocytosis|proteolysis	cytoplasm|nuclear membrane	dipeptidase activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2)	25						GTCCCGTAAGGTGTTCATCAT	0.512000													19	119					0	0	0.00229938	0	0
SCN4A	6329	broad.mit.edu	37	17	62036630	62036630	+	Missense_Mutation	SNP	G	G	A	rs80338785		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:62036630G>A	ENST00000578147.1	-	12	2090	c.2014C>T	c.(2014-2016)Cgt>Tgt	p.R672C	SCN4A_ENST00000435607.1_Missense_Mutation_p.R672C			P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	672			R -> C (in HOKPP2).|R -> G (in HOKPP2).|R -> H (in HOKPP2).|R -> S (in HOKPP2).		muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	TGTACCAGACGGAAGGAGCGT	0.607000													8	24					0	0	0.000673444	0	0
LRRK2	120892	broad.mit.edu	37	12	40681237	40681237	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:40681237G>A	ENST00000298910.7	+	20	2643	c.2585G>A	c.(2584-2586)gGa>gAa	p.G862E	LRRK2_ENST00000343742.2_Missense_Mutation_p.G862E	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	862					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				GGCAGCGATGGAAATTTTTCT	0.393000													5	26					0	0	0.000602214	0	0
CER1	9350	broad.mit.edu	37	9	14722658	14722658	+	Silent	SNP	A	A	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:14722658A>G	ENST00000380911.3	-	1	57	c.13T>C	c.(13-15)Tta>Cta	p.L5L		NM_005454.2	NP_005445.1	O95813	CER1_HUMAN	cerberus 1, DAN family BMP antagonist	5					BMP signaling pathway	extracellular space	cytokine activity			endometrium(2)|large_intestine(3)|lung(6)	11				GBM - Glioblastoma multiforme(50;3.16e-06)		AGCTGAAATAAGAGGAGATGC	0.517000													7	19					0	0	0.00198382	0	0
ALOX5	240	broad.mit.edu	37	10	45938633	45938633	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:45938633G>A	ENST00000374391.2	+	10	1473	c.1420G>A	c.(1420-1422)Gac>Aac	p.D474N	ALOX5_ENST00000493336.1_3'UTR|ALOX5_ENST00000542434.1_Missense_Mutation_p.D474N	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	474	Lipoxygenase.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)	CTACCGGGACGACGGGCTCCT	0.667000													15	61					0	0	0.00121646	0	0
SART1	9092	broad.mit.edu	37	11	65729299	65729299	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:65729299G>A	ENST00000312397.5	+	1	140	c.48G>A	c.(46-48)acG>acA	p.T16T	SART1_ENST00000528573.1_3'UTR	NM_005146.4	NP_005137.1	O43290	SNUT1_HUMAN	squamous cell carcinoma antigen recognized by T cells	16					cell cycle arrest|induction of apoptosis by intracellular signals|positive regulation of cytotoxic T cell differentiation|spliceosomal snRNP assembly	Cajal body|catalytic step 2 spliceosome|cytosol				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						cggccgggacgacggcggcgg	0.697000													6	13					0	0	0.00198382	0	0
LRP4	4038	broad.mit.edu	37	11	46898047	46898047	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:46898047G>A	ENST00000378623.1	-	25	3748	c.3506C>T	c.(3505-3507)cCc>cTc	p.P1169L		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1169					endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		GATGGCCCGGGGACTGTCAAG	0.577000													9	30					0	0	0.000274275	0	0
SOGA3	387104	broad.mit.edu	37	6	127796835	127796835	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:127796835C>T	ENST00000556132.1	-	6	3200	c.2336G>A	c.(2335-2337)gGc>gAc	p.G779D	SOGA3_ENST00000474293.2_5'UTR|SOGA3_ENST00000368268.2_Missense_Mutation_p.G779D|SOGA3_ENST00000465909.2_Missense_Mutation_p.G779D|SOGA3_ENST00000481848.2_Missense_Mutation_p.G779D|SOGA3_ENST00000525778.1_Missense_Mutation_p.G779D	NM_001012279.2	NP_001012279.1	Q5TF21	CF174_HUMAN	SOGA family member 3	779						integral to membrane											GTCGCTCTCGCCGCCGATGGG	0.726000													6	10					0	0	0.00116845	0	0
ZNF780A	284323	broad.mit.edu	37	19	40581652	40581652	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:40581652G>A	ENST00000450241.2	-	6	906	c.595C>T	c.(595-597)Ctt>Ttt	p.L199F	ZNF780A_ENST00000595687.2_Missense_Mutation_p.L233F|ZNF780A_ENST00000340963.5_Missense_Mutation_p.L233F|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000455521.1_Missense_Mutation_p.L234F|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000594395.1_Missense_Mutation_p.L234F			O75290	Z780A_HUMAN	zinc finger protein 780A	233					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					AGCAGGGTAAGAAGACTAAAG	0.388000													19	48					0	0	0.000958276	0	0
GRIN2A	2903	broad.mit.edu	37	16	9892287	9892287	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:9892287A>T	ENST00000396573.2	-	12	2512	c.2203T>A	c.(2203-2205)Ttg>Atg	p.L735M	GRIN2A_ENST00000404927.2_Missense_Mutation_p.L735M|GRIN2A_ENST00000396575.2_Missense_Mutation_p.L735M|GRIN2A_ENST00000535259.1_Missense_Mutation_p.L578M|GRIN2A_ENST00000330684.3_Missense_Mutation_p.L735M|GRIN2A_ENST00000562109.1_Missense_Mutation_p.L735M	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	735					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)	TTGTAATTCAAGACTGCGGCA	0.552000													16	15					0	0	0.000566183	0	0
DSCAML1	57453	broad.mit.edu	37	11	117374729	117374729	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:117374729C>T	ENST00000321322.6	-	11	2371	c.2370G>A	c.(2368-2370)ggG>ggA	p.G790G	DSCAML1_ENST00000527706.1_Silent_p.G520G	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	730	Ig-like C2-type 9.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GCTGGGGGTTCCCGCTCCCTG	0.632000													9	35					0	0	0.000978159	0	0
AMPH	273	broad.mit.edu	37	7	38433715	38433715	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:38433715G>A	ENST00000356264.2	-	18	1713	c.1498C>T	c.(1498-1500)Cct>Tct	p.P500S	AMPH_ENST00000325590.5_Missense_Mutation_p.P458S|AMPH_ENST00000471913.1_5'UTR|AMPH_ENST00000428293.2_Missense_Mutation_p.P458S	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	500					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						TCCCCGGCAGGGACAGTGGCC	0.572000													15	80					0	0	0.00400662	0	0
SBNO2	22904	broad.mit.edu	37	19	1127726	1127726	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:1127726G>A	ENST00000361757.3	-	5	555	c.318C>T	c.(316-318)atC>atT	p.I106I	SBNO2_ENST00000587024.1_Silent_p.I106I|SBNO2_ENST00000438103.2_Silent_p.I49I	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	106					macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|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)		ACGAGGAGAAGATGGAGATGT	0.607000													9	25					0	0	0.000442599	0	0
CUX2	23316	broad.mit.edu	37	12	111785719	111785719	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:111785719C>T	ENST00000261726.6	+	22	4205	c.4051C>T	c.(4051-4053)Cca>Tca	p.P1351S		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1351	Pro-rich.					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						GCCCCTCCTTCCAGGTGGATC	0.607000													6	45					0	0	0.00307968	0	0
WWC1	23286	broad.mit.edu	37	5	167881016	167881016	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:167881016G>A	ENST00000265293.4	+	18	3071	c.2569G>A	c.(2569-2571)Gag>Aag	p.E857K	WWC1_ENST00000521089.1_Missense_Mutation_p.E857K|WWC1_ENST00000522140.1_3'UTR	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	857	Glu-rich.|Interaction with histone H3.				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		AGCCgaggaagaggaggagga	0.542000													7	27					0	0	0.000442599	0	0
KLC4	89953	broad.mit.edu	37	6	43034082	43034082	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:43034082G>A	ENST00000394056.2	+	6	1105	c.610G>A	c.(610-612)Gga>Aga	p.G204R	KLC4_ENST00000394058.1_Missense_Mutation_p.G204R|KLC4_ENST00000259708.3_Missense_Mutation_p.G222R|KLC4_ENST00000458460.2_Missense_Mutation_p.G204R|KLC4_ENST00000453940.2_Missense_Mutation_p.G127R|KLC4_ENST00000347162.5_Missense_Mutation_p.G204R|KLC4_ENST00000479388.1_Missense_Mutation_p.G204R			Q9NSK0	KLC4_HUMAN	kinesin light chain 4	204						cytoplasm|kinesin complex|microtubule	microtubule motor activity|protein binding			endometrium(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(4)	23			all cancers(41;0.00169)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0376)|KIRC - Kidney renal clear cell carcinoma(2;0.0453)			TCAGCAGGGTGGATATGAGAT	0.552000													11	77					0	0	0.00185496	0	0
NADK	65220	broad.mit.edu	37	1	1696783	1696783	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:1696783G>A	ENST00000344463.4	-	2	284	c.63C>T	c.(61-63)taC>taT	p.Y21Y	NADK_ENST00000492768.1_5'UTR|NADK_ENST00000341426.5_Silent_p.Y21Y|NADK_ENST00000378625.1_Silent_p.Y21Y|NADK_ENST00000341991.3_Silent_p.Y21Y			O95544	NADK_HUMAN	NAD kinase	21					ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|NAD+ kinase activity|protein binding			NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1)	17	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)		CCGAGCAGCAGTAAGCAGCCG	0.552000													9	41					0	0	0.000274275	0	0
PTK7	5754	broad.mit.edu	37	6	43096813	43096813	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:43096813C>T	ENST00000230419.4	+	2	399	c.178C>T	c.(178-180)Ccg>Tcg	p.P60S	PTK7_ENST00000471863.1_Missense_Mutation_p.P60S|PTK7_ENST00000345201.2_Missense_Mutation_p.P60S|PTK7_ENST00000349241.2_Missense_Mutation_p.P60S|PTK7_ENST00000476760.1_Missense_Mutation_p.P60S|PTK7_ENST00000352931.2_Missense_Mutation_p.P60S|PTK7_ENST00000481273.1_Missense_Mutation_p.P68S	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	60	Ig-like C2-type 1.				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			GGCTCCGGGCCCGGTACATGT	0.657000													11	29					0	0	0.000978159	0	0
BRAF	673	broad.mit.edu	37	7	140481408	140481408	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:140481408G>A	ENST00000288602.6	-	11	1460	c.1400C>T	c.(1399-1401)tCa>tTa	p.S467L		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	467	Protein kinase.		S -> A (in CFC syndrome).		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.S467L(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)	TGTTCCAAATGATCCAGATCC	0.383000		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				17	132					0	0	0.000566183	0	0
CDH22	64405	broad.mit.edu	37	20	44803320	44803320	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:44803320T>G	ENST00000372262.3	-	11	2712	c.2312A>C	c.(2311-2313)cAg>cCg	p.Q771P	CDH22_ENST00000537909.1_Missense_Mutation_p.Q771P	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	771					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				GGCGTAGGTCTGGAAGGCGTC	0.687000													4	3					0	0	0.000602214	0	0
VWC2L	402117	broad.mit.edu	37	2	215279197	215279197	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:215279197C>T	ENST00000312504.5	+	2	1082	c.280C>T	c.(280-282)Cac>Tac	p.H94Y	VWC2L_ENST00000427124.1_Missense_Mutation_p.H94Y|AC107218.3_ENST00000437883.1_RNA|AC107218.3_ENST00000412896.1_RNA	NM_001080500.2	NP_001073969.1	B2RUY7	VWC2L_HUMAN	von Willebrand factor C domain containing protein 2-like	94	VWFC 1.					extracellular region				breast(1)|endometrium(1)|large_intestine(3)|lung(10)|prostate(1)	16						CCCTAAAATTCACCCAAAGTG	0.418000													6	14					0	0	0.00307968	0	0
KRT24	192666	broad.mit.edu	37	17	38859483	38859483	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:38859483G>A	ENST00000264651.2	-	1	519	c.463C>T	c.(463-465)Cta>Tta	p.L155L		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	155	Coil 1A.|Rod.					cytoplasm|intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				ACCTTGTCTAGGTAATTGGCC	0.527000													27	151					0	0	0.00127121	0	0
TRPM6	140803	broad.mit.edu	37	9	77386640	77386640	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:77386640C>T	ENST00000451710.3	-	25	3752	c.3515G>A	c.(3514-3516)cGa>cAa	p.R1172Q	TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000376864.4_Missense_Mutation_p.R1172Q|TRPM6_ENST00000360774.1_Missense_Mutation_p.R1172Q|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000361255.3_Missense_Mutation_p.R1167Q|TRPM6_ENST00000449912.2_Missense_Mutation_p.R1167Q			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1172					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CACTCGGATTCGTTCCTCACA	0.368000													10	51					0	0	0.00136819	0	0
PCDH15	65217	broad.mit.edu	37	10	55944945	55944945	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:55944945G>A	ENST00000373965.2	-	13	1804	c.1410C>T	c.(1408-1410)ctC>ctT	p.L470L	PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000373957.3_Silent_p.L441L|PCDH15_ENST00000373955.1_Silent_p.L463L|PCDH15_ENST00000414778.1_Silent_p.L468L|PCDH15_ENST00000395433.1_Silent_p.L441L|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000361849.3_Silent_p.L463L|PCDH15_ENST00000395446.1_Silent_p.L463L|PCDH15_ENST00000409834.1_Silent_p.L74L|PCDH15_ENST00000395445.1_Silent_p.L470L|PCDH15_ENST00000395438.1_Silent_p.L463L|PCDH15_ENST00000395432.2_Silent_p.L426L|PCDH15_ENST00000320301.6_Silent_p.L463L|PCDH15_ENST00000437009.1_Silent_p.L463L|PCDH15_ENST00000395430.1_Silent_p.L463L	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	463	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)				GAAGTAAGGTGAGGTAGCGAG	0.388000										HNSCC(58;0.16)			8	35					0	0	0.000442599	0	0
MUC4	4585	broad.mit.edu	37	3	195518081	195518081	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:195518081G>A	ENST00000463781.3	-	2	829	c.370C>T	c.(370-372)Ccc>Tcc	p.P124S	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.P124S|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	129					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		ACACTGGAGGGAAATGATGTG	0.453000													6	52					0	0	0.000274275	0	0
SELP	6403	broad.mit.edu	37	1	169576250	169576250	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:169576250C>T	ENST00000263686.6	-	9	1493	c.1456G>A	c.(1456-1458)Gga>Aga	p.G486R	SELP_ENST00000367792.2_Missense_Mutation_p.G424R|SELP_ENST00000367786.2_Missense_Mutation_p.G424R|SELP_ENST00000458599.2_Missense_Mutation_p.G424R|SELP_ENST00000367791.2_Missense_Mutation_p.G362R|SELP_ENST00000367793.2_Missense_Mutation_p.G424R|SELP_ENST00000367794.2_Missense_Mutation_p.G424R|SELP_ENST00000367788.2_Missense_Mutation_p.G424R	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	486	Sushi 5.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	ACACTTGCTCCCACCAGGAGC	0.493000													10	45					0	0	0.000978159	0	0
IFNB1	3456	broad.mit.edu	37	9	21077355	21077355	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:21077355G>A	ENST00000380232.2	-	1	588	c.514C>T	c.(514-516)Cta>Tta	p.L172L		NM_002176.2	NP_002167.1	P01574	IFNB_HUMAN	interferon, beta 1, fibroblast	172					activation of caspase activity|B cell proliferation|blood coagulation|cellular response to exogenous dsRNA|defense response to virus|induction of apoptosis|natural killer cell activation|negative regulation of cell proliferation|negative regulation of T cell differentiation|negative regulation of T-helper 2 cell cytokine production|negative regulation of viral genome replication|negative regulation of viral transcription|negative regulation of virion penetration into host cell|positive regulation of innate immune response|positive regulation of transcription from RNA polymerase II promoter|regulation of MHC class I biosynthetic process|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding|transcription corepressor activity			breast(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)	12				GBM - Glioblastoma multiforme(5;7.45e-142)|Lung(24;2.42e-17)|LUSC - Lung squamous cell carcinoma(38;7.17e-11)	Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068)	AAGTTCCTTAGGATTTCCACT	0.458000													8	19					0	0	0.000978159	0	0
KRTAP3-2	83897	broad.mit.edu	37	17	39155897	39155897	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:39155897G>A	ENST00000391587.1	-	1	241	c.209C>T	c.(208-210)tCc>tTc	p.S70F		NM_031959.2	NP_114165.1	Q9BYR7	KRA32_HUMAN	keratin associated protein 3-2	70						keratin filament	structural molecule activity			endometrium(1)|large_intestine(1)|lung(1)	3		Breast(137;0.00043)				TGGCTGGCAGGAGTTGAGCAG	0.612000													13	51					0	0	0.00316338	0	0
PRAMEF4	400735	broad.mit.edu	37	1	12942972	12942972	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:12942972C>T	ENST00000235349.5	-	2	314	c.244G>A	c.(244-246)Gct>Act	p.A82T		NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN	PRAME family member 4	82										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TCGAGCACAGCTTGGAAGGCC	0.627000													5	26					0	0	0.000602214	0	0
DNAJB2	3300	broad.mit.edu	37	2	220147598	220147598	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:220147598C>T	ENST00000336576.5	+	6	680	c.392C>T	c.(391-393)tCc>tTc	p.S131F	DNAJB2_ENST00000463463.1_3'UTR|DNAJB2_ENST00000392086.4_Missense_Mutation_p.S131F	NM_006736.5	NP_006727.2	P25686	DNJB2_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 2	131					ER-associated protein catabolic process|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of inclusion body assembly|negative regulation of protein deubiquitination|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding|response to unfolded protein	inclusion body	heat shock protein binding|Hsp70 protein binding|polyubiquitin binding|proteasome binding|protein binding|unfolded protein binding			endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14		Renal(207;0.0474)		Epithelial(149;1.97e-06)|all cancers(144;0.00028)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AACCGGGGTTCCCGACACTCA	0.532000													15	56					0	0	0.00074312	0	0
COQ10B	80219	broad.mit.edu	37	2	198327324	198327324	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:198327324C>A	ENST00000263960.2	+	3	454	c.316C>A	c.(316-318)Cct>Act	p.P106T	COQ10B_ENST00000545340.1_Missense_Mutation_p.P63T|COQ10B_ENST00000409010.1_Missense_Mutation_p.P78T|COQ10B_ENST00000409398.1_Missense_Mutation_p.P56T	NM_025147.3	NP_079423.1	Q9H8M1	CQ10B_HUMAN	coenzyme Q10 homolog B (S. cerevisiae)	106						mitochondrial inner membrane				endometrium(1)|large_intestine(2)|lung(3)	6			Epithelial(96;0.231)|OV - Ovarian serous cystadenocarcinoma(117;0.246)			GCATTTTGTTCCTTGGTGCAA	0.323000													26	101					3.65163e-15	1.06833e-14	0.00106085	1	0
SLIT2	9353	broad.mit.edu	37	4	20555568	20555568	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:20555568C>T	ENST00000504154.1	+	26	2954	c.2702C>T	c.(2701-2703)cCc>cTc	p.P901L	SLIT2_ENST00000503823.1_Missense_Mutation_p.P893L|SLIT2_ENST00000503837.1_Missense_Mutation_p.P897L|SLIT2_ENST00000273739.5_Missense_Mutation_p.P905L	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	901	LRRCT 4.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						CTCACAACTCCCTCCAAAAAA	0.358000													13	58					0	0	0.00400662	0	0
PITPNM1	9600	broad.mit.edu	37	11	67269420	67269420	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:67269420G>A	ENST00000356404.3	-	5	778	c.553C>T	c.(553-555)Ccc>Tcc	p.P185S	PITPNM1_ENST00000534749.1_Missense_Mutation_p.P185S|PITPNM1_ENST00000436757.2_Missense_Mutation_p.P185S	NM_001130848.1|NM_004910.2	NP_001124320.1|NP_004901.2	O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	185					brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						CACATAAGGGGCCCCGTCTGT	0.587000													4	17					0	0	0.000602214	0	0
SLC47A2	146802	broad.mit.edu	37	17	19612071	19612071	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:19612071C>T	ENST00000350657.5	-	6	663	c.489G>A	c.(487-489)gtG>gtA	p.V163V	SLC47A2_ENST00000463318.1_5'UTR|SLC47A2_ENST00000325411.5_Silent_p.V163V	NM_001099646.1|NM_001256663.1	NP_001093116.1|NP_001243592.1	Q86VL8	S47A2_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 2	163						integral to membrane|plasma membrane	drug:hydrogen antiporter activity			endometrium(2)|kidney(3)|large_intestine(2)|lung(1)|ovary(1)	9	all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245)					AAAGAAAAATCACCTGTATGA	0.423000													17	53					0	0	0.00152264	0	0
OR51B6	390058	broad.mit.edu	37	11	5373593	5373593	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:5373593A>G	ENST00000380219.1	+	1	856	c.856A>G	c.(856-858)Aac>Gac	p.N286D	HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron	NM_001004750.1	NP_001004750.1	Q9H340	O51B6_HUMAN	olfactory receptor, family 51, subfamily B, member 6	286					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACCTTTTATGAACCCATTTAT	0.388000													20	40					0	0	0.00121646	0	0
MAGEB6	158809	broad.mit.edu	37	X	26212144	26212144	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:26212144C>T	ENST00000379034.1	+	2	330	c.181C>T	c.(181-183)Cct>Tct	p.P61S		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	61	Ser-rich.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						TGCCTCCATTCCTCAGGAGTC	0.532000													5	19					0	0	0.000602214	0	0
SCP2D1	140856	broad.mit.edu	37	20	18794539	18794539	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:18794539C>T	ENST00000377428.2	+	1	170	c.80C>T	c.(79-81)tCa>tTa	p.S27L	C20orf78_ENST00000278779.4_Intron	NM_178483.2	NP_848578.1			SCP2 sterol-binding domain containing 1																		GTTCTGGGTTCAGTTCCAGAA	0.522000													8	36					0	0	0.000274275	0	0
COL23A1	91522	broad.mit.edu	37	5	177690306	177690306	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:177690306C>T	ENST00000390654.3	-	9	899	c.542G>A	c.(541-543)gGa>gAa	p.G181E	COL23A1_ENST00000407622.1_Missense_Mutation_p.G145E	NM_173465.3	NP_775736.2	Q86Y22	CONA1_HUMAN	collagen, type XXIII, alpha 1	181	Collagen-like 1.|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)		CCCAGCAGCTCCATCTTGTCC	0.682000													3	8					0	0	0.000602214	0	0
ABCA3	21	broad.mit.edu	37	16	2354107	2354107	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:2354107C>T	ENST00000301732.5	-	12	2030	c.1330G>A	c.(1330-1332)Gac>Aac	p.D444N	ABCA3_ENST00000382381.3_Missense_Mutation_p.D386N	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	444					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.D444N(1)		breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				AAGTCGTCGTCCACGTTGACG	0.632000													21	45					0	0	0.000720815	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110397839	110397839	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:110397839G>A	ENST00000378402.5	+	6	653	c.549G>A	c.(547-549)ggG>ggA	p.G183G		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	183	IPT/TIG 2.				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)			GCTCAAATGGGAAAAATGTTA	0.299000										HNSCC(38;0.096)			6	64					0	0	0.000274275	0	0
CEACAM19	56971	broad.mit.edu	37	19	45186758	45186758	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:45186758C>T	ENST00000358777.4	+	8	1376	c.896C>T	c.(895-897)tCc>tTc	p.S299F	CTB-171A8.1_ENST00000590796.1_RNA|CEACAM19_ENST00000480278.1_3'UTR|CEACAM19_ENST00000403660.3_Missense_Mutation_p.S300F	NM_001127893.1|NM_020219.3	NP_001121365.1|NP_064604.2	Q7Z692	CEA19_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 19	300						integral to membrane				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	11	Lung NSC(12;0.00308)|all_lung(12;0.00806)	Prostate(69;0.0376)				GTGCCAACTTCCTGATGGGTC	0.632000													11	35					0	0	0.00185496	0	0
PUS7	54517	broad.mit.edu	37	7	105121519	105121519	+	Silent	SNP	G	G	A	rs137934853	byFrequency	TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:105121519G>A	ENST00000356362.2	-	9	1369	c.1155C>T	c.(1153-1155)gtC>gtT	p.V385V	PUS7_ENST00000469408.1_Silent_p.V385V	NM_019042.3	NP_061915.2	Q96PZ0	PUS7_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)	385	TRUD.				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1)	23						GATACGTAGGGACAGCTGTGG	0.363000													16	85					0	0	0.000566183	0	0
GPR112	139378	broad.mit.edu	37	X	135431816	135431816	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:135431816C>T	ENST00000394143.1	+	6	6242	c.5951C>T	c.(5950-5952)cCt>cTt	p.P1984L	GPR112_ENST00000287534.4_Missense_Mutation_p.P1921L|GPR112_ENST00000394141.1_Missense_Mutation_p.P1779L|GPR112_ENST00000412101.1_Missense_Mutation_p.P1779L|GPR112_ENST00000370652.1_Missense_Mutation_p.P1984L	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1984					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TCTGTAACTCCTGGGACCACA	0.433000													10	25					0	0	0.000442599	0	0
SIK3	23387	broad.mit.edu	37	11	116729253	116729253	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:116729253G>A	ENST00000375300.1	-	20	2789	c.2784C>T	c.(2782-2784)ttC>ttT	p.F928F	SIK3_ENST00000488337.1_Intron|SIK3_ENST00000446921.2_Intron|SIK3_ENST00000434315.2_Intron|SIK3_ENST00000375288.1_Intron|SIK3_ENST00000292055.4_Silent_p.F870F|SIK3_ENST00000542607.1_Intron			Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	870	Gln-rich.					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						GGAAGGTGGGGAATTGGTCAA	0.602000													44	183					0	0	0.00361006	0	0
C10orf120	399814	broad.mit.edu	37	10	124457997	124457997	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:124457997C>T	ENST00000329446.4	-	3	291	c.260G>A	c.(259-261)gGt>gAt	p.G87D		NM_001010912.1	NP_001010912.1	Q5SQS8	CJ120_HUMAN	chromosome 10 open reading frame 120	87										endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				GTGAATGCCACCTAGACGCTG	0.488000													60	123					0	0	0.00361006	0	0
MAN2C1	4123	broad.mit.edu	37	15	75652945	75652945	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:75652945G>A	ENST00000565683.1	-	13	1556	c.1545C>T	c.(1543-1545)ttC>ttT	p.F515F	MAN2C1_ENST00000267978.5_Silent_p.F515F|MAN2C1_ENST00000563622.1_Silent_p.F416F|MAN2C1_ENST00000569482.1_Silent_p.F515F	NM_001256494.1	NP_001243423.1	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	515					mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding			central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						GCAGCTCCAAGAAGAGCTCCC	0.587000													6	47					0	0	0.00116845	0	0
ITGB4	3691	broad.mit.edu	37	17	73725388	73725388	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:73725388C>T	ENST00000200181.3	+	7	796	c.609C>T	c.(607-609)ttC>ttT	p.F203F	ITGB4_ENST00000339591.3_Silent_p.F203F|ITGB4_ENST00000450894.3_Silent_p.F203F|ITGB4_ENST00000449880.2_Silent_p.F203F|ITGB4_ENST00000579662.1_Silent_p.F203F|ITGB4_ENST00000584558.1_3'UTR	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	203	VWFA.				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCTTCTCCTTCAAGAACGTCA	0.607000													23	19					0	0	0.00127121	0	0
EXTL3	2137	broad.mit.edu	37	8	28573693	28573693	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:28573693C>T	ENST00000220562.4	+	3	1019	c.117C>T	c.(115-117)atC>atT	p.I39I	EXTL3_ENST00000523149.1_Intron|EXTL3_ENST00000519886.1_Intron	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	39						integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		TCTTTGTCATCCTGGTCTTCT	0.617000													9	32					0	0	0.000978159	0	0
SELP	6403	broad.mit.edu	37	1	169586560	169586560	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:169586560G>A	ENST00000263686.6	-	3	224	c.187C>T	c.(187-189)Cgc>Tgc	p.R63C	SELP_ENST00000367792.2_Missense_Mutation_p.R63C|SELP_ENST00000367786.2_Missense_Mutation_p.R63C|SELP_ENST00000458599.2_Missense_Mutation_p.R63C|SELP_ENST00000367791.2_Missense_Mutation_p.R63C|SELP_ENST00000367793.2_Missense_Mutation_p.R63C|SELP_ENST00000367794.2_Missense_Mutation_p.R63C|SELP_ENST00000367788.2_Missense_Mutation_p.R63C	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	63	C-type lectin.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding	p.R63C(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	TCTGTGTAGCGATTCTGGCAG	0.403000													19	60					0	0	0.00188189	0	0
TRANK1	9881	broad.mit.edu	37	3	36873921	36873921	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:36873921C>T	ENST00000301807.6	-	21	7268	c.5371G>A	c.(5371-5373)Ggg>Agg	p.G1791R	TRANK1_ENST00000428977.2_Missense_Mutation_p.G1791R|TRANK1_ENST00000429976.2_Missense_Mutation_p.G2341R	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2341					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CCAAATTTCCCTTCTATTCCT	0.483000													14	59					0	0	0.00185496	0	0
CHST11	50515	broad.mit.edu	37	12	105151427	105151427	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:105151427C>T	ENST00000303694.5	+	3	1344	c.905C>T	c.(904-906)cCc>cTc	p.P302L	CHST11_ENST00000549260.1_Missense_Mutation_p.P297L	NM_018413.5	NP_060883.1	Q9NPF2	CHSTB_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 11	302					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						CTGAAGTTCCCCACCTATGCA	0.493000													9	30					0	0	0.000442599	0	0
RAC1	5879	broad.mit.edu	37	7	6426892	6426892	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:6426892C>T	ENST00000348035.4	+	2	298	c.85C>T	c.(85-87)Cct>Tct	p.P29S	RAC1_ENST00000488373.1_3'UTR|RAC1_ENST00000356142.4_Missense_Mutation_p.P29S	NM_006908.4	NP_008839.2	P63000	RAC1_HUMAN	ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)	29					actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of lamellipodium assembly|positive regulation of Rho protein signal transduction|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|T cell costimulation|viral reproduction	cytosol|melanosome|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding	p.P29S(1)		cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	Pravastatin(DB00175)|Simvastatin(DB00641)	CAATGCATTTCCTGGAGAATA	0.353000													29	172					0	0	0.0024448	0	0
NOB1	28987	broad.mit.edu	37	16	69782979	69782979	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:69782979C>A	ENST00000268802.5	-	6	597	c.568G>T	c.(568-570)Gaa>Taa	p.E190*		NM_014062.1	NP_054781.1	Q9ULX3	NOB1_HUMAN	NIN1/RPN12 binding protein 1 homolog (S. cerevisiae)	190	Poly-Glu.					nucleus	metal ion binding|protein binding			breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CCGTTTTCTTCCTCCTCCTCC	0.517000													14	37					6.94344e-10	2.02414e-09	0.00074312	1	0
LAMA2	3908	broad.mit.edu	37	6	129636758	129636758	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:129636758A>T	ENST00000421865.2	+	25	3742	c.3693A>T	c.(3691-3693)gaA>gaT	p.E1231D		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1231	Laminin IV type A 2.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TCCATTTGGAACCTTTTTATT	0.393000													14	45					0	0	0.00400662	0	0
OR52N2	390077	broad.mit.edu	37	11	5841884	5841884	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:5841884C>T	ENST00000317037.2	+	1	341	c.319C>T	c.(319-321)Cat>Tat	p.H107Y	TRIM5_ENST00000380027.1_Intron	NM_001005174.1	NP_001005174.1	Q8NGI0	O52N2_HUMAN	olfactory receptor, family 52, subfamily N, member 2	107					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTTTTTTGTCCATATGCTGAC	0.517000													20	18					0	0	0.00229938	0	0
GIMAP6	474344	broad.mit.edu	37	7	150325450	150325450	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:150325450G>A	ENST00000328902.5	-	3	452	c.236C>T	c.(235-237)tCc>tTc	p.S79F	GIMAP6_ENST00000493969.1_Intron	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	79							GTP binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCGTCTCTGGGAGGTCTTGGT	0.582000													13	91					0	0	0.00316338	0	0
TP53INP1	94241	broad.mit.edu	37	8	95952372	95952372	+	Silent	SNP	A	A	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:95952372A>G	ENST00000342697.4	-	3	596	c.189T>C	c.(187-189)ccT>ccC	p.P63P	NDUFAF6_ENST00000396113.1_Intron|TP53INP1_ENST00000448464.2_Silent_p.P63P|TP53INP1_ENST00000378776.4_Silent_p.P63P	NM_033285.3	NP_150601.1	Q96A56	T53I1_HUMAN	tumor protein p53 inducible nuclear protein 1	63					apoptosis	PML body				kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	9	Breast(36;8.75e-07)					AAAAGACTGAAGGGTGCTCAG	0.468000													38	337					0	0	0.00285205	0	0
KLKB1	3818	broad.mit.edu	37	4	187175746	187175746	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:187175746C>T	ENST00000264690.6	+	12	1505	c.1318C>T	c.(1318-1320)Ccc>Tcc	p.P440S	KLKB1_ENST00000513864.1_Missense_Mutation_p.P440S	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	440	Peptidase S1.				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)		TCCTAGGCTTCCCCTGCAGGA	0.383000													38	47					0	0	0.0025221	0	0
CLDN4	1364	broad.mit.edu	37	7	73245869	73245869	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:73245869C>T	ENST00000435050.1	+	2	3018	c.338C>T	c.(337-339)gCc>gTc	p.A113V	CLDN4_ENST00000340958.2_Missense_Mutation_p.A113V|CLDN4_ENST00000431918.1_Missense_Mutation_p.A113V			O14493	CLD4_HUMAN	claudin 4	113					calcium-independent cell-cell adhesion	integral to plasma membrane|tight junction	identical protein binding|structural molecule activity|transmembrane receptor activity			kidney(2)|lung(4)|urinary_tract(1)	7		Lung NSC(55;0.159)				GATGAAAGCGCCAAGGCCAAG	0.622000													7	27					0	0	0.000274275	0	0
DNAH7	56171	broad.mit.edu	37	2	196825552	196825552	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:196825552C>T	ENST00000312428.6	-	18	2423	c.2323G>A	c.(2323-2325)Gaa>Aaa	p.E775K		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	775	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CTGCTAAATTCGACAGCAGTT	0.393000													40	87					0	0	0.00170553	0	0
IL17A	3605	broad.mit.edu	37	6	52052459	52052459	+	Missense_Mutation	SNP	G	G	A	rs144233360	byFrequency	TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:52052459G>A	ENST00000340057.1	+	2	131	c.86G>A	c.(85-87)cGa>cAa	p.R29Q		NM_002190.2	NP_002181.1	Q16552	IL17_HUMAN	interleukin 17A	29					apoptosis|cell-cell signaling|fibroblast activation|immune response|inflammatory response|positive regulation of interleukin-23 production|positive regulation of osteoclast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein glycosylation	extracellular space	cytokine activity			endometrium(3)|large_intestine(2)|lung(8)|prostate(3)|skin(1)	17	Lung NSC(77;0.116)					ACAATCCCACGAAATCCAGGA	0.483000													18	106					0	0	0.00121646	0	0
CFTR	1080	broad.mit.edu	37	7	117175444	117175444	+	Missense_Mutation	SNP	G	G	A	rs121908804		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:117175444G>A	ENST00000003084.6	+	6	854	c.722G>A	c.(721-723)gGg>gAg	p.G241E	CFTR_ENST00000454343.1_Missense_Mutation_p.G241E	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	241	ABC transmembrane type-1 1.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	GCTGGGCTAGGGAGAATGATG	0.433000									Cystic Fibrosis				10	66					0	0	0.00136819	0	0
BIVM-ERCC5	100533467	broad.mit.edu	37	13	103459777	103459777	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr13:103459777C>T	ENST00000602836.1	+	1	74	c.74C>T	c.(73-75)tCc>tTc	p.S25F	BIVM_ENST00000448849.2_Intron|BIVM_ENST00000257336.1_Missense_Mutation_p.P54S|BIVM_ENST00000419638.1_Missense_Mutation_p.P54S	NM_001204425.1	NP_001191354.1	Q59FZ7	Q59FZ7_HUMAN		0					nucleotide-excision repair	nucleus	endonuclease activity|single-stranded DNA binding										TGGTCATTATCCATGGAGTTG	0.448000													10	28					0	0	0.00244969	0	0
MFNG	4242	broad.mit.edu	37	22	37876306	37876306	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr22:37876306C>T	ENST00000356998.3	-	3	559	c.336G>A	c.(334-336)gcG>gcA	p.A112A	MFNG_ENST00000416983.3_Silent_p.A98A	NM_002405.3	NP_002396.2	O00587	MFNG_HUMAN	MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	112					pattern specification process	extracellular space|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity			large_intestine(2)|lung(2)|skin(1)	5	Melanoma(58;0.0574)					GGCTGTGTTCCGCGGAGCAGT	0.602000													6	26					0	0	0.00116845	0	0
CCDC125	202243	broad.mit.edu	37	5	68578698	68578698	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:68578698G>A	ENST00000396496.2	-	12	1501	c.1394C>T	c.(1393-1395)tCt>tTt	p.S465F	CCDC125_ENST00000460090.1_5'UTR|CCDC125_ENST00000396499.1_Missense_Mutation_p.S465F|CCDC125_ENST00000383374.2_3'UTR|CCDC125_ENST00000511257.1_Missense_Mutation_p.S340F			Q86Z20	CC125_HUMAN	coiled-coil domain containing 125	465						cytoplasm				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|urinary_tract(1)	19		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.2e-56)|Epithelial(20;2.31e-52)|all cancers(19;5.85e-48)|Lung(70;0.0183)		ACCCAAAACAGAGAATTCTGA	0.368000													20	91					0	0	0.00332997	0	0
SLC9C1	285335	broad.mit.edu	37	3	111898545	111898545	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:111898545C>T	ENST00000305815.5	-	23	3004	c.2752G>A	c.(2752-2754)Gaa>Aaa	p.E918K	SLC9C1_ENST00000487372.1_Missense_Mutation_p.E870K	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	918					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										TTTGATTTTTCAAGCTGTTCA	0.333000													12	45					0	0	0.00185496	0	0
PLEKHO1	51177	broad.mit.edu	37	1	150131292	150131292	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:150131292C>T	ENST00000369124.4	+	6	1082	c.804C>T	c.(802-804)cgC>cgT	p.R268R	PLEKHO1_ENST00000369126.1_Silent_p.R85R|PLEKHO1_ENST00000025469.6_Silent_p.R234R	NM_016274.4	NP_057358.2	Q53GL0	PKHO1_HUMAN	pleckstrin homology domain containing, family O member 1	268	Interaction with ATM, CKIP, IFP35 and NMI.					cytoplasm|nucleus|plasma membrane				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	22	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGAAAGGCCGCTGCGCCTCCC	0.647000													5	15					0	0	0.00198382	0	0
NT5DC3	51559	broad.mit.edu	37	12	104171643	104171643	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:104171643G>A	ENST00000392876.3	-	14	1651	c.1611C>T	c.(1609-1611)ttC>ttT	p.F537F		NM_001031701.2	NP_001026871.1	Q86UY8	NT5D3_HUMAN	5'-nucleotidase domain containing 3	537							hydrolase activity|metal ion binding			NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						GAGGGGTTCCGAAGGTGGGGG	0.587000													18	26					0	0	0.00121646	0	0
TENM2	57451	broad.mit.edu	37	5	167645621	167645621	+	Silent	SNP	T	T	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:167645621T>A	ENST00000519204.1	+	22	4480	c.4362T>A	c.(4360-4362)ccT>ccA	p.P1454P	TENM2_ENST00000403607.2_Silent_p.P1399P|TENM2_ENST00000520394.1_Silent_p.P1336P|TENM2_ENST00000518659.1_Silent_p.P1575P|TENM2_ENST00000545108.1_Silent_p.P1574P					teneurin transmembrane protein 2																		AGAACAAGCCTGTTCTTAATG	0.483000													14	98					0	0	0.00244969	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43945032	43945032	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:43945032G>A	ENST00000389420.3	-	2	132	c.133C>T	c.(133-135)Ccc>Tcc	p.P45S	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.P45S	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	45						proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		ACCCGCTCGGGGATCACTACT	0.577000													8	18					0	0	0.000442599	0	0
SPPL3	121665	broad.mit.edu	37	12	121248634	121248634	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:121248634G>A	ENST00000353487.2	-	2	582	c.79C>T	c.(79-81)Ctt>Ttt	p.L27F		NM_139015.4	NP_620584.2	Q8TCT6	PSL4_HUMAN	signal peptide peptidase like 3	27						integral to membrane	aspartic-type endopeptidase activity					all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TAGACTATAAGAAGAATGGAA	0.393000													23	78					0	0	0.00178596	0	0
RANBP10	57610	broad.mit.edu	37	16	67765479	67765479	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:67765479G>A	ENST00000317506.3	-	7	900	c.785C>T	c.(784-786)tCa>tTa	p.S262L	RANBP10_ENST00000425512.2_Missense_Mutation_p.S130L|RANBP10_ENST00000536251.1_Missense_Mutation_p.S33L|RANBP10_ENST00000411657.2_Missense_Mutation_p.S145L|RANBP10_ENST00000602677.1_Missense_Mutation_p.S262L|RANBP10_ENST00000448631.2_Missense_Mutation_p.S206L	NM_020850.1	NP_065901.1	Q6VN20	RBP10_HUMAN	RAN binding protein 10	262	LisH.									endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		GAGGTAAGATGAAACCATGCT	0.493000													6	9					0	0	0.00116845	0	0
CAMSAP2	23271	broad.mit.edu	37	1	200822453	200822453	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:200822453G>A	ENST00000358823.2	+	13	3923	c.3653G>A	c.(3652-3654)aGa>aAa	p.R1218K	CAMSAP2_ENST00000413307.2_Missense_Mutation_p.R1202K|CAMSAP2_ENST00000236925.4_Missense_Mutation_p.R1229K	NM_203459.1	NP_982284.1	Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	1229						cytoplasm|microtubule	protein binding										AGAGCACGCAGAGAATTTATT	0.368000													18	67					0	0	0.00121646	0	0
COL21A1	81578	broad.mit.edu	37	6	56021727	56021727	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:56021727C>T	ENST00000244728.5	-	10	1789	c.1392G>A	c.(1390-1392)ggG>ggA	p.G464G	COL21A1_ENST00000535941.1_Silent_p.G464G|COL21A1_ENST00000370819.1_Silent_p.G461G	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	464	Collagen-like 1.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			AGCCAGGGTTCCCAGGCAGTC	0.458000													4	10					0	0	0.00024832	0	0
HRNR	388697	broad.mit.edu	37	1	152187501	152187501	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:152187501C>T	ENST00000368801.2	-	3	6679	c.6604G>A	c.(6604-6606)Ggg>Agg	p.G2202R	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2202					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGCCAGACCCATGTTGGCCG	0.622000													8	173					0	0	0.00136819	0	0
PKP2	5318	broad.mit.edu	37	12	33031083	33031083	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:33031083G>A	ENST00000340811.4	-	3	839	c.731C>T	c.(730-732)cCc>cTc	p.P244L	PKP2_ENST00000070846.6_Missense_Mutation_p.P244L	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN	plakophilin 2	244					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					CCCTGGCCTGGGGTACGTGAG	0.622000													4	26					0	0	0.000602214	0	0
FRS3	10817	broad.mit.edu	37	6	41738703	41738703	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:41738703G>A	ENST00000373018.3	-	7	1384	c.1133C>T	c.(1132-1134)gCc>gTc	p.A378V	FRS3_ENST00000259748.2_Missense_Mutation_p.A378V	NM_006653.3	NP_006644.1	O43559	FRS3_HUMAN	fibroblast growth factor receptor substrate 3	378					fibroblast growth factor receptor signaling pathway	plasma membrane	fibroblast growth factor receptor binding|insulin receptor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GCGGATGGCGGCCCGGGTGCT	0.672000													29	40					0	0	0.00283554	0	0
USP2	9099	broad.mit.edu	37	11	119243660	119243660	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:119243660C>T	ENST00000260187.2	-	2	825	c.531G>A	c.(529-531)aaG>aaA	p.K177K	USP2_ENST00000455332.2_Intron|RP11-334E6.3_ENST00000530918.2_RNA	NM_004205.4	NP_004196.4	O75604	UBP2_HUMAN	ubiquitin specific peptidase 2	177	Necessary for interaction with MDM4.				cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process	nucleus|perinuclear region of cytoplasm	cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		TGCAGAGCTCCTTGCGCGTCC	0.637000													12	33					0	0	0.00244969	0	0
NIPAL1	152519	broad.mit.edu	37	4	48038100	48038100	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:48038100G>A	ENST00000295461.5	+	6	1210	c.1144G>A	c.(1144-1146)Gaa>Aaa	p.E382K		NM_207330.1	NP_997213.1	Q6NVV3	NIPA3_HUMAN	NIPA-like domain containing 1	382						integral to membrane				endometrium(2)|large_intestine(1)|lung(3)|skin(2)	8						GAATGTCAATGAAAACAATTA	0.383000													9	35					0	0	0.000673444	0	0
PXMP4	11264	broad.mit.edu	37	20	32298409	32298409	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:32298409G>A	ENST00000217398.3	-	3	449	c.347C>T	c.(346-348)tCc>tTc	p.S116F	PXMP4_ENST00000344022.3_Intron|PXMP4_ENST00000409299.3_Silent_p.F109F			Q9Y6I8	PXMP4_HUMAN	peroxisomal membrane protein 4, 24kDa	0						integral to membrane|membrane fraction|mitochondrial inner membrane|peroxisomal membrane	protein transporter activity			NS(1)|endometrium(2)|large_intestine(2)|lung(8)	13						TACCCCCGAGGAAGGCCGCCA	0.557000													5	36					0	0	0.00198382	0	0
SCN1A	6323	broad.mit.edu	37	2	166900335	166900335	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:166900335G>A	ENST00000423058.2	-	11	1904	c.1887C>T	c.(1885-1887)tcC>tcT	p.S629S	AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000409050.1_Silent_p.S629S|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000375405.3_Silent_p.S629S|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000303395.4_Silent_p.S629S	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	629						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	CCAGCATCCGGGATGACCTAC	0.537000													6	30					0	0	0.00198382	0	0
DDX41	51428	broad.mit.edu	37	5	176940065	176940065	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:176940065C>T	ENST00000507955.1	-	12	1772	c.1249G>A	c.(1249-1251)Gag>Aag	p.E417K		NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 41	417	Helicase C-terminal.				apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding					all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			TTGGCCTCCTCCTTCACATAT	0.612000													30	57					0	0	0.00327116	0	0
MRPS35	60488	broad.mit.edu	37	12	27908299	27908299	+	Silent	SNP	T	T	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:27908299T>G	ENST00000081029.3	+	8	959	c.888T>G	c.(886-888)gtT>gtG	p.V296V	MRPS35_ENST00000538315.1_3'UTR	NM_021821.3	NP_068593.2	P82673	RT35_HUMAN	mitochondrial ribosomal protein S35	296					DNA damage response, detection of DNA damage	mitochondrial small ribosomal subunit				breast(1)|endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	6	Lung SC(9;0.0873)					AAAAGTCTGTTGTTAGTCTTA	0.328000													43	185					0	0	0.00285205	0	0
BCL2L12	83596	broad.mit.edu	37	19	50169110	50169110	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:50169110C>T	ENST00000246785.3	+	1	288	c.30C>T	c.(28-30)ccC>ccT	p.P10P	IRF3_ENST00000377139.3_5'UTR|BCL2L12_ENST00000441864.2_Silent_p.P10P|IRF3_ENST00000597198.1_5'UTR|BCL2L12_ENST00000246784.3_Silent_p.P10P	NM_001040668.1|NM_138639.1	NP_001035758.1|NP_619580.1	Q9HB09	B2L12_HUMAN	BCL2-like 12 (proline rich)	10					apoptosis					central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	8		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.000681)|GBM - Glioblastoma multiforme(134;0.0214)		TGTTCCCGCCCCTATGCCCTT	0.537000													8	52					0	0	0.00185496	0	0
HTT	3064	broad.mit.edu	37	4	3136170	3136170	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:3136170G>A	ENST00000355072.5	+	19	2681	c.2536G>A	c.(2536-2538)Gga>Aga	p.G846R		NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	846					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)		CAGTGAGTTAGGACTGCAGCT	0.517000													24	83					0	0	0.00395357	0	0
SH2D1A	4068	broad.mit.edu	37	X	123480514	123480514	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:123480514C>T	ENST00000371139.4	+	1	321	c.22C>T	c.(22-24)Cat>Tat	p.H8Y	SH2D1A_ENST00000360027.4_Missense_Mutation_p.H8Y|SH2D1A_ENST00000470647.1_3'UTR|STAG2_ENST00000469481.1_Intron	NM_001114937.2|NM_002351.4	NP_001108409.1|NP_002342.1	O60880	SH21A_HUMAN	SH2 domain containing 1A	8	SH2.		H -> D (in XLP1).		cell-cell signaling|cellular defense response	cytoplasm	SH3/SH2 adaptor activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						GGCTGTGTATCATGGCAAAAT	0.602000													11	28					0	0	0.00136819	0	0
ZSCAN4	201516	broad.mit.edu	37	19	58190018	58190018	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:58190018C>T	ENST00000318203.5	+	5	1744	c.1047C>T	c.(1045-1047)ttC>ttT	p.F349F		NM_152677.2	NP_689890.1	Q8NAM6	ZSCA4_HUMAN	zinc finger and SCAN domain containing 4	349					telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AAAAAGGCTTCTTCCAGATAT	0.443000													20	46					0	0	0.000958276	0	0
XKR4	114786	broad.mit.edu	37	8	56436505	56436505	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:56436505G>A	ENST00000327381.5	+	3	1772	c.1672G>A	c.(1672-1674)Gac>Aac	p.D558N		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	558						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			TGTTGTCAGCGACCGCGATCA	0.587000													9	44					0	0	0.000978159	0	0
SWT1	54823	broad.mit.edu	37	1	185143738	185143738	+	Silent	SNP	T	T	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:185143738T>C	ENST00000367500.4	+	5	624	c.459T>C	c.(457-459)agT>agC	p.S153S	SWT1_ENST00000367501.3_Silent_p.S153S	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN	SWT1 RNA endoribonuclease homolog (S. cerevisiae)	153										breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						GCCTTAGTAGTCCTAAGATTG	0.368000													9	63					0	0	0.000442599	0	0
LRIT2	340745	broad.mit.edu	37	10	85984273	85984273	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:85984273G>A	ENST00000372113.4	-	2	713	c.708C>T	c.(706-708)tcC>tcT	p.S236S	LRIT2_ENST00000538192.1_Silent_p.S236S	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	236	LRRCT.					integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						GCCCTGCCTTGGACAGAGGGC	0.517000													7	52					0	0	0.000274275	0	0
SNORD115-43	100033817	broad.mit.edu	37	15	25494349	25494349	+	RNA	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:25494349C>T	ENST00000365503.1	+	0	5					NR_003303.1|NR_003344.1|NR_003351.1|NR_003358.1																						TTGATTGGGTCAATGATGAGA	0.507000													30	156					0	0	0.0024448	0	0
ABCC11	85320	broad.mit.edu	37	16	48261816	48261816	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:48261816C>T	ENST00000394747.1	-	3	645	c.296G>A	c.(295-297)tGg>tAg	p.W99*	ABCC11_ENST00000394748.1_Nonsense_Mutation_p.W99*|ABCC11_ENST00000356608.2_Nonsense_Mutation_p.W99*|ABCC11_ENST00000353782.5_Nonsense_Mutation_p.W99*|ABCC11_ENST00000537808.1_Nonsense_Mutation_p.W99*	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	99						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)				CGGGGTGAGCCATGACACGGT	0.527000													14	41					0	0	0.00244969	0	0
BAI3	577	broad.mit.edu	37	6	69758097	69758097	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:69758097C>T	ENST00000370598.1	+	14	2949	c.2128C>T	c.(2128-2130)Cct>Tct	p.P710S		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	710					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TCAGAAGCTTCCTGCAGCCTC	0.358000													25	102					0	0	0.000720815	0	0
KIF13B	23303	broad.mit.edu	37	8	28997989	28997989	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:28997989C>T	ENST00000524189.1	-	20	2518	c.2480G>A	c.(2479-2481)gGa>gAa	p.G827E	CTD-2647L4.1_ENST00000517632.1_RNA|CTD-2647L4.1_ENST00000523661.1_RNA	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	827					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)		ACCAACCTCTCCTTTCTGGTT	0.413000													6	42					0	0	0.00198382	0	0
STYK1	55359	broad.mit.edu	37	12	10786678	10786678	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:10786678A>C	ENST00000075503.3	-	4	618	c.98T>G	c.(97-99)tTg>tGg	p.L33W		NM_018423.2	NP_060893.2	Q6J9G0	STYK1_HUMAN	serine/threonine/tyrosine kinase 1	33						integral to membrane|plasma membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						GATAGTAACCAACAAAGTTGG	0.453000										HNSCC(73;0.22)			26	101					0	0	0.00106085	0	0
STAB2	55576	broad.mit.edu	37	12	104056728	104056728	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:104056728C>T	ENST00000388887.2	+	18	2178	c.1974C>T	c.(1972-1974)gtC>gtT	p.V658V		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	658					angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CCTCCATTGTCCCGATTCTGC	0.448000													14	65					0	0	0.00121646	0	0
DPY19L1	23333	broad.mit.edu	37	7	35050162	35050162	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:35050162G>A	ENST00000310974.4	-	6	607	c.463C>T	c.(463-465)Cct>Tct	p.P155S		NM_015283.1	NP_056098.1	Q2PZI1	D19L1_HUMAN	dpy-19-like 1 (C. elegans)	155						integral to membrane				endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	31						AAGCAAGCAGGATCTCCCAAT	0.264000													17	95					0	0	0.000566183	0	0
DDHD1	80821	broad.mit.edu	37	14	53560128	53560128	+	Silent	SNP	C	C	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:53560128C>A	ENST00000357758.3	-	3	1230	c.1047G>T	c.(1045-1047)gtG>gtT	p.V349V	DDHD1_ENST00000323669.5_Silent_p.V349V|DDHD1_ENST00000395606.1_Silent_p.V356V	NM_030637.2	NP_085140.2	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	349					lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					TGTGCCAGTCCACATGGTTTC	0.338000													20	71					5.26018e-13	1.53746e-12	0.00188189	1	0
ST6GAL2	84620	broad.mit.edu	37	2	107459876	107459876	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:107459876C>T	ENST00000409382.3	-	2	1168	c.558G>A	c.(556-558)ttG>ttA	p.L186L	ST6GAL2_ENST00000361686.4_Silent_p.L186L|ST6GAL2_ENST00000409087.3_Silent_p.L186L	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	186					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						CGCCCTCCTCCAACACGTGGC	0.652000													13	24					0	0	0.00185496	0	0
GRM7	2917	broad.mit.edu	37	3	7494383	7494383	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:7494383C>T	ENST00000486284.1	+	6	1538	c.1264C>T	c.(1264-1266)Ctt>Ttt	p.L422F	GRM7_ENST00000403881.1_Missense_Mutation_p.L422F|GRM7_ENST00000402647.2_Missense_Mutation_p.L422F|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000389336.4_Missense_Mutation_p.L422F|GRM7_ENST00000357716.4_Missense_Mutation_p.L422F	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	422					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	GGCTCACGCCCTTCACCACAT	0.488000													5	15					0	0	0.00116845	0	0
ERN2	10595	broad.mit.edu	37	16	23718080	23718080	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:23718080C>T	ENST00000256797.4	-	6	794	c.626G>A	c.(625-627)cGa>cAa	p.R209Q	ERN2_ENST00000457008.2_Missense_Mutation_p.R161Q	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signaling 2	161					apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		CTCACGTGTTCGGCCAATGTA	0.587000													10	34					0	0	0.00244969	0	0
PTPRT	11122	broad.mit.edu	37	20	40827919	40827919	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:40827919C>T	ENST00000373198.3	-	17	2753	c.2518G>A	c.(2518-2520)Gaa>Aaa	p.E840K	PTPRT_ENST00000356100.2_Missense_Mutation_p.E827K|PTPRT_ENST00000373184.1_Missense_Mutation_p.E808K|PTPRT_ENST00000373190.1_Missense_Mutation_p.E818K|PTPRT_ENST00000373193.3_Missense_Mutation_p.E821K|PTPRT_ENST00000373201.1_Missense_Mutation_p.E808K|PTPRT_ENST00000373187.1_Missense_Mutation_p.E818K	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	818					homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GAGAAGCCTTCATCATTGCGG	0.567000													24	130					0	0	0.001512	0	0
LGR4	55366	broad.mit.edu	37	11	27393943	27393943	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:27393943G>A	ENST00000379214.4	-	16	1825	c.1382C>T	c.(1381-1383)tCt>tTt	p.S461F	LGR4_ENST00000389858.4_Missense_Mutation_p.S437F	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	461						integral to membrane|plasma membrane	protein-hormone receptor activity			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						TACTGATAAAGACCTGGAAAA	0.378000													10	48					0	0	0.000978159	0	0
FLNC	2318	broad.mit.edu	37	7	128488697	128488697	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:128488697C>T	ENST00000325888.8	+	27	4924	c.4663C>T	c.(4663-4665)Cct>Tct	p.P1555S	FLNC_ENST00000346177.6_Missense_Mutation_p.P1555S	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1555					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CTCTGGCATCCCTGCCAGCCT	0.642000													11	106					0	0	0.000978159	0	0
STAP1	26228	broad.mit.edu	37	4	68441174	68441174	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:68441174G>A	ENST00000265404.2	+	3	346	c.264G>A	c.(262-264)gcG>gcA	p.A88A	STAP1_ENST00000396225.1_Silent_p.A88A	NM_012108.2	NP_036240.1	Q9ULZ2	STAP1_HUMAN	signal transducing adaptor family member 1	88	PH.				cellular membrane fusion|intracellular protein transport	cytoplasm				NS(1)|large_intestine(1)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	12						AGAACTGTGCGAAATTCACCC	0.388000													11	30					0	0	0.00244969	0	0
LRP6	4040	broad.mit.edu	37	12	12277576	12277576	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:12277576G>A	ENST00000261349.4	-	22	4546	c.4470C>T	c.(4468-4470)tcC>tcT	p.S1490S	LRP6_ENST00000543091.1_Silent_p.S1445S|BCL2L14_ENST00000396369.1_Intron	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1490					cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				CTGTGGCTGGGGATGGTGGAG	0.333000													131	152					0	0	0.00361006	0	0
KCNQ5	56479	broad.mit.edu	37	6	73879529	73879529	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:73879529C>T	ENST00000342056.2	+	12	1984	c.1586C>T	c.(1585-1587)tCa>tTa	p.S529L	KCNQ5_ENST00000414165.2_Intron|KCNQ5_ENST00000355635.3_Missense_Mutation_p.S511L|KCNQ5_ENST00000370398.1_Missense_Mutation_p.S510L|KCNQ5_ENST00000403813.2_Missense_Mutation_p.S501L|KCNQ5_ENST00000402622.2_Missense_Mutation_p.S520L|KCNQ5_ENST00000355194.4_Missense_Mutation_p.S510L	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	510					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		TGTGATGTATCAGTGGAAGAC	0.418000													6	35					0	0	0.00116845	0	0
PRUNE2	158471	broad.mit.edu	37	9	79324317	79324317	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:79324317G>A	ENST00000428286.1	-	8	2996	c.1796C>T	c.(1795-1797)tCg>tTg	p.S599L	PRUNE2_ENST00000376718.3_Missense_Mutation_p.S958L			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	958					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GGAAGGCACCGAATCTTCTCC	0.423000													9	58					0	0	0.000442599	0	0
MYH3	4621	broad.mit.edu	37	17	10555830	10555830	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:10555830G>A	ENST00000583535.1	-	4	342	c.255C>T	c.(253-255)ttC>ttT	p.F85F	MYH3_ENST00000226209.7_Silent_p.F85F	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	85	Myosin head-like.				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						CGATCCTGTCGAACTTGGGGG	0.517000													59	32					0	0	0.00361006	0	0
RFX4	5992	broad.mit.edu	37	12	107155102	107155102	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:107155102C>T	ENST00000392842.1	+	18	2477	c.2063C>T	c.(2062-2064)cCg>cTg	p.P688L	RFX4_ENST00000357881.4_Missense_Mutation_p.P697L|RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000229387.5_Missense_Mutation_p.P594L	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	688					transcription, DNA-dependent	nucleus	DNA binding			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						TACACAAGCCCGTCTGTGCAT	0.532000													9	33					0	0	0.000673444	0	0
PDPK1	5170	broad.mit.edu	37	16	2647217	2647217	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:2647217C>T	ENST00000342085.4	+	13	1644	c.1495C>T	c.(1495-1497)Cct>Tct	p.P499S	PDPK1_ENST00000389224.3_Missense_Mutation_p.P472S|PDPK1_ENST00000354836.5_Missense_Mutation_p.P475S|PDPK1_ENST00000268673.7_Missense_Mutation_p.P372S|PDPK1_ENST00000441549.3_Intron	NM_002613.4	NP_002604.1	O15530	PDPK1_HUMAN	3-phosphoinositide dependent protein kinase-1	499	PH.				actin cytoskeleton organization|activation of protein kinase B activity|insulin receptor signaling pathway|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|peptidyl-threonine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|synaptic transmission|T cell costimulation|T cell receptor signaling pathway	cytosol|nucleoplasm|plasma membrane	3-phosphoinositide-dependent protein kinase activity|ATP binding			central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	7		Ovarian(90;0.17)			Celecoxib(DB00482)	AGGTGAAATTCCTTGGTCACA	0.448000													27	65					0	0	0.001512	0	0
CD244	51744	broad.mit.edu	37	1	160801180	160801180	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:160801180C>T	ENST00000368034.4	-	9	1232	c.1055G>A	c.(1054-1056)cGa>cAa	p.R352Q	CD244_ENST00000322302.7_Missense_Mutation_p.R260Q|CD244_ENST00000368033.3_Missense_Mutation_p.R357Q	NM_001166663.1|NM_001166664.1|NM_016382.3	NP_001160135.1|NP_001160136.1|NP_057466.1	Q9BZW8	CD244_HUMAN	CD244 molecule, natural killer cell receptor 2B4	357					blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	18	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			GCGGCTCAATCGAGCAGGGTT	0.463000													47	83					0	0	0.00361006	0	0
LAIR1	3903	broad.mit.edu	37	19	54868146	54868146	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:54868146G>A	ENST00000391743.3	-	5	763	c.483C>T	c.(481-483)ctC>ctT	p.L161L	LAIR1_ENST00000434277.2_Silent_p.L178L|LAIR1_ENST00000463489.1_5'UTR|LAIR1_ENST00000391742.2_Silent_p.L179L|LAIR1_ENST00000474878.1_Silent_p.L161L|LAIR1_ENST00000348231.4_Silent_p.L162L|LAIR1_ENST00000313038.6_Silent_p.L172L			Q6GTX8	LAIR1_HUMAN	leukocyte-associated immunoglobulin-like receptor 1	179						integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3)	26	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0573)		GGACCAGGAGGAGGAGACAGA	0.542000													10	47					0	0	0.000673444	0	0
SERPINB4	6318	broad.mit.edu	37	18	61306990	61306990	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:61306990G>A	ENST00000341074.5	-	6	605	c.490C>T	c.(490-492)Cct>Tct	p.P164S	SERPINB4_ENST00000356424.6_Missense_Mutation_p.P164S	NM_002974.2	NP_002965.1			serpin peptidase inhibitor, clade B (ovalbumin), member 4											breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						GTCCCATCAGGAAATAGGTTT	0.358000													10	35					0	0	0.000978159	0	0
TRIM46	80128	broad.mit.edu	37	1	155156586	155156586	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:155156586G>A	ENST00000368382.1	+	10	2268	c.2131G>A	c.(2131-2133)Ggc>Agc	p.G711S	TRIM46_ENST00000545012.1_Missense_Mutation_p.G608S|TRIM46_ENST00000334634.4_Missense_Mutation_p.G734S|TRIM46_ENST00000392451.2_3'UTR|TRIM46_ENST00000468878.1_3'UTR	NM_001256599.1|NM_001256600.1|NM_001256601.1|NM_025058.4	NP_001243528.1|NP_001243529.1|NP_001243530.1|NP_079334.3	Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46	734	B30.2/SPRY.					intracellular	zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CATCGGGGGTGGCGCAGTACA	0.622000													9	16					0	0	0.000442599	0	0
VEPH1	79674	broad.mit.edu	37	3	157177967	157177967	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:157177967T>C	ENST00000494677.1	-	5	1054	c.532A>G	c.(532-534)Atg>Gtg	p.M178V	VEPH1_ENST00000468233.1_Missense_Mutation_p.M178V|VEPH1_ENST00000392832.2_Intron|VEPH1_ENST00000543418.1_Intron|VEPH1_ENST00000537559.1_Intron|VEPH1_ENST00000362010.2_Intron|VEPH1_ENST00000392833.2_Intron	NM_001167915.1	NP_001161387.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	0						plasma membrane				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			TTTCGCACCATACCTTGGAGT	0.418000													20	80					0	0	0.000720815	0	0
SLAMF8	56833	broad.mit.edu	37	1	159799849	159799849	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:159799849C>T	ENST00000289707.5	+	2	383	c.234C>T	c.(232-234)ggC>ggT	p.G78G	SLAMF8_ENST00000471286.1_3'UTR|SLAMF8_ENST00000368104.4_Intron	NM_020125.2	NP_064510.1	Q9P0V8	SLAF8_HUMAN	SLAM family member 8	78						integral to membrane				endometrium(2)|large_intestine(4)|lung(6)	12	all_hematologic(112;0.0597)					GCTTCCTGGGCCGAGCCCAGC	0.617000													6	54					0	0	0.00307968	0	0
DCLK3	85443	broad.mit.edu	37	3	36779808	36779808	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:36779808C>T	ENST00000416516.2	-	2	833	c.343G>A	c.(343-345)Gaa>Aaa	p.E115K		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	115						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						TGCCTCTCTTCCAGAGTGGCT	0.557000													22	73					0	0	0.000878237	0	0
NDN	4692	broad.mit.edu	37	15	23931540	23931540	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:23931540G>A	ENST00000331837.4	-	1	910	c.825C>T	c.(823-825)atC>atT	p.I275I		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	275	MAGE.				negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding	p.I275I(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		GGAACTCCATGATTTGCATCT	0.582000									Prader-Willi syndrome				7	40					0	0	0.000274275	0	0
PCDHB8	56128	broad.mit.edu	37	5	140559667	140559667	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:140559667C>T	ENST00000239444.2	+	1	2297	c.2052C>T	c.(2050-2052)gcC>gcT	p.A684A		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		684					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGGCCAGGCCGACTCTCTCA	0.672000													18	56					0	0	0.00188189	0	0
ALMS1P	200420	broad.mit.edu	37	2	73898210	73898210	+	RNA	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:73898210C>T	ENST00000450720.1	+	0	240					NR_003683.2																						CCAGTAGTTTCCTGAGCTCGA	0.368000													48	61					0	0	0.00361006	0	0
SLC22A4	6583	broad.mit.edu	37	5	131647942	131647942	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:131647942G>A	ENST00000200652.3	+	2	656	c.482G>A	c.(481-483)gGg>gAg	p.G161E	SLC22A4_ENST00000491257.1_3'UTR|AC034220.3_ENST00000417795.1_RNA	NM_003059.2	NP_003050.2	Q9H015	S22A4_HUMAN	solute carrier family 22 (organic cation/zwitterion transporter), member 4	161					body fluid secretion|sodium ion transport	apical plasma membrane|integral to plasma membrane|mitochondrion	ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	TTCGTGTCCGGGCAGCTGTCA	0.577000													11	50					0	0	0.000673444	0	0
SEZ6L	23544	broad.mit.edu	37	22	26707867	26707867	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr22:26707867C>T	ENST00000529632.2	+	8	2011	c.1815C>T	c.(1813-1815)gcC>gcT	p.A605A	SEZ6L_ENST00000404234.3_Silent_p.A605A|SEZ6L_ENST00000403121.1_Silent_p.A378A|SEZ6L_ENST00000343706.4_Silent_p.A605A|SEZ6L_ENST00000248933.6_Silent_p.A605A|SEZ6L_ENST00000402979.1_Silent_p.A378A|SEZ6L_ENST00000360929.3_Silent_p.A605A	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	605	Sushi 2.					endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						AGGGCCCGGCCATCATCGAAT	0.587000													10	59					0	0	0.00136819	0	0
SLC7A13	157724	broad.mit.edu	37	8	87229936	87229936	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:87229936T>C	ENST00000297524.3	-	3	1045	c.942A>G	c.(940-942)atA>atG	p.I314M	SLC7A13_ENST00000520624.1_5'UTR|SLC7A13_ENST00000419776.2_Missense_Mutation_p.I305M	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	314						integral to membrane	amino acid transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						TTGCAAGATATATTGGTCTCG	0.378000													43	151					0	0	0.00361006	0	0
FGF14	2259	broad.mit.edu	37	13	102379087	102379087	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr13:102379087A>C	ENST00000376131.4	-	4	592	c.497T>G	c.(496-498)tTg>tGg	p.L166W	FGF14_ENST00000376143.4_Missense_Mutation_p.L161W	NM_175929.2	NP_787125.1	Q92915	FGF14_HUMAN	fibroblast growth factor 14	161					cell death|cell-cell signaling|JNK cascade|nervous system development|signal transduction	nucleus	growth factor activity|heparin binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)	29	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TTGTCTGTACAACATGGATGA	0.363000													6	18					0	0	0.00307968	0	0
DNAH11	8701	broad.mit.edu	37	7	21654753	21654753	+	Silent	SNP	T	T	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:21654753T>C	ENST00000328843.6	+	21	3905	c.3874T>C	c.(3874-3876)Tta>Cta	p.L1292L	DNAH11_ENST00000409508.3_Silent_p.L1292L			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1292	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						GCTTGAGGCCTTAGAAGAAGA	0.398000									Kartagener syndrome				4	41					0	0	0.00024832	0	0
ZSCAN5A	79149	broad.mit.edu	37	19	56734019	56734019	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:56734019T>A	ENST00000587340.1	-	6	1375	c.680A>T	c.(679-681)gAa>gTa	p.E227V	ZSCAN5A_ENST00000391713.1_Missense_Mutation_p.E227V|ZSCAN5A_ENST00000592355.1_Missense_Mutation_p.E227V|ZSCAN5A_ENST00000254165.3_Missense_Mutation_p.E110V|ZSCAN5A_ENST00000587492.1_Missense_Mutation_p.E81V			Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	227					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						TTCCCTGTTTTCCTTCAGATC	0.512000													19	59					0	0	0.00188189	0	0
GRIN2B	2904	broad.mit.edu	37	12	13720142	13720142	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:13720142C>T	ENST00000279593.3	-	12	2624	c.2415G>A	c.(2413-2415)aaG>aaA	p.K805K		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	805					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TGACCTCATTCTTCTCATTGT	0.517000													11	36					0	0	0.00244969	0	0
TSPYL6	388951	broad.mit.edu	37	2	54482763	54482763	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:54482763C>T	ENST00000317802.7	-	1	646	c.526G>A	c.(526-528)Gaa>Aaa	p.E176K	ACYP2_ENST00000606865.1_Intron|ACYP2_ENST00000607452.1_Intron|ACYP2_ENST00000303536.4_Intron|ACYP2_ENST00000394666.3_Intron	NM_001003937.2	NP_001003937.2	Q8N831	TSYL6_HUMAN	TSPY-like 6	176					nucleosome assembly	nucleus				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(1)|ovary(1)|skin(1)|stomach(2)	20						GCTCTGTTTTCTTCCGCCACG	0.617000													18	31					0	0	0.00188189	0	0
OR5AK2	390181	broad.mit.edu	37	11	56757201	56757201	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:56757201G>A	ENST00000326855.2	+	1	855	c.813G>A	c.(811-813)atG>atA	p.M271I		NM_001005323.1	NP_001005323.1	Q8NH90	O5AK2_HUMAN	olfactory receptor, family 5, subfamily AK, member 2	271					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						AGGAAAATATGAAAGTGGCCT	0.358000													6	41					0	0	0.00198382	0	0
C10orf129	142827	broad.mit.edu	37	10	96971721	96971721	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:96971721G>A	ENST00000341686.3	+	6	967	c.842G>A	c.(841-843)gGa>gAa	p.G281E	C10orf129_ENST00000394005.3_Missense_Mutation_p.G281E|C10orf129_ENST00000430183.1_Missense_Mutation_p.G126E	NM_207321.2	NP_997204.2	Q6P461	ACSM6_HUMAN	chromosome 10 open reading frame 129	281					fatty acid metabolic process	mitochondrion	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			breast(1)|kidney(2)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		GCTGTCTTGGGAACTTGGTTC	0.483000													11	25					0	0	0.00136819	0	0
OTUD7B	56957	broad.mit.edu	37	1	149916304	149916304	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:149916304G>A	ENST00000369135.3	-	12	2278	c.1984C>T	c.(1984-1986)Cct>Tct	p.P662S		NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU domain containing 7B	662					negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|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)|STAD - Stomach adenocarcinoma(528;0.247)			TTGGCTGGAGGAGGGCCACCC	0.577000													17	42					0	0	0.000566183	0	0
PTPN21	11099	broad.mit.edu	37	14	88945739	88945739	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:88945739G>A	ENST00000556564.1	-	13	2320	c.2036C>T	c.(2035-2037)aCc>aTc	p.T679I	PTPN21_ENST00000328736.3_Missense_Mutation_p.T679I	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	679						cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TGTCCTCTCGGTGAAAACGCT	0.682000													6	15					0	0	0.00198382	0	0
RINT1	60561	broad.mit.edu	37	7	105187477	105187477	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:105187477C>T	ENST00000257700.2	+	5	867	c.636C>T	c.(634-636)ttC>ttT	p.F212F		NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	212					cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TTCTTGGTTTCATGAGAGCCA	0.403000													17	128					0	0	0.000566183	0	0
HBD	3045	broad.mit.edu	37	11	5255355	5255355	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:5255355C>T	ENST00000380299.3	-	2	395	c.181G>A	c.(181-183)Gtg>Atg	p.V61M	HBD_ENST00000292901.3_Missense_Mutation_p.V61M	NM_000519.3	NP_000510.1	P02042	HBD_HUMAN	hemoglobin, delta	61					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			endometrium(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	16		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGAGCCTTCACCTTAGGGTTG	0.532000													12	43					0	0	0.00244969	0	0
HSPA8	3312	broad.mit.edu	37	11	122928507	122928507	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:122928507G>A	ENST00000534624.1	-	9	2152	c.1876C>T	c.(1876-1878)Cct>Tct	p.P626S	HSPA8_ENST00000526110.1_Missense_Mutation_p.P607S|HSPA8_ENST00000227378.3_Missense_Mutation_p.P626S|HSPA8_ENST00000453788.2_Missense_Mutation_p.P473S|HSPA8_ENST00000534319.1_Missense_Mutation_p.P390S|HSPA8_ENST00000533540.1_Missense_Mutation_p.P480S|HSPA8_ENST00000532636.1_Missense_Mutation_p.P626S	NM_006597.4	NP_006588.1	P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	626					cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		CCACCACCAGGAAATCCCCCA	0.522000													16	51					0	0	0.00400662	0	0
PHKB	5257	broad.mit.edu	37	16	47627449	47627449	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:47627449C>T	ENST00000455779.1	+	12	1271	c.1086C>T	c.(1084-1086)ttC>ttT	p.F362F	PHKB_ENST00000323584.5_Silent_p.F369F|PHKB_ENST00000566044.1_Silent_p.F362F|PHKB_ENST00000299167.8_Silent_p.F369F			Q93100	KPBB_HUMAN	phosphorylase kinase, beta	369					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				CCATATTTTTCCTTTATATGA	0.254000													7	28					0	0	0.00307968	0	0
C12orf4	57102	broad.mit.edu	37	12	4634441	4634441	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:4634441T>C	ENST00000261250.3	-	6	794	c.707A>G	c.(706-708)aAc>aGc	p.N236S	C12orf4_ENST00000545746.1_Missense_Mutation_p.N236S	NM_020374.2	NP_065107.1	Q9NQ89	CL004_HUMAN	chromosome 12 open reading frame 4	236										NS(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)	BRCA - Breast invasive adenocarcinoma(232;0.0281)		GTTGTTGGGGTTTTTTAGGTC	0.308000													34	143					0	0	0.00327116	0	0
HOXA3	3200	broad.mit.edu	37	7	27148297	27148297	+	Missense_Mutation	SNP	G	G	A	rs144351903		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:27148297G>A	ENST00000396352.4	-	3	768	c.569C>T	c.(568-570)tCg>tTg	p.S190L	HOXA3_ENST00000317201.2_Missense_Mutation_p.S190L|HOXA-AS2_ENST00000518088.1_RNA	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3	190					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						GCGCTTGGACGAAGCCTGCCC	0.716000													6	23					0	0	0.00198382	0	0
LDLRAD1	388633	broad.mit.edu	37	1	54475959	54475959	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:54475959G>A	ENST00000371360.1	-	5	482	c.465C>T	c.(463-465)agC>agT	p.S155S	LDLRAD1_ENST00000545928.1_Silent_p.S112S|LDLRAD1_ENST00000420619.1_Silent_p.S116S|LDLRAD1_ENST00000371362.3_Silent_p.S66S	NM_001010978.2	NP_001010978.2	Q5T700	LRAD1_HUMAN	low density lipoprotein receptor class A domain containing 1	155	LDL-receptor class A 2; atypical.					integral to membrane	receptor activity			large_intestine(3)|prostate(1)|skin(3)	7						CCCTACCTGGGCTCAGTTCAT	0.597000													13	17					0	0	0.00400662	0	0
WWC1	23286	broad.mit.edu	37	5	167855772	167855772	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:167855772C>T	ENST00000265293.4	+	13	2482	c.1980C>T	c.(1978-1980)acC>acT	p.T660T	WWC1_ENST00000521089.1_Silent_p.T660T	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	660	C2.				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		TGGGTGCGACCCGAATTCAGA	0.542000													10	31					0	0	0.000978159	0	0
NPAP1	23742	broad.mit.edu	37	15	24921861	24921861	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:24921861G>A	ENST00000329468.2	+	1	1321	c.847G>A	c.(847-849)Gaa>Aaa	p.E283K		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		AGTGCTGAATGAAGAGCCACC	0.602000													22	26					0	0	0.00188189	0	0
EBF1	1879	broad.mit.edu	37	5	158250240	158250240	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:158250240C>T	ENST00000313708.6	-	8	1004	c.722G>A	c.(721-723)gGg>gAg	p.G241E	EBF1_ENST00000517373.1_Missense_Mutation_p.G241E|EBF1_ENST00000380654.4_Missense_Mutation_p.G218E|EBF1_ENST00000518836.1_5'UTR	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	241					multicellular organismal development	nucleus	DNA binding|metal ion binding		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGCCCTCCGCCCATGCTTGGA	0.488000			T	HMGA2	lipoma								4	13					0	0	0.000602214	0	0
COL1A1	1277	broad.mit.edu	37	17	48267365	48267365	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:48267365G>A	ENST00000225964.5	-	36	2674	c.2556C>T	c.(2554-2556)ccC>ccT	p.P852P		NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	852	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)	CACTCACAATGGGGCCAGGGG	0.647000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta						9	40					0	0	0.000978159	0	0
RWDD3	25950	broad.mit.edu	37	1	95712135	95712135	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:95712135T>C	ENST00000370202.4	+	3	687	c.611T>C	c.(610-612)gTg>gCg	p.V204A	RP11-57H12.5_ENST00000444665.1_RNA|RWDD3_ENST00000263893.6_Intron|RWDD3_ENST00000495272.1_3'UTR	NM_001199682.1|NM_015485.4	NP_001186611.1|NP_056300.2	Q9Y3V2	RWDD3_HUMAN	RWD domain containing 3	204						cytoplasm|nucleus	protein binding			kidney(1)|large_intestine(2)|lung(6)|ovary(1)	10		all_epithelial(167;5.99e-05)|all_lung(203;0.00168)|Lung NSC(277;0.00769)		all cancers(265;0.112)|Epithelial(280;0.229)		AAAGTAGATGTGGACTCAAGT	0.318000													25	70					0	0	0.00106085	0	0
NBEA	26960	broad.mit.edu	37	13	36223864	36223864	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr13:36223864C>T	ENST00000400445.3	+	51	8314	c.7780C>T	c.(7780-7782)Cct>Tct	p.P2594S	NBEA_ENST00000379922.3_Missense_Mutation_p.P172S|NBEA_ENST00000310336.4_Missense_Mutation_p.P2594S|NBEA_ENST00000537702.1_Missense_Mutation_p.P387S|NBEA_ENST00000379939.2_Missense_Mutation_p.P2591S|NBEA_ENST00000540320.1_Missense_Mutation_p.P2594S	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	2594						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GCTGAAGTTTCCTTCAAATTC	0.478000													37	73					0	0	0.00222228	0	0
SPATA32	124783	broad.mit.edu	37	17	43333205	43333205	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:43333205T>C	ENST00000543122.1	-	6	1062	c.281A>G	c.(280-282)aAc>aGc	p.N94S	MAP3K14-AS1_ENST00000591263.1_RNA|MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000585346.1_RNA|MAP3K14-AS1_ENST00000588504.1_RNA|SPATA32_ENST00000331780.4_Missense_Mutation_p.N115S|MAP3K14-AS1_ENST00000590100.1_RNA|MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14-AS1_ENST00000588160.1_RNA					spermatogenesis associated 32																		CAGCCCCATGTTGGAGTGGAC	0.552000													25	112					0	0	0.00209593	0	0
VPS37D	155382	broad.mit.edu	37	7	73085385	73085385	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:73085385G>A	ENST00000324941.4	+	4	569	c.435G>A	c.(433-435)gaG>gaA	p.E145E	VPS37D_ENST00000451519.1_Silent_p.E60E	NM_001077621.1	NP_001071089.1	Q86XT2	VP37D_HUMAN	vacuolar protein sorting 37 homolog D (S. cerevisiae)	145	VPS37 C-terminal.				cellular membrane organization|endosome transport|protein transport	late endosome membrane				central_nervous_system(1)|ovary(1)	2		Lung NSC(55;0.0908)|all_lung(88;0.198)				AAAGCCTGGAGGCCTTCCTGC	0.692000													5	48					0	0	0.000602214	0	0
MRO	83876	broad.mit.edu	37	18	48327874	48327874	+	Splice_Site	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:48327874C>T	ENST00000428869.2	-	7	688	c.429_splice	c.e7-1	p.E144_splice	MRO_ENST00000587291.1_5'UTR|MRO_ENST00000436348.2_Splice_Site_p.E158_splice|MRO_ENST00000431965.2_Intron|MRO_ENST00000588444.1_Intron|MRO_ENST00000398439.3_Splice_Site_p.E144_splice|MRO_ENST00000256425.2_Splice_Site_p.E144_splice			Q9BYG7	MSTRO_HUMAN	maestro	144						nucleolus	binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)|skin(2)	10		Colorectal(6;0.0596)		Colorectal(21;0.082)		CTGTCGTTCTCCTGCGGTCCC	0.463000													20	142					0	0	0.00332997	0	0
SREBF2	6721	broad.mit.edu	37	22	42296418	42296418	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr22:42296418C>T	ENST00000361204.4	+	16	2989	c.2823C>T	c.(2821-2823)tcC>tcT	p.S941S	SREBF2_ENST00000491541.1_3'UTR	NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	941					cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						AGCAGAGTTCCTTCTGCCATT	0.622000													6	25					0	0	0.000442599	0	0
CCR5	1234	broad.mit.edu	37	3	46415067	46415067	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:46415067G>A	ENST00000343801.4	+	3	1031	c.674G>A	c.(673-675)cGa>cAa	p.R225Q	RP11-24F11.2_ENST00000451485.1_RNA|CCR5_ENST00000445772.1_Missense_Mutation_p.R225Q|CCR5_ENST00000292303.4_Missense_Mutation_p.R225Q	NM_000579.3	NP_000570.1	P51681	CCR5_HUMAN	chemokine (C-C motif) receptor 5 (gene/pseudogene)	225					cell-cell signaling|cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|immune response|inflammatory response|initiation of viral infection	endosome|external side of plasma membrane|integral to plasma membrane	actin binding|C-C chemokine receptor activity|coreceptor activity|phosphatidylinositol phospholipase C activity	p.R225Q(1)		central_nervous_system(1)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	Maraviroc(DB04835)	CTTCGGTGTCGAAATGAGAAG	0.463000													38	150					0	0	0.00428921	0	0
SLC25A27	9481	broad.mit.edu	37	6	46630223	46630223	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:46630223G>A	ENST00000371347.5	+	4	746	c.494G>A	c.(493-495)gGa>gAa	p.G165E	SLC25A27_ENST00000452689.2_Missense_Mutation_p.G79E|SLC25A27_ENST00000411689.2_Missense_Mutation_p.G165E|SLC25A27_ENST00000604908.1_3'UTR	NM_001204051.1|NM_004277.4	NP_001190980.1|NP_004268.3	O95847	UCP4_HUMAN	solute carrier family 25, member 27	165					generation of precursor metabolites and energy|transport	integral to membrane|mitochondrial inner membrane				central_nervous_system(1)|kidney(1)|lung(4)|prostate(1)|urinary_tract(1)	8			Lung(136;0.192)			AAACTGGAAGGAAAACCATTG	0.403000													9	61					0	0	0.000274275	0	0
C1orf94	84970	broad.mit.edu	37	1	34663234	34663234	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:34663234C>T	ENST00000488417.1	+	2	849	c.729C>T	c.(727-729)ttC>ttT	p.F243F	C1orf94_ENST00000373374.3_Silent_p.F53F	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	53							protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				TGTCCCAGTTCCCACTGAAGT	0.547000													4	27					0	0	0.000602214	0	0
MCM3	4172	broad.mit.edu	37	6	52144289	52144289	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:52144289G>A	ENST00000596288.1	-	5	802	c.775C>T	c.(775-777)Ccc>Tcc	p.P259S	MCM3_ENST00000419835.2_Missense_Mutation_p.P168S|MCM3_ENST00000229854.7_Missense_Mutation_p.P214S	NM_002388.4	NP_002379.3	P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	214					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding	p.L213_P214>LS(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					ACAGAGCGGGGGAGCTGGCCG	0.562000													13	94					0	0	0.00136819	0	0
RHAG	6005	broad.mit.edu	37	6	49583458	49583458	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:49583458C>T	ENST00000371175.4	-	4	545	c.519G>A	c.(517-519)acG>acA	p.T173T	RHAG_ENST00000229810.7_Silent_p.T173T	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN	Rh-associated glycoprotein	173					carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					AGGCATGGATCGTCATTGATG	0.458000													11	61					0	0	0.000978159	0	0
MALT1	10892	broad.mit.edu	37	18	56401549	56401549	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:56401549G>A	ENST00000348428.3	+	12	1669	c.1411G>A	c.(1411-1413)Gat>Aat	p.D471N	RP11-126O1.4_ENST00000588835.1_RNA|MALT1_ENST00000345724.3_Missense_Mutation_p.D460N	NM_006785.2|NM_173844.1	NP_006776.1|NP_776216.1	Q9UDY8	MALT1_HUMAN	mucosa associated lymphoid tissue lymphoma translocation gene 1	471	Caspase-like.				activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway	CBM complex|cytosol|nucleus|perinuclear region of cytoplasm	cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity			central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1)	12						AAATGACTACGATGATACCAT	0.358000			T	BIRC3	MALT								48	22					0	0	0.00361006	0	0
ADC	113451	broad.mit.edu	37	1	33583691	33583691	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:33583691C>T	ENST00000294517.6	+	11	1805	c.1218C>T	c.(1216-1218)atC>atT	p.I406I	ADC_ENST00000484656.1_3'UTR|ADC_ENST00000373441.1_Silent_p.I426I|ADC_ENST00000398167.1_Silent_p.I426I|ADC_ENST00000373443.3_Silent_p.I406I	NM_052998.2	NP_443724.1	Q96A70	ADC_HUMAN	arginine decarboxylase	406					polyamine biosynthetic process|spermatogenesis	cytosol	arginine decarboxylase activity			NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)			L-Arginine(DB00125)|Pyridoxal Phosphate(DB00114)	CCTGCCACATCACCTATGCCA	0.587000													7	22					0	0	0.00198382	0	0
PCDHA1	56147	broad.mit.edu	37	5	140167308	140167308	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:140167308C>T	ENST00000504120.2	+	1	1433	c.1433C>T	c.(1432-1434)tCt>tTt	p.S478F	PCDHA1_ENST00000378133.3_Missense_Mutation_p.S478F|PCDHA1_ENST00000394633.3_Missense_Mutation_p.S478F	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)			TTCACGGTGTCTGCGCGGGAC	0.652000													12	51					0	0	0.00185496	0	0
VWF	7450	broad.mit.edu	37	12	6128270	6128270	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:6128270G>A	ENST00000261405.5	-	28	4568	c.4314C>T	c.(4312-4314)ttC>ttT	p.F1438F		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	1438	VWFA 1; binding site for platelet glycoprotein Ib.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TGCTCAGCACGAAGGCCTTGT	0.592000													7	27					0	0	0.00198382	0	0
BIVM-ERCC5	100533467	broad.mit.edu	37	13	103515342	103515342	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr13:103515342C>T	ENST00000602836.1	+	16	3119	c.3119C>T	c.(3118-3120)tCt>tTt	p.S1040F	ERCC5_ENST00000355739.4_Silent_p.L615L	NM_001204425.1	NP_001191354.1	Q59FZ7	Q59FZ7_HUMAN		0					nucleotide-excision repair	nucleus	endonuclease activity|single-stranded DNA binding										TGAGAATTTTCTGGAAACCAT	0.418000													11	29					0	0	0.00136819	0	0
UGT2B11	10720	broad.mit.edu	37	4	70066355	70066355	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:70066355C>T	ENST00000446444.1	-	6	1401	c.1393G>A	c.(1393-1395)Gaa>Aaa	p.E465K	RP11-704M14.1_ENST00000505646.1_RNA|RP11-704M14.1_ENST00000504301.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	465					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						ATGACAAATTCAATCCAGAAG	0.418000													7	21					0	0	0.00198382	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995273	140995273	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:140995273C>T	ENST00000285879.4	+	4	2369	c.2083C>T	c.(2083-2085)Cct>Tct	p.P695S	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	695							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCTCCAAATTCCTCAGAGTCC	0.562000										HNSCC(15;0.026)			9	25					0	0	0.000442599	0	0
PRDM9	56979	broad.mit.edu	37	5	23522483	23522483	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:23522483G>A	ENST00000296682.3	+	7	761	c.579G>A	c.(577-579)gaG>gaA	p.E193E		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	193					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CATACAAAGAGGTCAGCGAGC	0.448000										HNSCC(3;0.000094)			22	123					0	0	0.000720815	0	0
EPHB1	2047	broad.mit.edu	37	3	134670754	134670754	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:134670754G>A	ENST00000398015.3	+	3	1035	c.665G>A	c.(664-666)cGg>cAg	p.R222Q	EPHB1_ENST00000488154.1_Intron	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	222	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	p.R222Q(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						GTGATTGCTCGGGGCACATGC	0.532000													19	53					0	0	0.00229938	0	0
DEPDC5	9681	broad.mit.edu	37	22	32275563	32275563	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr22:32275563C>T	ENST00000382105.2	+	35	3657	c.3515C>T	c.(3514-3516)tCg>tTg	p.S1172L	DEPDC5_ENST00000382111.2_Silent_p.F1286F|DEPDC5_ENST00000382112.3_Silent_p.F1277F|DEPDC5_ENST00000535622.1_Silent_p.F1186F|DEPDC5_ENST00000266091.3_Silent_p.F1264F|DEPDC5_ENST00000400246.1_Silent_p.F1286F|DEPDC5_ENST00000539165.1_Silent_p.F103F|DEPDC5_ENST00000400248.1_Silent_p.F1255F|DEPDC5_ENST00000400249.2_Silent_p.F1255F			O75140	DEPD5_HUMAN	DEP domain containing 5	0	DEP.				intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TGGACGACTTCGCCAGCTTCC	0.587000													9	28					0	0	0.000978159	0	0
MYH7	4625	broad.mit.edu	37	14	23886167	23886167	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:23886167G>A	ENST00000355349.3	-	33	4716	c.4554C>T	c.(4552-4554)tcC>tcT	p.S1518S		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1518					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TCTTTCCGCTGGAACCCAACT	0.592000													12	37					0	0	0.00400662	0	0
MUC16	94025	broad.mit.edu	37	19	9062188	9062188	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:9062188C>T	ENST00000397910.4	-	3	25461	c.25258G>A	c.(25258-25260)Gag>Aag	p.E8420K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8422	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						CTGCTGGTCTCCCTCAATCCA	0.517000													14	14					0	0	0.00185496	0	0
TMC3	342125	broad.mit.edu	37	15	81627096	81627096	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:81627096C>T	ENST00000558726.1	-	21	2562	c.2427G>A	c.(2425-2427)ggG>ggA	p.G809G	TMC3_ENST00000359440.5_Silent_p.G808G|RP11-761I4.3_ENST00000560973.1_RNA|RP11-761I4.3_ENST00000560851.1_RNA|RP11-761I4.3_ENST00000559781.1_RNA			Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	808						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						ATTTGGGGACCCCAGGGAGAG	0.567000													4	16					0	0	0.00024832	0	0
LGR5	8549	broad.mit.edu	37	12	71978225	71978225	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:71978225C>T	ENST00000266674.5	+	18	2746	c.2435C>T	c.(2434-2436)cCt>cTt	p.P812L	LGR5_ENST00000540815.2_Missense_Mutation_p.P788L|LGR5_ENST00000536515.1_Missense_Mutation_p.P740L			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	812						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						GTCCCACTTCCTGCATGTCTC	0.423000													59	284					0	0	0.00361006	0	0
FIZ1	84922	broad.mit.edu	37	19	56104030	56104030	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:56104030G>A	ENST00000221665.3	-	3	1366	c.1277C>T	c.(1276-1278)cCg>cTg	p.P426L		NM_032836.2	NP_116225.2	Q96SL8	FIZ1_HUMAN	FLT3-interacting zinc finger 1	426					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein kinase binding|receptor binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		CAGGTCTCGCGGTGAGCGGAA	0.677000													5	21					0	0	0.00198382	0	0
MYB	4602	broad.mit.edu	37	6	135517065	135517065	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:135517065C>T	ENST00000341911.5	+	9	1327	c.1128C>T	c.(1126-1128)atC>atT	p.I376I	MYB_ENST00000442647.2_Silent_p.I373I|MYB_ENST00000533624.1_Silent_p.I341I|MYB_ENST00000531845.1_3'UTR|MYB_ENST00000527615.1_Silent_p.I376I|MYB_ENST00000367814.4_Silent_p.I376I|MYB_ENST00000534044.1_Silent_p.I376I|MYB_ENST00000316528.8_Silent_p.I376I|MYB_ENST00000528774.1_Silent_p.I373I|MYB_ENST00000525369.1_Intron|MYB-AS1_ENST00000455534.1_RNA|MYB_ENST00000534121.1_Silent_p.I376I	NM_001130173.1|NM_001161656.1|NM_001161658.1	NP_001123645.1|NP_001155128.1|NP_001155130.1	P10242	MYB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog	376	Leucine-zipper.|Negative regulatory domain (By similarity).				blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of T-helper cell differentiation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear matrix	DNA binding|protein binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		GGTGCATGATCGTCCACCAGG	0.478000			T	NFIB	adenoid cystic carcinoma								10	18					0	0	0.000442599	0	0
P2RX1	5023	broad.mit.edu	37	17	3806518	3806518	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:3806518T>C	ENST00000225538.3	-	7	999	c.725A>G	c.(724-726)aAc>aGc	p.N242S		NM_002558.2	NP_002549.1	P51575	P2RX1_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 1	242					platelet activation	integral to plasma membrane	calcium channel activity|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	13				LUAD - Lung adenocarcinoma(2;1.9e-05)|Lung(3;0.0173)		GGTGCTGAAGTTCTGGCCTGA	0.582000													16	25					0	0	0.000958276	0	0
FASTKD2	22868	broad.mit.edu	37	2	207636625	207636625	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:207636625C>T	ENST00000236980.6	+	5	1346	c.998C>T	c.(997-999)gCc>gTc	p.A333V	FASTKD2_ENST00000403094.3_Missense_Mutation_p.A333V|FASTKD2_ENST00000402774.3_Missense_Mutation_p.A333V	NM_014929.3	NP_055744.2	Q9NYY8	FAKD2_HUMAN	FAST kinase domains 2	333					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(2)	21				LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138)		TAGATGAAAGCCTTGAGGGAA	0.328000													15	67					0	0	0.00316338	0	0
DYRK2	8445	broad.mit.edu	37	12	68052205	68052205	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:68052205C>T	ENST00000344096.3	+	3	1931	c.1518C>T	c.(1516-1518)ccC>ccT	p.P506P	DYRK2_ENST00000393555.3_Silent_p.P433P	NM_006482.2	NP_006473.2	Q92630	DYRK2_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 2	506	Protein kinase.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|positive regulation of glycogen biosynthetic process|smoothened signaling pathway	cytoplasm|nucleus	ATP binding|magnesium ion binding|manganese ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30			Lung(24;6.81e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(7;0.000573)		GTGATGATCCCCTTTTCCTTG	0.612000													9	30					0	0	0.000442599	0	0
ITGA8	8516	broad.mit.edu	37	10	15648354	15648354	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:15648354G>A	ENST00000378076.3	-	18	2185	c.1832C>T	c.(1831-1833)tCc>tTc	p.S611F		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	611					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						TTTAAAGGTGGATTCGTCCAA	0.363000													11	21					0	0	0.000673444	0	0
DNAH7	56171	broad.mit.edu	37	2	196642534	196642534	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:196642534G>A	ENST00000312428.6	-	59	11154	c.11054C>T	c.(11053-11055)cCt>cTt	p.P3685L	DNAH7_ENST00000409063.1_Missense_Mutation_p.P168L	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3685					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATCACCAGAAGGAGGAACAAA	0.368000													5	54					0	0	0.00116845	0	0
TPTE2	93492	broad.mit.edu	37	13	20006662	20006662	+	Silent	SNP	A	A	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr13:20006662A>G	ENST00000400230.2	-	16	1217	c.1173T>C	c.(1171-1173)ccT>ccC	p.P391P	TPTE2_ENST00000382977.4_Silent_p.P391P|TPTE2_ENST00000255310.6_Silent_p.P314P|TPTE2_ENST00000457266.2_Silent_p.P280P|TPTE2_ENST00000382975.4_Silent_p.P351P|TPTE2_ENST00000390680.2_Silent_p.P314P|TPTE2_ENST00000382978.1_Silent_p.P351P|TPTE2_ENST00000400103.2_Silent_p.P280P			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	391						endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		TCCGTCTTGGAGGGAGATTCC	0.373000													4	31					0	0	0.000602214	0	0
KIF6	221458	broad.mit.edu	37	6	39607459	39607459	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:39607459C>T	ENST00000287152.7	-	4	420	c.326G>A	c.(325-327)gGg>gAg	p.G109E	KIF6_ENST00000373215.3_Missense_Mutation_p.G109E|KIF6_ENST00000373216.3_Missense_Mutation_p.G109E|KIF6_ENST00000538893.1_Missense_Mutation_p.G109E	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	109	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						CTCTGCACCCCCTGTGATAGT	0.423000													10	36					0	0	0.00136819	0	0
MAPK14	1432	broad.mit.edu	37	6	36027100	36027100	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:36027100G>A	ENST00000229795.3	+	3	728	c.281G>A	c.(280-282)aGg>aAg	p.R94K	MAPK14_ENST00000468133.1_Missense_Mutation_p.R17K|MAPK14_ENST00000229794.4_Missense_Mutation_p.R94K|MAPK14_ENST00000310795.4_Missense_Mutation_p.R94K	NM_001315.2	NP_001306.1	Q16539	MK14_HUMAN	mitogen-activated protein kinase 14	94	Protein kinase.				activation of MAPK activity|cellular component movement|cellular response to ionizing radiation|chemotaxis|innate immune response|mRNA metabolic process|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of muscle cell differentiation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|signal transduction in response to DNA damage|stress-activated MAPK cascade|stress-induced premature senescence|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 activity|MAP kinase kinase activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|stomach(1)	16						ACACCTGCAAGGTCTCTGGAG	0.343000													37	90					0	0	0.00321405	0	0
KCNH5	27133	broad.mit.edu	37	14	63447701	63447701	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:63447701G>A	ENST00000322893.7	-	6	1099	c.831C>T	c.(829-831)gtC>gtT	p.V277V	KCNH5_ENST00000420622.2_Silent_p.V277V|KCNH5_ENST00000394964.2_Silent_p.V219V|KCNH5_ENST00000394968.1_Silent_p.V219V	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	277					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		GGTCAGAAATGACCTCTCCAC	0.428000													5	27					0	0	0.000602214	0	0
C1GALT1	56913	broad.mit.edu	37	7	7283249	7283249	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:7283249C>T	ENST00000436587.2	+	4	1206	c.983C>T	c.(982-984)cCa>cTa	p.P328L	C1GALT1_ENST00000223122.2_Missense_Mutation_p.P328L	NM_020156.3	NP_064541.1	Q9NS00	C1GLT_HUMAN	core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1	328					angiogenesis|cell differentiation|kidney development	integral to membrane	glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity|metal ion binding			breast(1)|kidney(1)|lung(3)|prostate(1)|urinary_tract(1)	7				UCEC - Uterine corpus endometrioid carcinoma (126;0.177)		CATCTTCGTCCATATGGTTAT	0.348000													32	177					0	0	0.00283554	0	0
IMMT	10989	broad.mit.edu	37	2	86372002	86372002	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:86372002G>A	ENST00000410111.3	-	15	2053	c.1666C>T	c.(1666-1668)Cat>Tat	p.H556Y	IMMT_ENST00000409051.2_Missense_Mutation_p.H509Y|IMMT_ENST00000449247.2_Missense_Mutation_p.H545Y|IMMT_ENST00000442664.2_Missense_Mutation_p.H555Y|IMMT_ENST00000254636.5_Missense_Mutation_p.H457Y	NM_001100169.1|NM_001100170.1|NM_006839.2	NP_001093639.1|NP_001093640.1|NP_006830.2	Q16891	IMMT_HUMAN	inner membrane protein, mitochondrial	556						integral to mitochondrial inner membrane	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GCAACTGCATGGCCTACAAAG	0.438000													4	42					0	0	0.000602214	0	0
LPAR1	1902	broad.mit.edu	37	9	113704247	113704247	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:113704247G>A	ENST00000374431.3	-	4	630	c.247C>T	c.(247-249)Cct>Tct	p.P83S	LPAR1_ENST00000358883.4_Missense_Mutation_p.P83S|LPAR1_ENST00000374430.2_Missense_Mutation_p.P83S|LPAR1_ENST00000541779.1_Missense_Mutation_p.P84S|LPAR1_ENST00000538760.1_Missense_Mutation_p.P84S	NM_057159.2	NP_476500.1	Q92633	LPAR1_HUMAN	lysophosphatidic acid receptor 1	83					positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						TAATAAATAGGAAAATGGAAG	0.458000													7	32					0	0	0.00198382	0	0
SH2B1	25970	broad.mit.edu	37	16	28883917	28883917	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:28883917C>T	ENST00000337120.5	+	7	5079	c.1788C>T	c.(1786-1788)tcC>tcT	p.S596S	SH2B1_ENST00000359285.5_Silent_p.S596S|SH2B1_ENST00000545570.1_Silent_p.S286S|SH2B1_ENST00000395532.4_Silent_p.S596S|SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000538342.1_Silent_p.S260S|SH2B1_ENST00000322610.8_Silent_p.S596S	NM_001145812.1|NM_015503.2	NP_001139284.1|NP_056318.2	Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	596	SH2.				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						GGTTCCAGTCCATTTTCGATA	0.602000													15	37					0	0	0.000958276	0	0
FLG	2312	broad.mit.edu	37	1	152283639	152283639	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:152283639G>A	ENST00000368799.1	-	3	3758	c.3723C>T	c.(3721-3723)gcC>gcT	p.A1241A	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1241	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)			CAGCCCAAGAGGCAGCTTCAT	0.557000									Ichthyosis				61	102					0	0	0.00361006	0	0
COPS5	10987	broad.mit.edu	37	8	67969657	67969657	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:67969657G>A	ENST00000517736.1	-	4	900	c.339C>T	c.(337-339)tcC>tcT	p.S113S	COPS5_ENST00000357849.4_Silent_p.S177S			Q92905	CSN5_HUMAN	COP9 signalosome subunit 5	177	MPN.				cullin deneddylation|transcription from RNA polymerase II promoter	eukaryotic translation initiation factor 3 complex|signalosome	metal ion binding|metallopeptidase activity|protein binding|transcription coactivator activity|translation initiation factor activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|skin(3)	14	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00389)|OV - Ovarian serous cystadenocarcinoma(28;0.00691)|all cancers(69;0.0205)|BRCA - Breast invasive adenocarcinoma(89;0.153)			CTTTCCCTGCGGATATTGTTC	0.328000													63	179					0	0	0.00361006	0	0
ZEB1	6935	broad.mit.edu	37	10	31791356	31791356	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:31791356G>A	ENST00000446923.2	+	4	743	c.352G>A	c.(352-354)Gac>Aac	p.D118N	ZEB1_ENST00000542815.3_Missense_Mutation_p.D67N|ZEB1_ENST00000320985.10_Missense_Mutation_p.D134N|ZEB1_ENST00000560721.2_Missense_Mutation_p.D114N|ZEB1_ENST00000361642.5_Missense_Mutation_p.D135N|ZEB1_ENST00000559858.1_3'UTR	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	134					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				ACAACAACAAGACACTGCTGT	0.403000													11	51					0	0	0.00136819	0	0
TMEM120B	144404	broad.mit.edu	37	12	122213562	122213562	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:122213562C>T	ENST00000540377.1	+	6	460	c.64C>T	c.(64-66)Cct>Tct	p.P22S	TMEM120B_ENST00000449592.2_Silent_p.F318F			A0PK00	T120B_HUMAN	transmembrane protein 120B	0						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)	11	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;5.75e-05)|Epithelial(86;0.000128)|BRCA - Breast invasive adenocarcinoma(302;0.238)		TCGGCAACTTCCTGACCACGC	0.617000											OREG0022207	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	65					0	0	0.00185496	0	0
GPR15	2838	broad.mit.edu	37	3	98251936	98251936	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:98251936G>A	ENST00000284311.3	+	1	1194	c.1059G>A	c.(1057-1059)agG>agA	p.R353R		NM_005290.1	NP_005281.1	P49685	GPR15_HUMAN	G protein-coupled receptor 15	353						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.R353S(1)		endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)		Lung(72;0.246)		TTGCCAGGAGGAGGAAGAGGT	0.438000													7	39					0	0	0.00198382	0	0
NETO2	81831	broad.mit.edu	37	16	47117221	47117221	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:47117221C>T	ENST00000562435.1	-	9	1873	c.1489G>A	c.(1489-1491)Gaa>Aaa	p.E497K	NETO2_ENST00000303155.5_Missense_Mutation_p.E490K	NM_018092.4	NP_060562.3	Q8NC67	NETO2_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 2	497						integral to membrane	receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	29		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)				ACTCGGTCTTCCAGGGCCTGC	0.438000										HNSCC(25;0.065)			17	36					0	0	0.00074312	0	0
LRRC18	474354	broad.mit.edu	37	10	50122160	50122160	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:50122160G>A	ENST00000374160.3	-	1	117	c.41C>T	c.(40-42)aCc>aTc	p.T14I	WDFY4_ENST00000325239.5_Intron|WDFY4_ENST00000413659.2_Intron|LRRC18_ENST00000298124.3_Missense_Mutation_p.T14I|RP11-523O18.7_ENST00000430438.1_RNA	NM_001006939.3	NP_001006940.3	Q8N456	LRC18_HUMAN	leucine rich repeat containing 18	14						cytoplasm				NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						CACCTTGAGGGTGATCTTCTT	0.438000													10	22					0	0	0.000673444	0	0
FCRL6	343413	broad.mit.edu	37	1	159779212	159779212	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:159779212C>T	ENST00000321935.6	+	6	732	c.646C>T	c.(646-648)Ctc>Ttc	p.L216F	FCRL6_ENST00000392235.3_Missense_Mutation_p.L114F|FCRL6_ENST00000339348.5_Missense_Mutation_p.L209F|FCRL6_ENST00000368106.3_Missense_Mutation_p.L209F			Q6DN72	FCRL6_HUMAN	Fc receptor-like 6	209	Ig-like C2-type 3.					integral to membrane				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	24	all_hematologic(112;0.0597)					CCGTCCTGTGCTCACTCTGCA	0.647000													4	20					0	0	0.00198382	0	0
CATSPERB	79820	broad.mit.edu	37	14	92102861	92102861	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:92102861G>A	ENST00000256343.3	-	17	1806	c.1650C>T	c.(1648-1650)atC>atT	p.I550I		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	550					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				ATGCAAAAAAGATAATTTCAT	0.408000													11	30					0	0	0.00136819	0	0
ADPGK	83440	broad.mit.edu	37	15	73052767	73052767	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:73052767G>A	ENST00000311669.8	-	4	717	c.624C>T	c.(622-624)ctC>ctT	p.L208L	ADPGK_ENST00000567733.1_5'UTR	NM_031284.4	NP_112574.3	Q9BRR6	ADPGK_HUMAN	ADP-dependent glucokinase	208	ADPK.				glycolysis	extracellular region	ADP-specific glucokinase activity|metal ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)	7						ACTCTAAAATGAGGTGGAACT	0.458000													34	145					0	0	0.00128727	0	0
OR5A1	219982	broad.mit.edu	37	11	59210928	59210928	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:59210928C>T	ENST00000302030.2	+	1	312	c.287C>T	c.(286-288)tCa>tTa	p.S96L		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	96					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						AAGACCATATCATTTGTGGGC	0.473000													9	43					0	0	0.000442599	0	0
IL20RA	53832	broad.mit.edu	37	6	137338238	137338238	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:137338238G>A	ENST00000316649.5	-	2	326	c.91C>T	c.(91-93)Ccc>Tcc	p.P31S	IL20RA_ENST00000367748.1_5'UTR|IL20RA_ENST00000367746.3_Missense_Mutation_p.P31S|IL20RA_ENST00000468393.1_5'UTR|IL20RA_ENST00000541547.1_5'UTR	NM_014432.2	NP_055247.2	Q9UHF4	I20RA_HUMAN	interleukin 20 receptor, alpha	31						integral to membrane	receptor activity			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)		GAGACACAGGGAACTGAAAAA	0.468000													8	3					0	0	0.000274275	0	0
PRKCA	5578	broad.mit.edu	37	17	64734924	64734924	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:64734924C>T	ENST00000413366.3	+	11	1299	c.1273C>T	c.(1273-1275)Ctc>Ttc	p.L425F		NM_002737.2	NP_002728.1	P17252	KPCA_HUMAN	protein kinase C, alpha	425	Protein kinase.				activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Phosphatidylserine(DB00144)|Vitamin E(DB00163)	CGGTGGGGACCTCATGTACCA	0.453000													11	48					0	0	0.000673444	0	0
FKBP5	2289	broad.mit.edu	37	6	35565094	35565094	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:35565094G>A	ENST00000542713.1	-	6	753	c.596C>T	c.(595-597)cCa>cTa	p.P199L	FKBP5_ENST00000536438.1_Missense_Mutation_p.P199L|FKBP5_ENST00000540787.1_Missense_Mutation_p.P20L|FKBP5_ENST00000357266.4_Missense_Mutation_p.P199L|FKBP5_ENST00000539068.1_Missense_Mutation_p.P199L	NM_001145777.1	NP_001139249.1	Q13451	FKBP5_HUMAN	FK506 binding protein 5	199	PPIase FKBP-type 2.				protein folding	cytoplasm|membrane|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2)	17						AATTCCAATTGGAATGTCGTG	0.483000													10	143					0	0	0.000978159	0	0
C12orf76	400073	broad.mit.edu	37	12	110495058	110495058	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:110495058G>A	ENST00000309050.5	-	4	599	c.235C>T	c.(235-237)Cct>Tct	p.P79S	C12orf76_ENST00000548191.1_Intron|C12orf76_ENST00000548936.1_Intron	NM_207435.1	NP_997318.1	Q8N812	CL076_HUMAN	chromosome 12 open reading frame 76	79										endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6						AGCTCTGCAGGGAGGATGTGC	0.502000													9	25					0	0	0.000978159	0	0
EFNB3	1949	broad.mit.edu	37	17	7611847	7611847	+	Splice_Site	SNP	T	T	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:7611847T>G	ENST00000226091.2	+	3	905		c.e3+2			NM_001406.3	NP_001397.1	Q15768	EFNB3_HUMAN	ephrin-B3						cell-cell signaling|interspecies interaction between organisms	integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity			large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	8		all_cancers(10;1.14e-06)|Prostate(122;0.081)				TGGGACAAAGTGAGTGGGGCT	0.627000													3	12					0	0	6.4e-05	0	0
FCGBP	8857	broad.mit.edu	37	19	40424009	40424009	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:40424009C>T	ENST00000221347.6	-	4	2201	c.2194G>A	c.(2194-2196)Gtt>Att	p.V732I		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	732			V -> A (in dbSNP:rs34181317).			extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CAGTCCCCAACCGAGATGCCA	0.617000													5	31					0	0	0.00307968	0	0
ULK4	54986	broad.mit.edu	37	3	41942229	41942229	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:41942229G>A	ENST00000301831.4	-	13	1737	c.1275C>T	c.(1273-1275)atC>atT	p.I425I	ULK4_ENST00000420927.1_Silent_p.I425I	NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	425							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		TTGGATTGTCGATAATGGGGG	0.413000													38	160					0	0	0.00195071	0	0
MED13L	23389	broad.mit.edu	37	12	116421207	116421207	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:116421207G>A	ENST00000281928.3	-	21	4876	c.4670C>T	c.(4669-4671)cCa>cTa	p.P1557L		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1557					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		ACTGCCAGCTGGGGGAGCTGC	0.532000											OREG0022156	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	46					0	0	0.000673444	0	0
CPNE4	131034	broad.mit.edu	37	3	131388553	131388553	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:131388553G>A	ENST00000512055.1	-	11	2773	c.647C>T	c.(646-648)tCt>tTt	p.S216F	CPNE4_ENST00000429747.1_Missense_Mutation_p.S216F|CPNE4_ENST00000512332.1_Missense_Mutation_p.S234F|CPNE4_ENST00000502818.1_Missense_Mutation_p.S234F|CPNE4_ENST00000511604.1_Missense_Mutation_p.S216F			Q96A23	CPNE4_HUMAN	copine IV	216	C2 2.									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						GCTGCATAGAGAATTTACAGA	0.403000													15	71					0	0	0.00074312	0	0
NBEAL2	23218	broad.mit.edu	37	3	47033073	47033073	+	Missense_Mutation	SNP	C	C	T	rs111521585		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:47033073C>T	ENST00000450053.3	+	8	999	c.820C>T	c.(820-822)Cgt>Tgt	p.R274C	NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Missense_Mutation_p.R274C	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	274							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		CCCAGAGCTTCGTGCCCTGCT	0.627000													5	35					0	0	0.000602214	0	0
SERPINB11	89778	broad.mit.edu	37	18	61383355	61383355	+	RNA	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:61383355G>A	ENST00000544088.1	+	0	506				SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000382749.5_RNA|SERPINB11_ENST00000489748.1_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)				CGAGGAAAACGATTAATGCTT	0.368000													8	27					0	0	0.000978159	0	0
RRP12	23223	broad.mit.edu	37	10	99126519	99126519	+	Silent	SNP	G	G	T	rs139760006		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:99126519G>T	ENST00000370992.4	-	27	3306	c.3195C>A	c.(3193-3195)ccC>ccA	p.P1065P	RRP12_ENST00000414986.1_Silent_p.P1004P|RRP12_ENST00000479481.1_5'UTR|RRP12_ENST00000315563.6_Silent_p.P965P|RRP12_ENST00000536831.1_Silent_p.P783P	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	1065	Glu-rich.					integral to membrane|nuclear membrane|nucleolus	protein binding	p.P1065P(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		TGCCCTGGGCGGGctcctcct	0.672000													5	58					0.00116845	0.00337487	0.00116845	1	0
COL9A1	1297	broad.mit.edu	37	6	70984465	70984465	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:70984465C>T	ENST00000357250.6	-	11	1144	c.986G>A	c.(985-987)gGa>gAa	p.G329E	COL9A1_ENST00000489611.1_5'UTR|COL9A1_ENST00000320755.7_Missense_Mutation_p.G86E|COL9A1_ENST00000370499.4_Missense_Mutation_p.G86E	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	329	Triple-helical region (COL3).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						TCCATCAGGTCCTGTTAATCC	0.353000													19	18					0	0	0.00152264	0	0
SNTA1	6640	broad.mit.edu	37	20	31996540	31996540	+	Silent	SNP	A	A	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:31996540A>T	ENST00000217381.2	-	7	1663	c.1392T>A	c.(1390-1392)ctT>ctA	p.L464L		NM_003098.2	NP_003089.1	Q13424	SNTA1_HUMAN	syntrophin, alpha 1	464	SU.				muscle contraction	cell junction|cytoplasm|cytoskeleton|sarcolemma	actin binding|calmodulin binding			breast(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(1)	13						AATCCAGGAAAAGGAGACTGG	0.632000													7	78					0	0	0.00198382	0	0
CACNA1E	777	broad.mit.edu	37	1	181726166	181726166	+	Silent	SNP	C	C	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:181726166C>G	ENST00000526775.1	+	29	4341	c.4176C>G	c.(4174-4176)ccC>ccG	p.P1392P	CACNA1E_ENST00000367573.2_Silent_p.P1411P|CACNA1E_ENST00000367570.1_Silent_p.P1411P|CACNA1E_ENST00000367567.4_Silent_p.P1018P|CACNA1E_ENST00000357570.5_Silent_p.P1362P|CACNA1E_ENST00000360108.3_Silent_p.P1392P|CACNA1E_ENST00000358338.5_Silent_p.P1343P	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1411					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TGGTCTTCCCCTTCTTCTTTG	0.483000													8	47					0	0	0.000274275	0	0
AGO2	27161	broad.mit.edu	37	8	141566090	141566090	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:141566090G>A	ENST00000220592.5	-	10	1286	c.1174C>T	c.(1174-1176)Cca>Tca	p.P392S	AGO2_ENST00000519980.1_Missense_Mutation_p.P392S	NM_012154.3	NP_036286.2			argonaute RISC catalytic component 2																		CGGACGTATGGATCTGTGTTG	0.562000													9	91					0	0	0.000978159	0	0
FGFR1	2260	broad.mit.edu	37	8	38275794	38275794	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:38275794G>A	ENST00000447712.2	-	10	2323	c.1382C>T	c.(1381-1383)tCt>tTt	p.S461F	FGFR1_ENST00000532791.1_Missense_Mutation_p.S459F|FGFR1_ENST00000341462.5_Missense_Mutation_p.S461F|FGFR1_ENST00000356207.5_Missense_Mutation_p.S372F|FGFR1_ENST00000425967.3_Missense_Mutation_p.S492F|FGFR1_ENST00000397091.5_Missense_Mutation_p.S459F|FGFR1_ENST00000397108.4_Missense_Mutation_p.S459F|FGFR1_ENST00000397113.2_Missense_Mutation_p.S459F|FGFR1_ENST00000335922.5_Missense_Mutation_p.S451F|FGFR1_ENST00000397103.1_Missense_Mutation_p.S372F|FGFR1_ENST00000326324.6_Missense_Mutation_p.S370F	NM_001174063.1|NM_015850.3|NM_023110.2	NP_001167534.1|NP_056934.2|NP_075598.2	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1	461					axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity		FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)	CTCATACTCAGAGACCCCTGC	0.542000		1	T	"""BCR, FOP, ZNF198, CEP1"""	"""MPD, NHL"""		"""Pfeiffer syndrome, Kallman syndrome"""						9	42					0	0	0.000274275	0	0
KSR1	8844	broad.mit.edu	37	17	25937142	25937142	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:25937142C>T	ENST00000398988.3	+	19	2375	c.1930C>T	c.(1930-1932)Cct>Tct	p.P644S	KSR1_ENST00000509603.2_Missense_Mutation_p.P759S|KSR1_ENST00000582410.1_5'UTR|KSR1_ENST00000319524.6_Missense_Mutation_p.P781S|KSR1_ENST00000268763.6_Missense_Mutation_p.P644S	NM_014238.1	NP_055053.1	Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	779	Protein kinase.				Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		CTATCTGGCCCCTGAGATTGT	0.582000											OREG0024262	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	38					0	0	0.00136819	0	0
ARHGAP11A	9824	broad.mit.edu	37	15	32928677	32928677	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:32928677C>T	ENST00000361627.3	+	12	2425	c.1703C>T	c.(1702-1704)cCt>cTt	p.P568L	ARHGAP11A_ENST00000543522.1_Missense_Mutation_p.P379L|ARHGAP11A_ENST00000565905.1_Missense_Mutation_p.P379L	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	568					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		GAACTCACCCCTTCCAATTTA	0.373000													50	66					0	0	0.00361006	0	0
SLCO1B1	10599	broad.mit.edu	37	12	21358869	21358869	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:21358869G>A	ENST00000256958.2	+	11	1495	c.1399G>A	c.(1399-1401)Gaa>Aaa	p.E467K		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	467	Kazal-like.				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	CAATTGTGATGAAAGTCAATG	0.363000													10	58					0	0	0.000442599	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70617364	70617364	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:70617364C>T	ENST00000260126.3	-	6	2230	c.1524G>A	c.(1522-1524)atG>atA	p.M508I	SLCO5A1_ENST00000530307.1_Missense_Mutation_p.M453I|SLCO5A1_ENST00000524945.1_Missense_Mutation_p.M508I	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	508						integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			CACTGCAGATCATTGCTAGTT	0.403000													11	71					0	0	0.00136819	0	0
ST7L	54879	broad.mit.edu	37	1	113140610	113140610	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:113140610A>T	ENST00000358039.4	-	5	909	c.605T>A	c.(604-606)tTa>tAa	p.L202*	ST7L_ENST00000369668.2_Nonsense_Mutation_p.L202*|ST7L_ENST00000369669.1_Nonsense_Mutation_p.L19*|ST7L_ENST00000360743.4_Nonsense_Mutation_p.L202*|ST7L_ENST00000343210.7_Nonsense_Mutation_p.L202*|ST7L_ENST00000544629.1_Intron|ST7L_ENST00000543570.1_Nonsense_Mutation_p.L185*|ST7L_ENST00000538187.1_Nonsense_Mutation_p.L146*|ST7L_ENST00000490067.1_Nonsense_Mutation_p.L185*|ST7L_ENST00000463235.1_5'UTR|ST7L_ENST00000369666.1_Nonsense_Mutation_p.L185*	NM_017744.4|NM_138727.3	NP_060214.2|NP_620055.1	Q8TDW4	ST7L_HUMAN	suppression of tumorigenicity 7 like	202					negative regulation of cell growth	integral to membrane	binding			endometrium(1)|kidney(4)|large_intestine(3)|lung(1)|prostate(2)|stomach(1)|urinary_tract(3)	15	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGAAGGACGTAAAAAATCTGT	0.353000													55	61					0	0	0.00361006	0	0
ZNF665	79788	broad.mit.edu	37	19	53669145	53669145	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:53669145G>A	ENST00000600412.1	-	2	518	c.403C>T	c.(403-405)Cat>Tat	p.H135Y	ZNF665_ENST00000396424.3_Missense_Mutation_p.H200Y			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	135					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		TCTCCAGTATGAATTCTCTTA	0.393000													38	126					0	0	0.00128727	0	0
COL5A2	1290	broad.mit.edu	37	2	189901342	189901342	+	Splice_Site	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:189901342C>T	ENST00000374866.3	-	52	4387	c.4113_splice	c.e52+1	p.Q1371_splice		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	1371	Fibrillar collagen NC1.				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			ATTAAATTACCTGAGACCCTC	0.333000													9	38					0	0	0.000442599	0	0
GRIN3A	116443	broad.mit.edu	37	9	104499744	104499744	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:104499744C>T	ENST00000361820.3	-	1	1118	c.518G>A	c.(517-519)tGg>tAg	p.W173*		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	173					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	GTCACTGCTCCATGGCGAACT	0.602000													6	17					0	0	0.00198382	0	0
DDX27	55661	broad.mit.edu	37	20	47846794	47846794	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:47846794C>G	ENST00000371764.4	+	9	1041	c.1032C>G	c.(1030-1032)atC>atG	p.I344M	DDX27_ENST00000484427.1_3'UTR	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	344	Helicase ATP-binding.					nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			ACATCCTCATCGCCACCCCAG	0.622000													6	35					0	0	0.00307968	0	0
LRP4	4038	broad.mit.edu	37	11	46898048	46898048	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:46898048G>A	ENST00000378623.1	-	25	3747	c.3505C>T	c.(3505-3507)Ccc>Tcc	p.P1169S		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1169					endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		ATGGCCCGGGGACTGTCAAGG	0.577000													9	31					0	0	0.000274275	0	0
SNHG14	104472715	broad.mit.edu	37	15	25442574	25442574	+	RNA	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:25442574G>A	ENST00000424208.1	+	0	1550				SNHG14_ENST00000424333.1_RNA|SNHG14_ENST00000456576.1_RNA	NR_003305.1																						CTGGCCCCGGGAAAATGTCCC	0.602000													6	8					0	0	0.00116845	0	0
WWP2	11060	broad.mit.edu	37	16	69832662	69832662	+	Missense_Mutation	SNP	C	C	T	rs150059700	byFrequency	TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:69832662C>T	ENST00000359154.2	+	3	249	c.148C>T	c.(148-150)Ccc>Tcc	p.P50S	WWP2_ENST00000569174.1_Missense_Mutation_p.P50S|WWP2_ENST00000448661.1_Missense_Mutation_p.P50S|WWP2_ENST00000356003.2_Missense_Mutation_p.P50S	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	50	C2.				entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GGATGGACTCCCCAGTGAGAC	0.493000											OREG0023909	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	65					0	0	0.00074312	0	0
ZNF184	7738	broad.mit.edu	37	6	27419126	27419126	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:27419126G>A	ENST00000211936.6	-	6	2496	c.2212C>T	c.(2212-2214)Cgc>Tgc	p.R738C	ZNF184_ENST00000377419.1_Missense_Mutation_p.R738C	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	738					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						AGAGCAGAGCGATATCTGAAG	0.383000													20	175					0	0	0.00332997	0	0
TENM1	10178	broad.mit.edu	37	X	123525979	123525979	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:123525979C>A	ENST00000422452.2	-	28	5674	c.5611G>T	c.(5611-5613)Gaa>Taa	p.E1871*	TENM1_ENST00000371130.3_Nonsense_Mutation_p.E1864*|STAG2_ENST00000469481.1_Intron	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		TGGTCATATTCCATTTTTTCA	0.378000													12	25					5.16669e-11	1.50726e-10	0.000978159	1	0
APC	324	broad.mit.edu	37	5	112157648	112157648	+	Silent	SNP	T	T	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:112157648T>G	ENST00000457016.1	+	11	1748	c.1368T>G	c.(1366-1368)ctT>ctG	p.L456L	APC_ENST00000508376.2_Silent_p.L456L|APC_ENST00000257430.4_Silent_p.L456L			P25054	APC_HUMAN	adenomatous polyposis coli	456	Leu-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.K455fs*3(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TAATGAAACTTTCATTTGATG	0.323000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			14	38					0	0	0.00400662	0	0
APOB	338	broad.mit.edu	37	2	21235262	21235262	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:21235262G>A	ENST00000233242.1	-	26	4605	c.4478C>T	c.(4477-4479)tCt>tTt	p.S1493F		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1493					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ATAGAACGAAGAGACTCTGAA	0.468000													38	172					0	0	0.00170553	0	0
JAKMIP2	9832	broad.mit.edu	37	5	147019290	147019290	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:147019290G>A	ENST00000265272.5	-	10	1902	c.1435C>T	c.(1435-1437)Cga>Tga	p.R479*	JAKMIP2_ENST00000507386.1_Nonsense_Mutation_p.R479*|JAKMIP2_ENST00000333010.6_Nonsense_Mutation_p.R437*	NM_014790.3	NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	479						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTAATTGTCGAAATCTTAGT	0.423000													14	98					0	0	0.000566183	0	0
RAB3IL1	5866	broad.mit.edu	37	11	61672342	61672342	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:61672342G>A	ENST00000394836.2	-	6	827	c.670C>T	c.(670-672)Ctg>Ttg	p.L224L	RAB3IL1_ENST00000301773.5_Silent_p.L198L	NM_013401.2	NP_037533.2	Q8TBN0	R3GEF_HUMAN	RAB3A interacting protein (rabin3)-like 1	224							protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|liver(1)|lung(4)|skin(3)|urinary_tract(1)	14						TCTGCAAACAGGATTGTGTCC	0.642000													9	38					0	0	0.00244969	0	0
PAPPA2	60676	broad.mit.edu	37	1	176564105	176564105	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:176564105C>T	ENST00000367662.3	+	3	2529	c.1365C>T	c.(1363-1365)gtC>gtT	p.V455V	PAPPA2_ENST00000367661.3_Silent_p.V455V	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	455	Metalloprotease.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CTGACTTGGTCCTGACAGCGA	0.547000													12	74					0	0	0.00185496	0	0
MUT	4594	broad.mit.edu	37	6	49425457	49425457	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:49425457G>A	ENST00000274813.3	-	3	827	c.700C>T	c.(700-702)Cct>Tct	p.P234S		NM_000255.3	NP_000246.2	P22033	MUTA_HUMAN	methylmalonyl CoA mutase	234					fatty acid beta-oxidation	mitochondrial matrix	cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GGTTCTGGAGGAAAAATGTAT	0.323000													10	75					0	0	0.000442599	0	0
NCOA2	10499	broad.mit.edu	37	8	71039182	71039182	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:71039182C>T	ENST00000452400.2	-	19	3963	c.3782G>A	c.(3781-3783)cGa>cAa	p.R1261Q	NCOA2_ENST00000267974.4_Missense_Mutation_p.R349Q	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	1261					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			CATCAAAGTTCGTTGCTGAAC	0.498000			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""								6	31					0	0	0.00198382	0	0
CXADRP3	440224	broad.mit.edu	37	18	14478132	14478132	+	RNA	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:14478132G>A	ENST00000581457.1	-	0	1776					NR_024076.1																						AAAAGGAAAGGAACACGGAAA	0.393000													14	7					0	0	0.00244969	0	0
OR2B3	442184	broad.mit.edu	37	6	29054169	29054169	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:29054169T>C	ENST00000377173.2	-	1	921	c.857A>G	c.(856-858)aAc>aGc	p.N286S		NM_001005226.2	NP_001005226.1			olfactory receptor, family 2, subfamily B, member 3											breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						GATGAGGGAGTTCAACATGGA	0.408000													9	76					0	0	0.000274275	0	0
GRIA3	2892	broad.mit.edu	37	X	122387391	122387391	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:122387391G>A	ENST00000264357.5	+	3	798	c.506G>A	c.(505-507)cGa>cAa	p.R169Q	GRIA3_ENST00000541091.1_Missense_Mutation_p.R153Q|GRIA3_ENST00000371256.5_Missense_Mutation_p.R169Q|GRIA3_ENST00000542149.1_Missense_Mutation_p.R169Q|GRIA3_ENST00000479118.1_3'UTR|GRIA3_ENST00000371251.1_Missense_Mutation_p.R169Q	NM_000828.4	NP_000819.3	P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	169					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	GACACAGAACGAGGTAAGAAG	0.433000													8	20					0	0	0.00136819	0	0
CSGALNACT1	55790	broad.mit.edu	37	8	19276183	19276183	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:19276183G>A	ENST00000454498.2	-	8	2224	c.1211C>T	c.(1210-1212)cCc>cTc	p.P404L	CSGALNACT1_ENST00000332246.6_Missense_Mutation_p.P404L|CSGALNACT1_ENST00000522854.1_Missense_Mutation_p.P404L|CSGALNACT1_ENST00000544602.1_Missense_Mutation_p.P404L|CSGALNACT1_ENST00000311540.4_Missense_Mutation_p.P404L	NM_001130518.1	NP_001123990.1	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 1	404					anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process	Golgi cisterna membrane|integral to Golgi membrane|soluble fraction	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				Colorectal(111;0.182)		CTGTTCCAAGGGAGGGACTGC	0.463000													8	23					0	0	0.000274275	0	0
MAP4K1	11184	broad.mit.edu	37	19	39087756	39087756	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:39087756C>T	ENST00000591517.1	-	25	1887	c.1859G>A	c.(1858-1860)gGc>gAc	p.G620D	MAP4K1_ENST00000396857.2_Missense_Mutation_p.G620D|CTB-186G2.1_ENST00000589557.1_RNA|MAP4K1_ENST00000589130.1_Missense_Mutation_p.G616D|MAP4K1_ENST00000586296.1_Intron	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	620	CNH.				activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CAGGAACGGGCCCCCAGAGCT	0.597000													4	11					0	0	0.00024832	0	0
ZFHX4	79776	broad.mit.edu	37	8	77617072	77617072	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:77617072C>T	ENST00000521891.2	+	2	1197	c.749C>T	c.(748-750)tCc>tTc	p.S250F	ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Missense_Mutation_p.S250F|ZFHX4_ENST00000050961.6_Missense_Mutation_p.S250F|ZFHX4_ENST00000455469.2_Missense_Mutation_p.S250F	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	250						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GCCAAAAACTCCTGTGTGTCC	0.443000										HNSCC(33;0.089)			5	52					0	0	0.000602214	0	0
TBC1D31	93594	broad.mit.edu	37	8	124154599	124154599	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:124154599G>T	ENST00000287380.1	+	19	2828	c.2738G>T	c.(2737-2739)cGa>cTa	p.R913L	TBC1D31_ENST00000309336.3_Intron|TBC1D31_ENST00000327098.5_Intron|TBC1D31_ENST00000378080.2_Intron|TBC1D31_ENST00000518805.1_Missense_Mutation_p.R467L|TBC1D31_ENST00000521676.1_Missense_Mutation_p.R790L|TBC1D31_ENST00000522420.1_Missense_Mutation_p.R808L	NM_145647.3	NP_663622.2			TBC1 domain family, member 31																		GATCTACAACGAAACAAATGT	0.378000													7	120					0.00307968	0.00887212	0.00307968	1	0
FZD4	8322	broad.mit.edu	37	11	86662310	86662310	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:86662310C>A	ENST00000531380.1	-	2	1793	c.1488G>T	c.(1486-1488)tgG>tgT	p.W496C	PRSS23_ENST00000531521.1_3'UTR|PRSS23_ENST00000533902.2_Missense_Mutation_p.P87T	NM_012193.3	NP_036325.2	Q9ULV1	FZD4_HUMAN	frizzled family receptor 4	496					canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|negative regulation of cell-substrate adhesion|neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|progesterone secretion|regulation of vascular endothelial growth factor receptor signaling pathway|substrate adhesion-dependent cell spreading|vasculogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cell projection|cell surface|cytoplasm	cytokine binding|G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding			breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1)	21		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TTTTGGCAGACCAAATCCACA	0.428000													11	36					9.70103e-10	2.82735e-09	0.000673444	1	0
OR5K1	26339	broad.mit.edu	37	3	98188656	98188656	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:98188656C>T	ENST00000332650.5	+	1	333	c.236C>T	c.(235-237)cCc>cTc	p.P79L		NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K, member 1	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCTATTACCCCCAAAATGTTA	0.428000													9	45					0	0	0.00244969	0	0
ZNF135	7694	broad.mit.edu	37	19	58578102	58578102	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:58578102C>T	ENST00000401053.4	+	4	325	c.322C>T	c.(322-324)Ctt>Ttt	p.L108F	ZNF135_ENST00000511556.1_Missense_Mutation_p.L96F|ZNF135_ENST00000506786.1_Intron|ZNF135_ENST00000313434.5_Intron|ZNF135_ENST00000439855.2_Intron|ZNF135_ENST00000359978.6_Intron	NM_001164529.1|NM_007134.1	NP_001158001.1|NP_009065.1	B4DHH9	B4DHH9_HUMAN	zinc finger protein 135	96					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		GTTTTTGCTTCTTTCAGACTT	0.388000													6	48					0	0	0.00116845	0	0
PPM1A	5494	broad.mit.edu	37	14	60752381	60752381	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:60752381C>T	ENST00000395076.4	+	3	1304	c.874C>T	c.(874-876)Cca>Tca	p.P292S	PPM1A_ENST00000325658.3_Missense_Mutation_p.P292S|PPM1A_ENST00000325642.3_Missense_Mutation_p.P365S|PPM1A_ENST00000529574.1_Missense_Mutation_p.P292S	NM_021003.4	NP_066283.1	P35813	PPM1A_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1A	292					cell cycle arrest|insulin receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein dephosphorylation|Wnt receptor signaling pathway	cytosol|nucleus|protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein serine/threonine phosphatase activity|signal transducer activity			cervix(1)|endometrium(1)|large_intestine(8)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(108;0.046)		GATCTGTTTTCCAAATGCACC	0.383000													7	32					0	0	0.000274275	0	0
FRMD4A	55691	broad.mit.edu	37	10	13838548	13838548	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:13838548C>T	ENST00000357447.2	-	5	615	c.247G>A	c.(247-249)Gaa>Aaa	p.E83K	FRMD4A_ENST00000342409.2_Missense_Mutation_p.E99K|FRMD4A_ENST00000378503.1_Missense_Mutation_p.E83K|FRMD4A_ENST00000358621.4_Missense_Mutation_p.E68K	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	83	FERM.					cytoplasm|cytoskeleton	binding			breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						AAGTCATGTTCCAATACTCTT	0.393000													17	97					0	0	0.000958276	0	0
H6PD	9563	broad.mit.edu	37	1	9305248	9305248	+	Silent	SNP	C	C	T	rs138775586	byFrequency	TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:9305248C>T	ENST00000377403.2	+	2	557	c.255C>T	c.(253-255)tcC>tcT	p.S85S	H6PD_ENST00000602477.1_Silent_p.S96S	NM_004285.3	NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	85	Glucose 1-dehydrogenase.					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	NADH(DB00157)	AATCCCTCTCCTGCCCCAAGG	0.592000													6	15					0	0	0.00307968	0	0
COL26A1	136227	broad.mit.edu	37	7	101192500	101192500	+	RNA	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:101192500C>T	ENST00000313669.7	+	0	1181				COL26A1_ENST00000528707.1_RNA|COL26A1_ENST00000397927.3_RNA	NM_133457.2	NP_597714.2			collagen, type XXVI, alpha 1																		ACACCTGGATCCCAGGTAAGG	0.642000													5	47					0	0	0.00198382	0	0
C11orf30	56946	broad.mit.edu	37	11	76255615	76255615	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:76255615C>T	ENST00000529032.1	+	18	3022	c.3022C>T	c.(3022-3024)Cag>Tag	p.Q1008*	C11orf30_ENST00000533248.1_Nonsense_Mutation_p.Q917*|C11orf30_ENST00000334736.3_Nonsense_Mutation_p.Q1008*|C11orf30_ENST00000525919.1_Nonsense_Mutation_p.Q1009*|C11orf30_ENST00000343878.3_Nonsense_Mutation_p.Q1008*|C11orf30_ENST00000524490.1_Nonsense_Mutation_p.Q910*|C11orf30_ENST00000524767.1_Nonsense_Mutation_p.Q1023*|C11orf30_ENST00000525038.1_Nonsense_Mutation_p.Q1009*			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	1008	Gln-rich.				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						CACCCCTCTCCAGCAAGAACA	0.552000													10	37					0	0	0.000673444	0	0
C6orf223	221416	broad.mit.edu	37	6	43968745	43968745	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:43968745T>G	ENST00000439969.2	+	2	119	c.116T>G	c.(115-117)tTt>tGt	p.F39C	RP5-1120P11.1_ENST00000422059.1_RNA|C6orf223_ENST00000336600.5_Intron|RP5-1120P11.1_ENST00000607590.1_RNA|C6orf223_ENST00000448947.2_Intron			Q8N319	CF223_HUMAN	chromosome 6 open reading frame 223	0										central_nervous_system(1)|lung(2)|pancreas(1)|prostate(1)|urinary_tract(1)	6	all_cancers(18;2.28e-07)|all_epithelial(2;1.62e-08)|Lung NSC(15;0.000172)|all_lung(25;0.000533)|Hepatocellular(11;0.00309)|Ovarian(13;0.0437)		all cancers(41;0.00141)|Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.217)			GGAGGGCTCTTTTCACCAGAA	0.567000													14	51					0	0	0.00400662	0	0
CSMD3	114788	broad.mit.edu	37	8	114326819	114326819	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:114326819G>A	ENST00000297405.5	-	2	626	c.382C>T	c.(382-384)Cct>Tct	p.P128S	CSMD3_ENST00000343508.3_Missense_Mutation_p.P88S|CSMD3_ENST00000455883.2_Missense_Mutation_p.P128S|CSMD3_ENST00000352409.3_Missense_Mutation_p.P128S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	128	CUB 1.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AAGTTTGTAGGATGAGGATGT	0.313000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			9	99					0	0	0.000274275	0	0
PRKCG	5582	broad.mit.edu	37	19	54394986	54394986	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:54394986G>A	ENST00000263431.3	+	6	870	c.588G>A	c.(586-588)gtG>gtA	p.V196V	PRKCG_ENST00000542049.1_Silent_p.V83V|PRKCG_ENST00000536044.1_Silent_p.V196V|PRKCG_ENST00000540413.1_Silent_p.V196V	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	196	C2.				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		ATCCCTATGTGAAACTGAAGC	0.517000													13	56					0	0	0.00136819	0	0
USH2A	7399	broad.mit.edu	37	1	215931972	215931972	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:215931972C>T	ENST00000366943.2	-	58	11740	c.11354G>A	c.(11353-11355)gGg>gAg	p.G3785E	USH2A_ENST00000307340.3_Missense_Mutation_p.G3785E			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3785	Fibronectin type-III 23.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AGAATAAGGCCCAATTACTGT	0.338000										HNSCC(13;0.011)			8	61					0	0	0.00307968	0	0
DNTT	1791	broad.mit.edu	37	10	98092307	98092307	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:98092307C>T	ENST00000419175.1	+	9	1483	c.1313C>T	c.(1312-1314)cCc>cTc	p.P438L	DNTT_ENST00000371174.2_Missense_Mutation_p.P438L	NM_001017520.1|NM_004088.3	NP_001017520.1|NP_004079.3	P04053	TDT_HUMAN	DNA nucleotidylexotransferase	438	Mediates interaction with DNTTIP2.				DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		GTTCTGTGCCCCTACGAGCGT	0.537000													17	31					0	0	0.000958276	0	0
ZNF574	64763	broad.mit.edu	37	19	42584034	42584034	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:42584034C>T	ENST00000600245.1	+	2	1931	c.1276C>T	c.(1276-1278)Cca>Tca	p.P426S	CTB-59C6.3_ENST00000594531.1_RNA|ZNF574_ENST00000359044.4_Missense_Mutation_p.P426S|ZNF574_ENST00000222339.7_Missense_Mutation_p.P516S			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	426	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				AACACCAGTCCCACCAGAGGA	0.582000													5	32					0	0	0.00116845	0	0
ERMN	57471	broad.mit.edu	37	2	158178150	158178150	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:158178150C>T	ENST00000410096.1	-	3	779	c.488G>A	c.(487-489)cGa>cAa	p.R163Q	ERMN_ENST00000420719.2_Missense_Mutation_p.R143Q|ERMN_ENST00000535935.1_Missense_Mutation_p.R57Q|ERMN_ENST00000397283.2_Missense_Mutation_p.R176Q	NM_020711.1	NP_065762.1	Q8TAM6	ERMIN_HUMAN	ermin, ERM-like protein	163						cytoplasm|cytoskeleton				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12						GCTAGGTTTTCGAAATCCCAG	0.418000													39	81					0	0	0.00195071	0	0
ZAK	51776	broad.mit.edu	37	2	174094427	174094427	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:174094427C>T	ENST00000375213.3	+	12	1076	c.998C>T	c.(997-999)tCc>tTc	p.S333F	MLTK_ENST00000409176.2_Missense_Mutation_p.S333F|MLK7-AS1_ENST00000422703.1_RNA|MLK7-AS1_ENST00000423106.2_RNA	NM_016653.2	NP_057737.2																					CTGCTGCCTTCCTTTGAGATT	0.373000													21	92					0	0	0.000878237	0	0
PTPRT	11122	broad.mit.edu	37	20	40790065	40790065	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:40790065C>A	ENST00000373198.3	-	18	2910	c.2675G>T	c.(2674-2676)cGg>cTg	p.R892L	PTPRT_ENST00000356100.2_Missense_Mutation_p.R879L|PTPRT_ENST00000373184.1_Missense_Mutation_p.R860L|PTPRT_ENST00000373190.1_Missense_Mutation_p.R869L|PTPRT_ENST00000373193.3_Missense_Mutation_p.R873L|PTPRT_ENST00000373201.1_Missense_Mutation_p.R860L|PTPRT_ENST00000373187.1_Missense_Mutation_p.R870L	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	870	Tyrosine-protein phosphatase 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GTCAGCCACCCGGATGGCGGG	0.597000													5	35					0.00116845	0.00337487	0.00116845	1	0
MUC17	140453	broad.mit.edu	37	7	100686365	100686365	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:100686365C>T	ENST00000306151.4	+	3	11732	c.11668C>T	c.(11668-11670)Cct>Tct	p.P3890S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3890						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)					AACTAGCTTTCCTGGGGCCAG	0.478000													18	102					0	0	0.000958276	0	0
DNAH8	1769	broad.mit.edu	37	6	38702357	38702357	+	Missense_Mutation	SNP	C	C	T	rs145773185		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:38702357C>T	ENST00000359357.3	+	3	321	c.67C>T	c.(67-69)Cgt>Tgt	p.R23C	DNAH8_ENST00000441566.1_Missense_Mutation_p.R23C|DNAH8_ENST00000449981.2_Missense_Mutation_p.R240C					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ATTTTTTGTTCGTTGCCGTAA	0.318000													16	138					0	0	0.00074312	0	0
SV2B	9899	broad.mit.edu	37	15	91811791	91811791	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:91811791G>A	ENST00000394232.1	+	9	1799	c.1329G>A	c.(1327-1329)acG>acA	p.T443T	SV2B_ENST00000330276.4_Silent_p.T443T|SV2B_ENST00000545111.2_Silent_p.T292T	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	443					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			TCAACTTCACGATGGAAAATC	0.438000													70	245					0	0	0.00361006	0	0
SHANK2	22941	broad.mit.edu	37	11	70333413	70333413	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:70333413G>A	ENST00000338508.4	-	32	2987	c.2988C>T	c.(2986-2988)atC>atT	p.I996I	SHANK2_ENST00000449833.2_Silent_p.I400I|SHANK2_ENST00000409161.1_Silent_p.I399I|SHANK2_ENST00000423696.2_Silent_p.I616I			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	616					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CTTTGCTGGCGATCTTCCCCA	0.607000													19	65					0	0	0.00152264	0	0
CHAT	1103	broad.mit.edu	37	10	50827772	50827772	+	Splice_Site	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:50827772G>A	ENST00000395562.2	+	4	612	c.141_splice	c.e4-1	p.G48_splice	CHAT_ENST00000395559.2_Splice_Site_p.G12_splice|CHAT_ENST00000460699.1_3'UTR|CHAT_ENST00000337653.2_Splice_Site_p.G130_splice|CHAT_ENST00000351556.3_Splice_Site_p.G12_splice|CHAT_ENST00000455728.2_Splice_Site_p.G12_splice|CHAT_ENST00000339797.1_Splice_Site_p.G12_splice	NM_001142933.1|NM_001142934.1	NP_001136405.1|NP_001136406.1	P28329	CLAT_HUMAN	choline O-acetyltransferase	130					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity	p.G130E(1)		central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	TTCTTCCAGGGGCTGCCCAAA	0.582000													5	16					0	0	0.000442599	0	0
LAMA1	284217	broad.mit.edu	37	18	6999489	6999489	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:6999489C>T	ENST00000389658.3	-	32	4711	c.4618G>A	c.(4618-4620)Gat>Aat	p.D1540N		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1540	Laminin EGF-like 17.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCACACTCATCGCACCGGAGC	0.542000													9	28					0	0	0.000673444	0	0
MS4A6E	245802	broad.mit.edu	37	11	60107351	60107351	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:60107351C>T	ENST00000300182.4	+	3	432	c.367C>T	c.(367-369)Ctg>Ttg	p.L123L		NM_139249.2	NP_640342.1	Q96DS6	M4A6E_HUMAN	membrane-spanning 4-domains, subfamily A, member 6E	123						integral to membrane	receptor activity			endometrium(2)|kidney(1)|lung(9)|stomach(1)	13						AACTCTGTCTCTGATGCTGGT	0.488000													22	95					0	0	0.000720815	0	0
SDK1	221935	broad.mit.edu	37	7	4007031	4007031	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:4007031C>T	ENST00000404826.2	+	10	1650	c.1511C>T	c.(1510-1512)tCc>tTc	p.S504F	SDK1_ENST00000389531.3_Missense_Mutation_p.S504F	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	504	Ig-like C2-type 5.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TGTGAGGTGTCCGGGGCTCCC	0.552000													9	51					0	0	0.000442599	0	0
HMMR	3161	broad.mit.edu	37	5	162910345	162910345	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:162910345A>T	ENST00000416990.2	+	15	1909	c.1412A>T	c.(1411-1413)gAa>gTa	p.E471V	RP11-80G7.1_ENST00000521666.1_RNA|RP11-80G7.1_ENST00000514724.2_RNA|HMMR_ENST00000358715.3_Missense_Mutation_p.E585V|HMMR_ENST00000393915.4_Missense_Mutation_p.E586V|HMMR_ENST00000353866.3_Missense_Mutation_p.E570V|HMMR_ENST00000432118.2_Missense_Mutation_p.E499V			O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor (RHAMM)	585						cell surface|cytoplasm	hyaluronic acid binding			cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)		CTCTATGAAGAACTATATAAT	0.323000													10	83					0	0	0.00185496	0	0
RANBP6	26953	broad.mit.edu	37	9	6012763	6012763	+	Missense_Mutation	SNP	G	G	A	rs147043824		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:6012763G>A	ENST00000259569.5	-	1	2855	c.2845C>T	c.(2845-2847)Cgt>Tgt	p.R949C		NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	949					protein transport	cytoplasm|nucleus	binding	p.R949C(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		CATAAAGAACGATAATCATCT	0.413000													8	34					0	0	0.00307968	0	0
FAM83F	113828	broad.mit.edu	37	22	40417688	40417688	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr22:40417688C>T	ENST00000333407.5	+	4	1268	c.1174C>T	c.(1174-1176)Ccc>Tcc	p.P392S	FAM83F_ENST00000473717.1_3'UTR	NM_138435.2	NP_612444.2	Q8NEG4	FA83F_HUMAN	family with sequence similarity 83, member F	392										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2)	14						GGAGCCCATCCCCTTGGGAGA	0.652000													7	23					0	0	0.00198382	0	0
PTGS2	5743	broad.mit.edu	37	1	186648472	186648472	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:186648472C>T	ENST00000367468.5	-	2	287	c.151G>A	c.(151-153)Gga>Aga	p.G51R	PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	51	EGF-like.				cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)	CAGTTTTCTCCATAGAATCCT	0.433000													8	49					0	0	0.000442599	0	0
CAGE1	285782	broad.mit.edu	37	6	7373627	7373627	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:7373627C>T	ENST00000502583.1	-	5	1989	c.1425G>A	c.(1423-1425)cgG>cgA	p.R475R	CAGE1_ENST00000379918.4_Silent_p.R475R|CAGE1_ENST00000512086.1_Silent_p.R475R|CAGE1_ENST00000296742.7_Silent_p.R339R|CAGE1_ENST00000338150.4_Silent_p.R475R	NM_001170692.1	NP_001164163.1	Q8TC20	CAGE1_HUMAN	cancer antigen 1	475										breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1)	19	Ovarian(93;0.0418)					CCTCTTTTTCCCGTTTCAACA	0.398000													11	93					0	0	0.000673444	0	0
GATA2	2624	broad.mit.edu	37	3	128204928	128204928	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:128204928G>A	ENST00000341105.2	-	3	844	c.513C>T	c.(511-513)ttC>ttT	p.F171F	GATA2_ENST00000487848.1_Silent_p.F171F|GATA2_ENST00000430265.2_Silent_p.F171F	NM_032638.4	NP_116027.2	P23769	GATA2_HUMAN	GATA binding protein 2	171					blood coagulation|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of Notch signaling pathway|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79				GBM - Glioblastoma multiforme(114;0.173)		GTGGGAAGCCGAAAAGGTGGG	0.677000			Mis		AML(CML blast transformation)								11	8					0	0	0.00244969	0	0
SORCS3	22986	broad.mit.edu	37	10	106961007	106961007	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:106961007G>A	ENST00000369701.3	+	16	2484	c.2257G>A	c.(2257-2259)Gag>Aag	p.E753K	SORCS3_ENST00000369699.4_Missense_Mutation_p.E39K	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	753						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)		TTGGGACTTCGAGTGGTGAGT	0.512000													11	37					0	0	0.000673444	0	0
ZNF556	80032	broad.mit.edu	37	19	2878022	2878022	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:2878022C>G	ENST00000586426.1	+	4	1150	c.1063C>G	c.(1063-1065)Cgc>Ggc	p.R355G	ZNF556_ENST00000307635.2_Missense_Mutation_p.R356G			Q9HAH1	ZN556_HUMAN	zinc finger protein 556	356					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				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)		CGCGAGGCCTCGCCCCTCCAC	0.483000													12	13					0	0	0.00136819	0	0
CDYL2	124359	broad.mit.edu	37	16	80646538	80646538	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:80646538G>A	ENST00000299564.8	-	5	1358	c.1203C>T	c.(1201-1203)atC>atT	p.I401I	CDYL2_ENST00000566173.1_Silent_p.I402I|CDYL2_ENST00000563890.1_Silent_p.I402I|CDYL2_ENST00000562812.1_Silent_p.I402I	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	401						nucleus	catalytic activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						CGACGCCCAGGATCTGGGGGA	0.617000													12	30					0	0	0.00185496	0	0
HTR3E	285242	broad.mit.edu	37	3	183818224	183818224	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:183818224G>A	ENST00000335304.2	+	1	258	c.64G>A	c.(64-66)Gag>Aag	p.E22K	HTR3E_ENST00000440596.2_Missense_Mutation_p.E22K|HTR3E_ENST00000425359.2_Intron|HTR3E-AS1_ENST00000431427.1_RNA|HTR3E_ENST00000415389.2_Intron|HTR3E_ENST00000436361.2_Missense_Mutation_p.E22K	NM_182589.2|NM_198314.2	NP_872395.2|NP_938056.1	A5X5Y0	5HT3E_HUMAN	5-hydroxytryptamine (serotonin) receptor 3E, ionotropic	0						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			CTCATATAGGGAGCACAGGGT	0.527000													20	107					0	0	0.00278032	0	0
EEFSEC	60678	broad.mit.edu	37	3	127983499	127983499	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:127983499T>G	ENST00000254730.6	+	4	715	c.661T>G	c.(661-663)Tcg>Gcg	p.S221A	EEFSEC_ENST00000483457.1_Intron	NM_021937.3	NP_068756.2	P57772	SELB_HUMAN	eukaryotic elongation factor, selenocysteine-tRNA-specific	221						cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity			NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						GAGAGATCCCTCGGGACCGTT	0.567000													18	72					0	0	0.00395357	0	0
COLGALT2	23127	broad.mit.edu	37	1	183938499	183938499	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:183938499C>T	ENST00000361927.4	-	5	1107	c.736G>A	c.(736-738)Gag>Aag	p.E246K	COLGALT2_ENST00000546159.1_Missense_Mutation_p.E246K	NM_015101.2	NP_055916.1			collagen beta(1-O)galactosyltransferase 2																		TCCGAGGCCTCCTTCCTGAGG	0.542000													10	46					0	0	0.000442599	0	0
SPAG17	200162	broad.mit.edu	37	1	118581996	118581996	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:118581996C>T	ENST00000336338.5	-	23	3303	c.3238G>A	c.(3238-3240)Gaa>Aaa	p.E1080K		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1080						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TTCACAATTTCCTTAGGGTCA	0.383000													4	24					0	0	0.00024832	0	0
GLP1R	2740	broad.mit.edu	37	6	39024171	39024171	+	Splice_Site	SNP	A	A	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:39024171A>C	ENST00000373256.4	+	2	121		c.e2-1			NM_002062.3	NP_002053.3	P43220	GLP1R_HUMAN	glucagon-like peptide 1 receptor						activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	glucagon receptor activity|peptide receptor activity, G-protein coupled			breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31					Exenatide(DB01276)|Glucagon recombinant(DB00040)	CCCTCCCCCCAGGGTGCCACT	0.607000													4	14					0	0	0.00116845	0	0
KIF13A	63971	broad.mit.edu	37	6	17794897	17794897	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:17794897G>A	ENST00000378814.5	-	24	2980	c.2981C>T	c.(2980-2982)tCc>tTc	p.S994F	KIF13A_ENST00000378826.2_Missense_Mutation_p.S994F|KIF13A_ENST00000378843.2_Missense_Mutation_p.S994F|KIF13A_ENST00000259711.6_Missense_Mutation_p.S994F|KIF13A_ENST00000378816.5_Missense_Mutation_p.S994F	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	994					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TTCTAATATGGAGATCCACAT	0.418000													17	61					0	0	0.00400662	0	0
NPSR1	387129	broad.mit.edu	37	7	34698142	34698142	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:34698142G>A	ENST00000360581.1	+	1	246	c.118G>A	c.(118-120)Gaa>Aaa	p.E40K	NPSR1_ENST00000381539.3_Missense_Mutation_p.E40K|AC005493.1_ENST00000399077.1_Intron|NPSR1_ENST00000381553.3_Missense_Mutation_p.E40K|NPSR1_ENST00000381542.1_Missense_Mutation_p.E40K|NPSR1_ENST00000359791.1_Missense_Mutation_p.E40K|NPSR1_ENST00000465305.1_Missense_Mutation_p.E40K|NPSR1-AS1_ENST00000419766.1_RNA|NPSR1_ENST00000531252.1_Missense_Mutation_p.E40K	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	40						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	GGAAGGAAAGGAATGGGGTTC	0.478000													6	43					0	0	0.00198382	0	0
MROH2B	133558	broad.mit.edu	37	5	41061692	41061692	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:41061692G>A	ENST00000399564.4	-	6	1045	c.595C>T	c.(595-597)Cct>Tct	p.P199S		NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		GAGGCCAAAGGGGCCCACTTC	0.488000													15	133					0	0	0.00074312	0	0
CELSR2	1952	broad.mit.edu	37	1	109793362	109793362	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:109793362G>A	ENST00000271332.3	+	1	722	c.661G>A	c.(661-663)Gat>Aat	p.D221N		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	221	Cadherin 1.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GTACACCATGGATGCCCTCTT	0.617000													35	110					0	0	0.00375469	0	0
WASF3	10810	broad.mit.edu	37	13	27256818	27256818	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr13:27256818C>T	ENST00000361042.4	+	9	1274	c.1049C>T	c.(1048-1050)cCc>cTc	p.P350L	WASF3_ENST00000335327.5_Missense_Mutation_p.P353L			Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	353	Poly-Pro.				actin filament polymerization	cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		CCTGTGATTCCCTCAGCACAA	0.592000													15	46					0	0	0.00316338	0	0
HIST1H4G	8369	broad.mit.edu	37	6	26247194	26247194	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:26247194C>T	ENST00000244537.4	-	1	65	c.12G>A	c.(10-12)cgG>cgA	p.R4R		NM_003547.2	NP_003538.1	Q99525	H4G_HUMAN	histone cluster 1, H4g	4					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				CGGCCTTGCCCCGAACAGACA	0.468000													8	60					0	0	0.000978159	0	0
MAB21L3	126868	broad.mit.edu	37	1	116675959	116675959	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:116675959G>A	ENST00000369500.3	+	7	1327	c.1062G>A	c.(1060-1062)ctG>ctA	p.L354L		NM_152367.2	NP_689580.2	Q8N8X9	MB213_HUMAN	mab-21-like 3 (C. elegans)	354										breast(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|urinary_tract(1)	19						CCACCTTCCTGAAGAACCCCC	0.537000													11	20					0	0	0.00136819	0	0
BAIAP2	10458	broad.mit.edu	37	17	79058642	79058642	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:79058642C>T	ENST00000321300.6	+	4	321	c.228C>T	c.(226-228)ctC>ctT	p.L76L	BAIAP2_ENST00000392411.3_5'UTR|BAIAP2_ENST00000573894.1_3'UTR|BAIAP2_ENST00000428708.2_Silent_p.L76L|BAIAP2_ENST00000321280.7_Silent_p.L76L|BAIAP2_ENST00000575712.1_Silent_p.L76L|BAIAP2_ENST00000575245.1_Silent_p.L109L|BAIAP2_ENST00000435091.3_Silent_p.L76L	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2	76	IMD.				axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium	cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle	cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			GAGACGTTCTCTTCCAGATGG	0.622000													20	102					0	0	0.00278032	0	0
WIBG	84305	broad.mit.edu	37	12	56297237	56297237	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:56297237G>A	ENST00000408946.2	-	2	216	c.65C>T	c.(64-66)cCt>cTt	p.P22L	WIBG_ENST00000547925.1_Silent_p.L36L|WIBG_ENST00000398213.4_Missense_Mutation_p.P21L|WIBG_ENST00000302533.6_5'UTR|WIBG_ENST00000557259.1_Silent_p.L35L	NM_032345.2	NP_115721.1	Q9BRP8	WIBG_HUMAN	within bgcn homolog (Drosophila)	22	Required for interaction with MAGOH and RBM8A.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation	cytoplasm|exon-exon junction complex|nucleolus|nucleoplasm	protein binding|ribosome binding|RNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						GGTCCCGTCAGGTCGCTGTGT	0.443000													20	70					0	0	0.00395357	0	0
CCDC102B	79839	broad.mit.edu	37	18	66504355	66504355	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:66504355G>A	ENST00000360242.5	+	2	472	c.355G>A	c.(355-357)Gaa>Aaa	p.E119K	CCDC102B_ENST00000319445.6_Missense_Mutation_p.E119K|CCDC102B_ENST00000358653.5_Missense_Mutation_p.E119K|CCDC102B_ENST00000577772.1_3'UTR|CCDC102B_ENST00000584156.1_Missense_Mutation_p.E119K	NM_024781.2	NP_079057.2	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	119										breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				TGCCAGGGAGGAAGGAAGACA	0.463000													13	31					0	0	0.00185496	0	0
MAPKAP1	79109	broad.mit.edu	37	9	128201234	128201234	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:128201234T>C	ENST00000265960.3	-	12	1833	c.1501A>G	c.(1501-1503)Aaa>Gaa	p.K501E	MAPKAP1_ENST00000350766.3_Missense_Mutation_p.K465E|MAPKAP1_ENST00000373503.3_Missense_Mutation_p.K309E|MAPKAP1_ENST00000373498.1_Missense_Mutation_p.K501E|MAPKAP1_ENST00000483937.1_5'UTR|MAPKAP1_ENST00000373511.2_Missense_Mutation_p.K454E|MAPKAP1_ENST00000373497.5_Missense_Mutation_p.K214E|MAPKAP1_ENST00000394063.1_Missense_Mutation_p.K309E	NM_001006617.1	NP_001006618.1	Q9BPZ7	SIN1_HUMAN	mitogen-activated protein kinase associated protein 1	501	Interaction with ATF2.				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|response to stress|T cell costimulation	cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	Ras GTPase binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(3)	23						TTTCTTTGTTTTTGAGCAAAG	0.532000													46	36					0	0	0.00361006	0	0
SPAM1	6677	broad.mit.edu	37	7	123599723	123599723	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:123599723G>A	ENST00000340011.5	+	5	1587	c.1230G>A	c.(1228-1230)gaG>gaA	p.E410E	SPAM1_ENST00000439500.1_Silent_p.E410E|SPAM1_ENST00000460182.1_Silent_p.E410E|SPAM1_ENST00000223028.7_Silent_p.E410E|SPAM1_ENST00000402183.2_Silent_p.E410E	NM_003117.4	NP_003108.2	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	410					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	TTCAACTTGAGAAAGGTGGAA	0.403000													6	19					0	0	0.00307968	0	0
AAK1	22848	broad.mit.edu	37	2	69736437	69736437	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:69736437G>A	ENST00000409085.4	-	14	2308	c.1932C>T	c.(1930-1932)gtC>gtT	p.V644V	AAK1_ENST00000409068.1_Silent_p.V644V|AAK1_ENST00000406297.3_Silent_p.V644V	NM_014911.3	NP_055726.3	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	644						coated pit|mitochondrion|plasma membrane	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						GGACCCCAAAGACTGCACTGT	0.547000													10	34					0	0	0.00136819	0	0
DNAH7	56171	broad.mit.edu	37	2	196746620	196746620	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:196746620C>T	ENST00000312428.6	-	36	5960	c.5860G>A	c.(5860-5862)Gac>Aac	p.D1954N		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1954	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CGAATTGTGTCCAGAGTTGGC	0.378000													40	65					0	0	0.00170553	0	0
KLKB1	3818	broad.mit.edu	37	4	187173201	187173201	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:187173201T>C	ENST00000264690.6	+	11	1362	c.1175T>C	c.(1174-1176)gTt>gCt	p.V392A	KLKB1_ENST00000513864.1_Missense_Mutation_p.V392A	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	392	Peptidase S1.				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)		ACACGCATTGTTGGAGGAACA	0.498000													11	49					0	0	0.00185496	0	0
RPF2	84154	broad.mit.edu	37	6	111345505	111345505	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:111345505C>T	ENST00000441448.2	+	9	808	c.716C>T	c.(715-717)tCt>tTt	p.S239F		NM_032194.1	NP_115570.1	Q9H7B2	RPF2_HUMAN	ribosome production factor 2 homolog (S. cerevisiae)	239						nucleolus	protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2)	7						TATAAATTATCTATGAAAATG	0.378000													10	41					0	0	0.000673444	0	0
ZNF534	147658	broad.mit.edu	37	19	52941692	52941692	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:52941692G>A	ENST00000332323.6	+	4	1079	c.1018G>A	c.(1018-1020)Gat>Aat	p.D340N	ZNF534_ENST00000432303.2_Intron|ZNF534_ENST00000433050.1_Missense_Mutation_p.D327N|ZNF534_ENST00000301085.4_Intron	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN	zinc finger protein 534	340					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						GAAACCTTATGATTGTAAGGA	0.413000													6	10					0	0	0.00198382	0	0
KIAA1456	57604	broad.mit.edu	37	8	12879296	12879296	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:12879296C>T	ENST00000524591.2	+	5	1597	c.1108C>T	c.(1108-1110)Cct>Tct	p.P370S	KIAA1456_ENST00000447063.2_Intron	NM_001099677.1|NM_020844.2	NP_001093147.1|NP_065895.2	Q9P272	K1456_HUMAN	KIAA1456	370							methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7						AGATGATAATCCTTCTGCTAG	0.403000													20	11					0	0	0.00152264	0	0
TOR1AIP2	163590	broad.mit.edu	37	1	179815540	179815540	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:179815540T>G	ENST00000367612.3	-	6	1466	c.1079A>C	c.(1078-1080)aAg>aCg	p.K360T		NM_001199260.1|NM_145034.4	NP_001186189.1|NP_659471.1	Q8NFQ8	TOIP2_HUMAN	torsin A interacting protein 2	360						endoplasmic reticulum membrane|integral to membrane	protein binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(10)|ovary(1)|skin(2)	18						CACAGCAGCCTTCTGGCCATT	0.512000													10	45					0	0	0.00136819	0	0
PLA2G4E	123745	broad.mit.edu	37	15	42276774	42276774	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:42276774G>A	ENST00000399518.3	-	19	2732	c.2246C>T	c.(2245-2247)cCc>cTc	p.P749L	PLA2G4E_ENST00000413860.2_Missense_Mutation_p.P720L|CTD-2382E5.1_ENST00000499478.2_RNA	NM_001206670.1	NP_001193599.1	Q3MJ16	PA24E_HUMAN	phospholipase A2, group IVE	737	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		TTTGGGGAAGGGGATGTTCTG	0.527000													7	18					0	0	0.00307968	0	0
SIM1	6492	broad.mit.edu	37	6	100841367	100841367	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:100841367G>A	ENST00000369208.3	-	11	2348	c.1566C>T	c.(1564-1566)atC>atT	p.I522I	SIM1_ENST00000262901.4_Silent_p.I522I			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	522	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		TCTTACCATGGATCCTGTGGA	0.527000													9	37					0	0	0.000978159	0	0
PAM	5066	broad.mit.edu	37	5	102343270	102343270	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:102343270C>T	ENST00000438793.3	+	19	2594	c.2124C>T	c.(2122-2124)atC>atT	p.I708I	PAM_ENST00000304400.7_Silent_p.I708I|PAM_ENST00000274392.9_Silent_p.I611I|PAM_ENST00000379787.4_Silent_p.I88I|PAM_ENST00000348126.2_Silent_p.I601I|PAM_ENST00000346918.2_Silent_p.I708I|PAM_ENST00000455264.2_Silent_p.I708I	NM_000919.3|NM_001177306.1|NM_138766.2	NP_000910.2|NP_001170777.1|NP_620121.1	P19021	AMD_HUMAN	peptidylglycine alpha-amidating monooxygenase	708	Peptidyl-alpha-hydroxyglycine alpha- amidating lyase (By similarity).				peptide metabolic process|protein modification process	extracellular region|integral to membrane|stored secretory granule	L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	ATGGTCGGATCCAGTGTTTTA	0.428000													18	39					0	0	0.000958276	0	0
CD226	10666	broad.mit.edu	37	18	67563141	67563141	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:67563141G>A	ENST00000280200.4	-	4	791	c.523C>T	c.(523-525)Ctc>Ttc	p.L175F	CD226_ENST00000577287.1_Missense_Mutation_p.L20F|CD226_ENST00000582621.1_Missense_Mutation_p.L175F|CD226_ENST00000581982.1_Missense_Mutation_p.L20F	NM_006566.2	NP_006557.2	Q15762	CD226_HUMAN	CD226 molecule	175	Ig-like C2-type 2.				cell adhesion|cell recognition|positive regulation of Fc receptor mediated stimulatory signaling pathway|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	cell surface|integral to plasma membrane|membrane raft	cell adhesion molecule binding|integrin binding|protein kinase binding|receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	24		Esophageal squamous(42;0.129)				TAAGTTAAGAGGTCGATCTGA	0.517000													11	46					0	0	0.00185496	0	0
PTPRD	5789	broad.mit.edu	37	9	8528669	8528669	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:8528669G>A	ENST00000381196.4	-	12	1006	c.463C>T	c.(463-465)Cca>Tca	p.P155S	PTPRD_ENST00000355233.5_Missense_Mutation_p.P155S|PTPRD_ENST00000463477.1_Missense_Mutation_p.P155S|PTPRD_ENST00000537002.1_Missense_Mutation_p.P155S|PTPRD_ENST00000397617.3_Missense_Mutation_p.P155S|PTPRD_ENST00000360074.4_Missense_Mutation_p.P155S|PTPRD_ENST00000486161.1_Missense_Mutation_p.P155S|PTPRD_ENST00000356435.5_Missense_Mutation_p.P155S|PTPRD_ENST00000397606.3_Missense_Mutation_p.P155S|PTPRD_ENST00000397611.3_Missense_Mutation_p.P155S|PTPRD_ENST00000540109.1_Missense_Mutation_p.P155S|PTPRD_ENST00000358503.5_Missense_Mutation_p.P155S	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	155	Ig-like C2-type 2.				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)		GTGATTTCTGGATCCGGATTA	0.488000										TSP Lung(15;0.13)			8	17					0	0	0.000274275	0	0
DYSF	8291	broad.mit.edu	37	2	71871175	71871175	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:71871175G>A	ENST00000258104.3	+	41	4768	c.4491G>A	c.(4489-4491)aaG>aaA	p.K1497K	DYSF_ENST00000409366.1_Silent_p.K1519K|DYSF_ENST00000394120.2_Silent_p.K1498K|DYSF_ENST00000409651.1_Silent_p.K1529K|DYSF_ENST00000413539.2_Silent_p.K1528K|DYSF_ENST00000410020.3_Silent_p.K1536K|DYSF_ENST00000410041.1_Silent_p.K1515K|DYSF_ENST00000409762.1_Silent_p.K1514K|DYSF_ENST00000409582.3_Silent_p.K1535K|DYSF_ENST00000409744.1_Silent_p.K1505K|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000429174.2_Silent_p.K1518K	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1497						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						ACCTGGAGAAGGATTTTGACA	0.512000													7	5					0	0	0.000442599	0	0
FGD2	221472	broad.mit.edu	37	6	36995831	36995831	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:36995831C>T	ENST00000274963.8	+	16	2031	c.1860C>T	c.(1858-1860)acC>acT	p.T620T		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	620	PH 2.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						AGCTCTACACCTTCAAGGCCG	0.677000													8	34					0	0	0.000274275	0	0
ISLR	3671	broad.mit.edu	37	15	74467801	74467801	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:74467801C>T	ENST00000249842.3	+	2	959	c.602C>T	c.(601-603)tCc>tTc	p.S201F	ISLR_ENST00000395118.1_Missense_Mutation_p.S201F|RP11-665J16.1_ENST00000561647.1_RNA	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN	immunoglobulin superfamily containing leucine-rich repeat	201	LRRCT.				cell adhesion	extracellular region				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						ACGGCCGTGTCCATCCCGGAG	0.667000													10	16					0	0	0.00136819	0	0
C3orf20	84077	broad.mit.edu	37	3	14763165	14763165	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:14763165T>A	ENST00000253697.3	+	10	1892	c.1440T>A	c.(1438-1440)aaT>aaA	p.N480K	C3orf20_ENST00000495387.1_3'UTR|C3orf20_ENST00000435614.1_Missense_Mutation_p.N358K|C3orf20_ENST00000412910.1_Missense_Mutation_p.N358K	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	480						cytoplasm|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						TACAGGTGAATGAGGAAATGA	0.512000													11	41					0	0	0.00185496	0	0
MYO15A	51168	broad.mit.edu	37	17	18022511	18022511	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:18022511G>A	ENST00000205890.5	+	2	735	c.397G>A	c.(397-399)Gcc>Acc	p.A133T		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	133	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)					AGCGTCCACGGCCATCAACTG	0.662000													28	7					0	0	0.001512	0	0
FNDC4	64838	broad.mit.edu	37	2	27715583	27715583	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:27715583C>T	ENST00000264703.3	-	6	1010	c.619G>A	c.(619-621)Gga>Aga	p.G207R		NM_022823.2	NP_073734.1	Q9H6D8	FNDC4_HUMAN	fibronectin type III domain containing 4	207						integral to membrane				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|prostate(1)|skin(1)	9	Acute lymphoblastic leukemia(172;0.155)					GGCCCCTTTCCCTTCTCCTTG	0.547000													24	48					0	0	0.000878237	0	0
GCOM1	145781	broad.mit.edu	37	15	57910298	57910298	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:57910298G>A	ENST00000574161.1	+	3	349	c.230G>A	c.(229-231)cGa>cAa	p.R77Q	GCOM1_ENST00000587652.1_Missense_Mutation_p.R77Q|GCOM1_ENST00000396180.1_Missense_Mutation_p.R77Q|POLR2M_ENST00000380563.2_5'UTR|GCOM1_ENST00000380561.2_Missense_Mutation_p.R77Q|MYZAP_ENST00000380565.4_Missense_Mutation_p.R77Q|MYZAP_ENST00000267853.5_Missense_Mutation_p.R77Q|GCOM1_ENST00000380560.2_Missense_Mutation_p.R77Q|GCOM1_ENST00000380568.3_Missense_Mutation_p.R77Q|GCOM1_ENST00000572390.1_Missense_Mutation_p.R77Q|GCOM1_ENST00000380569.2_Missense_Mutation_p.R77Q	NM_001018100.3	NP_001018110.1	P0CAP1	GCOM1_HUMAN		77					intracellular signal transduction	extrinsic to internal side of plasma membrane|I band				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						GGTGTGGTGCGAAGATCAGAT	0.408000													9	23					0	0	0.000673444	0	0
HEPHL1	341208	broad.mit.edu	37	11	93796841	93796841	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:93796841G>A	ENST00000315765.9	+	3	591	c.583G>A	c.(583-585)Gac>Aac	p.D195N		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	195	Plastocyanin-like 1.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				CGCCCCAAAGGACATCTGCTC	0.527000													5	18					0	0	0.00307968	0	0
SPTBN4	57731	broad.mit.edu	37	19	41071430	41071430	+	Missense_Mutation	SNP	G	G	A	rs139699793	byFrequency	TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:41071430G>A	ENST00000352632.3	+	28	6103	c.6017G>A	c.(6016-6018)cGa>cAa	p.R2006Q	SPTBN4_ENST00000598249.1_Missense_Mutation_p.R2006Q|SPTBN4_ENST00000338932.3_Missense_Mutation_p.R2006Q|SPTBN4_ENST00000392025.1_Missense_Mutation_p.R749Q			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	2006					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	p.R2006P(1)		breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GAGCTGGGGCGATCTCTGCTG	0.632000													6	11					0	0	0.00307968	0	0
DNAH7	56171	broad.mit.edu	37	2	196883959	196883959	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:196883959C>T	ENST00000312428.6	-	9	904	c.804G>A	c.(802-804)agG>agA	p.R268R	DNAH7_ENST00000410072.1_Silent_p.R268R	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	268	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TCAAGTGATCCCTAATATAAC	0.338000													15	86					0	0	0.00400662	0	0
SYTL2	54843	broad.mit.edu	37	11	85436478	85436478	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:85436478G>A	ENST00000359152.5	-	1	2593	c.2594C>T	c.(2593-2595)cCa>cTa	p.P865L	SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000528231.1_Intron|SYTL2_ENST00000525423.1_Missense_Mutation_p.P341L|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000354566.3_Missense_Mutation_p.P341L|SYTL2_ENST00000527523.1_Intron	NM_206928.2	NP_996811.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	0	C2 2.				intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		TGGATCCAATGGATGAGAATC	0.473000													8	39					0	0	0.00307968	0	0
ABLIM1	3983	broad.mit.edu	37	10	116232792	116232792	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:116232792C>G	ENST00000369252.4	-	10	1340	c.1039G>C	c.(1039-1041)Gag>Cag	p.E347Q	ABLIM1_ENST00000392952.3_Missense_Mutation_p.E119Q|ABLIM1_ENST00000277895.5_Missense_Mutation_p.E407Q|ABLIM1_ENST00000369253.2_Missense_Mutation_p.E65Q|ABLIM1_ENST00000533213.2_Missense_Mutation_p.E347Q|ABLIM1_ENST00000369266.3_Missense_Mutation_p.E119Q	NM_001003407.1|NM_001003408.1	NP_001003407.1|NP_001003408.1	O14639	ABLM1_HUMAN	actin binding LIM protein 1	407					axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		TAGAAAGGCTCATAGGTAATA	0.418000													19	69					0	0	0.00121646	0	0
JUP	3728	broad.mit.edu	37	17	39776940	39776940	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:39776940G>A	ENST00000540235.1	-	9	1628	c.1629C>T	c.(1627-1629)taC>taT	p.Y543Y	KRT17_ENST00000311208.8_Silent_p.Y384Y			P14923	PLAK_HUMAN	junction plakoglobin	0					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)		GCAGGCGGCGGTAGGTGGCAA	0.632000													9	31					0	0	0.000673444	0	0
OR2L8	391190	broad.mit.edu	37	1	248112298	248112298	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:248112298C>T	ENST00000357191.3	+	1	139	c.139C>T	c.(139-141)Ctc>Ttc	p.L47F	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	47					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			CATGATTCTTCTCATCTTCTT	0.413000													24	122					0	0	0.000720815	0	0
MXRA5	25878	broad.mit.edu	37	X	3228008	3228008	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:3228008G>A	ENST00000217939.6	-	7	8390	c.8236C>T	c.(8236-8238)Cgg>Tgg	p.R2746W		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2746	Ig-like C2-type 12.					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)				TTCCCGGGCCGGGTGTAGATG	0.597000													8	27					0	0	0.000274275	0	0
CLSPN	63967	broad.mit.edu	37	1	36230872	36230872	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:36230872G>A	ENST00000251195.5	-	2	176	c.80C>T	c.(79-81)cCt>cTt	p.P27L	CLSPN_ENST00000318121.3_Missense_Mutation_p.P27L|CLSPN_ENST00000520551.1_Missense_Mutation_p.P27L|CLSPN_ENST00000373220.3_Missense_Mutation_p.P27L			Q9HAW4	CLSPN_HUMAN	claspin	27					activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	anaphase-promoting complex binding|DNA binding			NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				ACTATCTGAAGGACTATCTGC	0.408000													55	75					0	0	0.00361006	0	0
MROH9	80133	broad.mit.edu	37	1	170967540	170967540	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:170967540G>A	ENST00000367758.3	+	15	1820	c.1721G>A	c.(1720-1722)tGa>tAa	p.*574*	MROH9_ENST00000367759.4_Intron	NM_025063.2	NP_079339.2			maestro heat-like repeat family member 9																		TTAAGATCATGAAAGATATCT	0.408000													4	16					0	0	0.00024832	0	0
SERINC3	10955	broad.mit.edu	37	20	43142616	43142616	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:43142616G>A	ENST00000342374.4	-	2	262	c.105C>T	c.(103-105)tcC>tcT	p.S35S	SERINC3_ENST00000255175.1_Silent_p.S35S|SERINC3_ENST00000468234.1_5'UTR|SERINC3_ENST00000541235.1_5'UTR	NM_006811.2	NP_006802.1	Q13530	SERC3_HUMAN	serine incorporator 3	35						integral to membrane|plasma membrane	protein binding			endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)			GAGTCACCGTGGAATTCTTAC	0.478000													14	71					0	0	0.000566183	0	0
RABGGTA	5875	broad.mit.edu	37	14	24739638	24739638	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:24739638G>A	ENST00000399409.3	-	3	624	c.141C>T	c.(139-141)tcC>tcT	p.S47S	RABGGTA_ENST00000216840.6_Silent_p.S47S|RABGGTA_ENST00000559586.1_5'UTR	NM_004581.5	NP_004572.3	Q92696	PGTA_HUMAN	Rab geranylgeranyltransferase, alpha subunit	47					visual perception		Rab geranylgeranyltransferase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	12				GBM - Glioblastoma multiforme(265;0.0184)		GTTCCAGCACGGACTCATCCA	0.502000													7	19					0	0	0.00307968	0	0
IGHV1-46	28465	broad.mit.edu	37	14	106967307	106967307	+	RNA	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:106967307C>T	ENST00000390622.2	-	0	396																											CCCCAGGCTTCTTCACCTCAG	0.557000													6	17					0	0	0.00198382	0	0
ZBTB45	84878	broad.mit.edu	37	19	59028308	59028308	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:59028308G>A	ENST00000594051.1	-	2	1213	c.733C>T	c.(733-735)Ctc>Ttc	p.L245F	ZBTB45_ENST00000600990.1_Missense_Mutation_p.L245F|ZBTB45_ENST00000354590.3_Missense_Mutation_p.L245F			Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	245					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		GCAGCAGTGAGGAAGCCAGCA	0.652000											OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	33	112					0	0	0.000953801	0	0
VIPR2	7434	broad.mit.edu	37	7	158829453	158829453	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:158829453C>T	ENST00000262178.2	-	7	923	c.738G>A	c.(736-738)ctG>ctA	p.L246L	VIPR2_ENST00000402066.1_Silent_p.L387L|VIPR2_ENST00000377633.3_Silent_p.L230L	NM_003382.4	NP_003373.2	P41587	VIPR2_HUMAN	vasoactive intestinal peptide receptor 2	246					cell-cell signaling	integral to plasma membrane				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)		CCCATCCGATCAGGAGGTAGG	0.572000													5	18					0	0	0.000602214	0	0
SLC22A6	9356	broad.mit.edu	37	11	62749455	62749455	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:62749455C>T	ENST00000377871.3	-	4	922	c.656G>A	c.(655-657)cGg>cAg	p.R219Q	SLC22A6_ENST00000458333.2_Missense_Mutation_p.R219Q|SLC22A6_ENST00000537349.1_5'UTR|SLC22A6_ENST00000421062.2_Missense_Mutation_p.R219Q|SLC22A6_ENST00000360421.4_Missense_Mutation_p.R219Q	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	219					alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						CACGCAGGCCCGTGTGTGAAT	0.607000													8	8					0	0	0.00136819	0	0
PNMAL1	55228	broad.mit.edu	37	19	46974208	46974208	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:46974208C>T	ENST00000313683.10	-	2	390	c.85G>A	c.(85-87)Ggc>Agc	p.G29S	PNMAL1_ENST00000438932.2_Missense_Mutation_p.G29S|PNMAL1_ENST00000602246.1_Missense_Mutation_p.G29S	NM_001103149.1|NM_018215.3	NP_001096619.1|NP_060685.2	Q86V59	PNML1_HUMAN	paraneoplastic Ma antigen family-like 1	29										cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		tctgggatgcctgtgaccaac	0.552000													10	39					0	0	0.000978159	0	0
TAS2R38	5726	broad.mit.edu	37	7	141672621	141672621	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:141672621G>A	ENST00000547270.1	-	1	952	c.869C>T	c.(868-870)cCc>cTc	p.P290L		NM_176817.4	NP_789787.4	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	290					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)					ATGCCCAGAGGGACAAGCTGC	0.532000													5	47					0	0	0.00198382	0	0
TAX1BP1	8887	broad.mit.edu	37	7	27835784	27835784	+	Silent	SNP	C	C	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:27835784C>A	ENST00000396319.2	+	12	1672	c.1584C>A	c.(1582-1584)acC>acA	p.T528T	TAX1BP1_ENST00000409980.1_Silent_p.T528T|TAX1BP1_ENST00000543117.1_Silent_p.T528T|TAX1BP1_ENST00000433216.2_Silent_p.T371T|TAX1BP1_ENST00000265393.6_Silent_p.T528T	NM_006024.6	NP_006015.4	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I) binding protein 1	528					anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production	cytosol	identical protein binding|kinase binding|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31			GBM - Glioblastoma multiforme(3;0.0823)			GTGAAATGACCAAAGAAATTG	0.318000													17	427					0.000958276	0.00276979	0.000958276	1	0
HECW2	57520	broad.mit.edu	37	2	197081767	197081767	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:197081767T>A	ENST00000260983.2	-	27	4641	c.4459A>T	c.(4459-4461)Aga>Tga	p.R1487*	HECW2_ENST00000409111.1_Nonsense_Mutation_p.R1131*	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	1487	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						TTGTTGAATCTTTCCACTGCA	0.328000													20	79					0	0	0.00395357	0	0
OR9A2	135924	broad.mit.edu	37	7	142723401	142723401	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:142723401C>T	ENST00000350513.2	-	1	881	c.819G>A	c.(817-819)ttG>ttA	p.L273L		NM_001001658.1	NP_001001658.1	Q8NGT5	OR9A2_HUMAN	olfactory receptor, family 9, subfamily A, member 2	273					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3)	25	Melanoma(164;0.059)					ACACAGAAACCAACAGGGAAA	0.458000													8	75					0	0	0.00307968	0	0
CNR1	1268	broad.mit.edu	37	6	88854382	88854382	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:88854382C>T	ENST00000537554.1	-	2	4174	c.612G>A	c.(610-612)gtG>gtA	p.V204V	CNR1_ENST00000428600.2_Silent_p.V204V|CNR1_ENST00000549890.1_Silent_p.V204V|CNR1_ENST00000549716.1_Silent_p.V143V|CNR1_ENST00000369499.2_Silent_p.V204V|CNR1_ENST00000369501.2_Silent_p.V204V|CNR1_ENST00000468898.1_Silent_p.V171V|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000535130.1_Silent_p.V204V	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	204					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	ACAGGCTGCCCACGGAGGCAG	0.557000													8	20					0	0	0.000274275	0	0
TKT	7086	broad.mit.edu	37	3	53259838	53259838	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:53259838C>T	ENST00000462138.1	-	14	1894	c.1806G>A	c.(1804-1806)ctG>ctA	p.L602L	TKT_ENST00000461139.1_5'UTR|TKT_ENST00000423516.1_Silent_p.L610L|TKT_ENST00000296289.6_Silent_p.L555L|TKT_ENST00000423525.2_Silent_p.L602L			P29401	TKT_HUMAN	transketolase	602					energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|transketolase activity			endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17		Prostate(884;0.0959)		BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)	Thiamine(DB00152)	CAAACATCTTCAGCAGCTCAG	0.587000													6	18					0	0	0.00307968	0	0
EMR2	30817	broad.mit.edu	37	19	14877890	14877890	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:14877890G>A	ENST00000315576.3	-	6	838	c.387C>T	c.(385-387)ctC>ctT	p.L129L	EMR2_ENST00000392967.2_Silent_p.L129L|EMR2_ENST00000601345.1_Silent_p.L129L|EMR2_ENST00000596991.2_Silent_p.L129L|EMR2_ENST00000392964.3_5'UTR|EMR2_ENST00000595839.1_Intron|EMR2_ENST00000353005.1_Intron|EMR2_ENST00000594076.1_Intron|EMR2_ENST00000594294.1_Silent_p.L129L|EMR2_ENST00000392965.3_Silent_p.L129L|EMR2_ENST00000353876.1_Intron|EMR2_ENST00000346057.1_Silent_p.L129L	NM_013447.2	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	129	EGF-like 3; calcium-binding.				cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						AGCTTTTACAGAGCCTTGGGT	0.587000													9	62					0	0	0.000442599	0	0
MFAP3	4238	broad.mit.edu	37	5	153432814	153432814	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:153432814C>T	ENST00000436816.1	+	3	849	c.630C>T	c.(628-630)acC>acT	p.T210T	MFAP3_ENST00000439768.2_Silent_p.T64T|MFAP3_ENST00000322602.5_Silent_p.T210T	NM_001242336.1|NM_005927.4	NP_001229265.1|NP_005918.1	P55082	MFAP3_HUMAN	microfibrillar-associated protein 3	210						integral to membrane|plasma membrane				breast(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)	7	Renal(175;0.00488)	Lung NSC(249;0.00145)|all_lung(500;0.00226)|all_neural(177;0.122)|Breast(839;0.14)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;9.69e-06)|GBM - Glioblastoma multiforme(465;0.0201)		CCATCATTACCTCAGCCAAAA	0.448000													12	27					0	0	0.000978159	0	0
C7orf31	136895	broad.mit.edu	37	7	25176355	25176355	+	Nonsense_Mutation	SNP	G	G	A	rs146941527	byFrequency	TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:25176355G>A	ENST00000409280.1	-	10	1317	c.1009C>T	c.(1009-1011)Cga>Tga	p.R337*	C7orf31_ENST00000283905.3_Nonsense_Mutation_p.R337*			Q8N865	CG031_HUMAN	chromosome 7 open reading frame 31	337										autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						TGAATTAATCGGGCAATTCGT	0.428000													23	164					0	0	0.000720815	0	0
C17orf104	284071	broad.mit.edu	37	17	42745168	42745168	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:42745168C>T	ENST00000409122.2	+	5	2031	c.1889C>T	c.(1888-1890)tCa>tTa	p.S630L	C17orf104_ENST00000359945.3_Missense_Mutation_p.S630L|C17orf104_ENST00000409464.1_Missense_Mutation_p.S464L	NM_001145080.2	NP_001138552.2	A2RUB1	CQ104_HUMAN	chromosome 17 open reading frame 104	630										autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|skin(1)	24						GATGGCTTATCACAAAATACA	0.413000													7	41					0	0	0.00198382	0	0
RHBDD3	25807	broad.mit.edu	37	22	29656401	29656401	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr22:29656401C>T	ENST00000216085.7	-	6	1321	c.897G>A	c.(895-897)gaG>gaA	p.E299E		NM_012265.1	NP_036397.1	Q9Y3P4	RHBD3_HUMAN	rhomboid domain containing 3	299						integral to membrane	serine-type endopeptidase activity			lung(1)|ovary(1)	2						CCTGGATGCCCTCCTGCAGCA	0.667000													10	7					0	0	0.000978159	0	0
UBE3B	89910	broad.mit.edu	37	12	109945401	109945401	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:109945401C>T	ENST00000342494.3	+	15	2078	c.1483C>T	c.(1483-1485)Ctg>Ttg	p.L495L	UBE3B_ENST00000280774.5_Silent_p.L495L|UBE3B_ENST00000535900.1_3'UTR|UBE3B_ENST00000434735.2_Silent_p.L495L	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	495					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						GCTTCCCAAACTGTGGGCATT	0.493000													12	58					0	0	0.00185496	0	0
DDI1	414301	broad.mit.edu	37	11	103908641	103908641	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:103908641G>A	ENST00000302259.3	+	1	1334	c.1091G>A	c.(1090-1092)gGa>gAa	p.G364E	PDGFD_ENST00000393158.2_Intron|PDGFD_ENST00000302251.5_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	364					proteolysis		aspartic-type endopeptidase activity			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		CTTCCTGAGGGAGAGTTGCCC	0.458000													12	70					0	0	0.000978159	0	0
C12orf50	160419	broad.mit.edu	37	12	88390163	88390163	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:88390163C>T	ENST00000298699.2	-	6	649	c.469G>A	c.(469-471)Gaa>Aaa	p.E157K	C12orf50_ENST00000550553.1_Missense_Mutation_p.E157K	NM_152589.1	NP_689802.1	Q8NA57	CL050_HUMAN	chromosome 12 open reading frame 50	157										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						TCTTGCAATTCACTGCCATTT	0.343000													14	30					0	0	0.00316338	0	0
INSC	387755	broad.mit.edu	37	11	15222432	15222432	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:15222432C>T	ENST00000379554.3	+	7	943	c.897C>T	c.(895-897)ccC>ccT	p.P299P	INSC_ENST00000525218.1_Intron|INSC_ENST00000528567.1_Silent_p.P252P|INSC_ENST00000530161.1_Silent_p.P252P|INSC_ENST00000447214.2_Intron|INSC_ENST00000424273.1_Intron|INSC_ENST00000379556.3_Silent_p.P252P	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	299					cell differentiation|nervous system development	cytoplasm	binding			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						GCTTGTACCCCCAGGCGCTCC	0.587000													4	11					0	0	0.000602214	0	0
CATSPERD	257062	broad.mit.edu	37	19	5748226	5748226	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:5748226C>T	ENST00000381624.3	+	10	925	c.864C>T	c.(862-864)tcC>tcT	p.S288S	CATSPERD_ENST00000381614.2_5'UTR	NM_152784.3	NP_689997.3	Q86XM0	TM146_HUMAN	catsper channel auxiliary subunit delta	288						integral to membrane											TGTTTTCTTCCATTTTTGAAG	0.507000													13	86					0	0	0.000566183	0	0
HCRTR2	3062	broad.mit.edu	37	6	55039502	55039502	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:55039502C>T	ENST00000370862.3	+	1	453	c.117C>T	c.(115-117)ttC>ttT	p.F39F		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	39					feeding behavior	integral to plasma membrane	neuropeptide receptor activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			ACGAGGAATTCCTGCGGTACC	0.542000													16	35					0	0	0.00074312	0	0
CHD3	1107	broad.mit.edu	37	17	7811272	7811272	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:7811272G>A	ENST00000380358.4	+	34	5265	c.5264G>A	c.(5263-5265)gGg>gAg	p.G1755E	CHD3_ENST00000330494.7_Missense_Mutation_p.G1696E|CHD3_ENST00000358181.4_Missense_Mutation_p.G1662E	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1696	Required for interaction with PCNT.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				CGGTCCAATGGGCGACGAGAG	0.557000													7	43					0	0	0.00198382	0	0
LRFN2	57497	broad.mit.edu	37	6	40399678	40399678	+	Missense_Mutation	SNP	G	G	A	rs143225218		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:40399678G>A	ENST00000338305.6	-	2	1717	c.1175C>T	c.(1174-1176)cCc>cTc	p.P392L		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	392						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					GCGGGACTTGGGGGGTGCAGT	0.667000													8	47					0	0	0.000673444	0	0
RUNDC1	146923	broad.mit.edu	37	17	41143109	41143109	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:41143109C>T	ENST00000361677.1	+	5	1230	c.1218C>T	c.(1216-1218)atC>atT	p.I406I		NM_173079.2	NP_775102.2	Q96C34	RUND1_HUMAN	RUN domain containing 1	406										breast(1)|large_intestine(2)|lung(4)|prostate(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		ACCATGTCATCACCTCTGCCA	0.587000													12	21					0	0	0.00244969	0	0
DEPDC4	120863	broad.mit.edu	37	12	100660750	100660750	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:100660750G>A	ENST00000416321.1	-	1	107	c.105C>T	c.(103-105)aaC>aaT	p.N35N		NM_152317.2	NP_689530.1	Q8N2C3	DEPD4_HUMAN	DEP domain containing 4	35					intracellular signal transduction					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)|urinary_tract(1)	15						AACTTGGCCCGTTCAGCCCTG	0.587000													19	53					0	0	0.00278032	0	0
ZNF235	9310	broad.mit.edu	37	19	44792819	44792819	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:44792819G>A	ENST00000291182.4	-	5	871	c.769C>T	c.(769-771)Cac>Tac	p.H257Y	ZNF235_ENST00000589248.1_Intron|ZNF235_ENST00000589799.1_Intron	NM_004234.4	NP_004225.3	Q14590	ZN235_HUMAN	zinc finger protein 235	257					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29		Prostate(69;0.0352)|all_neural(266;0.116)				TGTCCTGTGTGAATACTACGC	0.393000													7	22					0	0	0.000274275	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117368300	117368300	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:117368300G>A	ENST00000160373.3	-	17	3989	c.3898C>T	c.(3898-3900)Ccc>Tcc	p.P1300S		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1300										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		GGATCGCAGGGGGAGGGCGCC	0.517000													11	97					0	0	0.00136819	0	0
IGSF10	285313	broad.mit.edu	37	3	151161411	151161411	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:151161411G>A	ENST00000282466.3	-	5	5323	c.5324C>T	c.(5323-5325)cCt>cTt	p.P1775L		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1775	Ig-like C2-type 4.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GGTAACTGTAGGGCTTGGCCT	0.517000													7	38					0	0	0.000274275	0	0
RPP40	10799	broad.mit.edu	37	6	4998971	4998971	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:4998971G>A	ENST00000380051.2	-	5	582	c.538C>T	c.(538-540)Ctt>Ttt	p.L180F	RPP40_ENST00000464646.1_Missense_Mutation_p.L120F|RPP40_ENST00000319533.5_Missense_Mutation_p.L157F	NM_006638.2	NP_006629.2	O75818	RPP40_HUMAN	ribonuclease P/MRP 40kDa subunit	180					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity			NS(1)|breast(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	14	Ovarian(93;0.11)	all_hematologic(90;0.0895)				CAAGCCAAAAGAAAATCAAAT	0.289000													7	56					0	0	0.00307968	0	0
NADK2	133686	broad.mit.edu	37	5	36195254	36195254	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:36195254C>T	ENST00000397338.1	-	12	1053	c.832G>A	c.(832-834)Gaa>Aaa	p.E278K	NADK2_ENST00000514504.1_Missense_Mutation_p.E409K|NADK2_ENST00000511613.1_5'UTR|NADK2_ENST00000381937.4_Missense_Mutation_p.E441K|NADK2_ENST00000282512.3_Missense_Mutation_p.E278K|NADK2_ENST00000506945.1_Missense_Mutation_p.E300K					NAD kinase 2, mitochondrial																		CTTCACTGTTCAAGAAGCACA	0.363000													17	25					0	0	0.000958276	0	0
CCDC93	54520	broad.mit.edu	37	2	118766198	118766198	+	Silent	SNP	A	A	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:118766198A>G	ENST00000376300.2	-	2	216	c.79T>C	c.(79-81)Ttg>Ctg	p.L27L	AC009303.1_ENST00000590516.1_RNA|AC009303.1_ENST00000588042.1_RNA|CCDC93_ENST00000319432.5_Silent_p.L27L	NM_019044.4	NP_061917.3	Q567U6	CCD93_HUMAN	coiled-coil domain containing 93	27										breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						ATTTCAGTCAACTTGACATTT	0.378000											OREG0003819	type=REGULATORY REGION|Gene=AK025611|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	42	82					0	0	0.00361006	0	0
ARF1	375	broad.mit.edu	37	1	228284827	228284827	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:228284827C>T	ENST00000541182.1	+	2	274	c.12C>T	c.(10-12)atC>atT	p.I4I	ARF1_ENST00000478424.1_3'UTR|ARF1_ENST00000540651.1_Silent_p.I4I|ARF1_ENST00000272102.5_Silent_p.I4I	NM_001024227.1|NM_001024228.1	NP_001019398.1|NP_001019399.1	P84077	ARF1_HUMAN	ADP-ribosylation factor 1	4					cellular copper ion homeostasis|COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|protein transport|regulation of defense response to virus by virus|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction|viral reproduction	cytosol|Golgi membrane|perinuclear region of cytoplasm|plasma membrane	GTP binding|GTPase activity|protein binding|receptor signaling protein activity	p.I4M(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)	10		Prostate(94;0.0405)				TGGGGAACATCTTCGCCAACC	0.547000													11	60					0	0	0.00185496	0	0
PKLR	5313	broad.mit.edu	37	1	155265068	155265068	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:155265068A>C	ENST00000392414.3	-	5	553	c.440T>G	c.(439-441)gTg>gGg	p.V147G	PKLR_ENST00000342741.4_Missense_Mutation_p.V178G	NM_181871.3	NP_870986.1	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC	178					endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	GGAGCCCTTCACCAGCTCCAC	0.672000													11	56					0	0	0.00185496	0	0
NTN4	59277	broad.mit.edu	37	12	96052993	96052993	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:96052993C>T	ENST00000343702.4	-	10	2204	c.1756G>A	c.(1756-1758)Gaa>Aaa	p.E586K	NTN4_ENST00000538383.1_Missense_Mutation_p.E549K|NTN4_ENST00000344911.4_Missense_Mutation_p.E549K|NTN4_ENST00000553059.1_Missense_Mutation_p.E563K|PGAM1P5_ENST00000552554.1_RNA	NM_021229.3	NP_067052.2	Q9HB63	NET4_HUMAN	netrin 4	586	NTR.				axon guidance	basement membrane|plasma membrane				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						ACAAGGTATTCCAAACCTAAA	0.368000													7	45					0	0	0.00307968	0	0
INPP4A	3631	broad.mit.edu	37	2	99169312	99169312	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:99169312C>T	ENST00000074304.5	+	15	1635	c.1242C>T	c.(1240-1242)atC>atT	p.I414I	INPP4A_ENST00000409540.3_Silent_p.I414I|INPP4A_ENST00000523221.1_Silent_p.I414I|INPP4A_ENST00000545415.1_Silent_p.I414I|INPP4A_ENST00000409016.3_Silent_p.I414I|INPP4A_ENST00000409463.1_Intron|INPP4A_ENST00000409851.3_Silent_p.I409I	NM_001134224.1	NP_001127696.1	Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa	414					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						CCAAGGAGATCATCGCCCAGA	0.512000													6	13					0	0	0.00307968	0	0
BAGE2	85319	broad.mit.edu	37	21	11039328	11039328	+	RNA	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr21:11039328C>T	ENST00000470054.1	-	0	875									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)		TCCATTTTATCTTCAATTTGA	0.378000													10	170					0	0	0.00136819	0	0
DAB1	1600	broad.mit.edu	37	1	57480958	57480958	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:57480958G>A	ENST00000371236.2	-	12	1305	c.1042C>T	c.(1042-1044)Cct>Tct	p.P348S	DAB1_ENST00000371234.4_Missense_Mutation_p.P348S|DAB1_ENST00000371231.1_Missense_Mutation_p.P381S|DAB1_ENST00000420954.2_Missense_Mutation_p.P346S|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000439789.2_Missense_Mutation_p.P262S|DAB1_ENST00000414851.2_Missense_Mutation_p.P330S			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	381					cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						TGAGTGGCAGGAAAGAGACCC	0.642000													13	33					0	0	0.00244969	0	0
SLC2A2	6514	broad.mit.edu	37	3	170723244	170723244	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:170723244C>T	ENST00000314251.3	-	7	872	c.793G>A	c.(793-795)Gga>Aga	p.G265R	SLC2A2_ENST00000382808.4_Missense_Mutation_p.G146R	NM_000340.1	NP_000331.1	P11168	GTR2_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 2	265					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)			TCATCATATCCTCTGAGTCTT	0.338000													4	26					0	0	0.00116845	0	0
RAB3GAP1	22930	broad.mit.edu	37	2	135888228	135888228	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:135888228C>T	ENST00000264158.8	+	13	1216	c.1173C>T	c.(1171-1173)atC>atT	p.I391I	RAB3GAP1_ENST00000442034.1_Silent_p.I391I|RAB3GAP1_ENST00000487003.1_3'UTR|RAB3GAP1_ENST00000539493.1_Silent_p.I347I	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	391						centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		AGAAGAAAATCCGAAAACACA	0.358000													34	51					0	0	0.00428921	0	0
ANKS1A	23294	broad.mit.edu	37	6	34985818	34985818	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:34985818C>T	ENST00000360359.3	+	11	2130	c.1992C>T	c.(1990-1992)ttC>ttT	p.F664F	ANKS1A_ENST00000535627.1_Intron	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	664						cytoplasm	protein binding			cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						CACCCTCCTTCGCCTCGGAGT	0.607000													11	80					0	0	0.000978159	0	0
SPATA31D1	389763	broad.mit.edu	37	9	84604719	84604719	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:84604719G>A	ENST00000344803.2	+	2	260	c.213G>A	c.(211-213)agG>agA	p.R71R		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		AGAGGAGAAGGAAAGGTGGGA	0.458000													7	18					0	0	0.00307968	0	0
UGT2B4	7363	broad.mit.edu	37	4	70346364	70346364	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:70346364C>T	ENST00000305107.6	-	6	1621	c.1575G>A	c.(1573-1575)ggG>ggA	p.G525G	UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000381096.3_Silent_p.G389G|UGT2B4_ENST00000512583.1_3'UTR	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	525					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						AATCTCTTTTCCCCTTCTTTC	0.408000													9	36					0	0	0.000978159	0	0
ZNF222	7673	broad.mit.edu	37	19	44536030	44536030	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:44536030C>T	ENST00000187879.8	+	4	365	c.203C>T	c.(202-204)tCc>tTc	p.S68F	ZNF223_ENST00000591793.1_Intron|ZNF222_ENST00000391960.3_Missense_Mutation_p.S108F	NM_013360.2	NP_037492.2	Q9UK12	ZN222_HUMAN	zinc finger protein 222	68	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20		Prostate(69;0.0435)				GAAGAATTTTCCTGCAAGCAA	0.423000													11	37					0	0	0.00400662	0	0
THSD7B	80731	broad.mit.edu	37	2	137814319	137814319	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:137814319G>A	ENST00000409968.1	+	3	647	c.469G>A	c.(469-471)Gaa>Aaa	p.E157K	THSD7B_ENST00000272643.3_Missense_Mutation_p.E157K|THSD7B_ENST00000543459.1_Missense_Mutation_p.E16K|THSD7B_ENST00000413152.2_Missense_Mutation_p.E126K					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GGTTGCAAATGAAATATGCGA	0.522000													14	35					0	0	0.00244969	0	0
SSRP1	6749	broad.mit.edu	37	11	57100164	57100164	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:57100164G>A	ENST00000278412.2	-	6	969	c.703C>T	c.(703-705)Ccc>Tcc	p.P235S		NM_003146.2	NP_003137.1	Q08945	SSRP1_HUMAN	structure specific recognition protein 1	235					DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|cytoplasm|nucleoplasm	DNA binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						GTGGTGTAGGGGATCTTGTAG	0.522000													6	20					0	0	0.00116845	0	0
OR2A2	442361	broad.mit.edu	37	7	143807311	143807311	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:143807311G>A	ENST00000408979.2	+	1	705	c.636G>A	c.(634-636)ttG>ttA	p.L212L		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	212					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					CTCTTTCCTTGATTCTGGTCT	0.527000													39	28					0	0	0.00321405	0	0
RIOK1	83732	broad.mit.edu	37	6	7403054	7403054	+	Missense_Mutation	SNP	C	C	T	rs138314843		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:7403054C>T	ENST00000379834.2	+	8	1198	c.691C>T	c.(691-693)Cgt>Tgt	p.R231C		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	231	Protein kinase.						ATP binding|protein serine/threonine kinase activity	p.R224C(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					TTCAAGATTTCGTCATGGCTA	0.318000													10	69					0	0	0.00136819	0	0
SYNE1	23345	broad.mit.edu	37	6	152737772	152737772	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:152737772G>A	ENST00000367255.5	-	41	6401	c.5800C>T	c.(5800-5802)Caa>Taa	p.Q1934*	SYNE1_ENST00000423061.1_Nonsense_Mutation_p.Q1941*|SYNE1_ENST00000448038.1_Nonsense_Mutation_p.Q1941*|SYNE1_ENST00000341594.5_Nonsense_Mutation_p.Q1971*|SYNE1_ENST00000265368.4_Nonsense_Mutation_p.Q1934*	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1934					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGATGGTATTGGGCTTTGGAA	0.483000										HNSCC(10;0.0054)			21	30					0	0	0.00229938	0	0
PIK3CB	5291	broad.mit.edu	37	3	138474786	138474786	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:138474786G>A	ENST00000477593.1	-	3	280	c.207C>T	c.(205-207)ttC>ttT	p.F69F	PIK3CB_ENST00000289153.2_Silent_p.F69F			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	69	PI3K-ABD.				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						TAAGGAGGTTGAACATTGGGT	0.368000													90	300					0	0	0.00361006	0	0
SPEF2	79925	broad.mit.edu	37	5	35659285	35659285	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:35659285C>T	ENST00000440995.2	+	8	1143	c.1143C>T	c.(1141-1143)ttC>ttT	p.F381F	SPEF2_ENST00000356031.3_Silent_p.F381F|SPEF2_ENST00000282469.6_Silent_p.F381F|SPEF2_ENST00000509059.1_Silent_p.F381F			Q9C093	SPEF2_HUMAN	sperm flagellar 2	381					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTAAAGATTTCCAGGATGCTC	0.383000													10	29					0	0	0.00316338	0	0
CCDC40	55036	broad.mit.edu	37	17	78069143	78069143	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:78069143A>C	ENST00000397545.4	+	18	2941	c.2914A>C	c.(2914-2916)Acc>Ccc	p.T972P		NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	972					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			AGAGACCGTCACCACCCAGGC	0.637000													12	34					0	0	0.00244969	0	0
SYTL2	54843	broad.mit.edu	37	11	85420375	85420375	+	Splice_Site	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:85420375G>A	ENST00000359152.5	-	6	4536	c.4538_splice	c.e6+1	p.P1513_splice	SYTL2_ENST00000389960.4_Splice_Site_p.P643_splice|SYTL2_ENST00000389958.3_Splice_Site_p.P98_splice|SYTL2_ENST00000316356.4_Splice_Site_p.P668_splice|SYTL2_ENST00000528231.1_Splice_Site_p.P667_splice|SYTL2_ENST00000525423.1_Splice_Site_p.P989_splice|SYTL2_ENST00000524452.1_Splice_Site_p.P643_splice|SYTL2_ENST00000354566.3_Splice_Site_p.P1005_splice|SYTL2_ENST00000533892.1_Splice_Site_p.P69_splice|SYTL2_ENST00000529581.1_Splice_Site_p.P109_splice|SYTL2_ENST00000527523.1_Splice_Site_p.P635_splice|SYTL2_ENST00000525702.1_Splice_Site_p.P109_splice	NM_206928.2	NP_996811.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	667					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		TGTACTTACGGGTCTGAACGC	0.418000													36	73					0	0	0.00195071	0	0
TNFRSF21	27242	broad.mit.edu	37	6	47251714	47251714	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:47251714G>A	ENST00000296861.2	-	3	1596	c.1203C>T	c.(1201-1203)acC>acT	p.T401T		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	401					cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			CCCGGTTCTGGGTTGGAGTCA	0.527000													10	68					0	0	0.000673444	0	0
MTL5	9633	broad.mit.edu	37	11	68478377	68478377	+	Silent	SNP	C	C	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:68478377C>G	ENST00000255087.5	-	9	1482	c.1299G>C	c.(1297-1299)acG>acC	p.T433T		NM_004923.3	NP_004914.2	Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific (tesmin)	433					cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis	cytoplasm|nucleus|soluble fraction	metal ion binding			breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			CTGAAAATTTCGTTGGTGGCA	0.423000													7	32					0	0	0.00198382	0	0
FOLH1	2346	broad.mit.edu	37	11	49208293	49208293	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:49208293C>T	ENST00000340334.7	-	6	865	c.497G>A	c.(496-498)cGa>cAa	p.R166Q	FOLH1_ENST00000356696.3_Missense_Mutation_p.R181Q|FOLH1_ENST00000343844.4_5'UTR|FOLH1_ENST00000256999.2_Missense_Mutation_p.R181Q|FOLH1_ENST00000533034.1_Missense_Mutation_p.R166Q	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	181					proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	GTCTTCAGTTCGTGCATAGTT	0.383000													22	75					0	0	0.00395357	0	0
KRTAP11-1	337880	broad.mit.edu	37	21	32253760	32253760	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr21:32253760C>T	ENST00000332378.4	-	1	114	c.84G>A	c.(82-84)acG>acA	p.T28T		NM_175858.2	NP_787054.1	Q8IUC1	KR111_HUMAN	keratin associated protein 11-1	28						keratin filament	structural molecule activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1)	18						TGGTGGAAGTCGTGGTAACTT	0.557000													9	25					0	0	0.000673444	0	0
CTAGE1	64693	broad.mit.edu	37	18	19996547	19996547	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:19996547C>T	ENST00000391403.2	-	1	1331	c.1228G>A	c.(1228-1230)Gaa>Aaa	p.E410K		NM_172241.2	NP_758441.2	Q96RT6	CTGE2_HUMAN	cutaneous T-cell lymphoma-associated antigen 1	410						integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					TTCTCAAATTCTTTAAGATCT	0.388000													31	213					0	0	0.0024448	0	0
TRIM6-TRIM34	445372	broad.mit.edu	37	11	5653872	5653872	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:5653872T>G	ENST00000354852.5	+	8	1546	c.1373T>G	c.(1372-1374)cTc>cGc	p.L458R	TRIM6-TRIM34_ENST00000457787.2_Missense_Mutation_p.L104R|TRIM34_ENST00000514226.1_Missense_Mutation_p.L104R|HBG2_ENST00000380259.2_Intron|TRIM34_ENST00000429814.2_Missense_Mutation_p.L104R	NM_001003819.3	NP_001003819.1	B2RNG4	B2RNG4_HUMAN		458						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(9)|ovary(1)|prostate(2)|stomach(2)|urinary_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145)		GGAGAGAAACTCCTACTCTTC	0.493000													3	13					0	0	6.4e-05	0	0
FLG2	388698	broad.mit.edu	37	1	152325161	152325161	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:152325161C>T	ENST00000388718.5	-	3	5173	c.5101G>A	c.(5101-5103)Gat>Aat	p.D1701N	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1701							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTAGTGGTATCTCCTGTCTGT	0.488000													15	81					0	0	0.00316338	0	0
ARAF	369	broad.mit.edu	37	X	47426506	47426506	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:47426506C>T	ENST00000377045.4	+	9	1043	c.849C>T	c.(847-849)tcC>tcT	p.S283S	ARAF_ENST00000290277.6_3'UTR	NM_001256196.1|NM_001654.4	NP_001243125.1|NP_001645.1	P10398	ARAF_HUMAN	v-raf murine sarcoma 3611 viral oncogene homolog	283					intracellular signal transduction|negative regulation of apoptosis|positive regulation of peptidyl-serine phosphorylation		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity			biliary_tract(1)|endometrium(4)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	29					Adenosine triphosphate(DB00171)	AGCGGAAGTCCTTGGCCGATG	0.627000													6	7					0	0	0.00307968	0	0
MPZ	4359	broad.mit.edu	37	1	161276688	161276688	+	Silent	SNP	T	T	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:161276688T>C	ENST00000533357.1	-	3	324	c.258A>G	c.(256-258)caA>caG	p.Q86Q	MPZ_ENST00000336559.4_Silent_p.Q86Q|MPZ_ENST00000526189.1_5'UTR|MPZ_ENST00000491222.2_5'UTR|MPZ_ENST00000360451.6_Silent_p.Q96Q	NM_000530.6	NP_000521.2	P25189	MYP0_HUMAN	myelin protein zero	86	Ig-like V-type.				synaptic transmission	integral to plasma membrane	structural molecule activity			central_nervous_system(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	10	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)	Breast(1374;0.181)	BRCA - Breast invasive adenocarcinoma(70;0.00376)			CAATGTAGGGTTGTCCCTTGG	0.498000													8	38					0	0	0.000274275	0	0
FAT3	120114	broad.mit.edu	37	11	92543147	92543147	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:92543147C>T	ENST00000298047.6	+	12	9403	c.9386C>T	c.(9385-9387)cCt>cTt	p.P3129L	FAT3_ENST00000525166.1_Missense_Mutation_p.P2979L|FAT3_ENST00000409404.2_Missense_Mutation_p.P3129L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3129	Cadherin 28.				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)				GATAACCCCCCTGTGTTTTCT	0.542000										TCGA Ovarian(4;0.039)			23	136					0	0	0.000720815	0	0
C1RL	51279	broad.mit.edu	37	12	7249305	7249305	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:7249305C>T	ENST00000266542.4	-	6	1238	c.1146G>A	c.(1144-1146)atG>atA	p.M382I	C1RL_ENST00000545280.1_Intron|C1RL_ENST00000544702.1_3'UTR|C1RL_ENST00000504702.2_Intron	NM_016546.2	NP_057630.2	Q9NZP8	C1RL_HUMAN	complement component 1, r subcomponent-like	382	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis		serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TTAGCCAGCCCATCTCCATGC	0.602000													16	39					0	0	0.00400662	0	0
SMARCC2	6601	broad.mit.edu	37	12	56558217	56558217	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:56558217G>A	ENST00000550164.1	-	28	3545	c.3531C>T	c.(3529-3531)aaC>aaT	p.N1177N	RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000394023.3_Intron|SMARCC2_ENST00000347471.4_Intron|SMARCC2_ENST00000267064.4_Silent_p.N1146N			Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	1146	Pro-rich.				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			TCGCCGGCAGGTTAGGATGTA	0.647000													11	34					0	0	0.00185496	0	0
MAN1C1	57134	broad.mit.edu	37	1	26107523	26107523	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:26107523G>A	ENST00000374332.4	+	10	1900	c.1570G>A	c.(1570-1572)Gag>Aag	p.E524K	MAN1C1_ENST00000263979.3_Missense_Mutation_p.E344K|MAN1C1_ENST00000374329.1_Missense_Mutation_p.E295K	NM_020379.2	NP_065112.1	Q9NR34	MA1C1_HUMAN	mannosidase, alpha, class 1C, member 1	524					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		CCTCCGGCCAGAGGTGGTGGA	0.622000													10	38					0	0	0.00136819	0	0
LOC440040	440040	broad.mit.edu	37	11	49831775	49831775	+	RNA	SNP	T	T	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:49831775T>A	ENST00000527477.1	+	0	2000																											GGCCTATCTTTTGCTGTATTC	0.433000													17	126					0	0	0.00229938	0	0
LIMCH1	22998	broad.mit.edu	37	4	41648236	41648236	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:41648236G>A	ENST00000313860.7	+	11	1249	c.1195G>A	c.(1195-1197)Gaa>Aaa	p.E399K	LIMCH1_ENST00000509277.1_Missense_Mutation_p.E233K|LIMCH1_ENST00000512946.1_Missense_Mutation_p.E399K|LIMCH1_ENST00000512632.1_Missense_Mutation_p.E399K|LIMCH1_ENST00000503057.1_Missense_Mutation_p.E784K|LIMCH1_ENST00000514096.1_Missense_Mutation_p.E240K|LIMCH1_ENST00000512820.1_Missense_Mutation_p.E387K|LIMCH1_ENST00000508501.1_Missense_Mutation_p.E399K|LIMCH1_ENST00000396595.3_Missense_Mutation_p.E245K|LIMCH1_ENST00000513024.1_Missense_Mutation_p.E228K|LIMCH1_ENST00000381753.4_Missense_Mutation_p.E233K|LIMCH1_ENST00000511496.1_Missense_Mutation_p.E240K	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	399					actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						ACTGGCTGGAGAAGATGGGAC	0.388000													10	44					0	0	0.000978159	0	0
FER1L6	654463	broad.mit.edu	37	8	124968292	124968292	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:124968292C>T	ENST00000522917.1	+	2	260	c.54C>T	c.(52-54)atC>atT	p.I18I	FER1L6_ENST00000399018.1_Silent_p.I18I	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	18						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			AGGGGTTAATCCTAGCCAACA	0.483000													5	25					0	0	0.000274275	0	0
ZFYVE26	23503	broad.mit.edu	37	14	68250125	68250125	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:68250125G>A	ENST00000347230.4	-	21	3882	c.3744C>T	c.(3742-3744)tcC>tcT	p.S1248S	ZFYVE26_ENST00000555452.1_Silent_p.S1248S	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1248					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		GAGTCAGGAGGGAGGAGGTCT	0.592000													9	27					0	0	0.000442599	0	0
C7	730	broad.mit.edu	37	5	40981494	40981494	+	Splice_Site	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:40981494C>T	ENST00000313164.9	+	18	2710	c.2350_splice	c.e18-1	p.A784_splice		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	784	Complement control factor I module 2.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				ACTTTTCCAGCTGAGAGCAGC	0.478000													7	4					0	0	0.000274275	0	0
OR5A2	219981	broad.mit.edu	37	11	59189564	59189564	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:59189564G>A	ENST00000302040.4	-	1	885	c.863C>T	c.(862-864)cCc>cTc	p.P288L		NM_001001954.1	NP_001001954.1	Q8NGI9	OR5A2_HUMAN	olfactory receptor, family 5, subfamily A, member 2	288					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						GTAGATGATGGGATTCACCAC	0.463000													4	11					0	0	0.00024832	0	0
GJB5	2709	broad.mit.edu	37	1	35223303	35223303	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:35223303G>A	ENST00000338513.1	+	2	545	c.372G>A	c.(370-372)cgG>cgA	p.R124R		NM_005268.3	NP_005259.1	O95377	CXB5_HUMAN	gap junction protein, beta 5, 31.1kDa	124					cell communication|epidermis development	connexon complex|integral to membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)	10		Myeloproliferative disorder(586;0.0393)				GCAAGAAGCGGGGTGGGCTCT	0.572000													11	45					0	0	0.00400662	0	0
TARBP1	6894	broad.mit.edu	37	1	234569302	234569302	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:234569302G>A	ENST00000040877.1	-	14	2247	c.2248C>T	c.(2248-2250)Cgt>Tgt	p.R750C		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	750					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity	p.R750S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			AAATGGCAACGATCCAGATCT	0.393000													6	55					0	0	0.00198382	0	0
LAMP5	24141	broad.mit.edu	37	20	9510290	9510290	+	Splice_Site	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:9510290G>A	ENST00000246070.2	+	6	1158	c.664_splice	c.e6-1	p.E222_splice	LAMP5_ENST00000427562.2_Splice_Site_p.E178_splice	NM_012261.3	NP_036393.1	Q9UJQ1	CT103_HUMAN	lysosomal-associated membrane protein family, member 5	222						integral to membrane											CCATTGCAGAGCATAAATGCC	0.448000													4	17					0	0	0.00116845	0	0
NAALAD2	10003	broad.mit.edu	37	11	89891372	89891372	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:89891372C>T	ENST00000534061.1	+	7	1086	c.856C>T	c.(856-858)Ccc>Tcc	p.P286S	NAALAD2_ENST00000525171.1_Intron|NAALAD2_ENST00000375944.3_Intron|NAALAD2_ENST00000321955.4_Missense_Mutation_p.P286S	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	286	NAALADase.				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				ACCTGTACATCCCATTGGATA	0.299000													26	120					0	0	0.00178596	0	0
GRID2	2895	broad.mit.edu	37	4	94031943	94031943	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:94031943G>A	ENST00000282020.4	+	4	832	c.574G>A	c.(574-576)Gga>Aga	p.G192R	GRID2_ENST00000505687.1_3'UTR|GRID2_ENST00000510992.1_Missense_Mutation_p.G97R	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	192					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	p.G192R(1)		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)	CTCTCAGCAGGGAATGGATGT	0.398000													10	40					0	0	0.000442599	0	0
DNAH11	8701	broad.mit.edu	37	7	21640507	21640507	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:21640507A>G	ENST00000328843.6	+	16	3245	c.3214A>G	c.(3214-3216)Att>Gtt	p.I1072V	DNAH11_ENST00000409508.3_Missense_Mutation_p.I1072V			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1072	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						AAATGAAGAAATTCCCGAACA	0.408000									Kartagener syndrome				16	76					0	0	0.000566183	0	0
LPXN	9404	broad.mit.edu	37	11	58322362	58322362	+	Silent	SNP	A	A	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:58322362A>C	ENST00000528954.1	-	4	404	c.285T>G	c.(283-285)gcT>gcG	p.A95A	LPXN_ENST00000528489.1_Silent_p.A70A|LPXN_ENST00000395074.2_Silent_p.A90A	NM_001143995.1	NP_001137467.1	O60711	LPXN_HUMAN	leupaxin	90					cell adhesion|protein complex assembly|signal transduction	cytoplasm	zinc ion binding			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				CCAACTGAGCAGCTGCTGACG	0.478000													11	67					0	0	0.000978159	0	0
CLDN2	9075	broad.mit.edu	37	X	106171926	106171926	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:106171926G>T	ENST00000541806.1	+	2	987	c.468G>T	c.(466-468)atG>atT	p.M156I	CLDN2_ENST00000336803.1_Missense_Mutation_p.M156I|CLDN2_ENST00000540876.1_Missense_Mutation_p.M156I	NM_001171092.1	NP_001164563.1	P57739	CLD2_HUMAN	claudin 2	156					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity	p.M156I(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						CTGACAGCATGAAATTTGAGA	0.478000													15	56					0.000422831	0.00122446	0.00400662	1	0
ZCCHC2	54877	broad.mit.edu	37	18	60237405	60237405	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:60237405C>T	ENST00000269499.5	+	12	2334	c.1916C>T	c.(1915-1917)cCa>cTa	p.P639L	ZCCHC2_ENST00000586834.1_Missense_Mutation_p.P318L	NM_017742.4	NP_060212.4	Q9C0B9	ZCHC2_HUMAN	zinc finger, CCHC domain containing 2	639					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						TACAGTTCTCCATCTAGTCCC	0.398000													23	12					0	0	0.00395357	0	0
CYP2C9	1559	broad.mit.edu	37	10	96748604	96748604	+	Splice_Site	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:96748604G>A	ENST00000260682.6	+	9	1304	c.1291_splice	c.e9-1	p.G431_splice		NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	431					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)	CTATTTTCAGGAAAACGGATT	0.438000													8	29					0	0	0.000978159	0	0
SEC14L4	284904	broad.mit.edu	37	22	30891765	30891765	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr22:30891765G>A	ENST00000540456.1	-	4	286	c.93C>T	c.(91-93)ccC>ccT	p.P31P	SEC14L4_ENST00000255858.7_Intron|SEC14L4_ENST00000392772.2_Intron|SEC14L4_ENST00000381982.3_Intron			Q9UDX3	S14L4_HUMAN	SEC14-like 4 (S. cerevisiae)	0						integral to membrane|intracellular	lipid binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	AGGTGGGCTGGGGGGACTTGG	0.592000													7	8					0	0	0.00198382	0	0
LGR5	8549	broad.mit.edu	37	12	71977917	71977917	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:71977917C>T	ENST00000266674.5	+	18	2438	c.2127C>T	c.(2125-2127)tcC>tcT	p.S709S	LGR5_ENST00000540815.2_Silent_p.S685S|LGR5_ENST00000536515.1_Silent_p.S637S			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	709						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						ATGGCGCCTCCCCTCTCTGCC	0.552000													28	156					0	0	0.000878237	0	0
OR2L8	391190	broad.mit.edu	37	1	248112406	248112406	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:248112406G>A	ENST00000357191.3	+	1	247	c.247G>A	c.(247-249)Gat>Aat	p.D83N	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	83					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			GATGGCATCTGATTTTCTGCA	0.453000													27	102					0	0	0.00106085	0	0
TNXB	7148	broad.mit.edu	37	6	32037356	32037356	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:32037356C>T	ENST00000375244.3	-	15	5762	c.5561G>A	c.(5560-5562)gGc>gAc	p.G1854D	TNXB_ENST00000375247.2_Missense_Mutation_p.G1854D			P22105	TENX_HUMAN	tenascin XB	1936					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CGAGATGGGGCCCACACGCTT	0.662000													40	109					0	0	0.0025221	0	0
ERBB3	2065	broad.mit.edu	37	12	56488219	56488219	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:56488219C>T	ENST00000267101.3	+	15	2178	c.1738C>T	c.(1738-1740)Cga>Tga	p.R580*	ERBB3_ENST00000415288.2_Nonsense_Mutation_p.R521*|ERBB3_ENST00000450146.2_Intron	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	580					cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			TGCCCATTTTCGAGATGGGCC	0.527000													21	49					0	0	0.00229938	0	0
TTN	7273	broad.mit.edu	37	2	179443704	179443704	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:179443704C>T	ENST00000589042.1	-	320	68277	c.68053G>A	c.(68053-68055)Gat>Aat	p.D22685N	TTN_ENST00000342175.6_Missense_Mutation_p.D13812N|TTN_ENST00000460472.2_Missense_Mutation_p.D13620N|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D20117N|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D21044N|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D13745N|TTN-AS1_ENST00000592750.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	21044	Fibronectin type-III 65.						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)			TTCACAGAATCCCTCTTCTCT	0.463000													7	15					0	0	0.000274275	0	0
NLRP4	147945	broad.mit.edu	37	19	56369627	56369627	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:56369627C>T	ENST00000301295.6	+	3	1290	c.868C>T	c.(868-870)Cag>Tag	p.Q290*	NLRP4_ENST00000587891.1_Nonsense_Mutation_p.Q215*|NLRP4_ENST00000346986.5_Nonsense_Mutation_p.Q290*	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	290	NACHT.						ATP binding	p.Q290*(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GCTCCGGGATCAGGTGACGAT	0.537000													5	32					0	0	0.00198382	0	0
SPEF1	25876	broad.mit.edu	37	20	3759628	3759628	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:3759628G>T	ENST00000379756.3	-	4	548	c.388C>A	c.(388-390)Ccc>Acc	p.P130T	SPEF1_ENST00000463490.1_5'UTR	NM_015417.4	NP_056232.2	Q9Y4P9	SPEF1_HUMAN	sperm flagellar 1	130						cilium axoneme|cytoplasm|cytoskeleton				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	8						CCATCCTGGGGAGCCAGCTCC	0.612000													6	10					3.59834e-05	0.000104376	0.00116845	1	0
PEX7	5191	broad.mit.edu	37	6	137191066	137191066	+	Silent	SNP	A	A	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:137191066A>G	ENST00000541292.1	+	7	758	c.672A>G	c.(670-672)agA>agG	p.R224R	PEX7_ENST00000318471.4_Silent_p.R224R			O00628	PEX7_HUMAN	peroxisomal biogenesis factor 7	224					ether lipid biosynthetic process|protein import into peroxisome matrix	peroxisome	peroxisome matrix targeting signal-2 binding			lung(7)|prostate(1)	8	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000257)|OV - Ovarian serous cystadenocarcinoma(155;0.00492)		GTAGTTTGAGAGGCTGGGACT	0.388000													48	125					0	0	0.00361006	0	0
PXDN	7837	broad.mit.edu	37	2	1651988	1651988	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:1651988C>T	ENST00000252804.4	-	17	3614	c.3564G>A	c.(3562-3564)ctG>ctA	p.L1188L		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1188					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		TCTCATTTTTCAGGTCCTCGA	0.562000													22	89					0	0	0.00395357	0	0
KIF6	221458	broad.mit.edu	37	6	39607458	39607458	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:39607458C>T	ENST00000287152.7	-	4	421	c.327G>A	c.(325-327)ggG>ggA	p.G109G	KIF6_ENST00000373215.3_Silent_p.G109G|KIF6_ENST00000373216.3_Silent_p.G109G|KIF6_ENST00000538893.1_Silent_p.G109G	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	109	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						GCTCTGCACCCCCTGTGATAG	0.418000													10	37					0	0	0.000978159	0	0
IL18	3606	broad.mit.edu	37	11	112014513	112014513	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:112014513C>T	ENST00000280357.7	-	6	607	c.388G>A	c.(388-390)Gat>Aat	p.D130N	IL18_ENST00000528832.1_Missense_Mutation_p.D130N|SDHD_ENST00000532699.1_Intron|IL18_ENST00000533858.1_5'UTR|IL18_ENST00000524595.1_Missense_Mutation_p.D126N	NM_001562.3	NP_001553.1	Q14116	IL18_HUMAN	interleukin 18 (interferon-gamma-inducing factor)	130					angiogenesis|cell-cell signaling|chemokine biosynthetic process|granulocyte macrophage colony-stimulating factor biosynthetic process|interferon-gamma biosynthetic process|interleukin-13 biosynthetic process|interleukin-2 biosynthetic process|positive regulation of activated T cell proliferation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma production|positive regulation of interleukin-17 production|positive regulation of natural killer cell proliferation|positive regulation of NK T cell proliferation|regulation of cell adhesion|sleep|T-helper 1 type immune response|type 2 immune response	cytosol|extracellular space	cytokine activity|signal transducer activity						all_cancers(61;5.7e-14)|all_epithelial(67;3.4e-08)|Melanoma(852;8.81e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|Epithelial(105;8.15e-07)|all cancers(92;1.43e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.055)		CTTTTTGTATCCTTGATGTTA	0.313000													9	34					0	0	0.000673444	0	0
TTN	7273	broad.mit.edu	37	2	179419750	179419750	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:179419750T>A	ENST00000589042.1	-	331	88660	c.88436A>T	c.(88435-88437)aAa>aTa	p.K29479I	TTN_ENST00000342175.6_Missense_Mutation_p.K20606I|TTN_ENST00000460472.2_Missense_Mutation_p.K20414I|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K26911I|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.K27838I|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K20539I|TTN-AS1_ENST00000592750.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	27838	Fibronectin type-III 115.		L -> P.				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)			TTGTAATTCTTTATCATCTTT	0.418000													8	15					0	0	0.00307968	0	0
PIK3AP1	118788	broad.mit.edu	37	10	98362082	98362082	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:98362082G>A	ENST00000339364.5	-	16	2434	c.2315C>T	c.(2314-2316)tCc>tTc	p.S772F	PIK3AP1_ENST00000371110.2_Missense_Mutation_p.S594F|PIK3AP1_ENST00000371109.3_Missense_Mutation_p.S371F	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	772	Pro-rich.					cytoplasm|plasma membrane				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		TCTCTCGAGGGACATGGTGGG	0.507000													14	18					0	0	0.00400662	0	0
KIF13A	63971	broad.mit.edu	37	6	17805797	17805797	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:17805797T>A	ENST00000378814.5	-	19	2212	c.2213A>T	c.(2212-2214)aAg>aTg	p.K738M	KIF13A_ENST00000378826.2_Missense_Mutation_p.K738M|KIF13A_ENST00000378843.2_Missense_Mutation_p.K738M|KIF13A_ENST00000259711.6_Missense_Mutation_p.K738M|KIF13A_ENST00000378816.5_Missense_Mutation_p.K738M	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	738					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TTGGGTGCTCTTTCCTTTCCT	0.403000													13	40					0	0	0.00136819	0	0
COL28A1	340267	broad.mit.edu	37	7	7557443	7557443	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:7557443C>T	ENST00000399429.3	-	7	979	c.839G>A	c.(838-840)gGa>gAa	p.G280E		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	280					cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		ACCTCTTTCTCCAGCTTCTCC	0.423000													18	101					0	0	0.00278032	0	0
FAM83C	128876	broad.mit.edu	37	20	33876305	33876305	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:33876305G>C	ENST00000374408.3	-	3	861	c.765C>G	c.(763-765)ttC>ttG	p.F255L		NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	255										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			CAATGAGGACGAACTTCTCCA	0.627000													10	47					0	0	0.00244969	0	0
OR7E24	26648	broad.mit.edu	37	19	9362186	9362186	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:9362186C>T	ENST00000456448.1	+	1	581	c.467C>T	c.(466-468)cCa>cTa	p.P156L		NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E, member 24	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						ATCATGAACCCACGCCTCTGT	0.453000													5	34					0	0	0.00198382	0	0
PCED1B	91523	broad.mit.edu	37	12	47628852	47628852	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:47628852C>T	ENST00000546455.1	+	4	737	c.6C>T	c.(4-6)atC>atT	p.I2I	PCED1B_ENST00000432328.1_Silent_p.I2I					PC-esterase domain containing 1B																		GCGTCATGATCCTTCTGCGGG	0.592000													5	23					0	0	0.00198382	0	0
RWDD3	25950	broad.mit.edu	37	1	95709865	95709865	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:95709865C>T	ENST00000429514.2	+	3	345	c.139C>T	c.(139-141)Cct>Tct	p.P47S	RP11-57H12.5_ENST00000444665.1_RNA|RWDD3_ENST00000370202.4_Missense_Mutation_p.P62S|RWDD3_ENST00000263893.6_Missense_Mutation_p.P62S|RP11-57H12.6_ENST00000604534.1_3'UTR|RWDD3_ENST00000495272.1_3'UTR			Q9Y3V2	RWDD3_HUMAN	RWD domain containing 3	62	RWD.		V -> A (in dbSNP:rs259358).			cytoplasm|nucleus	protein binding			kidney(1)|large_intestine(2)|lung(6)|ovary(1)	10		all_epithelial(167;5.99e-05)|all_lung(203;0.00168)|Lung NSC(277;0.00769)		all cancers(265;0.112)|Epithelial(280;0.229)		AGTCAATTATCCTTCATGTCT	0.433000													14	49					0	0	0.00244969	0	0
TNXB	7148	broad.mit.edu	37	6	32036433	32036433	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:32036433G>A	ENST00000375244.3	-	17	6155	c.5954C>T	c.(5953-5955)cCc>cTc	p.P1985L	TNXB_ENST00000375247.2_Missense_Mutation_p.P1985L			P22105	TENX_HUMAN	tenascin XB	2067	Fibronectin type-III 12.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						AGGCTTGATGGGGGGCTCGGG	0.632000													72	226					0	0	0.00361006	0	0
CHD6	84181	broad.mit.edu	37	20	40033758	40033758	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:40033758G>A	ENST00000373233.3	-	37	7800	c.7623C>T	c.(7621-7623)ccC>ccT	p.P2541P	CHD6_ENST00000480022.1_5'UTR	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2541					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TGGTTGCCATGGGTGGACTGA	0.557000													23	45					0	0	0.00395357	0	0
ZNF701	55762	broad.mit.edu	37	19	53085577	53085577	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:53085577G>A	ENST00000540331.1	+	5	688	c.463G>A	c.(463-465)Gaa>Aaa	p.E155K	ZNF701_ENST00000391785.3_Missense_Mutation_p.E89K|CTD-3099C6.7_ENST00000599222.1_RNA|ZNF701_ENST00000301093.2_Missense_Mutation_p.E155K	NM_001172655.1	NP_001166126.1	Q9NV72	ZN701_HUMAN	zinc finger protein 701	89					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		TTGCTTCCAGGAAATTGAGAA	0.393000													12	77					0	0	0.00136819	0	0
GPR87	53836	broad.mit.edu	37	3	151012560	151012560	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:151012560C>T	ENST00000260843.4	-	3	938	c.474G>A	c.(472-474)acG>acA	p.T158T	MED12L_ENST00000491549.1_Intron|MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron	NM_023915.3	NP_076404.3	Q9BY21	GPR87_HUMAN	G protein-coupled receptor 87	158						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)			ATAAAACCTTCGTGAAGGTTA	0.438000													12	53					0	0	0.00136819	0	0
KMT2C	58508	broad.mit.edu	37	7	151845611	151845611	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:151845611C>T	ENST00000355193.2	-	53	13790	c.13572G>A	c.(13570-13572)aaG>aaA	p.K4524K	KMT2C_ENST00000262189.6_Silent_p.K4467K					lysine (K)-specific methyltransferase 2C																		TGGCACCCGTCTTGTGACAGA	0.453000													30	195					0	0	0.00375469	0	0
MMP3	4314	broad.mit.edu	37	11	102711167	102711167	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:102711167G>A	ENST00000299855.5	-	5	1039	c.783C>T	c.(781-783)tcC>tcT	p.S261S		NM_002422.3	NP_002413.1	P08254	MMP3_HUMAN	matrix metallopeptidase 3 (stromelysin 1, progelatinase)	261					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)|Simvastatin(DB00641)	CACCATAGAGGGACTGAATGC	0.418000													12	31					0	0	0.00400662	0	0
CX3CR1	1524	broad.mit.edu	37	3	39307743	39307743	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:39307743G>A	ENST00000541347.1	-	2	497	c.258C>T	c.(256-258)ttC>ttT	p.F86F	CX3CR1_ENST00000542107.1_Silent_p.F86F|CX3CR1_ENST00000399220.2_Silent_p.F86F|CX3CR1_ENST00000358309.3_Silent_p.F118F	NM_001171171.1	NP_001164642.1	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	86					cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		AGTGAGTCCAGAAGGGCAAAG	0.463000													8	35					0	0	0.000274275	0	0
TENM1	10178	broad.mit.edu	37	X	123637533	123637533	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:123637533C>T	ENST00000422452.2	-	19	3385	c.3322G>A	c.(3322-3324)Gaa>Aaa	p.E1108K	TENM1_ENST00000371130.3_Missense_Mutation_p.E1108K	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		GGGCACGTTTCATATTCATAT	0.373000													8	49					0	0	0.000274275	0	0
CD96	10225	broad.mit.edu	37	3	111264196	111264196	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:111264196T>A	ENST00000352690.4	+	2	605	c.365T>A	c.(364-366)cTg>cAg	p.L122Q	CD96_ENST00000438817.2_Missense_Mutation_p.L122Q|CD96_ENST00000283285.5_Missense_Mutation_p.L122Q	NM_005816.4	NP_005807.1	P40200	TACT_HUMAN	CD96 molecule	122	Ig-like V-type 1.				cell adhesion|immune response|regulation of immune response	integral to plasma membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						ATGCTTGTTCTGTATCCAGAG	0.433000									Opitz Trigonocephaly syndrome				5	20					0	0	0.00116845	0	0
SLCO1A2	6579	broad.mit.edu	37	12	21450370	21450370	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:21450370C>T	ENST00000307378.6	-	10	1763	c.1043G>A	c.(1042-1044)gGa>gAa	p.G348E	SLCO1A2_ENST00000458504.1_Missense_Mutation_p.G216E|SLCO1A2_ENST00000390670.3_Missense_Mutation_p.G346E|SLCO1A2_ENST00000537524.1_Missense_Mutation_p.G216E|SLCO1A2_ENST00000452078.1_Missense_Mutation_p.G348E	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	348					bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						AGATGATATTCCATATTGCTG	0.388000													4	30					0	0	0.00198382	0	0
P2RY10	27334	broad.mit.edu	37	X	78216316	78216316	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:78216316C>T	ENST00000171757.2	+	4	579	c.299C>T	c.(298-300)cCt>cTt	p.P100L	P2RY10_ENST00000475374.1_3'UTR|P2RY10_ENST00000544091.1_Missense_Mutation_p.P100L	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	100						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						CACCACTGGCCTTTCCAGAGA	0.448000													9	37					0	0	0.000978159	0	0
CA5B	11238	broad.mit.edu	37	X	15794942	15794942	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:15794942T>A	ENST00000318636.3	+	7	860	c.724T>A	c.(724-726)Tct>Act	p.S242T	CA5B_ENST00000454127.2_Missense_Mutation_p.S242T	NM_007220.3	NP_009151.1	Q9Y2D0	CAH5B_HUMAN	carbonic anhydrase VB, mitochondrial	242					one-carbon metabolic process	mitochondrion	carbonate dehydratase activity|zinc ion binding			endometrium(1)|kidney(2)|lung(3)|prostate(1)|stomach(2)	9	Hepatocellular(33;0.183)					CCTCTCCGAGTCTGTCACCTG	0.483000													13	58					0	0	0.00244969	0	0
ZP1	22917	broad.mit.edu	37	11	60642654	60642654	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:60642654C>T	ENST00000278853.5	+	11	1707	c.1707C>T	c.(1705-1707)atC>atT	p.I569I		NM_207341.2	NP_997224.2	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 (sperm receptor)	569					single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix				breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						CCCAGGACATCGTGAGCTCTC	0.627000													10	33					0	0	0.00136819	0	0
HK2	3099	broad.mit.edu	37	2	75108954	75108954	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:75108954C>T	ENST00000290573.2	+	11	2287	c.1687C>T	c.(1687-1689)Ccg>Tcg	p.P563S	HK2_ENST00000409174.1_Missense_Mutation_p.P535S	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	563	Catalytic.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						CTACGCCATCCCGCAGGAGGT	0.632000													4	18					0	0	0.000602214	0	0
FRMPD4	9758	broad.mit.edu	37	X	12736796	12736796	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:12736796G>A	ENST00000380682.1	+	16	4357	c.3851G>A	c.(3850-3852)gGg>gAg	p.G1284E		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	1284					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						CAGACAGAAGGGATGTGTCCA	0.547000													14	62					0	0	0.00316338	0	0
CSMD3	114788	broad.mit.edu	37	8	113267574	113267574	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:113267574G>A	ENST00000297405.5	-	62	10189	c.9945C>T	c.(9943-9945)ttC>ttT	p.F3315F	CSMD3_ENST00000343508.3_Silent_p.F3275F|CSMD3_ENST00000455883.2_Silent_p.F3146F|CSMD3_ENST00000352409.3_Silent_p.F3245F	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3315	Sushi 26.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AATTGCAGCTGAATGAAACCT	0.408000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			24	25					0	0	0.00278032	0	0
TET1	80312	broad.mit.edu	37	10	70332628	70332628	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:70332628C>T	ENST00000373644.4	+	2	742	c.533C>T	c.(532-534)cCc>cTc	p.P178L		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	178					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						GTACAAAATCCCTCTTTACTT	0.448000													11	42					0	0	0.00185496	0	0
QRICH2	84074	broad.mit.edu	37	17	74276755	74276755	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:74276755G>A	ENST00000262765.5	-	10	4122	c.3943C>T	c.(3943-3945)Ctg>Ttg	p.L1315L		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	1315							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						TCCATCTCCAGGTGCTCCCTG	0.587000													9	48					0	0	0.000442599	0	0
REG1B	5968	broad.mit.edu	37	2	79314026	79314026	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:79314026G>A	ENST00000305089.3	-	3	175	c.95C>T	c.(94-96)cCc>cTc	p.P32L		NM_006507.3	NP_006498.1	P48304	REG1B_HUMAN	regenerating islet-derived 1 beta	32					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						GCTGATTCGGGGATTAGGCAG	0.493000													9	37					0	0	0.00244969	0	0
OR10R2	343406	broad.mit.edu	37	1	158450091	158450091	+	Missense_Mutation	SNP	C	C	T	rs138574952		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:158450091C>T	ENST00000368152.1	+	1	424	c.424C>T	c.(424-426)Cgc>Tgc	p.R142C	RP11-144L1.4_ENST00000426251.1_RNA|RP11-144L1.4_ENST00000419738.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	142					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R142C(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					GGGTTATGATCGCTATGCTGC	0.498000													17	88					0	0	0.00121646	0	0
ACTL8	81569	broad.mit.edu	37	1	18149712	18149712	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:18149712G>A	ENST00000375406.1	+	2	425	c.209G>A	c.(208-210)gGc>gAc	p.G70D		NM_030812.2	NP_110439.2	Q9H568	ACTL8_HUMAN	actin-like 8	70						cytoplasm|cytoskeleton				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		ATCGAGCGGGGCCGCATCCTC	0.597000													11	42					0	0	0.00136819	0	0
SPEN	23013	broad.mit.edu	37	1	16262634	16262634	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:16262634G>A	ENST00000375759.3	+	11	10103	c.9899G>A	c.(9898-9900)gGg>gAg	p.G3300E		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	3300	Pro-rich.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CACTCCAGCGGGGAGCTGTTT	0.627000													10	25					0	0	0.000673444	0	0
IL7R	3575	broad.mit.edu	37	5	35873724	35873724	+	Missense_Mutation	SNP	G	G	A	rs148165103		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:35873724G>A	ENST00000303115.3	+	5	809	c.680G>A	c.(679-681)aGa>aAa	p.R227K	IL7R_ENST00000506850.1_Missense_Mutation_p.R227K|IL7R_ENST00000343305.4_Missense_Mutation_p.R227K	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	227					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			TATTACTTCAGAACTCCAGAG	0.428000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency						21	36					0	0	0.00278032	0	0
MYT1L	23040	broad.mit.edu	37	2	1926476	1926476	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:1926476C>T	ENST00000399161.2	-	10	1812	c.1065G>A	c.(1063-1065)atG>atA	p.M355I	MYT1L_ENST00000428368.2_Missense_Mutation_p.M355I	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	355					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GACGGATGTTCATGTTCTGCT	0.572000													7	15					0	0	0.000274275	0	0
ZNF648	127665	broad.mit.edu	37	1	182025563	182025563	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:182025563C>T	ENST00000339948.3	-	2	1790	c.1583G>A	c.(1582-1584)gGa>gAa	p.G528E		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	528					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						GGGCCTCTCTCCGTTGTGCAT	0.617000													6	19					0	0	0.00116845	0	0
GUCY1A2	2977	broad.mit.edu	37	11	106579310	106579310	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:106579310T>A	ENST00000526355.1	-	7	2387	c.1919A>T	c.(1918-1920)aAt>aTt	p.N640I	GUCY1A2_ENST00000347596.2_Missense_Mutation_p.N661I|GUCY1A2_ENST00000282249.2_Missense_Mutation_p.N671I	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	640	Guanylate cyclase.				intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		CAGTGTGACATTATTTCCAAA	0.498000													9	28					0	0	0.000673444	0	0
AKR1D1	6718	broad.mit.edu	37	7	137801365	137801365	+	Splice_Site	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:137801365G>A	ENST00000242375.3	+	9	980		c.e9-1		AKR1D1_ENST00000432161.1_Splice_Site|AKR1D1_ENST00000411726.2_Splice_Site|AKR1D1_ENST00000468877.2_Splice_Site	NM_005989.3	NP_005980.1	P51857	AK1D1_HUMAN	aldo-keto reductase family 1, member D1						androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|C21-steroid hormone metabolic process|cholesterol catabolic process|digestion	cytosol	aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	23						TGTTTTGGCAGGTGGCGCGAT	0.448000													19	140					0	0	0.00395357	0	0
ITIH5	80760	broad.mit.edu	37	10	7679266	7679266	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:7679266C>T	ENST00000256861.6	-	5	655	c.577G>A	c.(577-579)Gag>Aag	p.E193K	ITIH5_ENST00000397146.2_Missense_Mutation_p.E193K|ITIH5_ENST00000397145.2_Missense_Mutation_p.E193K|ITIH5_ENST00000446830.2_5'UTR|ITIH5_ENST00000434980.1_5'UTR	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	193					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						CCCGCGCTCTCCAGGATATTC	0.662000													11	25					0	0	0.000978159	0	0
SCN8A	6334	broad.mit.edu	37	12	52200862	52200862	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:52200862C>T	ENST00000354534.5	+	27	5770	c.5592C>T	c.(5590-5592)atC>atT	p.I1864I	SCN8A_ENST00000545061.1_Silent_p.I1823I	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1864					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	AGTTGGACATCCTGCGGCAGC	0.557000													15	43					0	0	0.00074312	0	0
SELL	6402	broad.mit.edu	37	1	169672445	169672445	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:169672445G>A	ENST00000236147.4	-	6	1102	c.942C>T	c.(940-942)acC>acT	p.T314T	SELL_ENST00000463108.1_5'UTR|C1orf112_ENST00000498289.1_Intron	NM_000655.4	NP_000646.2	P14151	LYAM1_HUMAN	selectin L	301	Sushi 2.				blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	integral to plasma membrane	glycosphingolipid binding|heparin binding|protease binding|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	15	all_hematologic(923;0.208)					ATTCACAAATGGTTTTCTTCT	0.428000													9	23					0	0	0.000673444	0	0
ITPR1	3708	broad.mit.edu	37	3	4735216	4735216	+	Silent	SNP	A	A	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:4735216A>C	ENST00000354582.6	+	33	4422	c.4072A>C	c.(4072-4074)Aga>Cga	p.R1358R	ITPR1_ENST00000357086.4_Silent_p.R1349R|ITPR1_ENST00000456211.2_Silent_p.R1334R|ITPR1_ENST00000443694.2_Silent_p.R1343R|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000423119.2_Silent_p.R1349R|ITPR1_ENST00000302640.8_Silent_p.R1343R			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1358					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		CTACAACGACAGAGCCTCTTT	0.517000													16	97					0	0	0.000958276	0	0
ATP1A2	477	broad.mit.edu	37	1	160106440	160106440	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:160106440G>A	ENST00000361216.3	+	19	2733	c.2644G>A	c.(2644-2646)Gga>Aga	p.G882R	ATP1A2_ENST00000472488.1_3'UTR|ATP1A2_ENST00000392233.3_Missense_Mutation_p.G882R	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	882					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			ACGGCTACTGGGAATCCGCCT	0.557000													11	36					0	0	0.000978159	0	0
IGHV4OR15-8	28317	broad.mit.edu	37	15	22473063	22473063	+	RNA	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:22473063C>T	ENST00000557788.2	-	0	207																											TGATAGATTTCCCCAATCCAC	0.567000													14	52					0	0	0.00244969	0	0
OBSCN	84033	broad.mit.edu	37	1	228475408	228475408	+	Silent	SNP	G	G	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:228475408G>T	ENST00000570156.2	+	41	10919	c.10845G>T	c.(10843-10845)cgG>cgT	p.R3615R	OBSCN_ENST00000284548.11_Silent_p.R3186R|OBSCN_ENST00000359599.6_Silent_p.R2033R|OBSCN_ENST00000366707.4_Silent_p.R305R|OBSCN_ENST00000366709.4_Silent_p.R305R|OBSCN_ENST00000422127.1_Silent_p.R3186R	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2648	Ig-like 36.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGCCAGTGCGGTTCCAGGAGG	0.647000													10	22					4.36969e-10	1.27415e-09	0.00185496	1	0
PCNXL2	80003	broad.mit.edu	37	1	233270791	233270791	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:233270791C>T	ENST00000258229.8	-	21	4039	c.3805G>A	c.(3805-3807)Gat>Aat	p.D1269N	PCNXL2_ENST00000488780.2_Missense_Mutation_p.D402N|PCNXL2_ENST00000520463.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1269						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				ATGAAGAAATCCAGTAAGAAG	0.343000													23	138					0	0	0.00106085	0	0
CILP2	148113	broad.mit.edu	37	19	19655943	19655943	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:19655943C>T	ENST00000586018.1	+	8	2709	c.2607C>T	c.(2605-2607)ctC>ctT	p.L869L	CILP2_ENST00000291495.4_Silent_p.L863L			Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	863						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						GCATCAACCTCGCCAAGCCCA	0.697000													4	10					0	0	0.000602214	0	0
FRMPD2	143162	broad.mit.edu	37	10	49482596	49482596	+	Silent	SNP	C	C	T	rs146713674		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:49482596C>T	ENST00000374201.3	-	1	317	c.15G>A	c.(13-15)acG>acA	p.T5T	FRMPD2_ENST00000407470.4_5'UTR	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	5					tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		CTGCGTCCTTCGTTAAAGGCT	0.488000													14	62					0	0	0.00121646	0	0
GLCCI1	113263	broad.mit.edu	37	7	8125931	8125931	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:8125931C>T	ENST00000223145.5	+	8	1964	c.1407C>T	c.(1405-1407)ctC>ctT	p.L469L		NM_138426.3	NP_612435.1	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1	469										endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		TAGGCCCCCTCTTACCTGCTT	0.502000													36	186					0	0	0.00111076	0	0
KIAA2022	340533	broad.mit.edu	37	X	73963193	73963193	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:73963193C>T	ENST00000373468.1	-	3	1850	c.1199G>A	c.(1198-1200)gGa>gAa	p.G400E	KIAA2022_ENST00000055682.5_Missense_Mutation_p.G400E			Q5QGS0	K2022_HUMAN	KIAA2022	400					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						ATTATCCTTTCCATCTTTCTT	0.443000													26	53					0	0	0.00127121	0	0
BCAS3	54828	broad.mit.edu	37	17	59093262	59093262	+	Splice_Site	SNP	G	G	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:59093262G>T	ENST00000589222.1	+	16	1705	c.1637_splice	c.e16+1	p.G546_splice	BCAS3_ENST00000585744.1_Splice_Site_p.G317_splice|BCAS3_ENST00000588462.1_Splice_Site_p.G546_splice|BCAS3_ENST00000408905.3_Splice_Site_p.G546_splice|BCAS3_ENST00000390652.5_Splice_Site_p.G546_splice|BCAS3_ENST00000407086.3_Splice_Site_p.G546_splice|BCAS3_ENST00000588874.1_Splice_Site_p.G317_splice			Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3	546						nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			AAACGAACCGGGTAAGGCCTT	0.413000													19	70					7.41877e-09	2.16167e-08	0.00188189	1	0
SLC4A4	8671	broad.mit.edu	37	4	72338444	72338444	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:72338444C>T	ENST00000340595.3	+	11	1724	c.1528C>T	c.(1528-1530)Cgc>Tgc	p.R510C	SLC4A4_ENST00000264485.5_Missense_Mutation_p.R554C|SLC4A4_ENST00000351898.6_Missense_Mutation_p.R554C|SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000425175.1_Missense_Mutation_p.R554C|SLC4A4_ENST00000512686.1_Missense_Mutation_p.R510C	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	554						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			TTTGGAGTTTCGCCTTTGGAT	0.408000													10	63					0	0	0.000978159	0	0
CUX2	23316	broad.mit.edu	37	12	111701574	111701574	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:111701574C>T	ENST00000261726.6	+	4	386	c.232C>T	c.(232-234)Ctt>Ttt	p.L78F	CUX2_ENST00000551604.2_3'UTR	NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	78						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						GGTGGTGGCCCTTAGTAAGAG	0.418000													45	187					0	0	0.00361006	0	0
TMEM132A	54972	broad.mit.edu	37	11	60701052	60701052	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:60701052G>A	ENST00000005286.4	+	8	1551	c.1398G>A	c.(1396-1398)aaG>aaA	p.K466K	TMEM132A_ENST00000453848.2_Silent_p.K465K	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN	transmembrane protein 132A	465						endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						TGGCTGGCAAGGAGAGCCGGG	0.697000													16	13					0	0	0.000958276	0	0
OPRK1	4986	broad.mit.edu	37	8	54147445	54147445	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:54147445G>A	ENST00000265572.3	-	3	781	c.484C>T	c.(484-486)Cac>Tac	p.H162Y	OPRK1_ENST00000524278.1_Missense_Mutation_p.H73Y|RP11-162D9.3_ENST00000524425.1_RNA|OPRK1_ENST00000520287.1_Missense_Mutation_p.H162Y	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	162					behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	TTCACGGGGTGGCACACGGCA	0.483000													4	24					0	0	0.00024832	0	0
SLC26A5	375611	broad.mit.edu	37	7	103029808	103029808	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:103029808G>A	ENST00000306312.3	-	13	1636	c.1375C>T	c.(1375-1377)Ccc>Tcc	p.P459S	SLC26A5_ENST00000432958.2_Intron|SLC26A5_ENST00000393723.1_Intron|SLC26A5_ENST00000393727.1_Missense_Mutation_p.P459S|SLC26A5_ENST00000393729.1_Missense_Mutation_p.P422S|SLC26A5_ENST00000393730.1_Intron|SLC26A5_ENST00000393735.2_Missense_Mutation_p.P459S|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000354356.4_5'UTR|SLC26A5_ENST00000339444.6_Missense_Mutation_p.P459S	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	459					regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						CAGAAAAAGGGGAGATCTGAG	0.438000													12	107					0	0	0.00244969	0	0
TNC	3371	broad.mit.edu	37	9	117853099	117853099	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:117853099C>T	ENST00000350763.4	-	2	610	c.199G>A	c.(199-201)Gat>Aat	p.D67N	TNC_ENST00000341037.4_Missense_Mutation_p.D67N|TNC_ENST00000542877.1_Missense_Mutation_p.D67N|TNC_ENST00000423613.2_Missense_Mutation_p.D67N|TNC_ENST00000537320.1_Missense_Mutation_p.D67N|TNC_ENST00000535648.1_Missense_Mutation_p.D67N|TNC_ENST00000345230.3_Missense_Mutation_p.D67N|TNC_ENST00000346706.3_Missense_Mutation_p.D67N|TNC_ENST00000340094.3_Missense_Mutation_p.D67N	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	67					cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GACTCCAGATCCACCGAACAC	0.552000													14	26					0	0	0.000566183	0	0
XIAP	331	broad.mit.edu	37	X	123034363	123034363	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:123034363C>T	ENST00000371199.3	+	6	1419	c.1120C>T	c.(1120-1122)Cct>Tct	p.P374S	XIAP_ENST00000434753.3_Missense_Mutation_p.P374S|XIAP_ENST00000355640.3_Missense_Mutation_p.P374S|XIAP_ENST00000468691.1_3'UTR	NM_001167.3	NP_001158.2	P98170	XIAP_HUMAN	X-linked inhibitor of apoptosis	374					anti-apoptosis|apoptosis|induction of apoptosis by intracellular signals|response to DNA damage stimulus	cytosol	caspase inhibitor activity|ligase activity|protein binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)	25						CTTCCAAAATCCTATGGTACA	0.299000									X-linked Lymphoproliferative syndrome				14	35					0	0	0.000566183	0	0
VPS13C	54832	broad.mit.edu	37	15	62165568	62165568	+	Silent	SNP	A	A	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:62165568A>G	ENST00000261517.5	-	78	10528	c.10455T>C	c.(10453-10455)gtT>gtC	p.V3485V	VPS13C_ENST00000395898.3_Silent_p.V3442V|VPS13C_ENST00000395896.4_Silent_p.V3485V|VPS13C_ENST00000249837.3_Silent_p.V3442V	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	3485					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						AACCTTTCCCAACAGAACCGG	0.428000													12	77					0	0	0.00400662	0	0
ZFHX4	79776	broad.mit.edu	37	8	77776234	77776234	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:77776234C>T	ENST00000521891.2	+	11	10732	c.10284C>T	c.(10282-10284)ttC>ttT	p.F3428F	ZFHX4_ENST00000518282.1_Silent_p.F3402F|ZFHX4_ENST00000050961.6_Silent_p.F3379F|ZFHX4_ENST00000455469.2_Silent_p.F3383F	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3379						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.F3412F(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TCTGTTATTTCGGTCAGCCTT	0.438000										HNSCC(33;0.089)			5	21					0	0	0.00116845	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72138062	72138062	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:72138062C>T	ENST00000555818.1	+	8	2830	c.2482C>T	c.(2482-2484)Cct>Tct	p.P828S	SIPA1L1_ENST00000358550.2_Missense_Mutation_p.P828S|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.P303S|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.P828S	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	828	Rap-GAP.				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CCCTATCGACCCTTCTGGCAA	0.512000													8	26					0	0	0.00307968	0	0
RNF148	378925	broad.mit.edu	37	7	122342384	122342384	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:122342384G>A	ENST00000434824.1	-	1	637	c.421C>T	c.(421-423)Ccc>Tcc	p.P141S	RNF148_ENST00000447240.1_Intron|CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000449022.2_Intron	NM_198085.1	NP_932351.1	Q8N7C7	RN148_HUMAN	ring finger protein 148	141	PA.					integral to membrane	zinc ion binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(7)	16						TGAGACATGGGAAATACTTTA	0.448000													17	129					0	0	0.00400662	0	0
AKAP9	10142	broad.mit.edu	37	7	91695830	91695830	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:91695830C>T	ENST00000359028.2	+	27	6561	c.6336C>T	c.(6334-6336)ttC>ttT	p.F2112F	AKAP9_ENST00000356239.3_Silent_p.F2100F|AKAP9_ENST00000358100.2_Silent_p.F2112F			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	2112	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TTCCTCGATTCCAGCCTATCA	0.363000			T	BRAF	papillary thyroid								13	104					0	0	0.00316338	0	0
EMC4	51234	broad.mit.edu	37	15	34521959	34521959	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:34521959G>A	ENST00000267750.4	+	5	638	c.522G>A	c.(520-522)atG>atA	p.M174I	EMC4_ENST00000249209.4_Missense_Mutation_p.G121R|EMC4_ENST00000559421.1_Missense_Mutation_p.M69I	NM_016454.2	NP_057538.1			ER membrane protein complex subunit 4																		TTCAGAGAATGGAGTTCAGTG	0.388000													14	59					0	0	0.00316338	0	0
EYA1	2138	broad.mit.edu	37	8	72246358	72246358	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:72246358C>T	ENST00000340726.3	-	4	815	c.176G>A	c.(175-177)gGg>gAg	p.G59E	EYA1_ENST00000303824.7_Missense_Mutation_p.G59E|EYA1_ENST00000388741.2_Missense_Mutation_p.G26E|EYA1_ENST00000388743.2_Missense_Mutation_p.G59E|EYA1_ENST00000388740.3_Missense_Mutation_p.G26E|EYA1_ENST00000419131.1_Missense_Mutation_p.G59E|EYA1_ENST00000388742.4_Missense_Mutation_p.G59E	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	eyes absent homolog 1 (Drosophila)	59					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			GTTTAAAGACCCGTCGGCTGT	0.333000													17	59					0	0	0.00121646	0	0
ANO6	196527	broad.mit.edu	37	12	45771870	45771870	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:45771870T>C	ENST00000320560.8	+	10	1341	c.1139T>C	c.(1138-1140)gTc>gCc	p.V380A	ANO6_ENST00000423947.3_Missense_Mutation_p.V401A|ANO6_ENST00000435642.1_Missense_Mutation_p.V380A|ANO6_ENST00000441606.2_Missense_Mutation_p.V362A|ANO6_ENST00000425752.2_Missense_Mutation_p.V380A|ANO6_ENST00000426898.2_3'UTR	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	380					activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						GGAACCCTGGTCTTTGCAGTA	0.313000													28	97					0	0	0.0024448	0	0
B4GALNT3	283358	broad.mit.edu	37	12	670597	670597	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:670597C>A	ENST00000266383.5	+	20	2990	c.2977C>A	c.(2977-2979)Cgc>Agc	p.R993S		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	993						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			GTGGAGCCGTCGCCAGATGAA	0.622000													5	12					3.59834e-05	0.000104376	0.00116845	1	0
NF1	4763	broad.mit.edu	37	17	29665022	29665022	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:29665022C>T	ENST00000444181.2	+	2	67	c.63C>T	c.(61-63)ttC>ttT	p.F21F	NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron|NF1_ENST00000417592.2_Intron			P21359	NF1_HUMAN	neurofibromin 1	0					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TTTATAAGTTCTGTGGATCTT	0.299000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			14	53					0	0	0.00185496	0	0
ZNF138	7697	broad.mit.edu	37	7	64291840	64291840	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:64291840C>T	ENST00000359735.3	+	4	396	c.49C>T	c.(49-51)Cgt>Tgt	p.R17C	ZNF138_ENST00000494380.1_Silent_p.L119L|ZNF138_ENST00000397136.2_Missense_Mutation_p.R17C|ZNF138_ENST00000307355.7_Missense_Mutation_p.R74C|ZNF138_ENST00000440155.2_Missense_Mutation_p.R48C|ZNF138_ENST00000430838.2_3'UTR|ZNF138_ENST00000437743.1_Missense_Mutation_p.R42C|ZNF138_ENST00000440598.1_3'UTR	NM_001271637.1|NM_001271639.1	NP_001258566.1|NP_001258568.1	B4DP87	B4DP87_HUMAN	zinc finger protein 138	48					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			kidney(1)|large_intestine(3)|lung(2)|stomach(1)	7		Lung NSC(55;0.0795)|all_lung(88;0.18)				TCTGTGTTCTCGTTTTGCCCA	0.333000													17	101					0	0	0.00074312	0	0
SSX7	280658	broad.mit.edu	37	X	52682505	52682505	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:52682505G>A	ENST00000298181.5	-	2	176	c.18C>T	c.(16-18)gcC>gcT	p.A6A		NM_173358.2	NP_775494.1	Q7RTT5	SSX7_HUMAN	synovial sarcoma, X breakpoint 7	6					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|skin(1)	16	Ovarian(276;0.236)					TCCTTGCAAAGGCGTCGTCTC	0.552000													25	107					0	0	0.000878237	0	0
FAT4	79633	broad.mit.edu	37	4	126411405	126411405	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:126411405G>A	ENST00000394329.3	+	17	13441	c.13428G>A	c.(13426-13428)ggG>ggA	p.G4476G	FAT4_ENST00000335110.5_Silent_p.G2717G	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4476					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			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						GTCCTCAGGGGAAGGTGTGCA	0.612000													8	25					0	0	0.000673444	0	0
OR2W3	343171	broad.mit.edu	37	1	248059641	248059641	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:248059641C>T	ENST00000537741.1	+	3	1010	c.753C>T	c.(751-753)ttC>ttT	p.F251F	OR2W3_ENST00000360358.3_Silent_p.F251F			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TCTCCCTTTTCTATGGAAACA	0.527000													20	51					0	0	0.00395357	0	0
POM121	9883	broad.mit.edu	37	7	72409160	72409160	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:72409160C>T	ENST00000395270.1	+	9	1553	c.512C>T	c.(511-513)cCc>cTc	p.P171L	POM121_ENST00000434423.2_Missense_Mutation_p.P436L|POM121_ENST00000446813.1_Missense_Mutation_p.P171L|POM121_ENST00000257622.4_Missense_Mutation_p.P171L|POM121_ENST00000358357.3_Missense_Mutation_p.P171L	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	436	Pore side (Potential).|Pro-rich.|Required for targeting to the nucleus and nuclear pore complex.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				AGTTCATCACCCTTCTCTAGC	0.507000													29	189					0	0	0.00283554	0	0
CPNE4	131034	broad.mit.edu	37	3	131442365	131442365	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:131442365G>A	ENST00000512055.1	-	7	2411	c.285C>T	c.(283-285)gtC>gtT	p.V95V	CPNE4_ENST00000429747.1_Silent_p.V95V|CPNE4_ENST00000512332.1_Silent_p.V113V|CPNE4_ENST00000502818.1_Silent_p.V113V|CPNE4_ENST00000511604.1_Silent_p.V95V			Q96A23	CPNE4_HUMAN	copine IV	95	C2 1.									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						TGATGTCATGGACTTCAAACC	0.527000													33	104					0	0	0.000953801	0	0
IP6K1	9807	broad.mit.edu	37	3	49765026	49765026	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:49765026G>A	ENST00000468463.1	-	6	1134	c.820C>T	c.(820-822)Cat>Tat	p.H274Y	IP6K1_ENST00000460540.1_Silent_p.S120S|IP6K1_ENST00000321599.4_Silent_p.S285S|IP6K1_ENST00000395238.1_Silent_p.S120S			Q92551	IP6K1_HUMAN	inositol hexakisphosphate kinase 1	0					phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|skin(2)	15						AGCCTTCAATGGAGAGCCCAC	0.567000													11	21					0	0	0.000673444	0	0
RP1	6101	broad.mit.edu	37	8	55540397	55540397	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:55540397G>A	ENST00000220676.1	+	4	4103	c.3955G>A	c.(3955-3957)Gag>Aag	p.E1319K		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1319					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)			TGCTCAAAAGGAGAACCATAC	0.403000													13	114					0	0	0.00316338	0	0
MEOX2	4223	broad.mit.edu	37	7	15652188	15652188	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:15652188C>T	ENST00000262041.5	-	3	1148	c.739G>A	c.(739-741)Ggt>Agt	p.G247S		NM_005924.4	NP_005915.2	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	247					blood circulation|multicellular organismal development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		TGCTGTCCACCCTTTACCCTC	0.473000													11	76					0	0	0.00185496	0	0
TRIM42	287015	broad.mit.edu	37	3	140406593	140406593	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:140406593G>A	ENST00000286349.3	+	3	1260	c.1069G>A	c.(1069-1071)Gaa>Aaa	p.E357K		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	357						intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TGACCTAATGGAATTCAACAT	0.373000													9	33					0	0	0.000442599	0	0
ANGPT2	285	broad.mit.edu	37	8	6420387	6420387	+	Silent	SNP	C	C	T	rs147566463		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:6420387C>T	ENST00000325203.5	-	1	543	c.69G>A	c.(67-69)cgG>cgA	p.R23R	MCPH1_ENST00000344683.5_Intron|ANGPT2_ENST00000523120.1_Silent_p.R23R|ANGPT2_ENST00000415216.1_Silent_p.R23R|ANGPT2_ENST00000338312.6_Silent_p.R23R			O15123	ANGP2_HUMAN	angiopoietin 2	23					angiogenesis|blood coagulation|leukocyte migration|negative regulation of blood vessel endothelial cell migration|negative regulation of positive chemotaxis|Tie receptor signaling pathway	extracellular space	metal ion binding|receptor tyrosine kinase binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(245;0.0663)		Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226)		CCATGCTCTTCCGAAAGTTGT	0.473000													7	39					0	0	0.00198382	0	0
POLE	5426	broad.mit.edu	37	12	133252321	133252321	+	Splice_Site	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:133252321C>T	ENST00000320574.5	-	11	1149	c.1106_splice	c.e11+1	p.W369_splice	POLE_ENST00000535270.1_Splice_Site_p.W342_splice	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	369					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		ACAGACTCACCAGTCAAAAAA	0.542000								DNA polymerases (catalytic subunits)					17	60					0	0	0.000958276	0	0
ULK1	8408	broad.mit.edu	37	12	132400954	132400954	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:132400954C>T	ENST00000321867.4	+	20	2241	c.1890C>T	c.(1888-1890)tcC>tcT	p.S630S		NM_003565.2	NP_003556.1	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	630					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)		CTGTGCCCTCCTTTGACTTCC	0.692000													9	30					0	0	0.00136819	0	0
USP17L2	377630	broad.mit.edu	37	8	11995102	11995102	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:11995102C>T	ENST00000333796.3	-	1	1484	c.1168G>A	c.(1168-1170)Gaa>Aaa	p.E390K	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	390					apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						GCTCTTGGTTCCCTGCCTCTT	0.557000													13	32					0	0	0.00074312	0	0
OGDH	4967	broad.mit.edu	37	7	44713424	44713424	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:44713424C>T	ENST00000222673.5	+	6	714	c.672C>T	c.(670-672)ttC>ttT	p.F224F	OGDH_ENST00000449767.1_Silent_p.F220F|OGDH_ENST00000447398.1_Silent_p.F235F|OGDH_ENST00000439616.2_Intron|OGDH_ENST00000459672.1_3'UTR|OGDH_ENST00000444676.1_Silent_p.F239F|OGDH_ENST00000443864.2_Silent_p.F224F|OGDH_ENST00000543843.1_Silent_p.F175F	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	224					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	AGTTCATGTTCATCAATGACC	0.517000													13	82					0	0	0.00316338	0	0
ETV4	2118	broad.mit.edu	37	17	41610101	41610101	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:41610101C>T	ENST00000319349.5	-	8	1050	c.752G>A	c.(751-753)aGg>aAg	p.R251K	ETV4_ENST00000545089.1_Missense_Mutation_p.R197K|ETV4_ENST00000545954.1_Missense_Mutation_p.R212K|ETV4_ENST00000538265.1_Missense_Mutation_p.R212K|ETV4_ENST00000591713.1_Missense_Mutation_p.R251K|ETV4_ENST00000393664.2_Missense_Mutation_p.R251K	NM_001079675.2	NP_001073143.1	P43268	ETV4_HUMAN	ets variant 4	251					positive regulation of transcription, DNA-dependent	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/ETV4(6)|CANT1/ETV4(3)|TMPRSS2/ETV4(13)|DDX5_ENST00000540698/ETV4(2)|KLK2/ETV4(2)	ovary(2)|upper_aerodigestive_tract(1)	3		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0798)		CCCTGGGTACCTGTGCCCATT	0.597000			T	"""EWSR1, TMPRSS2, DDX5, KLK2, CANT1"""	"""Ewing sarcoma, Prostate carcinoma"""								6	41					0	0	0.000442599	0	0
TMEM2	23670	broad.mit.edu	37	9	74360004	74360004	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:74360004G>A	ENST00000377044.4	-	4	1503	c.964C>T	c.(964-966)Ctc>Ttc	p.L322F	TMEM2_ENST00000377066.5_Missense_Mutation_p.L322F	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	322						integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		CCTTGTAAGAGACTTTTAGCG	0.512000													8	43					0	0	0.000442599	0	0
RALYL	138046	broad.mit.edu	37	8	85686847	85686847	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:85686847G>A	ENST00000521268.1	+	3	1395	c.290G>A	c.(289-291)aGa>aAa	p.R97K	RALYL_ENST00000521376.1_Missense_Mutation_p.R24K|RALYL_ENST00000521695.1_Missense_Mutation_p.R97K|RALYL_ENST00000517638.1_Missense_Mutation_p.R110K|RALYL_ENST00000522455.1_Missense_Mutation_p.R97K|RALYL_ENST00000518566.1_Missense_Mutation_p.R97K|RALYL_ENST00000523850.1_Missense_Mutation_p.R24K	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	97							identical protein binding|nucleotide binding|RNA binding			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						AAACCATACAGACCAAAACCT	0.353000													9	13					0	0	0.000673444	0	0
SIGLEC12	89858	broad.mit.edu	37	19	52000216	52000216	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:52000216C>T	ENST00000291707.3	-	7	1572	c.1517G>A	c.(1516-1518)aGg>aAg	p.R506K	SIGLEC12_ENST00000598614.1_Missense_Mutation_p.R388K	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	506					cell adhesion	integral to membrane	sugar binding			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CGATTTCTTCCTGCAGGACCT	0.577000													9	35					0	0	0.00136819	0	0
RAI2	10742	broad.mit.edu	37	X	17820124	17820124	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:17820124C>T	ENST00000545871.1	-	3	467	c.7G>A	c.(7-9)Gac>Aac	p.D3N	RP3-389A20.4_ENST00000509491.2_Missense_Mutation_p.D3N|RAI2_ENST00000451717.1_Missense_Mutation_p.D3N|RAI2_ENST00000415486.3_Missense_Mutation_p.D3N|RAI2_ENST00000360011.1_Missense_Mutation_p.D3N|RAI2_ENST00000331511.1_Missense_Mutation_p.D3N	NM_001172739.1|NM_001172743.1	NP_001166210.1|NP_001166214.1	Q9Y5P3	RAI2_HUMAN	retinoic acid induced 2	3					embryo development					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					GACTGCAGGTCGTCCATCACT	0.478000													20	56					0	0	0.00332997	0	0
SNHG14	104472715	broad.mit.edu	37	15	25463857	25463857	+	RNA	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:25463857G>A	ENST00000424208.1	+	0	2994				SNHG14_ENST00000453082.2_RNA	NR_003305.1																						GCCTGGGGGAGAATTTTGGAA	0.527000													23	126					0	0	0.00395357	0	0
GIMAP1	170575	broad.mit.edu	37	7	150417905	150417905	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:150417905C>T	ENST00000307194.5	+	3	953	c.813C>T	c.(811-813)ccC>ccT	p.P271P		NM_130759.3	NP_570115.1			GTPase, IMAP family member 1											NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGAAGTCCCCCAGGAGCTGGA	0.746000													12	0					0	0	0.00136819	0	0
EXD1	161829	broad.mit.edu	37	15	41482327	41482327	+	Splice_Site	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:41482327C>T	ENST00000314992.5	-	9	881		c.e9-1		EXD1_ENST00000458580.2_Splice_Site	NM_152596.2	NP_689809.2	Q8NHP7	EXD1_HUMAN	exonuclease 3'-5' domain containing 1						nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2)	16						CTGGATTTTCCTGGAGACAAT	0.448000													37	27					0	0	0.00222228	0	0
AP3D1	8943	broad.mit.edu	37	19	2115325	2115325	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:2115325C>G	ENST00000355272.6	-	20	2448	c.2242G>C	c.(2242-2244)Gag>Cag	p.E748Q	AP3D1_ENST00000345016.5_Missense_Mutation_p.E748Q|AP3D1_ENST00000356926.4_Missense_Mutation_p.E657Q|AP3D1_ENST00000350812.6_Missense_Mutation_p.E579Q	NM_001261826.1	NP_001248755.1	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	748					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		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)		ttctccttctccttcctcttt	0.617000													11	27					0	0	0.000978159	0	0
LAMA5	3911	broad.mit.edu	37	20	60909380	60909380	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:60909380G>A	ENST00000252999.3	-	22	2667	c.2601C>T	c.(2599-2601)taC>taT	p.Y867Y		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	867	Domain IV 1 (domain IV B).				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGTCCGGGAGGTAGTGGTCCC	0.677000													3	1					0	0	0.00024832	0	0
CARD17	440068	broad.mit.edu	37	11	104971442	104971442	+	Silent	SNP	G	G	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:104971442G>C	ENST00000375707.1	-	2	88	c.72C>G	c.(70-72)ggC>ggG	p.G24G	CASP1_ENST00000594519.1_Intron|CASP1_ENST00000415981.2_Intron|CASP1_ENST00000593315.1_Intron|CARD16_ENST00000525374.1_Intron|CASP1_ENST00000598974.1_Intron	NM_001007232.1	NP_001007233.1			caspase recruitment domain family, member 17											breast(1)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	6						CACCCAGTAAGCCATTTATTG	0.433000													9	47					0	0	0.000274275	0	0
GPR111	222611	broad.mit.edu	37	6	47647918	47647918	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:47647918T>C	ENST00000398742.2	+	4	428	c.379T>C	c.(379-381)Tct>Cct	p.S127P	GPR111_ENST00000507065.1_Missense_Mutation_p.S127P|GPR111_ENST00000296862.1_Missense_Mutation_p.S195P			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	195					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						CACAGATCTGTCTTGTGTAAT	0.383000													10	89					0	0	0.000978159	0	0
CTC-260E6.6	0	broad.mit.edu	37	19	20369753	20369753	+	RNA	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:20369753C>T	ENST00000593655.1	-	0	199																											CCTTAGAAACCACAGTATTAG	0.398000													5	44					0	0	0.00116845	0	0
LRRC7	57554	broad.mit.edu	37	1	70555436	70555436	+	Silent	SNP	T	T	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:70555436T>G	ENST00000310961.5	+	25	4657	c.4239T>G	c.(4237-4239)ccT>ccG	p.P1413P	LRRC7_ENST00000415775.2_Silent_p.P739P|LRRC7_ENST00000035383.5_Silent_p.P1455P			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1455						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						AAAAGAATCCTGGCCTTGGAT	0.294000													10	68					0	0	0.000442599	0	0
LRTM2	654429	broad.mit.edu	37	12	1940672	1940672	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:1940672G>A	ENST00000543818.1	+	4	1481	c.639G>A	c.(637-639)atG>atA	p.M213I	CACNA2D4_ENST00000585708.1_Intron|CACNA2D4_ENST00000382722.5_Intron|LRTM2_ENST00000299194.1_Missense_Mutation_p.M213I|LRTM2_ENST00000535041.1_Missense_Mutation_p.M213I|CACNA2D4_ENST00000588077.1_Intron|CACNA2D4_ENST00000587995.1_Intron|CACNA2D4_ENST00000586184.1_Intron|CACNA2D4_ENST00000585732.1_Intron|LRTM2_ENST00000543730.1_Intron	NM_001039029.2|NM_001163925.1|NM_001163926.1	NP_001034118.1|NP_001157397.1|NP_001157398.1	Q8N967	LRTM2_HUMAN	leucine-rich repeats and transmembrane domains 2	213	LRRCT.					integral to membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			AACACTGGATGGAGTGGTTCT	0.612000													15	25					0	0	0.000566183	0	0
GRIA1	2890	broad.mit.edu	37	5	152870489	152870489	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:152870489G>A	ENST00000285900.5	+	1	384	c.41G>A	c.(40-42)gGc>gAc	p.G14D	GRIA1_ENST00000518862.1_Intron|GRIA1_ENST00000340592.5_Missense_Mutation_p.G14D|GRIA1_ENST00000518142.1_Missense_Mutation_p.G14D	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	14					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GGTTTCCTAGGCGCGGTAGTA	0.512000													49	72					0	0	0.00361006	0	0
TRIM24	8805	broad.mit.edu	37	7	138189106	138189106	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:138189106A>C	ENST00000343526.4	+	2	651	c.436A>C	c.(436-438)Aag>Cag	p.K146Q	TRIM24_ENST00000415680.2_Missense_Mutation_p.K146Q|TRIM24_ENST00000497516.1_3'UTR			O15164	TIF1A_HUMAN	tripartite motif containing 24	146					cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						CTTTTTTGTGAAGGACACTAC	0.373000													18	138					0	0	0.000566183	0	0
NUAK2	81788	broad.mit.edu	37	1	205275413	205275413	+	Missense_Mutation	SNP	T	T	C	rs114209340	by1000genomes	TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:205275413T>C	ENST00000367157.3	-	5	719	c.593A>G	c.(592-594)aAc>aGc	p.N198S		NM_030952.1	NP_112214.1	Q9H093	NUAK2_HUMAN	NUAK family, SNF1-like kinase, 2	198	Protein kinase.				actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			ATGGTAGAGGTTGGAGAGACC	0.557000													11	56					0	0	0.00244969	0	0
ADH1C	126	broad.mit.edu	37	4	100263983	100263983	+	RNA	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:100263983G>A	ENST00000515683.1	-	0	1148					NM_000669.3	NP_000660.1	P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	GACTTCAAACGAAAAATCCAC	0.463000													26	84					0	0	0.00127121	0	0
OLR1	4973	broad.mit.edu	37	12	10313409	10313409	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:10313409C>T	ENST00000309539.3	-	4	600	c.540G>A	c.(538-540)ctG>ctA	p.L180L	OLR1_ENST00000544577.1_Intron|OLR1_ENST00000543993.1_Intron|OLR1_ENST00000432556.2_Intron|OLR1_ENST00000545927.1_Silent_p.L180L	NM_002543.3	NP_002534.1	P78380	OLR1_HUMAN	oxidized low density lipoprotein (lectin-like) receptor 1	180	C-type lectin.				blood circulation|blood coagulation|inflammatory response|leukocyte migration|proteolysis	extracellular region|integral to plasma membrane|membrane fraction	sugar binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	10						TATTAATTTTCAGCAACTTGG	0.418000													34	141					0	0	0.00148497	0	0
DYSF	8291	broad.mit.edu	37	2	71783145	71783145	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:71783145G>A	ENST00000258104.3	+	22	2383	c.2106G>A	c.(2104-2106)acG>acA	p.T702T	DYSF_ENST00000409366.1_Silent_p.T703T|DYSF_ENST00000394120.2_Silent_p.T703T|DYSF_ENST00000409651.1_Silent_p.T734T|DYSF_ENST00000413539.2_Silent_p.T733T|DYSF_ENST00000410020.3_Silent_p.T720T|DYSF_ENST00000410041.1_Silent_p.T720T|DYSF_ENST00000409762.1_Silent_p.T719T|DYSF_ENST00000409582.3_Silent_p.T719T|DYSF_ENST00000409744.1_Silent_p.T689T|DYSF_ENST00000429174.2_Silent_p.T702T	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	702						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						AGTGCTCCACGGAGGACGTGG	0.667000													6	5					0	0	0.00198382	0	0
PICK1	9463	broad.mit.edu	37	22	38469033	38469033	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr22:38469033C>T	ENST00000404072.3	+	10	1064	c.717C>T	c.(715-717)ctC>ctT	p.L239L	PICK1_ENST00000356976.3_Silent_p.L239L|RP5-1039K5.13_ENST00000445483.1_RNA	NM_001039583.1|NM_001039584.1	NP_001034672.1|NP_001034673.1	Q9NRD5	PICK1_HUMAN	protein interacting with PRKCA 1	239	AH.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|DNA methylation involved in embryo development|DNA methylation involved in gamete generation|monoamine transport|neuronal ion channel clustering|protein phosphorylation|receptor clustering|retrograde vesicle-mediated transport, Golgi to ER|synaptic transmission	cell junction|endocytic vesicle membrane|Golgi apparatus|perinuclear region of cytoplasm|presynaptic membrane	ATPase activity|metal ion binding|protein C-terminus binding|protein kinase C binding|receptor binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	Melanoma(58;0.045)					ACACGTACCTCAACAAAGCCA	0.567000													7	55					0	0	0.000274275	0	0
CD1E	913	broad.mit.edu	37	1	158325285	158325285	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:158325285G>A	ENST00000444681.2	+	2	547	c.254G>A	c.(253-255)aGc>aAc	p.S85N	CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368163.3_Missense_Mutation_p.S184N|CD1E_ENST00000452291.2_Intron|CD1E_ENST00000368165.3_Intron|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000434258.1_Missense_Mutation_p.S182N|CD1E_ENST00000368156.1_Intron|CD1E_ENST00000368161.3_Missense_Mutation_p.S184N|CD1E_ENST00000368155.3_Intron|CD1E_ENST00000368167.3_Missense_Mutation_p.S184N|CD1E_ENST00000368160.3_Missense_Mutation_p.S184N	NM_001185114.1	NP_001172043.1	P15812	CD1E_HUMAN	CD1e molecule	184					antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					ATACTGCAAAGCCTTCTTGGT	0.527000													6	27					0	0	0.00198382	0	0
MUC21	394263	broad.mit.edu	37	6	30954473	30954473	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:30954473C>T	ENST00000376296.3	+	2	762	c.521C>T	c.(520-522)tCc>tTc	p.S174F	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	174	28 X 15 AA approximate tandem repeats.|Ser-rich.					integral to membrane|plasma membrane				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						AGCACAACCTCCAGTGGGGCC	0.612000													15	99					0	0	0.00244969	0	0
TBC1D32	221322	broad.mit.edu	37	6	121613284	121613284	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:121613284G>A	ENST00000275159.6	-	12	1286	c.1287C>T	c.(1285-1287)ttC>ttT	p.F429F	TBC1D32_ENST00000398212.2_Silent_p.F429F					TBC1 domain family, member 32																		GTGAGTGAATGAAATAAATAT	0.279000													13	53					0	0	0.00244969	0	0
NARS	4677	broad.mit.edu	37	18	55269716	55269716	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:55269716G>A	ENST00000256854.5	-	13	1841	c.1386C>T	c.(1384-1386)gtC>gtT	p.V462V	NARS_ENST00000423481.2_Silent_p.V213V	NM_004539.3	NP_004530.1	O43776	SYNC_HUMAN	asparaginyl-tRNA synthetase	462					asparaginyl-tRNA aminoacylation	cytosol|soluble fraction	asparagine-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding			breast(1)|endometrium(5)|large_intestine(5)|lung(8)|skin(1)	20		Colorectal(73;0.227)			L-Asparagine(DB00174)	TCAACACGTCGACCTTTAAAT	0.398000													20	11					0	0	0.00152264	0	0
SLC9A2	6549	broad.mit.edu	37	2	103318920	103318920	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:103318920C>T	ENST00000233969.2	+	9	1946	c.1804C>T	c.(1804-1806)Cga>Tga	p.R602*		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	602						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	p.R602G(1)		breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						TGATGAAATTCGAGAACTCTT	0.328000													30	105					0	0	0.000953801	0	0
KCNB2	9312	broad.mit.edu	37	8	73848829	73848829	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:73848829C>T	ENST00000523207.1	+	3	1827	c.1239C>T	c.(1237-1239)atC>atT	p.I413I		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	413					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			CCCTTCCTATCCCAATTATTG	0.443000													5	62					0	0	0.000602214	0	0
MOCS3	27304	broad.mit.edu	37	20	49575512	49575512	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:49575512C>T	ENST00000244051.1	+	1	150	c.133C>T	c.(133-135)Ccg>Tcg	p.P45S		NM_014484.3	NP_055299.1	O95396	MOCS3_HUMAN	molybdenum cofactor synthesis 3	45					enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme activity	p.P45T(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	24						ACGGCTGGTTCCGGTGTCGCC	0.622000													13	36					0	0	0.00400662	0	0
CSMD1	64478	broad.mit.edu	37	8	2965246	2965246	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:2965246C>T	ENST00000602557.1	-	46	7387	c.6832G>A	c.(6832-6834)Gaa>Aaa	p.E2278K	CSMD1_ENST00000537824.1_Missense_Mutation_p.E2277K|CSMD1_ENST00000542608.1_Missense_Mutation_p.E2277K|CSMD1_ENST00000400186.3_Missense_Mutation_p.E2278K|CSMD1_ENST00000520002.1_Missense_Mutation_p.E2278K|CSMD1_ENST00000602723.1_Missense_Mutation_p.E2278K			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2278	Sushi 13.					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)		TTACCTATTTCGAAATCATCA	0.358000													19	113					0	0	0.00278032	0	0
SAV1	60485	broad.mit.edu	37	14	51107525	51107525	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:51107525G>A	ENST00000324679.4	-	4	1256	c.893C>T	c.(892-894)cCa>cTa	p.P298L		NM_021818.3	NP_068590.1	Q9H4B6	SAV1_HUMAN	salvador homolog 1 (Drosophila)	298					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)					AGTATGATATGGATTTGCAGG	0.438000													13	35					0	0	0.00244969	0	0
FLG	2312	broad.mit.edu	37	1	152285532	152285532	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:152285532C>T	ENST00000368799.1	-	3	1865	c.1830G>A	c.(1828-1830)ggG>ggA	p.G610G	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	610	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)			TTGTCCTGGGCCCCGATGATT	0.572000									Ichthyosis				20	122					0	0	0.00152264	0	0
ADPRHL1	113622	broad.mit.edu	37	13	114107681	114107681	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr13:114107681C>T	ENST00000375418.3	-	1	158	c.72G>A	c.(70-72)aaG>aaA	p.K24K		NM_138430.3	NP_612439.2	Q8NDY3	ARHL1_HUMAN	ADP-ribosylhydrolase like 1	24					protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding	p.K24K(2)		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)			TGCTGTTCTCCTTGCAGACAT	0.577000													8	27					0	0	0.000274275	0	0
CNTN3	5067	broad.mit.edu	37	3	74350679	74350679	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:74350679C>T	ENST00000263665.6	-	15	1992	c.1965G>A	c.(1963-1965)ggG>ggA	p.G655G		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	655	Fibronectin type-III 1.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		TGTGCGTCTTCCCATCGATGA	0.428000													18	58					0	0	0.00278032	0	0
ARHGAP25	9938	broad.mit.edu	37	2	69014995	69014995	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:69014995G>A	ENST00000295381.3	+	4	792	c.373G>A	c.(373-375)Gga>Aga	p.G125R	ARHGAP25_ENST00000497079.1_Missense_Mutation_p.G118R|ARHGAP25_ENST00000467265.1_Intron|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.G118R|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.G118R|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.G125R|ARHGAP25_ENST00000544262.1_Missense_Mutation_p.G99R|ARHGAP25_ENST00000456116.2_Intron	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	125	PH.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						GAATCGCATGGGACAGGACTC	0.522000													16	56					0	0	0.00121646	0	0
BCL6	604	broad.mit.edu	37	3	187442854	187442854	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:187442854G>A	ENST00000406870.2	-	9	2218	c.1852C>T	c.(1852-1854)Cgt>Tgt	p.R618C	BCL6_ENST00000450123.2_Missense_Mutation_p.R562C|RP11-211G3.3_ENST00000449623.1_Intron|BCL6_ENST00000232014.4_Missense_Mutation_p.R618C|RP11-211G3.3_ENST00000437407.1_Intron	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	618					negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		ACATGGGCACGGAGGTGGGCC	0.587000			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""								5	30					0	0	0.00116845	0	0
KIAA1024	23251	broad.mit.edu	37	15	79748522	79748522	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:79748522G>C	ENST00000305428.3	+	2	108	c.33G>C	c.(31-33)ttG>ttC	p.L11F		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	11						integral to membrane				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						CCCTCTTCTTGGTGAAGATCT	0.468000													16	21					0	0	0.000566183	0	0
KIAA0430	9665	broad.mit.edu	37	16	15706616	15706616	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:15706616G>A	ENST00000396368.3	-	17	3478	c.3272C>T	c.(3271-3273)tCg>tTg	p.S1091L	KIAA0430_ENST00000344181.3_Missense_Mutation_p.S693L|KIAA0430_ENST00000602337.1_Missense_Mutation_p.S1088L|KIAA0430_ENST00000551742.1_Missense_Mutation_p.S1091L|KIAA0430_ENST00000548025.1_Missense_Mutation_p.S1088L|KIAA0430_ENST00000540441.2_Missense_Mutation_p.S926L	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN	KIAA0430	1090						peroxisome	nucleotide binding|RNA binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						AGGACTCTTCGAACGCAGAAG	0.473000													24	101					0	0	0.000720815	0	0
MMP13	4322	broad.mit.edu	37	11	102822831	102822831	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:102822831C>T	ENST00000260302.3	-	5	737	c.709G>A	c.(709-711)Gga>Aga	p.G237R	MMP13_ENST00000340273.4_Missense_Mutation_p.G237R	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	237					collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)		ATGAGTGCTCCAGGGTCCTTG	0.463000													12	63					0	0	0.000978159	0	0
CX3CR1	1524	broad.mit.edu	37	3	39307170	39307170	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:39307170C>T	ENST00000541347.1	-	2	1070	c.831G>A	c.(829-831)gtG>gtA	p.V277V	CX3CR1_ENST00000542107.1_Silent_p.V277V|CX3CR1_ENST00000399220.2_Silent_p.V277V|CX3CR1_ENST00000358309.3_Silent_p.V309V	NM_001171171.1	NP_001164642.1	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	277					cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		CCGTCTCAGTCACACTGAGGG	0.468000													21	75					0	0	0.00278032	0	0
KRT40	125115	broad.mit.edu	37	17	39140423	39140423	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:39140423G>A	ENST00000377755.4	-	1	137	c.103C>T	c.(103-105)Ccc>Tcc	p.P35S	KRT40_ENST00000398486.2_Missense_Mutation_p.P35S			Q6A162	K1C40_HUMAN	keratin 40	35	Head.					intermediate filament	structural molecule activity			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		Breast(137;0.00043)				CAGGTACCGGGGAGACAAGCT	0.582000													13	10					0	0	0.00136819	0	0
CRLF1	9244	broad.mit.edu	37	19	18709599	18709599	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:18709599G>A	ENST00000392386.3	-	3	703	c.510C>T	c.(508-510)tcC>tcT	p.S170S		NM_004750.4	NP_004741.1	O75462	CRLF1_HUMAN	cytokine receptor-like factor 1	170	Fibronectin type-III 1.				negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	cytokine binding|protein heterodimerization activity|receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	9						TGTACTTGAGGGAGTAGTTGG	0.607000													7	24					0	0	0.00307968	0	0
ZNF684	127396	broad.mit.edu	37	1	41012347	41012347	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:41012347C>T	ENST00000372699.3	+	5	603	c.352C>T	c.(352-354)Cat>Tat	p.H118Y	ZNF684_ENST00000493756.1_3'UTR	NM_152373.3	NP_689586.3	Q5T5D7	ZN684_HUMAN	zinc finger protein 684	118					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(2)|lung(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13	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;5.42e-18)			GAGAATCCACCATTATAATAT	0.323000													24	36					0	0	0.00332997	0	0
TENM1	10178	broad.mit.edu	37	X	123519762	123519762	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:123519762C>T	ENST00000422452.2	-	29	5904	c.5841G>A	c.(5839-5841)ccG>ccA	p.P1947P	TENM1_ENST00000371130.3_Silent_p.P1940P|STAG2_ENST00000469481.1_Intron	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		TGCTACTGTCCGGTGGGGTGT	0.507000													6	16					0	0	0.00198382	0	0
PTPRN	5798	broad.mit.edu	37	2	220167309	220167309	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:220167309G>A	ENST00000295718.2	-	5	868	c.628C>T	c.(628-630)Ctg>Ttg	p.L210L	PTPRN_ENST00000409251.3_Silent_p.L210L|AC114803.3_ENST00000417355.1_RNA|PTPRN_ENST00000423636.2_Silent_p.L120L	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	210					response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		TGGTGGAACAGGTAGGGCTGC	0.607000													16	36					0	0	0.000958276	0	0
SAMD9L	219285	broad.mit.edu	37	7	92760958	92760958	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:92760958G>A	ENST00000318238.4	-	5	5543	c.4327C>T	c.(4327-4329)Caa>Taa	p.Q1443*	SAMD9L_ENST00000437805.1_Nonsense_Mutation_p.Q1443*|SAMD9L_ENST00000411955.1_Nonsense_Mutation_p.Q1443*	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1443										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TTGGAATCTTGATCTAGCTCT	0.433000													7	77					0	0	0.00307968	0	0
SLAMF7	57823	broad.mit.edu	37	1	160721991	160721991	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:160721991G>A	ENST00000368043.3	+	6	926	c.889G>A	c.(889-891)Gaa>Aaa	p.E297K	SLAMF7_ENST00000359331.4_Missense_Mutation_p.G262E|SLAMF7_ENST00000458602.2_Missense_Mutation_p.E150K|SLAMF7_ENST00000444090.2_Missense_Mutation_p.G131E|SLAMF7_ENST00000458104.2_Missense_Mutation_p.G115E|SLAMF7_ENST00000368042.3_Missense_Mutation_p.E190K|SLAMF7_ENST00000441662.2_Missense_Mutation_p.E166K	NM_021181.3	NP_067004.3	Q9NQ25	SLAF7_HUMAN	SLAM family member 7	297					cell adhesion|natural killer cell activation|natural killer cell mediated cytotoxicity	integral to membrane	receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(4)	24	all_cancers(52;2.63e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			AATCCTAAAGGAAGATCCAGC	0.378000													7	47					0	0	0.000442599	0	0
HERC2P3	283755	broad.mit.edu	37	15	20649654	20649654	+	RNA	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:20649654G>A	ENST00000428453.1	-	0	2544																				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						ACTCGGCCTAGGCCTGGAGGA	0.552000													8	48					0	0	0.000274275	0	0
PIP5K1A	8394	broad.mit.edu	37	1	151206687	151206687	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:151206687C>T	ENST00000409426.1	+	7	1063	c.618C>T	c.(616-618)aaC>aaT	p.N206N	PIP5K1A_ENST00000368890.4_Silent_p.N205N|PIP5K1A_ENST00000464105.1_3'UTR|PIP5K1A_ENST00000441902.2_Silent_p.N206N|PIP5K1A_ENST00000368888.4_Silent_p.N218N			Q99755	PI51A_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, alpha	218	PIPK.				phospholipid biosynthetic process|signal transduction	endomembrane system|Golgi stack|lamellipodium|nuclear speck	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding			breast(1)|central_nervous_system(1)|ovary(1)|skin(1)|stomach(1)	5	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)			TCAACCAGAACCCTCGGACTT	0.443000													14	93					0	0	0.000566183	0	0
RERG	85004	broad.mit.edu	37	12	15262186	15262186	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:15262186T>G	ENST00000256953.2	-	5	794	c.458A>C	c.(457-459)gAa>gCa	p.E153A	RERG_ENST00000538313.1_Missense_Mutation_p.E153A|RERG_ENST00000546331.1_Missense_Mutation_p.E134A|RERG_ENST00000536465.1_Missense_Mutation_p.E153A	NM_032918.2	NP_116307.1	Q96A58	RERG_HUMAN	RAS-like, estrogen-regulated, growth inhibitor	153					negative regulation of cell growth|negative regulation of cell proliferation|response to hormone stimulus|small GTPase mediated signal transduction	cytosol|membrane|nucleus	estrogen receptor binding|GDP binding|GTP binding|GTPase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						GATGTTCCCTTCTCCAGTGCA	0.552000													18	59					0	0	0.00074312	0	0
LAMA3	3909	broad.mit.edu	37	18	21396436	21396436	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:21396436G>A	ENST00000313654.9	+	18	2373	c.2132G>A	c.(2131-2133)gGa>gAa	p.G711E	LAMA3_ENST00000399516.3_Missense_Mutation_p.G711E	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	711	Domain V.|Laminin EGF-like 8.				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)	CATGTCGTGGGAAAGGTGTGC	0.567000													5	23					0	0	0.00307968	0	0
PRLR	5618	broad.mit.edu	37	5	35065495	35065495	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:35065495G>A	ENST00000382002.5	-	10	1991	c.1565C>T	c.(1564-1566)tCa>tTa	p.S522L	PRLR_ENST00000348262.3_Intron|PRLR_ENST00000310101.5_Intron|PRLR_ENST00000542609.1_Intron|PRLR_ENST00000342362.5_Missense_Mutation_p.S421L|PRLR_ENST00000513753.1_Intron|PRLR_ENST00000231423.3_Intron|PRLR_ENST00000511486.1_Missense_Mutation_p.S421L|PRLR_ENST00000397391.3_Intron	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	522					activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	TGGTAGCAATGATAATGCACC	0.517000													14	66					0	0	0.00316338	0	0
MACC1	346389	broad.mit.edu	37	7	20198624	20198624	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:20198624C>T	ENST00000400331.5	-	5	1668	c.1360G>A	c.(1360-1362)Gaa>Aaa	p.E454K	MACC1_ENST00000589011.1_Missense_Mutation_p.E454K|MACC1_ENST00000332878.4_Missense_Mutation_p.E454K	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	454					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						TGTTTAATTTCTTTCCTTTCT	0.338000													6	32					0	0	0.00116845	0	0
PDYN	5173	broad.mit.edu	37	20	1961227	1961227	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:1961227C>T	ENST00000217305.2	-	4	732	c.507G>A	c.(505-507)aaG>aaA	p.K169K	RP4-684O24.5_ENST00000446562.1_RNA|PDYN_ENST00000540134.1_Silent_p.K169K|PDYN_ENST00000539905.1_Silent_p.K169K	NM_001190892.1|NM_001190898.2|NM_024411.4	NP_001177821.1|NP_001177827.1|NP_077722.1	P01213	PDYN_HUMAN	prodynorphin	169					cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TGACCTGCTCCTTGGGGTCCT	0.597000													5	43					0	0	0.00116845	0	0
RGL1	23179	broad.mit.edu	37	1	183895301	183895301	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:183895301T>C	ENST00000304685.3	+	19	2748	c.2287T>C	c.(2287-2289)Ttc>Ctc	p.F763L	RGL1_ENST00000536277.1_Missense_Mutation_p.F726L|RGL1_ENST00000360851.3_Missense_Mutation_p.F728L|RGL1_ENST00000367531.1_Missense_Mutation_p.F763L|RGL1_ENST00000539189.1_Missense_Mutation_p.F699L	NM_015149.3	NP_055964.3	Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	728					cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						GAACTTTGACTTCATTTTGCG	0.448000													22	104					0	0	0.00106085	0	0
ATP13A1	57130	broad.mit.edu	37	19	19766382	19766382	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:19766382G>A	ENST00000357324.6	-	10	1377	c.1351C>T	c.(1351-1353)Ctc>Ttc	p.L451F	ATP13A1_ENST00000291503.5_Missense_Mutation_p.L333F|ATP13A1_ENST00000496082.1_5'UTR	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN	ATPase type 13A1	451					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						AACACCAGGAGGAAGAGGATG	0.592000													6	14					0	0	0.00116845	0	0
CATSPERB	79820	broad.mit.edu	37	14	92091266	92091266	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:92091266C>T	ENST00000256343.3	-	18	1984	c.1828G>A	c.(1828-1830)Gag>Aag	p.E610K		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	610					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				CCAAAGGGCTCTTTCATTTCT	0.343000													11	47					0	0	0.000978159	0	0
HHLA2	11148	broad.mit.edu	37	3	108074059	108074059	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:108074059G>A	ENST00000357759.5	+	5	930	c.516G>A	c.(514-516)tgG>tgA	p.W172*	HHLA2_ENST00000489514.2_Nonsense_Mutation_p.W172*|HHLA2_ENST00000491820.1_Nonsense_Mutation_p.W172*|HHLA2_ENST00000467562.1_Nonsense_Mutation_p.W108*|HHLA2_ENST00000467761.1_Nonsense_Mutation_p.W172*	NM_007072.2	NP_009003.1	Q9UM44	HHLA2_HUMAN	HERV-H LTR-associating 2	172	Ig-like C1-type.					integral to membrane				endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						TTATCACGTGGAAAATGGACA	0.373000													5	28					0	0	0.00198382	0	0
FAM47A	158724	broad.mit.edu	37	X	34150032	34150032	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:34150032C>T	ENST00000346193.3	-	1	415	c.364G>A	c.(364-366)Gaa>Aaa	p.E122K		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	122										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						AGCTGGGCTTCCACTTGCTCT	0.542000													18	17					0	0	0.000958276	0	0
CRYGC	1420	broad.mit.edu	37	2	208993094	208993094	+	Missense_Mutation	SNP	C	C	T	rs149355001		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:208993094C>T	ENST00000282141.3	-	3	395	c.358G>A	c.(358-360)Gag>Aag	p.E120K		NM_020989.3	NP_066269.1	P07315	CRGC_HUMAN	crystallin, gamma C	120	Beta/gamma crystallin 'Greek key' 3.				visual perception	cytoplasm|nucleus	protein binding|structural constituent of eye lens			NS(1)|endometrium(1)|large_intestine(2)|lung(5)	9				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		GAACGGATCTCGCTGAGGTGG	0.632000													10	11					0	0	0.000442599	0	0
SLC2A10	81031	broad.mit.edu	37	20	45355600	45355600	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:45355600C>G	ENST00000359271.2	+	3	1636	c.1386C>G	c.(1384-1386)atC>atG	p.I462M		NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 10	462						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				ACCTCTTCATCAGCCTCTCCT	0.507000													21	63					0	0	0.00332997	0	0
TNRC6C	57690	broad.mit.edu	37	17	76046630	76046630	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:76046630C>T	ENST00000335749.4	+	3	2056	c.1487C>T	c.(1486-1488)tCc>tTc	p.S496F	TNRC6C_ENST00000588061.1_Missense_Mutation_p.S496F|TNRC6C_ENST00000301624.4_Missense_Mutation_p.S496F|TNRC6C_ENST00000544502.1_Missense_Mutation_p.S496F|TNRC6C_ENST00000541771.1_Missense_Mutation_p.S496F|TNRC6C_ENST00000588847.1_Missense_Mutation_p.S496F	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	496	Sufficient for interaction with argonaute family proteins.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			AACGATGGGTCCATCATGAAC	0.522000													8	47					0	0	0.000274275	0	0
F8	2157	broad.mit.edu	37	X	154157568	154157568	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:154157568G>A	ENST00000360256.4	-	14	4697	c.4497C>T	c.(4495-4497)ctC>ctT	p.L1499L		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1499	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	CTGGTTTCGGGAGAACAGTGT	0.443000													26	20					0	0	0.000878237	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18955932	18955932	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:18955932G>C	ENST00000302797.3	-	1	624	c.400C>G	c.(400-402)Cgc>Ggc	p.R134G	MRGPRX1_ENST00000526914.1_5'UTR	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	134					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TGTGTGGGGCGGTGGCAGCGG	0.607000													10	25					0	0	0.000978159	0	0
OR4C13	283092	broad.mit.edu	37	11	49974424	49974424	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:49974424C>T	ENST00000555099.1	+	1	482	c.450C>T	c.(448-450)ggC>ggT	p.G150G		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						GGGTAGGAGGCTTTCTTCATG	0.453000													7	36					0	0	0.00307968	0	0
CEP104	9731	broad.mit.edu	37	1	3755581	3755581	+	Missense_Mutation	SNP	G	G	A	rs139901107		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:3755581G>A	ENST00000378230.3	-	8	1162	c.838C>T	c.(838-840)Cgt>Tgt	p.R280C		NM_014704.3	NP_055519.1	O60308	CE104_HUMAN	centrosomal protein 104kDa	280						centriole	binding	p.R280C(1)		breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						ACCTCGGCACGATACTGCTCC	0.587000													14	64					0	0	0.00316338	0	0
CST11	140880	broad.mit.edu	37	20	23432524	23432524	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:23432524C>T	ENST00000377009.3	-	2	295	c.262G>A	c.(262-264)Gaa>Aaa	p.E88K	CST11_ENST00000377007.3_Intron	NM_130794.1	NP_570612.1	Q9H112	CST11_HUMAN	cystatin 11	88					defense response to bacterium	cytoplasm|nucleus	cysteine-type endopeptidase inhibitor activity			kidney(2)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	14	Colorectal(13;0.0431)|Lung NSC(19;0.235)					CACTGCATTTCCACATTCAGG	0.562000													17	51					0	0	0.000958276	0	0
TAF1L	138474	broad.mit.edu	37	9	32632772	32632772	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:32632772C>T	ENST00000242310.4	-	1	2895	c.2806G>A	c.(2806-2808)Gaa>Aaa	p.E936K		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	936					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TGGAAATCTTCCTCATTTTCT	0.463000													15	45					0	0	0.00074312	0	0
GNA12	2768	broad.mit.edu	37	7	2834666	2834666	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:2834666G>A	ENST00000275364.3	-	2	583	c.421C>T	c.(421-423)Cct>Tct	p.P141S	GNA12_ENST00000407904.3_Missense_Mutation_p.P82S|GNA12_ENST00000544127.1_Missense_Mutation_p.P65S	NM_007353.2	NP_031379.2	Q03113	GNA12_HUMAN	guanine nucleotide binding protein (G protein) alpha 12	141					G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|Rho protein signal transduction	brush border membrane|heterotrimeric G-protein complex	D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity			endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.02e-13)		GGCTCCACAGGCAGCCCCGCC	0.562000													21	123					0	0	0.00188189	0	0
MUC16	94025	broad.mit.edu	37	19	9066494	9066494	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:9066494G>A	ENST00000397910.4	-	3	21155	c.20952C>T	c.(20950-20952)tcC>tcT	p.S6984S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6986	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						CTTCTGTCCTGGAGACCTCAG	0.483000													6	45					0	0	0.00116845	0	0
DNAH11	8701	broad.mit.edu	37	7	21857953	21857953	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:21857953G>A	ENST00000328843.6	+	66	10739	c.10708G>A	c.(10708-10710)Gga>Aga	p.G3570R	DNAH11_ENST00000409508.3_Missense_Mutation_p.G3563R			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3570	AAA 5 (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						AATTAAAAAAGGAAAGTAAGT	0.353000									Kartagener syndrome				9	70					0	0	0.00136819	0	0
P2RY14	9934	broad.mit.edu	37	3	150931448	150931448	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:150931448C>T	ENST00000309170.3	-	3	969	c.657G>A	c.(655-657)aaG>aaA	p.K219K	MED12L_ENST00000474524.1_Intron|P2RY14_ENST00000424796.2_Silent_p.K219K|MED12L_ENST00000273432.4_Intron	NM_001081455.1|NM_014879.3	NP_001074924.1|NP_055694.3	Q15391	P2Y14_HUMAN	purinergic receptor P2Y, G-protein coupled, 14	219						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled|UDP-activated nucleotide receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)	20			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TCCGACTTGACTTAAGGTGGG	0.373000													7	45					0	0	0.00307968	0	0
CCDC67	159989	broad.mit.edu	37	11	93088705	93088705	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:93088705A>T	ENST00000298050.3	+	3	298	c.198A>T	c.(196-198)caA>caT	p.Q66H	CCDC67_ENST00000527307.1_Missense_Mutation_p.Q66H	NM_181645.3	NP_857596.2	Q05D60	CCD67_HUMAN	coiled-coil domain containing 67	66										endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				AGAAAGGTCAAGAGGTACTGA	0.338000													7	34					0	0	0.00198382	0	0
HERC2	8924	broad.mit.edu	37	15	28473473	28473473	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:28473473G>A	ENST00000261609.7	-	35	5463	c.5355C>T	c.(5353-5355)ttC>ttT	p.F1785F		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	1785					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)		TCACCAGGAGGAAGCGGGCTT	0.612000													7	12					0	0	0.00307968	0	0
VWF	7450	broad.mit.edu	37	12	6132876	6132876	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:6132876G>A	ENST00000261405.5	-	25	3554	c.3300C>T	c.(3298-3300)ttC>ttT	p.F1100F		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	1100					blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TGGTGTCGCAGAAGCAGGCGC	0.602000													6	17					0	0	0.00116845	0	0
RPAP1	26015	broad.mit.edu	37	15	41816304	41816304	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:41816304C>T	ENST00000304330.4	-	16	2340	c.2224G>A	c.(2224-2226)Gaa>Aaa	p.E742K	RPAP1_ENST00000561603.1_Missense_Mutation_p.E742K	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	742						nucleus	DNA binding|DNA-directed RNA polymerase activity			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		CTGATGGTTTCAGCAGGGGTA	0.622000													9	27					0	0	0.000442599	0	0
MUC16	94025	broad.mit.edu	37	19	9049400	9049400	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:9049400G>A	ENST00000397910.4	-	5	32434	c.32231C>T	c.(32230-32232)tCt>tTt	p.S10744F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10746	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						GTCTGTCCCAGAACTAGTGAC	0.468000													5	77					0	0	0.000602214	0	0
SNX13	23161	broad.mit.edu	37	7	17915119	17915119	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:17915119G>A	ENST00000409389.1	-	7	820	c.648C>T	c.(646-648)tcC>tcT	p.S216S	SNX13_ENST00000428135.3_Silent_p.S216S			Q9Y5W8	SNX13_HUMAN	sorting nexin 13	216	PXA.				cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity	early endosome membrane	phosphatidylinositol binding|signal transducer activity			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					CATCTTTGGGGGAAGTGCACA	0.363000													12	73					0	0	0.00185496	0	0
MYH15	22989	broad.mit.edu	37	3	108107918	108107918	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:108107918G>A	ENST00000273353.3	-	39	5550	c.5494C>T	c.(5494-5496)Cgt>Tgt	p.R1832C		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1832						myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	p.R1832S(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TCCAGTTCACGAACCTGCAAC	0.517000													5	32					0	0	0.00116845	0	0
TRPM8	79054	broad.mit.edu	37	2	234869676	234869676	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:234869676G>A	ENST00000324695.4	+	12	1659	c.1619G>A	c.(1618-1620)aGa>aAa	p.R540K	TRPM8_ENST00000433712.2_Missense_Mutation_p.R228K	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	540						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	AAGGAAGACAGAAATGGCCGG	0.493000													4	15					0	0	0.000602214	0	0
USP31	57478	broad.mit.edu	37	16	23080496	23080496	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:23080496G>A	ENST00000219689.7	-	16	2929	c.2930C>T	c.(2929-2931)cCc>cTc	p.P977L	USP31_ENST00000567975.1_Missense_Mutation_p.P270L	NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	977	Ser-rich.				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			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)		AGAGAGCGGGGGCAGGCGGTC	0.522000													14	59					0	0	0.00400662	0	0
GTF2H3	2967	broad.mit.edu	37	12	124123845	124123845	+	Silent	SNP	T	T	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:124123845T>C	ENST00000543341.2	+	2	79	c.48T>C	c.(46-48)gaT>gaC	p.D16D	GTF2H3_ENST00000228955.7_Intron	NM_001271867.1|NM_001516.3	NP_001258796.1|NP_001507.2	Q13889	TF2H3_HUMAN	general transcription factor IIH, polypeptide 3, 34kDa	16					mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	core TFIIH complex|holo TFIIH complex	damaged DNA binding|metal ion binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|translation factor activity, nucleic acid binding			breast(2)|endometrium(1)|large_intestine(4)|lung(2)|urinary_tract(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.1e-05)|Epithelial(86;0.000388)|all cancers(50;0.00362)		TTGTAGTTGATGCCAACCCAA	0.333000								Nucleotide excision repair (NER)					17	44					0	0	0.00188189	0	0
GPRC5C	55890	broad.mit.edu	37	17	72436806	72436806	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:72436806C>T	ENST00000392627.1	+	2	2152	c.1026C>T	c.(1024-1026)atC>atT	p.I342I	GPRC5C_ENST00000342648.5_Intron|GPRC5C_ENST00000481232.1_Intron|GPRC5C_ENST00000392629.2_Silent_p.I309I	NM_022036.2	NP_071319.2	Q9NQ84	GPC5C_HUMAN	G protein-coupled receptor, family C, group 5, member C	297						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						TCTACGTCATCCCCGAGGTCT	0.627000													13	11					0	0	0.00244969	0	0
SCAPER	49855	broad.mit.edu	37	15	76646476	76646476	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:76646476G>A	ENST00000538941.2	-	30	4062	c.3123C>T	c.(3121-3123)atC>atT	p.I1041I	SCAPER_ENST00000324767.7_Silent_p.I1287I|SCAPER_ENST00000563290.1_Silent_p.I1287I	NM_001145923.1	NP_001139395.1	Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	1286						endoplasmic reticulum|nucleus	zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						CGGACTGCACGATCACCTGAA	0.582000													6	56					0	0	0.00198382	0	0
CYFIP2	26999	broad.mit.edu	37	5	156746781	156746781	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:156746781G>A	ENST00000347377.6	+	14	1799	c.1368G>A	c.(1366-1368)atG>atA	p.M456I	CYFIP2_ENST00000521420.1_Missense_Mutation_p.M430I|CYFIP2_ENST00000318218.6_Missense_Mutation_p.M456I|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000377576.3_Missense_Mutation_p.M456I|CYFIP2_ENST00000435847.2_Missense_Mutation_p.M130I|CYFIP2_ENST00000522463.1_Missense_Mutation_p.M260I|CYFIP2_ENST00000541131.1_Missense_Mutation_p.M381I	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	456					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGATCGCCATGATCAAAGGCC	0.607000													31	77					0	0	0.00178596	0	0
VWA7	80737	broad.mit.edu	37	6	31735472	31735472	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:31735472C>T	ENST00000375686.3	-	11	1800	c.1563G>A	c.(1561-1563)gtG>gtA	p.V521V	VWA7_ENST00000467576.1_5'UTR|VWA7_ENST00000375688.4_Silent_p.V521V|VWA7_ENST00000447450.1_Silent_p.V521V	NM_025258.2	NP_079534.2	Q9Y334	G7C_HUMAN	von Willebrand factor A domain containing 7	521						extracellular region											GCAGCCCATCCACGCTGAACA	0.557000													35	225					0	0	0.00111076	0	0
LRP1B	53353	broad.mit.edu	37	2	141771293	141771293	+	Silent	SNP	A	A	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:141771293A>G	ENST00000389484.3	-	14	3183	c.2212T>C	c.(2212-2214)Ttg>Ctg	p.L738L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	738					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)		GGGTGGTTCAACTCTCTCCCA	0.338000										TSP Lung(27;0.18)			7	30					0	0	0.000274275	0	0
CACNB2	783	broad.mit.edu	37	10	18789875	18789875	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:18789875C>T	ENST00000396576.2	+	4	927	c.426C>T	c.(424-426)tcC>tcT	p.S142S	CACNB2_ENST00000377319.3_Silent_p.S142S|CACNB2_ENST00000352115.6_Silent_p.S197S|CACNB2_ENST00000377329.4_Silent_p.S143S|CACNB2_ENST00000324631.7_Silent_p.S197S|CACNB2_ENST00000377328.1_Intron|CACNB2_ENST00000377315.4_Silent_p.S149S|CACNB2_ENST00000282343.8_Silent_p.S169S|CACNB2_ENST00000377331.2_Silent_p.S169S	NM_000724.3	NP_000715.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	197	SH3.				axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	AATTCTACTCCAGGTATGAGA	0.388000													5	17					0	0	0.00116845	0	0
PDIA5	10954	broad.mit.edu	37	3	122849352	122849352	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:122849352C>T	ENST00000316218.7	+	11	894	c.799C>T	c.(799-801)Cct>Tct	p.P267S		NM_006810.3	NP_006801.1	Q14554	PDIA5_HUMAN	protein disulfide isomerase family A, member 5	267					cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress	endoplasmic reticulum lumen	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21				GBM - Glioblastoma multiforme(114;0.0427)		GCCCCAGGTCCCTGAGACTCC	0.592000													6	23					0	0	0.00116845	0	0
PIK3AP1	118788	broad.mit.edu	37	10	98388183	98388183	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:98388183C>T	ENST00000339364.5	-	9	1562	c.1443G>A	c.(1441-1443)aaG>aaA	p.K481K	PIK3AP1_ENST00000371110.2_Silent_p.K303K|PIK3AP1_ENST00000468783.1_5'UTR|PIK3AP1_ENST00000371109.3_Silent_p.K80K	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	481						cytoplasm|plasma membrane				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		TCATAGAGTCCTTAGTGGCCC	0.423000													28	64					0	0	0.00327116	0	0
ZFP42	132625	broad.mit.edu	37	4	188924305	188924305	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:188924305C>T	ENST00000326866.4	+	4	752	c.344C>T	c.(343-345)tCc>tTc	p.S115F	ZFP42_ENST00000509524.1_Missense_Mutation_p.S115F	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	115					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		GAAGCAAGCTCCCTTGAATGT	0.398000													14	49					0	0	0.00244969	0	0
OR8B8	26493	broad.mit.edu	37	11	124310360	124310360	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:124310360C>T	ENST00000328064.2	-	1	694	c.622G>A	c.(622-624)Ggt>Agt	p.G208S		NM_012378.1	NP_036510.1	Q15620	OR8B8_HUMAN	olfactory receptor, family 8, subfamily B, member 8	208					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		GTGGGCACACCAATATCAATG	0.488000													9	54					0	0	0.000274275	0	0
TMC2	117532	broad.mit.edu	37	20	2572993	2572993	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:2572993A>G	ENST00000358864.1	+	8	887	c.872A>G	c.(871-873)aAg>aGg	p.K291R		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	291						integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						ATTCCCAGAAAGACAGTGCCT	0.438000													20	94					0	0	0.00278032	0	0
ST3GAL1	6482	broad.mit.edu	37	8	134477115	134477115	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:134477115C>T	ENST00000319914.5	-	6	1616	c.589G>A	c.(589-591)Gag>Aag	p.E197K	ST3GAL1_ENST00000522652.1_Missense_Mutation_p.E197K|ST3GAL1_ENST00000521180.1_Missense_Mutation_p.E197K|ST3GAL1_ENST00000399640.2_Missense_Mutation_p.E197K			Q11201	SIA4A_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 1	197					protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity			endometrium(3)|large_intestine(2)|lung(11)|prostate(1)	17	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.00721)			TCTCCCAGCTCCCGGAAGCTC	0.582000													16	94					0	0	0.00121646	0	0
IGSF3	3321	broad.mit.edu	37	1	117127336	117127336	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:117127336G>A	ENST00000369486.3	-	9	3544	c.2779C>T	c.(2779-2781)Ccc>Tcc	p.P927S	IGSF3_ENST00000318837.6_Missense_Mutation_p.P947S|IGSF3_ENST00000369483.1_Missense_Mutation_p.P947S	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	927	Ig-like C2-type 7.					integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		ATGCCACTGGGGCTGGGCAGC	0.632000													7	13					0	0	0.00198382	0	0
BAG3	9531	broad.mit.edu	37	10	121432051	121432051	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:121432051C>T	ENST00000369085.3	+	3	1098	c.792C>T	c.(790-792)tcC>tcT	p.S264S		NM_004281.3	NP_004272.2	O95817	BAG3_HUMAN	BCL2-associated athanogene 3	264					anti-apoptosis|apoptosis|protein folding	cytosol				endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(5)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	20		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148)		GGGCGGCATCCCCGTTCAGGT	0.687000													4	13					0	0	0.000602214	0	0
OR2G6	391211	broad.mit.edu	37	1	248685473	248685473	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:248685473C>T	ENST00000343414.4	+	1	558	c.526C>T	c.(526-528)Cat>Tat	p.H176Y		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	176					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CACACTGGATCATATTTTCTG	0.532000													11	32					0	0	0.000978159	0	0
SPANXN2	494119	broad.mit.edu	37	X	142795215	142795215	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:142795215C>T	ENST00000370498.1	-	2	1216	c.463G>A	c.(463-465)Gac>Aac	p.D155N		NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN	SPANX family, member N2	155										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TCAGGTGGGTCCAGGTCTTCG	0.512000													46	147					0	0	0.00361006	0	0
UBQLNL	143630	broad.mit.edu	37	11	5536697	5536697	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:5536697C>T	ENST00000380184.1	-	1	1238	c.975G>A	c.(973-975)caG>caA	p.Q325Q	HBG2_ENST00000380259.2_Intron	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	325										endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		TTGCAGGATGCTGTGTGAGCT	0.507000													18	26					0	0	0.00074312	0	0
DNAH3	55567	broad.mit.edu	37	16	20975073	20975073	+	Missense_Mutation	SNP	G	G	A	rs150659278		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:20975073G>A	ENST00000261383.3	-	53	10132	c.10133C>T	c.(10132-10134)aCc>aTc	p.T3378I	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3378					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)		GATGCCGATGGTCAGGAGGAG	0.493000													17	50					0	0	0.00074312	0	0
CEACAM1	634	broad.mit.edu	37	19	43023216	43023216	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:43023216C>T	ENST00000161559.6	-	5	1264	c.1130G>A	c.(1129-1131)gGc>gAc	p.G377D	LIPE-AS1_ENST00000594624.2_RNA|CEACAM1_ENST00000403461.1_Intron|LIPE-AS1_ENST00000457234.2_RNA|CEACAM1_ENST00000351134.3_Intron|CEACAM1_ENST00000403444.3_Missense_Mutation_p.G377D|CEACAM1_ENST00000358394.3_Intron|CEACAM1_ENST00000352591.5_Intron|CEACAM1_ENST00000308072.4_Intron|CEACAM1_ENST00000599389.1_Intron|LIPE-AS1_ENST00000594688.1_RNA	NM_001712.4	NP_001703.2	P13688	CEAM1_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein)	377	Ig-like C2-type 3.				angiogenesis|cell migration|homophilic cell adhesion|integrin-mediated signaling pathway	extracellular region|integral to plasma membrane|membrane fraction				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	17		Prostate(69;0.00682)		GBM - Glioblastoma multiforme(486;0.00148)	Arcitumomab(DB00113)	GGTGGTGTTGCCCTGGGACAG	0.527000													11	44					0	0	0.000978159	0	0
OR11G2	390439	broad.mit.edu	37	14	20665543	20665543	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:20665543C>T	ENST00000357366.3	+	1	49	c.49C>T	c.(49-51)Cta>Tta	p.L17L		NM_001005503.1	NP_001005503.1	Q8NGC1	O11G2_HUMAN	olfactory receptor, family 11, subfamily G, member 2	17					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		GATTCCCCATCTATGTTTGCA	0.343000													6	10					0	0	0.000442599	0	0
STMN4	81551	broad.mit.edu	37	8	27098664	27098664	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:27098664C>T	ENST00000350889.4	-	5	419	c.306G>A	c.(304-306)ggG>ggA	p.G102G	STMN4_ENST00000523048.1_Silent_p.G102G|STMN4_ENST00000519614.1_Silent_p.G75G|STMN4_ENST00000519997.1_Silent_p.G66G|STMN4_ENST00000265770.7_Silent_p.G75G|STMN4_ENST00000522908.1_Silent_p.G102G	NM_030795.2	NP_110422.2	Q9H169	STMN4_HUMAN	stathmin-like 4	75					intracellular signal transduction					endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)	11		Ovarian(32;0.00167)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0214)|Epithelial(17;9.82e-10)|Colorectal(74;0.142)		ACTCGGGAACCCCATCAAAGG	0.537000													12	55					0	0	0.00400662	0	0
EMILIN2	84034	broad.mit.edu	37	18	2885025	2885025	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:2885025G>A	ENST00000254528.3	+	3	480	c.321G>A	c.(319-321)tgG>tgA	p.W107*		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	107	EMI.				cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		AGTTGGAATGGAGGTGCTGTC	0.537000													16	56					0	0	0.00074312	0	0
SIM2	6493	broad.mit.edu	37	21	38095380	38095380	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr21:38095380G>A	ENST00000290399.6	+	5	1105	c.492G>A	c.(490-492)atG>atA	p.M164I	SIM2_ENST00000430056.3_Missense_Mutation_p.M164I	NM_005069.3	NP_005060.1	Q14190	SIM2_HUMAN	single-minded family bHLH transcription factor 2	164					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						TTCTTCGAATGAAATGTGTCT	0.547000													18	43					0	0	0.00395357	0	0
TMEM45B	120224	broad.mit.edu	37	11	129725636	129725636	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:129725636C>T	ENST00000281441.3	+	4	507	c.419C>T	c.(418-420)cCt>cTt	p.P140L	TMEM45B_ENST00000524567.1_Missense_Mutation_p.P140L	NM_138788.3	NP_620143.1	Q96B21	TM45B_HUMAN	transmembrane protein 45B	140						integral to membrane				endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.012)|Lung(977;0.179)|LUSC - Lung squamous cell carcinoma(976;0.189)		CACAACCGGCCTCCGCTGGAC	0.552000													6	61					0	0	0.00198382	0	0
ARHGAP19-SLIT1	100533184	broad.mit.edu	37	10	98819289	98819289	+	Splice_Site	SNP	C	C	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:98819289C>G	ENST00000453547.2	-	21	2290		c.e21-1		SLIT1_ENST00000266058.4_Splice_Site|SLIT1_ENST00000371041.3_Splice_Site|SLIT1_ENST00000371070.4_Splice_Site																							GCTCAGGTCTCTGCAAGGTGA	0.597000													10	12					0	0	0.000673444	0	0
RELN	5649	broad.mit.edu	37	7	103126752	103126752	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:103126752C>T	ENST00000428762.1	-	61	10034	c.9875G>A	c.(9874-9876)gGa>gAa	p.G3292E	RELN_ENST00000424685.2_Missense_Mutation_p.G3292E|CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000343529.5_Missense_Mutation_p.G3292E	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	3292					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ACAGCCACTTCCTATGACTCC	0.502000													18	88					0	0	0.00188189	0	0
LRP6	4040	broad.mit.edu	37	12	12339863	12339863	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:12339863G>A	ENST00000261349.4	-	4	914	c.838C>T	c.(838-840)Cca>Tca	p.P280S	LRP6_ENST00000543091.1_Missense_Mutation_p.P280S	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	280					cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				TTACCATTTGGCTGCCTCTGT	0.448000													87	136					0	0	0.00361006	0	0
HYAL4	23553	broad.mit.edu	37	7	123509188	123509188	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:123509188G>A	ENST00000223026.4	+	3	1499	c.861G>A	c.(859-861)agG>agA	p.R287R	HYAL4_ENST00000476325.1_Silent_p.R287R	NM_012269.2	NP_036401.2	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	287					fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						AATCCATGAGGATCTCCACCA	0.423000													8	61					0	0	0.00307968	0	0
OSBPL6	114880	broad.mit.edu	37	2	179214032	179214032	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:179214032C>T	ENST00000190611.4	+	12	1445	c.1069C>T	c.(1069-1071)Ccc>Tcc	p.P357S	OSBPL6_ENST00000409631.1_Missense_Mutation_p.P357S|OSBPL6_ENST00000392505.2_Missense_Mutation_p.P382S|OSBPL6_ENST00000359685.3_Missense_Mutation_p.P357S|OSBPL6_ENST00000357080.4_Missense_Mutation_p.P326S|OSBPL6_ENST00000409045.3_Missense_Mutation_p.P326S|OSBPL6_ENST00000315022.2_Missense_Mutation_p.P361S	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	357					lipid transport		lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			ATTTCAGACTCCCCCTAGCCA	0.428000													47	66					0	0	0.00361006	0	0
ANO4	121601	broad.mit.edu	37	12	101480470	101480470	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:101480470C>T	ENST00000392979.3	+	16	1825	c.1464C>T	c.(1462-1464)atC>atT	p.I488I	ANO4_ENST00000392977.3_Silent_p.I523I|ANO4_ENST00000299222.9_Silent_p.I43I|ANO4_ENST00000550015.1_Silent_p.I43I	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	523						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						TGTTCGGGATCGTCATTTACC	0.517000										HNSCC(74;0.22)			15	55					0	0	0.00400662	0	0
ZFHX4	79776	broad.mit.edu	37	8	77768515	77768515	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:77768515G>A	ENST00000521891.2	+	10	9806	c.9358G>A	c.(9358-9360)Gga>Aga	p.G3120R	ZFHX4_ENST00000518282.1_Missense_Mutation_p.G3094R|ZFHX4_ENST00000050961.6_Missense_Mutation_p.G3075R|ZFHX4_ENST00000455469.2_Missense_Mutation_p.G3075R	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3075	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CTCCTTGCCGGGATTTCCACA	0.512000										HNSCC(33;0.089)			13	18					0	0	0.00136819	0	0
ASB2	51676	broad.mit.edu	37	14	94420665	94420665	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:94420665C>T	ENST00000555019.1	-	4	906	c.476G>A	c.(475-477)cGa>cAa	p.R159Q	ASB2_ENST00000556337.1_Intron|ASB2_ENST00000315988.4_Missense_Mutation_p.R111Q	NM_001202429.1	NP_001189358.1	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box containing 2	111					intracellular signal transduction			p.R111Q(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		GCCCTCACCTCGCTGCAGGAC	0.612000													8	25					0	0	0.000442599	0	0
MYO7B	4648	broad.mit.edu	37	2	128346114	128346114	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:128346114G>A	ENST00000389524.4	+	15	1891	c.1838G>A	c.(1837-1839)gGa>gAa	p.G613E	MYO7B_ENST00000409816.2_Missense_Mutation_p.G613E|MYO7B_ENST00000428314.1_Missense_Mutation_p.G613E			Q6PIF6	MYO7B_HUMAN	myosin VIIB	613	Myosin head-like.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GCAAAGGCAGGAAACCATCTC	0.527000													14	38					0	0	0.00074312	0	0
TNFAIP8	25816	broad.mit.edu	37	5	118728890	118728890	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:118728890G>A	ENST00000504771.2	+	2	2188	c.411G>A	c.(409-411)gaG>gaA	p.E137E	TNFAIP8_ENST00000504642.1_Silent_p.E139E|TNFAIP8_ENST00000415806.2_3'UTR|TNFAIP8_ENST00000513374.1_Silent_p.E149E|TNFAIP8_ENST00000274456.6_Silent_p.E127E|TNFAIP8_ENST00000503646.1_Silent_p.E137E	NM_014350.2	NP_055165.2	O95379	TFIP8_HUMAN	tumor necrosis factor, alpha-induced protein 8	137					anti-apoptosis|apoptosis|negative regulation of anti-apoptosis	cytoplasm	caspase inhibitor activity|protein binding			ovary(1)	1		all_cancers(142;0.0317)|Prostate(80;0.111)|Breast(839;0.231)		Epithelial(69;4.63e-83)|OV - Ovarian serous cystadenocarcinoma(64;1.39e-82)|all cancers(49;4.88e-75)|GBM - Glioblastoma multiforme(465;0.00338)|BRCA - Breast invasive adenocarcinoma(61;0.0148)|COAD - Colon adenocarcinoma(49;0.0829)		AATGCAGAGAGATGCTGCACC	0.433000													16	63					0	0	0.00188189	0	0
GATA4	2626	broad.mit.edu	37	8	11612605	11612605	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:11612605G>A	ENST00000335135.4	+	5	1518	c.960G>A	c.(958-960)cgG>cgA	p.R320R	GATA4_ENST00000528712.1_Silent_p.R114R|GATA4_ENST00000532059.1_Silent_p.R321R	NM_002052.3	NP_002043.2	P43694	GATA4_HUMAN	GATA binding protein 4	320					atrial septum primum morphogenesis|atrial septum secundum morphogenesis|blood coagulation|cardiac right ventricle morphogenesis|cell-cell signaling|embryonic foregut morphogenesis|embryonic heart tube anterior/posterior pattern formation|endocardial cushion development|endoderm development|heart looping|intestinal epithelial cell differentiation|male gonad development|positive regulation of angiogenesis|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|response to drug|transcription from RNA polymerase II promoter|ventricular septum development	nucleoplasm	activating transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(10)	13	all_epithelial(15;0.0839)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.199)		CCAGAAAACGGAAGCCCAAGA	0.463000													10	40					0	0	0.00185496	0	0
GPR116	221395	broad.mit.edu	37	6	46852000	46852000	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:46852000G>A	ENST00000283296.7	-	5	625	c.337C>T	c.(337-339)Cct>Tct	p.P113S	GPR116_ENST00000456426.2_Missense_Mutation_p.P113S|GPR116_ENST00000362015.4_Missense_Mutation_p.P113S|GPR116_ENST00000265417.7_Missense_Mutation_p.P113S	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	113					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			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)			TTTCCAGCAGGTCTGCAGACT	0.463000													14	51					0	0	0.00316338	0	0
FBXO46	23403	broad.mit.edu	37	19	46215700	46215700	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:46215700G>A	ENST00000317683.3	-	2	1187	c.1054C>T	c.(1054-1056)Cct>Tct	p.P352S		NM_001080469.1	NP_001073938.1	Q6PJ61	FBX46_HUMAN	F-box protein 46	352							protein binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		GGGGGCGGAGGGGGCGCCGGG	0.697000													4	8					0	0	0.00116845	0	0
TP53	7157	broad.mit.edu	37	17	7578502	7578502	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:7578502A>T	ENST00000420246.2	-	5	560	c.428T>A	c.(427-429)gTg>gAg	p.V143E	TP53_ENST00000359597.4_Missense_Mutation_p.V143E|TP53_ENST00000269305.4_Missense_Mutation_p.V143E|TP53_ENST00000455263.2_Missense_Mutation_p.V143E|TP53_ENST00000445888.2_Missense_Mutation_p.V143E|TP53_ENST00000413465.2_Missense_Mutation_p.V143E	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	143	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		V -> A (in sporadic cancers; somatic mutation; strong DNA binding ability at 32.5 degrees Celsius; strong reduction of transcriptional activity at 37.5 degrees Celsius).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.V143A(18)|p.0?(8)|p.V143E(5)|p.V11A(2)|p.V50A(2)|p.L137_W146del10(1)|p.P142_Q144delPVQ(1)|p.K139fs*4(1)|p.A138_V143delAKTCPV(1)|p.V143G(1)|p.V143_S149del(1)|p.C141fs*5(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CCACAGCTGCACAGGGCAGGT	0.587000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			25	10					0	0	0.000878237	0	0
KIAA1804	84451	broad.mit.edu	37	1	233514709	233514709	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:233514709G>A	ENST00000366624.3	+	9	2218	c.1957G>A	c.(1957-1959)Gga>Aga	p.G653R	MLK4_ENST00000366622.1_Missense_Mutation_p.G99R	NM_032435.2	NP_115811.2																					TTCCCCTGATGGATTAGAACA	0.378000													11	72					0	0	0.000978159	0	0
ITGB8	3696	broad.mit.edu	37	7	20406638	20406638	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:20406638T>C	ENST00000222573.3	+	3	901	c.217T>C	c.(217-219)Ttc>Ctc	p.F73L	ITGB8_ENST00000537992.1_5'UTR	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	73					cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						TAAACAGGATTTCATTTCAGG	0.303000													56	42					0	0	0.00361006	0	0
SMURF2	64750	broad.mit.edu	37	17	62579637	62579637	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:62579637C>T	ENST00000262435.9	-	7	698	c.511G>A	c.(511-513)Gga>Aga	p.G171R	SMURF2_ENST00000578200.1_Intron	NM_022739.3	NP_073576.1	Q9HAU4	SMUF2_HUMAN	SMAD specific E3 ubiquitin protein ligase 2	171	WW 1.				BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|membrane raft|nucleus|plasma membrane|ubiquitin ligase complex	identical protein binding|SMAD binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4)	22	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;9.88e-12)			TGGATTCTTCCAGAGGCGGTT	0.408000													5	52					0	0	0.000602214	0	0
IGHV2-26	28455	broad.mit.edu	37	14	106757778	106757778	+	RNA	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:106757778C>T	ENST00000390611.2	-	0	252																											TAGGATTTTTCGTCATTCGAA	0.532000													7	27					0	0	0.00198382	0	0
MAP1B	4131	broad.mit.edu	37	5	71493356	71493356	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:71493356G>A	ENST00000296755.7	+	5	4472	c.4174G>A	c.(4174-4176)Gaa>Aaa	p.E1392K		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1392						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		GTCTCCTATTGAAAAAGTTTT	0.478000													10	38					0	0	0.000442599	0	0
PTPN11	5781	broad.mit.edu	37	12	112888197	112888197	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:112888197T>A	ENST00000351677.2	+	3	411	c.213T>A	c.(211-213)ttT>ttA	p.F71L	PTPN11_ENST00000392597.1_Missense_Mutation_p.F71L	NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	71	SH2 1.		F -> K (in acute myeloid leukemia; requires 2 nucleotide substitutions).|F -> L (in myelodysplastic syndrome).		axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding	p.F71L(5)|p.F71K(1)		NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						GGGAGAAATTTGCCACTTTGG	0.418000			Mis		"""JMML, AML, MDS"""		Noonan Syndrome		Noonan syndrome				20	75					0	0	0.00152264	0	0
HM13	81502	broad.mit.edu	37	20	30125987	30125987	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:30125987C>T	ENST00000335574.5	+	3	412	c.288C>T	c.(286-288)ttC>ttT	p.F96F	HM13_ENST00000398174.3_Silent_p.F96F|HM13_ENST00000376127.3_Silent_p.F96F|HM13_ENST00000340852.5_Silent_p.F96F	NM_178580.1	NP_848695.1	Q8TCT9	HM13_HUMAN	histocompatibility (minor) 13	96					membrane protein proteolysis	cell surface|endoplasmic reticulum membrane|integral to membrane|plasma membrane	aspartic-type endopeptidase activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(5;3.44e-05)|Lung NSC(7;4.38e-06)|all_lung(7;7.65e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		all cancers(5;0.000479)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)			CTCAGATATTCTCCCAGGAGT	0.517000													6	53					0	0	0.000274275	0	0
NEU1	4758	broad.mit.edu	37	6	31827673	31827673	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:31827673C>T	ENST00000375631.4	-	6	1200	c.1071G>A	c.(1069-1071)cgG>cgA	p.R357R		NM_000434.3	NP_000425.1	Q99519	NEUR1_HUMAN	sialidase 1 (lysosomal sialidase)	357						cytoplasmic membrane-bounded vesicle|lysosomal lumen|lysosomal membrane|plasma membrane	exo-alpha-sialidase activity|protein binding			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10					Oseltamivir(DB00198)|Zanamivir(DB00558)	CTGTCTCTTTCCGCCATGAGG	0.617000													46	311					0	0	0.00361006	0	0
GID8	54994	broad.mit.edu	37	20	61576133	61576133	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:61576133C>T	ENST00000266069.3	+	5	703	c.556C>T	c.(556-558)Cgc>Tgc	p.R186C		NM_017896.2	NP_060366.1			GID complex subunit 8																		TTATGAAAATCGCGAGTCAAC	0.413000													18	36					0	0	0.000958276	0	0
CYLC1	1538	broad.mit.edu	37	X	83128355	83128355	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:83128355C>T	ENST00000329312.4	+	4	676	c.639C>T	c.(637-639)ttC>ttT	p.F213F		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	213					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						ACACTGAATTCCTACATACAA	0.303000													11	6					0	0	0.00136819	0	0
ADARB2	105	broad.mit.edu	37	10	1284256	1284256	+	Silent	SNP	C	C	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:1284256C>G	ENST00000381312.1	-	5	1624	c.1299G>C	c.(1297-1299)gcG>gcC	p.A433A		NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	433	A to I editase.				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		CCACGACCTCCGCGTGGCAGT	0.692000													3	9					0	0	6.4e-05	0	0
ARID1B	57492	broad.mit.edu	37	6	157505554	157505554	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:157505554C>T	ENST00000346085.5	+	13	3536	c.3535C>T	c.(3535-3537)Cag>Tag	p.Q1179*	ARID1B_ENST00000275248.4_Nonsense_Mutation_p.Q1161*|ARID1B_ENST00000367148.1_Nonsense_Mutation_p.Q1219*|ARID1B_ENST00000350026.5_Nonsense_Mutation_p.Q1166*	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1166					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GCCCAAGCTCCAGCCGCCATC	0.617000													6	14					0	0	0.00307968	0	0
ESRRB	2103	broad.mit.edu	37	14	76965187	76965187	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:76965187C>T	ENST00000261532.7	+	8	1487	c.1415C>T	c.(1414-1416)cCa>cTa	p.P472L	ESRRB_ENST00000509242.1_Intron|ESRRB_ENST00000380887.2_Intron|RP11-187O7.3_ENST00000554926.1_lincRNA			A2VDJ2	A2VDJ2_HUMAN	estrogen-related receptor beta	0						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		CCCCCTCCCCCATCTGTGGCC	0.602000													4	10					0	0	0.00024832	0	0
TRBV27	28560	broad.mit.edu	37	7	142423617	142423617	+	RNA	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:142423617G>A	ENST00000506718.1	+	0	625				TRBV27_ENST00000390399.3_RNA																							AAGAGAAGAGGAATTTCCCCC	0.512000													5	22					0	0	0.00116845	0	0
CAGE1	285782	broad.mit.edu	37	6	7373626	7373626	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:7373626C>T	ENST00000502583.1	-	5	1990	c.1426G>A	c.(1426-1428)Gaa>Aaa	p.E476K	CAGE1_ENST00000379918.4_Missense_Mutation_p.E476K|CAGE1_ENST00000512086.1_Missense_Mutation_p.E476K|CAGE1_ENST00000296742.7_Missense_Mutation_p.E340K|CAGE1_ENST00000338150.4_Missense_Mutation_p.E476K	NM_001170692.1	NP_001164163.1	Q8TC20	CAGE1_HUMAN	cancer antigen 1	476										breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1)	19	Ovarian(93;0.0418)					GCCTCTTTTTCCCGTTTCAAC	0.398000													12	94					0	0	0.000978159	0	0
SYN3	8224	broad.mit.edu	37	22	32937673	32937673	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr22:32937673G>A	ENST00000358763.2	-	8	1043	c.801C>T	c.(799-801)ttC>ttT	p.F267F	SYN3_ENST00000332840.5_Silent_p.F267F	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III	267	C; actin-binding and synaptic-vesicle binding.				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						TGATGTCCTGGAAGTCAAGCT	0.557000													6	29					0	0	0.00116845	0	0
TRAV23DV6	28660	broad.mit.edu	37	14	22554751	22554751	+	RNA	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:22554751C>T	ENST00000390451.2	+	0	68																											TTAGGAGCATCATTTTTAGTT	0.443000													6	14					0	0	0.00116845	0	0
OR2M2	391194	broad.mit.edu	37	1	248343831	248343831	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:248343831C>T	ENST00000359682.2	+	1	544	c.544C>T	c.(544-546)Cct>Tct	p.P182S		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CTGTGAATTCCCTTCCCTACT	0.418000													18	101					0	0	0.00152264	0	0
NPHS1	4868	broad.mit.edu	37	19	36339028	36339028	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:36339028C>T	ENST00000378910.5	-	11	1354	c.1355G>A	c.(1354-1356)gGc>gAc	p.G452D	NPHS1_ENST00000353632.6_Missense_Mutation_p.G452D	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	452	Ig-like C2-type 5.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	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)			GAGCTTCTGGCCCTCTGGGGG	0.627000													14	32					0	0	0.000566183	0	0
SPATA31A6	389730	broad.mit.edu	37	9	43627092	43627092	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:43627092G>A	ENST00000332857.6	-	4	1623	c.1595C>T	c.(1594-1596)tCc>tTc	p.S532F		NM_001145196.1	NP_001138668.1			SPATA31 subfamily A, member 6																		TTCAGGTAGGGAGAGAGCTTG	0.473000													54	109					0	0	0.00361006	0	0
HCRTR2	3062	broad.mit.edu	37	6	55113544	55113544	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:55113544A>T	ENST00000370862.3	+	2	667	c.331A>T	c.(331-333)Aca>Tca	p.T111S		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	111					feeding behavior	integral to plasma membrane	neuropeptide receptor activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CCTTCCAGCCACACTGGTCGT	0.453000													15	99					0	0	0.00400662	0	0
RTCB	51493	broad.mit.edu	37	22	32784016	32784016	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr22:32784016G>A	ENST00000216038.5	-	12	1579	c.1481C>T	c.(1480-1482)gCc>gTc	p.A494V	RTCB_ENST00000451746.2_3'UTR	NM_014306.4	NP_055121.1			RNA 2',3'-cyclic phosphate and 5'-OH ligase																		CAGTTTAATGGCTTTCTTGCT	0.458000													14	51					0	0	0.00316338	0	0
MAGEB16	139604	broad.mit.edu	37	X	35821024	35821024	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:35821024G>A	ENST00000399989.1	+	2	990	c.711G>A	c.(709-711)ggG>ggA	p.G237G	MAGEB16_ENST00000399987.1_Silent_p.G237G|MAGEB16_ENST00000399988.1_Silent_p.G237G|MAGEB16_ENST00000399985.1_Silent_p.G237G|MAGEB16_ENST00000399992.1_Silent_p.G269G	NM_001099921.1	NP_001093391.1	A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	237	MAGE.									breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						TATATTCTGGGAAGAAGCACT	0.493000													7	15					0	0	0.00198382	0	0
MPP6	51678	broad.mit.edu	37	7	24689321	24689321	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:24689321C>T	ENST00000396475.2	+	5	660	c.361C>T	c.(361-363)Cag>Tag	p.Q121*	MPP6_ENST00000409761.1_Nonsense_Mutation_p.Q9*|MPP6_ENST00000222644.4_Nonsense_Mutation_p.Q121*	NM_016447.2	NP_057531.2	Q9NZW5	MPP6_HUMAN	membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)	121					protein complex assembly		protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						TATCAATAATCAGTTATTACC	0.383000													14	100					0	0	0.00244969	0	0
SELP	6403	broad.mit.edu	37	1	169565292	169565292	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:169565292G>A	ENST00000263686.6	-	12	2009	c.1972C>T	c.(1972-1974)Cat>Tat	p.H658Y	SELP_ENST00000367792.2_Missense_Mutation_p.H474Y|SELP_ENST00000367786.2_Missense_Mutation_p.H596Y|SELP_ENST00000458599.2_Missense_Mutation_p.H474Y|SELP_ENST00000367791.2_Missense_Mutation_p.H472Y|SELP_ENST00000367793.2_Missense_Mutation_p.H596Y|SELP_ENST00000367794.2_Missense_Mutation_p.H596Y|SELP_ENST00000367788.2_Missense_Mutation_p.H596Y	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	658	Sushi 8.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	GTTCCCGGATGATGCCTACAG	0.502000													13	70					0	0	0.00185496	0	0
MCTP2	55784	broad.mit.edu	37	15	94983425	94983425	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:94983425G>A	ENST00000357742.4	+	17	2106	c.2106G>A	c.(2104-2106)tgG>tgA	p.W702*	MCTP2_ENST00000451018.3_Intron	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	702					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			TCACTGTCTGGAATTTTGAAC	0.393000													23	92					0	0	0.000720815	0	0
PYHIN1	149628	broad.mit.edu	37	1	158914788	158914788	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:158914788C>T	ENST00000368140.1	+	7	1560	c.1315C>T	c.(1315-1317)Cct>Tct	p.P439S	PYHIN1_ENST00000485134.1_3'UTR|PYHIN1_ENST00000392254.2_Missense_Mutation_p.P439S|PYHIN1_ENST00000392252.3_Missense_Mutation_p.P430S|PYHIN1_ENST00000368138.3_Missense_Mutation_p.P430S	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	439					cell cycle	nuclear speck				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					TCTCAAGACTCCTCAGATGCC	0.493000													9	72					0	0	0.000673444	0	0
LYST	1130	broad.mit.edu	37	1	235973692	235973692	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:235973692T>G	ENST00000389794.3	-	5	600	c.426A>C	c.(424-426)aaA>aaC	p.K142N	LYST_ENST00000389793.2_Missense_Mutation_p.K142N|LYST_ENST00000536965.1_Missense_Mutation_p.K142N			Q99698	LYST_HUMAN	lysosomal trafficking regulator	142					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			GTCGTCTGCTTTTTCGAAAAA	0.388000													19	92					0	0	0.00188189	0	0
TRIM51	84767	broad.mit.edu	37	11	55653632	55653632	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:55653632G>A	ENST00000449290.2	+	3	537	c.445G>A	c.(445-447)Gaa>Aaa	p.E149K	TRIM51_ENST00000244891.3_Missense_Mutation_p.E6K	NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN	tripartite motif-containing 51	149						intracellular	zinc ion binding										GTCTTTATGGGAAAAAGCTTG	0.408000													14	12					0	0	0.00244969	0	0
ARHGAP30	257106	broad.mit.edu	37	1	161021199	161021199	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:161021199C>T	ENST00000368013.3	-	10	1645	c.1325G>A	c.(1324-1326)aGg>aAg	p.R442K	ARHGAP30_ENST00000368016.3_Missense_Mutation_p.R442K|ARHGAP30_ENST00000368015.1_Missense_Mutation_p.R265K	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	442					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			ACGGGTGAGCCTGGCCAAGGA	0.632000													15	24					0	0	0.00152264	0	0
DNAH5	1767	broad.mit.edu	37	5	13917339	13917339	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:13917339G>A	ENST00000265104.4	-	8	1106	c.1002C>T	c.(1000-1002)atC>atT	p.I334I		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	334	Stem (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)					TTGCATCAGTGATTCGAATAT	0.378000									Kartagener syndrome				19	36					0	0	0.00152264	0	0
PPL	5493	broad.mit.edu	37	16	4935871	4935871	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:4935871G>A	ENST00000345988.2	-	22	2874	c.2785C>T	c.(2785-2787)Cag>Tag	p.Q929*	PPL_ENST00000590782.2_Nonsense_Mutation_p.Q927*	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN	periplakin	929					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						ACCGATTCCTGAGGCCCCTGA	0.607000													10	63					0	0	0.000673444	0	0
SARNP	84324	broad.mit.edu	37	12	56188601	56188601	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:56188601G>A	ENST00000546837.1	-	11	1303	c.1304C>T	c.(1303-1305)tCg>tTg	p.S435L	SARNP_ENST00000552080.1_Missense_Mutation_p.R123W|SARNP_ENST00000444631.2_Missense_Mutation_p.R63W|SARNP_ENST00000336133.3_Missense_Mutation_p.R123W																							CTAGCTGCCCGAGCAGCTTTC	0.423000													9	32					0	0	0.000442599	0	0
SLC25A17	10478	broad.mit.edu	37	22	41175075	41175075	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr22:41175075T>C	ENST00000402844.3	-	1	1123	c.143A>G	c.(142-144)aAg>aGg	p.K48R	SLC25A17_ENST00000491545.1_5'UTR|SLC25A17_ENST00000435456.2_Missense_Mutation_p.K130R|SLC25A17_ENST00000544408.1_Missense_Mutation_p.K93R|SLC25A17_ENST00000542412.1_Missense_Mutation_p.K57R			O43808	PM34_HUMAN	solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kDa), member 17	130					fatty acid alpha-oxidation	integral to plasma membrane|mitochondrial inner membrane|peroxisomal membrane	adenine nucleotide transmembrane transporter activity|protein binding			central_nervous_system(1)|large_intestine(4)|lung(2)|skin(1)	8						TCCTTGAAGCTTCAGTCTGGT	0.383000													18	23					0	0	0.000566183	0	0
GPR45	11250	broad.mit.edu	37	2	105859087	105859087	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:105859087G>A	ENST00000258456.1	+	1	888	c.772G>A	c.(772-774)Gac>Aac	p.D258N		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	258						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						GGTCAGCGTGGACTTGAGCTT	0.652000													33	51					0	0	0.000953801	0	0
IQGAP1	8826	broad.mit.edu	37	15	90999484	90999484	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:90999484C>T	ENST00000268182.5	+	15	1837	c.1713C>T	c.(1711-1713)gtC>gtT	p.V571V	IQGAP1_ENST00000560738.1_Intron	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	571					energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			TTGAGGGAGTCCTTGCAGAAG	0.478000													7	11					0	0	0.00198382	0	0
TACC1	6867	broad.mit.edu	37	8	38677384	38677384	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:38677384T>C	ENST00000379931.3	+	3	1001	c.622T>C	c.(622-624)Tcc>Ccc	p.S208P	TACC1_ENST00000519416.1_Missense_Mutation_p.S13P|TACC1_ENST00000520340.1_Missense_Mutation_p.S172P|TACC1_ENST00000520973.1_Missense_Mutation_p.S13P|TACC1_ENST00000348567.4_Intron|TACC1_ENST00000317827.4_Missense_Mutation_p.S208P|TACC1_ENST00000443286.2_Missense_Mutation_p.S224P|TACC1_ENST00000520615.1_Missense_Mutation_p.S13P|TACC1_ENST00000522752.1_Intron|TACC1_ENST00000330691.6_Intron|TACC1_ENST00000276520.8_Intron|TACC1_ENST00000518415.1_Missense_Mutation_p.S163P			O75410	TACC1_HUMAN	transforming, acidic coiled-coil containing protein 1	208	Interaction with TDRD7.|Interaction with YEATS4.				cell cycle|cell division	intermediate filament cytoskeleton|microtubule organizing center|nucleus	protein binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			CCTCGAGGCCTCCGCAGAAGC	0.597000													7	32					0	0	0.00198382	0	0
SULF1	23213	broad.mit.edu	37	8	70498601	70498601	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:70498601G>A	ENST00000260128.4	+	7	1139	c.422G>A	c.(421-423)gGa>gAa	p.G141E	SULF1_ENST00000402687.4_Missense_Mutation_p.G141E|SULF1_ENST00000458141.2_Missense_Mutation_p.G141E|SULF1_ENST00000419716.3_Missense_Mutation_p.G141E	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	141					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	p.G141V(1)		breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			GCCTTTTTTGGAAAATACCTC	0.328000													6	77					0	0	0.00116845	0	0
MRI1	84245	broad.mit.edu	37	19	13883066	13883066	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:13883066G>A	ENST00000319545.8	+	6	997	c.940G>A	c.(940-942)Gat>Aat	p.D314N	MRI1_ENST00000040663.6_Missense_Mutation_p.D361N|CTB-5E10.3_ENST00000586894.1_RNA	NM_032285.2	NP_115661.1	Q9BV20	MTNA_HUMAN	methylthioribose-1-phosphate isomerase 1	361					L-methionine salvage from methylthioadenosine	cell projection|cytoplasm|nucleus	identical protein binding|S-methyl-5-thioribose-1-phosphate isomerase activity			breast(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6						CTCTTCCAGGGATGGAACCCT	0.542000													6	12					0	0	0.00307968	0	0
DNAH11	8701	broad.mit.edu	37	7	21742383	21742383	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:21742383C>T	ENST00000328843.6	+	38	6288	c.6257C>T	c.(6256-6258)tCt>tTt	p.S2086F	DNAH11_ENST00000409508.3_Missense_Mutation_p.S2079F			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2086					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						GTGGCTGGATCTCTGAAACGA	0.398000									Kartagener syndrome				5	32					0	0	0.00116845	0	0
ACTN2	88	broad.mit.edu	37	1	236908053	236908053	+	Silent	SNP	C	C	T	rs34827377	byFrequency	TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:236908053C>T	ENST00000366578.4	+	12	1549	c.1383C>T	c.(1381-1383)atC>atT	p.I461I	ACTN2_ENST00000546208.1_5'UTR|ACTN2_ENST00000492634.1_3'UTR|ACTN2_ENST00000542672.1_Silent_p.I461I	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	461					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			TGGAGCAGATCGCAGCCATCG	0.652000													5	9					0	0	0.00307968	0	0
KIR3DL1	3811	broad.mit.edu	37	19	55329824	55329824	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:55329824G>A	ENST00000391728.4	+	3	158	c.125G>A	c.(124-126)gGa>gAa	p.G42E	KIR3DL1_ENST00000358178.4_Intron|KIR3DL1_ENST00000538269.1_Missense_Mutation_p.G42E|KIR3DL1_ENST00000541392.1_Missense_Mutation_p.G42E|KIR3DL1_ENST00000402254.2_Missense_Mutation_p.G42E|KIR3DL1_ENST00000326542.7_Missense_Mutation_p.G42E	NM_013289.2	NP_037421.2			killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1											breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		GTGCCTCGAGGAGGACACGTG	0.527000													13	52					0	0	0.00400662	0	0
PCLO	27445	broad.mit.edu	37	7	82583913	82583913	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:82583913G>A	ENST00000423517.2	-	5	6693	c.6356C>T	c.(6355-6357)tCg>tTg	p.S2119L	PCLO_ENST00000333891.8_Missense_Mutation_p.S2119L	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2050					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						ACTGCTGGTCGAATCTGTAAG	0.418000													8	40					0	0	0.000442599	0	0
MAN2B2	23324	broad.mit.edu	37	4	6607052	6607052	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:6607052G>A	ENST00000285599.3	+	11	1846	c.1810G>A	c.(1810-1812)Gag>Aag	p.E604K	MAN2B2_ENST00000504960.1_3'UTR|MAN2B2_ENST00000504248.1_Missense_Mutation_p.E553K	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	604					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						CAGCATCTGGGAGAGGTAAGG	0.582000													5	25					0	0	0.00198382	0	0
ACOXL	55289	broad.mit.edu	37	2	111551231	111551231	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:111551231G>A	ENST00000389811.4	+	4	388	c.164G>A	c.(163-165)gGa>gAa	p.G55E	ACOXL_ENST00000439055.1_Missense_Mutation_p.G55E|ACOXL_ENST00000340561.4_Missense_Mutation_p.G55E			Q9NUZ1	ACOXL_HUMAN	acyl-CoA oxidase-like	55					fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						TTCCAGTGCGGAATAATTTAT	0.423000													16	82					0	0	0.00121646	0	0
PCLO	27445	broad.mit.edu	37	7	82585021	82585021	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:82585021C>T	ENST00000423517.2	-	5	5585	c.5248G>A	c.(5248-5250)Gga>Aga	p.G1750R	PCLO_ENST00000333891.8_Missense_Mutation_p.G1750R	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1681					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						TTGCTCTCTCCTTTTTTGTGA	0.473000													19	154					0	0	0.00229938	0	0
ADH4	127	broad.mit.edu	37	4	100057780	100057780	+	Missense_Mutation	SNP	C	C	T	rs139053416		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:100057780C>T	ENST00000508393.1	-	6	641	c.476G>A	c.(475-477)gGa>gAa	p.G159E	ADH4_ENST00000423445.1_Missense_Mutation_p.G159E|RP11-696N14.1_ENST00000500358.2_RNA|ADH4_ENST00000505590.1_Missense_Mutation_p.G159E|ADH4_ENST00000265512.7_Missense_Mutation_p.G140E			P08319	ADH4_HUMAN	alcohol dehydrogenase 4 (class II), pi polypeptide	140					alcohol catabolic process|cellular aldehyde metabolic process|ethanol oxidation|quinone cofactor metabolic process|retinol metabolic process|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	alcohol dehydrogenase activity, zinc-dependent|all-trans retinal binding|benzaldehyde dehydrogenase activity|NAD binding|NADPH:quinone reductase activity|retinol binding|retinol dehydrogenase activity|zinc ion binding	p.G140E(1)		NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)	NADH(DB00157)	AACTGGTTTTCCTTTGCAGGT	0.348000													17	28					0	0	0.000958276	0	0
ATG9A	79065	broad.mit.edu	37	2	220088458	220088458	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:220088458G>A	ENST00000409618.1	-	10	1887	c.1448C>T	c.(1447-1449)cCc>cTc	p.P483L	ATG9A_ENST00000361242.4_Missense_Mutation_p.P483L|ATG9A_ENST00000409422.1_Missense_Mutation_p.P422L|ATG9A_ENST00000396761.2_Missense_Mutation_p.P483L			Q7Z3C6	ATG9A_HUMAN	autophagy related 9A	483					autophagic vacuole assembly|protein transport	autophagic vacuole membrane|cytoplasmic vesicle|Golgi apparatus|integral to membrane|late endosome membrane				endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1)	13		Renal(207;0.0474)		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGTGACAATGGGGCTCAGCAA	0.577000													9	39					0	0	0.000442599	0	0
LGI1	9211	broad.mit.edu	37	10	95552643	95552643	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:95552643C>T	ENST00000371418.4	+	6	907	c.647C>T	c.(646-648)tCg>tTg	p.S216L	LGI1_ENST00000542308.1_Missense_Mutation_p.S168L|LGI1_ENST00000371413.3_Missense_Mutation_p.S216L	NM_005097.2	NP_005088.1	O95970	LGI1_HUMAN	leucine-rich, glioma inactivated 1	216	LRRCT.				axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission	cell junction|extracellular space|synapse	receptor binding			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				AGTCTCTCCTCGAAGGATTTT	0.418000													16	27					0	0	0.00188189	0	0
SATB2	23314	broad.mit.edu	37	2	200137150	200137150	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:200137150G>A	ENST00000443023.1	-	10	3274	c.1809C>T	c.(1807-1809)ttC>ttT	p.F603F	SATB2_ENST00000457245.1_Silent_p.F662F|SATB2_ENST00000417098.1_Silent_p.F662F|SATB2_ENST00000428695.1_Silent_p.F544F|SATB2_ENST00000260926.5_Silent_p.F662F			Q9UPW6	SATB2_HUMAN	SATB homeobox 2	662						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GGTTCTGGAAGAACTTGATGA	0.542000													25	43					0	0	0.000720815	0	0
NTRK2	4915	broad.mit.edu	37	9	87570406	87570406	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:87570406G>A	ENST00000376214.1	+	19	3084	c.2146G>A	c.(2146-2148)Gac>Aac	p.D716N	NTRK2_ENST00000376213.1_Missense_Mutation_p.D700N|NTRK2_ENST00000277120.3_Missense_Mutation_p.D716N|NTRK2_ENST00000323115.4_Missense_Mutation_p.D700N	NM_006180.3	NP_006171.2	Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	700	Protein kinase.				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46						GATGTCCCGGGACGTGTACAG	0.587000										TSP Lung(25;0.17)			5	7					0	0	0.00198382	0	0
PRKCB	5579	broad.mit.edu	37	16	24196822	24196822	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:24196822C>T	ENST00000303531.7	+	15	1808	c.1656C>T	c.(1654-1656)tcC>tcT	p.S552S	PRKCB_ENST00000321728.7_Silent_p.S552S	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	552	Protein kinase.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	TCTTCCAATCCATCATGGAAC	0.522000													10	40					0	0	0.000978159	0	0
PALD1	27143	broad.mit.edu	37	10	72324250	72324250	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:72324250G>A	ENST00000263563.6	+	19	2661	c.2393G>A	c.(2392-2394)aGg>aAg	p.R798K		NM_014431.2	NP_055246.2			phosphatase domain containing, paladin 1																		TCCTGGCAGAGGCCCTTCAGC	0.647000													19	34					0	0	0.00188189	0	0
SGMS1	259230	broad.mit.edu	37	10	52103686	52103686	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:52103686C>T	ENST00000361781.2	-	7	1148	c.189G>A	c.(187-189)atG>atA	p.M63I	SGMS1_ENST00000429490.1_Intron|SGMS1_ENST00000361543.2_Missense_Mutation_p.M63I	NM_147156.3	NP_671512.1	Q86VZ5	SMS1_HUMAN	sphingomyelin synthase 1	69	SAM.				apoptosis|cell growth|sphingomyelin biosynthetic process	endoplasmic reticulum|Golgi trans cisterna|integral to Golgi membrane|nucleus|plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						GGGTTTCTATCATGTCCAGGA	0.532000													9	21					0	0	0.000442599	0	0
ARNT2	9915	broad.mit.edu	37	15	80743333	80743333	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:80743333C>T	ENST00000533983.1	+	3	450	c.111C>T	c.(109-111)tcC>tcT	p.S37S	ARNT2_ENST00000527771.1_Silent_p.S37S|ARNT2_ENST00000303329.4_Silent_p.S48S			Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	48					central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			AGCGGCGTTCCGGGTAAGCGA	0.547000													11	44					0	0	0.00136819	0	0
MED12L	116931	broad.mit.edu	37	3	151094807	151094807	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:151094807A>G	ENST00000474524.1	+	28	4090	c.4052A>G	c.(4051-4053)aAc>aGc	p.N1351S	P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000273432.4_Missense_Mutation_p.N1211S	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1351					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GAAATGAACAACTTACTGGAC	0.398000													6	25					0	0	0.00198382	0	0
OR51A7	119687	broad.mit.edu	37	11	4928877	4928877	+	Missense_Mutation	SNP	C	C	T	rs145773250		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:4928877C>T	ENST00000359350.4	+	1	278	c.278C>T	c.(277-279)tCa>tTa	p.S93L	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004749.1	NP_001004749.1	Q8NH64	O51A7_HUMAN	olfactory receptor, family 51, subfamily A, member 7	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S93L(1)		breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATGGGAATTTCACCTAATGCC	0.443000													5	57					0	0	0.00116845	0	0
LEPR	3953	broad.mit.edu	37	1	66067587	66067587	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:66067587G>A	ENST00000349533.6	+	10	1532	c.1347G>A	c.(1345-1347)tgG>tgA	p.W449*	LEPR_ENST00000371060.3_Nonsense_Mutation_p.W449*|LEPR_ENST00000371058.1_Nonsense_Mutation_p.W449*|LEPR_ENST00000371059.3_Nonsense_Mutation_p.W449*|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000462765.1_3'UTR|LEPR_ENST00000344610.8_Nonsense_Mutation_p.W449*	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	449					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)		CTTGCAGATGGTCAACCAGTA	0.328000													17	74					0	0	0.00074312	0	0
GOLGB1	2804	broad.mit.edu	37	3	121438523	121438523	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:121438523G>A	ENST00000393667.3	-	7	851	c.741C>T	c.(739-741)acC>acT	p.T247T	GOLGB1_ENST00000340645.5_Silent_p.T242T	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	242					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)		CATCTGCCTGGGTTACTAACT	0.433000													13	31					0	0	0.00316338	0	0
GNG8	94235	broad.mit.edu	37	19	47137370	47137370	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:47137370G>A	ENST00000300873.4	-	2	178	c.176C>T	c.(175-177)cCc>cTc	p.P59L		NM_033258.1	NP_150283.1	Q9UK08	GBG8_HUMAN	guanine nucleotide binding protein (G protein), gamma 8	59					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|synaptic transmission	extracellular region|heterotrimeric G-protein complex	GTPase activity|signal transducer activity						Ovarian(192;0.0798)|all_neural(266;0.107)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.000621)|Epithelial(262;0.0171)|GBM - Glioblastoma multiforme(486;0.0325)		GTCGCGGAAGGGGTTCTCCGC	0.592000													5	24					0	0	0.000602214	0	0
PLCB1	23236	broad.mit.edu	37	20	8608941	8608941	+	Splice_Site	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:8608941G>A	ENST00000378641.3	+	4	722	c.246_splice	c.e4-1	p.D83_splice	PLCB1_ENST00000378637.2_Splice_Site_p.D83_splice|PLCB1_ENST00000338037.6_Splice_Site_p.D83_splice	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	83					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						TATTACCCAGGACCCCAAATT	0.423000													4	24					0	0	0.00024832	0	0
COL14A1	7373	broad.mit.edu	37	8	121220506	121220506	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:121220506G>A	ENST00000297848.3	+	11	1497	c.1227G>A	c.(1225-1227)ttG>ttA	p.L409L	COL14A1_ENST00000537875.1_Silent_p.L409L|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000247781.3_Silent_p.L314L|COL14A1_ENST00000309791.4_Silent_p.L409L	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	409	Fibronectin type-III 2.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	p.L409L(1)		NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CCACAGTGTTGAAAAACTTGA	0.388000													14	30					0	0	0.00400662	0	0
TNRC6A	27327	broad.mit.edu	37	16	24801572	24801572	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:24801572C>T	ENST00000395799.3	+	6	1738	c.1609C>T	c.(1609-1611)Cct>Tct	p.P537S	TNRC6A_ENST00000315183.7_Missense_Mutation_p.P537S	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	537	Sufficient for interaction with EIF2C2.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		ATGTTCAGGCCCTAATGGCCA	0.448000													20	83					0	0	0.00188189	0	0
RIMS2	9699	broad.mit.edu	37	8	104778598	104778598	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:104778598G>A	ENST00000406091.3	+	3	531	c.531G>A	c.(529-531)caG>caA	p.Q177Q		NM_001100117.2	NP_001093587.1	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	208	RabBD.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			AGGCACCTCAGGAGAAGAAAC	0.453000										HNSCC(12;0.0054)			9	42					0	0	0.000978159	0	0
TET3	200424	broad.mit.edu	37	2	74274192	74274192	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:74274192C>T	ENST00000409262.3	+	1	743	c.743C>T	c.(742-744)cCc>cTc	p.P248L		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	248							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GCTTCTTGCCCCCTTCCTGAG	0.592000													5	25					0	0	0.000274275	0	0
KLK4	9622	broad.mit.edu	37	19	51411946	51411946	+	Silent	SNP	A	A	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:51411946A>G	ENST00000324041.1	-	3	363	c.364T>C	c.(364-366)Ttg>Ctg	p.L122L	KLK4_ENST00000431178.2_Silent_p.L73L	NM_004917.3	NP_004908.3	Q9Y5K2	KLK4_HUMAN	kallikrein-related peptidase 4	122	Peptidase S1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)		GATTCGTCCAACTTGATGAGC	0.597000													6	37					0	0	0.00198382	0	0
KCNQ3	3786	broad.mit.edu	37	8	133184932	133184932	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:133184932C>T	ENST00000388996.4	-	7	1473	c.1053G>A	c.(1051-1053)ctG>ctA	p.L351L	KCNQ3_ENST00000519445.1_Silent_p.L351L|KCNQ3_ENST00000521134.1_Silent_p.L231L	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	351					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			GCCCGGACCCCAGGATGCCCT	0.612000													6	41					0	0	0.00116845	0	0
FNIP1	96459	broad.mit.edu	37	5	131006311	131006311	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:131006311C>T	ENST00000307968.7	-	14	2868	c.2869G>A	c.(2869-2871)Gaa>Aaa	p.E957K	FNIP1_ENST00000307954.8_Missense_Mutation_p.E940K|FNIP1_ENST00000510461.1_Missense_Mutation_p.E985K|FNIP1_ENST00000514667.1_Intron	NM_001008738.2	NP_001008738.2			folliculin interacting protein 1											NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		GCACTCACTTCGATTAACTTT	0.383000													11	45					0	0	0.00136819	0	0
ZNF823	55552	broad.mit.edu	37	19	11833312	11833312	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:11833312G>A	ENST00000341191.6	-	4	1190	c.1037C>T	c.(1036-1038)tCa>tTa	p.S346L	ZNF823_ENST00000545749.1_Missense_Mutation_p.S164L	NM_001080493.2	NP_001073962.1	P16415	ZN823_HUMAN	zinc finger protein 823	346					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)	26						ATTTCGAACTGAACTAGGACA	0.413000										HNSCC(68;0.2)			18	48					0	0	0.000566183	0	0
SYMPK	8189	broad.mit.edu	37	19	46345590	46345590	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:46345590G>A	ENST00000245934.7	-	9	1249	c.1005C>T	c.(1003-1005)atC>atT	p.I335I		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	335					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		TGTTGCGGGCGATCTCGGCCT	0.637000													7	30					0	0	0.000274275	0	0
WASF3	10810	broad.mit.edu	37	13	27241696	27241696	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr13:27241696C>T	ENST00000361042.4	+	5	536	c.311C>T	c.(310-312)tCc>tTc	p.S104F	WASF3_ENST00000335327.5_Missense_Mutation_p.S104F|WASF3_ENST00000496788.1_3'UTR			Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	104					actin filament polymerization	cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		TTCAAAAGTTCCACAGTCCAA	0.373000													15	56					0	0	0.00400662	0	0
DDX49	54555	broad.mit.edu	37	19	19032557	19032557	+	Splice_Site	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:19032557G>A	ENST00000438170.2	+	4	416	c.4_splice	c.e4+1	p.D2_splice	DDX49_ENST00000247003.4_Splice_Site_p.D109_splice|AC002985.3_ENST00000596918.1_Intron			Q9Y6V7	DDX49_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 49	109							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|endometrium(6)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	18			Epithelial(12;0.0289)			CGGTGGCATGGGTACGGGAGC	0.642000													7	23					0	0	0.00307968	0	0
MUC4	4585	broad.mit.edu	37	3	195479950	195479950	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:195479950C>T	ENST00000463781.3	-	20	15939	c.15480G>A	c.(15478-15480)ggG>ggA	p.G5160G	MUC4_ENST00000346145.4_Silent_p.G924G|MUC4_ENST00000475231.1_Silent_p.G5108G|MUC4_ENST00000349607.4_Silent_p.G873G	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1917					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGAAGTTGTTCCCAGCCAGGA	0.637000													12	32					0	0	0.00185496	0	0
OTOL1	131149	broad.mit.edu	37	3	161221434	161221434	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:161221434T>C	ENST00000327928.4	+	4	1138	c.1138T>C	c.(1138-1140)Ttt>Ctt	p.F380L		NM_001080440.1	NP_001073909.1	A6NHN0	OTOL1_HUMAN	otolin 1	380	C1q.					collagen				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						CACTGGGAAGTTTAACTGCTC	0.448000													3	7					0	0	0.000602214	0	0
GEM	2669	broad.mit.edu	37	8	95265325	95265325	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:95265325C>T	ENST00000297596.2	-	3	611	c.347G>A	c.(346-348)cGa>cAa	p.R116Q	GEM_ENST00000396194.2_Missense_Mutation_p.R116Q	NM_005261.3	NP_005252.1	P55040	GEM_HUMAN	GTP binding protein overexpressed in skeletal muscle	116					cell surface receptor linked signaling pathway|immune response|small GTPase mediated signal transduction	internal side of plasma membrane	calmodulin binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding			endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(36;4.65e-06)	Myeloproliferative disorder(644;0.204)	BRCA - Breast invasive adenocarcinoma(8;0.00691)			CATCAGGGTTCGTTCATATGT	0.413000													10	79					0	0	0.00244969	0	0
SF3B2	10992	broad.mit.edu	37	11	65828151	65828151	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:65828151C>T	ENST00000528302.1	+	13	1731	c.1677C>T	c.(1675-1677)ttC>ttT	p.F559F	SF3B2_ENST00000322535.6_Silent_p.F576F			Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	576					interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						ATGCCTTCTTCAAGTGGCAGA	0.517000													17	65					0	0	0.00188189	0	0
PLEKHS1	79949	broad.mit.edu	37	10	115533988	115533988	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:115533988G>A	ENST00000361048.1	+	9	1002	c.675G>A	c.(673-675)ttG>ttA	p.L225L	PLEKHS1_ENST00000354462.3_5'UTR|PLEKHS1_ENST00000369312.4_Silent_p.L137L|PLEKHS1_ENST00000369310.3_Silent_p.L219L|PLEKHS1_ENST00000369309.1_Silent_p.L39L	NM_024889.4	NP_079165.3			pleckstrin homology domain containing, family S member 1																		ATCTGCAGTTGGATAATATCA	0.403000													9	25					0	0	0.000442599	0	0
PTPRF	5792	broad.mit.edu	37	1	44084800	44084800	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:44084800C>T	ENST00000359947.4	+	27	4913	c.4573C>T	c.(4573-4575)Ccc>Tcc	p.P1525S	PTPRF_ENST00000422171.2_Missense_Mutation_p.P884S|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000438120.1_Missense_Mutation_p.P1516S|PTPRF_ENST00000372413.3_Missense_Mutation_p.P1516S|PTPRF_ENST00000372414.3_Missense_Mutation_p.P1525S	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1525	Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GTACCCAACTCCCATCCTGGC	0.617000													4	10					0	0	0.00024832	0	0
AFAP1	60312	broad.mit.edu	37	4	7776622	7776622	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:7776622G>T	ENST00000420658.1	-	15	2178	c.1906C>A	c.(1906-1908)Cag>Aag	p.Q636K	AFAP1_ENST00000360265.4_Missense_Mutation_p.Q552K|AFAP1_ENST00000382543.3_Missense_Mutation_p.Q636K|AFAP1_ENST00000358461.2_Missense_Mutation_p.Q552K|AFAP1_ENST00000513842.1_5'UTR	NM_001134647.1	NP_001128119.1	Q8N556	AFAP1_HUMAN	actin filament associated protein 1	582	Interaction with F-actin (By similarity).					actin cytoskeleton|cytoplasm|focal adhesion	actin binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						TACTTGTACTGGGCAGCATCT	0.453000													9	132					0.00244969	0.00706887	0.00244969	1	0
LPIN3	64900	broad.mit.edu	37	20	39978904	39978904	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:39978904C>T	ENST00000373257.3	+	7	1060	c.969C>T	c.(967-969)acC>acT	p.T323T		NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	323					fatty acid metabolic process	nucleus	phosphatidate phosphatase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				CTCTCCACACCCCAGAGACAG	0.607000													4	19					0	0	0.000602214	0	0
ABCB5	340273	broad.mit.edu	37	7	20721180	20721180	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:20721180G>A	ENST00000404938.2	+	15	2412	c.1760G>A	c.(1759-1761)cGa>cAa	p.R587Q	ABCB5_ENST00000258738.6_Missense_Mutation_p.R142Q	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	142	ABC transporter 2.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	p.R142Q(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						TCTACTATTCGAAGTGCAGAT	0.403000													9	60					0	0	0.000274275	0	0
RP11-704M14.1	0	broad.mit.edu	37	4	70080479	70080479	+	RNA	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:70080479C>T	ENST00000505646.1	+	0	643																											GTCACTGTTTCTTTCTCATAC	0.363000													11	39					0	0	0.000978159	0	0
IGKV6D-41	28869	broad.mit.edu	37	2	90108575	90108575	+	RNA	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:90108575C>T	ENST00000390271.2	+	0	72																											CCTCTGGGTTCCAGGTGAGAA	0.393000													27	14					0	0	0.00283554	0	0
ADTRP	84830	broad.mit.edu	37	6	11778911	11778911	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:11778911C>T	ENST00000414691.3	-	1	492	c.82G>A	c.(82-84)Gga>Aga	p.G28R	ADTRP_ENST00000229583.5_Missense_Mutation_p.G28R|ADTRP_ENST00000379413.2_Missense_Mutation_p.G28R	NM_032744.3	NP_116133.1	Q96IZ2	CF105_HUMAN	androgen-dependent TFPI-regulating protein	28						integral to membrane											TCGTCTTTTCCTTCCTGTGAG	0.458000													20	181					0	0	0.00152264	0	0
CADM1	23705	broad.mit.edu	37	11	115109315	115109315	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:115109315G>A	ENST00000542447.2	-	3	457	c.329C>T	c.(328-330)tCa>tTa	p.S110L	CADM1_ENST00000537058.1_Missense_Mutation_p.S110L|CADM1_ENST00000536727.1_Missense_Mutation_p.S110L|CADM1_ENST00000537140.1_5'UTR|CADM1_ENST00000452722.2_Missense_Mutation_p.S110L|CADM1_ENST00000331581.6_Missense_Mutation_p.S110L	NM_001098517.1	NP_001091987.1	Q9BY67	CADM1_HUMAN	cell adhesion molecule 1	110	Ig-like V-type.				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		GTTTGTCAATGATACTTTGAG	0.428000													5	22					0	0	0.00116845	0	0
KBTBD8	84541	broad.mit.edu	37	3	67053899	67053899	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:67053899C>T	ENST00000295568.4	+	3	561	c.430C>T	c.(430-432)Cga>Tga	p.R144*	KBTBD8_ENST00000460576.1_Intron|KBTBD8_ENST00000417314.2_Nonsense_Mutation_p.R170*|KBTBD8_ENST00000469661.1_Intron	NM_032505.2	NP_115894.2	Q8NFY9	KBTB8_HUMAN	kelch repeat and BTB (POZ) domain containing 8	170										breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		ACTCGGAGATCGATCAAAAGA	0.378000													13	38					0	0	0.00316338	0	0
MARCO	8685	broad.mit.edu	37	2	119739064	119739064	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:119739064C>T	ENST00000541757.1	+	10	992	c.612C>T	c.(610-612)ttC>ttT	p.F204F	MARCO_ENST00000327097.4_Silent_p.F282F			Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	282	Collagen-like.				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						AAGGTGACTTCGGGAGGCCAG	0.527000													6	12					0	0	0.00198382	0	0
ASXL1	171023	broad.mit.edu	37	20	31021701	31021701	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:31021701C>T	ENST00000375687.4	+	12	2124	c.1700C>T	c.(1699-1701)cCc>cTc	p.P567L	ASXL1_ENST00000306058.5_Missense_Mutation_p.P562L	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 (Drosophila)	567					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						AAAGAGGAGCCCAAAGTCCCG	0.512000			"""F, N, Mis"""		"""MDS, CMML"""								17	38					0	0	0.00121646	0	0
TRPC7	57113	broad.mit.edu	37	5	135692717	135692717	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:135692717C>T	ENST00000513104.1	-	2	641	c.359G>A	c.(358-360)cGc>cAc	p.R120H	TRPC7_ENST00000426057.2_Missense_Mutation_p.R120H|TRPC7_ENST00000355180.3_Missense_Mutation_p.R120H	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	120					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CTCCACGATGCGCACATAGCC	0.662000													5	18					0	0	0.000602214	0	0
GEMIN5	25929	broad.mit.edu	37	5	154271173	154271173	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:154271173G>A	ENST00000285873.7	-	26	3965	c.3890C>T	c.(3889-3891)cCa>cTa	p.P1297L		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	1297					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ACTGGAATTTGGGCAAGGTCT	0.502000													15	30					0	0	0.00400662	0	0
CREB5	9586	broad.mit.edu	37	7	28763871	28763871	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:28763871C>T	ENST00000357727.2	+	7	1014	c.624C>T	c.(622-624)atC>atT	p.I208I	CREB5_ENST00000396299.2_Silent_p.I175I|CREB5_ENST00000409603.1_Silent_p.I175I|CREB5_ENST00000396298.2_Silent_p.I69I|CREB5_ENST00000396300.2_Silent_p.I201I	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	208					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						ACTCCAGCATCATGGGGATGC	0.453000													18	117					0	0	0.00121646	0	0
SIDT2	51092	broad.mit.edu	37	11	117059475	117059475	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:117059475C>T	ENST00000324225.4	+	13	1742	c.1211C>T	c.(1210-1212)tCt>tTt	p.S404F	SIDT2_ENST00000431081.2_Missense_Mutation_p.S401F	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2	404						integral to membrane|lysosomal membrane				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		TCCATGAGCTCTGTGGAGGAG	0.592000													14	34					0	0	0.00244969	0	0
TMEM225	338661	broad.mit.edu	37	11	123753896	123753896	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:123753896C>T	ENST00000375026.2	-	4	843	c.627G>A	c.(625-627)gtG>gtA	p.V209V		NM_001013743.1	NP_001013765.1	Q6GV28	TM225_HUMAN	transmembrane protein 225	209						integral to membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						TTAGGGAATTCACAGTGTGTG	0.398000													25	9					0	0	0.001512	0	0
LPHN2	23266	broad.mit.edu	37	1	82302695	82302695	+	Missense_Mutation	SNP	G	G	A	rs138982442	byFrequency	TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:82302695G>A	ENST00000370728.1	+	5	671	c.26G>A	c.(25-27)cGa>cAa	p.R9Q	LPHN2_ENST00000370715.1_Missense_Mutation_p.R9Q|LPHN2_ENST00000469377.2_3'UTR|LPHN2_ENST00000370713.1_Missense_Mutation_p.R9Q|LPHN2_ENST00000394879.1_Missense_Mutation_p.R9Q|LPHN2_ENST00000319517.6_Missense_Mutation_p.R9Q|LPHN2_ENST00000370721.1_Missense_Mutation_p.R9Q|LPHN2_ENST00000370717.2_Missense_Mutation_p.R9Q|LPHN2_ENST00000370727.1_Missense_Mutation_p.R9Q|LPHN2_ENST00000370730.1_Missense_Mutation_p.R9Q|LPHN2_ENST00000359929.3_Missense_Mutation_p.R9Q|LPHN2_ENST00000370723.1_Missense_Mutation_p.R9Q|LPHN2_ENST00000370725.1_Missense_Mutation_p.R9Q|LPHN2_ENST00000335786.5_Missense_Mutation_p.R9Q|LPHN2_ENST00000271029.4_Missense_Mutation_p.R9Q			O95490	LPHN2_HUMAN	latrophilin 2	9					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TGCAGAATGCGAAGTCTGTGG	0.333000													6	37					0	0	0.00307968	0	0
TLK2	11011	broad.mit.edu	37	17	60642473	60642473	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:60642473G>A	ENST00000582809.1	+	12	1199	c.496G>A	c.(496-498)Ggt>Agt	p.G166S	TLK2_ENST00000326270.9_Missense_Mutation_p.G315S|TLK2_ENST00000343388.7_Missense_Mutation_p.G283S|TLK2_ENST00000542523.1_Missense_Mutation_p.G283S|TLK2_ENST00000346027.5_Missense_Mutation_p.G315S			Q86UE8	TLK2_HUMAN	tousled-like kinase 2	315					cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						GTGGACAGATGGTTATGCTTT	0.393000													46	40					0	0	0.00361006	0	0
TRAF1	7185	broad.mit.edu	37	9	123667328	123667328	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:123667328G>A	ENST00000373887.3	-	8	3666	c.1221C>T	c.(1219-1221)ttC>ttT	p.F407F	TRAF1_ENST00000540010.1_Silent_p.F407F|TRAF1_ENST00000546084.1_Silent_p.F285F	NM_005658.4	NP_005649.1	Q13077	TRAF1_HUMAN	TNF receptor-associated factor 1	407	MATH.				apoptosis|positive regulation of NF-kappaB transcription factor activity|protein complex assembly|regulation of apoptosis|signal transduction	cytoplasm	protein binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(4)|pancreas(1)|skin(2)	22						TGCACTTGAGGAACATTGTGT	0.587000													6	11					0	0	0.00198382	0	0
PREX2	80243	broad.mit.edu	37	8	68972989	68972989	+	Silent	SNP	A	A	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:68972989A>G	ENST00000288368.4	+	11	1591	c.1314A>G	c.(1312-1314)ttA>ttG	p.L438L	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	438	DEP 1.				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						GACAAGCATTATTAGAAAATG	0.353000													26	89					0	0	0.00106085	0	0
KCNQ3	3786	broad.mit.edu	37	8	133182620	133182620	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:133182620C>T	ENST00000388996.4	-	8	1616	c.1196G>A	c.(1195-1197)tGg>tAg	p.W399*	KCNQ3_ENST00000519445.1_Nonsense_Mutation_p.W399*|KCNQ3_ENST00000521134.1_Nonsense_Mutation_p.W279*	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	399					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			ATAAAATCTCCATGTCGCCAC	0.532000													23	43					0	0	0.001512	0	0
OGDHL	55753	broad.mit.edu	37	10	50964886	50964886	+	Missense_Mutation	SNP	C	C	T	rs145127820	by1000genomes	TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:50964886C>T	ENST00000374103.4	-	3	396	c.311G>A	c.(310-312)cGg>cAg	p.R104Q	OGDHL_ENST00000432695.1_Intron|OGDHL_ENST00000419399.1_Intron	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	104					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						GGTCTTGGTCCGACTTGAGAC	0.612000													5	21					0	0	0.00198382	0	0
GABRB2	2561	broad.mit.edu	37	5	160757911	160757911	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:160757911C>T	ENST00000274547.2	-	9	1273	c.1056G>A	c.(1054-1056)aaG>aaA	p.K352K	GABRB2_ENST00000520240.1_Silent_p.K352K|GABRB2_ENST00000517901.1_Silent_p.K289K|GABRB2_ENST00000517547.1_Silent_p.K192K|GABRB2_ENST00000393959.1_Silent_p.K352K|GABRB2_ENST00000353437.6_Silent_p.K352K	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	352					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CCAGGCGCATCTTCTCATTGT	0.488000													25	104					0	0	0.00106085	0	0
NWD1	284434	broad.mit.edu	37	19	16918718	16918718	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:16918718G>A	ENST00000524140.2	+	18	4476	c.4058G>A	c.(4057-4059)aGc>aAc	p.S1353N	NWD1_ENST00000552788.1_Missense_Mutation_p.S1353N|NWD1_ENST00000549814.1_Missense_Mutation_p.S1311N|NWD1_ENST00000339803.6_Missense_Mutation_p.S1218N|NWD1_ENST00000379808.3_Missense_Mutation_p.S1353N|NWD1_ENST00000523826.1_Missense_Mutation_p.S1147N	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1353							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						ACCCTCTCCAGCGTGGCCATT	0.572000													13	61					0	0	0.000566183	0	0
BSN	8927	broad.mit.edu	37	3	49699446	49699446	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:49699446C>T	ENST00000296452.4	+	6	10282	c.10168C>T	c.(10168-10170)Cca>Tca	p.P3390S		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	3390					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)		GTCCTACCCCCCACCTGCAGT	0.537000													13	45					0	0	0.00136819	0	0
OR2M5	127059	broad.mit.edu	37	1	248308485	248308485	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:248308485C>T	ENST00000366476.1	+	1	36	c.36C>T	c.(34-36)ttC>ttT	p.F12F		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	12					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			ACTCTGACTTCATCCTCCTGG	0.443000													31	64					0	0	0.00428921	0	0
SLC8A1	6546	broad.mit.edu	37	2	40656528	40656528	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:40656528G>A	ENST00000406785.1	-	2	1082	c.893C>T	c.(892-894)tCt>tTt	p.S298F	SLC8A1_ENST00000405901.3_Missense_Mutation_p.S298F|SLC8A1_ENST00000402441.1_Missense_Mutation_p.S298F|SLC8A1_ENST00000542756.1_Missense_Mutation_p.S298F|SLC8A1_ENST00000403092.1_Missense_Mutation_p.S298F|SLC8A1_ENST00000332839.4_Missense_Mutation_p.S298F|SLC8A1_ENST00000542024.1_Missense_Mutation_p.S298F|SLC8A1_ENST00000408028.2_Missense_Mutation_p.S298F|SLC8A1_ENST00000406391.2_Missense_Mutation_p.S298F|SLC8A1_ENST00000405269.1_Missense_Mutation_p.S298F			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	298					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TTCAACATGAGAATTGACCAC	0.453000													8	57					0	0	0.00307968	0	0
UNK	85451	broad.mit.edu	37	17	73808213	73808213	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:73808213C>T	ENST00000293218.3	+	4	563	c.563C>T	c.(562-564)aCc>aTc	p.T188I	UNK_ENST00000589666.1_Missense_Mutation_p.T112I			Q9C0B0	UNK_HUMAN	unkempt family zinc finger	112							nucleic acid binding|zinc ion binding			cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			CTGCACAGAACCACAGGGGAC	0.567000													5	27					0	0	0.000602214	0	0
AE000661.37	0	broad.mit.edu	37	14	22924265	22924265	+	RNA	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:22924265G>A	ENST00000514473.2	-	0	225				TRDJ4_ENST00000390474.1_RNA																							TTTGGCAAAGGAACCTATCTG	0.423000													6	18					0	0	0.00307968	0	0
FAM105A	54491	broad.mit.edu	37	5	14601330	14601330	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:14601330G>A	ENST00000274217.3	+	3	353	c.233G>A	c.(232-234)gGa>gAa	p.G78E		NM_019018.2	NP_061891.1	Q9NUU6	F105A_HUMAN	family with sequence similarity 105, member A	78										large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Lung NSC(4;0.00592)					AGGTGGATTGGATATCTGCAG	0.308000													9	64					0	0	0.000978159	0	0
NRXN3	9369	broad.mit.edu	37	14	79181283	79181283	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:79181283C>T	ENST00000554719.1	+	5	1217	c.726C>T	c.(724-726)ttC>ttT	p.F242F	NRXN3_ENST00000335750.5_Silent_p.F242F	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	0	Laminin G-like.				angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GCGACCTATTCATTGATGGGC	0.577000													5	15					0	0	0.000602214	0	0
MAGI1	9223	broad.mit.edu	37	3	65372851	65372851	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:65372851C>T	ENST00000330909.8	-	15	2466	c.2467G>A	c.(2467-2469)Gaa>Aaa	p.E823K	MAGI1_ENST00000402939.2_Intron|MAGI1_ENST00000483466.1_Missense_Mutation_p.E823K|MAGI1_ENST00000497477.2_Intron	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	823	PDZ 4.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		GAATTGATTTCTCTCTCTCTC	0.398000													7	37					0	0	0.000274275	0	0
PSAPL1	768239	broad.mit.edu	37	4	7435758	7435758	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:7435758C>T	ENST00000319098.4	-	1	942	c.849G>A	c.(847-849)caG>caA	p.Q283Q	SORCS2_ENST00000511199.1_Intron|SORCS2_ENST00000507866.2_Intron|SORCS2_ENST00000329016.9_Intron	NM_001085382.1	NP_001078851.1	Q6NUJ1	SAPL1_HUMAN	prosaposin-like 1 (gene/pseudogene)	283					sphingolipid metabolic process	extracellular region|lysosome				lung(4)	4						GCATCTCGCTCTGTTTCCTTG	0.592000													5	18					0	0	0.000602214	0	0
JMJD1C	221037	broad.mit.edu	37	10	64954085	64954085	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:64954085G>A	ENST00000399262.2	-	14	5913	c.5695C>T	c.(5695-5697)Cac>Tac	p.H1899Y	JMJD1C_ENST00000402544.1_Missense_Mutation_p.H1680Y|JMJD1C_ENST00000542921.1_Missense_Mutation_p.H1717Y|JMJD1C_ENST00000399251.1_3'UTR	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1899					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					AAATGTTTGTGATCATGAGGC	0.338000													7	108					0	0	0.000442599	0	0
URGCP	55665	broad.mit.edu	37	7	43918118	43918118	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:43918118G>A	ENST00000336086.6	-	4	3051	c.815C>T	c.(814-816)tCc>tTc	p.S272F	URGCP_ENST00000447717.3_Missense_Mutation_p.S272F|URGCP_ENST00000453200.1_Missense_Mutation_p.S315F|URGCP_ENST00000223341.7_Missense_Mutation_p.S272F|URGCP_ENST00000443736.1_Missense_Mutation_p.S272F|URGCP_ENST00000402306.3_Missense_Mutation_p.S306F|URGCP_ENST00000497914.1_5'UTR|RP5-1165K10.1_ENST00000603700.1_Intron			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	315					cell cycle	centrosome|nucleus	GTP binding			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AAAAAACCAGGAAATTTCTAC	0.562000													6	50					0	0	0.00116845	0	0
PIGR	5284	broad.mit.edu	37	1	207110677	207110677	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:207110677G>A	ENST00000356495.4	-	4	991	c.808C>T	c.(808-810)Ctg>Ttg	p.L270L		NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	270	Ig-like V-type 3.					extracellular region|integral to plasma membrane	protein binding			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TGTCGGCACAGAAATTTGGCC	0.602000													5	31					0	0	0.000602214	0	0
LY75	4065	broad.mit.edu	37	2	160673493	160673493	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:160673493C>T	ENST00000263636.4	-	30	4231	c.4204G>A	c.(4204-4206)Gaa>Aaa	p.E1402K	LY75-CD302_ENST00000504764.1_Missense_Mutation_p.E1402K|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.E1402K|LY75_ENST00000554112.1_Missense_Mutation_p.E1402K|LY75_ENST00000553424.1_Missense_Mutation_p.E1402K	NM_002349.3	NP_002340.2			lymphocyte antigen 75											NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		ATACCATCTTCATATGGCATA	0.313000													31	53					0	0	0.00375469	0	0
MRC2	9902	broad.mit.edu	37	17	60741938	60741938	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:60741938G>A	ENST00000303375.5	+	2	550	c.148G>A	c.(148-150)Gga>Aga	p.G50R		NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	50	Ricin B-type lectin.				endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						CTTCAGCCATGGACTGCAGGG	0.627000													8	55					0	0	0.000274275	0	0
MAGEE1	57692	broad.mit.edu	37	X	75649401	75649401	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:75649401C>T	ENST00000361470.2	+	1	1356	c.1078C>T	c.(1078-1080)Ccc>Tcc	p.P360S		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	360	Pro-rich.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						ACTGCCAATCCCCGGTGAGGG	0.672000													7	16					0	0	0.00198382	0	0
TTN	7273	broad.mit.edu	37	2	179614661	179614661	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:179614661C>T	ENST00000360870.5	-	46	12688	c.12466G>A	c.(12466-12468)Gaa>Aaa	p.E4156K	TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000359218.5_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	3501							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)			TTTGGTGGTTCATTAGTAATA	0.393000													8	22					0	0	0.000274275	0	0
SYTL4	94121	broad.mit.edu	37	X	99955922	99955922	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:99955922C>T	ENST00000372981.1	-	5	696	c.510G>A	c.(508-510)aaG>aaA	p.K170K	SYTL4_ENST00000276141.6_Silent_p.K170K|SYTL4_ENST00000455616.1_Silent_p.K170K|SYTL4_ENST00000454200.2_Silent_p.K170K|SYTL4_ENST00000263033.5_Silent_p.K170K|SYTL4_ENST00000372989.1_Silent_p.K170K			Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	170					exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CCTGAATGATCTTTCTTCCTG	0.403000													65	61					0	0	0.00361006	0	0
CACNA1E	777	broad.mit.edu	37	1	181689349	181689349	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:181689349G>A	ENST00000526775.1	+	14	1924	c.1759G>A	c.(1759-1761)Gct>Act	p.A587T	CACNA1E_ENST00000367573.2_Missense_Mutation_p.A587T|CACNA1E_ENST00000367570.1_Missense_Mutation_p.A587T|CACNA1E_ENST00000367567.4_Missense_Mutation_p.A194T|CACNA1E_ENST00000357570.5_Missense_Mutation_p.A538T|CACNA1E_ENST00000360108.3_Missense_Mutation_p.A587T|CACNA1E_ENST00000358338.5_Missense_Mutation_p.A538T	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	587					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TAGGTATTGGGCTTCCCTACG	0.463000													9	32					0	0	0.000673444	0	0
SCAND3	114821	broad.mit.edu	37	6	28542481	28542481	+	Silent	SNP	T	T	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:28542481T>C	ENST00000452236.2	-	3	2618	c.2001A>G	c.(1999-2001)aaA>aaG	p.K667K		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	667					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						TTTTGGAAGGTTTAACAGGCA	0.438000													15	110					0	0	0.00400662	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43822244	43822244	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:43822244C>T	ENST00000389420.3	-	26	3744	c.3745G>A	c.(3745-3747)Gaa>Aaa	p.E1249K	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.E1249K|ADAMTS20_ENST00000395541.2_Missense_Mutation_p.E367K	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1249	TSP type-1 8.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		GGGCGAACTTCAGGATCACAG	0.468000													5	24					0	0	0.00116845	0	0
IL15RA	3601	broad.mit.edu	37	10	5995107	5995107	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:5995107C>T	ENST00000525219.2	-	7	941	c.647G>A	c.(646-648)gGg>gAg	p.G216E	IL15RA_ENST00000534292.1_5'UTR|IL15RA_ENST00000528354.1_Missense_Mutation_p.G219E|IL15RA_ENST00000397251.3_Missense_Mutation_p.G187E|IL15RA_ENST00000397250.2_Missense_Mutation_p.G154E|IL15RA_ENST00000397248.2_Missense_Mutation_p.G216E|IL15RA_ENST00000379977.3_Missense_Mutation_p.G252E	NM_001243539.1	NP_001230468.1	Q13261	I15RA_HUMAN	interleukin 15 receptor, alpha	252					cell proliferation	cytoplasmic vesicle membrane|endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane|nuclear membrane	cytokine receptor activity			cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5						GCTGCTGGTCCCCCAAGTCAC	0.552000													16	42					0	0	0.00188189	0	0
RGS17	26575	broad.mit.edu	37	6	153365070	153365070	+	Silent	SNP	A	A	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:153365070A>G	ENST00000367225.2	-	1	108	c.84T>C	c.(82-84)tgT>tgC	p.C28C	RGS17_ENST00000206262.1_Silent_p.C28C			Q9UGC6	RGS17_HUMAN	regulator of G-protein signaling 17	28	Poly-Cys.				negative regulation of signal transduction	cytoplasm|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(2)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	14		Ovarian(120;0.126)		OV - Ovarian serous cystadenocarcinoma(155;1.09e-09)|BRCA - Breast invasive adenocarcinoma(81;0.0429)		AACAAAAGCAACAGGTGTTGT	0.517000													12	41					0	0	0.00185496	0	0
CYLD	1540	broad.mit.edu	37	16	50785695	50785695	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:50785695C>T	ENST00000540145.1	+	5	1100	c.685C>T	c.(685-687)Cct>Tct	p.P229S	CYLD_ENST00000398568.2_Missense_Mutation_p.P229S|CYLD_ENST00000566206.1_Missense_Mutation_p.P229S|CYLD_ENST00000569418.1_Missense_Mutation_p.P229S|CYLD_ENST00000568704.2_Missense_Mutation_p.P229S|CYLD_ENST00000311559.9_Missense_Mutation_p.P229S|CYLD_ENST00000427738.3_Missense_Mutation_p.P229S|CYLD_ENST00000564326.1_Missense_Mutation_p.P229S			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	229	Interaction with TRIP.				cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				CGAACTTCCTCCTTTGGAAAT	0.413000			"""Mis, N, F, S"""		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis				6	14					0	0	0.00116845	0	0
ZSCAN5A	79149	broad.mit.edu	37	19	56734020	56734020	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:56734020C>T	ENST00000587340.1	-	6	1374	c.679G>A	c.(679-681)Gaa>Aaa	p.E227K	ZSCAN5A_ENST00000391713.1_Missense_Mutation_p.E227K|ZSCAN5A_ENST00000592355.1_Missense_Mutation_p.E227K|ZSCAN5A_ENST00000254165.3_Missense_Mutation_p.E110K|ZSCAN5A_ENST00000587492.1_Missense_Mutation_p.E81K			Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	227					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						TCCCTGTTTTCCTTCAGATCC	0.507000													18	55					0	0	0.00121646	0	0
TRAF3	7187	broad.mit.edu	37	14	103336546	103336546	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:103336546C>T	ENST00000560371.1	+	2	225	c.8C>T	c.(7-9)tCg>tTg	p.S3L	TRAF3_ENST00000392745.2_Missense_Mutation_p.S3L|TRAF3_ENST00000347662.4_Missense_Mutation_p.S3L|TRAF3_ENST00000539721.1_Missense_Mutation_p.S3L|TRAF3_ENST00000351691.5_Missense_Mutation_p.S3L	NM_003300.3|NM_145725.2	NP_003291.2|NP_663777.1	Q13114	TRAF3_HUMAN	TNF receptor-associated factor 3	3					apoptosis|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|regulation of defense response to virus|regulation of interferon-beta production|regulation of proteolysis|toll-like receptor signaling pathway|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|endosome|internal side of plasma membrane|mitochondrion	signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|liver(2)|lung(7)|ovary(1)|prostate(2)	30		all_cancers(154;7.87e-06)|all_epithelial(191;0.0024)		Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971)		AAAATGGAGTCGAGTAAAAAG	0.493000													21	63					0	0	0.00278032	0	0
TRMT11	60487	broad.mit.edu	37	6	126319784	126319784	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:126319784C>T	ENST00000334379.5	+	6	597	c.476C>T	c.(475-477)cCa>cTa	p.P159L	TRMT11_ENST00000450358.1_Missense_Mutation_p.P159L|TRMT11_ENST00000368332.3_Missense_Mutation_p.P159L	NM_001031712.2	NP_001026882.2	Q7Z4G4	TRM11_HUMAN	tRNA methyltransferase 11 homolog (S. cerevisiae)	159					tRNA processing		methyltransferase activity|nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(226;0.0356)		GGTTTAGACCCAAACTGCATC	0.338000													18	48					0	0	0.000958276	0	0
ARHGAP32	9743	broad.mit.edu	37	11	128839676	128839676	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:128839676T>A	ENST00000310343.9	-	22	5389	c.5390A>T	c.(5389-5391)gAt>gTt	p.D1797V	ARHGAP32_ENST00000527272.1_Missense_Mutation_p.D1448V|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.D1448V|ARHGAP32_ENST00000524655.1_3'UTR	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	1797	Interaction with FYN.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						TTTCCCAGGATCTGATTTACT	0.542000													9	62					0	0	0.000673444	0	0
OR51D1	390038	broad.mit.edu	37	11	4661402	4661402	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:4661402C>T	ENST00000357605.2	+	1	458	c.382C>T	c.(382-384)Ctg>Ttg	p.L128L		NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D, member 1	128					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTCAGCTGTCCTGCTGGCCAT	0.547000													5	29					0	0	0.000602214	0	0
WBSCR17	64409	broad.mit.edu	37	7	71130578	71130578	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:71130578G>A	ENST00000333538.5	+	7	1897	c.1263G>A	c.(1261-1263)ctG>ctA	p.L421L	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	421						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				ACCTGCCGCTGGAGGTAGGGA	0.478000													29	11					0	0	0.00283554	0	0
IL10RA	3587	broad.mit.edu	37	11	117869645	117869645	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:117869645C>T	ENST00000227752.3	+	7	1146	c.1026C>T	c.(1024-1026)ccC>ccT	p.P342P	IL10RA_ENST00000533700.1_3'UTR|IL10RA_ENST00000541785.1_Silent_p.P322P|IL10RA_ENST00000545409.1_Silent_p.P193P	NM_001558.3	NP_001549.2	Q13651	I10R1_HUMAN	interleukin 10 receptor, alpha	342						integral to membrane|plasma membrane	interleukin-10 receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		ACCCTCACCCCCAGGCTGACA	0.622000													4	18					0	0	0.00024832	0	0
BPI	671	broad.mit.edu	37	20	36940320	36940320	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:36940320G>A	ENST00000262865.4	+	5	682	c.593G>A	c.(592-594)cGa>cAa	p.R198Q	CTD-2308N23.2_ENST00000437016.1_RNA	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	198					defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding	p.R198Q(1)		kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				TCTGCGCTTCGAAACAAGATG	0.507000													7	35					0	0	0.00307968	0	0
BEST3	144453	broad.mit.edu	37	12	70048977	70048977	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:70048977C>T	ENST00000330891.5	-	10	1943	c.1717G>A	c.(1717-1719)Gaa>Aaa	p.E573K	BEST3_ENST00000331471.4_Intron|BEST3_ENST00000553096.1_Missense_Mutation_p.E467K|BEST3_ENST00000488961.1_Missense_Mutation_p.E360K	NM_032735.2	NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	573						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			AATATATTTTCCTCAGCGCTG	0.552000													7	25					0	0	0.00198382	0	0
FASN	2194	broad.mit.edu	37	17	80047517	80047517	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:80047517C>T	ENST00000306749.2	-	12	2174	c.1956G>A	c.(1954-1956)tcG>tcA	p.S652S		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	652	Acyl and malonyl transferases (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	CCTGAGGTCCCGAGATGGTGA	0.682000													4	5					0	0	0.000602214	0	0
FZD2	2535	broad.mit.edu	37	17	42636534	42636534	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:42636534C>T	ENST00000315323.3	+	1	1610	c.1478C>T	c.(1477-1479)tCg>tTg	p.S493L		NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN	frizzled family receptor 2	493					axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TGGGAGCGCTCGTGGGTGAGC	0.632000													10	20					0	0	0.000673444	0	0
ZNF318	24149	broad.mit.edu	37	6	43307388	43307388	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:43307388G>A	ENST00000361428.2	-	10	4425	c.4348C>T	c.(4348-4350)Cca>Tca	p.P1450S	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1450	Pro-rich.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			ggaggtggtggaggtgggggt	0.507000													8	29					0	0	0.00307968	0	0
CCNB3	85417	broad.mit.edu	37	X	50054033	50054033	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:50054033C>T	ENST00000376042.1	+	6	3162	c.2864C>T	c.(2863-2865)cCc>cTc	p.P955L	CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.P955L|CCNB3_ENST00000348603.2_Intron			Q8WWL7	CCNB3_HUMAN	cyclin B3	955					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)					CAAGAGAGTCCCACCTACAAG	0.483000													4	21					0	0	0.00024832	0	0
FAT3	120114	broad.mit.edu	37	11	92613902	92613902	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:92613902C>T	ENST00000298047.6	+	22	12150	c.12133C>T	c.(12133-12135)Cag>Tag	p.Q4045*	FAT3_ENST00000533797.1_Nonsense_Mutation_p.Q380*|FAT3_ENST00000525166.1_Nonsense_Mutation_p.Q3895*|FAT3_ENST00000409404.2_Nonsense_Mutation_p.Q4045*			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4045	EGF-like 2.				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)				CCCAGGCTATCAGTGTACCTG	0.502000										TCGA Ovarian(4;0.039)			31	128					0	0	0.00428921	0	0
BPIFB4	149954	broad.mit.edu	37	20	31692663	31692663	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:31692663C>T	ENST00000375483.3	+	14	1728	c.1728C>T	c.(1726-1728)ttC>ttT	p.F576F	BPIFB4_ENST00000494121.1_3'UTR	NM_182519.2	NP_872325.2	P59827	LPLC4_HUMAN	BPI fold containing family B, member 4	576						cytoplasm|extracellular region	lipid binding										ACCTGGCATTCATGCCCGCAA	0.582000													7	31					0	0	0.000442599	0	0
SCN8A	6334	broad.mit.edu	37	12	52162718	52162718	+	Missense_Mutation	SNP	G	G	A	rs80261247		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:52162718G>A	ENST00000354534.5	+	17	3149	c.2971G>A	c.(2971-2973)Gat>Aat	p.D991N	SCN8A_ENST00000545061.1_Missense_Mutation_p.D991N	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	991					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	CACAGATGACGATGGGGAAAT	0.507000													6	18					0	0	0.000274275	0	0
NRCAM	4897	broad.mit.edu	37	7	107872892	107872892	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:107872892C>T	ENST00000379028.3	-	7	775	c.305G>A	c.(304-306)gGa>gAa	p.G102E	NRCAM_ENST00000413765.2_Missense_Mutation_p.G102E|NRCAM_ENST00000379022.4_Missense_Mutation_p.G102E|NRCAM_ENST00000379024.4_Missense_Mutation_p.G102E|NRCAM_ENST00000425651.2_Missense_Mutation_p.G102E|NRCAM_ENST00000351718.4_Missense_Mutation_p.G96E			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	102	Ig-like 1.				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						TATGAGCGTTCCTGTGCCAGG	0.478000													12	62					0	0	0.00185496	0	0
CSMD2	114784	broad.mit.edu	37	1	34015872	34015872	+	Missense_Mutation	SNP	C	C	T	rs149704396	byFrequency	TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:34015872C>T	ENST00000373381.4	-	56	8998	c.8822G>A	c.(8821-8823)cGg>cAg	p.R2941Q		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2917	Sushi 21.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GCAGCTGTACCGCACCACTGC	0.597000													4	25					0	0	0.000602214	0	0
RGR	5995	broad.mit.edu	37	10	86007459	86007459	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:86007459G>A	ENST00000372092.3	+	2	147	c.142G>A	c.(142-144)Gat>Aat	p.D48N	RGR_ENST00000358110.5_Silent_p.G64G|RGR_ENST00000359452.4_Silent_p.G64G			P47804	RGR_HUMAN	retinal G protein coupled receptor	0					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity|protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	17						CGGACAGTGGGATCAGCCTGA	0.632000													18	30					0	0	0.00152264	0	0
ADAMDEC1	27299	broad.mit.edu	37	8	24254924	24254924	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:24254924G>A	ENST00000538205.1	+	7	892	c.345G>A	c.(343-345)ggG>ggA	p.G115G	RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAMDEC1_ENST00000522298.1_Silent_p.G115G|ADAMDEC1_ENST00000256412.4_Silent_p.G194G	NM_001145271.1	NP_001138743.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	194					integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		GCACTGACGGGAAACAAGGCC	0.448000													11	70					0	0	0.00244969	0	0
ZNF483	158399	broad.mit.edu	37	9	114304050	114304050	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:114304050G>A	ENST00000309235.5	+	6	993	c.835G>A	c.(835-837)Gga>Aga	p.G279R	ZNF483_ENST00000358151.4_Intron	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	279					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						CGGTAATCAGGGAAATTCAAA	0.423000													19	31					0	0	0.00152264	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70617386	70617386	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:70617386C>T	ENST00000260126.3	-	6	2208	c.1502G>A	c.(1501-1503)aGa>aAa	p.R501K	SLCO5A1_ENST00000530307.1_Missense_Mutation_p.R446K|SLCO5A1_ENST00000524945.1_Missense_Mutation_p.R501K	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	501						integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			TGCAGATTCTCTGGCACCAAG	0.423000													13	76					0	0	0.00316338	0	0
MYCT1	80177	broad.mit.edu	37	6	153019176	153019176	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:153019176G>A	ENST00000367245.5	+	1	147	c.139G>A	c.(139-141)Gat>Aat	p.D47N	MYCT1_ENST00000529453.1_Missense_Mutation_p.D47N	NM_025107.2	NP_079383.2	Q8N699	MYCT1_HUMAN	myc target 1	47						nucleus		p.D47N(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	20		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)		ATTTCTTGTGGATATTATGGC	0.313000													12	38					0	0	0.00185496	0	0
KCTD20	222658	broad.mit.edu	37	6	36449483	36449483	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:36449483C>T	ENST00000373731.2	+	6	1194	c.803C>T	c.(802-804)tCt>tTt	p.S268F	KCTD20_ENST00000544295.1_Missense_Mutation_p.S22F|KCTD20_ENST00000536244.1_Missense_Mutation_p.S123F|KCTD20_ENST00000449081.2_Missense_Mutation_p.S102F|KCTD20_ENST00000474988.1_3'UTR	NM_173562.3	NP_775833.2	Q7Z5Y7	KCD20_HUMAN	potassium channel tetramerization domain containing 20	268						voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|skin(1)	15						GATGAGGATTCTGTGGACTGG	0.502000													10	56					0	0	0.00185496	0	0
USH2A	7399	broad.mit.edu	37	1	215916657	215916657	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:215916657G>A	ENST00000366943.2	-	59	11796	c.11410C>T	c.(11410-11412)Cct>Tct	p.P3804S	USH2A_ENST00000307340.3_Missense_Mutation_p.P3804S			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3804	Fibronectin type-III 23.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.P3804S(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TACTCCACAGGAATTTCGGGG	0.403000										HNSCC(13;0.011)			8	76					0	0	0.000673444	0	0
CD22	933	broad.mit.edu	37	19	35832700	35832700	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:35832700C>A	ENST00000085219.5	+	9	1933	c.1867C>A	c.(1867-1869)Ccc>Acc	p.P623T	CD22_ENST00000419549.2_Missense_Mutation_p.P451T|CD22_ENST00000341773.6_Missense_Mutation_p.P446T|CD22_ENST00000270311.6_Missense_Mutation_p.P503T|CD22_ENST00000594250.1_Missense_Mutation_p.P446T|CD22_ENST00000544992.2_Missense_Mutation_p.P623T|CD22_ENST00000536635.2_Missense_Mutation_p.P535T	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	623	Ig-like C2-type 6.				cell adhesion		protein binding|sugar binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	CGCCAACCCTCCCGTCTCCCA	0.607000													5	12					0.00116845	0.00337487	0.00116845	1	0
KIAA0232	9778	broad.mit.edu	37	4	6863659	6863659	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:6863659C>T	ENST00000307659.5	+	7	2005	c.1550C>T	c.(1549-1551)tCc>tTc	p.S517F	KIAA0232_ENST00000425103.1_Missense_Mutation_p.S517F	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	517							ATP binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						ATTGATCAATCCATGTTGGAT	0.388000													9	33					0	0	0.000274275	0	0
CCDC173	129881	broad.mit.edu	37	2	170506900	170506900	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:170506900C>T	ENST00000447353.1	-	7	1196	c.1091G>A	c.(1090-1092)aGa>aAa	p.R364K		NM_001085447.1	NP_001078916.1			coiled-coil domain containing 173																		ATCTTTTTCTCTTTCTCTTTT	0.313000													12	53					0	0	0.000978159	0	0
PTPRG	5793	broad.mit.edu	37	3	61734565	61734565	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:61734565C>T	ENST00000474889.1	+	2	476	c.99C>T	c.(97-99)ggC>ggT	p.G33G	PTPRG_ENST00000495879.1_3'UTR|PTPRG_ENST00000295874.10_Silent_p.G33G	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	33					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		TGACAGAAGGCTACGTTGGGG	0.562000													6	15					0	0	0.00116845	0	0
NR2F1	7025	broad.mit.edu	37	5	92923755	92923755	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:92923755C>T	ENST00000327111.3	+	2	2283	c.596C>T	c.(595-597)cCc>cTc	p.P199L		NM_005654.4	NP_005645.1	P10589	COT1_HUMAN	nuclear receptor subfamily 2, group F, member 1	199					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	21		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)		GAGCCCTACCCCACGTCGCGC	0.657000													15	25					0	0	0.000566183	0	0
C1S	716	broad.mit.edu	37	12	7172537	7172537	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:7172537C>T	ENST00000406697.1	+	9	1279	c.651C>T	c.(649-651)acC>acT	p.T217T	C1S_ENST00000328916.3_Silent_p.T217T|C1S_ENST00000402681.3_Silent_p.T50T|C1S_ENST00000360817.5_Silent_p.T217T			P09871	C1S_HUMAN	complement component 1, s subcomponent	217	CUB 2.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	TGGTGGTGACCTTGCGGAGAG	0.478000													21	77					0	0	0.00106085	0	0
HGF	3082	broad.mit.edu	37	7	81386535	81386535	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:81386535G>A	ENST00000222390.5	-	4	678	c.452C>T	c.(451-453)cCc>cTc	p.P151L	HGF_ENST00000423064.2_Missense_Mutation_p.P151L|HGF_ENST00000453018.1_Missense_Mutation_p.P48L|HGF_ENST00000457544.2_Missense_Mutation_p.P151L|HGF_ENST00000354224.6_Missense_Mutation_p.P151L|HGF_ENST00000453411.1_Missense_Mutation_p.P151L|HGF_ENST00000444829.2_Missense_Mutation_p.P151L	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	151	Kringle 1.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						GGAACTCCAGGGCTGACATTT	0.398000													14	86					0	0	0.000566183	0	0
IGSF1	3547	broad.mit.edu	37	X	130411080	130411080	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:130411080C>T	ENST00000370904.1	-	20	3324	c.2414G>A	c.(2413-2415)gGa>gAa	p.G805E	IGSF1_ENST00000361420.3_Missense_Mutation_p.G814E|IGSF1_ENST00000370910.1_Missense_Mutation_p.G805E|IGSF1_ENST00000370903.3_Missense_Mutation_p.G819E|IGSF1_ENST00000467244.1_5'UTR			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	814	Ig-like C2-type 8.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						TATTTCACTTCCATCTTTGTA	0.522000													35	112					0	0	0.00327116	0	0
SARNP	84324	broad.mit.edu	37	12	56188603	56188603	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:56188603G>A	ENST00000444631.2	-	5	338	c.185C>T	c.(184-186)gCt>gTt	p.A62V	SARNP_ENST00000552080.1_Missense_Mutation_p.A122V|RP11-762I7.5_ENST00000546837.1_Silent_p.C434C|SARNP_ENST00000336133.3_Missense_Mutation_p.A122V					SAP domain containing ribonucleoprotein											breast(1)|endometrium(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	6						AGCTGCCCGAGCAGCTTTCTT	0.423000													9	34					0	0	0.000442599	0	0
PRKAG3	53632	broad.mit.edu	37	2	219695037	219695037	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:219695037C>T	ENST00000439262.2	-	4	317	c.222G>A	c.(220-222)ttG>ttA	p.L74L	PRKAG3_ENST00000392098.3_Silent_p.L99L|PRKAG3_ENST00000529249.1_Silent_p.L99L|PRKAG3_ENST00000545803.1_5'UTR	NM_017431.2	NP_059127.2	Q9UGI9	AAKG3_HUMAN	protein kinase, AMP-activated, gamma 3 non-catalytic subunit	99					cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation	cytosol	AMP-activated protein kinase activity|protein kinase binding			large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAGCTTGAGCCAAGGGTGTGG	0.637000													5	21					0	0	0.00116845	0	0
FLG	2312	broad.mit.edu	37	1	152283490	152283490	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:152283490G>A	ENST00000368799.1	-	3	3907	c.3872C>T	c.(3871-3873)tCc>tTc	p.S1291F	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1291	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)			atggtttctggaagCAGACCC	0.567000									Ichthyosis				25	62					0	0	0.00332997	0	0
RBBP6	5930	broad.mit.edu	37	16	24582974	24582974	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:24582974C>T	ENST00000319715.4	+	18	5019	c.4587C>T	c.(4585-4587)tcC>tcT	p.S1529S	RBBP6_ENST00000348022.2_Silent_p.S1495S|RBBP6_ENST00000381039.3_Silent_p.S689S	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	1529	Interaction with p53 (By similarity).				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		CAGGAGATTCCAAAAAAAGTA	0.378000													14	32					0	0	0.00185496	0	0
EXOC2	55770	broad.mit.edu	37	6	572625	572625	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:572625G>A	ENST00000230449.4	-	13	1473	c.1338C>T	c.(1336-1338)ccC>ccT	p.P446P	EXOC2_ENST00000448181.3_Silent_p.P41P	NM_018303.4	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	446					exocytosis|protein transport					breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		CCACCCTGTGGGGAGTTTTGT	0.443000													23	103					0	0	0.00395357	0	0
FLT1	2321	broad.mit.edu	37	13	29001422	29001422	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr13:29001422G>A	ENST00000282397.4	-	10	1561	c.1310C>T	c.(1309-1311)tCg>tTg	p.S437L	FLT1_ENST00000541932.1_Missense_Mutation_p.S437L|FLT1_ENST00000539099.1_Missense_Mutation_p.S437L	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	437	Ig-like C2-type 5.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	GTCTGGAAACGATGACACGGC	0.512000													6	16					0	0	0.00307968	0	0
UPF2	26019	broad.mit.edu	37	10	12077174	12077174	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:12077174C>T	ENST00000356352.2	-	1	722	c.249G>A	c.(247-249)gaG>gaA	p.E83E	UPF2_ENST00000460569.1_5'UTR|UPF2_ENST00000397053.2_Silent_p.E83E|UPF2_ENST00000357604.5_Silent_p.E83E			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	83	Glu/Lys-rich.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				ttgattcttcctCTGCCTTCA	0.408000													66	340					0	0	0.00361006	0	0
BFSP2	8419	broad.mit.edu	37	3	133118924	133118924	+	Translation_Start_Site	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:133118924G>A	ENST00000302334.2	+	0	86					NM_003571.2	NP_003562.1	Q13515	BFSP2_HUMAN	beaded filament structural protein 2, phakinin						response to stimulus|visual perception	cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						AGGCAGAAGGGGTGATGAGTG	0.622000													4	33					0	0	0.00024832	0	0
ARAP3	64411	broad.mit.edu	37	5	141036104	141036104	+	Silent	SNP	A	A	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:141036104A>G	ENST00000239440.4	-	27	3821	c.3756T>C	c.(3754-3756)cgT>cgC	p.R1252R	ARAP3_ENST00000513878.1_Silent_p.R914R|ARAP3_ENST00000512390.1_5'UTR|ARAP3_ENST00000508305.1_Silent_p.R1083R	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	1252	PH 3.				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						GGCAGCGGCCACGCAGCAGAA	0.642000													5	6					0	0	0.000602214	0	0
PCSK1	5122	broad.mit.edu	37	5	95757642	95757642	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:95757642C>T	ENST00000311106.3	-	5	799	c.562G>A	c.(562-564)Gat>Aat	p.D188N	CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000508626.1_Missense_Mutation_p.D141N	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	188	Catalytic.				cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TCATTAAAATCATAGCTAGCC	0.328000													31	123					0	0	0.00283554	0	0
C16orf62	57020	broad.mit.edu	37	16	19641094	19641094	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:19641094C>A	ENST00000438132.3	+	18	1821	c.1773C>A	c.(1771-1773)taC>taA	p.Y591*	C16orf62_ENST00000542263.1_Nonsense_Mutation_p.Y524*|C16orf62_ENST00000417362.2_Nonsense_Mutation_p.Y435*|C16orf62_ENST00000448695.1_Nonsense_Mutation_p.Y352*|C16orf62_ENST00000543152.1_Nonsense_Mutation_p.Y251*|C16orf62_ENST00000251143.5_Nonsense_Mutation_p.Y502*	NM_020314.5	NP_064710.4	Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	502						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						TGTAGGACTACATTAATTGTG	0.378000													17	43					0.000958276	0.00276979	0.000958276	1	0
THBS2	7058	broad.mit.edu	37	6	169632811	169632811	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:169632811C>T	ENST00000366787.3	-	13	2129	c.1880G>A	c.(1879-1881)aGa>aAa	p.R627K	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	627	EGF-like 2; calcium-binding (Potential).				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		CTGGTTCCCTCTGTATCGGGG	0.622000													7	27					0	0	0.00198382	0	0
GPR4	2828	broad.mit.edu	37	19	46094750	46094750	+	Silent	SNP	G	G	A	rs144692714		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:46094750G>A	ENST00000323040.4	-	2	1319	c.375C>T	c.(373-375)ttC>ttT	p.F125F	OPA3_ENST00000544371.1_Intron	NM_005282.2	NP_005273.1	P46093	GPR4_HUMAN	G protein-coupled receptor 4	125						integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		GCAGGCGGGCGAAGCGGAGTG	0.642000													5	15					0	0	0.000602214	0	0
KIAA1804	84451	broad.mit.edu	37	1	233512202	233512202	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:233512202G>A	ENST00000366624.3	+	8	2114	c.1853G>A	c.(1852-1854)aGt>aAt	p.S618N	MLK4_ENST00000366622.1_Missense_Mutation_p.S64N	NM_032435.2	NP_115811.2																					GATGGCAACAGTCCTTGGTCA	0.403000													8	48					0	0	0.000442599	0	0
SLC7A5	8140	broad.mit.edu	37	16	87873356	87873356	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:87873356G>A	ENST00000261622.4	-	5	956	c.891C>T	c.(889-891)ttC>ttT	p.F297F	SLC7A5_ENST00000565644.1_Silent_p.F31F	NM_003486.5	NP_003477.4	Q01650	LAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 5	297					blood coagulation|cell differentiation|cellular amino acid metabolic process|ion transport|leukocyte migration|nervous system development	apical plasma membrane|cytosol|integral to membrane	neutral amino acid transmembrane transporter activity|peptide antigen binding			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(80;0.049)		ACAGGGTGGTGAAGTAGGCCA	0.637000													4	11					0	0	0.000602214	0	0
SORCS3	22986	broad.mit.edu	37	10	106916913	106916913	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:106916913G>A	ENST00000369701.3	+	10	1727	c.1500G>A	c.(1498-1500)ggG>ggA	p.G500G		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	500						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)		GTATCAAAGGGATATTTCTGG	0.507000													9	26					0	0	0.000673444	0	0
MAPK15	225689	broad.mit.edu	37	8	144801552	144801552	+	Silent	SNP	C	C	T	rs146454342		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:144801552C>T	ENST00000338033.4	+	7	740	c.621C>T	c.(619-621)atC>atT	p.I207I	MAPK15_ENST00000395108.2_Silent_p.I207I|MAPK15_ENST00000395107.4_Silent_p.I224I	NM_139021.2	NP_620590.2	Q8TD08	MK15_HUMAN	mitogen-activated protein kinase 15	207	Protein kinase.				protein autophosphorylation	extracellular region	ATP binding|MAP kinase activity|SH3 domain binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12	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)			TGGGCTGTATCCTGGGGGAGA	0.652000													5	39					0	0	0.00116845	0	0
SVIL	6840	broad.mit.edu	37	10	29812863	29812863	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:29812863G>A	ENST00000375398.2	-	17	3129	c.2680C>T	c.(2680-2682)Ctt>Ttt	p.L894F	SVIL_ENST00000375400.3_Missense_Mutation_p.L468F|SVIL_ENST00000355867.4_Missense_Mutation_p.L894F			O95425	SVIL_HUMAN	supervillin	894					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)				TTTGTGCGAAGATCTCCGGCA	0.468000													16	56					0	0	0.000566183	0	0
MYLK	4638	broad.mit.edu	37	3	123512533	123512533	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:123512533G>A	ENST00000360772.3	-	5	534	c.156C>T	c.(154-156)ttC>ttT	p.F52F	MYLK_ENST00000359169.1_Silent_p.F52F|MYLK_ENST00000360304.3_Silent_p.F52F|MYLK_ENST00000346322.5_Silent_p.F52F|MYLK_ENST00000475616.1_Silent_p.F52F			Q15746	MYLK_HUMAN	myosin light chain kinase	52	Ig-like C2-type 1.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	p.F52F(2)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CCCGCCCTTCGAACTTGGCGG	0.602000													9	18					0	0	0.000442599	0	0
GNAS	2778	broad.mit.edu	37	20	57415441	57415441	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:57415441G>A	ENST00000313949.7	+	1	669	c.280G>A	c.(280-282)Gag>Aag	p.E94K	GNAS-AS1_ENST00000598163.1_RNA|GNAS-AS1_ENST00000443966.1_RNA|GNAS_ENST00000371075.3_Missense_Mutation_p.E94K|GNAS-AS1_ENST00000424094.2_RNA|GNAS_ENST00000371098.2_Missense_Mutation_p.E94K			P63092	GNAS2_HUMAN	GNAS complex locus	96					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GGCAGACCTTGAGCTGTCCCT	0.622000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)			6	27					0	0	0.00198382	0	0
TMEM189	387521	broad.mit.edu	37	20	48746086	48746086	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:48746086G>A	ENST00000557021.1	-	4	635	c.475C>T	c.(475-477)Cct>Tct	p.P159S	TMEM189_ENST00000371652.4_Missense_Mutation_p.P159S|TMEM189-UBE2V1_ENST00000341698.2_Missense_Mutation_p.P159S|TMEM189_ENST00000371650.5_Missense_Mutation_p.P156S|TMEM189_ENST00000371656.2_Missense_Mutation_p.P84S	NM_199203.2	NP_954673.1			transmembrane protein 189											breast(1)|endometrium(2)|large_intestine(3)|lung(2)	8			BRCA - Breast invasive adenocarcinoma(9;3.02e-07)			GTCTCACCAGGGCTGTGGGTG	0.617000													4	16					0	0	0.00116845	0	0
FOXP2	93986	broad.mit.edu	37	7	114282672	114282672	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:114282672G>A	ENST00000393500.3	+	13	1578	c.758G>A	c.(757-759)cGa>cAa	p.R253Q	FOXP2_ENST00000408937.3_Missense_Mutation_p.R353Q|FOXP2_ENST00000378237.3_Missense_Mutation_p.R328Q|FOXP2_ENST00000393498.2_Missense_Mutation_p.R307Q|FOXP2_ENST00000350908.4_Missense_Mutation_p.R328Q|FOXP2_ENST00000360232.4_Missense_Mutation_p.R328Q|FOXP2_ENST00000393494.2_Missense_Mutation_p.R328Q|FOXP2_ENST00000393491.3_Missense_Mutation_p.R236Q|FOXP2_ENST00000393489.3_Missense_Mutation_p.R236Q|FOXP2_ENST00000403559.4_Missense_Mutation_p.R345Q|FOXP2_ENST00000390668.3_Missense_Mutation_p.R352Q			O15409	FOXP2_HUMAN	forkhead box P2	328	Gln-rich.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						AGTGCAAGACGAGACAGGTAA	0.363000													10	72					0	0	0.000442599	0	0
UBN1	29855	broad.mit.edu	37	16	4927102	4927102	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:4927102C>T	ENST00000396658.4	+	15	3958	c.3255C>T	c.(3253-3255)ggC>ggT	p.G1085G	UBN1_ENST00000545171.1_Silent_p.G1085G|UBN1_ENST00000590769.1_Silent_p.G1085G|UBN1_ENST00000262376.6_Silent_p.G1085G	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	1085					chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						TCCACCATGGCCTTGGCCACA	0.582000													17	70					0	0	0.000958276	0	0
CACNA1E	777	broad.mit.edu	37	1	181764136	181764136	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:181764136A>G	ENST00000526775.1	+	44	6143	c.5978A>G	c.(5977-5979)cAc>cGc	p.H1993R	CACNA1E_ENST00000367573.2_Missense_Mutation_p.H2055R|CACNA1E_ENST00000367570.1_Missense_Mutation_p.H2012R|CACNA1E_ENST00000367567.4_Missense_Mutation_p.H1619R|CACNA1E_ENST00000357570.5_Missense_Mutation_p.H2006R|CACNA1E_ENST00000360108.3_Missense_Mutation_p.H2036R|CACNA1E_ENST00000358338.5_Missense_Mutation_p.H1944R	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	2055					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CGGAGTTACCACTCCTCCTTG	0.542000													8	46					0	0	0.000978159	0	0
SATL1	340562	broad.mit.edu	37	X	84363957	84363957	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:84363957C>T	ENST00000509231.1	-	1	97	c.18G>A	c.(16-18)acG>acA	p.T6T	SATL1_ENST00000332921.5_5'UTR|SATL1_ENST00000395409.3_5'UTR			Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1	61							N-acetyltransferase activity			NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						TTGATTGGTTCGTGCCTGATT	0.478000											OREG0019887	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	1					0	0	0.00024832	0	0
SBDS	51119	broad.mit.edu	37	7	66456124	66456124	+	Splice_Site	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:66456124G>A	ENST00000246868.2	-	4	807	c.624_splice	c.e4+1	p.I208_splice		NM_016038.2	NP_057122.2	Q9Y3A5	SBDS_HUMAN	Shwachman-Bodian-Diamond syndrome	208					bone marrow development|bone mineralization|leukocyte chemotaxis|mature ribosome assembly|mitotic spindle stabilization|positive regulation of translation|ribosomal large subunit biogenesis|rRNA processing	cytoplasm|nucleolus|nucleoplasm|spindle pole	microtubule binding|ribosome binding|rRNA binding			cervix(1)|endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	7						TGACTCTTACGATTTCTAACT	0.338000			Gene Conversion			"""AML, MDS"""			Shwachman-Diamond syndrome				10	86					0	0	0.000673444	0	0
TOP1MT	116447	broad.mit.edu	37	8	144391662	144391662	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:144391662C>T	ENST00000523676.1	-	15	1866	c.1461G>A	c.(1459-1461)cgG>cgA	p.R487R	TOP1MT_ENST00000521193.1_Silent_p.R487R|TOP1MT_ENST00000519148.1_Silent_p.R487R|TOP1MT_ENST00000329245.4_Silent_p.R585R			Q969P6	TOP1M_HUMAN	topoisomerase (DNA) I, mitochondrial	585					DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity			endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	CGAACCTCTCCCGCTGTGTTT	0.537000													15	76					0	0	0.00152264	0	0
TAC1	6863	broad.mit.edu	37	7	97361934	97361934	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:97361934C>T	ENST00000319273.5	+	2	307	c.10C>T	c.(10-12)Ctc>Ttc	p.L4F	TAC1_ENST00000350485.4_Missense_Mutation_p.L4F|TAC1_ENST00000346867.4_Missense_Mutation_p.L4F	NM_003182.2	NP_003173.1	P20366	TKN1_HUMAN	tachykinin, precursor 1	4					detection of abiotic stimulus|elevation of cytosolic calcium ion concentration|insemination|neuropeptide signaling pathway|synaptic transmission|tachykinin receptor signaling pathway	extracellular space				large_intestine(4)|lung(6)|urinary_tract(1)	11	all_cancers(62;3.95e-09)|all_epithelial(64;1.1e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0358)|all_lung(186;0.0384)				Bacitracin(DB00626)	CATGAAAATCCTCGTGGCCTT	0.438000													21	187					0	0	0.00188189	0	0
ARSF	416	broad.mit.edu	37	X	3002575	3002575	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:3002575G>A	ENST00000381127.1	+	6	919	c.698G>A	c.(697-699)tGg>tAg	p.W233*	ARSF_ENST00000537104.1_Nonsense_Mutation_p.W233*|ARSF_ENST00000359361.2_Nonsense_Mutation_p.W233*	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	233						extracellular region	arylsulfatase activity|metal ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGCTATGCTTGGTTCTCCAGC	0.547000													9	30					0	0	0.000978159	0	0
EXOC4	60412	broad.mit.edu	37	7	132973809	132973809	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:132973809T>C	ENST00000253861.4	+	3	439	c.410T>C	c.(409-411)gTg>gCg	p.V137A	EXOC4_ENST00000539845.1_Missense_Mutation_p.V36A|EXOC4_ENST00000393161.2_Missense_Mutation_p.V137A	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	137					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				ATCAAGCAAGTGCCTCAAAAG	0.453000													10	51					0	0	0.000442599	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144994641	144994641	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:144994641C>T	ENST00000369359.4	-	4	540	c.502G>A	c.(502-504)Gag>Aag	p.E168K	PDE4DIP_ENST00000313382.9_Missense_Mutation_p.E97K|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.E31K|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.E31K|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.E31K|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.E31K|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.E168K|PDE4DIP_ENST00000369347.4_Missense_Mutation_p.E31K|PDE4DIP_ENST00000369348.3_Missense_Mutation_p.E168K			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	31					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TGCATGCGCTCCTCCAGGAAG	0.592000			T	PDGFRB	MPD								6	93					0	0	0.00116845	0	0
FILIP1L	11259	broad.mit.edu	37	3	99567893	99567893	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:99567893C>T	ENST00000331335.5	-	5	3097	c.2627G>A	c.(2626-2628)gGa>gAa	p.G876E	FILIP1L_ENST00000476723.1_Intron|CMSS1_ENST00000421999.2_Intron|CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000487087.1_Missense_Mutation_p.G452E|FILIP1L_ENST00000383694.2_Missense_Mutation_p.G636E|FILIP1L_ENST00000471562.1_Missense_Mutation_p.G636E|FILIP1L_ENST00000354552.3_Missense_Mutation_p.G876E	NM_001042459.1	NP_001035924.1	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	876						cytoplasm|membrane|myosin complex|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						TTGCATTTTTCCATTCTGAAG	0.463000													19	63					0	0	0.00121646	0	0
ANKS1B	56899	broad.mit.edu	37	12	99145163	99145163	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:99145163G>A	ENST00000547776.2	-	25	3641	c.3642C>T	c.(3640-3642)ccC>ccT	p.P1214P	ANKS1B_ENST00000550693.2_Silent_p.P404P|ANKS1B_ENST00000546568.1_Silent_p.P380P|ANKS1B_ENST00000329257.7_Silent_p.P1214P|ANKS1B_ENST00000549558.2_Silent_p.P380P|ANKS1B_ENST00000549493.2_Silent_p.P464P|ANKS1B_ENST00000341752.7_Silent_p.P220P|ANKS1B_ENST00000549025.2_Silent_p.P312P|ANKS1B_ENST00000546960.1_Silent_p.P440P|ANKS1B_ENST00000332712.7_Silent_p.P404P|ANKS1B_ENST00000333732.7_Silent_p.P244P|ANKS1B_ENST00000547010.1_Silent_p.P730P|ANKS1B_ENST00000547446.1_Silent_p.P349P	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	1214						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		CGCGGGGCTTGGGGATGGGTT	0.493000													7	24					0	0	0.00307968	0	0
SPATA31E1	286234	broad.mit.edu	37	9	90500615	90500615	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:90500615C>T	ENST00000325643.5	+	4	1279	c.1213C>T	c.(1213-1215)Ccc>Tcc	p.P405S		NM_178828.4	NP_849150.3			SPATA31 subfamily E, member 1																		GACCCTAAATCCCTTCTGGAA	0.562000													17	15					0	0	0.000566183	0	0
FAT3	120114	broad.mit.edu	37	11	92085901	92085901	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:92085901C>G	ENST00000298047.6	+	1	640	c.623C>G	c.(622-624)cCc>cGc	p.P208R	FAT3_ENST00000541502.1_Missense_Mutation_p.P208R|FAT3_ENST00000525166.1_Missense_Mutation_p.P58R|FAT3_ENST00000409404.2_Missense_Mutation_p.P208R			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	208	Cadherin 2.				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)				TCAGTTCACCCCACGAGTGGT	0.398000										TCGA Ovarian(4;0.039)			5	215					0	0	0.00198382	0	0
POU2AF1	5450	broad.mit.edu	37	11	111228429	111228429	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:111228429G>A	ENST00000393067.3	-	4	711	c.197C>T	c.(196-198)tCc>tTc	p.S66F		NM_006235.2	NP_006226.2	Q16633	OBF1_HUMAN	POU class 2 associating factor 1	66					humoral immune response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|kidney(2)|lung(2)	5		all_cancers(61;1.36e-12)|all_epithelial(67;1.87e-07)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|all_neural(223;0.0146)|Medulloblastoma(222;0.0245)|Breast(348;0.0389)		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;3.12e-06)|all cancers(92;1.8e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0364)		GTCCAGGCAGGAAGGACCTGT	0.627000			T	BCL6	NHL								5	7					0	0	0.000602214	0	0
PCLO	27445	broad.mit.edu	37	7	82584293	82584293	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:82584293C>T	ENST00000423517.2	-	5	6313	c.5976G>A	c.(5974-5976)aaG>aaA	p.K1992K	PCLO_ENST00000333891.8_Silent_p.K1992K	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1923					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						AAAGTCTTATCTTTTGCTCTC	0.383000													27	208					0	0	0.001512	0	0
FOXK1	221937	broad.mit.edu	37	7	4780549	4780549	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:4780549C>T	ENST00000328914.4	+	2	641	c.641C>T	c.(640-642)cCg>cTg	p.P214L	FOXK1_ENST00000446823.1_Missense_Mutation_p.P51L	NM_001037165.1	NP_001032242.1	P85037	FOXK1_HUMAN	forkhead box K1	214					cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	p.P40L(1)|p.P214L(1)|p.P40Q(1)|p.P214Q(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		CCAGCCTCCCCGCTGCGGCCA	0.647000													15	67					0	0	0.00316338	0	0
OCM	654231	broad.mit.edu	37	7	5920543	5920543	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:5920543G>A	ENST00000242104.5	+	1	115	c.23G>A	c.(22-24)aGt>aAt	p.S8N	OCM_ENST00000416608.1_Missense_Mutation_p.S8N	NM_001097622.1	NP_001091091.1	P0CE72	ONCO_HUMAN	oncomodulin	8							calcium ion binding			endometrium(1)|large_intestine(3)|lung(2)	6		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0978)|OV - Ovarian serous cystadenocarcinoma(56;2.11e-14)		GACGTGCTCAGTGCTGACGAC	0.537000													13	71					0	0	0.00074312	0	0
CLSTN1	22883	broad.mit.edu	37	1	9804042	9804042	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:9804042G>A	ENST00000377298.4	-	9	2048	c.1256C>T	c.(1255-1257)tCc>tTc	p.S419F	CLSTN1_ENST00000377288.3_Missense_Mutation_p.S419F|CLSTN1_ENST00000361311.4_Missense_Mutation_p.S409F	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN	calsyntenin 1	419					homophilic cell adhesion	cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		GACATAGAGGGAGTAGTGGTG	0.448000													24	63					0	0	0.000720815	0	0
TENM1	10178	broad.mit.edu	37	X	123839007	123839007	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:123839007G>A	ENST00000422452.2	-	5	934	c.871C>T	c.(871-873)Cct>Tct	p.P291S	TENM1_ENST00000371130.3_Missense_Mutation_p.P291S	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		GGCCTGGGAGGGGGCGAGTAC	0.527000													10	45					0	0	0.000673444	0	0
ZDHHC23	254887	broad.mit.edu	37	3	113677249	113677249	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:113677249C>T	ENST00000330212.3	+	5	1379	c.1080C>T	c.(1078-1080)atC>atT	p.I360I	ZDHHC23_ENST00000498275.1_Silent_p.I354I|ZDHHC23_ENST00000488129.1_3'UTR	NM_173570.3	NP_775841.2	Q8IYP9	ZDH23_HUMAN	zinc finger, DHHC-type containing 23	360						integral to membrane	acyltransferase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|urinary_tract(2)	16						ACTCTGTGATCATCACAGCAG	0.522000													16	48					0	0	0.000958276	0	0
DNMT3B	1789	broad.mit.edu	37	20	31395599	31395599	+	Missense_Mutation	SNP	G	G	A	rs121908940		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:31395599G>A	ENST00000328111.2	+	23	2773	c.2452G>A	c.(2452-2454)Gtg>Atg	p.V818M	DNMT3B_ENST00000456297.2_Missense_Mutation_p.V659M|DNMT3B_ENST00000348286.2_Missense_Mutation_p.V735M|DNMT3B_ENST00000443239.3_Missense_Mutation_p.V693M|DNMT3B_ENST00000353855.2_Missense_Mutation_p.V798M|DNMT3B_ENST00000201963.3_Missense_Mutation_p.V810M|DNMT3B_ENST00000344505.4_Missense_Mutation_p.R758H	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	818			V -> M (in ICF).		negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CTACACAGACGTGTCCAACAT	0.582000													22	77					0	0	0.00188189	0	0
SIGLEC10	89790	broad.mit.edu	37	19	51914431	51914431	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:51914431G>A	ENST00000353836.5	-	10	1952	c.1731C>T	c.(1729-1731)ttC>ttT	p.F577F	SIGLEC10_ENST00000439889.2_Silent_p.F614F|SIGLEC10_ENST00000339313.5_Silent_p.F672F|SIGLEC10_ENST00000436984.2_Silent_p.F529F|SIGLEC10_ENST00000442846.3_Silent_p.F429F|SIGLEC10_ENST00000356298.5_Silent_p.F672F|SIGLEC10_ENST00000432469.2_Silent_p.F494F|SIGLEC10_ENST00000525998.1_Silent_p.F487F|SIGLEC10_ENST00000441969.3_Silent_p.F519F	NM_001171157.1|NM_001171158.1|NM_001171159.1	NP_001164628.1|NP_001164629.1|NP_001164630.1	Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	672					cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		TGACGCCTGGGAAGTTGAGCG	0.557000													15	63					0	0	0.00244969	0	0
PKD1L1	168507	broad.mit.edu	37	7	47969010	47969010	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:47969010C>T	ENST00000289672.2	-	7	901	c.851G>A	c.(850-852)cGa>cAa	p.R284Q		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	284					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						ATCAGAATTTCGAGCTAGGAT	0.537000													25	77					0	0	0.00395357	0	0
MYL4	4635	broad.mit.edu	37	17	45297383	45297383	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:45297383G>A	ENST00000354968.1	+	4	405	c.277G>A	c.(277-279)Gag>Aag	p.E93K	MYL4_ENST00000572316.1_Missense_Mutation_p.E93K|MYL4_ENST00000393450.1_Missense_Mutation_p.E93K	NM_001002841.1	NP_001002841.1	P12829	MYL4_HUMAN	myosin, light chain 4, alkali; atrial, embryonic	93					cardiac muscle contraction|muscle filament sliding|muscle organ development|positive regulation of ATPase activity|regulation of the force of heart contraction	A band|cytosol|muscle myosin complex	actin filament binding|actin monomer binding|calcium ion binding|myosin II heavy chain binding|structural constituent of muscle			endometrium(2)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)	11						TACCAATGCCGAGGTGCTGCG	0.617000													6	15					0	0	0.00307968	0	0
SSPO	23145	broad.mit.edu	37	7	149523216	149523216	+	RNA	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:149523216G>A	ENST00000378016.2	+	0	14302							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)			TCCAGTCCTTGGGCCTTGGTC	0.627000													10	28					0	0	0.000673444	0	0
CSMD1	64478	broad.mit.edu	37	8	3216752	3216752	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:3216752G>A	ENST00000602557.1	-	22	3784	c.3229C>T	c.(3229-3231)Cgt>Tgt	p.R1077C	CSMD1_ENST00000537824.1_Missense_Mutation_p.R1076C|CSMD1_ENST00000542608.1_Missense_Mutation_p.R1076C|CSMD1_ENST00000539096.1_Missense_Mutation_p.R1076C|CSMD1_ENST00000400186.3_Missense_Mutation_p.R1077C|CSMD1_ENST00000520002.1_Missense_Mutation_p.R1077C|CSMD1_ENST00000602723.1_Missense_Mutation_p.R1077C			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1077	Sushi 6.					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)		CCTTCTAAACGATATCCCAGG	0.557000													9	48					0	0	0.000673444	0	0
DOCK6	57572	broad.mit.edu	37	19	11348916	11348916	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:11348916G>A	ENST00000294618.7	-	15	1719	c.1708C>T	c.(1708-1710)Ctt>Ttt	p.L570F	C19orf80_ENST00000591200.1_Intron	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	570	DHR-1.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						CGCACAGCAAGGTTGCGCACG	0.667000													6	17					0	0	0.00116845	0	0
LILRA3	11026	broad.mit.edu	37	19	54803129	54803129	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:54803129G>A	ENST00000391745.1	-	8	915	c.599C>T	c.(598-600)tCc>tTc	p.S200F	LILRA3_ENST00000391744.3_Intron|LILRA3_ENST00000251390.3_Missense_Mutation_p.S183F					leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3											NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGGGCCCACGGAGAAGATGGC	0.572000													12	28					0	0	0.00185496	0	0
SV2B	9899	broad.mit.edu	37	15	91809816	91809816	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:91809816C>T	ENST00000394232.1	+	7	1483	c.1013C>T	c.(1012-1014)tCc>tTc	p.S338F	SV2B_ENST00000330276.4_Missense_Mutation_p.S338F|SV2B_ENST00000545111.2_Missense_Mutation_p.S187F	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	338					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			TTTCAGGTTTCCAACATCAAA	0.368000													38	132					0	0	0.00148497	0	0
P2RY2	5029	broad.mit.edu	37	11	72945942	72945942	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:72945942C>T	ENST00000311131.2	+	3	1205	c.738C>T	c.(736-738)acC>acT	p.T246T	P2RY2_ENST00000393597.2_Silent_p.T246T|P2RY2_ENST00000393596.2_Silent_p.T246T	NM_002564.2|NM_176072.1	NP_002555.2|NP_788086.1	P41231	P2RY2_HUMAN	purinergic receptor P2Y, G-protein coupled, 2	246					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	CCGTGCGCACCATCGCCGTGG	0.637000													5	31					0	0	0.00307968	0	0
CCDC176	80127	broad.mit.edu	37	14	74500775	74500775	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:74500775C>T	ENST00000394009.3	+	4	519	c.396C>T	c.(394-396)ttC>ttT	p.F132F	CCDC176_ENST00000553773.1_5'UTR|AC005484.5_ENST00000492026.1_RNA|CCDC176_ENST00000489323.1_Intron	NM_025057.2	NP_079333.2			coiled-coil domain containing 176																		AGGGACAGTTCCATCAAAAAG	0.378000													9	30					0	0	0.000442599	0	0
IL18RAP	8807	broad.mit.edu	37	2	103040388	103040388	+	Nonsense_Mutation	SNP	C	C	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:103040388C>G	ENST00000264260.2	+	4	777	c.188C>G	c.(187-189)tCa>tGa	p.S63*	IL18RAP_ENST00000409369.1_Intron	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	63					cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						AATCGACTCTCACCAAAACAA	0.438000													10	14					0	0	0.000442599	0	0
ZNF808	388558	broad.mit.edu	37	19	53057737	53057737	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:53057737G>T	ENST00000359798.4	+	5	1748	c.1568G>T	c.(1567-1569)cGg>cTg	p.R523L		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	523					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		TTCCGTCACCGGGCATCCCTT	0.443000													6	119					0.00198382	0.00572588	0.00198382	1	0
LMOD2	442721	broad.mit.edu	37	7	123302477	123302477	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:123302477C>T	ENST00000458573.2	+	2	994	c.837C>T	c.(835-837)ttC>ttT	p.F279F	LMOD2_ENST00000456238.2_Intron	NM_207163.1	NP_997046.1	Q6P5Q4	LMOD2_HUMAN	leiomodin 2 (cardiac)	279						cytoskeleton	actin binding|tropomyosin binding	p.F279F(1)									AGTCCAACTTCATAACGGGAA	0.552000													7	58					0	0	0.000673444	0	0
BCLAF1	9774	broad.mit.edu	37	6	136597560	136597560	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:136597560T>A	ENST00000531224.1	-	5	1355	c.1103A>T	c.(1102-1104)aAa>aTa	p.K368I	BCLAF1_ENST00000392348.2_Missense_Mutation_p.K366I|BCLAF1_ENST00000527536.1_Missense_Mutation_p.K368I|BCLAF1_ENST00000527759.1_Missense_Mutation_p.K366I|BCLAF1_ENST00000353331.4_Missense_Mutation_p.K366I|BCLAF1_ENST00000530767.1_Intron	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	368					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TGCCCTCCCTTTCTCTGATCC	0.423000													10	65					0	0	0.000978159	0	0
ASB5	140458	broad.mit.edu	37	4	177146477	177146477	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:177146477C>T	ENST00000296525.3	-	2	325	c.212G>A	c.(211-213)cGa>cAa	p.R71Q	ASB5_ENST00000511879.1_5'UTR|ASB5_ENST00000512254.1_Missense_Mutation_p.R18Q	NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box containing 5	71					intracellular signal transduction					endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		TAGTGGTGATCGATCTGCCCA	0.358000													13	45					0	0	0.00244969	0	0
ADAM9	8754	broad.mit.edu	37	8	38899577	38899577	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:38899577C>T	ENST00000487273.2	+	12	1321	c.1243C>T	c.(1243-1245)Ccc>Tcc	p.P415S		NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	ADAM metallopeptidase domain 9	415	Disintegrin.				activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway	extracellular space|integral to membrane|intrinsic to external side of plasma membrane	collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			CTATAGTGCTCCCTCCTGTGG	0.418000													20	105					0	0	0.00278032	0	0
BTBD3	22903	broad.mit.edu	37	20	11903564	11903564	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:11903564C>T	ENST00000405977.1	+	5	1444	c.819C>T	c.(817-819)ctC>ctT	p.L273L	BTBD3_ENST00000399006.2_Silent_p.L212L|BTBD3_ENST00000378226.2_Silent_p.L273L|BTBD3_ENST00000254977.3_Silent_p.L212L|BTBD3_ENST00000488503.1_3'UTR			Q9Y2F9	BTBD3_HUMAN	BTB (POZ) domain containing 3	273										breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2)	34						AAAGTATTCTCCGTAGGGAAA	0.483000													9	62					0	0	0.000442599	0	0
THRB	7068	broad.mit.edu	37	3	24185072	24185072	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:24185072C>T	ENST00000396671.2	-	8	1006	c.658G>A	c.(658-660)Gag>Aag	p.E220K	THRB_ENST00000416420.1_Missense_Mutation_p.E220K|THRB_ENST00000356447.4_Missense_Mutation_p.E220K|THRB_ENST00000280696.5_Missense_Mutation_p.E235K	NM_001128176.2	NP_001121648.1	P10828	THB_HUMAN	thyroid hormone receptor, beta	220					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3)	19					Levothyroxine(DB00451)|Liothyronine(DB00279)	TTGATGAGCTCCCATTCCTCG	0.562000													12	45					0	0	0.00316338	0	0
CEACAM20	125931	broad.mit.edu	37	19	45024608	45024608	+	RNA	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:45024608G>A	ENST00000454753.1	-	0	1208							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20							integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				GGCCATGGATGATTAGGGTCC	0.597000													20	117					0	0	0.00121646	0	0
ZNF80	7634	broad.mit.edu	37	3	113955375	113955375	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:113955375G>A	ENST00000482457.2	-	1	1050	c.547C>T	c.(547-549)Cac>Tac	p.H183Y		NM_007136.3	NP_009067.2	P51504	ZNF80_HUMAN	zinc finger protein 80	183						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32		Lung NSC(201;0.0233)|all_neural(597;0.0837)				TCTCCAGTGTGAATCTTCATG	0.493000													22	63					0	0	0.00395357	0	0
JAKMIP2	9832	broad.mit.edu	37	5	147040907	147040907	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:147040907G>A	ENST00000265272.5	-	3	698	c.231C>T	c.(229-231)ctC>ctT	p.L77L	JAKMIP2_ENST00000507386.1_Silent_p.L77L|JAKMIP2_ENST00000333010.6_Silent_p.L35L	NM_014790.3	NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	77						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTCCTCATGGAGCTTGGCTT	0.512000													21	77					0	0	0.00188189	0	0
MYRF	745	broad.mit.edu	37	11	61541529	61541529	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:61541529C>T	ENST00000278836.5	+	8	1302	c.1206C>T	c.(1204-1206)ttC>ttT	p.F402F	MYRF_ENST00000265460.5_Silent_p.F393F|TMEM258_ENST00000535042.1_5'UTR|MYRF_ENST00000327797.1_Silent_p.F29F	NM_001127392.1	NP_001120864.1			myelin regulatory factor																		AGAACCACTTCCAGGTGACAG	0.612000													7	22					0	0	0.000274275	0	0
MDGA1	266727	broad.mit.edu	37	6	37606016	37606016	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:37606016C>T	ENST00000434837.2	-	16	3919	c.2741G>A	c.(2740-2742)gGg>gAg	p.G914E	MDGA1_ENST00000297153.7_Missense_Mutation_p.G918E|MDGA1_ENST00000505425.1_Missense_Mutation_p.G914E	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	914	MAM.				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						GGGACACTCCCCCTTCTTCAG	0.592000													4	36					0	0	0.000602214	0	0
C5orf20	140947	broad.mit.edu	37	5	134782185	134782185	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:134782185G>A	ENST00000503143.2	-	1	853	c.614C>T	c.(613-615)tCg>tTg	p.S205L	TIFAB_ENST00000537858.1_3'UTR	NM_130848.2	NP_570900.1	Q8TF63	DCNP1_HUMAN	chromosome 5 open reading frame 20	205	Ser-rich.					nucleus				endometrium(1)|lung(1)|prostate(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TATCAAGTGCGAAGACCAGGC	0.537000													11	33					0	0	0.000673444	0	0
PRAME	23532	broad.mit.edu	37	22	22893196	22893196	+	Missense_Mutation	SNP	G	G	A	rs144751598		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr22:22893196G>A	ENST00000543184.1	-	3	1199	c.337C>T	c.(337-339)Cgc>Tgc	p.R113C	PRAME_ENST00000424204.2_Missense_Mutation_p.R97C|PRAME_ENST00000539862.1_Missense_Mutation_p.R97C|PRAME_ENST00000402697.1_Missense_Mutation_p.R113C|PRAME_ENST00000406503.1_Missense_Mutation_p.R113C|PRAME_ENST00000398743.2_Missense_Mutation_p.R113C|PRAME_ENST00000398741.1_Missense_Mutation_p.R113C|PRAME_ENST00000405655.3_Missense_Mutation_p.R113C|PRAME_ENST00000485532.1_5'UTR	NM_206953.1	NP_996836.1	P78395	PRAME_HUMAN	preferentially expressed antigen in melanoma	113					apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		TACCTGGGGCGAACCTCCTGG	0.602000													9	43					0	0	0.000978159	0	0
HERPUD2	64224	broad.mit.edu	37	7	35707140	35707140	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:35707140G>A	ENST00000396081.1	-	4	1202	c.398C>T	c.(397-399)gCt>gTt	p.A133V	HERPUD2_ENST00000311350.3_Missense_Mutation_p.A133V|HERPUD2_ENST00000426180.1_5'UTR	NM_022373.4	NP_071768.3	Q9BSE4	HERP2_HUMAN	HERPUD family member 2	133	Ser-rich.				response to unfolded protein	integral to membrane				kidney(3)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)	18						AGAACCCACAGCTAAAGACAA	0.398000													15	77					0	0	0.00316338	0	0
C11orf70	85016	broad.mit.edu	37	11	101946667	101946667	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:101946667C>T	ENST00000434758.2	+	5	527	c.499C>T	c.(499-501)Ctg>Ttg	p.L167L	C11orf70_ENST00000534360.1_3'UTR|C11orf70_ENST00000526781.1_Silent_p.L167L	NM_032930.2	NP_116319.2	Q9BRQ4	CK070_HUMAN	chromosome 11 open reading frame 70	167										breast(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|skin(2)	12	all_epithelial(12;0.0137)	Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.0137)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0335)		AGAAGAGTTCCTGTTTTGTCT	0.358000													12	82					0	0	0.00185496	0	0
VWA3B	200403	broad.mit.edu	37	2	98852918	98852918	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:98852918G>A	ENST00000477737.1	+	18	2698	c.2494G>A	c.(2494-2496)Gga>Aga	p.G832R		NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	832										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GACGCGAGAAGGAAGCCAGGT	0.423000													27	31					0	0	0.000720815	0	0
GJB4	127534	broad.mit.edu	37	1	35227593	35227593	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:35227593G>A	ENST00000339480.1	+	2	1108	c.738G>A	c.(736-738)gaG>gaA	p.E246E	RP1-34M23.5_ENST00000542839.1_RNA	NM_153212.2	NP_694944.1	Q9NTQ9	CXB4_HUMAN	gap junction protein, beta 4, 30.3kDa	246					cell communication	connexon complex|integral to membrane	gap junction channel activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				GGCACCCTGAGGATGGGAACT	0.617000													8	16					0	0	0.00307968	0	0
NF1	4763	broad.mit.edu	37	17	29533315	29533315	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:29533315C>T	ENST00000358273.4	+	12	1701	c.1318C>T	c.(1318-1320)Cga>Tga	p.R440*	NF1_ENST00000356175.3_Nonsense_Mutation_p.R440*|NF1_ENST00000431387.4_Nonsense_Mutation_p.R440*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	440					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(6)|p.R440*(3)|p.R440>?(2)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GGTTGAACTTCGAAATATGTT	0.398000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			37	46					0	0	0.000953801	0	0
HIVEP1	3096	broad.mit.edu	37	6	12120594	12120594	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:12120594C>T	ENST00000379388.2	+	4	898	c.566C>T	c.(565-567)cCc>cTc	p.P189L		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	189					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				ACTACGTCCCCCTCCTATACA	0.448000													10	73					0	0	0.000673444	0	0
PENK	5179	broad.mit.edu	37	8	57353980	57353980	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:57353980G>A	ENST00000314922.3	-	2	731	c.655C>T	c.(655-657)Cgc>Tgc	p.R219C	PENK_ENST00000523274.1_5'UTR|PENK_ENST00000451791.2_Missense_Mutation_p.R219C	NM_006211.3	NP_006202.1	P01210	PENK_HUMAN	proenkephalin	219					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			CACTCTGGGCGACCTACTCTT	0.532000													34	63					0	0	0.00170553	0	0
SEMA3E	9723	broad.mit.edu	37	7	83029428	83029428	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:83029428C>T	ENST00000307792.3	-	11	1749	c.1282G>A	c.(1282-1284)Gat>Aat	p.D428N	SEMA3E_ENST00000427262.1_Missense_Mutation_p.D368N	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	428	Sema.				axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				TATTTTCCATCTGTTTTTACC	0.403000													10	87					0	0	0.000978159	0	0
CFTR	1080	broad.mit.edu	37	7	117175426	117175426	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:117175426T>G	ENST00000003084.6	+	6	836	c.704T>G	c.(703-705)cTt>cGt	p.L235R	CFTR_ENST00000454343.1_Missense_Mutation_p.L235R	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	235	ABC transmembrane type-1 1.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	GTCCTTGCCCTTTTTCAGGCT	0.438000									Cystic Fibrosis				8	75					0	0	0.000274275	0	0
RP1	6101	broad.mit.edu	37	8	55541395	55541395	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:55541395C>T	ENST00000220676.1	+	4	5101	c.4953C>T	c.(4951-4953)acC>acT	p.T1651T		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1651					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)			CTGGGTCTACCCGCAAATCTC	0.378000													22	115					0	0	0.00188189	0	0
GK	2710	broad.mit.edu	37	X	30742289	30742289	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:30742289C>T	ENST00000378943.3	+	18	1734	c.1555C>T	c.(1555-1557)Cca>Tca	p.P519S	GK_ENST00000378946.3_Missense_Mutation_p.P525S|GK_ENST00000378945.3_Missense_Mutation_p.P519S|GK_ENST00000427190.1_Missense_Mutation_p.P320S|GK-AS1_ENST00000464659.1_RNA	NM_001128127.2	NP_001121599.1	P32189	GLPK_HUMAN	glycerol kinase	525					glycerol-3-phosphate metabolic process|triglyceride biosynthetic process	cytosol|mitochondrial outer membrane	ATP binding|glycerol kinase activity			central_nervous_system(1)|large_intestine(3)	4						AACTCAATCTCCAGAAAGTGG	0.313000													14	28					0	0	0.00400662	0	0
TRPV5	56302	broad.mit.edu	37	7	142630494	142630494	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:142630494G>A	ENST00000265310.1	-	1	411	c.63C>T	c.(61-63)tcC>tcT	p.S21S	TRPV5_ENST00000442623.1_Silent_p.S21S	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	21					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					TGACCAGAAAGGAGGGCAGAA	0.537000													14	71					0	0	0.00316338	0	0
CD33	945	broad.mit.edu	37	19	51729580	51729580	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:51729580C>T	ENST00000436584.2	+	3	387	c.332C>T	c.(331-333)cCa>cTa	p.P111L	CD33_ENST00000391796.3_Missense_Mutation_p.P238L|CD33_ENST00000262262.4_Missense_Mutation_p.P238L|CD33_ENST00000421133.2_Missense_Mutation_p.P111L			P20138	CD33_HUMAN	CD33 molecule	238	Ig-like V-type.				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	CCACAGAACCCAACAACTGGT	0.512000													5	43					0	0	0.00116845	0	0
OR2W5	441932	broad.mit.edu	37	1	247655249	247655249	+	RNA	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:247655249C>T	ENST00000522351.1	+	0	880							A6NFC9	OR2W5_HUMAN							sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-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)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			AGGGGAAGTTCCTGACTCTCT	0.512000													7	40					0	0	0.000274275	0	0
CUZD1	50624	broad.mit.edu	37	10	124595826	124595826	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:124595826T>C	ENST00000368904.1	-	8	1807	c.858A>G	c.(856-858)atA>atG	p.I286M	CUZD1_ENST00000392790.1_Missense_Mutation_p.I286M|CUZD1_ENST00000545804.1_Missense_Mutation_p.I286M			Q86UP6	CUZD1_HUMAN	CUB and zona pellucida-like domains 1	286	ZP.				cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation	integral to membrane|transport vesicle membrane|zymogen granule membrane				NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1)	39		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)		AGGATTTGCTTATAATAACTC	0.348000													6	29					0	0	0.00116845	0	0
HRC	3270	broad.mit.edu	37	19	49657866	49657866	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:49657866C>T	ENST00000252825.4	-	1	815	c.629G>A	c.(628-630)gGa>gAa	p.G210E	HRC_ENST00000595625.1_Missense_Mutation_p.G210E	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	210	4 X tandem repeats, acidic.|6 X approximate tandem repeats.				muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		GGCCTGGTGTCCATACTCAGT	0.587000													6	9					0	0	0.00116845	0	0
STARD13	90627	broad.mit.edu	37	13	33704318	33704318	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr13:33704318C>T	ENST00000336934.5	-	5	612	c.496G>A	c.(496-498)Gga>Aga	p.G166R	STARD13_ENST00000399365.3_Missense_Mutation_p.G48R|STARD13_ENST00000255486.4_Missense_Mutation_p.G158R	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	166					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		TTTCTGTCTCCTCGAGGGAGC	0.562000													4	12					0	0	0.00024832	0	0
CCL7	6354	broad.mit.edu	37	17	32598267	32598267	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:32598267C>T	ENST00000378569.2	+	2	249	c.179C>T	c.(178-180)cCc>cTc	p.P60L	CCL7_ENST00000394627.1_Missense_Mutation_p.P78S|CCL7_ENST00000394630.3_Intron|CCL7_ENST00000200307.4_Missense_Mutation_p.P70L	NM_006273.2	NP_006264.2	P80098	CCL7_HUMAN	chemokine (C-C motif) ligand 7	60					cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|immune response|inflammatory response|signal transduction	extracellular space	chemokine activity|heparin binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7	Breast(3;0.00224)	Breast(31;0.151)|Ovarian(249;0.17)		BRCA - Breast invasive adenocarcinoma(366;0.155)		AGCCACTGTCCCCGGGAAGCT	0.493000													8	39					0	0	0.000442599	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54676173	54676173	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:54676173G>A	ENST00000474759.1	+	11	1120	c.1072G>A	c.(1072-1074)Gga>Aga	p.G358R	CACNA2D3_ENST00000490478.1_Missense_Mutation_p.G264R|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.G358R|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.G358R	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	358	VWFA.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		CACGGGACAAGGAAGTATCTG	0.413000													6	16					0	0	0.00116845	0	0
THSD7A	221981	broad.mit.edu	37	7	11630095	11630095	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:11630095T>C	ENST00000423059.3	-	4	1696	c.1445A>G	c.(1444-1446)aAc>aGc	p.N482S		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	482	TSP type-1 4.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		ACCTTCTTTGTTCTTGTGGGT	0.493000										HNSCC(18;0.044)			4	34					0	0	0.000602214	0	0
TDRD5	163589	broad.mit.edu	37	1	179632540	179632540	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:179632540C>T	ENST00000444136.1	+	16	2813	c.2563C>T	c.(2563-2565)Ctt>Ttt	p.L855F	TDRD5_ENST00000367614.1_Missense_Mutation_p.L801F|TDRD5_ENST00000294848.8_Missense_Mutation_p.L801F	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	832					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						GCCTTCAGGCCTTGTAAATGG	0.398000													15	35					0	0	0.00400662	0	0
SULT1A1	6817	broad.mit.edu	37	16	28618084	28618084	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:28618084C>T	ENST00000395609.1	-	8	1350	c.592G>A	c.(592-594)Gag>Aag	p.E198K	SULT1A1_ENST00000395607.1_Missense_Mutation_p.E198K|SULT1A1_ENST00000569554.1_Missense_Mutation_p.E198K|SULT1A1_ENST00000350842.4_Missense_Mutation_p.E120K|SULT1A1_ENST00000314752.7_Missense_Mutation_p.E198K			P50225	ST1A1_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	198					3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity			endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2)	16						GGTCTCACCTCCTTCATGTCT	0.632000													8	29					0	0	0.000274275	0	0
OR4D2	124538	broad.mit.edu	37	17	56247303	56247303	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:56247303G>A	ENST00000545221.1	+	1	287	c.287G>A	c.(286-288)gGc>gAc	p.G96D		NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D, member 2	96					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						TCTTACCAGGGCTGCATGGGT	0.527000													12	74					0	0	0.00136819	0	0
NLGN4X	57502	broad.mit.edu	37	X	5950738	5950738	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:5950738C>T	ENST00000381093.2	-	3	989	c.526G>A	c.(526-528)Gac>Aac	p.D176N	NLGN4X_ENST00000538097.1_Intron|NLGN4X_ENST00000381095.3_Intron|NLGN4X_ENST00000381092.1_Intron|NLGN4X_ENST00000275857.6_Intron			Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	157					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						ATACCTTCGTCTTCACCACGG	0.343000													5	18					0	0	0.00307968	0	0
ANKRD55	79722	broad.mit.edu	37	5	55472069	55472069	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:55472069C>T	ENST00000341048.4	-	4	373	c.222G>A	c.(220-222)gcG>gcA	p.A74A	ANKRD55_ENST00000513241.2_Silent_p.A45A|ANKRD55_ENST00000504958.2_Silent_p.A74A	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55	73								p.A74A(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				TCACTGTGTCCGCTTGACGTC	0.493000													26	58					0	0	0.0024448	0	0
LRFN2	57497	broad.mit.edu	37	6	40399545	40399545	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:40399545G>A	ENST00000338305.6	-	2	1850	c.1308C>T	c.(1306-1308)gcC>gcT	p.A436A		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	436	Fibronectin type-III.					cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					ACTTGACCAGGGCCGAGGTGG	0.602000													10	52					0	0	0.000673444	0	0
TRIM55	84675	broad.mit.edu	37	8	67062683	67062683	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:67062683G>A	ENST00000315962.4	+	7	1340	c.967G>A	c.(967-969)Gaa>Aaa	p.E323K	TRIM55_ENST00000353317.5_Missense_Mutation_p.E323K|TRIM55_ENST00000276573.7_Missense_Mutation_p.E323K|TRIM55_ENST00000350034.4_Intron	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	323	COS.					cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			GATAATACGTGAAATTGACTT	0.423000													17	63					0	0	0.000958276	0	0
SPTA1	6708	broad.mit.edu	37	1	158617340	158617340	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:158617340G>A	ENST00000368148.3	-	27	4065	c.3885C>T	c.(3883-3885)ctC>ctT	p.L1295L	SPTA1_ENST00000368147.3_Silent_p.L1295L	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1295					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)					TGGCCTTGCTGAGGAACAGGT	0.527000													7	30					0	0	0.000274275	0	0
ANKRD36B	57730	broad.mit.edu	37	2	98195377	98195377	+	RNA	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:98195377C>T	ENST00000443455.1	-	0	865							Q8N2N9	AN36B_HUMAN	ankyrin repeat domain 36B																		ACACTCTATTCTCAGCCTCAC	0.333000													30	62					0	0	0.00327116	0	0
SSPO	23145	broad.mit.edu	37	7	149488688	149488688	+	RNA	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:149488688G>A	ENST00000378016.2	+	0	5139							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)			GTGGGCCCTGGGGCCAGGGCC	0.731000													5	0					0	0	0.00116845	0	0
NT5C1B	93034	broad.mit.edu	37	2	18764140	18764140	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:18764140G>A	ENST00000304081.4	-	6	1115	c.1015C>T	c.(1015-1017)Cac>Tac	p.H339Y	NT5C1B_ENST00000359846.2_Missense_Mutation_p.H399Y|NT5C1B_ENST00000600945.1_Missense_Mutation_p.H399Y|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.H399Y	NM_033253.3	NP_150278.2			5'-nucleotidase, cytosolic IB											endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				TTACCGTAGTGATTGACGCTG	0.413000													26	40					0	0	0.00178596	0	0
SCAND3	114821	broad.mit.edu	37	6	28543486	28543486	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:28543486C>T	ENST00000452236.2	-	3	1613	c.996G>A	c.(994-996)gcG>gcA	p.A332A		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	332					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						TCTTGTATTTCGCTTGTAACT	0.378000													21	165					0	0	0.00188189	0	0
DSEL	92126	broad.mit.edu	37	18	65179113	65179113	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:65179113G>A	ENST00000310045.7	-	2	4236	c.2763C>T	c.(2761-2763)atC>atT	p.I921I	CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	911						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				GCCCACTGCGGATATCTGACA	0.433000													53	30					0	0	0.00361006	0	0
FGF12	2257	broad.mit.edu	37	3	192078232	192078232	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:192078232C>T	ENST00000454309.2	-	2	1120	c.295G>A	c.(295-297)Gaa>Aaa	p.E99K	FGF12_ENST00000450716.1_Missense_Mutation_p.E37K|FGF12_ENST00000430714.1_Intron|FGF12_ENST00000445105.1_Missense_Mutation_p.E37K|FGF12_ENST00000264730.3_Missense_Mutation_p.E37K	NM_021032.4	NP_066360.1	P61328	FGF12_HUMAN	fibroblast growth factor 12	99					cell-cell signaling|heart development|JNK cascade|nervous system development|signal transduction	extracellular space|nucleus	growth factor activity|heparin binding			endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)		TCGCTGTTTTCGTCCTTGGTC	0.443000													6	43					0	0	0.00116845	0	0
TACC2	10579	broad.mit.edu	37	10	123971130	123971130	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:123971130C>T	ENST00000369005.1	+	9	7530	c.7190C>T	c.(7189-7191)tCc>tTc	p.S2397F	TACC2_ENST00000360561.3_Missense_Mutation_p.S475F|TACC2_ENST00000334433.3_Missense_Mutation_p.S2397F|TACC2_ENST00000513429.1_Missense_Mutation_p.S543F|TACC2_ENST00000358010.1_Missense_Mutation_p.S543F|TACC2_ENST00000368999.1_Missense_Mutation_p.S475F|TACC2_ENST00000369004.3_Missense_Mutation_p.S475F|TACC2_ENST00000369000.1_Missense_Mutation_p.S101F|TACC2_ENST00000515273.1_Missense_Mutation_p.S2401F|TACC2_ENST00000260733.3_Missense_Mutation_p.S475F|TACC2_ENST00000369001.1_Missense_Mutation_p.S101F|TACC2_ENST00000453444.2_Missense_Mutation_p.S2401F|TACC2_ENST00000515603.1_Missense_Mutation_p.S2352F	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2397	SPAZ.					microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				TCCCCAGCCTCCTTTGAGATC	0.512000													10	23					0	0	0.000442599	0	0
CNGA2	1260	broad.mit.edu	37	X	150906984	150906984	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:150906984G>A	ENST00000329903.4	+	1	62	c.29G>A	c.(28-30)aGc>aAc	p.S10N		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	10					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					GGTGTGAAGAGCTCCCCAGCC	0.512000													21	49					0	0	0.000720815	0	0
C6orf203	51250	broad.mit.edu	37	6	107365516	107365516	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:107365516T>G	ENST00000443043.1	+	4	1213	c.538T>G	c.(538-540)Tta>Gta	p.L180V	C6orf203_ENST00000311381.5_Missense_Mutation_p.L175V|C6orf203_ENST00000405204.2_Missense_Mutation_p.L175V	NM_001142470.1	NP_001135942.1	Q9P0P8	CF203_HUMAN	chromosome 6 open reading frame 203	175										large_intestine(4)|lung(2)|prostate(1)|urinary_tract(1)	8	Breast(9;0.00124)|all_epithelial(6;0.0729)	all_cancers(87;0.00461)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|Colorectal(196;0.171)|all_epithelial(87;0.23)	BRCA - Breast invasive adenocarcinoma(8;0.000395)|all cancers(7;0.00065)|Epithelial(6;0.000834)|OV - Ovarian serous cystadenocarcinoma(5;0.244)	BRCA - Breast invasive adenocarcinoma(108;0.117)		TGAGGAAAAATTATGGAAGAA	0.373000													22	65					0	0	0.00395357	0	0
SPTA1	6708	broad.mit.edu	37	1	158589113	158589113	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:158589113C>T	ENST00000368148.3	-	45	6609	c.6429G>A	c.(6427-6429)caG>caA	p.Q2143Q	SPTA1_ENST00000368147.3_Silent_p.Q2140Q	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	2143					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)					TTTGCAGCTCCTGCTCCCGTT	0.453000													13	75					0	0	0.00244969	0	0
KLHL6	89857	broad.mit.edu	37	3	183217466	183217466	+	Silent	SNP	G	G	A	rs3732586	by1000genomes	TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:183217466G>A	ENST00000341319.3	-	4	1094	c.1059C>T	c.(1057-1059)ctC>ctT	p.L353L		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	353										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)			CTGTTAGCGGGAGCTTGGCCA	0.547000													16	43					0	0	0.000958276	0	0
POP1	10940	broad.mit.edu	37	8	99148749	99148749	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:99148749G>A	ENST00000401707.2	+	8	1132	c.1051G>A	c.(1051-1053)Gaa>Aaa	p.E351K	POP1_ENST00000349693.3_Missense_Mutation_p.E351K	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)	351					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			CCAGTGTGTGGAACCCATCAA	0.358000													19	155					0	0	0.00332997	0	0
DLEC1	9940	broad.mit.edu	37	3	38136470	38136470	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:38136470G>A	ENST00000308059.6	+	13	2041	c.2020G>A	c.(2020-2022)Gac>Aac	p.D674N	DLEC1_ENST00000452631.2_Missense_Mutation_p.D674N|DLEC1_ENST00000346219.3_Missense_Mutation_p.D674N			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	674					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		GTGCTACCCCGACAAGGAGAC	0.552000													8	28					0	0	0.00307968	0	0
NAMPT	10135	broad.mit.edu	37	7	105913022	105913022	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:105913022A>G	ENST00000222553.3	-	4	708	c.401T>C	c.(400-402)gTg>gCg	p.V134A	NAMPT_ENST00000484527.1_5'UTR|NAMPT_ENST00000354289.4_Missense_Mutation_p.V134A	NM_005746.2	NP_005737.1	P43490	NAMPT_HUMAN	nicotinamide phosphoribosyltransferase	134					cell-cell signaling|NAD biosynthetic process|nicotinamide metabolic process|positive regulation of cell proliferation|positive regulation of nitric-oxide synthase biosynthetic process|signal transduction|water-soluble vitamin metabolic process	cytosol	cytokine activity|nicotinamide phosphoribosyltransferase activity|nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						TGTGTTTTCCACCGTGAAGAG	0.353000													6	85					0	0	0.00116845	0	0
PLA2G3	50487	broad.mit.edu	37	22	31536267	31536267	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr22:31536267C>T	ENST00000215885.3	-	1	326	c.74G>A	c.(73-75)cGc>cAc	p.R25H		NM_015715.3	NP_056530.2	Q9NZ20	PA2G3_HUMAN	phospholipase A2, group III	25					cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						CCTGTACCAGCGGAGGGCAGG	0.657000													5	19					0	0	0.000602214	0	0
UTRN	7402	broad.mit.edu	37	6	144812176	144812176	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:144812176C>T	ENST00000367545.3	+	31	4375	c.4375C>T	c.(4375-4377)Cac>Tac	p.H1459Y		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1459	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		AGCAGAACTTCACGTTCTGGA	0.522000													15	56					0	0	0.00244969	0	0
ADAM28	10863	broad.mit.edu	37	8	24187543	24187543	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:24187543G>A	ENST00000265769.4	+	11	1128	c.1018G>A	c.(1018-1020)Gaa>Aaa	p.E340K	ADAM28_ENST00000540823.1_Missense_Mutation_p.E107K|RP11-624C23.1_ENST00000518988.1_RNA|ADAM28_ENST00000437154.2_Missense_Mutation_p.E340K|RP11-624C23.1_ENST00000519689.1_RNA|ADAM28_ENST00000397649.3_Missense_Mutation_p.E87K|RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000518516.1_3'UTR|RP11-624C23.1_ENST00000523700.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	340	Peptidase M12B.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		AATGGCACATGAAATGGGCCA	0.408000													13	47					0	0	0.00400662	0	0
PARD3	56288	broad.mit.edu	37	10	34648195	34648195	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:34648195G>A	ENST00000374789.3	-	14	2272	c.1947C>T	c.(1945-1947)tcC>tcT	p.S649S	PARD3_ENST00000545693.1_Silent_p.S636S|PARD3_ENST00000545260.1_Silent_p.S592S|PARD3_ENST00000374788.3_Silent_p.S649S|PARD3_ENST00000544292.1_Silent_p.S366S|PARD3_ENST00000374776.1_Silent_p.S636S|PARD3_ENST00000374773.1_Silent_p.S649S|PARD3_ENST00000346874.4_Silent_p.S649S|PARD3_ENST00000374790.3_Silent_p.S592S|PARD3_ENST00000350537.4_Silent_p.S636S|PARD3_ENST00000374768.1_Silent_p.S87S|PARD3_ENST00000340077.5_Silent_p.S649S|PARD3_ENST00000374794.3_Silent_p.S592S	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	649	PDZ 3.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				TGCCCAACAGGGATTCTCCAT	0.413000													26	66					0	0	0.000720815	0	0
SYCP1	6847	broad.mit.edu	37	1	115399263	115399263	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:115399263G>A	ENST00000369522.3	+	3	418	c.178G>A	c.(178-180)Gaa>Aaa	p.E60K	SYCP1_ENST00000369518.1_Missense_Mutation_p.E60K	NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	60	Asp/Glu-rich (acidic).				cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAAAAATGGGGAAAACATTGA	0.318000													40	57					0	0	0.00148497	0	0
ZNF549	256051	broad.mit.edu	37	19	58050249	58050249	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:58050249A>G	ENST00000376233.3	+	4	2058	c.1877A>G	c.(1876-1878)tAt>tGt	p.Y626C	ZNF549_ENST00000602149.1_Intron|ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000240719.3_Missense_Mutation_p.Y613C|ZNF549_ENST00000594943.1_Intron	NM_001199295.1	NP_001186224.1	Q6P9A3	ZN549_HUMAN	zinc finger protein 549	626					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AACAAAAGATATTCCCTTGTC	0.418000													19	34					0	0	0.00152264	0	0
GIMAP6	474344	broad.mit.edu	37	7	150325013	150325013	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:150325013C>T	ENST00000328902.5	-	3	889	c.673G>A	c.(673-675)Gaa>Aaa	p.E225K	GIMAP6_ENST00000493969.1_3'UTR	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	225							GTP binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCTTCGTTTTCCCACATAATG	0.517000													14	151					0	0	0.00400662	0	0
PRMT8	56341	broad.mit.edu	37	12	3701474	3701474	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:3701474G>A	ENST00000382622.3	+	9	1447	c.1057G>A	c.(1057-1059)Gaa>Aaa	p.E353K	PRMT8_ENST00000452611.2_Missense_Mutation_p.E344K|PRMT8_ENST00000261252.4_3'UTR	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	353					regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			GAGGGGGGAGGAAATCTACGG	0.552000													5	28					0	0	0.00116845	0	0
SYT1	6857	broad.mit.edu	37	12	79679637	79679637	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:79679637C>T	ENST00000261205.4	+	5	894	c.237C>T	c.(235-237)atC>atT	p.I79I	SYT1_ENST00000393240.3_Silent_p.I79I|SYT1_ENST00000457153.2_Silent_p.I79I|SYT1_ENST00000552744.1_Silent_p.I79I	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	79					detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						GCTTTTGTATCTGTAAGAAAT	0.403000													10	35					0	0	0.000673444	0	0
NCF1B	654816	broad.mit.edu	37	7	72639931	72639931	+	RNA	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:72639931G>A	ENST00000423083.1	+	0	158					NR_003186.1																						CTCCCAAGTGGTTTGACGGGC	0.667000													6	23					0	0	0.000442599	0	0
TRAT1	50852	broad.mit.edu	37	3	108549601	108549601	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:108549601C>T	ENST00000295756.6	+	2	322	c.92C>T	c.(91-93)tCc>tTc	p.S31F	TRAT1_ENST00000426646.1_Intron|TRAT1_ENST00000493604.1_3'UTR	NM_016388.2	NP_057472.2	Q6PIZ9	TRAT1_HUMAN	T cell receptor associated transmembrane adaptor 1	31					cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity	p.S31F(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						TTCAATATTTCCCACTATGTG	0.408000													16	68					0	0	0.000958276	0	0
RALBP1	10928	broad.mit.edu	37	18	9533713	9533713	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:9533713C>T	ENST00000019317.4	+	9	1813	c.1590C>T	c.(1588-1590)caC>caT	p.H530H	RALBP1_ENST00000383432.3_Silent_p.H530H			Q15311	RBP1_HUMAN	ralA binding protein 1	530					chemotaxis|positive regulation of Cdc42 GTPase activity|small GTPase mediated signal transduction|transport	cytosol|membrane	ATPase activity, coupled to movement of substances|Rac GTPase activator activity|Rac GTPase binding|Ral GTPase binding	p.H530H(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	14						GCCAGCAGCACGGCCGAAGTG	0.512000													30	36					0	0	0.00209593	0	0
EFHB	151651	broad.mit.edu	37	3	19924107	19924107	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:19924107G>A	ENST00000295824.9	-	12	2424	c.2263C>T	c.(2263-2265)Cct>Tct	p.P755S	EFHB_ENST00000344838.4_Missense_Mutation_p.P625S	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B	755					signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						AAAATGGTAGGATATAGTAGT	0.393000													6	17					0	0	0.00116845	0	0
GIMAP8	155038	broad.mit.edu	37	7	150174354	150174354	+	Missense_Mutation	SNP	C	C	T	rs138720266		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:150174354C>T	ENST00000307271.3	+	5	2058	c.1484C>T	c.(1483-1485)cCt>cTt	p.P495L		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	495						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		GTGGACACTCCTTCCTTCAAC	0.562000													5	67					0	0	0.00198382	0	0
CSMD1	64478	broad.mit.edu	37	8	3889615	3889615	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:3889615G>A	ENST00000602557.1	-	4	977	c.422C>T	c.(421-423)cCt>cTt	p.P141L	CSMD1_ENST00000537824.1_Missense_Mutation_p.P141L|CSMD1_ENST00000542608.1_Missense_Mutation_p.P141L|CSMD1_ENST00000539096.1_Missense_Mutation_p.P141L|CSMD1_ENST00000400186.3_Missense_Mutation_p.P141L|CSMD1_ENST00000520002.1_Missense_Mutation_p.P141L|CSMD1_ENST00000602723.1_Missense_Mutation_p.P141L			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	141						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)		AGTGTGGCTAGGTAAAACTAT	0.383000													9	39					0	0	0.000673444	0	0
FCRLA	84824	broad.mit.edu	37	1	161683078	161683078	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:161683078G>A	ENST00000367959.2	+	6	1299	c.1057G>A	c.(1057-1059)Gat>Aat	p.D353N	FCRLA_ENST00000294796.4_Missense_Mutation_p.D196N|FCRLA_ENST00000236938.6_Missense_Mutation_p.D347N|FCRLA_ENST00000309691.6_Missense_Mutation_p.D241N|FCRLA_ENST00000367957.2_Missense_Mutation_p.D207N|FCRLA_ENST00000367949.2_Missense_Mutation_p.D163N|FCRLA_ENST00000367950.1_Missense_Mutation_p.D123N|FCRLA_ENST00000367953.3_Missense_Mutation_p.D336N|FCRLA_ENST00000350710.3_Missense_Mutation_p.D112N|FCRLA_ENST00000546024.1_Missense_Mutation_p.D258N|FCRLA_ENST00000540521.1_Missense_Mutation_p.D213N|FCRLA_ENST00000540926.1_Missense_Mutation_p.D336N|FCRLA_ENST00000349527.4_Missense_Mutation_p.D235N|FCRLA_ENST00000470841.1_3'UTR	NM_001184866.1	NP_001171795.1	Q7L513	FCRLA_HUMAN	Fc receptor-like A	330					cell differentiation	cytoplasm|extracellular region				breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			ACACATGCAGGATGTGAGAGT	0.522000													8	39					0	0	0.000274275	0	0
MARCO	8685	broad.mit.edu	37	2	119750850	119750850	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:119750850G>A	ENST00000541757.1	+	17	1549	c.1169G>A	c.(1168-1170)gGa>gAa	p.G390E	MARCO_ENST00000327097.4_Missense_Mutation_p.G468E			Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	468	Collagen-like.				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						TACTCCAAAGGAAGGGCCCTG	0.547000													19	35					0	0	0.00188189	0	0
BAZ2A	11176	broad.mit.edu	37	12	57000471	57000471	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:57000471C>T	ENST00000179765.5	-	12	2248	c.2049G>A	c.(2047-2049)aaG>aaA	p.K683K	BAZ2A_ENST00000551812.1_Silent_p.K715K|BAZ2A_ENST00000549884.1_Silent_p.K713K|BAZ2A_ENST00000379441.3_Silent_p.K685K			Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	715	Lys-rich.				chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						GCCTCATCTTCTTCTTGCTTT	0.428000													67	242					0	0	0.00361006	0	0
NOBOX	135935	broad.mit.edu	37	7	144097406	144097406	+	Splice_Site	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:144097406C>T	ENST00000467773.1	-	5	844		c.e5-1		NOBOX_ENST00000223140.5_Splice_Site|NOBOX_ENST00000483238.1_Splice_Site	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox						cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					TCCAGCTGATCTGAAAGAAGA	0.517000													5	60					0	0	0.00307968	0	0
STS	412	broad.mit.edu	37	X	7171259	7171259	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:7171259C>T	ENST00000217961.4	+	2	254	c.34C>T	c.(34-36)Cta>Tta	p.L12L		NM_000351.4	NP_000342.2	P08842	STS_HUMAN	steroid sulfatase (microsomal), isozyme S	12					female pregnancy|steroid catabolic process	endoplasmic reticulum membrane|endosome|Golgi apparatus|integral to membrane|lysosome|microsome|plasma membrane	metal ion binding|steryl-sulfatase activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1)	27		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)			Estrone(DB00655)	CCCTTTCCTCCTACTGTTCTT	0.522000									Ichthyosis				8	6					0	0	0.000274275	0	0
RAB2A	5862	broad.mit.edu	37	8	61496781	61496781	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:61496781C>T	ENST00000262646.7	+	4	552	c.201C>T	c.(199-201)tcC>tcT	p.S67S	RAB2A_ENST00000531289.1_Silent_p.S43S|RAB2A_ENST00000530071.1_3'UTR|RAB2A_ENST00000529579.1_Silent_p.S67S	NM_002865.2	NP_002856.1	P61019	RAB2A_HUMAN	RAB2A, member RAS oncogene family	67					ER to Golgi vesicle-mediated transport|protein transport|small GTPase mediated signal transduction	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|melanosome	GDP binding|GTP binding|GTPase activity			endometrium(1)|large_intestine(1)|lung(4)	6			BRCA - Breast invasive adenocarcinoma(89;0.0805)			GGCAAGAATCCTTTCGTTCCA	0.378000													25	202					0	0	0.00209593	0	0
TIAM1	7074	broad.mit.edu	37	21	32492714	32492714	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr21:32492714G>A	ENST00000286827.3	-	29	5219	c.4748C>T	c.(4747-4749)cCc>cTc	p.P1583L	TIAM1_ENST00000541036.1_Missense_Mutation_p.P1523L	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1583					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						TTTCCTGGAGGGGGCAAAGTC	0.557000													6	11					0	0	0.00307968	0	0
COL14A1	7373	broad.mit.edu	37	8	121295969	121295969	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:121295969G>A	ENST00000297848.3	+	32	4189	c.3919G>A	c.(3919-3921)Gag>Aag	p.E1307K	COL14A1_ENST00000247781.3_Missense_Mutation_p.E1212K|COL14A1_ENST00000309791.4_Missense_Mutation_p.E1307K	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	1307	Nonhelical region (NC4).|TSP N-terminal.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TGCTCTTTGGGAGATTTTAAA	0.383000													47	56					0	0	0.00361006	0	0
SLC15A2	6565	broad.mit.edu	37	3	121630466	121630466	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:121630466C>T	ENST00000489711.1	+	4	769	c.381C>T	c.(379-381)atC>atT	p.I127I	SLC15A2_ENST00000295605.2_Intron	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	127					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	GCCATGTGATCAAGTCCTTGG	0.403000													6	40					0	0	0.00307968	0	0
PTPRC	5788	broad.mit.edu	37	1	198665938	198665938	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:198665938A>T	ENST00000367376.2	+	4	363	c.192A>T	c.(190-192)gaA>gaT	p.E64D	PTPRC_ENST00000442510.2_Missense_Mutation_p.E66D|PTPRC_ENST00000348564.6_Intron|PTPRC_ENST00000352140.3_Missense_Mutation_p.E64D|PTPRC_ENST00000594404.1_Intron|PTPRC_ENST00000391970.3_Intron	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	64					axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TTGAAAGAGAAAATGACTTCT	0.458000													14	72					0	0	0.00185496	0	0
PXDNL	137902	broad.mit.edu	37	8	52320655	52320655	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:52320655C>T	ENST00000356297.4	-	17	3629	c.3529G>A	c.(3529-3531)Gat>Aat	p.D1177N	PXDNL_ENST00000543296.1_Missense_Mutation_p.D1177N	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1177					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				ATCTCTGAATCTTTAATTTCA	0.353000													25	23					0	0	0.000720815	0	0
SPINT1	6692	broad.mit.edu	37	15	41146691	41146691	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:41146691A>G	ENST00000344051.4	+	7	1319	c.1085A>G	c.(1084-1086)gAc>gGc	p.D362G	SPINT1_ENST00000562057.1_Missense_Mutation_p.D346G|SPINT1_ENST00000431806.1_Missense_Mutation_p.D346G			O43278	SPIT1_HUMAN	serine peptidase inhibitor, Kunitz type 1	362	LDL-receptor class A.					extracellular region|membrane fraction	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		AACTGCCCCGACGCCTCCGAC	0.632000													8	25					0	0	0.00307968	0	0
MXRA5	25878	broad.mit.edu	37	X	3240517	3240517	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:3240517C>T	ENST00000217939.6	-	5	3363	c.3209G>A	c.(3208-3210)gGa>gAa	p.G1070E		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1070						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)				TAGCATATTTCCTCCCTGTAG	0.458000													10	36					0	0	0.000673444	0	0
OR13C4	138804	broad.mit.edu	37	9	107288800	107288800	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:107288800C>T	ENST00000277216.3	-	1	690	c.691G>A	c.(691-693)Gcc>Acc	p.A231T		NM_001001919.1	NP_001001919.1	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C, member 4	231					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						CTTCCTGTGGCCGAGTTCGTT	0.418000													13	60					0	0	0.00244969	0	0
PRKDC	5591	broad.mit.edu	37	8	48794039	48794039	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:48794039G>A	ENST00000314191.2	-	39	5058	c.5002C>T	c.(5002-5004)Cct>Tct	p.P1668S	PRKDC_ENST00000338368.3_Missense_Mutation_p.P1668S|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1669					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				AAGACTTCAGGGAATGAACCA	0.294000								Non-homologous end-joining					25	47					0	0	0.001512	0	0
ZNF827	152485	broad.mit.edu	37	4	146824009	146824009	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:146824009G>A	ENST00000508784.1	-	2	629	c.402C>T	c.(400-402)ctC>ctT	p.L134L	ZNF827_ENST00000513320.1_Intron|ZNF827_ENST00000379448.4_Silent_p.L134L			Q17R98	ZN827_HUMAN	zinc finger protein 827	134					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					CTGCAGCATCGAGTTTGAGGG	0.597000													7	21					0	0	0.00307968	0	0
COL14A1	7373	broad.mit.edu	37	8	121237404	121237404	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:121237404C>T	ENST00000297848.3	+	15	2085	c.1815C>T	c.(1813-1815)tcC>tcT	p.S605S	COL14A1_ENST00000537875.1_3'UTR|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000247781.3_Silent_p.S510S|COL14A1_ENST00000309791.4_Silent_p.S605S	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	605	Fibronectin type-III 4.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CTATTTTCTCCATCTATGATG	0.393000													7	69					0	0	0.00307968	0	0
PLCG1	5335	broad.mit.edu	37	20	39788792	39788792	+	Splice_Site	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:39788792C>T	ENST00000373272.2	+	4	916	c.512_splice	c.e4+1	p.R171_splice	PLCG1_ENST00000373271.1_Splice_Site_p.R171_splice|PLCG1_ENST00000244007.3_Splice_Site_p.R171_splice	NM_002660.2	NP_002651.2	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	171	EF-hand.				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				TCGTGAGGATCGGTAAGTACT	0.587000													6	21					0	0	0.00307968	0	0
SLFN11	91607	broad.mit.edu	37	17	33679392	33679392	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:33679392G>A	ENST00000394566.1	-	7	2961	c.2689C>T	c.(2689-2691)Ccg>Tcg	p.P897S	SLFN11_ENST00000308377.4_Missense_Mutation_p.P897S	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	897						nucleus	ATP binding			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CCACCCCACGGAAAAATATAC	0.433000													49	48					0	0	0.00361006	0	0
COL6A3	1293	broad.mit.edu	37	2	238280964	238280964	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:238280964C>T	ENST00000295550.4	-	9	4148	c.3696G>A	c.(3694-3696)agG>agA	p.R1232R	COL6A3_ENST00000347401.3_Silent_p.R1031R|COL6A3_ENST00000346358.4_Silent_p.R1032R|COL6A3_ENST00000392003.2_Silent_p.R825R|COL6A3_ENST00000392004.3_Silent_p.R1026R|COL6A3_ENST00000409809.1_Silent_p.R1026R|COL6A3_ENST00000353578.4_Silent_p.R1026R|COL6A3_ENST00000472056.1_Silent_p.R625R	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1232	Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	p.R1232R(1)|p.R1026R(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		AGACCACGTCCCTCTTGCCAC	0.542000													8	27					0	0	0.000274275	0	0
CIC	23152	broad.mit.edu	37	19	42796853	42796853	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:42796853C>T	ENST00000572681.2	+	15	6103	c.6035C>T	c.(6034-6036)tCc>tTc	p.S2012F	CIC_ENST00000575354.2_Missense_Mutation_p.S1104F|CIC_ENST00000160740.3_Missense_Mutation_p.S1103F			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1104					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GCACCCACCTCCTCAGCACCC	0.667000			"""Mis, F, S"""		oligodendroglioma								15	37					0	0	0.000566183	0	0
ITGAE	3682	broad.mit.edu	37	17	3651330	3651330	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:3651330G>A	ENST00000263087.4	-	17	2139	c.2041C>T	c.(2041-2043)Cgc>Tgc	p.R681C		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	681					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		ACCTTCAGGCGAACCACAGGC	0.547000													8	31					0	0	0.000442599	0	0
CD93	22918	broad.mit.edu	37	20	23066320	23066320	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:23066320G>A	ENST00000246006.4	-	1	657	c.510C>T	c.(508-510)tcC>tcT	p.S170S		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	170	C-type lectin.				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					TACTTCCGGGGGAGCCTGGGC	0.652000													6	42					0	0	0.000274275	0	0
KIAA1324L	222223	broad.mit.edu	37	7	86509846	86509846	+	Splice_Site	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:86509846C>T	ENST00000450689.2	-	22	3216	c.3030_splice	c.e22-1	p.E1011_splice	KIAA1324L_ENST00000444627.1_Splice_Site_p.E940_splice|KIAA1324L_ENST00000297222.6_Splice_Site_p.E771_splice|KIAA1324L_ENST00000416314.1_Splice_Site_p.E844_splice	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	1011						integral to membrane				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					TCTTCTTTTTCCTAAGAAAAA	0.333000													9	54					0	0	0.000442599	0	0
ANO4	121601	broad.mit.edu	37	12	101505353	101505353	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:101505353G>A	ENST00000392979.3	+	23	2571	c.2210G>A	c.(2209-2211)gGa>gAa	p.G737E	ANO4_ENST00000392977.3_Missense_Mutation_p.G772E|ANO4_ENST00000299222.9_Missense_Mutation_p.G292E|ANO4_ENST00000550015.1_Missense_Mutation_p.G292E	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	772						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						ATTTGGTATGGAATTCTTGAA	0.318000										HNSCC(74;0.22)			13	40					0	0	0.00316338	0	0
ATRNL1	26033	broad.mit.edu	37	10	116919912	116919912	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:116919912G>A	ENST00000355044.3	+	6	1067	c.941G>A	c.(940-942)gGg>gAg	p.G314E	ATRNL1_ENST00000527407.1_Missense_Mutation_p.G314E|ATRNL1_ENST00000529665.1_3'UTR	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	314						integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		GTTTTACACGGGAAATTTATG	0.368000													10	32					0	0	0.000978159	0	0
IKZF1	10320	broad.mit.edu	37	7	50444346	50444346	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:50444346G>A	ENST00000331340.3	+	4	431	c.276G>A	c.(274-276)atG>atA	p.M92I	IKZF1_ENST00000359197.5_Missense_Mutation_p.M92I|IKZF1_ENST00000439701.1_Missense_Mutation_p.M92I|IKZF1_ENST00000349824.4_Missense_Mutation_p.M92I|IKZF1_ENST00000343574.5_Intron|IKZF1_ENST00000438033.1_Intron|IKZF1_ENST00000357364.4_Missense_Mutation_p.M92I|IKZF1_ENST00000440768.2_Missense_Mutation_p.M92I|IKZF1_ENST00000346667.4_Intron	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	92					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(131)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				GAGAGAAAATGAATGGCTCCC	0.488000			"""D,T"""	BCL6	"""ALL, DLBCL"""								12	46					0	0	0.00185496	0	0
FAT4	79633	broad.mit.edu	37	4	126336719	126336719	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:126336719G>A	ENST00000394329.3	+	5	6614	c.6601G>A	c.(6601-6603)Gaa>Aaa	p.E2201K	FAT4_ENST00000335110.5_Missense_Mutation_p.E499K	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2201	Cadherin 21.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			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						TACCAATCAGGAATTTCGGAT	0.433000													9	35					0	0	0.000442599	0	0
OR3A4P	390756	broad.mit.edu	37	17	3213919	3213919	+	RNA	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:3213919C>T	ENST00000573491.1	-	0	359				OR3A4P_ENST00000323164.4_RNA																							CCGAGCTCTTCTTCTTCCACC	0.562000													9	18					0	0	0.000978159	0	0
MUC5B	727897	broad.mit.edu	37	11	1270362	1270362	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:1270362G>A	ENST00000447027.1	+	31	12319	c.12261G>A	c.(12259-12261)acG>acA	p.T4087T	MUC5B_ENST00000529681.1_Silent_p.T4084T|RP11-532E4.2_ENST00000532061.2_RNA			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4084	7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCCCAGGGACGACCACCCCGG	0.706000													11	32					0	0	0.00136819	0	0
ISX	91464	broad.mit.edu	37	22	35478531	35478531	+	Silent	SNP	A	A	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr22:35478531A>C	ENST00000308700.6	+	2	1202	c.250A>C	c.(250-252)Agg>Cgg	p.R84R	ISX_ENST00000404699.2_Silent_p.R84R	NM_001008494.1	NP_001008494.1	Q2M1V0	ISX_HUMAN	intestine-specific homeobox	84						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(4)	26						GAGCAAGCGGAGGGTTCGTAC	0.557000													4	28					0	0	0.00116845	0	0
OR2W1	26692	broad.mit.edu	37	6	29012353	29012353	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:29012353G>A	ENST00000377175.1	-	1	664	c.600C>T	c.(598-600)ttC>ttT	p.F200F		NM_030903.3	NP_112165.1	Q9Y3N9	OR2W1_HUMAN	olfactory receptor, family 2, subfamily W, member 1	200					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F200F(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						TGCCTAAAGCGAAAACAGACA	0.423000													61	59					0	0	0.00361006	0	0
BMP2K	55589	broad.mit.edu	37	4	79832642	79832642	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:79832642C>T	ENST00000335016.5	+	16	3107	c.2941C>T	c.(2941-2943)Cgc>Tgc	p.R981C	PAQR3_ENST00000295462.3_Intron	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	981						nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						ACTGTCCTCTCGCCAAAGGCG	0.488000													8	25					0	0	0.000274275	0	0
TCP11L1	55346	broad.mit.edu	37	11	33090374	33090374	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:33090374C>T	ENST00000334274.4	+	9	1696	c.1296C>T	c.(1294-1296)gcC>gcT	p.A432A	TCP11L1_ENST00000432887.1_Silent_p.A432A|TCP11L1_ENST00000324357.9_Silent_p.A211A|TCP11L1_ENST00000531632.2_Silent_p.A432A	NM_018393.3	NP_060863.3	Q9NUJ3	T11L1_HUMAN	t-complex 11, testis-specific-like 1	432										kidney(1)|liver(2)|lung(2)|skin(1)	6						AGGCCGTGGCCAGTCCCGATG	0.627000													8	7					0	0	0.000274275	0	0
COL4A4	1286	broad.mit.edu	37	2	227924858	227924858	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:227924858G>A	ENST00000396625.3	-	27	2365	c.2158C>T	c.(2158-2160)Cca>Tca	p.P720S	COL4A4_ENST00000329662.7_Missense_Mutation_p.P720S	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	720	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TGACCAGGTGGACCTGGTATT	0.443000													27	44					0	0	0.00209593	0	0
BAGE2	85319	broad.mit.edu	37	21	11058197	11058197	+	RNA	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr21:11058197G>A	ENST00000470054.1	-	0	450									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)		TCTGGACAAAGCAGGAAGATG	0.393000													8	36					0	0	0.000673444	0	0
NBPF1	55672	broad.mit.edu	37	1	16893825	16893825	+	Nonstop_Mutation	SNP	A	A	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:16893825A>G	ENST00000432949.1	-	8	897	c.898T>C	c.(898-900)Tga>Cga	p.*300R	NBPF1_ENST00000430580.2_Silent_p.D896D|NBPF1_ENST00000420031.2_3'UTR			Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	0						cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		GCCCTTTCTCATCCAGCAGCT	0.488000													10	294					0	0	0.00185496	0	0
SPEF2	79925	broad.mit.edu	37	5	35709087	35709087	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:35709087A>T	ENST00000440995.2	+	19	2688	c.2688A>T	c.(2686-2688)aaA>aaT	p.K896N	SPEF2_ENST00000356031.3_Missense_Mutation_p.K901N|CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000509059.1_Missense_Mutation_p.K896N			Q9C093	SPEF2_HUMAN	sperm flagellar 2	901					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CTGAGAAAAAAGCAGCAGCTT	0.413000													17	33					0	0	0.00400662	0	0
NLRP12	91662	broad.mit.edu	37	19	54313084	54313084	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:54313084G>A	ENST00000324134.6	-	3	1997	c.1829C>T	c.(1828-1830)tCc>tTc	p.S610F	NLRP12_ENST00000354278.3_Missense_Mutation_p.S610F|NLRP12_ENST00000391772.1_Missense_Mutation_p.S610F|NLRP12_ENST00000535162.1_Missense_Mutation_p.S610F|NLRP12_ENST00000391775.3_Missense_Mutation_p.S610F|NLRP12_ENST00000391773.1_Missense_Mutation_p.S610F|NLRP12_ENST00000345770.5_Missense_Mutation_p.S610F|NLRP12_ENST00000351894.4_Missense_Mutation_p.S610F	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	610					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GAACTCCAAGGAGCCCTGCTG	0.567000													7	43					0	0	0.00307968	0	0
TLR5	7100	broad.mit.edu	37	1	223285326	223285326	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:223285326C>T	ENST00000540964.1	-	4	1509	c.1048G>A	c.(1048-1050)Gaa>Aaa	p.E350K	TLR5_ENST00000342210.6_Missense_Mutation_p.E350K			O60602	TLR5_HUMAN	toll-like receptor 5	350					cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		CTGTAAAGTTCCCCCAGAAGG	0.363000													24	86					0	0	0.00332997	0	0
IQGAP2	10788	broad.mit.edu	37	5	75970407	75970407	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:75970407C>T	ENST00000274364.6	+	27	3697	c.3400C>T	c.(3400-3402)Caa>Taa	p.Q1134*	IQGAP2_ENST00000379730.3_Nonsense_Mutation_p.Q636*|IQGAP2_ENST00000502745.1_Nonsense_Mutation_p.Q630*|IQGAP2_ENST00000396234.3_Nonsense_Mutation_p.Q630*	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	1134	Ras-GAP.				small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		AAATTCTGACCAAAGGAGAAA	0.443000													13	32					0	0	0.00136819	0	0
HYDIN	54768	broad.mit.edu	37	16	70841527	70841527	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:70841527T>G	ENST00000393567.2	-	86	15472	c.15322A>C	c.(15322-15324)Act>Cct	p.T5108P		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	5108										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)				TTAACTCCAGTCTCACTCCCT	0.473000													7	42					0	0	0.000673444	0	0
PARS2	25973	broad.mit.edu	37	1	55223872	55223872	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:55223872G>A	ENST00000371279.3	-	2	1045	c.963C>T	c.(961-963)ttC>ttT	p.F321F		NM_152268.3	NP_689481.2	Q7L3T8	SYPM_HUMAN	prolyl-tRNA synthetase 2, mitochondrial (putative)	321					prolyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|proline-tRNA ligase activity			breast(1)|endometrium(3)|kidney(2)|lung(4)|ovary(2)|prostate(2)|skin(1)	15					L-Proline(DB00172)	ACTGGGCATTGAAAATGGATG	0.507000													14	48					0	0	0.00316338	0	0
PCDHGA8	9708	broad.mit.edu	37	5	140774694	140774694	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:140774694C>T	ENST00000398604.2	+	1	2314	c.2314C>T	c.(2314-2316)Cag>Tag	p.Q772*	PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_032088.1	NP_114477.1														endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATCTTTCCCCAGCCCAACTA	0.478000													12	48					0	0	0.00316338	0	0
OR5AK2	390181	broad.mit.edu	37	11	56757090	56757090	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:56757090G>A	ENST00000326855.2	+	1	744	c.702G>A	c.(700-702)agG>agA	p.R234R		NM_001005323.1	NP_001005323.1	Q8NH90	O5AK2_HUMAN	olfactory receptor, family 5, subfamily AK, member 2	234					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						GTGCAGGAAGGAAAAAATCCT	0.423000													16	44					0	0	0.00316338	0	0
FCGBP	8857	broad.mit.edu	37	19	40420093	40420093	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:40420093C>T	ENST00000221347.6	-	6	2908	c.2901G>A	c.(2899-2901)agG>agA	p.R967R		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	967	VWFD 2.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CGACGGCATCCCTGCCCTGTC	0.602000													13	17					0	0	0.00244969	0	0
LRP1	4035	broad.mit.edu	37	12	57603862	57603862	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:57603862C>T	ENST00000243077.3	+	81	12956	c.12490C>T	c.(12490-12492)Ccc>Tcc	p.P4164S		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	4164	EGF-like 16.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCTGCTGAGCCCCAGTGGGCC	0.617000													7	24					0	0	0.00307968	0	0
ACTN1	87	broad.mit.edu	37	14	69347701	69347701	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:69347701G>A	ENST00000193403.6	-	17	2342	c.1959C>T	c.(1957-1959)atC>atT	p.I653I	ACTN1_ENST00000394419.4_Silent_p.I653I|ACTN1_ENST00000376839.3_Silent_p.I588I|ACTN1_ENST00000538545.2_Silent_p.I653I|ACTN1_ENST00000438964.2_Silent_p.I653I	NM_001102.3	NP_001093.1	P12814	ACTN1_HUMAN	actinin, alpha 1	653	Interaction with DDN.				focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		AGATCCTCCCGATCTCCTGCT	0.547000													5	29					0	0	0.00198382	0	0
NUBP2	10101	broad.mit.edu	37	16	1838626	1838626	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:1838626A>G	ENST00000262302.9	+	7	847	c.727A>G	c.(727-729)Atc>Gtc	p.I243V	NUBP2_ENST00000565987.1_Missense_Mutation_p.I183V|NUBP2_ENST00000543305.1_Missense_Mutation_p.I102V|NUBP2_ENST00000568706.1_Missense_Mutation_p.I102V	NM_012225.2	NP_036357.1	Q9Y5Y2	NUBP2_HUMAN	nucleotide binding protein 2	243						microtubule organizing center|nucleus	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6						CCACGACTTCATCCAGGAGTT	0.677000													5	10					0	0	0.000602214	0	0
ARHGEF40	55701	broad.mit.edu	37	14	21543585	21543585	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:21543585C>T	ENST00000298694.4	+	4	1672	c.1545C>T	c.(1543-1545)gcC>gcT	p.A515A	ARHGEF40_ENST00000298693.3_Silent_p.A515A			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	515					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						CAGAAGAGGCCCTTGCAGTCT	0.572000													12	32					0	0	0.00136819	0	0
ADCY10	55811	broad.mit.edu	37	1	167830154	167830154	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:167830154C>T	ENST00000367848.1	-	15	1985	c.1488G>A	c.(1486-1488)ttG>ttA	p.L496L	ADCY10_ENST00000545172.1_Silent_p.L435L|ADCY10_ENST00000367851.4_Silent_p.L588L			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	588					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						ACTTTTCATCCAACAGTGTCA	0.398000													28	77					0	0	0.00375469	0	0
BCAR3	8412	broad.mit.edu	37	1	94054934	94054934	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:94054934G>A	ENST00000370244.1	-	7	817	c.529C>T	c.(529-531)Cgt>Tgt	p.R177C	BCAR3_ENST00000370243.1_Missense_Mutation_p.R177C|BCAR3_ENST00000370247.3_Missense_Mutation_p.R86C|BCAR3_ENST00000260502.6_Missense_Mutation_p.R177C	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	177	SH2.				response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		AGAGAGTCACGAACTAGGAAG	0.488000													7	16					0	0	0.000274275	0	0
RELN	5649	broad.mit.edu	37	7	103236980	103236980	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:103236980G>A	ENST00000428762.1	-	25	3621	c.3462C>T	c.(3460-3462)ctC>ctT	p.L1154L	RELN_ENST00000343529.5_Silent_p.L1154L|RELN_ENST00000424685.2_Silent_p.L1154L	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1154					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TGTACTGAAGGAGGACGCCCT	0.522000													15	110					0	0	0.00121646	0	0
PRSS1	5644	broad.mit.edu	37	7	142459835	142459835	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:142459835G>A	ENST00000486171.1	+	4	470	c.453G>A	c.(451-453)acG>acA	p.T151T	PRSS1_ENST00000311737.7_Silent_p.T137T			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	137	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity	p.T137T(2)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			CCACTGGCACGAAGTGCCTCA	0.552000													12	55					0	0	0.00400662	0	0
MSGN1	343930	broad.mit.edu	37	2	17997936	17997936	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:17997936C>T	ENST00000281047.3	+	1	174	c.151C>T	c.(151-153)Cca>Tca	p.P51S		NM_001105569.1	NP_001099039.1	A6NI15	MSGN1_HUMAN	mesogenin 1	51					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TTCCCCGGCTCCATCGCTGGA	0.642000													23	30					0	0	0.00278032	0	0
SSBP1	6742	broad.mit.edu	37	7	141443419	141443419	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:141443419G>A	ENST00000481508.1	+	4	579	c.144G>A	c.(142-144)gtG>gtA	p.V48V	SSBP1_ENST00000498107.1_Silent_p.V48V|SSBP1_ENST00000265304.6_Silent_p.V48V|SSBP1_ENST00000469123.1_3'UTR|SSBP1_ENST00000484178.1_Silent_p.V48V|SSBP1_ENST00000465582.1_Silent_p.V48V	NM_001256510.1	NP_001243439.1	Q04837	SSBP_HUMAN	single-stranded DNA binding protein 1, mitochondrial	48	SSB.				DNA replication|positive regulation of helicase activity	mitochondrial nucleoid	single-stranded DNA binding			large_intestine(3)|lung(1)|ovary(1)|pancreas(1)|skin(1)	7	Melanoma(164;0.0171)					TGAGACAGGTGGAAGGAAAAA	0.458000													16	127					0	0	0.00074312	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995987	140995987	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:140995987G>A	ENST00000285879.4	+	4	3083	c.2797G>A	c.(2797-2799)Gag>Aag	p.E933K	MAGEC1_ENST00000406005.2_5'UTR	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	933	MAGE.						protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CACAAAGGCAGAGATGCTGAC	0.478000										HNSCC(15;0.026)			36	76					0	0	0.00428921	0	0
TECRL	253017	broad.mit.edu	37	4	65145907	65145907	+	Silent	SNP	A	A	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:65145907A>G	ENST00000381210.3	-	12	1085	c.975T>C	c.(973-975)ttT>ttC	p.F325F	TECRL_ENST00000507440.1_Intron	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	325					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						TCAGAAGTGTAAAAATTCCAA	0.269000													8	43					0	0	0.000673444	0	0
BAHCC1	57597	broad.mit.edu	37	17	79409825	79409825	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:79409825C>T	ENST00000307745.7	+	9	1450	c.1450C>T	c.(1450-1452)Cct>Tct	p.P484S																								CCCCGGACTCCCTAAAAGCGG	0.682000													7	8					0	0	0.000442599	0	0
SLC39A12	221074	broad.mit.edu	37	10	18250704	18250704	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:18250704G>A	ENST00000377369.2	+	3	729	c.456G>A	c.(454-456)caG>caA	p.Q152Q	SLC39A12_ENST00000539911.1_Silent_p.Q18Q|SLC39A12_ENST00000377371.3_Silent_p.Q152Q|SLC39A12_ENST00000377374.4_Silent_p.Q152Q	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	152					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						GCCTCAGGCAGGATGAAGATT	0.393000													14	44					0	0	0.00185496	0	0
KRT72	140807	broad.mit.edu	37	12	52984626	52984626	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:52984626C>T	ENST00000293745.2	-	6	1168	c.1083G>A	c.(1081-1083)aaG>aaA	p.K361K	KRT72_ENST00000398066.3_Silent_p.K173K|KRT72_ENST00000354310.4_Intron|KRT72_ENST00000537672.2_Silent_p.K361K	NM_080747.2	NP_542785.1	Q14CN4	K2C72_HUMAN	keratin 72	361	Coil 2.|Rod.					keratin filament	structural molecule activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		CCACCTGCTTCTTCACATTCC	0.483000													8	41					0	0	0.00307968	0	0
C1orf101	257044	broad.mit.edu	37	1	244724443	244724443	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:244724443C>T	ENST00000366534.4	+	10	1557	c.1503C>T	c.(1501-1503)ttC>ttT	p.F501F	C1orf101_ENST00000473875.1_3'UTR|C1orf101_ENST00000366533.4_Silent_p.F501F|C1orf101_ENST00000366531.3_Silent_p.F350F	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101	501						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			ATGAAGTTTTCATAGGTAAGG	0.343000													13	69					0	0	0.00136819	0	0
HEG1	57493	broad.mit.edu	37	3	124728598	124728598	+	Silent	SNP	G	G	A	rs55953700		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:124728598G>A	ENST00000311127.4	-	8	3211	c.3144C>T	c.(3142-3144)atC>atT	p.I1048I		NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	1048	EGF-like 2; calcium-binding (Potential).					extracellular region|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						GGCATTTGCAGATAAAGGATC	0.428000													8	26					0	0	0.000673444	0	0
SERPINA4	5267	broad.mit.edu	37	14	95030272	95030272	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:95030272C>T	ENST00000557004.1	+	2	874	c.453C>T	c.(451-453)ttC>ttT	p.F151F	SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000298841.5_Silent_p.F151F|SERPINA4_ENST00000555095.1_Silent_p.F151F			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	151					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)		ACCTGAAGTTCCTTGCAAAAT	0.542000													17	43					0	0	0.00400662	0	0
ATP13A4	84239	broad.mit.edu	37	3	193185217	193185217	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:193185217C>T	ENST00000342695.4	-	10	1324	c.1002G>A	c.(1000-1002)tgG>tgA	p.W334*	ATP13A4_ENST00000295548.3_Nonsense_Mutation_p.W334*|ATP13A4_ENST00000392443.3_Nonsense_Mutation_p.W334*	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	334					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		TCTGTGTTTTCCAGGGCACAG	0.507000													10	50					0	0	0.000442599	0	0
PTPRB	5787	broad.mit.edu	37	12	70954554	70954554	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:70954554C>T	ENST00000334414.6	-	17	4373	c.4329G>A	c.(4327-4329)acG>acA	p.T1443T	PTPRB_ENST00000550358.1_Silent_p.T1355T|PTPRB_ENST00000551525.1_Silent_p.T1442T|PTPRB_ENST00000550857.1_Silent_p.T1135T|PTPRB_ENST00000538708.1_Silent_p.T1135T|PTPRB_ENST00000451516.2_Silent_p.T1135T|PTPRB_ENST00000261266.5_Silent_p.T1225T	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1225	Fibronectin type-III 16.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			ACCGCCACTCCGTCAGGTCCT	0.488000													5	14					0	0	0.00116845	0	0
TIMELESS	8914	broad.mit.edu	37	12	56811925	56811925	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:56811925G>A	ENST00000229201.4	-	27	3598	c.3444C>T	c.(3442-3444)tcC>tcT	p.S1148S	TIMELESS_ENST00000554616.1_Silent_p.S646S|TIMELESS_ENST00000553532.1_Silent_p.S1149S	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN	timeless circadian clock	1149					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						TACCCTCTGGGGATGCCAGGC	0.542000													33	97					0	0	0.00111076	0	0
ZNF99	7652	broad.mit.edu	37	19	22940941	22940941	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:22940941C>T	ENST00000397104.3	-	5	1496	c.1497G>A	c.(1495-1497)gaG>gaA	p.E499E	ZNF99_ENST00000596209.1_Silent_p.E590E					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TGTAGGGTTTCTCCCCAGTAT	0.363000													7	24					0	0	0.00198382	0	0
FBXO34	55030	broad.mit.edu	37	14	55818037	55818037	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:55818037G>A	ENST00000313833.4	+	2	1174	c.929G>A	c.(928-930)cGa>cAa	p.R310Q	FBXO34_ENST00000440021.1_Missense_Mutation_p.R310Q	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34	310										breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						AGCTTCCGTCGAAATGTGGGC	0.537000													16	55					0	0	0.00400662	0	0
GRM6	2916	broad.mit.edu	37	5	178409996	178409996	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:178409996G>A	ENST00000231188.5	-	9	2529	c.2351C>T	c.(2350-2352)cCc>cTc	p.P784L	RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000517717.1_Missense_Mutation_p.P784L	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	784					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)		GAAGCCGATGGGCTTGGCCTC	0.592000													8	42					0	0	0.000673444	0	0
MAPK8IP2	23542	broad.mit.edu	37	22	51045390	51045390	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr22:51045390C>T	ENST00000399908.2	+	8	2192	c.1476C>T	c.(1474-1476)tcC>tcT	p.S492S	MAPK8IP2_ENST00000442429.2_Silent_p.S480S|MAPK8IP2_ENST00000329492.3_Silent_p.S757S|MAPK8IP2_ENST00000341339.4_Silent_p.S378S|MAPK8IP2_ENST00000399912.1_Silent_p.S492S|MAPK8IP2_ENST00000008876.5_Silent_p.S463S	NM_016431.3	NP_057515.1	Q13387	JIP2_HUMAN	mitogen-activated protein kinase 8 interacting protein 2	758					behavioral fear response|dendrite morphogenesis|MAPKKK cascade|nonassociative learning|positive regulation of anti-apoptosis|regulation of excitatory postsynaptic membrane potential|regulation of JNK cascade|regulation of receptor activity|regulation of synaptic transmission, glutamatergic|signal complex assembly|social behavior	cytoplasm|postsynaptic density	beta-amyloid binding|kinesin binding|MAP-kinase scaffold activity|protein kinase activator activity|protein kinase binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		AGAACATCTCCTTCTGCGGCT	0.622000													5	28					0	0	0.00198382	0	0
SLC27A6	28965	broad.mit.edu	37	5	128365291	128365291	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:128365291T>G	ENST00000262462.4	+	9	2584	c.1574T>G	c.(1573-1575)aTg>aGg	p.M525R	SLC27A6_ENST00000506176.1_Missense_Mutation_p.M525R|SLC27A6_ENST00000395266.1_Missense_Mutation_p.M525R			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	525					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)		AGAGCAGGAATGGCTTCTATT	0.289000													6	34					0	0	0.00198382	0	0
ITGAD	3681	broad.mit.edu	37	16	31413511	31413511	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:31413511A>C	ENST00000389202.2	+	6	552	c.503A>C	c.(502-504)cAg>cCg	p.Q168P		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	168	VWFA.				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GACTTTAACCAGATGAAGGGC	0.562000													12	65					0	0	0.00316338	0	0
TRBV7-8	28590	broad.mit.edu	37	7	142099675	142099675	+	RNA	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:142099675C>T	ENST00000390359.3	-	0	165																											GAAATTGGATCACACCTGAGA	0.488000													36	29					0	0	0.00111076	0	0
AADAT	51166	broad.mit.edu	37	4	171009679	171009679	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:171009679G>A	ENST00000337664.4	-	2	380	c.104C>T	c.(103-105)tCc>tTc	p.S35F	AADAT_ENST00000353187.2_Missense_Mutation_p.S35F|AADAT_ENST00000509167.1_Missense_Mutation_p.S39F|AADAT_ENST00000515480.1_Missense_Mutation_p.S35F	NM_016228.3	NP_057312.1	Q8N5Z0	AADAT_HUMAN	aminoadipate aminotransferase	35					2-oxoglutarate metabolic process|biosynthetic process|glutamate metabolic process|lysine catabolic process	mitochondrial matrix	2-aminoadipate transaminase activity|kynurenine-oxoglutarate transaminase activity|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|pancreas(1)|stomach(1)	11		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0355)|LUSC - Lung squamous cell carcinoma(193;0.118)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	ACCAGCCAAGGAGATCATCGA	0.388000													26	65					0	0	0.00106085	0	0
CFHR4	10877	broad.mit.edu	37	1	196874238	196874238	+	Splice_Site	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:196874238G>A	ENST00000367416.2	+	3	391	c.253_splice	c.e3-1	p.R85_splice	CFHR4_ENST00000251424.4_Intron|CFHR2_ENST00000367421.3_Intron|CFHR4_ENST00000367418.1_Intron	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1			complement factor H-related 4											NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						TCTATTTTAGGAACATGCTCA	0.264000													5	28					0	0	0.00198382	0	0
SNHG14	104472715	broad.mit.edu	37	15	25449569	25449569	+	RNA	SNP	G	G	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:25449569G>C	ENST00000424208.1	+	0	2339				SNORD115-19_ENST00000363098.1_RNA|SNHG14_ENST00000424333.1_RNA	NR_003305.1																						ATTCTCAAAAGGATTATGCTG	0.498000													16	85					0	0	0.00121646	0	0
POPDC2	64091	broad.mit.edu	37	3	119367329	119367329	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:119367329G>A	ENST00000493094.1	-	3	1246	c.787C>T	c.(787-789)Cgc>Tgc	p.R263C	POPDC2_ENST00000474523.1_5'UTR|POPDC2_ENST00000468801.1_Missense_Mutation_p.R263C|POPDC2_ENST00000264231.3_Missense_Mutation_p.R263C|POPDC2_ENST00000538678.1_Missense_Mutation_p.R263C			Q9HBU9	POPD2_HUMAN	popeye domain containing 2	263						integral to membrane				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	13				GBM - Glioblastoma multiforme(114;0.242)		CTGGGAAGGCGGATGTCAAAG	0.557000													7	38					0	0	0.00198382	0	0
MNDA	4332	broad.mit.edu	37	1	158817548	158817548	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:158817548G>A	ENST00000368141.4	+	6	1279	c.1018G>A	c.(1018-1020)Gaa>Aaa	p.E340K		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	340	HIN-200.				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					CACAATTTATGAAATACAGGA	0.373000													12	56					0	0	0.00400662	0	0
ABCG2	9429	broad.mit.edu	37	4	89028360	89028360	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:89028360T>A	ENST00000237612.3	-	10	1798	c.1253A>T	c.(1252-1254)aAt>aTt	p.N418I	ABCG2_ENST00000515655.1_Missense_Mutation_p.N418I	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2	418	ABC transmembrane type-2.	Not glycosylated.			cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)	AGTAGAATCATTTTTTAGCCC	0.333000													5	30					0	0	0.00307968	0	0
OR2W5	441932	broad.mit.edu	37	1	247655354	247655354	+	RNA	SNP	G	G	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:247655354G>C	ENST00000522351.1	+	0	985							A6NFC9	OR2W5_HUMAN							sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-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)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TGGGGTGGGAGAAAGGGGCTG	0.498000													13	33					0	0	0.00185496	0	0
NOBOX	135935	broad.mit.edu	37	7	144099029	144099029	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:144099029G>A	ENST00000467773.1	-	3	224	c.225C>T	c.(223-225)ccC>ccT	p.P75P	NOBOX_ENST00000223140.5_Intron|NOBOX_ENST00000483238.1_Silent_p.P75P	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	75					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					GTATCTCTAAGGGATCATGTT	0.507000													39	32					0	0	0.00361006	0	0
KLK13	26085	broad.mit.edu	37	19	51559975	51559975	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:51559975C>T	ENST00000595793.1	-	5	745	c.703G>A	c.(703-705)Gga>Aga	p.G235R	KLK13_ENST00000335422.3_Missense_Mutation_p.G83R|KLK13_ENST00000595547.1_Missense_Mutation_p.G162R	NM_015596.1	NP_056411.1	Q9UKR3	KLK13_HUMAN	kallikrein-related peptidase 13	235	Peptidase S1.				proteolysis		protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	16		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)		GGGAAGTCTCCCCAGGAGACG	0.547000													6	42					0	0	0.00116845	0	0
ATP2C1	27032	broad.mit.edu	37	3	130659530	130659530	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:130659530C>T	ENST00000510168.1	+	7	967	c.417C>T	c.(415-417)tgC>tgT	p.C139C	ATP2C1_ENST00000393221.4_Silent_p.C173C|ATP2C1_ENST00000504381.1_Silent_p.C84C|ATP2C1_ENST00000533801.2_Silent_p.C134C|ATP2C1_ENST00000505330.1_Silent_p.C123C|ATP2C1_ENST00000428331.2_Silent_p.C139C|ATP2C1_ENST00000513801.1_Silent_p.C123C|ATP2C1_ENST00000508532.1_Silent_p.C139C|ATP2C1_ENST00000359644.3_Silent_p.C139C|ATP2C1_ENST00000328560.8_Silent_p.C139C|ATP2C1_ENST00000422190.2_Silent_p.C139C|ATP2C1_ENST00000507488.2_Silent_p.C123C|ATP2C1_ENST00000504948.1_Silent_p.C123C			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	139					actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)	CACCAGAATGCCATTGGTATG	0.338000									Hailey-Hailey disease				8	57					0	0	0.000978159	0	0
TMC7	79905	broad.mit.edu	37	16	19032952	19032952	+	Splice_Site	SNP	G	G	A	rs145788880		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:19032952G>A	ENST00000421369.3	+	4	690	c.130_splice	c.e4-1	p.G44_splice	TMC7_ENST00000569532.1_Splice_Site_p.G154_splice|TMC7_ENST00000304381.5_Splice_Site_p.G154_splice	NM_001160364.1	NP_001153836.1	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	154						integral to membrane		p.G154G(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						TTTTTCCAGGGAAATTTGGCA	0.418000													16	66					0	0	0.00074312	0	0
C1S	716	broad.mit.edu	37	12	7172536	7172536	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:7172536C>T	ENST00000406697.1	+	9	1278	c.650C>T	c.(649-651)aCc>aTc	p.T217I	C1S_ENST00000328916.3_Missense_Mutation_p.T217I|C1S_ENST00000402681.3_Missense_Mutation_p.T50I|C1S_ENST00000360817.5_Missense_Mutation_p.T217I			P09871	C1S_HUMAN	complement component 1, s subcomponent	217	CUB 2.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	GTGGTGGTGACCTTGCGGAGA	0.473000													22	77					0	0	0.00127121	0	0
PHRF1	57661	broad.mit.edu	37	11	607121	607121	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:607121C>T	ENST00000264555.5	+	14	1793	c.1665C>T	c.(1663-1665)ttC>ttT	p.F555F	PHRF1_ENST00000533464.1_Silent_p.F551F|PHRF1_ENST00000413872.2_Silent_p.F553F|PHRF1_ENST00000416188.2_Silent_p.F554F	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	555							RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						AAGAAGGATTCAAGGGCTGCC	0.562000													8	21					0	0	0.000274275	0	0
HMGCR	3156	broad.mit.edu	37	5	74647374	74647374	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:74647374C>T	ENST00000287936.4	+	11	1471	c.1315C>T	c.(1315-1317)Ccc>Tcc	p.P439S	HMGCR_ENST00000511206.1_Missense_Mutation_p.P439S|HMGCR_ENST00000343975.5_Missense_Mutation_p.P439S	NM_000859.2	NP_000850.1	P04035	HMDH_HUMAN	3-hydroxy-3-methylglutaryl-CoA reductase	439	Linker.				cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane	hydroxymethylglutaryl-CoA reductase (NADPH) activity|NADP binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)	AATTGAACTTCCCAGGGAACC	0.423000													47	178					0	0	0.00361006	0	0
OR4S2	219431	broad.mit.edu	37	11	55418412	55418412	+	Silent	SNP	T	T	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:55418412T>C	ENST00000312422.2	+	1	33	c.33T>C	c.(31-33)atT>atC	p.I11I		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	11					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				CTGAATTCATTTTCTGGGGTC	0.343000													5	22					0	0	0.00198382	0	0
CCIN	881	broad.mit.edu	37	9	36170051	36170051	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:36170051C>T	ENST00000335119.2	+	1	663	c.552C>T	c.(550-552)ctC>ctT	p.L184L		NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	calicin	184	BACK.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			GCCGCCTGCTCCGTGATGAAA	0.532000													4	14					0	0	0.00116845	0	0
DDX26B	203522	broad.mit.edu	37	X	134706880	134706880	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:134706880C>T	ENST00000370752.4	+	11	1762	c.1428C>T	c.(1426-1428)atC>atT	p.I476I	DDX26B_ENST00000493637.1_3'UTR	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	476										large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					TGAAAGAAATCACAGGGGAAA	0.358000													17	41					0	0	0.00074312	0	0
FBXO46	23403	broad.mit.edu	37	19	46215701	46215701	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:46215701G>A	ENST00000317683.3	-	2	1186	c.1053C>T	c.(1051-1053)ccC>ccT	p.P351P		NM_001080469.1	NP_001073938.1	Q6PJ61	FBX46_HUMAN	F-box protein 46	351							protein binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		GGGGCGGAGGGGGCGCCGGGG	0.697000													5	8					0	0	0.00198382	0	0
ABCC8	6833	broad.mit.edu	37	11	17464409	17464409	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:17464409C>T	ENST00000302539.4	-	10	1613	c.1488G>A	c.(1486-1488)ctG>ctA	p.L496L	ABCC8_ENST00000389817.3_Silent_p.L496L	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	496	ABC transmembrane type-1 1.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	TGGTCTGCTTCAGCCGCTCAT	0.607000													33	83					0	0	0.000953801	0	0
XYLT1	64131	broad.mit.edu	37	16	17221635	17221635	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:17221635G>A	ENST00000261381.6	-	10	2195	c.2111C>T	c.(2110-2112)gCt>gTt	p.A704V		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	704					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CAGATTGGTAGCATGATGCTT	0.522000													22	62					0	0	0.000720815	0	0
AIDA	64853	broad.mit.edu	37	1	222860275	222860275	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:222860275G>A	ENST00000340020.6	-	6	663	c.457C>T	c.(457-459)Ccc>Tcc	p.P153S	AIDA_ENST00000355727.2_Missense_Mutation_p.P153S|AIDA_ENST00000541237.1_Missense_Mutation_p.P129S|AIDA_ENST00000474863.1_5'UTR	NM_022831.2	NP_073742.2	Q96BJ3	AIDA_HUMAN	axin interactor, dorsalization associated	153					dorsal/ventral pattern formation|negative regulation of JNK cascade|negative regulation of JUN kinase activity|regulation of protein homodimerization activity					kidney(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10						TACCTACCGGGAACTCTAGCA	0.413000													33	138					0	0	0.00111076	0	0
MEN1	4221	broad.mit.edu	37	11	64573220	64573220	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:64573220C>T	ENST00000337652.1	-	8	1590	c.1087G>A	c.(1087-1089)Gag>Aag	p.E363K	MEN1_ENST00000377321.1_Missense_Mutation_p.E323K|MEN1_ENST00000377326.3_Missense_Mutation_p.E358K|MEN1_ENST00000377313.1_Missense_Mutation_p.E363K|MEN1_ENST00000394374.2_Missense_Mutation_p.E363K|MEN1_ENST00000377316.2_Missense_Mutation_p.E358K|MEN1_ENST00000443283.1_Missense_Mutation_p.E363K|MEN1_ENST00000315422.4_Missense_Mutation_p.E358K|MEN1_ENST00000312049.6_Missense_Mutation_p.E358K|MEN1_ENST00000394376.1_Missense_Mutation_p.E363K|MEN1_ENST00000478548.1_5'UTR	NM_130803.2	NP_570715.1	O00255	MEN1_HUMAN	multiple endocrine neoplasia I	363	Interaction with FANCD2.				DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding			NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						TAGATCTCCTCGTCTTCCCGG	0.612000			"""D, Mis, N, F, S"""		"""parathyroid tumors, Pancreatic neuroendocrine tumors"""	"""parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"""			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated				19	54					0	0	0.00278032	0	0
OR52R1	119695	broad.mit.edu	37	11	4825358	4825358	+	Silent	SNP	A	A	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:4825358A>G	ENST00000380382.1	-	1	489	c.490T>C	c.(490-492)Ttg>Ctg	p.L164L	OR52R1_ENST00000356069.2_Silent_p.L85L|MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron			Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	85					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		AATATGGCCAACATCTTAGGT	0.507000													7	42					0	0	0.000274275	0	0
MUC4	4585	broad.mit.edu	37	3	195517925	195517925	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:195517925C>T	ENST00000463781.3	-	2	985	c.526G>A	c.(526-528)Gaa>Aaa	p.E176K	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.E176K|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	181					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GATTGTCCTTCCTGTCCAGCT	0.507000													13	64					0	0	0.00185496	0	0
MXRA5	25878	broad.mit.edu	37	X	3229307	3229307	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:3229307C>T	ENST00000217939.6	-	7	7091	c.6937G>A	c.(6937-6939)Gaa>Aaa	p.E2313K		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2313	Ig-like C2-type 7.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				ATCCCCACTTCGTTAAAGTAG	0.552000													15	64					0	0	0.000566183	0	0
SGCZ	137868	broad.mit.edu	37	8	13948047	13948047	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:13948047C>T	ENST00000382080.1	-	8	1559	c.844G>A	c.(844-846)Gaa>Aaa	p.E282K	SGCZ_ENST00000421524.2_Missense_Mutation_p.E235K	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	269					cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		ACGCAGAGTTCATACACTGTC	0.473000													6	20					0	0	0.00116845	0	0
LRRC66	339977	broad.mit.edu	37	4	52860816	52860816	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:52860816T>A	ENST00000343457.3	-	4	2378	c.2372A>T	c.(2371-2373)gAa>gTa	p.E791V		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	791						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						AGAGGCATTTTCCAGATGAGT	0.478000													9	13					0	0	0.000274275	0	0
CSMD3	114788	broad.mit.edu	37	8	113276005	113276005	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:113276005C>T	ENST00000297405.5	-	61	9969	c.9725G>A	c.(9724-9726)gGa>gAa	p.G3242E	CSMD3_ENST00000343508.3_Missense_Mutation_p.G3202E|CSMD3_ENST00000455883.2_Missense_Mutation_p.G3073E|CSMD3_ENST00000352409.3_Missense_Mutation_p.G3172E	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3242	Sushi 25.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTCCAGCCTTCCATTAGAGAT	0.433000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			5	30					0	0	0.000602214	0	0
RAG1	5896	broad.mit.edu	37	11	36596622	36596622	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:36596622C>T	ENST00000299440.5	+	2	1880	c.1768C>T	c.(1768-1770)Ctg>Ttg	p.L590L		NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN	recombination activating gene 1	590					histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				TGATGATTACCTGAATGGCCC	0.493000									Familial Hemophagocytic Lymphohistiocytosis				4	21					0	0	0.00024832	0	0
FTHL17	53940	broad.mit.edu	37	X	31089887	31089887	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:31089887C>T	ENST00000359202.3	-	1	283	c.184G>A	c.(184-186)Gac>Aac	p.D62N		NM_031894.2	NP_114100.1	Q9BXU8	FHL17_HUMAN	ferritin, heavy polypeptide-like 17	62	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						TCCATTTTGTCGTCCGACAGG	0.577000													19	35					0	0	0.00188189	0	0
LRP2	4036	broad.mit.edu	37	2	170009333	170009333	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:170009333C>T	ENST00000263816.3	-	67	12722	c.12437G>A	c.(12436-12438)gGa>gAa	p.G4146E		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4146					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CACTGCTATTCCATCTGGCTG	0.473000													20	74					0	0	0.00188189	0	0
SEZ6	124925	broad.mit.edu	37	17	27308796	27308796	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:27308796G>A	ENST00000317338.12	-	2	745	c.317C>T	c.(316-318)cCc>cTc	p.P106L	SEZ6_ENST00000335960.6_Missense_Mutation_p.P106L|SEZ6_ENST00000442608.3_Missense_Mutation_p.P106L|SEZ6_ENST00000360295.9_Missense_Mutation_p.P106L|PIPOX_ENST00000583215.1_Intron			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	106	Pro-rich.					integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			GCGGGGAAGGGGACTTGGGGT	0.637000													14	32					0	0	0.00229938	0	0
OOSP2	219990	broad.mit.edu	37	11	59811097	59811097	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:59811097C>T	ENST00000278855.2	+	2	405	c.220C>T	c.(220-222)Cgt>Tgt	p.R74C	PLAC1L_ENST00000532905.1_Missense_Mutation_p.R43C	NM_173801.3	NP_776162.2	Q86WS3	PLACL_HUMAN		74						extracellular region				breast(1)|lung(9)|ovary(2)|prostate(2)|skin(1)	15						ATATCTTGTTCGTGATTGTGG	0.343000													12	30					0	0	0.000978159	0	0
TRIM14	9830	broad.mit.edu	37	9	100857249	100857249	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:100857249G>A	ENST00000341469.2	-	4	609	c.600C>T	c.(598-600)ccC>ccT	p.P200P	TRIM14_ENST00000375098.3_Silent_p.P200P|TRIM14_ENST00000342043.3_Silent_p.P200P	NM_014788.2	NP_055603.2	Q14142	TRI14_HUMAN	tripartite motif containing 14	200						cytoplasm|intracellular	zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(62;0.0559)				AGAGGGGCACGGGATGGCACA	0.597000													9	22					0	0	0.000442599	0	0
MYO5B	4645	broad.mit.edu	37	18	47488716	47488716	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:47488716C>T	ENST00000285039.7	-	12	1764	c.1465G>A	c.(1465-1467)Gat>Aat	p.D489N		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	489	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)		TCATAAAAATCAATCAGGGTC	0.418000													10	50					0	0	0.000673444	0	0
STK19	8859	broad.mit.edu	37	6	31940123	31940123	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:31940123G>A	ENST00000375331.2	+	2	431	c.265G>A	c.(265-267)Gac>Aac	p.D89N	STK19_ENST00000375333.2_Missense_Mutation_p.D89N	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN	serine/threonine kinase 19	89			D -> N (in a metastatic melanoma sample; somatic mutation).			nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	p.D89N(4)		skin(5)|upper_aerodigestive_tract(2)	7						TGCGCCGGAAGACCCTATTTT	0.582000													6	82					0	0	0.00198382	0	0
ASPHD2	57168	broad.mit.edu	37	22	26829820	26829820	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr22:26829820G>A	ENST00000215906.5	+	2	677	c.239G>A	c.(238-240)aGg>aAg	p.R80K		NM_020437.4	NP_065170.2	Q6ICH7	ASPH2_HUMAN	aspartate beta-hydroxylase domain containing 2	80					peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	16						CACGTGGGCAGGGAGCAGCCC	0.642000													8	27					0	0	0.000442599	0	0
CACNA1I	8911	broad.mit.edu	37	22	40015314	40015314	+	Splice_Site	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr22:40015314G>A	ENST00000336649.4	+	6	482		c.e6-1		CACNA1I_ENST00000402142.3_Splice_Site|CACNA1I_ENST00000407673.1_Splice_Site|CACNA1I_ENST00000404898.1_Splice_Site|CACNA1I_ENST00000401624.1_Splice_Site|CACNA1I_ENST00000400164.3_Splice_Site			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit						axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	TTTCTCTGCAGGATGGTCGAG	0.632000													14	31					0	0	0.00316338	0	0
CPSF7	79869	broad.mit.edu	37	11	61188022	61188022	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:61188022G>A	ENST00000340437.4	-	4	506	c.426C>T	c.(424-426)atC>atT	p.I142I	CPSF7_ENST00000439958.3_Silent_p.I99I|CPSF7_ENST00000448745.1_Silent_p.I99I|CPSF7_ENST00000541963.1_Intron|CPSF7_ENST00000394888.4_Silent_p.I99I	NM_024811.3	NP_079087.3	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa	99	RRM.				mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	mRNA cleavage factor complex	nucleotide binding|protein binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						GAATAACCTGGATCAGCTGCT	0.517000													22	61					0	0	0.000720815	0	0
SOGA3	387104	broad.mit.edu	37	6	127837056	127837056	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:127837056C>T	ENST00000556132.1	-	2	1568	c.704G>A	c.(703-705)gGa>gAa	p.G235E	SOGA3_ENST00000368268.2_Missense_Mutation_p.G235E|SOGA3_ENST00000465909.2_Missense_Mutation_p.G235E|SOGA3_ENST00000481848.2_Missense_Mutation_p.G235E|SOGA3_ENST00000525778.1_Missense_Mutation_p.G235E	NM_001012279.2	NP_001012279.1	Q5TF21	CF174_HUMAN	SOGA family member 3	235	Gly-rich.					integral to membrane											AACGCCGCTTCCGGAGTTTCT	0.657000													4	25					0	0	0.00116845	0	0
LIN7A	8825	broad.mit.edu	37	12	81283035	81283035	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:81283035G>A	ENST00000552864.1	-	2	398	c.196C>T	c.(196-198)Cga>Tga	p.R66*		NM_004664.2	NP_004655.1	O14910	LIN7A_HUMAN	lin-7 homolog A (C. elegans)	66	L27.				exocytosis|protein complex assembly|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	L27 domain binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(2)	15						CATACCTCTCGAATAGCTGTA	0.343000													14	25					0	0	0.00244969	0	0
ATP8A2	51761	broad.mit.edu	37	13	26153975	26153975	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr13:26153975G>A	ENST00000381655.2	+	22	2039	c.1897G>A	c.(1897-1899)Gat>Aat	p.D633N	ATP8A2_ENST00000255283.8_Missense_Mutation_p.D593N|ATP8A2_ENST00000491840.1_3'UTR	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	593					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		GGCTTATGCTGATCTCTCTGA	0.532000													5	17					0	0	0.00116845	0	0
ALPK2	115701	broad.mit.edu	37	18	56203325	56203325	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:56203325C>G	ENST00000361673.3	-	5	4307	c.4094G>C	c.(4093-4095)gGg>gCg	p.G1365A	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1365							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						ATTTTCCTTCCCTCCAGTTTC	0.453000													16	59					0	0	0.000566183	0	0
CD1E	913	broad.mit.edu	37	1	158325885	158325885	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:158325885C>T	ENST00000444681.2	+	3	890	c.597C>T	c.(595-597)atC>atT	p.I199I	CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368163.3_Intron|CD1E_ENST00000452291.2_Silent_p.I109I|CD1E_ENST00000368165.3_Silent_p.I208I|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000368166.3_Silent_p.I109I|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000434258.1_Silent_p.I296I|CD1E_ENST00000368156.1_Silent_p.I208I|CD1E_ENST00000368161.3_Intron|CD1E_ENST00000368155.3_Intron|CD1E_ENST00000368167.3_Silent_p.I298I|CD1E_ENST00000368160.3_Silent_p.I298I	NM_001185114.1	NP_001172043.1	P15812	CD1E_HUMAN	CD1e molecule	298	Ig-like.				antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					ATGATCTAATCATCCATTGGG	0.547000													6	38					0	0	0.00307968	0	0
IL6ST	3572	broad.mit.edu	37	5	55251907	55251907	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:55251907G>A	ENST00000381298.2	-	10	1525	c.1213C>T	c.(1213-1215)Ctt>Ttt	p.L405F	IL6ST_ENST00000381293.2_Intron|IL6ST_ENST00000522633.2_3'UTR|IL6ST_ENST00000336909.5_Missense_Mutation_p.L405F|IL6ST_ENST00000381287.4_3'UTR|IL6ST_ENST00000536319.1_3'UTR|IL6ST_ENST00000381294.3_Missense_Mutation_p.L405F|IL6ST_ENST00000502326.3_Missense_Mutation_p.L405F|IL6ST_ENST00000381286.3_Intron	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer (gp130, oncostatin M receptor)	405	Fibronectin type-III 3.				interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				TTGCCAACAAGATTTCTTACT	0.388000			O		hepatocellular ca								24	86					0	0	0.000878237	0	0
PMFBP1	83449	broad.mit.edu	37	16	72153954	72153954	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:72153954C>T	ENST00000537465.1	-	20	2976	c.2818G>A	c.(2818-2820)Gaa>Aaa	p.E940K	PMFBP1_ENST00000355636.6_Missense_Mutation_p.E810K|PMFBP1_ENST00000537792.1_Intron|PMFBP1_ENST00000237353.10_Missense_Mutation_p.E935K			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	940										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				TTCTTGTTTTCCTGCTGCAAG	0.537000													22	71					0	0	0.00395357	0	0
SLC6A14	11254	broad.mit.edu	37	X	115590037	115590037	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:115590037G>A	ENST00000371900.4	+	14	1933	c.1845G>A	c.(1843-1845)ggG>ggA	p.G615G	SLC6A14_ENST00000463626.1_3'UTR	NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid transporter), member 14	615					cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)	AACATCGTGGGGAAAGATATA	0.398000													13	45					0	0	0.00185496	0	0
SLC36A2	153201	broad.mit.edu	37	5	150696446	150696446	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:150696446C>T	ENST00000335244.4	-	10	1513	c.1384G>A	c.(1384-1386)Gcc>Acc	p.A462T	SLC36A2_ENST00000450886.1_Missense_Mutation_p.A186T	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 2	462					cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCGTCCAGGGCCTGGTAGGTC	0.592000													8	21					0	0	0.00307968	0	0
CCDC144A	9720	broad.mit.edu	37	17	16593943	16593943	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:16593943C>T	ENST00000443444.2	+	1	369	c.229C>T	c.(229-231)Cgc>Tgc	p.R77C	CCDC144A_ENST00000399273.1_Missense_Mutation_p.R77C|CCDC144A_ENST00000456009.1_Missense_Mutation_p.R77C|RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.R77C|CCDC144A_ENST00000436374.1_3'UTR|CCDC144A_ENST00000360524.8_Missense_Mutation_p.R77C|CCDC144A_ENST00000340621.5_Missense_Mutation_p.R77C			A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	77																	GCACGACGTCCGCCTGGAAGA	0.647000													22	37					0	0	0.000878237	0	0
LCE1E	353135	broad.mit.edu	37	1	152759970	152759970	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:152759970G>A	ENST00000368770.3	+	2	248	c.195G>A	c.(193-195)ggG>ggA	p.G65G	LCE1E_ENST00000368771.1_Silent_p.G65G	NM_178353.1	NP_848130.1	Q5T753	LCE1E_HUMAN	late cornified envelope 1E	65	Cys-rich.				keratinization					lung(5)|stomach(1)	6	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCAGCTCTGGGGGCTGCTGCA	0.667000													7	46					0	0	0.00307968	0	0
DMBT1	1755	broad.mit.edu	37	10	124358388	124358388	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:124358388G>A	ENST00000338354.3	+	26	3161	c.3055G>A	c.(3055-3057)Gat>Aat	p.D1019N	DMBT1_ENST00000368956.2_Missense_Mutation_p.D520N|DMBT1_ENST00000368955.3_Missense_Mutation_p.D1009N|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000330163.4_Missense_Mutation_p.D520N|DMBT1_ENST00000344338.3_Missense_Mutation_p.D1009N|DMBT1_ENST00000368909.3_Missense_Mutation_p.D1019N			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1019	SRCR 8.				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.D1019N(3)		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)				CACCGTGTGCGATGACAGCTG	0.602000													35	104					0	0	0.00283554	0	0
ACAP1	9744	broad.mit.edu	37	17	7250350	7250350	+	Splice_Site	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:7250350G>A	ENST00000158762.3	+	14	1338	c.1131_splice	c.e14-1	p.G378_splice		NM_014716.3	NP_055531.1	Q15027	ACAP1_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	378	Required for formation of endosomal tubules when overexpressed with PIP5K1C.				intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding			NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						TCTCCCCCAGGGCTCAGGACA	0.672000													7	2					0	0	0.00198382	0	0
CSPP1	79848	broad.mit.edu	37	8	68007618	68007618	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:68007618C>T	ENST00000262210.5	+	6	632	c.601C>T	c.(601-603)Cct>Tct	p.P201S	CSPP1_ENST00000412460.1_5'UTR	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	236						centrosome|microtubule|spindle				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			TTCAGAGGGTCCTAGAAAAGA	0.388000													15	138					0	0	0.000566183	0	0
SV2B	9899	broad.mit.edu	37	15	91811827	91811827	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:91811827G>A	ENST00000394232.1	+	9	1835	c.1365G>A	c.(1363-1365)gtG>gtA	p.V455V	SV2B_ENST00000330276.4_Silent_p.V455V|SV2B_ENST00000545111.2_Silent_p.V304V	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	455					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			GGAAACTTGTGAATGATAAGT	0.453000													37	155					0	0	0.000953801	0	0
OR10G8	219869	broad.mit.edu	37	11	123901121	123901121	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:123901121G>A	ENST00000431524.1	+	1	825	c.792G>A	c.(790-792)agG>agA	p.R264R		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	264					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		CAGGCTCCAGGAAAGCTGTGG	0.537000													6	39					0	0	0.00307968	0	0
MXRA5	25878	broad.mit.edu	37	X	3240653	3240653	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:3240653C>T	ENST00000217939.6	-	5	3227	c.3073G>A	c.(3073-3075)Gaa>Aaa	p.E1025K		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1025						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)				ACACCTGGTTCCCCTATAGTA	0.433000													17	45					0	0	0.00074312	0	0
SYK	6850	broad.mit.edu	37	9	93639981	93639981	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:93639981G>A	ENST00000375754.4	+	10	1458	c.1310G>A	c.(1309-1311)gGg>gAg	p.G437E	SYK_ENST00000375747.1_Missense_Mutation_p.G414E|SYK_ENST00000375751.4_Missense_Mutation_p.G414E|SYK_ENST00000375746.1_Missense_Mutation_p.G437E	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	437	Protein kinase.				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	cytosol|T cell receptor complex	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						CGGATGATCGGGATATGCGAG	0.507000			T	"""ETV6, ITK"""	"""MDS, peripheral T-cell lymphoma"""								17	10					0	0	0.000958276	0	0
ARFGAP3	26286	broad.mit.edu	37	22	43195138	43195138	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr22:43195138G>A	ENST00000263245.5	-	15	1659	c.1440C>T	c.(1438-1440)ccC>ccT	p.P480P	ARFGAP3_ENST00000437119.2_Silent_p.P436P|ARFGAP3_ENST00000429508.2_Silent_p.P408P	NM_001142293.1|NM_014570.4	NP_001135765.1|NP_055385.3	Q9NP61	ARFG3_HUMAN	ADP-ribosylation factor GTPase activating protein 3	480					intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport	cytosol|Golgi membrane	ARF GTPase activator activity|protein transporter activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	11						CGGGGGCGTTGGGCAGCACAC	0.567000													6	51					0	0	0.00116845	0	0
OR7D2	162998	broad.mit.edu	37	19	9296777	9296777	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:9296777T>A	ENST00000344248.2	+	1	499	c.320T>A	c.(319-321)tTt>tAt	p.F107Y		NM_175883.2	NP_787079.1	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D, member 2	107					regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						TCCATGTTTTTTCCTATTCTG	0.512000													20	69					0	0	0.00152264	0	0
FOSB	2354	broad.mit.edu	37	19	45976161	45976161	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:45976161C>T	ENST00000353609.3	+	4	1500	c.908C>T	c.(907-909)tCg>tTg	p.S303L	FOSB_ENST00000586615.1_Missense_Mutation_p.S254L|ERCC1_ENST00000423698.2_Intron|FOSB_ENST00000417353.2_Missense_Mutation_p.S267L|FOSB_ENST00000591858.1_Missense_Mutation_p.S264L|FOSB_ENST00000443841.2_Missense_Mutation_p.S160L|FOSB_ENST00000592436.1_3'UTR|FOSB_ENST00000592811.1_3'UTR|FOSB_ENST00000585836.1_Missense_Mutation_p.S228L	NM_006732.2	NP_006723.2	P53539	FOSB_HUMAN	FBJ murine osteosarcoma viral oncogene homolog B	303					behavior|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	13		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00814)|Epithelial(262;0.18)|GBM - Glioblastoma multiforme(486;0.242)		TACACTTCTTCGTTTGTCCTC	0.617000													9	45					0	0	0.000978159	0	0
ZBTB40	9923	broad.mit.edu	37	1	22852823	22852823	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:22852823C>T	ENST00000404138.1	+	19	4165	c.3654C>T	c.(3652-3654)ctC>ctT	p.L1218L	ZBTB40_ENST00000375647.4_Silent_p.L1218L|ZBTB40_ENST00000374651.4_Silent_p.L1106L	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	1218					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		GCTCTGAGCTCGTGGCGGTGA	0.582000													14	66					0	0	0.00121646	0	0
SPTA1	6708	broad.mit.edu	37	1	158644127	158644127	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:158644127G>A	ENST00000368148.3	-	10	1522	c.1342C>T	c.(1342-1344)Cgg>Tgg	p.R448W	SPTA1_ENST00000368147.3_Missense_Mutation_p.R448W	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	448					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.R448W(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					ACCTTTTCCCGAACTTCATCA	0.368000													23	112					0	0	0.00229938	0	0
NDST4	64579	broad.mit.edu	37	4	115891740	115891740	+	Splice_Site	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:115891740C>T	ENST00000264363.2	-	4	1745	c.1066_splice	c.e4-1	p.G356_splice		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	356	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		CTCTTCAGTCCCTTTAAAACA	0.368000													4	11					0	0	0.00024832	0	0
C3AR1	719	broad.mit.edu	37	12	8212210	8212210	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:8212210G>A	ENST00000307637.4	-	2	775	c.572C>T	c.(571-573)cCa>cTa	p.P191L		NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN	complement component 3a receptor 1	191					blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		GTTTTCTAGTGGATCTCCATA	0.403000													17	69					0	0	0.000958276	0	0
ABLIM3	22885	broad.mit.edu	37	5	148619370	148619370	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:148619370G>A	ENST00000506113.1	+	12	1605	c.1123G>A	c.(1123-1125)Ggg>Agg	p.G375R	ABLIM3_ENST00000309868.7_Missense_Mutation_p.G375R|ABLIM3_ENST00000356541.3_Missense_Mutation_p.G313R|ABLIM3_ENST00000504238.1_Missense_Mutation_p.G313R|RP11-331K21.1_ENST00000512647.2_RNA|AC012613.2_ENST00000523176.1_RNA|ABLIM3_ENST00000326685.7_Missense_Mutation_p.G313R|RP11-331K21.1_ENST00000522685.1_RNA|ABLIM3_ENST00000519549.1_3'UTR|ABLIM3_ENST00000508983.1_Missense_Mutation_p.G375R			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	375					axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCCAGCCCGGGGTACATAGA	0.632000													6	24					0	0	0.00116845	0	0
BTC	685	broad.mit.edu	37	4	75695356	75695356	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:75695356G>A	ENST00000395743.3	-	2	435	c.75C>T	c.(73-75)atC>atT	p.I25I		NM_001729.2	NP_001720.1	P35070	BTC_HUMAN	betacellulin	25					positive regulation of cell division|positive regulation of cell proliferation	extracellular space|integral to membrane|plasma membrane|soluble fraction	epidermal growth factor receptor binding|growth factor activity			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	10			Lung(101;0.219)			CACAGTGAAGGATCACTAGAC	0.408000													14	40					0	0	0.00074312	0	0
ZNF195	7748	broad.mit.edu	37	11	3380779	3380779	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:3380779T>C	ENST00000354599.6	-	4	1347	c.1243A>G	c.(1243-1245)Act>Gct	p.T415A	ZNF195_ENST00000399602.4_Missense_Mutation_p.T487A|ZNF195_ENST00000343338.7_Missense_Mutation_p.T419A|ZNF195_ENST00000526601.1_Missense_Mutation_p.T468A|ZNF195_ENST00000429541.2_Missense_Mutation_p.T419A|ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000005082.9_Missense_Mutation_p.T464A	NM_001242843.1|NM_001256825.1|NM_007152.4	NP_001229772.1|NP_001243754.1|NP_009083.2	O14628	ZN195_HUMAN	zinc finger protein 195	487					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		TCAGAATGAGTTCTCTTATGG	0.428000													45	46					0	0	0.00321405	0	0
SBF2	81846	broad.mit.edu	37	11	10064411	10064411	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:10064411C>T	ENST00000256190.8	-	3	396	c.259G>A	c.(259-261)Gag>Aag	p.E87K	SBF2_ENST00000527019.1_5'UTR	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	87					myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		ATCTCTGCCTCATAGAAGGTT	0.413000													7	48					0	0	0.00198382	0	0
GSDMC	56169	broad.mit.edu	37	8	130789707	130789707	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:130789707T>A	ENST00000276708.4	-	2	1008	c.127A>T	c.(127-129)Aag>Tag	p.K43*		NM_031415.2	NP_113603.1	Q9BYG8	GSDMC_HUMAN	gasdermin C	43						mitochondrion				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						CGAGAATCCTTCTTCTTTCGT	0.393000													15	83					0	0	0.00400662	0	0
ADAMDEC1	27299	broad.mit.edu	37	8	24257714	24257714	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:24257714G>A	ENST00000538205.1	+	12	1353	c.806G>A	c.(805-807)gGa>gAa	p.G269E	RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAMDEC1_ENST00000522298.1_Missense_Mutation_p.G269E|ADAMDEC1_ENST00000256412.4_Missense_Mutation_p.G348E	NM_001145271.1	NP_001138743.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	348	Peptidase M12B.				integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		GCTCTTGTAGGAGTGATGTCA	0.373000													6	16					0	0	0.00116845	0	0
TRIP10	9322	broad.mit.edu	37	19	6750016	6750016	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:6750016C>T	ENST00000600428.1	+	11	1488	c.842C>T	c.(841-843)cCc>cTc	p.P281L	CTD-3128G10.6_ENST00000594056.1_RNA|TRIP10_ENST00000313244.9_Missense_Mutation_p.P445L|TRIP10_ENST00000313285.8_Missense_Mutation_p.P389L|TRIP10_ENST00000596758.1_Missense_Mutation_p.P389L			Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	445	Induction of membrane tubulation.				actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell projection|cytoskeleton|cytosol|Golgi apparatus|lysosome|perinuclear region of cytoplasm|phagocytic cup	GTPase activator activity|identical protein binding|lipid binding			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						AGCTTGGAGCCCCAGATCGCT	0.552000													12	49					0	0	0.00244969	0	0
SSPN	8082	broad.mit.edu	37	12	26377269	26377269	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:26377269C>T	ENST00000242729.2	+	2	500	c.323C>T	c.(322-324)tCa>tTa	p.S108L	RP11-283G6.4_ENST00000540392.1_RNA|SSPN_ENST00000535504.1_Missense_Mutation_p.S108L|SSPN_ENST00000540266.1_Missense_Mutation_p.S5L|SSPN_ENST00000422622.2_Missense_Mutation_p.S5L	NM_005086.4	NP_005077.2	Q14714	SSPN_HUMAN	sarcospan	108					cell adhesion|muscle contraction	cell junction|dystrophin-associated glycoprotein complex|integral to plasma membrane|postsynaptic membrane|sarcolemma|transport vesicle				kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	10	Colorectal(261;0.0847)					CTTTGTGTCTCATATCAGGTT	0.383000													53	244					0	0	0.00361006	0	0
TRIM36	55521	broad.mit.edu	37	5	114466386	114466386	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:114466386G>A	ENST00000513154.1	-	9	2025	c.1699C>T	c.(1699-1701)Cgt>Tgt	p.R567C	TRIM36_ENST00000282369.3_Missense_Mutation_p.R579C|TRIM36_ENST00000514154.1_Missense_Mutation_p.R424C			Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	579	B30.2/SPRY.					acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		GGTTCCACACGGAAGGCCCAG	0.458000													14	53					0	0	0.00316338	0	0
COL6A6	131873	broad.mit.edu	37	3	130287196	130287196	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:130287196G>A	ENST00000358511.6	+	5	2180	c.2149G>A	c.(2149-2151)Ggc>Agc	p.G717S	COL6A6_ENST00000453409.2_Missense_Mutation_p.G717S	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	717	Nonhelical region.|VWFA 4.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CCCCACCAAGGGCGCCCGGCC	0.507000													29	33					0	0	0.0024448	0	0
RASIP1	54922	broad.mit.edu	37	19	49243457	49243457	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:49243457G>A	ENST00000222145.4	-	2	287	c.83C>T	c.(82-84)cCc>cTc	p.P28L		NM_017805.2	NP_060275.2	Q5U651	RAIN_HUMAN	Ras interacting protein 1	28					signal transduction	Golgi stack|perinuclear region of cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		CTGCTTCCTGGGGGAATTGAT	0.657000													8	18					0	0	0.000274275	0	0
GIMAP1	170575	broad.mit.edu	37	7	150417206	150417206	+	Silent	SNP	C	C	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:150417206C>G	ENST00000307194.5	+	3	254	c.114C>G	c.(112-114)gcC>gcG	p.A38A		NM_130759.3	NP_570115.1			GTPase, IMAP family member 1											NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GAACAGGGGCCGGGAAGAGCG	0.602000													25	127					0	0	0.00395357	0	0
DCUN1D3	123879	broad.mit.edu	37	16	20871502	20871502	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:20871502G>A	ENST00000324344.3	-	3	906	c.621C>T	c.(619-621)gcC>gcT	p.A207A	DCUN1D3_ENST00000563934.1_Silent_p.A207A|ERI2_ENST00000564349.1_Intron	NM_173475.2	NP_775746.1	Q8IWE4	DCNL3_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 3	207	DCUN1.				negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|positive regulation of apoptosis|response to gamma radiation|response to UV-C	perinuclear region of cytoplasm				NS(2)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)	14				GBM - Glioblastoma multiforme(48;0.249)		GTTTCCACAGGGCAATGGCTA	0.498000													16	73					0	0	0.00074312	0	0
GK2	2712	broad.mit.edu	37	4	80328545	80328545	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:80328545G>A	ENST00000358842.3	-	1	827	c.810C>T	c.(808-810)ttC>ttT	p.F270F		NM_033214.2	NP_149991.2	Q14410	GLPK2_HUMAN	glycerol kinase 2	270					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						GTCCCTCCTGGAAGCACATTT	0.463000													6	63					0	0	0.00116845	0	0
OR4M2	390538	broad.mit.edu	37	15	22369418	22369418	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:22369418C>T	ENST00000332663.2	+	1	941	c.843C>T	c.(841-843)ttC>ttT	p.F281F	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	281					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CTTTAATATTCCCTTTACGTA	0.378000													7	34					0	0	0.00198382	0	0
GDNF	2668	broad.mit.edu	37	5	37816136	37816136	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:37816136C>T	ENST00000326524.2	-	3	452	c.253G>A	c.(253-255)Gtg>Atg	p.V85M	GDNF_ENST00000427982.1_Missense_Mutation_p.V102M|GDNF_ENST00000515058.1_Missense_Mutation_p.V59M|GDNF_ENST00000381826.4_Missense_Mutation_p.V76M|GDNF_ENST00000344622.4_Missense_Mutation_p.V59M	NM_000514.3	NP_000505.1	P39905	GDNF_HUMAN	glial cell derived neurotrophic factor	85					adult locomotory behavior|anti-apoptosis|axon guidance|branching involved in ureteric bud morphogenesis|enteric nervous system development|mRNA stabilization|negative regulation of neuron apoptosis|neural crest cell migration|peristalsis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of dopamine secretion|positive regulation of monooxygenase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|postganglionic parasympathetic nervous system development|regulation of dopamine uptake|signal transduction|sympathetic nervous system development	extracellular region	growth factor activity|protein homodimerization activity			NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(8)|skin(2)	15	all_lung(31;0.00118)					CTAGGAAGCACTGCCATTTGT	0.478000													31	76					0	0	0.00375469	0	0
PNKD	25953	broad.mit.edu	37	2	219206831	219206831	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:219206831C>T	ENST00000273077.4	+	7	796	c.745C>T	c.(745-747)Ctc>Ttc	p.L249F	PNKD_ENST00000258362.3_Missense_Mutation_p.L225F|AC021016.8_ENST00000411433.1_RNA|PNKD_ENST00000436005.2_Missense_Mutation_p.L189F	NM_015488.4	NP_056303.3	Q8N490	PNKD_HUMAN	paroxysmal nonkinesigenic dyskinesia	249						membrane|mitochondrion|nucleus	hydroxyacylglutathione hydrolase activity|zinc ion binding			NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	10		Renal(207;0.0474)		Epithelial(149;7.33e-07)|all cancers(144;0.000133)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCCCTCCTGCCTCTTCTCAGG	0.622000													12	8					0	0	0.00136819	0	0
ECT2	1894	broad.mit.edu	37	3	172474833	172474833	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:172474833C>T	ENST00000417960.1	+	5	745	c.268C>T	c.(268-270)Ccg>Tcg	p.P90S	ECT2_ENST00000540509.1_Missense_Mutation_p.P122S|ECT2_ENST00000441497.2_Missense_Mutation_p.P91S|ECT2_ENST00000392692.3_Missense_Mutation_p.P122S|ECT2_ENST00000232458.5_Missense_Mutation_p.P91S|ECT2_ENST00000427830.1_Missense_Mutation_p.P91S	NM_001258316.1	NP_001245245.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming sequence 2 oncogene	91					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			TTTGGATTCTCCGGAATTTGA	0.343000													43	148					0	0	0.00285205	0	0
GBA3	57733	broad.mit.edu	37	4	22749170	22749170	+	RNA	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:22749170C>T	ENST00000508166.1	+	0	640				GBA3_ENST00000503442.1_RNA|GBA3_ENST00000511446.1_RNA	NM_020973.4	NP_066024.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						AGGTATGTTTCCTCCGGGTAT	0.438000													20	65					0	0	0.00188189	0	0
MET	4233	broad.mit.edu	37	7	116380042	116380042	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:116380042G>A	ENST00000397752.3	+	4	1631	c.1431G>A	c.(1429-1431)gtG>gtA	p.V477V	MET_ENST00000436117.2_Silent_p.V477V|MET_ENST00000318493.6_Silent_p.V477V|MET_ENST00000495962.1_3'UTR	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene	477	Sema.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			CCCCTCATGTGAATTTTCTCC	0.403000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				26	123					0	0	0.000878237	0	0
CXCR5	643	broad.mit.edu	37	11	118764769	118764769	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:118764769C>T	ENST00000292174.4	+	2	692	c.516C>T	c.(514-516)acC>acT	p.T172T	BCL9L_ENST00000334801.3_3'UTR	NM_001716.4|NM_032966.2	NP_001707.1|NP_116743.1	P32302	CXCR5_HUMAN	chemokine (C-X-C motif) receptor 5	172					B cell activation|cellular component movement	integral to plasma membrane	C-X-C chemokine receptor activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)		CCTGTGGGACCATCTGGCTGG	0.622000													7	22					0	0	0.00198382	0	0
MUC7	4589	broad.mit.edu	37	4	71347075	71347075	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:71347075C>T	ENST00000413702.1	+	4	902	c.614C>T	c.(613-615)tCc>tTc	p.S205F	MUC7_ENST00000456088.1_Missense_Mutation_p.S205F|MUC7_ENST00000304887.5_Missense_Mutation_p.S205F	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	205	Thr-rich.					extracellular region	protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			CCACCATCTTCCTCAGCTCCA	0.592000													22	31					0	0	0.00332997	0	0
CAMTA1	23261	broad.mit.edu	37	1	7724488	7724488	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:7724488C>T	ENST00000303635.7	+	9	2088	c.1881C>T	c.(1879-1881)gtC>gtT	p.V627V	CAMTA1_ENST00000439411.2_Silent_p.V627V	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	627					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CCCTCCCCGTCGAGCAGAACA	0.647000			T	WWTR1	epitheliod hemangioendothelioma								17	66					0	0	0.00152264	0	0
DDN	23109	broad.mit.edu	37	12	49390579	49390579	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:49390579G>A	ENST00000421952.2	-	2	2101	c.2080C>T	c.(2080-2082)Ctc>Ttc	p.L694F		NM_015086.1	NP_055901.2	O94850	DEND_HUMAN	dendrin	694	Interaction with CD2AP and NPHS1 (By similarity).					dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						ACCCCGAAGAGGACCTCCTCG	0.552000											OREG0021778	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	27					0	0	0.00395357	0	0
CAB39	51719	broad.mit.edu	37	2	231683276	231683276	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:231683276C>T	ENST00000258418.5	+	9	1312	c.883C>T	c.(883-885)Ctc>Ttc	p.L295F	CAB39_ENST00000409788.3_Missense_Mutation_p.L295F|CAB39_ENST00000410084.3_Missense_Mutation_p.L295F	NM_016289.3	NP_057373.1	Q9Y376	CAB39_HUMAN	calcium binding protein 39	295					cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol	kinase binding			central_nervous_system(1)|large_intestine(1)|skin(1)	3		all_lung(227;4.63e-07)|all_hematologic(139;1.83e-06)|Lung NSC(271;2.11e-05)|Acute lymphoblastic leukemia(138;5.51e-05)|Hepatocellular(293;0.0207)|Lung SC(224;0.187)		all cancers(144;1.64e-12)|Epithelial(121;5.29e-11)|LUSC - Lung squamous cell carcinoma(224;0.0154)|Lung(119;0.0177)|COAD - Colon adenocarcinoma(134;0.226)		CCTAGACATCCTCCTCAAGAA	0.488000													6	41					0	0	0.000274275	0	0
CD96	10225	broad.mit.edu	37	3	111286448	111286448	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:111286448A>T	ENST00000352690.4	+	3	737	c.497A>T	c.(496-498)aAt>aTt	p.N166I	CD96_ENST00000438817.2_Missense_Mutation_p.N166I|CD96_ENST00000283285.5_Missense_Mutation_p.N166I	NM_005816.4	NP_005807.1	P40200	TACT_HUMAN	CD96 molecule	166	Ig-like V-type 2.				cell adhesion|immune response|regulation of immune response	integral to plasma membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						TGCTTTCAAAATAGCTCCTCA	0.368000									Opitz Trigonocephaly syndrome				9	34					0	0	0.000442599	0	0
ZBED4	9889	broad.mit.edu	37	22	50280444	50280444	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr22:50280444C>T	ENST00000216268.4	+	2	3611	c.3134C>T	c.(3133-3135)gCc>gTc	p.A1045V		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	1045						cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		GACGTGGCTGCCTCCCACAGG	0.537000													9	46					0	0	0.000673444	0	0
FSD2	123722	broad.mit.edu	37	15	83456026	83456026	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:83456026C>T	ENST00000334574.8	-	2	298	c.117G>A	c.(115-117)gaG>gaA	p.E39E	FSD2_ENST00000541889.1_Silent_p.E39E			A1L4K1	FSD2_HUMAN	fibronectin type III and SPRY domain containing 2	39										breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						TCCTAGTGTTCTCTTCTGGAA	0.498000													15	106					0	0	0.000566183	0	0
DSCAML1	57453	broad.mit.edu	37	11	117307868	117307868	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:117307868C>T	ENST00000321322.6	-	26	4871	c.4870G>A	c.(4870-4872)Gcc>Acc	p.A1624T	DSCAML1_ENST00000527706.1_Missense_Mutation_p.A1354T	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1564					axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GCGAACTGGGCTGTTTCATTG	0.617000													10	27					0	0	0.000673444	0	0
FYB	2533	broad.mit.edu	37	5	39202605	39202605	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:39202605G>A	ENST00000351578.6	-	2	648	c.458C>T	c.(457-459)cCg>cTg	p.P153L	FYB_ENST00000512982.1_Missense_Mutation_p.P153L|FYB_ENST00000505428.1_Missense_Mutation_p.P153L|FYB_ENST00000540520.1_Missense_Mutation_p.P163L|FYB_ENST00000515010.1_Missense_Mutation_p.P153L	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	153					cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			CCCAGATTTCGGGCCTAGTGG	0.453000													17	71					0	0	0.00074312	0	0
MCHR2	84539	broad.mit.edu	37	6	100382357	100382357	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:100382357G>A	ENST00000281806.2	-	5	938	c.624C>T	c.(622-624)ttC>ttT	p.F208F	MCHR2_ENST00000445970.1_Silent_p.F208F|MCHR2_ENST00000369212.1_Silent_p.F208F	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	208						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		AGGGTAGAGGGAAAAAAAAAG	0.343000													12	46					0	0	0.00185496	0	0
MGAM	8972	broad.mit.edu	37	7	141758086	141758086	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:141758086C>T	ENST00000475668.2	+	31	3831	c.3777C>T	c.(3775-3777)atC>atT	p.I1259I	MGAM_ENST00000549489.2_Silent_p.I1259I			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1259	Glucoamylase.				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)	ACTCTGAGATCGCCAGCTTGT	0.498000													30	226					0	0	0.0024448	0	0
SLC9C1	285335	broad.mit.edu	37	3	111923085	111923085	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:111923085G>A	ENST00000305815.5	-	17	2404	c.2152C>T	c.(2152-2154)Cgt>Tgt	p.R718C	SLC9C1_ENST00000487372.1_Missense_Mutation_p.R670C	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	718					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										CGTAGTATACGAAAAAATTGA	0.264000													7	33					0	0	0.000274275	0	0
EFR3A	23167	broad.mit.edu	37	8	132968031	132968031	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:132968031T>C	ENST00000254624.5	+	7	880	c.655T>C	c.(655-657)Tct>Cct	p.S219P	EFR3A_ENST00000519656.1_Missense_Mutation_p.S183P|EFR3A_ENST00000334503.4_Missense_Mutation_p.S219P	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	219						plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			AGGCCCTCCTTCTTCTCCTTC	0.353000													15	83					0	0	0.000958276	0	0
MCTP1	79772	broad.mit.edu	37	5	94230510	94230510	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:94230510C>T	ENST00000515393.1	-	11	1682	c.1683G>A	c.(1681-1683)agG>agA	p.R561R	MCTP1_ENST00000505208.1_Silent_p.R340R|MCTP1_ENST00000312216.8_Silent_p.R340R|MCTP1_ENST00000429576.2_Silent_p.R294R|MCTP1_ENST00000505078.1_Silent_p.R77R	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	561					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		GCGTCTGTTCCCTACTGAGGG	0.502000													10	26					0	0	0.00136819	0	0
MUSK	4593	broad.mit.edu	37	9	113547146	113547146	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:113547146C>A	ENST00000416899.2	+	10	1538	c.1412C>A	c.(1411-1413)cCt>cAt	p.P471H	MUSK_ENST00000374438.1_Intron|MUSK_ENST00000374448.4_Missense_Mutation_p.P479H|MUSK_ENST00000189978.5_Missense_Mutation_p.P479H			O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	479					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						CCAAATCTGCCTTCCTCCTCC	0.398000													11	50					1.36491e-13	3.99132e-13	0.00185496	1	0
NSUN2	54888	broad.mit.edu	37	5	6620227	6620227	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:6620227G>A	ENST00000264670.6	-	7	1118	c.807C>T	c.(805-807)gtC>gtT	p.V269V	NSUN2_ENST00000539938.1_Silent_p.V33V|NSUN2_ENST00000506139.1_Silent_p.V234V	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN	NOP2/Sun RNA methyltransferase family, member 2	269						cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						ACCTGCAAGGGACATCACATA	0.408000													7	66					0	0	0.00307968	0	0
C9	735	broad.mit.edu	37	5	39311367	39311367	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:39311367G>A	ENST00000263408.4	-	7	1078	c.983C>T	c.(982-984)aCt>aTt	p.T328I		NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	328	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			TTCATAGGTAGTTGGCAAAGC	0.383000													8	46					0	0	0.00307968	0	0
C1GALT1	56913	broad.mit.edu	37	7	7283248	7283248	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:7283248C>T	ENST00000436587.2	+	4	1205	c.982C>T	c.(982-984)Cca>Tca	p.P328S	C1GALT1_ENST00000223122.2_Missense_Mutation_p.P328S	NM_020156.3	NP_064541.1	Q9NS00	C1GLT_HUMAN	core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1	328					angiogenesis|cell differentiation|kidney development	integral to membrane	glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity|metal ion binding			breast(1)|kidney(1)|lung(3)|prostate(1)|urinary_tract(1)	7				UCEC - Uterine corpus endometrioid carcinoma (126;0.177)		TCATCTTCGTCCATATGGTTA	0.348000													32	178					0	0	0.00283554	0	0
KCNB2	9312	broad.mit.edu	37	8	73848772	73848772	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:73848772G>A	ENST00000523207.1	+	3	1770	c.1182G>A	c.(1180-1182)ggG>ggA	p.G394G		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	394					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			CATTACTAGGGAAAATTGTGG	0.438000													34	64					0	0	0.00128727	0	0
CD2AP	23607	broad.mit.edu	37	6	47544323	47544323	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:47544323G>A	ENST00000359314.5	+	7	1249	c.793G>A	c.(793-795)Gaa>Aaa	p.E265K		NM_012120.2	NP_036252.1	Q9Y5K6	CD2AP_HUMAN	CD2-associated protein	265					cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension	cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle	SH3 domain binding|structural constituent of cytoskeleton			kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			AACAGATACCGAAGGTAAAAT	0.323000													31	225					0	0	0.0024448	0	0
COL8A1	1295	broad.mit.edu	37	3	99513236	99513236	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:99513236G>A	ENST00000261037.3	+	5	871	c.491G>A	c.(490-492)gGa>gAa	p.G164E	COL8A1_ENST00000273342.4_Missense_Mutation_p.G164E	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN	collagen, type VIII, alpha 1	164	Triple-helical region (COL1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						GGTATGCCTGGAATGCCAGGG	0.562000													10	14					0	0	0.000673444	0	0
TMEM2	23670	broad.mit.edu	37	9	74359987	74359987	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:74359987G>A	ENST00000377044.4	-	4	1520	c.981C>T	c.(979-981)atC>atT	p.I327I	TMEM2_ENST00000377066.5_Silent_p.I327I	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	327						integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		GGATCATCTGGATGGTTCCTT	0.522000													10	43					0	0	0.000978159	0	0
PRKG2	5593	broad.mit.edu	37	4	82010939	82010939	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:82010939G>A	ENST00000395578.1	-	19	2328	c.2212C>T	c.(2212-2214)Cac>Tac	p.H738Y	PRKG2_ENST00000418486.2_Missense_Mutation_p.H709Y|PRKG2_ENST00000264399.1_Missense_Mutation_p.H738Y|PRKG2_ENST00000509169.1_5'UTR|PRKG2_ENST00000545647.1_Missense_Mutation_p.H318Y			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	738	AGC-kinase C-terminal.				platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						AAGTAGCTGTGATCTATGGGT	0.368000													7	40					0	0	0.00198382	0	0
FBN3	84467	broad.mit.edu	37	19	8175830	8175830	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:8175830C>T	ENST00000600128.1	-	34	4646	c.4232G>A	c.(4231-4233)gGg>gAg	p.G1411E	FBN3_ENST00000601739.1_Missense_Mutation_p.G1411E|FBN3_ENST00000270509.2_Missense_Mutation_p.G1411E			Q75N90	FBN3_HUMAN	fibrillin 3	1411	EGF-like 22; 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						ACAGAGGTTCCCTTGCGCACA	0.632000													12	37					0	0	0.000978159	0	0
TRPM2	7226	broad.mit.edu	37	21	45798946	45798946	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr21:45798946G>A	ENST00000397928.1	+	8	1526	c.1081G>A	c.(1081-1083)Gac>Aac	p.D361N	TRPM2_ENST00000397932.2_Missense_Mutation_p.D361N|TRPM2_ENST00000300481.9_Missense_Mutation_p.D361N|TRPM2_ENST00000300482.5_Missense_Mutation_p.D361N|TRPM2_ENST00000498430.1_3'UTR	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	361						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CCGCGTGGCCGACGTCATTGC	0.617000													8	24					0	0	0.00307968	0	0
TNFSF4	7292	broad.mit.edu	37	1	173176298	173176298	+	Silent	SNP	G	G	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:173176298G>C	ENST00000281834.3	-	1	154	c.18C>G	c.(16-18)ccC>ccG	p.P6P		NM_003326.3	NP_003317.1	P23510	TNFL4_HUMAN	tumor necrosis factor (ligand) superfamily, member 4	6					acute inflammatory response|cellular response to lipopolysaccharide|cellular response to prostaglandin E stimulus|chemokine (C-C motif) ligand 11 production|defense response to nematode|interleukin-4-dependent isotype switching to IgE isotypes|memory T cell activation|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of regulatory T cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T-helper 1 cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of alpha-beta T cell proliferation|positive regulation of B cell activation|positive regulation of immunoglobulin mediated immune response|positive regulation of immunoglobulin secretion|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-6 production|positive regulation of memory T cell differentiation|positive regulation of T cell cytokine production|positive regulation of T-helper 2 cell differentiation|positive regulation of type 2 immune response|response to virus|signal transduction|T-helper 2 cell activation	cell surface|extracellular space|integral to plasma membrane	cytokine activity			breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|urinary_tract(1)	12						TCTCTTCCAGGGGTTGGACCC	0.498000													10	27					0	0	0.00136819	0	0
MIR525	574470	broad.mit.edu	37	19	54200848	54200848	+	RNA	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:54200848C>T	ENST00000384978.1	+	0	62					NR_030192.1																						GAAGGCGCTTCCCTTTAGAGC	0.423000													19	15					0	0	0.00229938	0	0
AGMAT	79814	broad.mit.edu	37	1	15904240	15904240	+	Silent	SNP	C	C	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:15904240C>A	ENST00000375826.3	-	5	982	c.840G>T	c.(838-840)ctG>ctT	p.L280L	DNAJC16_ENST00000483270.1_Intron	NM_024758.4	NP_079034.3	Q9BSE5	SPEB_HUMAN	agmatine ureohydrolase (agmatinase)	280					putrescine biosynthetic process|spermidine biosynthetic process	mitochondrion	agmatinase activity|metal ion binding			endometrium(1)|kidney(2)|large_intestine(6)|lung(2)|skin(1)	12		Breast(348;0.000207)|Colorectal(325;0.000258)|Lung NSC(340;0.000359)|all_lung(284;0.000486)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.93e-07)|COAD - Colon adenocarcinoma(227;3.91e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000121)|KIRC - Kidney renal clear cell carcinoma(229;0.00257)|STAD - Stomach adenocarcinoma(313;0.00734)|READ - Rectum adenocarcinoma(331;0.0649)		AGGCAGGATCCAGAGCGTCAA	0.532000													5	45					0.000602214	0.00174187	0.000602214	1	0
PRUNE2	158471	broad.mit.edu	37	9	79323513	79323513	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:79323513T>C	ENST00000428286.1	-	8	3800	c.2600A>G	c.(2599-2601)gAt>gGt	p.D867G	PRUNE2_ENST00000376718.3_Missense_Mutation_p.D1226G			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1226					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CATGTCTTTATCTCTCATGAC	0.433000													14	23					0	0	0.00316338	0	0
PDYN	5173	broad.mit.edu	37	20	1961226	1961226	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:1961226C>T	ENST00000217305.2	-	4	733	c.508G>A	c.(508-510)Gag>Aag	p.E170K	RP4-684O24.5_ENST00000446562.1_RNA|PDYN_ENST00000540134.1_Missense_Mutation_p.E170K|PDYN_ENST00000539905.1_Missense_Mutation_p.E170K	NM_001190892.1|NM_001190898.2|NM_024411.4	NP_001177821.1|NP_001177827.1|NP_077722.1	P01213	PDYN_HUMAN	prodynorphin	170					cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TTGACCTGCTCCTTGGGGTCC	0.592000													10	38					0	0	0.000673444	0	0
GPR174	84636	broad.mit.edu	37	X	78427049	78427049	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:78427049C>T	ENST00000276077.1	+	1	581	c.545C>T	c.(544-546)tCc>tTc	p.S182F		NM_032553.1	NP_115942.1	Q9BXC1	GP174_HUMAN	G protein-coupled receptor 174	182						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						CTGGCCCAGTCCGTTGTTATG	0.448000										HNSCC(63;0.18)			4	16					0	0	0.000602214	0	0
EP400	57634	broad.mit.edu	37	12	132505633	132505633	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:132505633C>T	ENST00000333577.4	+	24	4674	c.4565C>T	c.(4564-4566)gCc>gTc	p.A1522V	EP400_ENST00000389562.2_Missense_Mutation_p.A1485V|EP400_ENST00000389561.2_Missense_Mutation_p.A1486V|EP400_ENST00000330386.6_Intron|EP400_ENST00000332482.4_Missense_Mutation_p.A1449V			Q96L91	EP400_HUMAN	E1A binding protein p400	1522	Poly-Ala.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GCAGCAGCAGCCCCGTTTCAG	0.488000													10	66					0	0	0.00244969	0	0
PPM1H	57460	broad.mit.edu	37	12	63042297	63042297	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:63042297G>A	ENST00000228705.6	-	10	1817	c.1517C>T	c.(1516-1518)cCt>cTt	p.P506L		NM_020700.1	NP_065751.1	Q9ULR3	PPM1H_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1H	506	PP2C-like.						phosphoprotein phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)	18			GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209)	GBM - Glioblastoma multiforme(28;0.0126)		ATGTATTAAAGGAATGACATA	0.527000													6	39					0	0	0.00198382	0	0
L1CAM	3897	broad.mit.edu	37	X	153128946	153128946	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:153128946G>A	ENST00000370060.1	-	27	3705	c.3516C>T	c.(3514-3516)acC>acT	p.T1172T	L1CAM_ENST00000361699.4_Silent_p.T1172T|L1CAM_ENST00000361981.3_Silent_p.T1167T|L1CAM_ENST00000543994.1_Silent_p.T1174T|L1CAM_ENST00000370055.1_Silent_p.T1167T|L1CAM_ENST00000538883.1_Silent_p.T1174T|L1CAM_ENST00000370057.3_Silent_p.T1172T	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	1172					axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ACTCGCCGAAGGTCTCATCTT	0.617000													12	10					0	0	0.00244969	0	0
SERPINB12	89777	broad.mit.edu	37	18	61233861	61233861	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:61233861G>A	ENST00000382768.1	+	7	895	c.895G>A	c.(895-897)Gaa>Aaa	p.E299K	SERPINB12_ENST00000269491.1_Missense_Mutation_p.E279K			Q96P63	SPB12_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 12	279					negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						AATCACCTATGAAAAAATGGT	0.448000													107	53					0	0	0.00361006	0	0
USH2A	7399	broad.mit.edu	37	1	216595568	216595568	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:216595568G>A	ENST00000366943.2	-	2	497	c.111C>T	c.(109-111)ttC>ttT	p.F37F	USH2A_ENST00000366942.3_Silent_p.F37F|USH2A_ENST00000307340.3_Silent_p.F37F			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	37					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CCAGCCTTGGGAAAAGACCTC	0.463000										HNSCC(13;0.011)			7	33					0	0	0.00198382	0	0
CUL2	8453	broad.mit.edu	37	10	35333707	35333707	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:35333707G>A	ENST00000374748.1	-	8	909	c.596C>T	c.(595-597)cCc>cTc	p.P199L	CUL2_ENST00000374749.3_Missense_Mutation_p.P199L|CUL2_ENST00000374742.1_Missense_Mutation_p.P199L|CUL2_ENST00000374751.3_Missense_Mutation_p.P199L|CUL2_ENST00000602371.1_Missense_Mutation_p.P142L|CUL2_ENST00000537177.1_Missense_Mutation_p.P218L|CUL2_ENST00000374746.1_Missense_Mutation_p.P199L			Q13617	CUL2_HUMAN	cullin 2	199					cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						TACCTTTAAGGGGAATTTTTT	0.323000													11	55					0	0	0.00136819	0	0
PLCB4	5332	broad.mit.edu	37	20	9365044	9365044	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:9365044C>T	ENST00000378501.2	+	11	1065	c.1050C>T	c.(1048-1050)ctC>ctT	p.L350L	PLCB4_ENST00000278655.4_Silent_p.L350L|PLCB4_ENST00000334005.3_Silent_p.L350L|PLCB4_ENST00000378473.3_Silent_p.L350L|PLCB4_ENST00000414679.2_Silent_p.L350L|PLCB4_ENST00000378493.1_Silent_p.L350L|PLCB4_ENST00000492632.1_3'UTR	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	350	PI-PLC X-box.				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						GACAGGTTCTCCTGGCTGGTT	0.428000													16	53					0	0	0.00121646	0	0
ILDR2	387597	broad.mit.edu	37	1	166927179	166927179	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:166927179G>A	ENST00000271417.3	-	2	261	c.206C>T	c.(205-207)tCc>tTc	p.S69F	ILDR2_ENST00000526687.1_Missense_Mutation_p.S69F|ILDR2_ENST00000529387.1_Missense_Mutation_p.S69F|ILDR2_ENST00000469934.2_Missense_Mutation_p.S69F|ILDR2_ENST00000528703.1_Missense_Mutation_p.S69F|ILDR2_ENST00000529071.1_Missense_Mutation_p.S69F|ILDR2_ENST00000525740.1_Missense_Mutation_p.S69F	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	69	Ig-like V-type.					integral to membrane				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						CATGCCCAAGGATTCTCCCAT	0.547000													5	42					0	0	0.000602214	0	0
PPFIA4	8497	broad.mit.edu	37	1	203037626	203037626	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:203037626C>T	ENST00000367240.2	+	26	3658	c.3131C>T	c.(3130-3132)tCt>tTt	p.S1044F	PPFIA4_ENST00000272198.6_Missense_Mutation_p.S559F|PPFIA4_ENST00000447715.2_Missense_Mutation_p.S1043F|PPFIA4_ENST00000599966.1_Missense_Mutation_p.S550F|PPFIA4_ENST00000295706.4_Missense_Mutation_p.S550F|PPFIA4_ENST00000414050.2_Missense_Mutation_p.S772F			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	559					cell communication	cell surface|cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						TGGGTCCAGTCTATTGGGCTC	0.557000													5	16					0	0	0.000602214	0	0
ZSCAN1	284312	broad.mit.edu	37	19	58565251	58565251	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:58565251G>A	ENST00000282326.1	+	6	1306	c.1059G>A	c.(1057-1059)cgG>cgA	p.R353R		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	353					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		AAGCCCCCCGGAGCAAGGGCC	0.662000													13	7					0	0	0.00244969	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110460499	110460499	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:110460499C>T	ENST00000378402.5	+	39	6008	c.5904C>T	c.(5902-5904)atC>atT	p.I1968I		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1968	IPT/TIG 12.				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)			TGCAGTGCATCGTGGGAGATC	0.433000										HNSCC(38;0.096)			13	42					0	0	0.00185496	0	0
PKDREJ	10343	broad.mit.edu	37	22	46653000	46653000	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr22:46653000C>T	ENST00000253255.5	-	1	6219	c.6220G>A	c.(6220-6222)Gat>Aat	p.D2074N		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	2074					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		AGGCGCACATCGTAGAAGAAT	0.463000													8	30					0	0	0.00307968	0	0
DPF3	8110	broad.mit.edu	37	14	73138024	73138024	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:73138024C>T	ENST00000541685.1	-	9	906	c.894G>A	c.(892-894)agG>agA	p.R298R	DPF3_ENST00000546183.1_Silent_p.R308R|DPF3_ENST00000557704.1_5'UTR|DPF3_ENST00000556509.1_Intron	NM_012074.3	NP_036206.3	Q92784	DPF3_HUMAN	D4, zinc and double PHD fingers, family 3	127					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex	nucleic acid binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)	22				BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		CCTTCTCCTTCCTGCCTTCTC	0.463000													10	45					0	0	0.00136819	0	0
KCNJ3	3760	broad.mit.edu	37	2	155711304	155711304	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:155711304C>T	ENST00000295101.2	+	3	1462	c.985C>T	c.(985-987)Cct>Tct	p.P329S	KCNJ3_ENST00000493505.1_3'UTR|KCNJ3_ENST00000544049.1_3'UTR	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	329					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	TCGTTTTTTTCCTGTAATTTC	0.388000													14	30					0	0	0.00316338	0	0
STH	246744	broad.mit.edu	37	17	44076766	44076766	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:44076766C>T	ENST00000537309.1	+	1	151	c.121C>T	c.(121-123)Cag>Tag	p.Q41*	MAPT_ENST00000340799.5_Intron|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000415613.2_Intron|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000571987.1_Intron|MAPT_ENST00000344290.5_Intron|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000574436.1_Intron|MAPT_ENST00000262410.5_Intron|MAPT_ENST00000570299.1_Intron	NM_001007532.2	NP_001007533.1	Q8IWL8	STH_HUMAN	saitohin	41						cytoplasm|nucleus				endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						GTGGATGATTCAGGTTGCCAG	0.522000													11	47					0	0	0.00316338	0	0
POLR3A	11128	broad.mit.edu	37	10	79781441	79781441	+	Splice_Site	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:79781441C>T	ENST00000372371.3	-	8	1186		c.e8-1			NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa						innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			CTAAATCGACCTAAATAGCCA	0.488000													9	26					0	0	0.000442599	0	0
GPNMB	10457	broad.mit.edu	37	7	23300152	23300152	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:23300152C>T	ENST00000258733.4	+	6	1073	c.778C>T	c.(778-780)Ccc>Tcc	p.P260S	GPNMB_ENST00000453162.2_Missense_Mutation_p.P202S|GPNMB_ENST00000539136.1_Missense_Mutation_p.P161S|GPNMB_ENST00000381990.2_Missense_Mutation_p.P260S			Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	260	PKD.				negative regulation of cell proliferation	melanosome				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			CAAAGATCTCCCCATTATGTT	0.413000													19	114					0	0	0.00188189	0	0
ATG2B	55102	broad.mit.edu	37	14	96811707	96811707	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:96811707G>A	ENST00000359933.4	-	3	1234	c.341C>T	c.(340-342)cCt>cTt	p.P114L		NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN	autophagy related 2B	114										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)		CCAATACATAGGCTCAGAACC	0.338000													8	11					0	0	0.00307968	0	0
FAT2	2196	broad.mit.edu	37	5	150905352	150905352	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:150905352C>T	ENST00000261800.5	-	17	10495	c.10483G>A	c.(10483-10485)Gaa>Aaa	p.E3495K		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3495	Cadherin 31.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGATACCATTCCTGAGCCCTC	0.567000													6	24					0	0	0.00307968	0	0
RIOK2	55781	broad.mit.edu	37	5	96512891	96512891	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:96512891T>C	ENST00000283109.3	-	4	495	c.427A>G	c.(427-429)Aaa>Gaa	p.K143E	CTD-2215E18.1_ENST00000509481.1_Intron|RIOK2_ENST00000508447.1_Missense_Mutation_p.K143E	NM_018343.2	NP_060813.2	Q9BVS4	RIOK2_HUMAN	RIO kinase 2	143							ATP binding|protein serine/threonine kinase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|urinary_tract(2)	23		all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0657)		TGCCTATGTTTATGATAATCG	0.338000													26	110					0	0	0.00209593	0	0
PGA5	5222	broad.mit.edu	37	11	61017144	61017144	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:61017144C>T	ENST00000312403.5	+	7	962	c.777C>T	c.(775-777)atC>atT	p.I259I	PGA4_ENST00000422676.2_Silent_p.I259I|PGA5_ENST00000451616.2_Silent_p.I105I|PGA5_ENST00000541528.1_5'UTR	NM_014224.2	NP_055039.1	P00790	PEPA_HUMAN	pepsinogen 5, group I (pepsinogen A)	259					digestion|proteolysis	extracellular region	aspartic-type endopeptidase activity			large_intestine(1)|skin(1)	2						CCCTCAGCATCACCATGAACG	0.592000													13	63					0	0	0.00400662	0	0
UGT2A1	10941	broad.mit.edu	37	4	70455137	70455137	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:70455137A>T	ENST00000503640.1	-	6	1592	c.1537T>A	c.(1537-1539)Tcc>Acc	p.S513T	UGT2A1_ENST00000512704.1_Missense_Mutation_p.S469T|UGT2A2_ENST00000457664.2_Missense_Mutation_p.S522T|UGT2A1_ENST00000286604.4_Missense_Mutation_p.S513T|UGT2A1_ENST00000514019.1_Missense_Mutation_p.S679T	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	513					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TTTTGACAGGAAAACAAACAA	0.348000													5	36					0	0	0.000602214	0	0
TNPO3	23534	broad.mit.edu	37	7	128614962	128614962	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:128614962G>A	ENST00000393245.1	-	18	2708	c.2335C>T	c.(2335-2337)Cac>Tac	p.H779Y	TNPO3_ENST00000471234.1_Missense_Mutation_p.H681Y|TNPO3_ENST00000482320.1_Missense_Mutation_p.H679Y|TNPO3_ENST00000471166.1_Missense_Mutation_p.H779Y|TNPO3_ENST00000265388.5_Missense_Mutation_p.H745Y	NM_012470.3	NP_036602.1	Q9Y5L0	TNPO3_HUMAN	transportin 3	745					splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						GTGTCAGGGTGATTCTGGAGA	0.443000													8	88					0	0	0.000274275	0	0
CTNNA2	1496	broad.mit.edu	37	2	80835355	80835355	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:80835355G>A	ENST00000466387.1	+	21	3066	c.2342G>A	c.(2341-2343)cGa>cAa	p.R781Q	CTNNA2_ENST00000402739.4_Missense_Mutation_p.R781Q|CTNNA2_ENST00000361291.4_Missense_Mutation_p.R815Q|CTNNA2_ENST00000496558.1_Missense_Mutation_p.R781Q|AC008067.2_ENST00000430876.1_RNA|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000343114.3_Missense_Mutation_p.R460Q|CTNNA2_ENST00000541047.1_Missense_Mutation_p.R781Q			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	781					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						TACCTTCAACGAATTGCCTTG	0.413000													8	20					0	0	0.00307968	0	0
ACOT12	134526	broad.mit.edu	37	5	80626289	80626289	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:80626289G>A	ENST00000307624.3	-	15	1620	c.1592C>T	c.(1591-1593)tCc>tTc	p.S531F	ACOT12_ENST00000508234.1_5'UTR	NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	531	START.				acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		TTCTTCAATGGATTTTGACCA	0.363000													32	33					0	0	0.0024448	0	0
TJP2	9414	broad.mit.edu	37	9	71842944	71842944	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:71842944C>T	ENST00000377245.4	+	9	1575	c.1367C>T	c.(1366-1368)cCc>cTc	p.P456L	TJP2_ENST00000539225.1_Missense_Mutation_p.P487L|TJP2_ENST00000535702.1_Missense_Mutation_p.P460L|TJP2_ENST00000348208.4_Missense_Mutation_p.P456L|TJP2_ENST00000453658.2_Missense_Mutation_p.P433L|TJP2_ENST00000265384.7_Missense_Mutation_p.P456L	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	456					cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						GGTGCGACACCCACTCCCTTT	0.493000													8	13					0	0	0.000274275	0	0
KIF1B	23095	broad.mit.edu	37	1	10356644	10356644	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:10356644C>T	ENST00000377086.1	+	20	1984	c.1782C>T	c.(1780-1782)atC>atT	p.I594I	KIF1B_ENST00000377083.1_Silent_p.I548I|KIF1B_ENST00000377093.4_Silent_p.I548I|KIF1B_ENST00000263934.6_Silent_p.I548I|KIF1B_ENST00000377081.1_Silent_p.I594I			O60333	KIF1B_HUMAN	kinesin family member 1B	594	FHA.				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		TCTTAGTTATCGTGACCTTAG	0.438000													8	19					0	0	0.000274275	0	0
OR51Q1	390061	broad.mit.edu	37	11	5443436	5443436	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:5443436C>T	ENST00000300778.4	+	1	96	c.6C>T	c.(4-6)tcC>tcT	p.S2S	HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	2					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGTCATGTCCCAGGTGACTA	0.448000													9	46					0	0	0.000442599	0	0
ROBO3	64221	broad.mit.edu	37	11	124742816	124742816	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:124742816G>A	ENST00000397801.1	+	9	1559	c.1367G>A	c.(1366-1368)gGa>gAa	p.G456E	ROBO3_ENST00000538940.1_Missense_Mutation_p.G434E	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	456	Ig-like C2-type 5.				axon midline choice point recognition	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		ATCCTCCAGGGACCAGCCAAT	0.627000													3	5					0	0	6.4e-05	0	0
SEMA3E	9723	broad.mit.edu	37	7	83032082	83032082	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:83032082G>A	ENST00000307792.3	-	10	1476	c.1009C>T	c.(1009-1011)Cga>Tga	p.R337*	SEMA3E_ENST00000427262.1_Nonsense_Mutation_p.R277*	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	337	Sema.				axon guidance	extracellular space|membrane	receptor activity	p.R337*(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				GCATGCCCTCGAAAAATATTA	0.403000													4	21					0	0	0.000602214	0	0
A2M	2	broad.mit.edu	37	12	9241798	9241798	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:9241798G>A	ENST00000318602.7	-	22	3075	c.2768C>T	c.(2767-2769)tCa>tTa	p.S923L		NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN	alpha-2-macroglobulin	923					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)	ACTCTTACCTGATGGACAAAG	0.328000													5	17					0	0	0.00198382	0	0
EPHB1	2047	broad.mit.edu	37	3	134920471	134920471	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:134920471C>A	ENST00000398015.3	+	12	2656	c.2286C>A	c.(2284-2286)gaC>gaA	p.D762E	EPHB1_ENST00000493838.1_Missense_Mutation_p.D323E	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	762	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						AGGTGTCCGACTTTGGCCTCT	0.532000													5	25					0.000602214	0.00174187	0.000602214	1	0
AGBL1	123624	broad.mit.edu	37	15	86806105	86806105	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:86806105G>A	ENST00000441037.2	+	9	1023	c.928G>A	c.(928-930)Gag>Aag	p.E310K	AGBL1_ENST00000421325.2_Missense_Mutation_p.E310K|AGBL1_ENST00000389298.3_Missense_Mutation_p.E41K	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	310					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						GATGTGTCTTGAGCTCTCCTA	0.473000													3	2					0	0	0.00024832	0	0
KIF18A	81930	broad.mit.edu	37	11	28112980	28112980	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:28112980G>A	ENST00000263181.6	-	4	854	c.564C>T	c.(562-564)gtC>gtT	p.V188V		NM_031217.3	NP_112494.3	Q8NI77	KI18A_HUMAN	kinesin family member 18A	188	Kinesin-motor.				blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport	caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle	actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						GTCCATGAACGACCACCCCTT	0.378000													19	107					0	0	0.00278032	0	0
SNAPC4	6621	broad.mit.edu	37	9	139272788	139272788	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:139272788G>A	ENST00000298532.2	-	21	3859	c.3491C>T	c.(3490-3492)cCt>cTt	p.P1164L		NM_003086.2	NP_003077.2	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex, polypeptide 4, 190kDa	1164	Pro-rich.				snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		CGCTTCTGCAGGACTTTGGGA	0.632000													5	6					0	0	0.000602214	0	0
PCDH15	65217	broad.mit.edu	37	10	55849813	55849813	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:55849813C>T	ENST00000373965.2	-	17	2343	c.1949G>A	c.(1948-1950)cGa>cAa	p.R650Q	PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000373957.3_Missense_Mutation_p.R621Q|PCDH15_ENST00000373955.1_Missense_Mutation_p.R643Q|PCDH15_ENST00000414778.1_Missense_Mutation_p.R648Q|PCDH15_ENST00000395433.1_Missense_Mutation_p.R621Q|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.R643Q|PCDH15_ENST00000395446.1_Missense_Mutation_p.R643Q|PCDH15_ENST00000409834.1_Missense_Mutation_p.R254Q|PCDH15_ENST00000395445.1_Missense_Mutation_p.R650Q|PCDH15_ENST00000395438.1_Missense_Mutation_p.R643Q|PCDH15_ENST00000395432.2_Missense_Mutation_p.R606Q|PCDH15_ENST00000320301.6_Missense_Mutation_p.R643Q|PCDH15_ENST00000437009.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.R643Q	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	643	Cadherin 6.				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)				GTCTCCCTCTCGATCAGTTGC	0.333000										HNSCC(58;0.16)			7	28					0	0	0.000274275	0	0
MARCH6	10299	broad.mit.edu	37	5	10426588	10426588	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:10426588C>T	ENST00000274140.5	+	24	2592	c.2460C>T	c.(2458-2460)tcC>tcT	p.S820S	MARCH6_ENST00000510792.1_Silent_p.S518S|MARCH6_ENST00000449913.2_Silent_p.S772S|MARCH6_ENST00000503788.1_Silent_p.S715S	NM_005885.2	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	820					protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding	p.S820S(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						TGTTGCTTTCCCTGTGTGTAC	0.433000													26	71					0	0	0.000878237	0	0
HTT	3064	broad.mit.edu	37	4	3134593	3134593	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:3134593G>A	ENST00000355072.5	+	18	2593	c.2448G>A	c.(2446-2448)aaG>aaA	p.K816K		NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	816					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)		AAACACTGAAGGATGAGTCTT	0.388000													26	104					0	0	0.00127121	0	0
TMEM184B	25829	broad.mit.edu	37	22	38641966	38641966	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr22:38641966G>A	ENST00000361906.3	-	3	541	c.333C>T	c.(331-333)ttC>ttT	p.F111F	TMEM184B_ENST00000361684.4_Silent_p.F111F	NM_001195072.1|NM_012264.4	NP_001182001.1|NP_036396.2	Q9Y519	T184B_HUMAN	transmembrane protein 184B	111						integral to membrane				endometrium(1)|large_intestine(2)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	8	Melanoma(58;0.045)					GGACGGTGCCGAAGTACACGT	0.637000													6	29					0	0	0.00198382	0	0
SCN5A	6331	broad.mit.edu	37	3	38620973	38620973	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:38620973G>A	ENST00000413689.1	-	18	3435	c.3242C>T	c.(3241-3243)cCt>cTt	p.P1081L	SCN5A_ENST00000333535.4_Missense_Mutation_p.P1081L|SCN5A_ENST00000414099.2_Missense_Mutation_p.P1081L|SCN5A_ENST00000450102.2_Intron|SCN5A_ENST00000449557.2_Intron|SCN5A_ENST00000443581.1_Missense_Mutation_p.P1080L|SCN5A_ENST00000425664.1_Missense_Mutation_p.P1081L|SCN5A_ENST00000451551.2_Intron|SCN5A_ENST00000455624.2_Missense_Mutation_p.P1080L|SCN5A_ENST00000423572.2_Missense_Mutation_p.P1080L	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1081					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	ACCGGACACAGGCTGGGATTC	0.657000													4	12					0	0	0.000602214	0	0
SH2D3A	10045	broad.mit.edu	37	19	6754926	6754926	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:6754926G>A	ENST00000245908.6	-	5	1166	c.897C>T	c.(895-897)ccC>ccT	p.P299P	SH2D3A_ENST00000437152.3_Silent_p.P177P	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	299					JNK cascade|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						GCAGGACTTGGGGTTCCAGGG	0.597000													17	59					0	0	0.000566183	0	0
MUC7	4589	broad.mit.edu	37	4	71347045	71347045	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:71347045C>T	ENST00000413702.1	+	4	872	c.584C>T	c.(583-585)cCt>cTt	p.P195L	MUC7_ENST00000456088.1_Missense_Mutation_p.P195L|MUC7_ENST00000304887.5_Missense_Mutation_p.P195L	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	195	Thr-rich.					extracellular region	protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			CCACCCACACCTTCTGCAACT	0.592000													12	51					0	0	0.00244969	0	0
UCP1	7350	broad.mit.edu	37	4	141483440	141483440	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:141483440C>T	ENST00000262999.3	-	5	791	c.716G>A	c.(715-717)aGa>aAa	p.R239K		NM_021833.4	NP_068605.1	P25874	UCP1_HUMAN	uncoupling protein 1 (mitochondrial, proton carrier)	239					brown fat cell differentiation|cellular lipid metabolic process|respiratory electron transport chain	integral to membrane|mitochondrial inner membrane	binding			NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|stomach(1)	16	all_hematologic(180;0.162)					ATTAATAAATCTGGTTTTTAC	0.468000													10	37					0	0	0.000442599	0	0
DIO1	1733	broad.mit.edu	37	1	54360102	54360102	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:54360102C>T	ENST00000361921.3	+	1	243	c.219C>T	c.(217-219)ttC>ttT	p.F73F	DIO1_ENST00000525202.1_Intron|DIO1_ENST00000388876.3_Silent_p.F73F|DIO1_ENST00000322679.6_Silent_p.F73F|DIO1_ENST00000524406.1_5'UTR|DIO1_ENST00000534069.1_3'UTR|DIO1_ENST00000532493.1_Silent_p.F73F	NM_000792.5|NM_213593.3	NP_000783.2|NP_998758.1	P49895	IOD1_HUMAN	deiodinase, iodothyronine, type I	73					hormone biosynthetic process|thyroid hormone generation	endoplasmic reticulum membrane|integral to membrane|plasma membrane	selenium binding|thyroxine 5'-deiodinase activity			cervix(1)|endometrium(2)|large_intestine(3)|lung(2)|skin(1)	9						ATTTCTGGTTCGTCTTGAAGG	0.572000													10	41					0	0	0.00185496	0	0
PCDH18	54510	broad.mit.edu	37	4	138451229	138451229	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:138451229G>A	ENST00000344876.4	-	1	2400	c.2014C>T	c.(2014-2016)Ctg>Ttg	p.L672L	PCDH18_ENST00000412923.2_Silent_p.L672L|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_Silent_p.L452L|PCDH18_ENST00000511115.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	672	Cadherin 6.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					ATGCACTTCAGAAGGACTTTG	0.428000													19	57					0	0	0.00188189	0	0
DGKH	160851	broad.mit.edu	37	13	42774011	42774011	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr13:42774011C>T	ENST00000379274.2	+	20	2480	c.2051C>T	c.(2050-2052)tCg>tTg	p.S684L	DGKH_ENST00000540693.1_Missense_Mutation_p.S820L|DGKH_ENST00000261491.4_Missense_Mutation_p.S820L|DGKH_ENST00000538674.1_Missense_Mutation_p.S575L|DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000536612.1_Missense_Mutation_p.S684L|DGKH_ENST00000337343.4_Missense_Mutation_p.S820L			Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta	820					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		TTACAGAGATCGTACAAGAAT	0.333000													10	31					0	0	0.000673444	0	0
AKR1C2	1646	broad.mit.edu	37	10	5043870	5043870	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:5043870G>A	ENST00000380753.4	-	2	275	c.88C>T	c.(88-90)Cct>Tct	p.P30S	AKR1C2_ENST00000407674.1_Missense_Mutation_p.P30S|AKR1C2_ENST00000455190.1_Missense_Mutation_p.P30S|AKR1C2_ENST00000421196.3_Missense_Mutation_p.P30S	NM_205845.2	NP_995317.1	P52895	AK1C2_HUMAN	aldo-keto reductase family 1, member C2	30					digestion|prostaglandin metabolic process|steroid metabolic process	cytoplasm	androsterone dehydrogenase (A-specific) activity|bile acid binding|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity			breast(1)|large_intestine(5)|lung(3)|skin(1)	10					NADH(DB00157)|Ursodeoxycholic acid(DB01586)	TTACTTTTAGGAACCTGGGGG	0.443000													12	44					0	0	0.00244969	0	0
ATP13A4	84239	broad.mit.edu	37	3	193201782	193201782	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:193201782G>A	ENST00000342695.4	-	8	1073	c.751C>T	c.(751-753)Ctc>Ttc	p.L251F	ATP13A4_ENST00000295548.3_Missense_Mutation_p.L251F|ATP13A4_ENST00000392443.3_Missense_Mutation_p.L251F	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	251					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		AGATGGTGGAGTTTTACAGAT	0.343000													29	127					0	0	0.0024448	0	0
ARRB2	409	broad.mit.edu	37	17	4623752	4623752	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:4623752C>T	ENST00000269260.2	+	13	1299	c.1066C>T	c.(1066-1068)Ccc>Tcc	p.P356S	ARRB2_ENST00000574954.1_Missense_Mutation_p.P164S|ARRB2_ENST00000571206.1_Missense_Mutation_p.P164S|ARRB2_ENST00000412477.3_Missense_Mutation_p.P377S|ARRB2_ENST00000575877.1_Missense_Mutation_p.P312L|ARRB2_ENST00000381488.6_Missense_Mutation_p.P341S|ARRB2_ENST00000572457.1_Missense_Mutation_p.P164S|ARRB2_ENST00000346341.2_Missense_Mutation_p.P341S	NM_001257328.1|NM_001257330.1|NM_004313.3	NP_001244257.1|NP_001244259.1|NP_004304.1	P32121	ARRB2_HUMAN	arrestin, beta 2	356	Interaction with TRAF6.				cell chemotaxis|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|G-protein coupled receptor internalization|negative regulation of natural killer cell mediated cytotoxicity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway	coated pit|cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	angiotensin receptor binding|ubiquitin protein ligase binding			large_intestine(1)|liver(2)|lung(3)|prostate(1)	7						CATCCCCCTCCCCAGACCCCA	0.627000													13	48					0	0	0.00316338	0	0
TINAG	27283	broad.mit.edu	37	6	54185388	54185388	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:54185388G>A	ENST00000259782.4	+	2	463	c.367G>A	c.(367-369)Gat>Aat	p.D123N	TINAG_ENST00000486436.1_3'UTR|TINAG_ENST00000370864.3_Missense_Mutation_p.D105N|TINAG_ENST00000370869.3_Missense_Mutation_p.D119N	NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	123					cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			TTGCTTCAAAGATGGTCAACA	0.313000													16	117					0	0	0.00152264	0	0
CFAP54	144535	broad.mit.edu	37	12	97137619	97137619	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:97137619G>A	ENST00000524981.3	+	21	2841	c.2841G>A	c.(2839-2841)aaG>aaA	p.K947K				Q6ZTY8	CL063_HUMAN		921										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						AGAAATTCAAGGAATCTCCCT	0.398000													10	29					0	0	0.000442599	0	0
SEC14L1	6397	broad.mit.edu	37	17	75196570	75196570	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:75196570C>T	ENST00000413679.2	+	9	1127	c.824C>T	c.(823-825)cCa>cTa	p.P275L	SEC14L1_ENST00000430767.4_Missense_Mutation_p.P275L|SEC14L1_ENST00000591437.1_Missense_Mutation_p.P241L|SEC14L1_ENST00000436233.4_Missense_Mutation_p.P275L|SEC14L1_ENST00000585618.1_Missense_Mutation_p.P275L|SEC14L1_ENST00000443798.4_Missense_Mutation_p.P275L|SEC14L1_ENST00000392476.2_Missense_Mutation_p.P275L|SEC14L1_ENST00000431431.2_Missense_Mutation_p.P241L	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470.1|NP_001137471.1|NP_002994.3	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	275					transport	Golgi apparatus|integral to membrane	binding			NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						TAATAGATTCCAAAAGATGAG	0.433000													11	118					0	0	0.00185496	0	0
MAMDC2	256691	broad.mit.edu	37	9	72840934	72840934	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:72840934G>A	ENST00000377182.4	+	14	2664	c.2047G>A	c.(2047-2049)Gaa>Aaa	p.E683K	SMC5-AS1_ENST00000594708.1_RNA	NM_153267.4	NP_694999.3	Q7Z304	MAMC2_HUMAN	MAM domain containing 2	683						endoplasmic reticulum|membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						GGACTTAAATGAAATTGAGTA	0.299000													30	27					0	0	0.00375469	0	0
C10orf113	387638	broad.mit.edu	37	10	21435296	21435296	+	Missense_Mutation	SNP	C	C	T	rs139819724		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:21435296C>T	ENST00000529198.1	-	1	192	c.142G>A	c.(142-144)Gaa>Aaa	p.E48K	C10orf113_ENST00000534331.1_Missense_Mutation_p.E48K|NEBL_ENST00000417816.2_Intron|C10orf113_ENST00000377118.4_Missense_Mutation_p.E38K	NM_001177483.1	NP_001170954.1	Q5VZT2	CJ113_HUMAN	chromosome 10 open reading frame 113	48										endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|pancreas(1)	7						ATGTACATTTCAGCCACACAA	0.433000													11	54					0	0	0.00316338	0	0
NAB1	4664	broad.mit.edu	37	2	191524650	191524650	+	Missense_Mutation	SNP	C	C	T	rs1053176		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:191524650C>T	ENST00000337386.5	+	4	1209	c.748C>T	c.(748-750)Cgg>Tgg	p.R250W	NAB1_ENST00000484774.1_3'UTR|NAB1_ENST00000545490.1_Missense_Mutation_p.R20W|NAB1_ENST00000409581.1_Missense_Mutation_p.R250W|NAB1_ENST00000409641.1_Missense_Mutation_p.R250W|NAB1_ENST00000357215.5_Missense_Mutation_p.R250W	NM_005966.3	NP_005957.2	Q13506	NAB1_HUMAN	NGFI-A binding protein 1 (EGR1 binding protein 1)	250	NCD2.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0405)|all cancers(119;0.109)			GGAGGAAATTCGGAAATACAG	0.418000													13	47					0	0	0.00316338	0	0
RRP36	88745	broad.mit.edu	37	6	42992834	42992834	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:42992834C>T	ENST00000244496.5	+	2	252	c.242C>T	c.(241-243)cCa>cTa	p.P81L		NM_033112.2	NP_149103.1	Q96EU6	RRP36_HUMAN	ribosomal RNA processing 36 homolog (S. cerevisiae)	81					ribosomal small subunit biogenesis|rRNA processing	nucleolus				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1)	11						GCTTCTAGACCACCTATCCAA	0.438000													18	40					0	0	0.00395357	0	0
DCC	1630	broad.mit.edu	37	18	50278642	50278642	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:50278642C>T	ENST00000442544.2	+	2	926	c.310C>T	c.(310-312)Cat>Tat	p.H104Y	DCC_ENST00000412726.1_5'UTR	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	104	Ig-like C2-type 1.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		AAACATACTTCATTCCAGACA	0.438000													17	75					0	0	0.00074312	0	0
NDNF	79625	broad.mit.edu	37	4	121966853	121966853	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:121966853G>A	ENST00000379692.4	-	2	666	c.140C>T	c.(139-141)cCa>cTa	p.P47L		NM_024574.3	NP_078850.3	Q8TB73	CD031_HUMAN	neuron-derived neurotrophic factor	47										breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						AGCTCCATCTGGAATTACTGA	0.433000													6	28					0	0	0.00198382	0	0
LVRN	206338	broad.mit.edu	37	5	115336309	115336309	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:115336309C>T	ENST00000357872.4	+	9	1725	c.1601C>T	c.(1600-1602)tCc>tTc	p.S534F	AQPEP_ENST00000395528.2_Missense_Mutation_p.S51F	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		534					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding										AAGACATTTTCCTACTCAAAC	0.343000													13	62					0	0	0.00244969	0	0
KLHL13	90293	broad.mit.edu	37	X	117033109	117033109	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:117033109T>C	ENST00000371876.1	-	6	3998	c.1577A>G	c.(1576-1578)cAg>cGg	p.Q526R	KLHL13_ENST00000371878.1_Missense_Mutation_p.Q526R|KLHL13_ENST00000539496.1_Missense_Mutation_p.Q580R|KLHL13_ENST00000371882.1_Missense_Mutation_p.Q526R|KLHL13_ENST00000545703.1_Missense_Mutation_p.Q535R|KLHL13_ENST00000469946.1_Missense_Mutation_p.Q526R|KLHL13_ENST00000262820.3_Missense_Mutation_p.Q577R|KLHL13_ENST00000540167.1_Missense_Mutation_p.Q561R|KLHL13_ENST00000541812.1_Missense_Mutation_p.Q561R			Q9P2N7	KLH13_HUMAN	kelch-like family member 13	577					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						AACATCACTCTGCCCTCTTAA	0.423000													13	31					0	0	0.00185496	0	0
OR14C36	127066	broad.mit.edu	37	1	248512880	248512880	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:248512880G>A	ENST00000317861.1	+	1	804	c.804G>A	c.(802-804)caG>caA	p.Q268Q		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	268					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						CAGCCACCCAGGATCTGATCC	0.458000													19	48					0	0	0.00121646	0	0
OR2B2	81697	broad.mit.edu	37	6	27879370	27879370	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:27879370G>A	ENST00000303324.2	-	1	804	c.728C>T	c.(727-729)tCc>tTc	p.S243F		NM_033057.2	NP_149046.2	Q9GZK3	OR2B2_HUMAN	olfactory receptor, family 2, subfamily B, member 2	243					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						AATTAGATGGGAGCCACATGT	0.468000													12	67					0	0	0.00136819	0	0
MCAM	4162	broad.mit.edu	37	11	119185254	119185254	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:119185254G>A	ENST00000264036.4	-	5	518	c.504C>T	c.(502-504)ccC>ccT	p.P168P		NM_006500.2	NP_006491.2	P43121	MUC18_HUMAN	melanoma cell adhesion molecule	168	Ig-like V-type 2.				anatomical structure morphogenesis|cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1)	22		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		CTTGAGGAATGGGGTACCCGT	0.597000													10	37					0	0	0.000978159	0	0
MYH15	22989	broad.mit.edu	37	3	108175660	108175660	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:108175660G>A	ENST00000273353.3	-	20	2207	c.2151C>T	c.(2149-2151)tgC>tgT	p.C717C	MYH15_ENST00000495753.2_5'UTR	NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	717	Myosin head-like.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						AACCTTCACGGCATATCCTAG	0.433000													7	41					0	0	0.000274275	0	0
OR2G6	391211	broad.mit.edu	37	1	248685082	248685082	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:248685082C>T	ENST00000343414.4	+	1	167	c.135C>T	c.(133-135)ctC>ctT	p.L45L		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	45					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ACACTGCCCTCATACTAGTAT	0.478000													9	45					0	0	0.000274275	0	0
KCNA10	3744	broad.mit.edu	37	1	111060333	111060333	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:111060333C>T	ENST00000369771.2	-	1	1464	c.1077G>A	c.(1075-1077)aaG>aaA	p.K359K		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	359						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		TCTGCAGCCCCTTGGAGTGGC	0.572000													9	38					0	0	0.00136819	0	0
ANO3	63982	broad.mit.edu	37	11	26646015	26646015	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:26646015G>A	ENST00000256737.3	+	18	2695	c.1843G>A	c.(1843-1845)Gaa>Aaa	p.E615K	ANO3_ENST00000525139.1_Missense_Mutation_p.E599K|ANO3_ENST00000537978.1_Missense_Mutation_p.E599K|ANO3_ENST00000531568.1_Missense_Mutation_p.E469K	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	615						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						ACAGGCTTATGAAAAAATTGC	0.318000													13	77					0	0	0.00316338	0	0
MYH11	4629	broad.mit.edu	37	16	15851813	15851813	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:15851813C>T	ENST00000338282.6	-	13	1552	c.1446G>A	c.(1444-1446)aaG>aaA	p.K482K	MYH11_ENST00000300036.5_Silent_p.K482K|MYH11_ENST00000452625.2_Silent_p.K489K|MYH11_ENST00000396324.3_Silent_p.K489K|MYH11_ENST00000576790.1_Silent_p.K482K	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	482	Myosin head-like.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GCTGCTGCAGCTTCTCGTTGG	0.562000			T	CBFB	AML								9	49					0	0	0.000978159	0	0
GLB1L	79411	broad.mit.edu	37	2	220103910	220103910	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:220103910G>A	ENST00000295759.7	-	11	1279	c.966C>T	c.(964-966)ttC>ttT	p.F322F	GLB1L_ENST00000392089.2_Silent_p.F322F|GLB1L_ENST00000409640.1_Silent_p.F232F|GLB1L_ENST00000497855.1_5'UTR|GLB1L_ENST00000356283.3_Silent_p.F232F			Q6UWU2	GLB1L_HUMAN	galactosidase, beta 1-like	322					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TAATCGGAAGGAAGCGTCCCT	0.438000													14	63					0	0	0.00074312	0	0
CTNND2	1501	broad.mit.edu	37	5	11111000	11111000	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:11111000C>T	ENST00000304623.8	-	14	2622	c.2433G>A	c.(2431-2433)aaG>aaA	p.K811K	CTNND2_ENST00000511377.1_Silent_p.K720K|CTNND2_ENST00000359640.2_Silent_p.K811K|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000458100.2_Silent_p.K378K|CTNND2_ENST00000503622.1_Silent_p.K474K	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	811	Poly-Lys.				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TCTTCTTCTTCTTGCCCCAGC	0.512000													38	197					0	0	0.00170553	0	0
ASAP3	55616	broad.mit.edu	37	1	23758348	23758348	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:23758348G>A	ENST00000336689.3	-	23	2431	c.2387C>T	c.(2386-2388)cCa>cTa	p.P796L	ASAP3_ENST00000495646.1_Missense_Mutation_p.P300L|ASAP3_ENST00000484906.1_Intron|ASAP3_ENST00000437606.2_Missense_Mutation_p.P787L	NM_017707.3	NP_060177.2	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 3	796					regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						GGAGGAGGCTGGACTGCCCAG	0.582000													16	50					0	0	0.00152264	0	0
ITIH2	3698	broad.mit.edu	37	10	7774395	7774395	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:7774395G>A	ENST00000358415.4	+	14	1908	c.1742G>A	c.(1741-1743)aGg>aAg	p.R581K	ITIH2_ENST00000379587.4_Missense_Mutation_p.R570K	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	581					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						GATTTCACCAGGAAACTGTGG	0.488000													4	30					0	0	0.000602214	0	0
FASTKD2	22868	broad.mit.edu	37	2	207636626	207636626	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:207636626C>T	ENST00000236980.6	+	5	1347	c.999C>T	c.(997-999)gcC>gcT	p.A333A	FASTKD2_ENST00000403094.3_Silent_p.A333A|FASTKD2_ENST00000402774.3_Silent_p.A333A	NM_014929.3	NP_055744.2	Q9NYY8	FAKD2_HUMAN	FAST kinase domains 2	333					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(2)	21				LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138)		AGATGAAAGCCTTGAGGGAAT	0.323000													15	67					0	0	0.00316338	0	0
NFATC2	4773	broad.mit.edu	37	20	50140414	50140414	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:50140414G>A	ENST00000371564.3	-	2	585	c.366C>T	c.(364-366)atC>atT	p.I122I	NFATC2_ENST00000414705.1_Silent_p.I102I|NFATC2_ENST00000396009.3_Silent_p.I122I	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	122	Trans-activation domain A (TAD-A).				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					CCACTGCCTGGATCAGTTCGT	0.711000													8	21					0	0	0.000274275	0	0
GPR116	221395	broad.mit.edu	37	6	46851844	46851844	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:46851844G>A	ENST00000283296.7	-	5	781	c.493C>T	c.(493-495)Ctg>Ttg	p.L165L	GPR116_ENST00000456426.2_Silent_p.L165L|GPR116_ENST00000362015.4_Silent_p.L165L|GPR116_ENST00000265417.7_Silent_p.L165L	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	165	SEA.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			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)			TCCTGAAGCAGGCAAAAAGGT	0.483000													12	83					0	0	0.00316338	0	0
RYR2	6262	broad.mit.edu	37	1	237982470	237982470	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:237982470C>T	ENST00000366574.2	+	101	14885	c.14568C>T	c.(14566-14568)gtC>gtT	p.V4856V	RYR2_ENST00000542537.1_Silent_p.V4840V|RYR2_ENST00000360064.6_Silent_p.V4862V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4856					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTGTTATTGTCATTCTCTTGG	0.408000													17	115					0	0	0.00074312	0	0
CYP2C19	1557	broad.mit.edu	37	10	96602762	96602762	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:96602762G>A	ENST00000371321.3	+	7	1212	c.1130G>A	c.(1129-1131)aGa>aAa	p.R377K	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760.1	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	377					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	GTTAAATTCAGAAACTACCTC	0.468000													11	37					0	0	0.00244969	0	0
LRRC59	55379	broad.mit.edu	37	17	48462559	48462559	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:48462559C>A	ENST00000225972.7	-	6	831	c.596G>T	c.(595-597)cGg>cTg	p.R199L		NM_018509.3	NP_060979.2	Q96AG4	LRC59_HUMAN	leucine rich repeat containing 59	199						endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial nucleoid	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;2.43e-08)			CTCCTTTCTCCGGCGCTCCTT	0.552000													7	107					0.00307968	0.00887212	0.00307968	1	0
C10orf120	399814	broad.mit.edu	37	10	124458929	124458929	+	Splice_Site	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:124458929C>T	ENST00000329446.4	-	2	208		c.e2-1			NM_001010912.1	NP_001010912.1	Q5SQS8	CJ120_HUMAN	chromosome 10 open reading frame 120											endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				GCTCCATATCCTGCAAGAAGA	0.463000													6	20					0	0	0.00198382	0	0
DNAH11	8701	broad.mit.edu	37	7	21857954	21857954	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:21857954G>A	ENST00000328843.6	+	66	10740	c.10709G>A	c.(10708-10710)gGa>gAa	p.G3570E	DNAH11_ENST00000409508.3_Missense_Mutation_p.G3563E			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3570	AAA 5 (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						ATTAAAAAAGGAAAGTAAGTA	0.353000									Kartagener syndrome				9	70					0	0	0.000978159	0	0
BANK1	55024	broad.mit.edu	37	4	102946525	102946525	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:102946525G>A	ENST00000504592.1	+	13	1826	c.1408G>A	c.(1408-1410)Gat>Aat	p.D470N	BANK1_ENST00000444316.2_Missense_Mutation_p.D455N|BANK1_ENST00000428908.1_Missense_Mutation_p.D352N|BANK1_ENST00000322953.4_Missense_Mutation_p.D485N|BANK1_ENST00000510950.1_3'UTR|BANK1_ENST00000508653.1_Missense_Mutation_p.D352N|RP11-498M5.2_ENST00000505091.1_RNA			Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	485					B cell activation					NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		AGACCAGTATGATGACTTGTA	0.502000													11	14					0	0	0.00136819	0	0
APOBEC1	339	broad.mit.edu	37	12	7805350	7805350	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:7805350G>A	ENST00000229304.4	-	3	146	c.126C>T	c.(124-126)atC>atT	p.I42I		NM_001644.3	NP_001635.2	P41238	ABEC1_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1	42					cytidine to uridine editing|DNA demethylation|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing	nucleoplasm	cytidine deaminase activity|RNA binding|zinc ion binding			kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						TGCCCCACTTGATTTCGTAGA	0.438000													14	26					0	0	0.00316338	0	0
CDH13	1012	broad.mit.edu	37	16	83711861	83711861	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:83711861G>A	ENST00000566620.1	+	10	1623	c.1333G>A	c.(1333-1335)Gaa>Aaa	p.E445K	CDH13_ENST00000428848.3_Missense_Mutation_p.E406K|CDH13_ENST00000268613.10_Missense_Mutation_p.E492K	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	445	Cadherin 3.				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		GATCAAAGTGGAAAATGAAGA	0.547000													5	14					0	0	0.00198382	0	0
MYRIP	25924	broad.mit.edu	37	3	40204221	40204221	+	Splice_Site	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:40204221G>A	ENST00000302541.6	+	5	812	c.469_splice	c.e5-1	p.G157_splice	MYRIP_ENST00000444716.1_Splice_Site_p.G157_splice|MYRIP_ENST00000396217.3_Splice_Site_p.G68_splice|MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000539167.1_5'UTR|MYRIP_ENST00000425621.1_Splice_Site_p.G157_splice	NM_015460.2	NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	157	Myosin-binding.				intracellular protein transport		actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		ACCCTGCCAGGAGGAAGCCTT	0.433000													26	71					0	0	0.00283554	0	0
CX3CR1	1524	broad.mit.edu	37	3	39307287	39307287	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:39307287G>A	ENST00000541347.1	-	2	953	c.714C>T	c.(712-714)atC>atT	p.I238I	CX3CR1_ENST00000542107.1_Silent_p.I238I|CX3CR1_ENST00000399220.2_Silent_p.I238I|CX3CR1_ENST00000358309.3_Silent_p.I270I	NM_001171171.1	NP_001164642.1	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	238					cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity	p.I238I(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		GGAAAAACACGATGACCACCA	0.428000													21	47					0	0	0.00229938	0	0
COLQ	8292	broad.mit.edu	37	3	15531048	15531048	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:15531048C>T	ENST00000383785.2	-	2	328	c.203G>A	c.(202-204)aGa>aAa	p.R68K	COLQ_ENST00000435459.2_Missense_Mutation_p.R58K|COLQ_ENST00000383786.5_Missense_Mutation_p.R68K|COLQ_ENST00000383787.2_Missense_Mutation_p.R68K|COLQ_ENST00000383788.5_Missense_Mutation_p.R68K|COLQ_ENST00000603808.1_Missense_Mutation_p.R68K|COLQ_ENST00000383781.4_Missense_Mutation_p.R58K			Q9Y215	COLQ_HUMAN	collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase	68					acetylcholine catabolic process in synaptic cleft|asymmetric protein localization	basal lamina|cell junction|collagen|extracellular space|synaptic cleft				endometrium(2)|large_intestine(4)|lung(10)|skin(3)	19						TCGGCCACCTCTGAAGAATGG	0.582000													5	36					0	0	0.000602214	0	0
CNTNAP2	26047	broad.mit.edu	37	7	148080974	148080974	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:148080974G>A	ENST00000361727.3	+	22	4225	c.3709G>A	c.(3709-3711)Gat>Aat	p.D1237N	CNTNAP2_ENST00000538075.1_Missense_Mutation_p.D296N|CNTNAP2_ENST00000463592.2_3'UTR	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	1237					behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GGATCACCTGGATTCAGGTAA	0.557000										HNSCC(39;0.1)			20	9					0	0	0.00278032	0	0
ZNF280C	55609	broad.mit.edu	37	X	129377577	129377577	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:129377577G>A	ENST00000370978.4	-	5	494	c.341C>T	c.(340-342)tCt>tTt	p.S114F		NM_017666.4	NP_060136.1	Q8ND82	Z280C_HUMAN	zinc finger protein 280C	114	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						GCTTTGTGAAGATTTAGATAC	0.393000													17	58					0	0	0.000566183	0	0
PCDHGA12	26025	broad.mit.edu	37	5	140885026	140885026	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:140885026C>T	ENST00000252085.3	+	3	2692	c.2550C>T	c.(2548-2550)gcC>gcT	p.A850A	PCDHGA6_ENST00000517434.1_Silent_p.A850A|PCDHGA2_ENST00000394576.2_Silent_p.A850A|PCDHGB6_ENST00000520790.1_Silent_p.A848A|PCDHGA9_ENST00000573521.1_Silent_p.A850A|PCDHGA3_ENST00000253812.6_Silent_p.A850A|PCDHGC5_ENST00000252087.1_Silent_p.A862A|PCDHGA11_ENST00000518882.1_Silent_p.A668A|PCDHGA11_ENST00000398587.2_Silent_p.A853A|PCDHGB1_ENST00000523390.1_Silent_p.A845A|PCDHGC3_ENST00000308177.3_Silent_p.A852A|PCDHGA10_ENST00000398610.2_Silent_p.A854A|PCDHGC4_ENST00000306593.1_Silent_p.A856A|PCDHGB3_ENST00000576222.1_Silent_p.A847A|PCDHGB7_ENST00000398594.2_Silent_p.A847A|PCDHGA4_ENST00000571252.1_Silent_p.A849A|PCDHGA7_ENST00000518325.1_Silent_p.A850A|PCDHGB2_ENST00000522605.1_Silent_p.A849A|PCDHGA5_ENST00000518069.1_Silent_p.A849A|PCDHGB4_ENST00000519479.1_Silent_p.A841A|PCDHGA8_ENST00000398604.2_Silent_p.A850A|PCDHGA1_ENST00000517417.1_Silent_p.A849A	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1														breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCTGCAAGCCATGATCTTGG	0.577000													12	58					0	0	0.00244969	0	0
BNC2	54796	broad.mit.edu	37	9	16552729	16552729	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:16552729G>A	ENST00000380672.4	-	5	525	c.468C>T	c.(466-468)caC>caT	p.H156H	BNC2_ENST00000545497.1_Silent_p.H61H|BNC2_ENST00000380666.2_Silent_p.H156H|BNC2_ENST00000380667.2_Silent_p.H89H	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN	basonuclin 2	156					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		CTTGGGTGGGGTGGTACAGGT	0.542000													5	30					0	0	0.00116845	0	0
GRB14	2888	broad.mit.edu	37	2	165381533	165381533	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:165381533G>A	ENST00000263915.3	-	5	1197	c.659C>T	c.(658-660)tCc>tTc	p.S220F	GRB14_ENST00000543549.1_Missense_Mutation_p.S133F	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	220					blood coagulation|leukocyte migration	cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane	SH3/SH2 adaptor activity			breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						CTGTGTGGGGGATATTTCACC	0.289000													11	60					0	0	0.000978159	0	0
CRB1	23418	broad.mit.edu	37	1	197396624	197396624	+	Silent	SNP	T	T	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:197396624T>G	ENST00000367397.1	+	3	1170	c.312T>G	c.(310-312)ggT>ggG	p.G104G	CRB1_ENST00000367399.2_Silent_p.G611G|CRB1_ENST00000535699.1_Silent_p.G654G|CRB1_ENST00000544212.1_Silent_p.G204G|CRB1_ENST00000543483.1_3'UTR|CRB1_ENST00000367400.3_Silent_p.G723G|CRB1_ENST00000538660.1_Intron			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	723	EGF-like 2.				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						ACTCCACTGGTTATGTCATCT	0.428000													6	54					0	0	0.00116845	0	0
CMTR1	23070	broad.mit.edu	37	6	37414221	37414221	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:37414221C>T	ENST00000373451.4	+	4	604	c.440C>T	c.(439-441)cCa>cTa	p.P147L		NM_015050.2	NP_055865.1	Q8N1G2	MTR1_HUMAN		147					mRNA capping	cytoplasm|nucleus	mRNA (nucleoside-2'-O-)-methyltransferase activity|nucleic acid binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(6)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(2)	31						CGAGATGAGCCAGAGGTAAGT	0.493000													37	144					0	0	0.00111076	0	0
CACNA1E	777	broad.mit.edu	37	1	181705548	181705548	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:181705548T>C	ENST00000526775.1	+	21	3508	c.3343T>C	c.(3343-3345)Ttc>Ctc	p.F1115L	CACNA1E_ENST00000367573.2_Missense_Mutation_p.F1134L|CACNA1E_ENST00000367570.1_Missense_Mutation_p.F1134L|CACNA1E_ENST00000367567.4_Missense_Mutation_p.F741L|CACNA1E_ENST00000357570.5_Missense_Mutation_p.F1085L|CACNA1E_ENST00000360108.3_Missense_Mutation_p.F1115L|CACNA1E_ENST00000358338.5_Missense_Mutation_p.F1066L	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1134					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CAGCTCAATGTTCATCTTCAG	0.572000													4	8					0	0	0.00116845	0	0
FAS	355	broad.mit.edu	37	10	90774052	90774052	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:90774052C>T	ENST00000355740.2	+	9	1073	c.853C>T	c.(853-855)Cat>Tat	p.H285Y	FAS_ENST00000352159.4_3'UTR|FAS_ENST00000357339.2_Missense_Mutation_p.H264Y|FAS_ENST00000355279.2_3'UTR	NM_000043.4|NM_152871.2|NM_152872.2	NP_000034.1|NP_690610.1|NP_690611.1	P25445	TNR6_HUMAN	Fas cell surface death receptor	285	Death.|Interaction with HIPK3 (By similarity).				activation of caspase activity|activation of pro-apoptotic gene products|anti-apoptosis|cellular response to mechanical stimulus|positive regulation of necrotic cell death	cytosol|extracellular region|integral to membrane|soluble fraction	identical protein binding|kinase binding			breast(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0161)		Colorectal(12;0.000136)|COAD - Colon adenocarcinoma(12;0.000193)		GCATCAACTTCATGGAAAGAA	0.373000													24	74					0	0	0.00229938	0	0
ZAN	7455	broad.mit.edu	37	7	100349969	100349969	+	RNA	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:100349969C>T	ENST00000542585.1	+	0	2389				ZAN_ENST00000427578.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			AACCCACCATCCCCACAGAAA	0.517000													25	14					0	0	0.00127121	0	0
DMBT1	1755	broad.mit.edu	37	10	124351962	124351962	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:124351962G>A	ENST00000338354.3	+	20	2457	c.2351G>A	c.(2350-2352)gGa>gAa	p.G784E	DMBT1_ENST00000368956.2_Intron|DMBT1_ENST00000368955.3_Missense_Mutation_p.G774E|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000330163.4_Intron|DMBT1_ENST00000344338.3_Missense_Mutation_p.G774E|DMBT1_ENST00000368909.3_Missense_Mutation_p.G784E			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	784	SRCR 6.				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			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)				TCGGCCCCAGGAAATGCCCGG	0.627000													26	21					0	0	0.00106085	0	0
MUC16	94025	broad.mit.edu	37	19	9011397	9011397	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:9011397C>T	ENST00000397910.4	-	36	39039	c.38836G>A	c.(38836-38838)Gag>Aag	p.E12946K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12948	SEA 6.				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						TGGCTCAGCTCCCAGTACAGC	0.562000													7	58					0	0	0.000274275	0	0
SCNN1G	6340	broad.mit.edu	37	16	23208639	23208639	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:23208639C>T	ENST00000300061.2	+	6	1111	c.968C>T	c.(967-969)tCc>tTc	p.S323F	CTC-391G2.1_ENST00000563471.1_RNA	NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	323					excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	TTCCTCGTGTCCTCCACTGGA	0.478000													14	14					0	0	0.00185496	0	0
COL21A1	81578	broad.mit.edu	37	6	56035891	56035891	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:56035891G>A	ENST00000244728.5	-	4	1073	c.676C>T	c.(676-678)Cgt>Tgt	p.R226C	COL21A1_ENST00000535941.1_Missense_Mutation_p.R226C|COL21A1_ENST00000370819.1_Missense_Mutation_p.R226C	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	226					cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			CTTTCATCACGAGCTGCCACT	0.308000													47	116					0	0	0.00361006	0	0
CNTN5	53942	broad.mit.edu	37	11	100211308	100211308	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:100211308C>T	ENST00000524871.1	+	22	3134	c.2844C>T	c.(2842-2844)ttC>ttT	p.F948F	CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000528682.1_Silent_p.F948F|CNTN5_ENST00000279463.3_Silent_p.F948F|CNTN5_ENST00000418526.2_Silent_p.F874F	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	948	Fibronectin type-III 3.				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)		TATATCACTTCACAGTGAGGG	0.438000													7	14					0	0	0.00307968	0	0
XIST	7503	broad.mit.edu	37	X	73053139	73053139	+	RNA	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:73053139G>A	ENST00000429829.1	-	0	11506					NR_001564.2																						ATTCTCAAAGGGAAAGATATG	0.433000													18	28					0	0	0.00074312	0	0
GON4L	54856	broad.mit.edu	37	1	155823120	155823120	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:155823120G>A	ENST00000437809.1	-	2	574	c.452C>T	c.(451-453)aCc>aTc	p.T151I	GON4L_ENST00000368331.1_Missense_Mutation_p.T151I|GON4L_ENST00000271883.5_Missense_Mutation_p.T151I|GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000361040.5_Missense_Mutation_p.T151I			Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	151					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					CTCCTTTAGGGTAAGATGATC	0.438000													31	122					0	0	0.00283554	0	0
FLT4	2324	broad.mit.edu	37	5	180040032	180040032	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:180040032G>A	ENST00000261937.6	-	25	3488	c.3410C>T	c.(3409-3411)cCg>cTg	p.P1137L	FLT4_ENST00000393347.3_Missense_Mutation_p.P1137L|FLT4_ENST00000502649.1_Missense_Mutation_p.P1137L	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	1137	Protein kinase.		P -> S (in juvenile hemangioma).		positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	GGCCAGCTCCGGGGCCCTCAT	0.657000													10	44					0	0	0.000978159	0	0
MFSD9	84804	broad.mit.edu	37	2	103340300	103340300	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:103340300G>A	ENST00000258436.5	-	5	539	c.496C>T	c.(496-498)Ccg>Tcg	p.P166S		NM_032718.3	NP_116107.3	Q8NBP5	MFSD9_HUMAN	major facilitator superfamily domain containing 9	166					transmembrane transport	integral to membrane|plasma membrane	transporter activity			breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						ATTACAAGCGGCCGTTCCTTC	0.493000													13	47					0	0	0.00152264	0	0
MYH2	4620	broad.mit.edu	37	17	10432765	10432765	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:10432765G>A	ENST00000245503.5	-	25	3535	c.3151C>T	c.(3151-3153)Cgc>Tgc	p.R1051C	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.R1051C|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000399342.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1051					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.R1051C(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						AGGTCCATGCGAAGTTTCTTT	0.383000													26	52					0	0	0.00106085	0	0
ADAM19	8728	broad.mit.edu	37	5	156921749	156921749	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:156921749G>A	ENST00000257527.4	-	15	1727	c.1649C>T	c.(1648-1650)aCc>aTc	p.T550I	ADAM19_ENST00000517905.1_Missense_Mutation_p.T550I|ADAM19_ENST00000430702.2_Missense_Mutation_p.T283I|ADAM19_ENST00000394020.1_Missense_Mutation_p.T552I	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	550	Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTTTCCAAAGGTGTCTCCTGC	0.512000													12	63					0	0	0.00244969	0	0
TTN	7273	broad.mit.edu	37	2	179616237	179616237	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:179616237C>T	ENST00000360870.5	-	46	11112	c.10890G>A	c.(10888-10890)agG>agA	p.R3630R	TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000359218.5_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	9479	Ig-like 22.						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)			CAACCTTTATCCTATCTTCTC	0.363000													21	45					0	0	0.00332997	0	0
GJA8	2703	broad.mit.edu	37	1	147381187	147381187	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:147381187G>A	ENST00000240986.4	+	2	1158	c.1105G>A	c.(1105-1107)Ggg>Agg	p.G369R	GJA8_ENST00000369235.1_Missense_Mutation_p.G369R	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	369					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					CGTGCCAGAGGGGGAGAAAGT	0.612000													4	5					0	0	0.00024832	0	0
DDX43	55510	broad.mit.edu	37	6	74123754	74123754	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:74123754G>A	ENST00000370336.4	+	13	1716	c.1558G>A	c.(1558-1560)Gat>Aat	p.D520N	MB21D1_ENST00000370318.1_Intron	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43	520	Helicase C-terminal.					intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						TCTGCATGGAGATAGAGAACA	0.348000													13	17					0	0	0.00316338	0	0
TTN	7273	broad.mit.edu	37	2	179542556	179542556	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:179542556C>T	ENST00000589042.1	-	146	34307	c.34083G>A	c.(34081-34083)gaG>gaA	p.E11361E	TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Silent_p.E10117E|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Silent_p.E11044E|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589830.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11044	Glu-rich.|Pro-rich.						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)			GTAGAACTTCCTCTTCAGGAA	0.428000													9	51					0	0	0.000673444	0	0
OR2C3	81472	broad.mit.edu	37	1	247695139	247695139	+	Silent	SNP	G	G	A	rs149975458		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:247695139G>A	ENST00000366487.3	-	2	1036	c.675C>T	c.(673-675)gcC>gcT	p.A225A	GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000366490.3_Intron	NM_198074.4	NP_932340.3	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	225					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-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)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			TCTTCAACACGGCCCGGGCAA	0.537000													8	23					0	0	0.000442599	0	0
ACTRT2	140625	broad.mit.edu	37	1	2939269	2939269	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:2939269C>T	ENST00000378404.2	+	1	1224	c.1019C>T	c.(1018-1020)tCc>tTc	p.S340F		NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN	actin-related protein T2	340						cytoplasm|cytoskeleton				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		CGGTGGTTCTCCACCTGGATT	0.612000													17	42					0	0	0.000566183	0	0
ACLY	47	broad.mit.edu	37	17	40070107	40070107	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:40070107G>A	ENST00000352035.2	-	2	150	c.20C>T	c.(19-21)tCa>tTa	p.S7L	ACLY_ENST00000393896.2_Missense_Mutation_p.S7L|ACLY_ENST00000353196.1_Missense_Mutation_p.S7L|ACLY_ENST00000537919.1_Missense_Mutation_p.S7L|ACLY_ENST00000590151.1_Missense_Mutation_p.S7L	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	7					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				CGTCTGCTCTGAAATTGCCTT	0.547000													41	93					0	0	0.00285205	0	0
FIP1L1	81608	broad.mit.edu	37	4	54257599	54257599	+	Silent	SNP	C	C	A	rs140292188		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:54257599C>A	ENST00000507166.1	+	9	639	c.639C>A	c.(637-639)gcC>gcA	p.A213A	FIP1L1_ENST00000358575.5_Silent_p.A198A|FIP1L1_ENST00000306932.6_Intron|FIP1L1_ENST00000507922.1_Silent_p.A198A|FIP1L1_ENST00000337488.6_Silent_p.A213A			Q6UN15	FIP1_HUMAN	factor interacting with PAPOLA and CPSF1	213	Necessary for stimulating PAPOLA activity.|Sufficient for interaction with CPSF4.				mRNA processing	nucleus	RNA binding			large_intestine(3)|liver(1)|ovary(1)|skin(1)	6			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			TAACTTAGGCCGAAGACTGTA	0.348000			T	PDGFRA	idiopathic hypereosinophilic syndrome								6	37					0.00198382	0.00572588	0.00198382	1	0
MYNN	55892	broad.mit.edu	37	3	169492152	169492152	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:169492152C>T	ENST00000349841.5	+	2	732	c.69C>T	c.(67-69)ctC>ctT	p.L23L	MYNN_ENST00000356716.4_Silent_p.L23L|MYNN_ENST00000544106.1_Silent_p.L23L|MYNN_ENST00000392733.1_Silent_p.L23L	NM_018657.4	NP_061127.1	Q9NPC7	MYNN_HUMAN	myoneurin	23						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			CAGGTTTTCTCTGTGACTGTA	0.428000													31	80					0	0	0.00178596	0	0
TTLL4	9654	broad.mit.edu	37	2	219603331	219603331	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:219603331C>T	ENST00000392102.1	+	3	1272	c.932C>T	c.(931-933)gCc>gTc	p.A311V	TTLL4_ENST00000457313.1_Missense_Mutation_p.A146V|TTLL4_ENST00000258398.4_Missense_Mutation_p.A311V|TTLL4_ENST00000442769.1_Missense_Mutation_p.A311V	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	311					protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		AATAACTTAGCCATGAGGGCA	0.537000													28	34					0	0	0.001512	0	0
ADCY8	114	broad.mit.edu	37	8	131826339	131826339	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:131826339G>A	ENST00000286355.5	-	14	4981	c.2889C>T	c.(2887-2889)ttC>ttT	p.F963F	ADCY8_ENST00000377928.3_Silent_p.F832F	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	963					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CCTTCTCTAGGAAATGGCGGG	0.522000										HNSCC(32;0.087)			17	51					0	0	0.000958276	0	0
ZNF536	9745	broad.mit.edu	37	19	31040258	31040258	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:31040258C>T	ENST00000355537.3	+	4	3879	c.3732C>T	c.(3730-3732)ccC>ccT	p.P1244P		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1244					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CCCAGGACCCCTTGGCGGGCC	0.642000													4	19					0	0	0.00024832	0	0
ZCWPW2	152098	broad.mit.edu	37	3	28562581	28562581	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:28562581G>A	ENST00000383768.2	+	9	1071	c.883G>A	c.(883-885)Gga>Aga	p.G295R	ZCWPW2_ENST00000421010.1_Missense_Mutation_p.G295R			Q504Y3	ZCPW2_HUMAN	zinc finger, CW type with PWWP domain 2	295							zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(6)|ovary(2)	17						AGAAGGACATGGAGAGGAAAT	0.383000													4	23					0	0	0.000602214	0	0
HAUS6	54801	broad.mit.edu	37	9	19058022	19058022	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:19058022G>A	ENST00000380502.3	-	16	3210	c.2743C>T	c.(2743-2745)Cca>Tca	p.P915S	HAUS6_ENST00000380496.1_Missense_Mutation_p.P779S	NM_017645.3	NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	915					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleus|spindle				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TGTTCCACTGGAGAAAACTTA	0.388000													32	15					0	0	0.00178596	0	0
MTERFD1	51001	broad.mit.edu	37	8	97258152	97258152	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:97258152T>A	ENST00000523821.1	-	6	952	c.833A>T	c.(832-834)gAt>gTt	p.D278V	MTERFD1_ENST00000522822.1_Missense_Mutation_p.D157V|MTERFD1_ENST00000524341.1_Missense_Mutation_p.D88V|MTERFD1_ENST00000287025.3_Missense_Mutation_p.D278V			Q96E29	MTER1_HUMAN	MTERF domain containing 1	278					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion	transcription regulatory region DNA binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	24	Breast(36;5.16e-05)					AACTACCAGATCTCTAGTCTG	0.363000													45	60					0	0	0.00361006	0	0
EPB41L1	2036	broad.mit.edu	37	20	34797712	34797712	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:34797712C>T	ENST00000338074.2	+	15	2132	c.1971C>T	c.(1969-1971)ttC>ttT	p.F657F	EPB41L1_ENST00000441639.1_Silent_p.F583F|EPB41L1_ENST00000373941.1_Silent_p.F657F|EPB41L1_ENST00000373946.3_Intron|EPB41L1_ENST00000202028.5_Silent_p.F583F|EPB41L1_ENST00000373950.2_Silent_p.F548F|EPB41L1_ENST00000479336.1_3'UTR	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	657					cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					GCCTGCTGTTCTCCCGGGATC	0.637000													4	15					0	0	0.00024832	0	0
RIC8B	55188	broad.mit.edu	37	12	107245347	107245347	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:107245347C>T	ENST00000392837.4	+	7	1432	c.1281C>T	c.(1279-1281)ttC>ttT	p.F427F	RIC8B_ENST00000355478.2_Silent_p.F387F|RIC8B_ENST00000549643.1_Intron|RIC8B_ENST00000392839.2_Silent_p.F427F			Q9NVN3	RIC8B_HUMAN	RIC8 guanine nucleotide exchange factor B	427					regulation of G-protein coupled receptor protein signaling pathway	cell cortex|cytosol|plasma membrane	G-protein alpha-subunit binding|guanyl-nucleotide exchange factor activity			kidney(2)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	19						CTGCTGAATTCCTTTTTGTCC	0.408000													9	22					0	0	0.000978159	0	0
MUC16	94025	broad.mit.edu	37	19	9091122	9091122	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:9091122C>T	ENST00000397910.4	-	1	896	c.693G>A	c.(691-693)ggG>ggA	p.G231G		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	231	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.G231G(2)		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						AATAAAGTGTCCCAAATGATG	0.458000													28	31					0	0	0.00127121	0	0
NCOA1	8648	broad.mit.edu	37	2	24916135	24916135	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:24916135C>T	ENST00000405141.1	+	11	1438	c.727C>T	c.(727-729)Ctg>Ttg	p.L243L	NCOA1_ENST00000407230.1_Silent_p.L92L|NCOA1_ENST00000348332.3_Silent_p.L243L|NCOA1_ENST00000288599.5_Silent_p.L243L|NCOA1_ENST00000538539.1_Silent_p.L243L|NCOA1_ENST00000406961.1_Silent_p.L243L|NCOA1_ENST00000395856.3_Silent_p.L243L			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	243									PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCAGTCATGTCTGATTTGTAT	0.393000			T	PAX3	alveolar rhadomyosarcoma								14	73					0	0	0.00074312	0	0
PRDM10	56980	broad.mit.edu	37	11	129794919	129794919	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:129794919G>A	ENST00000358825.5	-	13	1979	c.1748C>T	c.(1747-1749)tCa>tTa	p.S583L	PRDM10_ENST00000423662.2_Missense_Mutation_p.S497L|PRDM10_ENST00000526082.1_Missense_Mutation_p.S497L|PRDM10_ENST00000304538.6_Missense_Mutation_p.S493L|PRDM10_ENST00000528746.1_Missense_Mutation_p.S553L|PRDM10_ENST00000360871.3_Missense_Mutation_p.S579L	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN	PR domain containing 10	583					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)		CTTCTGGTCTGAGTGGAGCTT	0.493000													28	104					0	0	0.00375469	0	0
RP11-24M17.5	0	broad.mit.edu	37	15	76067956	76067956	+	RNA	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:76067956C>T	ENST00000395215.3	+	0	63																											ACCCTGCCTTCCTCCCCACCC	0.557000													5	18					0	0	0.00198382	0	0
EML5	161436	broad.mit.edu	37	14	89153569	89153569	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:89153569C>T	ENST00000554922.1	-	19	3093	c.2845G>A	c.(2845-2847)Gga>Aga	p.G949R	EML5_ENST00000380664.5_Missense_Mutation_p.G949R|EML5_ENST00000352093.5_Missense_Mutation_p.G911R	NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	949						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CCTTTAGATCCTGGGGCCAAT	0.393000													4	13					0	0	0.000602214	0	0
THBS4	7060	broad.mit.edu	37	5	79354581	79354581	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:79354581C>T	ENST00000350881.2	+	5	890	c.700C>T	c.(700-702)Ctg>Ttg	p.L234L	THBS4_ENST00000511733.1_Silent_p.L143L|CTD-2201I18.1_ENST00000503007.1_RNA	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	234					endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		AAACCAACTCCTGGGAGAGGT	0.483000													11	43					0	0	0.00185496	0	0
PTPRT	11122	broad.mit.edu	37	20	41385139	41385139	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:41385139C>T	ENST00000373198.3	-	6	1057	c.822G>A	c.(820-822)ggG>ggA	p.G274G	PTPRT_ENST00000356100.2_Silent_p.G274G|PTPRT_ENST00000373184.1_Silent_p.G274G|PTPRT_ENST00000373190.1_Silent_p.G274G|PTPRT_ENST00000373193.3_Silent_p.G274G|PTPRT_ENST00000373201.1_Silent_p.G274G|PTPRT_ENST00000373187.1_Silent_p.G274G	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	274	Ig-like C2-type.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				ACACACCAGACCCACCATCAG	0.587000													4	14					0	0	0.00024832	0	0
TRIML1	339976	broad.mit.edu	37	4	189068223	189068223	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:189068223C>T	ENST00000332517.3	+	6	1244	c.1104C>T	c.(1102-1104)ctC>ctT	p.L368L	TRIML1_ENST00000507581.1_3'UTR	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	368	B30.2/SPRY.				multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		AGGGGAATCTCCCCAAGCCAC	0.527000													13	36					0	0	0.00316338	0	0
PLEKHA4	57664	broad.mit.edu	37	19	49362909	49362909	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:49362909G>A	ENST00000263265.6	-	7	1064	c.509C>T	c.(508-510)cCc>cTc	p.P170L	PLEKHA4_ENST00000596713.1_5'UTR|PLEKHA4_ENST00000355496.5_Missense_Mutation_p.P170L	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	170	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)		GCCCTCCCCGGGCTGGGGTCG	0.612000													6	25					0	0	0.00198382	0	0
MROH2B	133558	broad.mit.edu	37	5	41061693	41061693	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:41061693G>A	ENST00000399564.4	-	6	1044	c.594C>T	c.(592-594)gcC>gcT	p.A198A		NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		AGGCCAAAGGGGCCCACTTCT	0.488000													14	133					0	0	0.000566183	0	0
BTRC	8945	broad.mit.edu	37	10	103292172	103292172	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:103292172C>T	ENST00000370187.3	+	8	1079	c.961C>T	c.(961-963)Cga>Tga	p.R321*	BTRC_ENST00000408038.2_Nonsense_Mutation_p.R285*|BTRC_ENST00000393441.4_Nonsense_Mutation_p.R280*	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	321					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway	cytosol|nucleus|SCF ubiquitin ligase complex				endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		AAGCGGCCTTCGAGACAACAC	0.408000													25	68					0	0	0.00178596	0	0
ABCC8	6833	broad.mit.edu	37	11	17483345	17483345	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:17483345C>T	ENST00000302539.4	-	5	732	c.607G>A	c.(607-609)Gag>Aag	p.E203K	ABCC8_ENST00000389817.3_Missense_Mutation_p.E203K	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	203					carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	GGCTTCACCTCCCTCGGTGTC	0.577000													31	135					0	0	0.00327116	0	0
TPTE	7179	broad.mit.edu	37	21	10920118	10920118	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr21:10920118C>T	ENST00000298232.7	-	18	1449	c.1082G>A	c.(1081-1083)aGc>aAc	p.S361N	TPTE_ENST00000342420.5_Missense_Mutation_p.S341N|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.S379N	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	379	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.S361T(2)|p.S379T(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AAATTTTTCGCTGTGGGTTTT	0.383000													7	49					0	0	0.000978159	0	0
TRO	7216	broad.mit.edu	37	X	54954169	54954169	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:54954169C>T	ENST00000173898.7	+	11	1945	c.1833C>T	c.(1831-1833)tcC>tcT	p.S611S	TRO_ENST00000319167.8_Silent_p.S611S|TRO_ENST00000420798.2_Silent_p.S142S|TRO_ENST00000399736.1_Silent_p.S214S|TRO_ENST00000375041.2_Silent_p.S214S|TRO_ENST00000375022.4_Silent_p.S611S	NM_001039705.1	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	611	MAGE.				embryo implantation|homophilic cell adhesion	integral to plasma membrane				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						GCTTGCGCTCCTACCACGAGA	0.483000													8	15					0	0	0.000274275	0	0
ACLY	47	broad.mit.edu	37	17	40063724	40063724	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:40063724G>A	ENST00000352035.2	-	7	848	c.718C>T	c.(718-720)Ccc>Tcc	p.P240S	ACLY_ENST00000393896.2_Missense_Mutation_p.P240S|ACLY_ENST00000353196.1_Missense_Mutation_p.P240S|ACLY_ENST00000537919.1_Intron|ACLY_ENST00000590151.1_Missense_Mutation_p.P240S	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	240					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				CCGAAGGGGGGAGGGAACTCG	0.582000													8	70					0	0	0.000442599	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37430756	37430756	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:37430756G>A	ENST00000374660.1	+	7	862	c.763G>A	c.(763-765)Gaa>Aaa	p.E255K	ANKRD30A_ENST00000602533.1_Missense_Mutation_p.E255K|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.E255K			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	311						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						ACCCTTGGTGGAAAGAACACC	0.498000													6	28					0	0	0.00198382	0	0
KIAA1462	57608	broad.mit.edu	37	10	30315406	30315406	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:30315406G>A	ENST00000375377.1	-	3	3772	c.3671C>T	c.(3670-3672)cCa>cTa	p.P1224L		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	1224										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						TGCCACACTTGGGGTTCTTTC	0.488000													32	57					0	0	0.00327116	0	0
APOB	338	broad.mit.edu	37	2	21225802	21225802	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:21225802G>A	ENST00000233242.1	-	29	12619	c.12492C>T	c.(12490-12492)ttC>ttT	p.F4164F		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	4164					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TGAGTCCCTGGAAACTGGCTT	0.473000													88	90					0	0	0.00361006	0	0
WDR60	55112	broad.mit.edu	37	7	158723148	158723148	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:158723148C>T	ENST00000407559.3	+	21	2646	c.2488C>T	c.(2488-2490)Ctg>Ttg	p.L830L		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	830										NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		CTTTTTAGGTCTGATGCCTGG	0.398000													6	36					0	0	0.00198382	0	0
COL14A1	7373	broad.mit.edu	37	8	121295983	121295983	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:121295983A>T	ENST00000297848.3	+	32	4203	c.3933A>T	c.(3931-3933)aaA>aaT	p.K1311N	COL14A1_ENST00000247781.3_Missense_Mutation_p.K1216N|COL14A1_ENST00000309791.4_Missense_Mutation_p.K1311N	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	1311	Nonhelical region (NC4).|TSP N-terminal.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TTTTAAATAAAAATTCTGACC	0.383000													11	80					0	0	0.000673444	0	0
ATG2A	23130	broad.mit.edu	37	11	64678105	64678105	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:64678105G>A	ENST00000421419.2	-	12	1804	c.1690C>T	c.(1690-1692)Ctg>Ttg	p.L564L	ATG2A_ENST00000377264.3_Silent_p.L564L			Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	564							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						ACACGGCGCAGGATCTGTGTG	0.682000													3	5					0	0	6.4e-05	0	0
NPY4R	5540	broad.mit.edu	37	10	47086898	47086898	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:47086898G>A	ENST00000374312.1	+	3	534	c.115G>A	c.(115-117)Gac>Aac	p.D39N	NPY4R_ENST00000395716.1_Missense_Mutation_p.D39N	NM_005972.4	NP_005963.3			neuropeptide Y receptor Y4																		GGATTCCGTGGACGTGATGGT	0.532000													10	94					0	0	0.00136819	0	0
TPR	7175	broad.mit.edu	37	1	186286631	186286631	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:186286631G>A	ENST00000367478.3	-	49	7219	c.6923C>T	c.(6922-6924)cCt>cTt	p.P2308L		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	2308					carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TGAGCTAGAAGGAGGATCCTG	0.433000			T	NTRK1	papillary thyroid								12	59					0	0	0.00244969	0	0
CSTF1	1477	broad.mit.edu	37	20	54974341	54974341	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:54974341C>T	ENST00000217109.4	+	5	1316	c.964C>T	c.(964-966)Ctc>Ttc	p.L322F	CSTF1_ENST00000493039.1_3'UTR	NM_001033521.1|NM_001324.2	NP_001028693.1|NP_001315.1	Q05048	CSTF1_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kDa	322					mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	15			Colorectal(105;0.202)			TAAATACATTCTCTCAAGTGG	0.393000													6	94					0	0	0.00116845	0	0
PRKCD	5580	broad.mit.edu	37	3	53223221	53223221	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:53223221C>T	ENST00000394729.2	+	16	2030	c.1702C>T	c.(1702-1704)Ccc>Tcc	p.P568S	PRKCD_ENST00000330452.3_Missense_Mutation_p.P568S	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN	protein kinase C, delta	568	Protein kinase.				activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding	p.P568A(1)		breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)		GCCACATTATCCCCGCTGGAT	0.617000													5	26					0	0	0.00116845	0	0
PAPLN	89932	broad.mit.edu	37	14	73716792	73716792	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:73716792G>A	ENST00000427855.1	+	6	537	c.435G>A	c.(433-435)aaG>aaA	p.K145K	PAPLN_ENST00000340738.5_Silent_p.K145K|PAPLN_ENST00000381166.3_Silent_p.K145K|PAPLN_ENST00000554301.1_Silent_p.K145K|PAPLN_ENST00000555445.1_Silent_p.K145K			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	145						proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		AGCCTGGCAAGAGGGATGTCT	0.627000													3	4					0	0	6.4e-05	0	0
RUNX1T1	862	broad.mit.edu	37	8	92988143	92988143	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:92988143C>T	ENST00000523629.1	-	10	1792	c.1338G>A	c.(1336-1338)tgG>tgA	p.W446*	GS1-5L10.1_ENST00000522980.1_RNA|RUNX1T1_ENST00000518844.1_Nonsense_Mutation_p.W419*|RUNX1T1_ENST00000396218.1_Nonsense_Mutation_p.W419*|RUNX1T1_ENST00000436581.2_Nonsense_Mutation_p.W457*|RUNX1T1_ENST00000360348.2_Nonsense_Mutation_p.W409*|RUNX1T1_ENST00000265814.3_Nonsense_Mutation_p.W446*|RUNX1T1_ENST00000520724.1_Nonsense_Mutation_p.W409*|RUNX1T1_ENST00000422361.2_Nonsense_Mutation_p.W409*	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	446					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			CAGCTTTCTTCCAGATCTCCT	0.473000													15	152					0	0	0.000566183	0	0
GDF10	2662	broad.mit.edu	37	10	48426745	48426745	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:48426745T>C	ENST00000224605.2	-	3	1527	c.1262A>G	c.(1261-1263)aAc>aGc	p.N421S		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	421					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						GGTGGCATGGTTGGATGGACG	0.592000											OREG0020165	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	38					0	0	0.00116845	0	0
SCML2	10389	broad.mit.edu	37	X	18338463	18338463	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:18338463A>T	ENST00000251900.4	-	6	634	c.475T>A	c.(475-477)Tta>Ata	p.L159I		NM_006089.2	NP_006080.1	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2 (Drosophila)	159					anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					TTCTTAAATAATGTGGCAGAT	0.348000													22	54					0	0	0.00278032	0	0
MOV10	4343	broad.mit.edu	37	1	113231668	113231668	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:113231668C>T	ENST00000369644.1	+	4	1110	c.81C>T	c.(79-81)gcC>gcT	p.A27A	MOV10_ENST00000369645.1_Silent_p.A83A|MOV10_ENST00000413052.2_Silent_p.A83A|MOV10_ENST00000357443.2_Silent_p.A83A|MOV10_ENST00000468624.1_3'UTR			Q9HCE1	MOV10_HUMAN	Mov10, Moloney leukemia virus 10, homolog (mouse)	83					mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		ACCGCTGGGCCGACGTGCGGT	0.527000													10	47					0	0	0.000442599	0	0
ING1	3621	broad.mit.edu	37	13	111367820	111367820	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr13:111367820C>T	ENST00000375774.3	+	1	492	c.30C>T	c.(28-30)tcC>tcT	p.S10S	ING1_ENST00000464141.1_3'UTR|ING1_ENST00000338450.7_Intron|ING1_ENST00000333219.7_Intron|ING1_ENST00000375775.3_Intron	NM_005537.4	NP_005528.3	Q9UK53	ING1_HUMAN	inhibitor of growth family, member 1	10					cell cycle|negative regulation of cell growth|negative regulation of cell proliferation	nucleus	zinc ion binding			endometrium(4)|large_intestine(6)|lung(1)|ovary(1)	12	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.188)			CTTATCATTCCCCTGCGGAAC	0.502000													24	41					0	0	0.000720815	0	0
ANKRD35	148741	broad.mit.edu	37	1	145562034	145562034	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:145562034C>T	ENST00000355594.4	+	10	1809	c.1722C>T	c.(1720-1722)gcC>gcT	p.A574A		NM_144698.3	NP_653299.3	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	574										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TAAAGGCAGCCCCAGGGAGCA	0.602000													7	32					0	0	0.00198382	0	0
KNDC1	85442	broad.mit.edu	37	10	135038169	135038169	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:135038169C>T	ENST00000304613.3	+	30	5046	c.5025C>T	c.(5023-5025)atC>atT	p.I1675I	KNDC1_ENST00000368572.2_Silent_p.I1677I			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1675	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		GAAGGAACATCGCAAAGGTGG	0.592000													6	10					0	0	0.00307968	0	0
MTHFD2L	441024	broad.mit.edu	37	4	75065601	75065601	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:75065601T>C	ENST00000395759.2	+	4	569	c.542T>C	c.(541-543)cTt>cCt	p.L181P	MTHFD2L_ENST00000331145.6_Missense_Mutation_p.L123P|MTHFD2L_ENST00000433372.1_Missense_Mutation_p.L46P|MTHFD2L_ENST00000325278.6_Missense_Mutation_p.L123P	NM_001144978.1	NP_001138450.1	Q9H903	MTD2L_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2-like	123					folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process		binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity			central_nervous_system(1)|endometrium(1)|lung(4)|ovary(2)	8			all cancers(17;0.0101)|Lung(101;0.196)			AGATTGTGCCTTGATCAGCAT	0.398000													9	50					0	0	0.000673444	0	0
TAS2R60	338398	broad.mit.edu	37	7	143140874	143140874	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:143140874C>T	ENST00000332690.1	+	1	329	c.329C>T	c.(328-330)tCc>tTc	p.S110F	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	110					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					ACCTTATGGTCCTCTACCTGG	0.483000													17	135					0	0	0.000958276	0	0
MFSD9	84804	broad.mit.edu	37	2	103340299	103340299	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:103340299G>A	ENST00000258436.5	-	5	540	c.497C>T	c.(496-498)cCg>cTg	p.P166L		NM_032718.3	NP_116107.3	Q8NBP5	MFSD9_HUMAN	major facilitator superfamily domain containing 9	166					transmembrane transport	integral to membrane|plasma membrane	transporter activity			breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						GATTACAAGCGGCCGTTCCTT	0.498000													13	45					0	0	0.00121646	0	0
TUFM	7284	broad.mit.edu	37	16	28855778	28855778	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:28855778G>A	ENST00000313511.3	-	6	917	c.779C>T	c.(778-780)cCt>cTt	p.P260L		NM_003321.4	NP_003312.3	P49411	EFTU_HUMAN	Tu translation elongation factor, mitochondrial	257						mitochondrial nucleoid	GTP binding|GTPase activity|protein binding|translation elongation factor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13						CAGCAGGAAAGGCTTCTCCAG	0.602000													6	29					0	0	0.00116845	0	0
ATP9B	374868	broad.mit.edu	37	18	77013536	77013536	+	Silent	SNP	C	C	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:77013536C>A	ENST00000426216.2	+	12	1280	c.1263C>A	c.(1261-1263)ccC>ccA	p.P421P	ATP9B_ENST00000307671.7_Silent_p.P421P	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	421					ATP biosynthetic process	integral to membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		ACATCATTCCCATAAGGTAAG	0.328000													8	126					1.12685e-05	3.27172e-05	0.000274275	1	0
SNTB1	6641	broad.mit.edu	37	8	121644714	121644714	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:121644714C>T	ENST00000395601.3	-	4	1380	c.966G>A	c.(964-966)gaG>gaA	p.E322E	SNTB1_ENST00000519177.1_5'UTR|SNTB1_ENST00000517992.1_Silent_p.E322E	NM_021021.3	NP_066301.1	Q13884	SNTB1_HUMAN	syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)	322	PH 2.				muscle contraction	cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|calmodulin binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)			GATGCCTAATCTCTCGGCTCC	0.512000													5	39					0	0	0.00198382	0	0
C12orf76	400073	broad.mit.edu	37	12	110495059	110495059	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:110495059G>A	ENST00000309050.5	-	4	598	c.234C>T	c.(232-234)ctC>ctT	p.L78L	C12orf76_ENST00000548191.1_Intron|C12orf76_ENST00000548936.1_Intron	NM_207435.1	NP_997318.1	Q8N812	CL076_HUMAN	chromosome 12 open reading frame 76	78										endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6						GCTCTGCAGGGAGGATGTGCC	0.502000													9	25					0	0	0.000978159	0	0
CUL2	8453	broad.mit.edu	37	10	35333706	35333706	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:35333706G>A	ENST00000374748.1	-	8	910	c.597C>T	c.(595-597)ccC>ccT	p.P199P	CUL2_ENST00000374749.3_Silent_p.P199P|CUL2_ENST00000374742.1_Silent_p.P199P|CUL2_ENST00000374751.3_Silent_p.P199P|CUL2_ENST00000602371.1_Silent_p.P142P|CUL2_ENST00000537177.1_Silent_p.P218P|CUL2_ENST00000374746.1_Silent_p.P199P			Q13617	CUL2_HUMAN	cullin 2	199					cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						TTACCTTTAAGGGGAATTTTT	0.318000													11	55					0	0	0.000978159	0	0
SNX16	64089	broad.mit.edu	37	8	82751866	82751866	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:82751866T>C	ENST00000396330.2	-	3	862	c.356A>G	c.(355-357)gAa>gGa	p.E119G	SNX16_ENST00000345957.4_Missense_Mutation_p.E119G|SNX16_ENST00000353788.4_Missense_Mutation_p.E119G	NM_022133.3	NP_071416.2	P57768	SNX16_HUMAN	sorting nexin 16	119	PX.				cell communication|early endosome to late endosome transport|endosome to lysosome transport|protein targeting to lysosome	early endosome membrane|extrinsic to endosome membrane|late endosome membrane|lysosome	identical protein binding|phosphatidylinositol binding			large_intestine(1)|ovary(1)|pancreas(1)|skin(2)	5						AGCTCTTTCTTCCATCACTTC	0.358000													31	189					0	0	0.00111076	0	0
TAF15	8148	broad.mit.edu	37	17	34171161	34171161	+	Splice_Site	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:34171161C>T	ENST00000588240.1	+	13	1202	c.1088_splice	c.e13+1	p.P363_splice	TAF15_ENST00000311979.3_Splice_Site_p.P360_splice|TAF15_ENST00000592237.1_Splice_Site_p.P272_splice	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	Q92804	RBP56_HUMAN	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa	363	Arg/Gly-rich.				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		TTGCCCTAATCCGTAAGTGTC	0.527000			T	"""TEC, CHN1, ZNF384"""	"""extraskeletal myxoid chondrosarcomas, ALL"""								9	58					0	0	0.000673444	0	0
ZNF260	339324	broad.mit.edu	37	19	37005502	37005502	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:37005502G>A	ENST00000523638.1	-	3	1760	c.639C>T	c.(637-639)atC>atT	p.I213I	ZNF260_ENST00000593142.1_Silent_p.I213I|ZNF260_ENST00000592282.1_Silent_p.I213I|ZNF260_ENST00000588993.1_Silent_p.I213I	NM_001166036.1|NM_001166037.1|NM_001166038.1	NP_001159508.1|NP_001159509.1|NP_001159510.1	Q3ZCT1	ZN260_HUMAN	zinc finger protein 260	213					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)	15	Esophageal squamous(110;0.162)					CTCCAGTATGGATTCTCTGAT	0.398000													24	72					0	0	0.00229938	0	0
BAZ2A	11176	broad.mit.edu	37	12	57009263	57009263	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:57009263A>C	ENST00000179765.5	-	3	464	c.265T>G	c.(265-267)Tgt>Ggt	p.C89G	BAZ2A_ENST00000551812.1_Missense_Mutation_p.C91G|BAZ2A_ENST00000549884.1_Missense_Mutation_p.C89G|BAZ2A_ENST00000379441.3_Missense_Mutation_p.C91G			Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	91					chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						TTCCAGAGACAGTCGTAGGCC	0.542000													9	35					0	0	0.000442599	0	0
KRT73	319101	broad.mit.edu	37	12	53002204	53002204	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:53002204C>T	ENST00000305748.3	-	9	1433	c.1399G>A	c.(1399-1401)Ggc>Agc	p.G467S	RP11-641A6.2_ENST00000551089.1_RNA	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	467	Tail.					keratin filament	structural molecule activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		GCCCCTGTGCCTGCCATCCCG	0.622000													6	13					0	0	0.00307968	0	0
WNK1	65125	broad.mit.edu	37	12	992579	992579	+	Silent	SNP	C	C	T	rs142181848	byFrequency	TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:992579C>T	ENST00000537687.1	+	16	4931	c.4288C>T	c.(4288-4290)Cta>Tta	p.L1430L	WNK1_ENST00000535572.1_Silent_p.L923L|WNK1_ENST00000530271.2_Silent_p.L1668L|WNK1_ENST00000340908.4_Silent_p.L763L|WNK1_ENST00000315939.6_Silent_p.L1170L	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1170					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			TGACTTTATTCTAGCAATAGA	0.378000													16	60					0	0	0.00400662	0	0
NPY4R	5540	broad.mit.edu	37	10	47087414	47087414	+	Missense_Mutation	SNP	C	C	T	rs142029092	by1000genomes	TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:47087414C>T	ENST00000374312.1	+	3	1050	c.631C>T	c.(631-633)Cgc>Tgc	p.R211C	NPY4R_ENST00000395716.1_Missense_Mutation_p.R211C	NM_005972.4	NP_005963.3			neuropeptide Y receptor Y4									p.R211C(1)									GGCTCACCACCGCACCATCTA	0.582000													8	73					0	0	0.000274275	0	0
OR2AK2	391191	broad.mit.edu	37	1	248129444	248129444	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:248129444C>T	ENST00000366480.3	+	1	910	c.811C>T	c.(811-813)Ctc>Ttc	p.L271F	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			TGCAACCACTCTCTTTACCTA	0.478000													6	21					0	0	0.000274275	0	0
CPN1	1369	broad.mit.edu	37	10	101829480	101829480	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:101829480C>T	ENST00000370418.3	-	3	818	c.567G>A	c.(565-567)tgG>tgA	p.W189*		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	189	Catalytic.				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		CCTGACTTTTCCAGTTGTCTG	0.448000													19	61					0	0	0.00074312	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971109	21971109	+	Missense_Mutation	SNP	G	G	C	rs34968276		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:21971109G>C	ENST00000579755.1	-	2	584	c.292C>G	c.(292-294)Cga>Gga	p.R98G	CDKN2A_ENST00000497750.1_Missense_Mutation_p.H32Q|CDKN2A_ENST00000304494.5_Missense_Mutation_p.H83Q|CDKN2A_ENST00000446177.1_Missense_Mutation_p.H83Q|CDKN2A_ENST00000479692.2_Missense_Mutation_p.H32Q|CDKN2A_ENST00000498628.2_Missense_Mutation_p.H32Q|CDKN2A_ENST00000530628.2_Missense_Mutation_p.R98G|CDKN2A_ENST00000361570.3_Missense_Mutation_p.R139G|CDKN2A_ENST00000579122.1_Missense_Mutation_p.H83Q|CDKN2A_ENST00000498124.1_Missense_Mutation_p.H83Q|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000494262.1_Missense_Mutation_p.H32Q|CDKN2A_ENST00000578845.2_Missense_Mutation_p.H32Q			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	0			H -> P (in CMM2).|H -> Q (in CMM2).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.D84fs*63(2)|p.H83fs*2(2)|p.D84fs*1(1)|p.0(1)|p.V82_G89>G(1)|p.R139*(1)|p.E61_L94del(1)|p.D84fs*36(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.P81_A85del(1)|p.R80fs*34(1)|p.V82_E88del(1)|p.H83Q(1)|p.V82fs*62(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GGGCAGCGTCGTGCACGGGTC	0.741000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			12	28					0	0	0.00316338	0	0
KIAA1210	57481	broad.mit.edu	37	X	118223552	118223552	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:118223552C>T	ENST00000402510.2	-	11	1640	c.1641G>A	c.(1639-1641)ttG>ttA	p.L547L		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	547										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						CACACCCACTCAATCCTGAAA	0.483000													42	103					0	0	0.00361006	0	0
ZNF563	147837	broad.mit.edu	37	19	12433461	12433461	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:12433461G>A	ENST00000293725.5	-	2	273	c.68C>T	c.(67-69)cCa>cTa	p.P23L	ZNF563_ENST00000595977.1_Missense_Mutation_p.P23L	NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN	zinc finger protein 563	23	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						CTTCTGTGATGGACCCAGCAA	0.438000													36	42					0	0	0.00111076	0	0
SLC25A52	147407	broad.mit.edu	37	18	29339985	29339985	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:29339985C>T	ENST00000269205.5	-	1	858	c.670G>A	c.(670-672)Gat>Aat	p.D224N	SLC25A52_ENST00000579441.2_Missense_Mutation_p.D214N	NM_001034172.2	NP_001029344.3	Q3SY17	MCAR2_HUMAN	solute carrier family 25, member 52	214					transport	integral to membrane|mitochondrial inner membrane											CCGATAAAATCATTGACCAAA	0.453000													23	100					0	0	0.00332997	0	0
MMP16	4325	broad.mit.edu	37	8	89086840	89086840	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:89086840G>A	ENST00000286614.6	-	7	1496	c.1215C>T	c.(1213-1215)ttC>ttT	p.F405F	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	405	Hemopexin-like 2.				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						TACCTTTAAAGAACACAAAAT	0.393000													5	45					0	0	0.00198382	0	0
HS2ST1	9653	broad.mit.edu	37	1	87538833	87538833	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:87538833C>T	ENST00000370550.5	+	2	704	c.341C>T	c.(340-342)cCa>cTa	p.P114L	HS2ST1_ENST00000370551.4_Missense_Mutation_p.P114L|HS2ST1_ENST00000356813.4_Missense_Mutation_p.P88L|RP5-1052I5.2_ENST00000370548.2_Missense_Mutation_p.P88L	NM_012262.3	NP_036394.1	Q7LGA3	HS2ST_HUMAN	heparan sulfate 2-O-sulfotransferase 1	114						Golgi membrane|integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)	9		Lung NSC(277;0.153)		all cancers(265;0.00699)|Epithelial(280;0.0261)		AAAAATAATCCAGTGATGTCA	0.368000													16	67					0	0	0.00400662	0	0
RP1	6101	broad.mit.edu	37	8	55541384	55541384	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:55541384C>T	ENST00000220676.1	+	4	5090	c.4942C>T	c.(4942-4944)Cct>Tct	p.P1648S		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1648					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)			ATCTTTTTTTCCTGGGTCTAC	0.378000													20	105					0	0	0.00121646	0	0
FLNC	2318	broad.mit.edu	37	7	128483878	128483878	+	Missense_Mutation	SNP	G	G	A	rs143970363	by1000genomes	TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:128483878G>A	ENST00000325888.8	+	19	3101	c.2840G>A	c.(2839-2841)gGc>gAc	p.G947D	FLNC_ENST00000346177.6_Missense_Mutation_p.G947D	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	947					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GTGACTTATGGCGGGGACCCT	0.532000													7	85					0	0	0.00307968	0	0
LRP1	4035	broad.mit.edu	37	12	57603863	57603863	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:57603863C>T	ENST00000243077.3	+	81	12957	c.12491C>T	c.(12490-12492)cCc>cTc	p.P4164L		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	4164	EGF-like 16.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CTGCTGAGCCCCAGTGGGCCT	0.622000													8	25					0	0	0.000274275	0	0
ABCA6	23460	broad.mit.edu	37	17	67101675	67101675	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:67101675C>T	ENST00000284425.2	-	20	2842	c.2668G>A	c.(2668-2670)Gaa>Aaa	p.E890K		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	890					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					AAATACAATTCGTTTTTAAAT	0.328000													8	25					0	0	0.000274275	0	0
OASL	8638	broad.mit.edu	37	12	121458759	121458759	+	Missense_Mutation	SNP	G	G	A	rs139160700	by1000genomes	TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:121458759G>A	ENST00000257570.5	-	6	1420	c.1150C>T	c.(1150-1152)Cgg>Tgg	p.R384W	OASL_ENST00000339275.5_3'UTR	NM_003733.3	NP_003724.1	Q15646	OASL_HUMAN	2'-5'-oligoadenylate synthetase-like	384	Ubiquitin-like 1.				interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CTGGTCCTCCGGATTTTCTCT	0.542000													38	98					0	0	0.00128727	0	0
SALL4	57167	broad.mit.edu	37	20	50408058	50408058	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:50408058C>T	ENST00000217086.4	-	2	1075	c.964G>A	c.(964-966)Gtg>Atg	p.V322M	SALL4_ENST00000395997.3_Missense_Mutation_p.V322M|SALL4_ENST00000371539.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	322					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TTCGGGAGCACCCGGGTCCCA	0.637000													5	26					0	0	0.000602214	0	0
CYP2C19	1557	broad.mit.edu	37	10	96534882	96534882	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:96534882G>A	ENST00000371321.3	+	2	318	c.236G>A	c.(235-237)gGa>gAa	p.G79E	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760.1	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	79					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity	p.G79E(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	GTGCTGCATGGATATGAAGTG	0.458000													16	35					0	0	0.00400662	0	0
ZNF611	81856	broad.mit.edu	37	19	53217299	53217299	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:53217299C>A	ENST00000543227.1	-	5	433	c.159G>T	c.(157-159)atG>atT	p.M53I	ZNF611_ENST00000319783.1_Missense_Mutation_p.M53I|ZNF611_ENST00000540744.1_Missense_Mutation_p.M53I|ZNF611_ENST00000602162.1_Intron|ZNF611_ENST00000595798.1_Intron|ZNF611_ENST00000600943.1_Intron|ZNF611_ENST00000453741.2_Intron|ZNF611_ENST00000596702.1_Intron	NM_001161499.1	NP_001154971.1	Q8N823	ZN611_HUMAN	zinc finger protein 611	53	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		AGTTCTCCAACATCACTTCCC	0.493000													13	87					1.5842e-08	4.61273e-08	0.00185496	1	0
ERG	2078	broad.mit.edu	37	21	39755561	39755561	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr21:39755561G>A	ENST00000442448.1	-	11	1424	c.1153C>T	c.(1153-1155)Cac>Tac	p.H385Y	ERG_ENST00000398907.1_Missense_Mutation_p.H379Y|ERG_ENST00000288319.7_Missense_Mutation_p.H402Y|ERG_ENST00000398911.1_Missense_Mutation_p.H385Y|ERG_ENST00000398897.1_Missense_Mutation_p.H286Y|ERG_ENST00000398919.2_Missense_Mutation_p.H409Y|ERG_ENST00000417133.2_Missense_Mutation_p.H409Y|ERG_ENST00000398905.1_Missense_Mutation_p.H378Y|ERG_ENST00000398910.1_Missense_Mutation_p.H386Y|ERG_ENST00000453032.2_Missense_Mutation_p.H310Y	NM_004449.4	NP_004440.1	P11308	ERG_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog	409					cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity		EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)				TCCGGGGGGTGGGGCTGGAGG	0.587000			T	"""EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"""	"""Ewing sarcoma, prostate, AML"""								15	31					0	0	0.00400662	0	0
GABRG2	2566	broad.mit.edu	37	5	161520953	161520953	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:161520953G>A	ENST00000356592.3	+	2	687	c.227G>A	c.(226-228)gGa>gAa	p.G76E	GABRG2_ENST00000414552.2_Missense_Mutation_p.G76E|GABRG2_ENST00000393933.4_5'UTR|GABRG2_ENST00000361925.4_Missense_Mutation_p.G76E	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	76					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		CTGCTGGAAGGATATGACAAT	0.373000													8	25					0	0	0.00307968	0	0
DYSF	8291	broad.mit.edu	37	2	71708023	71708023	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:71708023G>A	ENST00000258104.3	+	2	376	c.99G>A	c.(97-99)aaG>aaA	p.K33K	DYSF_ENST00000409366.1_Silent_p.K34K|DYSF_ENST00000394120.2_Silent_p.K34K|DYSF_ENST00000409651.1_Silent_p.K34K|DYSF_ENST00000413539.2_Silent_p.K33K|DYSF_ENST00000410020.3_Silent_p.K34K|DYSF_ENST00000410041.1_Silent_p.K34K|DYSF_ENST00000409762.1_Silent_p.K33K|DYSF_ENST00000409582.3_Silent_p.K33K|DYSF_ENST00000409744.1_Silent_p.K34K|DYSF_ENST00000429174.2_Silent_p.K33K	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	33	C2 1.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GGGTGAAGAAGAGAACCAAAG	0.483000													4	17					0	0	0.000274275	0	0
HECTD4	283450	broad.mit.edu	37	12	112600322	112600322	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:112600322G>A	ENST00000550722.1	-	76	13083	c.12688C>T	c.(12688-12690)Cca>Tca	p.P4230S	HECTD4_ENST00000430131.2_Missense_Mutation_p.P3954S|HECTD4_ENST00000377560.5_Missense_Mutation_p.P4204S	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		CGAGAGTCTGGGGAACCTACA	0.557000													7	21					0	0	0.00198382	0	0
FOXP2	93986	broad.mit.edu	37	7	114299459	114299459	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:114299459C>T	ENST00000408937.3	+	13	1966	c.1592C>T	c.(1591-1593)cCa>cTa	p.P531L	FOXP2_ENST00000393498.2_Missense_Mutation_p.P485L|FOXP2_ENST00000350908.4_Missense_Mutation_p.P506L|FOXP2_ENST00000393494.2_Missense_Mutation_p.P506L|FOXP2_ENST00000393500.3_3'UTR|FOXP2_ENST00000393491.3_Intron|FOXP2_ENST00000393489.3_Missense_Mutation_p.P414L|FOXP2_ENST00000403559.4_Missense_Mutation_p.P523L	NM_001172766.2|NM_014491.3|NM_148898.3	NP_001166237.1|NP_055306.1|NP_683696.2	O15409	FOXP2_HUMAN	forkhead box P2	506					camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						GTCAGACCTCCATTTACTTAT	0.284000													13	128					0	0	0.00244969	0	0
PTPRB	5787	broad.mit.edu	37	12	70928615	70928615	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:70928615C>T	ENST00000334414.6	-	30	6246	c.6202G>A	c.(6202-6204)Ggt>Agt	p.G2068S	PTPRB_ENST00000550358.1_Missense_Mutation_p.G1980S|PTPRB_ENST00000550857.1_Missense_Mutation_p.G1760S|PTPRB_ENST00000538708.1_Missense_Mutation_p.G1760S|RP11-588H23.3_ENST00000551438.1_RNA|PTPRB_ENST00000451516.2_Missense_Mutation_p.G1760S|RP11-588H23.3_ENST00000547656.1_RNA|PTPRB_ENST00000261266.5_Missense_Mutation_p.G1850S|RP11-588H23.3_ENST00000548687.1_RNA|RP11-588H23.3_ENST00000549460.1_RNA|RP11-588H23.3_ENST00000546836.1_RNA	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1850					angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TAACATACACCGCATATCTTA	0.522000													4	19					0	0	0.000602214	0	0
HPS3	84343	broad.mit.edu	37	3	148858068	148858068	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:148858068C>T	ENST00000296051.2	+	2	635	c.495C>T	c.(493-495)atC>atT	p.I165I	HPS3_ENST00000460120.1_Intron	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	165						cytoplasm				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			AGTACCAGATCATTAATGAGG	0.378000									Hermansky-Pudlak syndrome				23	87					0	0	0.00395357	0	0
OR51B4	79339	broad.mit.edu	37	11	5322817	5322817	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:5322817G>A	ENST00000380224.1	-	1	409	c.360C>T	c.(358-360)ttC>ttT	p.F120F	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron	NM_033179.2	NP_149419.2	Q9Y5P0	O51B4_HUMAN	olfactory receptor, family 51, subfamily B, member 4	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGATGGCAATGAAACAGTCAT	0.458000													16	37					0	0	0.00400662	0	0
KDM2B	84678	broad.mit.edu	37	12	121970721	121970721	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:121970721G>A	ENST00000377069.4	-	8	1234	c.828C>T	c.(826-828)ttC>ttT	p.F276F	KDM2B_ENST00000543852.1_Silent_p.F76F|KDM2B_ENST00000536437.1_Silent_p.F190F|KDM2B_ENST00000377071.4_Silent_p.F307F|KDM2B_ENST00000538046.2_Intron	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	307	JmjC.				embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						CGGAAGGGATGAAAAATGTGT	0.577000													8	45					0	0	0.000274275	0	0
TPH2	121278	broad.mit.edu	37	12	72335409	72335409	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:72335409G>A	ENST00000333850.3	+	2	292	c.151G>A	c.(151-153)Gga>Aga	p.G51R	TPH2_ENST00000546576.1_3'UTR	NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	51					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	AGGCAACAAGGGAAGCAGCAA	0.413000													7	19					0	0	0.00198382	0	0
NCOA5	57727	broad.mit.edu	37	20	44692186	44692186	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:44692186G>A	ENST00000290231.6	-	7	1127	c.963C>T	c.(961-963)atC>atT	p.I321I		NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	321					regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	aminoacyl-tRNA ligase activity|ATP binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				TTTCCTGCAGGATGGCTTCAT	0.582000													6	26					0	0	0.00198382	0	0
IDUA	3425	broad.mit.edu	37	4	998168	998168	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:998168C>G	ENST00000453894.1	+	11	2103	c.2015C>G	c.(2014-2016)cCg>cGg	p.P672R	IDUA_ENST00000514224.1_Missense_Mutation_p.P518R|IDUA_ENST00000247933.4_Missense_Mutation_p.P650R			P35475	IDUA_HUMAN	iduronidase, alpha-L-	650					disaccharide metabolic process	lysosome	cation binding|L-iduronidase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(23;0.0158)		Laronidase(DB00090)	CCCCCATCCCCGGGCAATCCA	0.677000													3	14					0	0	6.4e-05	0	0
IFT172	26160	broad.mit.edu	37	2	27680767	27680767	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:27680767G>C	ENST00000260570.3	-	28	3155	c.3052C>G	c.(3052-3054)Cgc>Ggc	p.R1018G		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172 homolog (Chlamydomonas)	1018					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					CCTACCAGGCGGATCATGTCA	0.507000													9	36					0	0	0.000274275	0	0
COBL	23242	broad.mit.edu	37	7	51111157	51111157	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:51111157G>A	ENST00000395542.2	-	10	1759	c.1575C>T	c.(1573-1575)gaC>gaT	p.D525D	COBL_ENST00000265136.7_Silent_p.D443D			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	443										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					TTCCAGCGAGGTCCTGGTCAC	0.567000													13	58					0	0	0.00316338	0	0
LRRC8B	23507	broad.mit.edu	37	1	90049231	90049231	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:90049231C>T	ENST00000330947.2	+	5	1382	c.1022C>T	c.(1021-1023)tCc>tTc	p.S341F	LRRC8B_ENST00000439853.1_Missense_Mutation_p.S341F|LRRC8B_ENST00000358200.4_Missense_Mutation_p.S341F|RP5-1007M22.2_ENST00000443562.1_RNA	NM_001134476.1	NP_001127948.1	Q6P9F7	LRC8B_HUMAN	leucine rich repeat containing 8 family, member B	341						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		CTGAGGAGTTCCCTGAAGCAA	0.423000													18	58					0	0	0.00152264	0	0
AOC1	26	broad.mit.edu	37	7	150555081	150555081	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:150555081A>G	ENST00000493429.1	+	4	2107	c.1523A>G	c.(1522-1524)aAc>aGc	p.N508S	AOC1_ENST00000416793.2_Missense_Mutation_p.N508S|AOC1_ENST00000467291.1_Missense_Mutation_p.N508S|AOC1_ENST00000480582.1_3'UTR|AOC1_ENST00000360937.4_Missense_Mutation_p.N508S					amine oxidase, copper containing 1																		CTGATTGGCAACATACACACT	0.582000													12	61					0	0	0.00136819	0	0
KCNH8	131096	broad.mit.edu	37	3	19575156	19575156	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:19575156C>T	ENST00000328405.2	+	16	3155	c.2889C>T	c.(2887-2889)ccC>ccT	p.P963P		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	963	Ser-rich.					integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						GTGTGGATCCCTCCTCTGTGG	0.502000													8	32					0	0	0.000442599	0	0
NEMF	9147	broad.mit.edu	37	14	50295833	50295833	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:50295833G>A	ENST00000298310.5	-	13	1620	c.1171C>T	c.(1171-1173)Cct>Tct	p.P391S	NEMF_ENST00000556925.1_5'UTR|NEMF_ENST00000545773.1_Missense_Mutation_p.P349S|NEMF_ENST00000546046.1_Missense_Mutation_p.P391S			O60524	NEMF_HUMAN	nuclear export mediator factor	391						cytoplasm|nucleus				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						CTTGCAACAGGGTCTCCTTGA	0.398000													31	102					0	0	0.00283554	0	0
LIPI	149998	broad.mit.edu	37	21	15535790	15535790	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr21:15535790G>A	ENST00000344577.2	-	7	1044	c.1019C>T	c.(1018-1020)cCt>cTt	p.P340L	LIPI_ENST00000536861.1_Missense_Mutation_p.P319L	NM_198996.2	NP_945347.1	Q6XZB0	LIPI_HUMAN	lipase, member I	319					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		GGTCCTAAGAGGTCTTCCTTC	0.299000													20	57					0	0	0.00332997	0	0
ADAM28	10863	broad.mit.edu	37	8	24199149	24199149	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:24199149C>T	ENST00000265769.4	+	16	1819	c.1709C>T	c.(1708-1710)tCg>tTg	p.S570L	RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAM28_ENST00000397649.3_Missense_Mutation_p.S317L|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	570	Cys-rich.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		CAAGGTGGGTCGGATAATTTG	0.418000													21	98					0	0	0.00278032	0	0
OR2B6	26212	broad.mit.edu	37	6	27925360	27925360	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:27925360C>T	ENST00000244623.1	+	1	342	c.342C>T	c.(340-342)ctC>ctT	p.L114L		NM_012367.1	NP_036499.1	P58173	OR2B6_HUMAN	olfactory receptor, family 2, subfamily B, member 6	114					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AATATCTTCTCCTGGCCGTCA	0.463000													10	64					0	0	0.000673444	0	0
ATAD2	29028	broad.mit.edu	37	8	124384032	124384032	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:124384032G>A	ENST00000287394.5	-	4	521	c.414C>T	c.(412-414)atC>atT	p.I138I	ATAD2_ENST00000521903.1_5'UTR	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	138					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			TACTTTGAACGATGTTTCTAG	0.343000													12	76					0	0	0.00185496	0	0
SLC30A8	169026	broad.mit.edu	37	8	118184870	118184870	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:118184870C>T	ENST00000427715.2	+	11	1347	c.913C>T	c.(913-915)Cca>Tca	p.P305S	SLC30A8_ENST00000519688.1_Missense_Mutation_p.P305S|SLC30A8_ENST00000521243.1_Missense_Mutation_p.P305S|SLC30A8_ENST00000456015.2_Missense_Mutation_p.P354S	NM_001172813.1|NM_001172815.1	NP_001166284.1|NP_001166286.1	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	354					insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			GATGGAATCTCCAGTTGACCA	0.507000													21	151					0	0	0.00106085	0	0
IL16	3603	broad.mit.edu	37	15	81592017	81592017	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:81592017C>T	ENST00000394660.2	+	14	2710	c.2350C>T	c.(2350-2352)Cct>Tct	p.P784S	IL16_ENST00000560230.1_3'UTR|IL16_ENST00000394652.2_Missense_Mutation_p.P83S|IL16_ENST00000302987.4_Missense_Mutation_p.P784S	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	784					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						GAAAGGTCCTCCTGTGGCTCC	0.567000													15	41					0	0	0.000566183	0	0
SYBU	55638	broad.mit.edu	37	8	110587583	110587583	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:110587583G>A	ENST00000399066.3	-	6	2262	c.1535C>T	c.(1534-1536)cCc>cTc	p.P512L	SYBU_ENST00000533065.1_Missense_Mutation_p.P396L|SYBU_ENST00000528647.1_Missense_Mutation_p.P514L|SYBU_ENST00000533895.1_Missense_Mutation_p.P514L|SYBU_ENST00000422135.1_Missense_Mutation_p.P515L|SYBU_ENST00000529690.1_Missense_Mutation_p.P385L|SYBU_ENST00000533171.1_Missense_Mutation_p.P515L|SYBU_ENST00000276646.9_Missense_Mutation_p.P515L|SYBU_ENST00000408889.3_Missense_Mutation_p.P396L|SYBU_ENST00000532779.1_Missense_Mutation_p.P447L|SYBU_ENST00000408908.2_Missense_Mutation_p.P515L|SYBU_ENST00000529175.1_Missense_Mutation_p.P309L|SYBU_ENST00000419099.1_Missense_Mutation_p.P514L|SYBU_ENST00000433638.1_Missense_Mutation_p.P515L|SYBU_ENST00000440310.1_Missense_Mutation_p.P515L|SYBU_ENST00000528331.1_Missense_Mutation_p.P396L|SYBU_ENST00000424158.2_Missense_Mutation_p.P520L|SYBU_ENST00000446070.2_Missense_Mutation_p.P514L	NM_001099756.1	NP_001093226.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	515						cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						CAAGCTCGAGGGACAGGGGTC	0.572000													15	61					0	0	0.00400662	0	0
DNAH5	1767	broad.mit.edu	37	5	13911527	13911527	+	Missense_Mutation	SNP	C	C	T	rs141651575		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:13911527C>T	ENST00000265104.4	-	12	1716	c.1612G>A	c.(1612-1614)Gaa>Aaa	p.E538K		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	538	Stem (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)					CAAAACTCTTCGTAATCTTGG	0.343000									Kartagener syndrome				17	89					0	0	0.00229938	0	0
ANG	283	broad.mit.edu	37	14	21162135	21162135	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:21162135C>T	ENST00000336811.6	+	2	1012	c.412C>T	c.(412-414)Cac>Tac	p.H138Y	AL163636.6_ENST00000553909.1_RNA|RNASE4_ENST00000397995.2_Intron|ANG_ENST00000397990.4_Missense_Mutation_p.H138Y|RNASE4_ENST00000555835.1_Intron|RP11-903H12.3_ENST00000554286.1_lincRNA|ANG_ENST00000554073.1_Intron|RNASE4_ENST00000304704.4_Intron|RNASE4_ENST00000555597.1_Intron	NM_001145.4	NP_001136.1	P03950	ANGI_HUMAN	angiogenin, ribonuclease, RNase A family, 5	138			H -> R (in ALS9).		actin filament polymerization|activation of phospholipase A2 activity|activation of phospholipase C activity|activation of protein kinase B activity|angiogenesis|cell communication|cell death|cell migration|diacylglycerol biosynthetic process|homeostatic process|negative regulation of smooth muscle cell proliferation|negative regulation of translation|oocyte maturation|ovarian follicle development|placenta development|positive regulation of endothelial cell proliferation|positive regulation of phosphorylation|positive regulation of protein secretion|response to hormone stimulus|response to hypoxia|rRNA transcription	angiogenin-PRI complex|basal lamina|extracellular space|growth cone|neuronal cell body|nucleolus	actin binding|copper ion binding|heparin binding|pancreatic ribonuclease activity|peptide binding|receptor binding|rRNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)|prostate(1)	5	all_cancers(95;0.00387)	all_cancers(140;0.196)|all_epithelial(140;0.156)	Epithelial(56;5.13e-07)|all cancers(55;4.73e-06)	OV - Ovarian serous cystadenocarcinoma(311;3.25e-17)|GBM - Glioblastoma multiforme(265;5.56e-07)		CTTACCTGTCCACTTGGATCA	0.557000													13	46					0	0	0.00400662	0	0
COL3A1	1281	broad.mit.edu	37	2	189868843	189868843	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:189868843G>A	ENST00000304636.3	+	39	2967	c.2797G>A	c.(2797-2799)Gga>Aga	p.G933R	COL3A1_ENST00000317840.5_Intron	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	933	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	AGGAGAGAAGGGATCGCCTGG	0.493000													5	33					0	0	0.00198382	0	0
TNFSF11	8600	broad.mit.edu	37	13	43148640	43148640	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr13:43148640C>T	ENST00000239849.6	+	1	352	c.201C>T	c.(199-201)ttC>ttT	p.F67F	TNFSF11_ENST00000358545.2_Intron|TNFSF11_ENST00000544862.1_5'UTR|TNFSF11_ENST00000398795.2_5'UTR|TNFSF11_ENST00000405262.2_Intron			O14788	TNF11_HUMAN	tumor necrosis factor (ligand) superfamily, member 11	67					immune response|monocyte chemotaxis|osteoclast differentiation|positive regulation of bone resorption|positive regulation of corticotropin-releasing hormone secretion|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of homotypic cell-cell adhesion|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell activation	cytoplasm|extracellular space|integral to plasma membrane	cytokine activity|receptor activity|tumor necrosis factor receptor binding			kidney(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	10		Lung NSC(96;1.11e-05)|Breast(139;0.00868)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000249)|GBM - Glioblastoma multiforme(144;0.00119)|BRCA - Breast invasive adenocarcinoma(63;0.073)		TCGCCCTGTTCTTCTATTTCA	0.687000													4	7					0	0	0.000602214	0	0
MARCH10	162333	broad.mit.edu	37	17	60813389	60813389	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:60813389C>T	ENST00000544856.2	-	7	2215	c.1837G>A	c.(1837-1839)Gat>Aat	p.D613N	RP11-156L14.1_ENST00000584597.1_RNA|MARCH10_ENST00000583600.1_Missense_Mutation_p.D652N|MARCH10_ENST00000311269.5_Missense_Mutation_p.D614N|RP11-156L14.1_ENST00000579201.1_RNA|MARCH10_ENST00000456609.2_Missense_Mutation_p.D614N|RP11-156L14.1_ENST00000577270.1_RNA|RP11-156L14.1_ENST00000582564.1_RNA			Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	614							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						CTCCCATTATCATTTTGATTT	0.413000													22	82					0	0	0.00229938	0	0
PITPNM1	9600	broad.mit.edu	37	11	67270061	67270061	+	Silent	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:67270061G>A	ENST00000356404.3	-	3	432	c.207C>T	c.(205-207)atC>atT	p.I69I	PITPNM1_ENST00000534749.1_Silent_p.I69I|PITPNM1_ENST00000436757.2_Silent_p.I69I	NM_001130848.1|NM_004910.2	NP_001124320.1|NP_004901.2	O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	69					brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						ACCAGCCTGGGATGTGGGAGC	0.657000													6	31					0	0	0.00116845	0	0
CYSLTR1	10800	broad.mit.edu	37	X	77528275	77528275	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:77528275C>T	ENST00000373304.3	-	3	1261	c.969G>A	c.(967-969)aaG>aaA	p.K323K		NM_006639.2	NP_006630.1	Q9Y271	CLTR1_HUMAN	cysteinyl leukotriene receptor 1	323					elevation of cytosolic calcium ion concentration|respiratory gaseous exchange	integral to plasma membrane|membrane fraction	leukotriene receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14					Amlexanox(DB01025)|Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549)	AAGAGGCCTTCTTTCTGGGTA	0.368000													14	13					0	0	0.00316338	0	0
LY6G6D	58530	broad.mit.edu	37	6	31677893	31677893	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:31677893G>A	ENST00000503322.1	+	4	740	c.737G>A	c.(736-738)gGa>gAa	p.G246E	LY6G6F_ENST00000556581.1_Missense_Mutation_p.G246E|LY6G6F_ENST00000375832.4_Missense_Mutation_p.G246E|XXbac-BPG32J3.20_ENST00000461287.1_Intron																							ATGGGCCAGGGAGTTGTCATC	0.622000													41	278					0	0	0.00361006	0	0
FER1L6	654463	broad.mit.edu	37	8	124992978	124992978	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:124992978G>A	ENST00000522917.1	+	11	1543	c.1337G>A	c.(1336-1338)gGa>gAa	p.G446E	FER1L6_ENST00000399018.1_Missense_Mutation_p.G446E	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	446						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			ACTGAAGATGGAAAATCCCAA	0.468000											OREG0018964	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	51					0	0	0.00185496	0	0
UBE3A	7337	broad.mit.edu	37	15	25585310	25585310	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:25585310G>A	ENST00000232165.3	-	12	3076	c.2420C>T	c.(2419-2421)aCg>aTg	p.T807M	UBE3A_ENST00000428984.2_Missense_Mutation_p.T787M|UBE3A_ENST00000438097.1_Missense_Mutation_p.T787M|SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000397954.2_Missense_Mutation_p.T810M|UBE3A_ENST00000566215.1_Missense_Mutation_p.T787M	NM_000462.3|NM_130839.2	NP_000453.2|NP_570854.1	Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	810	HECT.				brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		GTCTGTGCCCGTTGTAAACTG	0.383000													17	62					0	0	0.000566183	0	0
PTCHD4	442213	broad.mit.edu	37	6	48036002	48036002	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:48036002C>T	ENST00000543600.1	-	1	378	c.339G>A	c.(337-339)ggG>ggA	p.G113G	PTCHD4_ENST00000339488.4_Silent_p.G130G			Q6ZW05	CF138_HUMAN	patched domain containing 4	130						integral to membrane	hedgehog receptor activity										TCTGCAGGATCCCCTCAGCCT	0.512000													12	105					0	0	0.00244969	0	0
AHNAK	79026	broad.mit.edu	37	11	62285642	62285642	+	Missense_Mutation	SNP	G	G	A	rs116181632	byFrequency	TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:62285642G>A	ENST00000378024.4	-	5	16521	c.16247C>T	c.(16246-16248)cCg>cTg	p.P5416L	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5416					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)				GTCGGACCCCGGAGTAGAGAT	0.537000													10	38					0	0	0.000978159	0	0
TNKS	8658	broad.mit.edu	37	8	9610109	9610109	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:9610109C>T	ENST00000310430.6	+	20	3152	c.3126C>T	c.(3124-3126)caC>caT	p.H1042H	TNKS_ENST00000518281.1_Silent_p.H805H	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	1042	SAM.				mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		GCCTTGAACACCTTCGGGATA	0.338000													27	126					0	0	0.00209593	0	0
DCN	1634	broad.mit.edu	37	12	91546954	91546954	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:91546954G>A	ENST00000052754.5	-	6	1166	c.665C>T	c.(664-666)tCc>tTc	p.S222F	DCN_ENST00000425043.1_Missense_Mutation_p.S75F|DCN_ENST00000547568.2_Missense_Mutation_p.S75F|DCN_ENST00000393155.1_Missense_Mutation_p.S222F|DCN_ENST00000420120.2_Missense_Mutation_p.S113F|DCN_ENST00000456569.2_Intron|DCN_ENST00000303320.3_Intron|DCN_ENST00000228329.5_Missense_Mutation_p.S113F|DCN_ENST00000441303.2_Intron|DCN_ENST00000552962.1_Missense_Mutation_p.S222F	NM_001920.3	NP_001911.1	P07585	PGS2_HUMAN	decorin	222					organ morphogenesis	extracellular space				central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						TTCCGTAAGGGAAGGAGGAAG	0.353000													15	67					0	0	0.000566183	0	0
LOC100130331	100130331	broad.mit.edu	37	1	238090427	238090427	+	RNA	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:238090427G>A	ENST00000450451.1	+	0	1933					NR_027247.2																						GGCCCTGGAGGAGCACCCAGT	0.562000													5	7					0	0	0.000602214	0	0
FREM1	158326	broad.mit.edu	37	9	14750149	14750149	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:14750149C>T	ENST00000380881.4	-	31	6351	c.5536G>A	c.(5536-5538)Gtg>Atg	p.V1846M	FREM1_ENST00000422223.2_Missense_Mutation_p.V1845M|FREM1_ENST00000380894.1_Missense_Mutation_p.V381M|FREM1_ENST00000380880.3_Missense_Mutation_p.V1845M			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1845					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		AAAATTTTCACTGCAGCTTTT	0.443000													11	54					0	0	0.00136819	0	0
FAT4	79633	broad.mit.edu	37	4	126411404	126411404	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:126411404G>A	ENST00000394329.3	+	17	13440	c.13427G>A	c.(13426-13428)gGg>gAg	p.G4476E	FAT4_ENST00000335110.5_Missense_Mutation_p.G2717E	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4476					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			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						TGTCCTCAGGGGAAGGTGTGC	0.612000													7	25					0	0	0.000442599	0	0
NRP1	8829	broad.mit.edu	37	10	33496571	33496571	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:33496571C>T	ENST00000265371.4	-	11	2213	c.1688G>A	c.(1687-1689)aGg>aAg	p.R563K	NRP1_ENST00000374822.4_Missense_Mutation_p.R563K|NRP1_ENST00000374867.2_Missense_Mutation_p.R563K|NRP1_ENST00000374821.5_Missense_Mutation_p.R563K|NRP1_ENST00000466932.1_Intron|NRP1_ENST00000374816.3_Missense_Mutation_p.R563K|NRP1_ENST00000395995.1_Missense_Mutation_p.R563K|NRP1_ENST00000374823.5_Missense_Mutation_p.R563K			O14786	NRP1_HUMAN	neuropilin 1	563	F5/8 type C 2.				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	GGGGTAGATCCTGATGAATCG	0.507000													17	57					0	0	0.000566183	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43973083	43973083	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:43973083C>T	ENST00000282406.4	+	24	3744	c.3634C>T	c.(3634-3636)Cgt>Tgt	p.R1212C		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	1212	FERM.					cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				AAGGACTGTTCGTCTGACATA	0.378000													113	135					0	0	0.00361006	0	0
CECR2	27443	broad.mit.edu	37	22	18031748	18031748	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr22:18031748C>T	ENST00000262608.8	+	17	4247	c.4247C>T	c.(4246-4248)tCg>tTg	p.S1416L	CECR2_ENST00000400573.4_Missense_Mutation_p.S1415L|CECR2_ENST00000400585.2_Missense_Mutation_p.S1273L	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	1457					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		TCGCAGGCCTCGTTCCCAAAG	0.498000													15	21					0	0	0.00316338	0	0
UGT2A2	574537	broad.mit.edu	37	4	70505195	70505195	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:70505195C>T	ENST00000457664.2	-	1	163	c.164G>A	c.(163-165)aGa>aAa	p.R55K	UGT2A1_ENST00000512704.1_Intron|UGT2A1_ENST00000286604.4_Intron|UGT2A1_ENST00000503640.1_Intron|UGT2A1_ENST00000514019.1_Missense_Mutation_p.R256K	NM_001105677.2	NP_001099147.2																					ATTGTGATTTCTTTGAATCAA	0.373000													17	84					0	0	0.000566183	0	0
DNAH1	25981	broad.mit.edu	37	3	52429347	52429347	+	Silent	SNP	C	C	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:52429347C>T	ENST00000420323.2	+	69	11253	c.10992C>T	c.(10990-10992)ttC>ttT	p.F3664F		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3729					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)		CAGTGGTGTTCAAAGACTCCA	0.577000													5	11					0	0	0.00198382	0	0
BRDT	676	broad.mit.edu	37	1	92428378	92428378	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:92428378delA	ENST00000362005.3	+	3	485	c.67delA	c.(67-69)agfs	p.K24fs	BRDT_ENST00000370389.2_Intron|BRDT_ENST00000402388.1_Frame_Shift_Del_p.K24fs|BRDT_ENST00000399546.2_Frame_Shift_Del_p.K24fs|BRDT_ENST00000394530.3_Frame_Shift_Del_p.K24fs	NM_001242805.1	NP_001229734.1	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	24					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		TATAAATACTAAGAAAAATGG	0.368													23	95	---	---	---	---					
UBR3	130507	broad.mit.edu	37	2	170929938	170929940	+	Splice_Site	DEL	GAA	GAA	-			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:170929938_170929940delGAA	ENST00000272793.5	+	36	5070_5072	c.5019_splice	c.e36-1	p.E1677_splice	UBR3_ENST00000418381.1_Splice_Site_p.E1677_splice|UBR3_ENST00000392631.1_Splice_Site_p.E498_splice			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1677					sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						TGTCTAAAAGGAAGAAGAAGAAT	0.379													42	91	---	---	---	---					
MTMR14	64419	broad.mit.edu	37	3	9695378	9695383	+	In_Frame_Del	DEL	ATGGGG	ATGGGG	-			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:9695378_9695383delATGGGG	ENST00000296003.4	+	2	355_360	c.233_238delATGGGG	c.(232-240)aat>a	p.NGD78del	MTMR14_ENST00000353332.5_In_Frame_Del_p.NGD78del|MTMR14_ENST00000420925.1_Intron|MTMR14_ENST00000351233.5_In_Frame_Del_p.NGD78del	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN	myotubularin related protein 14	78						perinuclear region of cytoplasm|ruffle	phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21	Medulloblastoma(99;0.227)					CCAAACACGAATGGGGATATCTGTGG	0.500													18	89	---	---	---	---					
ANKRD32	84250	broad.mit.edu	37	5	94030940	94030941	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:94030940_94030941delGT	ENST00000265140.5	+	21	3519_3520	c.3100_3101delGT	c.(3100-3102)gfs	p.V1034fs	ANKRD32_ENST00000493934.1_Intron	NM_032290.3	NP_115666.2	Q9BQI6	ANR32_HUMAN	ankyrin repeat domain 32	1034										NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	13		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)		all cancers(79;3.88e-18)		GAATTTGAAAGTGTGTCCTGGG	0.411													13	51	---	---	---	---					
RAB9BP1	9366	broad.mit.edu	37	5	104435260	104435260	+	RNA	DEL	T	T	-			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:104435260delT	ENST00000522464.1	-	0	68				RP11-6N13.1_ENST00000503650.1_lincRNA																							AGATATGTAATTAATAAGTTT	0.353													8	15	---	---	---	---					
GPR37	2861	broad.mit.edu	37	7	124404490	124404490	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:124404490delA	ENST00000303921.2	-	1	1191	c.541delT	c.(541-543)acfs	p.Y181fs		NM_005302.2	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	181						endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CTTGGCCAGTAAAAAAGATCG	0.602													14	104	---	---	---	---					
TXNDC8	255220	broad.mit.edu	37	9	113065990	113065990	+	Splice_Site	DEL	T	T	-			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:113065990delT	ENST00000374510.4	-	6	333		c.e6-2		TXNDC8_ENST00000423740.2_Splice_Site|TXNDC8_ENST00000374511.3_Intron	NM_001003936.2	NP_001003936.1	Q6A555	TXND8_HUMAN	thioredoxin domain containing 8 (spermatozoa)						cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	Golgi apparatus	electron carrier activity|protein disulfide oxidoreductase activity			endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						TGCAAGACACTTTAAATATAA	0.274													11	10	---	---	---	---					
SLC34A3	142680	broad.mit.edu	37	9	140130595	140130596	+	Frame_Shift_Ins	INS	-	-	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:140130595_140130596insG	ENST00000538474.1	+	13	1751_1752	c.1527_1528insG	c.(1525-1530)gcggggfs	p.AG509fs	SLC34A3_ENST00000361134.2_Frame_Shift_Ins_p.AG509fs	NM_001177316.1|NM_001177317.1	NP_001170787.1|NP_001170788.1	Q8N130	NPT2C_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 3	509					cellular phosphate ion homeostasis	apical plasma membrane|integral to membrane	sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		TCTCCCTGGCAGGGGGCATGGA	0.718											OREG0019630	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	3	---	---	---	---					
SLC29A2	3177	broad.mit.edu	37	11	66131787	66131788	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:66131787_66131788delAG	ENST00000357440.2	-	11	1395_1396	c.1167_1168delCT	c.(1165-1170)cttcfs	p.LF389fs	SLC29A2_ENST00000546034.1_Frame_Shift_Del_p.LF389fs|SLC29A2_ENST00000544554.1_Frame_Shift_Del_p.LF389fs|RP11-867G23.8_ENST00000580881.1_Intron|SLC29A2_ENST00000311161.7_Frame_Shift_Del_p.L345fs	NM_001532.2	NP_001523.2	Q14542	S29A2_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 2	389					cell proliferation|nucleobase, nucleoside and nucleotide metabolic process	basolateral plasma membrane|integral to plasma membrane|nuclear membrane|nucleolus	nucleoside transmembrane transporter activity			breast(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10						TCCTGTGGGAAGAGGATGGGCA	0.634											OREG0021103	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	24	---	---	---	---					
USP2-AS1	100499227	broad.mit.edu	37	11	119274164	119274164	+	RNA	DEL	A	A	-			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:119274164delA	ENST00000498979.2	+	0	273				USP2-AS1_ENST00000500970.1_RNA|USP2-AS1_ENST00000578923.1_RNA|USP2-AS1_ENST00000577297.1_RNA|USP2-AS1_ENST00000530002.1_RNA	NR_034160.1																						ttttttttttATCTCATGCAG	0.348													2	4	---	---	---	---					
LINC00922	283867	broad.mit.edu	37	16	65397089	65397089	+	RNA	DEL	A	A	-			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:65397089delA	ENST00000569736.1	-	0	567				RP11-256I9.3_ENST00000562656.1_lincRNA	NR_027755.1																						AATGGTAATTAACCTTTTAAA	0.378													12	58	---	---	---	---					
B4GALT6	9331	broad.mit.edu	37	18	29225354	29225355	+	Frame_Shift_Ins	INS	-	-	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:29225354_29225355insC	ENST00000306851.5	-	4	730_731	c.434_435insG	c.(433-435)gcafs	p.A145fs	B4GALT6_ENST00000383131.3_Frame_Shift_Ins_p.A145fs|B4GALT6_ENST00000237019.7_Frame_Shift_Ins_p.A106fs	NM_004775.3	NP_004766.2	Q9UBX8	B4GT6_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 6	145					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(6)|pancreas(1)	20			OV - Ovarian serous cystadenocarcinoma(10;0.00791)			GCCTCCAATGACCCCCTGGCTC	0.376													11	98	---	---	---	---					
ADAM33	80332	broad.mit.edu	37	20	3662605	3662605	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:3662605delA	ENST00000356518.2	-	1	288	c.47delT	c.(46-48)cgfs	p.L22fs	ADAM33_ENST00000350009.2_Frame_Shift_Del_p.L22fs|ADAM33_ENST00000379861.4_Frame_Shift_Del_p.L22fs	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33	22					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						cagtagtagcagcagcagcaA	0.716													2	4	---	---	---	---					
OTOR	56914	broad.mit.edu	37	20	16730592	16730593	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:16730592_16730593insA	ENST00000246081.2	+	3	344_345	c.300_301insA	c.(298-303)ttccagfs	p.FQ100fs	OTOR_ENST00000486129.1_3'UTR	NM_020157.2	NP_064542.1	Q9NRC9	OTOR_HUMAN	otoraplin	100	SH3.				sensory perception of sound	extracellular region				breast(1)|central_nervous_system(1)|endometrium(1)|liver(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10						TGGGTTATTTCCCCAGGAACTT	0.490													6	10	---	---	---	---					
ZBP1	81030	broad.mit.edu	37	20	56186960	56186960	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:56186960delA	ENST00000340462.4	-	5	908	c.628delT	c.(628-630)cafs	p.S210fs	ZBP1_ENST00000343535.4_Frame_Shift_Del_p.S233fs|ZBP1_ENST00000371173.3_Frame_Shift_Del_p.S233fs|ZBP1_ENST00000395822.3_Frame_Shift_Del_p.S158fs			Q9H171	ZBP1_HUMAN	Z-DNA binding protein 1	233						cytoplasm|nucleus	double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding|RNA binding			large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			GGTGCCATTGAAGGGAGGTGG	0.612													2	4	---	---	---	---					
ARFGAP1	55738	broad.mit.edu	37	20	61912694	61912695	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:61912694_61912695insA	ENST00000370275.4	+	8	771_772	c.679_680insA	c.(679-681)gggfs	p.G227fs	ARFGAP1_ENST00000519273.2_Frame_Shift_Ins_p.G114fs|ARFGAP1_ENST00000353546.3_Frame_Shift_Ins_p.G227fs|ARFGAP1_ENST00000519604.1_Frame_Shift_Ins_p.G174fs|ARFGAP1_ENST00000547204.1_Frame_Shift_Ins_p.G153fs|ARFGAP1_ENST00000370283.4_Frame_Shift_Ins_p.G227fs			Q8N6T3	ARFG1_HUMAN	ADP-ribosylation factor GTPase activating protein 1	227					COPI coating of Golgi vesicle|protein transport|regulation of ARF GTPase activity|retrograde vesicle-mediated transport, Golgi to ER	cytosol|Golgi-associated vesicle membrane	ARF GTPase activator activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)	13	all_cancers(38;1.59e-09)					GGCAGCCAAGGAGGGCGTAAGT	0.658													4	7	---	---	---	---					
