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
SLC38A3	10991	broad.mit.edu	37	3	50256083	50256083	+	RNA	SNP	G	G	T			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr3:50256083G>T	ENST00000420502.1	+	0	1248							Q99624	S38A3_HUMAN	solute carrier family 38, member 3						cellular nitrogen compound metabolic process|sodium ion transport	integral to plasma membrane	antiporter activity|L-alanine transmembrane transporter activity|L-asparagine transmembrane transporter activity|L-glutamine transmembrane transporter activity|L-histidine transmembrane transporter activity|symporter activity	p.L365L(1)		breast(1)|cervix(1)|endometrium(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615)	L-Asparagine(DB00174)|L-Glutamine(DB00130)|L-Histidine(DB00117)	TTGACGTCCTGATCCTGTGTG	0.637000													10	50					1.76689e-08	2.09889e-08	0.058154	1	0
AUH	549	broad.mit.edu	37	9	94060310	94060310	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr9:94060310C>A	ENST00000375731.4	-	5	577	c.554G>T	c.(553-555)gGt>gTt	p.G185V	AUH_ENST00000478465.1_5'UTR|AUH_ENST00000303617.5_Missense_Mutation_p.G156V|AUH_ENST00000422391.2_Missense_Mutation_p.G185V	NM_001698.2	NP_001689.1	Q13825	AUHM_HUMAN	AU RNA binding protein/enoyl-CoA hydratase	185					branched chain family amino acid catabolic process|mRNA catabolic process	mitochondrial matrix	enoyl-CoA hydratase activity|methylglutaconyl-CoA hydratase activity|mRNA 3'-UTR binding	p.G185V(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	11						AAGACCACCACCTAAAGCGAG	0.348000													26	54					4.74835e-14	6.34816e-14	0.045705	1	0
PRG4	10216	broad.mit.edu	37	1	186278009	186278009	+	Missense_Mutation	SNP	G	G	T	rs149799261	by1000genomes	TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr1:186278009G>T	ENST00000445192.2	+	7	3203	c.3158G>T	c.(3157-3159)cGc>cTc	p.R1053L	PRG4_ENST00000367484.3_Missense_Mutation_p.R582L|PRG4_ENST00000367485.4_Missense_Mutation_p.R960L|PRG4_ENST00000367486.3_Missense_Mutation_p.R1010L|PRG4_ENST00000367483.4_Missense_Mutation_p.R1012L	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	1053					cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	p.R1053L(1)		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						CCAACTCCCCGCAAGATGACA	0.448000													30	120					3.80469e-20	5.6994e-20	0.041601	1	0
PDIA4	9601	broad.mit.edu	37	7	148709033	148709033	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr7:148709033T>A	ENST00000286091.4	-	6	1116	c.884A>T	c.(883-885)cAg>cTg	p.Q295L		NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	protein disulfide isomerase family A, member 4	295	Thioredoxin 2.				cell redox homeostasis|glycerol ether metabolic process|protein secretion	endoplasmic reticulum lumen|melanosome	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	p.Q295L(1)		large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			CTCCTGGACCTGCTTCAGGGT	0.572000													25	88					0	0	0.030593	0	0
SLC29A4	222962	broad.mit.edu	37	7	5327485	5327485	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr7:5327485G>T	ENST00000396872.2	+	2	199	c.38G>T	c.(37-39)aGc>aTc	p.S13I	SLC29A4_ENST00000406453.3_Missense_Mutation_p.S13I|SLC29A4_ENST00000297195.4_Missense_Mutation_p.S13I	NM_001040661.1|NM_153247.2	NP_001035751.1|NP_694979.2	Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4	13					nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity	p.S13I(1)		breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)		GAGGAGCCCAGCGTGGCAGGC	0.652000													14	37					4.7546e-09	5.77677e-09	0.028581	1	0
SLC18A3	6572	broad.mit.edu	37	10	50818982	50818982	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr10:50818982G>T	ENST00000374115.3	+	1	636	c.196G>T	c.(196-198)Ggg>Tgg	p.G66W	CHAT_ENST00000339797.1_Intron	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	66					neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity	p.G66L(1)		endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						CCACATGCGCGGGGGCGGCGA	0.672000													5	18					1.06961e-07	1.23519e-07	0.038147	1	0
ZNF536	9745	broad.mit.edu	37	19	30934586	30934586	+	Silent	SNP	C	C	A			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr19:30934586C>A	ENST00000355537.3	+	2	264	c.117C>A	c.(115-117)atC>atA	p.I39I		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	39					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.I39I(1)		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)					TGCACCAGATCACCTCCCAGC	0.657000													36	124					1.57019e-19	2.30584e-19	0.030466	1	0
GPR133	283383	broad.mit.edu	37	12	131590398	131590398	+	Silent	SNP	C	C	G			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr12:131590398C>G	ENST00000261654.5	+	17	2434	c.1875C>G	c.(1873-1875)ctC>ctG	p.L625L	GPR133_ENST00000535015.1_Silent_p.L657L|GPR133_ENST00000543617.1_Silent_p.L144L|GPR133_ENST00000376682.4_Silent_p.L311L	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	625					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.L625L(1)		NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		GTTTCCGCCTCGAGCCGGGCA	0.632000													8	16					0	0	0.008291	0	0
OLFML2B	25903	broad.mit.edu	37	1	161970075	161970075	+	Silent	SNP	G	G	T			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr1:161970075G>T	ENST00000294794.3	-	5	1200	c.777C>A	c.(775-777)atC>atA	p.I259I	OLFML2B_ENST00000367940.2_Silent_p.I260I	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	259								p.I259I(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			GCAGAAGTTCGATGGAGTTGA	0.617000													24	55					4.72057e-08	5.50242e-08	0.021523	1	0
NAP1L2	4674	broad.mit.edu	37	X	72434120	72434120	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chrX:72434120C>A	ENST00000373517.3	-	1	564	c.209G>T	c.(208-210)gGg>gTg	p.G70V	NAP1L2_ENST00000536638.1_Intron	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	70					nucleosome assembly	chromatin assembly complex		p.G70V(1)		NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					CCCATCTTCCCCGGACCCAGC	0.527000													49	32					6.31075e-24	9.76726e-24	0.048971	1	0
PCDHB7	56129	broad.mit.edu	37	5	140553013	140553013	+	Silent	SNP	G	G	T			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr5:140553013G>T	ENST00000231137.3	+	1	771	c.597G>T	c.(595-597)gtG>gtT	p.V199V		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		199	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.V199V(1)		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)			TGAATCAAGTGCTGGATCGGG	0.517000													19	70					8.10497e-08	9.41793e-08	0.055883	1	0
FOXO3	2309	broad.mit.edu	37	6	108985039	108985039	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr6:108985039G>A	ENST00000406360.1	+	2	1346	c.1003G>A	c.(1003-1005)Gaa>Aaa	p.E335K	FOXO3_ENST00000540898.1_Missense_Mutation_p.E115K|FOXO3_ENST00000343882.6_Missense_Mutation_p.E335K	NM_001455.3	NP_001446.1	O43524	FOXO3_HUMAN	forkhead box O3	335					antral ovarian follicle growth|apoptosis|embryo development|glucose homeostasis|induction of apoptosis|initiation of primordial ovarian follicle growth|insulin receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|oocyte maturation|ovulation from ovarian follicle|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase 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 factor binding	p.E335K(1)		central_nervous_system(5)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26		all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152)		Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718)		AGAGTTGGATGAAGTCCAGGA	0.592000													29	42					0	0	0.059317	0	0
APOB	338	broad.mit.edu	37	2	21230206	21230206	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr2:21230206C>G	ENST00000233242.1	-	26	9661	c.9534G>C	c.(9532-9534)aaG>aaC	p.K3178N		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	3178	Basic (possible receptor binding region).|Heparin-binding.				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	p.K3178N(1)		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)	GTTTGTTTTTCTTATACTGAG	0.358000													26	71					0	0	0.037714	0	0
MAN2C1	4123	broad.mit.edu	37	15	75652055	75652055	+	Silent	SNP	C	C	T			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr15:75652055C>T	ENST00000565683.1	-	16	1865	c.1854G>A	c.(1852-1854)gaG>gaA	p.E618E	MAN2C1_ENST00000569482.1_Silent_p.E618E|MAN2C1_ENST00000563622.1_Silent_p.E519E|MAN2C1_ENST00000267978.5_Silent_p.E618E	NM_001256494.1	NP_001243423.1	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	618					mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding	p.E618E(1)		central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						CAGGACCTGGCTCCCCAGCAC	0.627000													15	49					0	0	0.033300	0	0
KCNIP2	30819	broad.mit.edu	37	10	103587134	103587134	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr10:103587134C>A	ENST00000358038.3	-	9	1086	c.735G>T	c.(733-735)atG>atT	p.M245I	KCNIP2_ENST00000461105.1_Missense_Mutation_p.M278I|KCNIP2_ENST00000348850.5_Missense_Mutation_p.M218I|KCNIP2_ENST00000355657.2_5'UTR|KCNIP2_ENST00000356640.2_Missense_Mutation_p.M263I|KCNIP2-AS1_ENST00000412353.1_RNA|KCNIP2_ENST00000343195.4_Missense_Mutation_p.M213I|KCNIP2_ENST00000370046.1_Missense_Mutation_p.M177I|KCNIP2_ENST00000353068.3_Missense_Mutation_p.M220I	NM_173192.2|NM_173193.2|NM_173195.2	NP_775284.1|NP_775285.1|NP_775287.1	Q9NS61	KCIP2_HUMAN	Kv channel interacting protein 2	263	EF-hand 4.				clustering of voltage-gated potassium channels|detection of calcium ion|muscle contraction|regulation of heart contraction|signal transduction|synaptic transmission	cytoplasm|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|calcium ion binding|ER retention sequence binding|identical protein binding|protein N-terminus binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11		Colorectal(252;0.122)		Epithelial(162;4.93e-09)|all cancers(201;2.63e-07)		CAAAGAGCTGCATGGACCTCA	0.537000													5	415					0.00116845	0.00123815	0.021553	1	0
GK2	2712	broad.mit.edu	37	4	80328679	80328679	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr4:80328679G>A	ENST00000358842.3	-	1	693	c.676C>T	c.(676-678)Cca>Tca	p.P226S		NM_033214.2	NP_149991.2	Q14410	GLPK2_HUMAN	glycerol kinase 2	226					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity	p.P226S(1)		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						AGGTCCATTGGAATTTCAAAA	0.408000													5	133					0	0	0.021553	0	0
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	A	rs121913530		TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr12:25398285C>A	ENST00000311936.3	-	2	225	c.34G>T	c.(34-36)Ggt>Tgt	p.G12C	KRAS_ENST00000556131.1_Missense_Mutation_p.G12C|KRAS_ENST00000256078.4_Missense_Mutation_p.G12C|KRAS_ENST00000557334.1_Missense_Mutation_p.G12C	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348000	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			4	8					0.00307968	0.00324497	0.038147	1	0
SHROOM2	357	broad.mit.edu	37	X	9862711	9862711	+	Missense_Mutation	SNP	G	G	T	rs111899727	byFrequency	TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chrX:9862711G>T	ENST00000380913.3	+	4	853	c.763G>T	c.(763-765)Gca>Tca	p.A255S		NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	255					apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity	p.A255S(1)		breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				GGCCCAGGCCGCAGGCGACCC	0.672000													20	10					5.26018e-13	6.8603e-13	0.062417	1	0
RP11-478B9.1	0	broad.mit.edu	37	12	45458055	45458055	+	RNA	SNP	G	G	T			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr12:45458055G>T	ENST00000548424.1	+	0	448																											AACAATGCGGGGGATCATTGG	0.493000													25	34					9.86323e-18	1.39885e-17	0.021523	1	0
HECTD4	283450	broad.mit.edu	37	12	112654685	112654685	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr12:112654685C>A	ENST00000550722.1	-	47	7234	c.6839G>T	c.(6838-6840)gGa>gTa	p.G2280V	HECTD4_ENST00000430131.2_Missense_Mutation_p.G2004V|HECTD4_ENST00000377560.5_Missense_Mutation_p.G2254V	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4									p.G2254V(1)|p.G2004V(1)									ATCGGTGTCTCCATAGGAAAC	0.507000													28	121					8.58068e-18	1.2216e-17	0.034045	1	0
LMBR1	64327	broad.mit.edu	37	7	156518480	156518480	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr7:156518480C>G	ENST00000353442.4	-	13	1281	c.1045G>C	c.(1045-1047)Gcg>Ccg	p.A349P	LMBR1_ENST00000540390.1_Missense_Mutation_p.A328P|LMBR1_ENST00000461603.1_5'UTR|LMBR1_ENST00000354505.4_Missense_Mutation_p.A390P|LMBR1_ENST00000359422.4_Missense_Mutation_p.A197P	NM_022458.3	NP_071903.2	Q8WVP7	LMBR1_HUMAN	limb development membrane protein 1	349				A -> V (in Ref. 1; AAK94061).		integral to membrane	receptor activity	p.A349P(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	18	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.208)		ATTTCAAGCGCAGCTCCCACA	0.388000													10	44					0	0	0.008291	0	0
SV2C	22987	broad.mit.edu	37	5	75505590	75505590	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr5:75505590C>A	ENST00000502798.2	+	4	1233	c.791C>A	c.(790-792)tCg>tAg	p.S264*	SV2C_ENST00000322285.7_Nonsense_Mutation_p.S264*	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	264					neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	p.S264*(1)		NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		ACTGTGTTCTCGTACTTTGCT	0.557000													22	62					1.36615e-20	2.05473e-20	0.054565	1	0
CRHR1	1394	broad.mit.edu	37	17	43907550	43907550	+	Translation_Start_Site	SNP	C	C	A			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr17:43907550C>A	ENST00000293493.7	+	0	888				CRHR1_ENST00000339069.5_Silent_p.T74T|CRHR1_ENST00000577353.1_Silent_p.T175T|CRHR1_ENST00000352855.5_Silent_p.T135T|CRHR1_ENST00000398285.3_Silent_p.T204T|CRHR1_ENST00000314537.5_Silent_p.T175T	NM_001256299.1	NP_001243228.1	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1						female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding	p.T175T(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		TCCAGCTAACCATGAGCCCCG	0.647000													35	72					1.99505e-19	2.91825e-19	0.050027	1	0
SH3KBP1	30011	broad.mit.edu	37	X	19650023	19650023	+	Silent	SNP	A	A	G			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chrX:19650023A>G	ENST00000397821.3	-	8	1146	c.856T>C	c.(856-858)Ttg>Ctg	p.L286L	SH3KBP1_ENST00000379698.4_Silent_p.L249L|SH3KBP1_ENST00000379716.1_Silent_p.L48L|SH3KBP1_ENST00000379697.3_Silent_p.L330L|SH3KBP1_ENST00000477102.1_5'UTR|SH3KBP1_ENST00000541422.1_Silent_p.L25L	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	286	SH3 3.				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	p.L286L(1)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						TTGATTGTCAATTCATCATCA	0.353000													40	29					0	0	0.042209	0	0
ARHGAP6	395	broad.mit.edu	37	X	11162223	11162223	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chrX:11162223G>T	ENST00000337414.4	-	11	2925	c.2053C>A	c.(2053-2055)Caa>Aaa	p.Q685K	ARHGAP6_ENST00000380736.1_Missense_Mutation_p.Q482K|ARHGAP6_ENST00000303025.6_Missense_Mutation_p.Q482K|ARHGAP6_ENST00000380718.1_Missense_Mutation_p.Q685K|ARHGAP6_ENST00000413512.3_3'UTR|ARHGAP6_ENST00000534860.1_Missense_Mutation_p.Q510K	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	685					actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity	p.Q685K(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						GCGTCCTCTTGCATAGCCAGC	0.577000											OREG0019666	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	48	58					1.81118e-26	2.87477e-26	0.048971	1	0
FASTKD2	22868	broad.mit.edu	37	2	207631989	207631989	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr2:207631989T>C	ENST00000236980.6	+	2	920	c.572T>C	c.(571-573)aTt>aCt	p.I191T	FASTKD2_ENST00000403094.3_Missense_Mutation_p.I191T|FASTKD2_ENST00000402774.3_Missense_Mutation_p.I191T	NM_014929.3	NP_055744.2	Q9NYY8	FAKD2_HUMAN	FAST kinase domains 2	191					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	p.I191T(1)		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)		ATGTGGACAATTGCCAAAAGA	0.418000													63	152					0	0	0.048971	0	0
KCNK10	54207	broad.mit.edu	37	14	88729728	88729728	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr14:88729728A>G	ENST00000340700.5	-	2	656	c.205T>C	c.(205-207)Tgg>Cgg	p.W69R	KCNK10_ENST00000319231.5_Missense_Mutation_p.W74R|KCNK10_ENST00000312350.5_Missense_Mutation_p.W74R	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	69					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity	p.W74R(2)|p.W69R(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						ACCGTCTTCCACTTCATGACG	0.592000													20	88					0	0	0.014323	0	0
GPBP1	65056	broad.mit.edu	37	5	56527069	56527069	+	Translation_Start_Site	SNP	A	A	T			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr5:56527069A>T	ENST00000514387.2	+	0	1385				GPBP1_ENST00000424459.3_Missense_Mutation_p.H111L|GPBP1_ENST00000506184.2_Missense_Mutation_p.H111L|GPBP1_ENST00000264779.6_Missense_Mutation_p.H118L|GPBP1_ENST00000538707.1_Missense_Mutation_p.H118L|GPBP1_ENST00000511209.1_Missense_Mutation_p.H118L|GPBP1_ENST00000454432.2_Missense_Mutation_p.H111L	NM_001203246.1	NP_001190175.1	Q86WP2	GPBP1_HUMAN	GC-rich promoter binding protein 1						regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	p.H111L(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	19		Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222)		OV - Ovarian serous cystadenocarcinoma(10;7.64e-39)		CAAGGACTACATGAAAACAAC	0.393000													22	64					0	0	0.030593	0	0
PRDM14	63978	broad.mit.edu	37	8	70982089	70982089	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr8:70982089G>T	ENST00000276594.2	-	2	208	c.7C>A	c.(7-9)Cta>Ata	p.L3I		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	3					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L3I(1)		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)			GGCCGGGGTAGAGCCATCCCG	0.711000													6	10					0.00198382	0.00209622	0.029380	1	0
COL5A1	1289	broad.mit.edu	37	9	137704349	137704349	+	Splice_Site	SNP	G	G	C			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr9:137704349G>C	ENST00000371817.3	+	47	4158		c.e47+1			NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1						axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	p.?(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GGGCCAGATGGTAAGTGTGCC	0.537000													26	37					0	0	0.045705	0	0
PTPDC1	138639	broad.mit.edu	37	9	96860223	96860223	+	Silent	SNP	C	C	T			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr9:96860223C>T	ENST00000375360.3	+	7	1553	c.1213C>T	c.(1213-1215)Ctg>Ttg	p.L405L	PTPDC1_ENST00000288976.3_Silent_p.L457L	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	405							protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.L405L(1)|p.L457L(1)		endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						CGAGAACCTCCTGGAGCAAGG	0.532000													20	40					0	0	0.016522	0	0
COL22A1	169044	broad.mit.edu	37	8	139890410	139890410	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr8:139890410G>A	ENST00000303045.6	-	3	687	c.241C>T	c.(241-243)Cgc>Tgc	p.R81C	COL22A1_ENST00000435777.1_Missense_Mutation_p.R81C	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	81	VWFA.				cell adhesion	collagen|cytoplasm	structural molecule activity	p.R81C(1)		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)			TCGCTGTAGCGCACGACCCCC	0.687000										HNSCC(7;0.00092)			6	12					0	0	0.029380	0	0
ZP4	57829	broad.mit.edu	37	1	238048738	238048738	+	Silent	SNP	G	G	T			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr1:238048738G>T	ENST00000366570.4	-	8	1271	c.1113C>A	c.(1111-1113)ccC>ccA	p.P371P	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	371	ZP.				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity	p.P371P(1)		breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			GGTCAGTGCTGGGTGTTGCCC	0.537000													20	88					4.26978e-12	5.47294e-12	0.018920	1	0
VIL1	7429	broad.mit.edu	37	2	219295487	219295487	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr2:219295487G>T	ENST00000248444.5	+	10	1076	c.988G>T	c.(988-990)Gtg>Ttg	p.V330L	VIL1_ENST00000392114.2_Missense_Mutation_p.V19L|VIL1_ENST00000440053.1_Missense_Mutation_p.V330L	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	330	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity	p.V330L(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AAGCACACAGGTGGAGGTGCA	0.567000													27	109					4.74835e-14	6.34816e-14	0.045705	1	0
ITGAX	3687	broad.mit.edu	37	16	31374568	31374568	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr16:31374568T>A	ENST00000268296.4	+	14	1704	c.1583T>A	c.(1582-1584)cTg>cAg	p.L528Q	ITGAX_ENST00000562522.1_Missense_Mutation_p.L528Q	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	528					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	p.L528Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CTGACAGTGCTGGGGGATGTG	0.602000													62	203					0	0	0.048971	0	0
RIPK4	54101	broad.mit.edu	37	21	43161537	43161537	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr21:43161537T>C	ENST00000352483.2	-	9	2024	c.1960A>G	c.(1960-1962)Acg>Gcg	p.T654A	RIPK4_ENST00000332512.3_Missense_Mutation_p.T606A|RIPK4_ENST00000544709.1_Missense_Mutation_p.T543A|RIPK4_ENST00000542057.1_Missense_Mutation_p.T543A			Q96T11	Q96T11_HUMAN	receptor-interacting serine-threonine kinase 4	606						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	p.T606A(1)|p.T654A(1)		NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TGCAATGGCGTCCTCCCATCC	0.677000													41	125					0	0	0.042209	0	0
OTOF	9381	broad.mit.edu	37	2	26691312	26691312	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr2:26691312C>A	ENST00000272371.2	-	33	4180	c.4054G>T	c.(4054-4056)Gac>Tac	p.D1352Y	OTOF_ENST00000402415.3_Missense_Mutation_p.D662Y|OTOF_ENST00000339598.3_Missense_Mutation_p.D585Y|OTOF_ENST00000338581.6_Missense_Mutation_p.D585Y|OTOF_ENST00000403946.3_Missense_Mutation_p.D1352Y	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1352					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	p.D1352Y(1)|p.D585Y(1)|p.D662Y(1)		NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCTCCAAGTCAATTCCAGAG	0.557000													40	110					3.77016e-25	5.90869e-25	0.045515	1	0
OR11H12	440153	broad.mit.edu	37	14	19378076	19378076	+	Silent	SNP	A	A	C			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr14:19378076A>C	ENST00000550708.1	+	1	555	c.483A>C	c.(481-483)atA>atC	p.I161I		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	161					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I161I(1)		NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AACTGGTCATACTGTGCTGGG	0.473000													6	336					0	0	0.020292	0	0
ARHGAP6	395	broad.mit.edu	37	X	11308583	11308583	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chrX:11308583G>A	ENST00000380732.3	-	2	603	c.604C>T	c.(604-606)Ctt>Ttt	p.L202F	ARHGAP6_ENST00000337414.4_Intron|ARHGAP6_ENST00000380736.1_Intron|ARHGAP6_ENST00000380718.1_Intron|ARHGAP6_ENST00000413512.3_Intron			O43182	RHG06_HUMAN	Rho GTPase activating protein 6	196					actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						AAGATCTGAAGATCATACAAC	0.358000													20	20					0	0	0.062417	0	0
MUC16	94025	broad.mit.edu	37	19	9077163	9077163	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr19:9077163G>T	ENST00000397910.4	-	3	10486	c.10283C>A	c.(10282-10284)tCt>tAt	p.S3428Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3429	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.S3428Y(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						ATCTGACCAAGAACTAGTTGA	0.458000													79	122					3.71121e-27	5.94112e-27	0.048971	1	0
GCKR	2646	broad.mit.edu	37	2	27731039	27731039	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr2:27731039C>A	ENST00000264717.2	+	16	1406	c.1343C>A	c.(1342-1344)cCt>cAt	p.P448H	GCKR_ENST00000424318.2_Missense_Mutation_p.P258H	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN	glucokinase (hexokinase 4) regulator	448	SIS 2.				carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding	p.P448N(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					CTCCAGATCCCTCTGAAGAAG	0.532000													20	81					2.94398e-08	3.44234e-08	0.043863	1	0
MSLNL	401827	broad.mit.edu	37	16	823017	823017	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr16:823017T>G	ENST00000293892.3	-	11	2167	c.2168A>C	c.(2167-2169)cAg>cCg	p.Q723P	MSLNL_ENST00000442466.1_Missense_Mutation_p.Q372P			Q96KJ4	MSLNL_HUMAN	mesothelin-like	372					cell adhesion	integral to membrane		p.Q723P(1)		breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						GAGCCGCAGCTGATCCTCCGG	0.672000													14	149					0	0	0.055883	0	0
GPT2	84706	broad.mit.edu	37	16	46962902	46962902	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr16:46962902A>G	ENST00000440783.2	+	12	1930	c.1265A>G	c.(1264-1266)tAc>tGc	p.Y422C	GPT2_ENST00000340124.4_Missense_Mutation_p.Y522C	NM_001142466.1	NP_001135938.1	Q8TD30	ALAT2_HUMAN	glutamic pyruvate transaminase (alanine aminotransferase) 2	522					2-oxoglutarate metabolic process|cellular amino acid biosynthetic process|L-alanine metabolic process	mitochondrial matrix	L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	p.Y522C(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522)			L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	CTGGAGAAGTACGCGTGAGGA	0.597000													15	43					0	0	0.028581	0	0
GABRA1	2554	broad.mit.edu	37	5	161324188	161324188	+	Silent	SNP	T	T	C			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr5:161324188T>C	ENST00000428797.2	+	11	1486	c.1131T>C	c.(1129-1131)ccT>ccC	p.P377P	GABRA1_ENST00000023897.6_Silent_p.P377P|GABRA1_ENST00000437025.2_Silent_p.P377P|GABRA1_ENST00000393943.4_Silent_p.P377P|GABRA1_ENST00000444819.1_Silent_p.P377P|GABRA1_ENST00000420560.1_Silent_p.P377P	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	377					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.P377P(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	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)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	GCTACACCCCTAATTTGGCCA	0.453000													34	108					0	0	0.050027	0	0
SPEF2	79925	broad.mit.edu	37	5	35700681	35700681	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr5:35700681C>T	ENST00000440995.2	+	16	2210	c.2210C>T	c.(2209-2211)aCa>aTa	p.T737I	SPEF2_ENST00000356031.3_Missense_Mutation_p.T742I|CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000509059.1_Missense_Mutation_p.T737I			Q9C093	SPEF2_HUMAN	sperm flagellar 2	742					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	p.T742I(1)		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)			GAAGCTCTTACAGGCTGCAAT	0.403000													25	72					0	0	0.027356	0	0
KIF1B	23095	broad.mit.edu	37	1	10407885	10407885	+	Splice_Site	SNP	G	G	A			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr1:10407885G>A	ENST00000377086.1	+	36	4066	c.3864_splice	c.e36+1	p.Q1288_splice	KIF1B_ENST00000377081.1_Splice_Site_p.Q1288_splice|KIF1B_ENST00000465635.1_3'UTR|KIF1B_ENST00000263934.6_Splice_Site_p.Q1242_splice			O60333	KIF1B_HUMAN	kinesin family member 1B	1288					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding	p.?(1)		breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		TGCTTCATCAGGTACTAATGA	0.398000													20	62					0	0	0.055883	0	0
ZNF479	90827	broad.mit.edu	37	7	57188666	57188666	+	Silent	SNP	G	G	T			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr7:57188666G>T	ENST00000331162.4	-	5	726	c.456C>A	c.(454-456)acC>acA	p.T152T		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	152					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T152T(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TTTTGTTTTGGGTAGTTGACA	0.299000													11	55					0.0242445	0.02519	0.024245	1	0
MYO9A	4649	broad.mit.edu	37	15	72146723	72146723	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr15:72146723T>C	ENST00000356056.5	-	35	6813	c.6341A>G	c.(6340-6342)gAt>gGt	p.D2114G	MYO9A_ENST00000424560.1_Missense_Mutation_p.D2185G|MYO9A_ENST00000444904.1_Missense_Mutation_p.D2095G|MYO9A_ENST00000564571.1_Missense_Mutation_p.D2114G	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	2114	Rho-GAP.|Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity	p.D2114G(1)		NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CTTACCTGTATCTAGACCCTG	0.333000													55	152					0	0	0.048971	0	0
KANK4	163782	broad.mit.edu	37	1	62740193	62740193	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr1:62740193C>A	ENST00000371153.4	-	3	961	c.583G>T	c.(583-585)Ggt>Tgt	p.G195C	KANK4_ENST00000354381.3_Intron	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	195	Pro-rich.							p.G195C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						CTGCCTTCACCCTGAAGGGGA	0.627000													15	49					5.3912e-06	5.96712e-06	0.038395	1	0
MAP3K12	7786	broad.mit.edu	37	12	53875772	53875772	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr12:53875772C>T	ENST00000267079.2	-	14	2659	c.2434G>A	c.(2434-2436)Gaa>Aaa	p.E812K	MAP3K12_ENST00000547488.1_Missense_Mutation_p.E845K|MAP3K12_ENST00000547035.1_Missense_Mutation_p.E845K	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	812					histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	p.E845K(1)|p.E812K(1)		NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						GAGCTGGGTTCAGGGCCAGGG	0.562000											OREG0021873	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	71	114					0	0	0.048971	0	0
MYO15A	51168	broad.mit.edu	37	17	18058480	18058480	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr17:18058480G>A	ENST00000205890.5	+	46	8619	c.8281G>A	c.(8281-8283)Gtg>Atg	p.V2761M	MYO15A_ENST00000585180.1_Missense_Mutation_p.V25M|MYO15A_ENST00000418233.3_Missense_Mutation_p.V25M	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2761	Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	p.V2761M(1)		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)					GAAGCGGGCCGTGGTCAGCAC	0.632000													17	36					0	0	0.016522	0	0
CBX3	11335	broad.mit.edu	37	7	26248069	26248069	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr7:26248069C>T	ENST00000337620.4	+	4	652	c.224C>T	c.(223-225)gCg>gTg	p.A75V	CBX3_ENST00000409747.1_Intron|CBX3_ENST00000396386.2_Missense_Mutation_p.A75V|CBX3_ENST00000497498.1_3'UTR	NM_007276.4	NP_009207.2	Q13185	CBX3_HUMAN	chromobox homolog 3	75	Chromo 1.				chromatin remodeling|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed chromosome, centromeric region|nuclear centromeric heterochromatin|nuclear euchromatin|nuclear inner membrane|spindle	enzyme binding|protein domain specific binding	p.A75V(1)		endometrium(4)|large_intestine(2)|lung(2)|ovary(1)	9						TTGATTGAAGCGTTTCTTAAC	0.308000													19	77					0	0	0.038395	0	0
PGAP2	27315	broad.mit.edu	37	11	3845193	3845193	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr11:3845193C>T	ENST00000396993.4	+	3	184	c.106C>T	c.(106-108)Cct>Tct	p.P36S	PGAP2_ENST00000300730.6_Silent_p.G139G|PGAP2_ENST00000496834.2_5'UTR|PGAP2_ENST00000493547.2_Silent_p.G82G|PGAP2_ENST00000278243.4_Silent_p.G143G|PGAP2_ENST00000532017.1_3'UTR|PGAP2_ENST00000479072.1_5'UTR|PGAP2_ENST00000396986.2_Silent_p.G139G|PGAP2_ENST00000396991.2_Silent_p.G143G|PGAP2_ENST00000465307.2_Missense_Mutation_p.P86S|PGAP2_ENST00000463452.2_Silent_p.G82G			Q9UHJ9	PGAP2_HUMAN	post-GPI attachment to proteins 2	267					GPI anchor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	protein transporter activity	p.G143G(1)|p.G139G(1)		NS(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1)	11						TCTGCATCGGCCTGCACTCGG	0.642000													17	129					0	0	0.038395	0	0
MS4A2	2206	broad.mit.edu	37	11	59857910	59857910	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr11:59857910T>G	ENST00000278888.3	+	3	390	c.288T>G	c.(286-288)ttT>ttG	p.F96L		NM_000139.4	NP_000130.1	Q01362	FCERB_HUMAN	membrane-spanning 4-domains, subfamily A, member 2	96					cell proliferation|humoral immune response	integral to plasma membrane	calcium channel activity	p.F96L(1)		endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)	17		all_epithelial(135;0.245)			Omalizumab(DB00043)	TTTCATCATTTAAAGCAGGTT	0.338000													27	74					0	0	0.034045	0	0
SVOP	55530	broad.mit.edu	37	12	109332689	109332689	+	Silent	SNP	G	G	T			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr12:109332689G>T	ENST00000299134.5	-	7	614	c.615C>A	c.(613-615)acC>acA	p.T205T		NM_018711.2	NP_061181.1	Q8N4V2	SVOP_HUMAN	SV2 related protein homolog (rat)	0						cell junction|integral to membrane|synaptic vesicle membrane	ion transmembrane transporter activity	p.N205K(2)		breast(2)|lung(4)	6						GCCTTTTCCTGGTTCCCTGAC	0.557000													128	139					4.09656e-53	7.00926e-53	0.048971	1	0
SSUH2	51066	broad.mit.edu	37	3	8667996	8667996	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr3:8667996C>A	ENST00000317371.4	-	16	1845	c.620G>T	c.(619-621)tGc>tTc	p.C207F	SSUH2_ENST00000544814.1_Missense_Mutation_p.C229F|SSUH2_ENST00000415132.1_Missense_Mutation_p.C207F|SSUH2_ENST00000341795.3_Missense_Mutation_p.C207F					ssu-2 homolog (C. elegans)									p.C207F(1)									TCTCCCTGAGCAAGTGCTGCA	0.572000													54	131					6.81593e-30	1.11019e-29	0.048971	1	0
PCDHGA4	56111	broad.mit.edu	37	5	140736243	140736243	+	Silent	SNP	C	C	A			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr5:140736243C>A	ENST00000571252.1	+	1	1476	c.1476C>A	c.(1474-1476)gcC>gcA	p.A492A	PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_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)			ACTCCCTGGCCGAAGACACCT	0.493000													54	185					3.07002e-29	4.95721e-29	0.048971	1	0
HTATSF1	27336	broad.mit.edu	37	X	135592243	135592243	+	Silent	SNP	G	G	A			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chrX:135592243G>A	ENST00000535601.1	+	9	1349	c.927G>A	c.(925-927)agG>agA	p.R309R	HTATSF1_ENST00000218364.4_Silent_p.R309R	NM_001163280.1	NP_001156752.1	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	309	RRM 2.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	nucleotide binding|protein binding|RNA binding	p.R309R(1)		NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					CTTTCTAGAGGCACCCAGATG	0.388000													15	91					0	0	0.043863	0	0
SPTBN4	57731	broad.mit.edu	37	19	41081361	41081361	+	Silent	SNP	G	G	A			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr19:41081361G>A	ENST00000352632.3	+	36	7667	c.7581G>A	c.(7579-7581)gcG>gcA	p.A2527A	SPTBN4_ENST00000593816.1_3'UTR|SPTBN4_ENST00000392025.1_Silent_p.A1270A|SPTBN4_ENST00000598249.1_Silent_p.A2527A			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	2527	PH.				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.A2527A(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)			CCTCGGTGGCGGAACACGCAG	0.592000													8	14					0	0	0.008291	0	0
SLC6A9	6536	broad.mit.edu	37	1	44474186	44474186	+	Silent	SNP	G	G	C			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr1:44474186G>C	ENST00000372310.3	-	5	594	c.429C>G	c.(427-429)ccC>ccG	p.P143P	SLC6A9_ENST00000372306.3_Silent_p.P143P|SLC6A9_ENST00000372307.3_Silent_p.P78P|SLC6A9_ENST00000492434.2_Intron|SLC6A9_ENST00000357730.2_Silent_p.P162P|SLC6A9_ENST00000537678.1_Silent_p.P78P|SLC6A9_ENST00000475075.2_Silent_p.P32P|SLC6A9_ENST00000360584.2_Silent_p.P216P	NM_001024845.2	NP_001020016.1	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	216						integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	p.P216P(1)|p.P143P(1)		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)	AGTAGGCCCAGGGCAGCACGT	0.572000													31	110					0	0	0.054565	0	0
SLC6A1	6529	broad.mit.edu	37	3	11060301	11060301	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr3:11060301G>C	ENST00000287766.4	+	5	809	c.388G>C	c.(388-390)Gct>Cct	p.A130P	SLC6A1_ENST00000536032.1_5'UTR|SLC6A1-AS1_ENST00000414969.2_RNA	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	130					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	p.A130P(1)		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)	CCTTGCGGCTGCTGTGCTATC	0.502000													13	28					0	0	0.021523	0	0
TTN	7273	broad.mit.edu	37	2	179421984	179421984	+	Silent	SNP	A	A	T			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr2:179421984A>T	ENST00000589042.1	-	329	88229	c.88005T>A	c.(88003-88005)gcT>gcA	p.A29335A	TTN_ENST00000342175.6_Silent_p.A20462A|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.A27694A|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Silent_p.A20270A|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Silent_p.A20395A|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.A26767A	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	27694	Ig-like 134.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.A20462A(1)|p.A20395A(1)|p.A20270A(1)|p.A26767A(1)|p.A26765A(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)			ACGTACCACAAGCATCAATTG	0.413000													15	35					0	0	0.028581	0	0
MYL10	93408	broad.mit.edu	37	7	101267507	101267507	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr7:101267507G>T	ENST00000223167.4	-	2	293	c.116C>A	c.(115-117)gCc>gAc	p.A39D		NM_138403.4	NP_612412.2	Q9BUA6	MYL10_HUMAN	myosin, light chain 10, regulatory	39						mitochondrion	calcium ion binding	p.A39D(1)		breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	12						GTTGGAGCTGGCGGTGCCTTC	0.587000													35	82					1.32136e-16	1.84594e-16	0.033182	1	0
RNF216	54476	broad.mit.edu	37	7	5800722	5800722	+	Translation_Start_Site	SNP	T	T	C			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr7:5800722T>C	ENST00000425013.2	-	0	203				RNF216_ENST00000389902.3_De_novo_Start_InFrame	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216						apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding		FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		GACATGCATATATGGGACTGC	0.383000													21	61					0	0	0.014323	0	0
ANK1	286	broad.mit.edu	37	8	41554022	41554022	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr8:41554022G>T	ENST00000396942.1	-	26	2902	c.2819C>A	c.(2818-2820)cCa>cAa	p.P940Q	ANK1_ENST00000347528.4_Missense_Mutation_p.P940Q|ANK1_ENST00000379758.2_Missense_Mutation_p.P940Q|ANK1_ENST00000396945.1_Missense_Mutation_p.P940Q|ANK1_ENST00000289734.7_Missense_Mutation_p.P940Q|ANK1_ENST00000352337.4_Missense_Mutation_p.P940Q|ANK1_ENST00000265709.8_Missense_Mutation_p.P981Q			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	940	ZU5.				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	p.P981Q(1)|p.P940Q(1)		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)			GCACGTCCGTGGCGGGATCAC	0.677000													25	50					8.58068e-18	1.2216e-17	0.034045	1	0
PNLIPRP1	5407	broad.mit.edu	37	10	118355764	118355764	+	Silent	SNP	T	T	A			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr10:118355764T>A	ENST00000528052.1	+	6	575	c.504T>A	c.(502-504)atT>atA	p.I168I	PNLIPRP1_ENST00000358834.4_Silent_p.I168I|PNLIPRP1_ENST00000534537.1_Silent_p.I168I			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	168					lipid metabolic process		calcium ion binding|triglyceride lipase activity	p.I168I(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		TTCACCTCATTGGCCACAGCC	0.532000													219	280					0	0	0.048971	0	0
TMEM132D	121256	broad.mit.edu	37	12	129559341	129559341	+	Silent	SNP	G	G	T			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr12:129559341G>T	ENST00000422113.2	-	9	2705	c.2379C>A	c.(2377-2379)atC>atA	p.I793I	TMEM132D_ENST00000389441.4_Silent_p.I331I	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	793						integral to membrane		p.I793I(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)		ATTTAACTTTGATGTTTGCCG	0.483000													94	144					2.68873e-43	4.53799e-43	0.048971	1	0
TNRC6A	27327	broad.mit.edu	37	16	24802953	24802953	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr16:24802953G>T	ENST00000395799.3	+	6	3119	c.2990G>T	c.(2989-2991)cGc>cTc	p.R997L	TNRC6A_ENST00000315183.7_Missense_Mutation_p.R997L	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	997	Sufficient for interaction with EIF2C1 and EIF2C4.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding	p.R997L(1)		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)		TCTATACGTCGCAAAATGGAG	0.483000													13	73					2.31682e-05	2.51946e-05	0.024245	1	0
ADAMTS5	11096	broad.mit.edu	37	21	28296423	28296423	+	Silent	SNP	A	A	T			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr21:28296423A>T	ENST00000284987.5	-	8	2863	c.2742T>A	c.(2740-2742)ccT>ccA	p.P914P	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	914	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding	p.P914P(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						TTTGGGAGAGAGGACATCCTT	0.507000													15	53					0	0	0.024245	0	0
SYDE2	84144	broad.mit.edu	37	1	85648290	85648290	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr1:85648290A>G	ENST00000341460.5	-	3	2084	c.2035T>C	c.(2035-2037)Tct>Cct	p.S679P		NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2 (C. elegans)	679					activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity	p.S601P(1)|p.S679P(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		ATGAGCCCAGATATGTACTGT	0.343000													18	25					0	0	0.049695	0	0
DUOX2	50506	broad.mit.edu	37	15	45391598	45391598	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr15:45391598G>T	ENST00000389039.6	-	26	3883	c.3498C>A	c.(3496-3498)aaC>aaA	p.N1166K	DUOX2_ENST00000603300.1_Missense_Mutation_p.N1166K			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	1166	Ferric oxidoreductase.|Interaction with TXNDC11 (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity	p.N1166K(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		TCACAAAGACGTTGGGGAATA	0.532000													16	39					4.75885e-15	6.47829e-15	0.033300	1	0
FRG2B	441581	broad.mit.edu	37	10	135438905	135438905	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr10:135438905C>G	ENST00000443774.1	-	4	587	c.538G>C	c.(538-540)Gtg>Ctg	p.V180L	FRG2B_ENST00000425520.1_Missense_Mutation_p.V179L			Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	179						nucleus		p.V180L(1)		endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		ATAGCTCGCACAGAGGTCACC	0.562000													7	344					0	0	0.062417	0	0
TNS4	84951	broad.mit.edu	37	17	38636951	38636951	+	Splice_Site	SNP	C	C	A			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr17:38636951C>A	ENST00000254051.6	-	9	1900		c.e9+1			NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4						apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding	p.?(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			GTACCACTCACCCGCAGATTT	0.622000													10	60					1.3612e-06	1.53857e-06	0.024245	1	0
CHL1	10752	broad.mit.edu	37	3	424293	424293	+	Silent	SNP	G	G	T			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr3:424293G>T	ENST00000256509.2	+	18	2757	c.2115G>T	c.(2113-2115)gtG>gtT	p.V705V	CHL1-AS1_ENST00000417612.1_RNA|CHL1_ENST00000397491.2_Silent_p.V689V	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	689					axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		p.V705V(1)		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)		TCATAGCCGTGAACGAAGTAG	0.473000													10	41					7.03913e-09	8.49707e-09	0.013537	1	0
PCDHA12	56137	broad.mit.edu	37	5	140255747	140255747	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr5:140255747A>G	ENST00000398631.2	+	1	690	c.690A>G	c.(688-690)atA>atG	p.I230M	PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1												p.I230M(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)			AGATTCAAATAACCGTCCTGG	0.433000													39	83					0	0	0.033182	0	0
IVL	3713	broad.mit.edu	37	1	152882670	152882670	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr1:152882670C>A	ENST00000368764.3	+	2	461	c.397C>A	c.(397-399)Caa>Aaa	p.Q133K	IVL_ENST00000392667.2_5'UTR			P07476	INVO_HUMAN	involucrin	133					isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity	p.Q133K(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	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;0.171)			CTTAGACCAGCAACTGGATCA	0.493000													13	45					8.60227e-14	1.14595e-13	0.028581	1	0
ATP2B3	492	broad.mit.edu	37	X	152826288	152826288	+	Silent	SNP	C	C	T			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chrX:152826288C>T	ENST00000370186.1	+	17	3278	c.2952C>T	c.(2950-2952)gaC>gaT	p.D984D	ATP2B3_ENST00000393842.1_Silent_p.D984D|ATP2B3_ENST00000370181.2_Silent_p.D984D|ATP2B3_ENST00000359149.3_Silent_p.D998D|ATP2B3_ENST00000349466.2_Silent_p.D998D|ATP2B3_ENST00000263519.4_Silent_p.D998D			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	998					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding	p.D998D(3)|p.D984D(1)		NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ACGTGTTCGACGGCATCTTCA	0.542000													54	38					0	0	0.048971	0	0
ZNF248	57209	broad.mit.edu	37	10	38120804	38120804	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr10:38120804T>C	ENST00000395867.3	-	6	2029	c.1479A>G	c.(1477-1479)atA>atG	p.I493M	ZNF248_ENST00000374648.3_Intron|ZNF248_ENST00000357328.4_Missense_Mutation_p.I493M|ZNF248_ENST00000494133.1_Intron	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	493					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.I493M(1)		NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						ATTCATTACATATAAACGGTT	0.433000													27	73					0	0	0.037714	0	0
MUC4	4585	broad.mit.edu	37	3	195511959	195511959	+	Silent	SNP	G	G	A			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr3:195511959G>A	ENST00000463781.3	-	2	6951	c.6492C>T	c.(6490-6492)acC>acT	p.T2164T	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Silent_p.T2164T|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	943					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)		AGGAAGTGTCGGTGACAGGAA	0.577000													2	2					0	0	0.004672	0	0
SUZ12P1	440423	broad.mit.edu	37	17	29061941	29061941	+	RNA	SNP	T	T	C	rs112064181	by1000genomes	TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr17:29061941T>C	ENST00000582557.1	+	0	861																											TAGATTTCTTTGAACTCGGAA	0.303000													4	59					0	0	0.014758	0	0
ZNF135	7694	broad.mit.edu	37	19	58579319	58579319	+	Silent	SNP	A	A	G			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr19:58579319A>G	ENST00000506786.1	+	5	1895	c.1341A>G	c.(1339-1341)acA>acG	p.T447T	ZNF135_ENST00000313434.5_Silent_p.T489T|ZNF135_ENST00000439855.2_Silent_p.T489T|ZNF135_ENST00000511556.1_Silent_p.T501T|ZNF135_ENST00000401053.4_Silent_p.T513T|ZNF135_ENST00000359978.6_Intron			B4DHH9	B4DHH9_HUMAN	zinc finger protein 135	501					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.T513T(1)|p.T489T(1)		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)		GAATCCACACAGGGGAGAAGC	0.567000													15	78					0	0	0.028581	0	0
VPS16	64601	broad.mit.edu	37	20	2846896	2846896	+	Nonsense_Mutation	SNP	C	C	A	rs141400236	byFrequency	TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr20:2846896C>A	ENST00000380445.3	+	23	2382	c.2310C>A	c.(2308-2310)taC>taA	p.Y770*	VPS16_ENST00000380469.3_Nonsense_Mutation_p.Y626*|VPS16_ENST00000380443.3_Nonsense_Mutation_p.Y456*|PTPRA_ENST00000380393.3_Intron	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	770					intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						ATAACAAATACGAAGCCAAGA	0.547000													13	62					7.41877e-09	8.92646e-09	0.062417	1	0
UGT3A1	133688	broad.mit.edu	37	5	35968187	35968187	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr5:35968187G>C	ENST00000274278.3	-	3	602	c.245C>G	c.(244-246)cCt>cGt	p.P82R	UGT3A1_ENST00000513233.1_Intron|UGT3A1_ENST00000333811.4_Missense_Mutation_p.P28R|UGT3A1_ENST00000503189.1_Missense_Mutation_p.P82R|UGT3A1_ENST00000507113.1_Missense_Mutation_p.P48R	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	82						integral to membrane	glucuronosyltransferase activity	p.P82R(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ATGATCTTCAGGTGAAAACCA	0.318000													8	33					0	0	0.047766	0	0
FREM2	341640	broad.mit.edu	37	13	39261752	39261752	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr13:39261752C>T	ENST00000280481.7	+	1	487	c.271C>T	c.(271-273)Ccc>Tcc	p.P91S		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	91					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.P91S(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CTGGCTGGATCCCCTGCATGA	0.692000													16	17					0	0	0.033300	0	0
OR4Q3	441669	broad.mit.edu	37	14	20216428	20216428	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr14:20216428C>A	ENST00000331723.1	+	1	842	c.842C>A	c.(841-843)cCt>cAt	p.P281H		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	281					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P281H(1)		NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GTGATTACACCTATGTTGAAC	0.418000													26	239					1.42536e-11	1.81453e-11	0.024334	1	0
CENPF	1063	broad.mit.edu	37	1	214818476	214818476	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr1:214818476G>T	ENST00000366955.3	+	13	5731	c.5563G>T	c.(5563-5565)Gag>Tag	p.E1855*		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	1951					cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	p.E1855*(1)		NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		TGATCACCAGGAGTTACTCCA	0.343000													5	44					5.9392e-07	6.77468e-07	0.021553	1	0
HK3	3101	broad.mit.edu	37	5	176308305	176308305	+	Silent	SNP	C	C	G			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr5:176308305C>G	ENST00000292432.5	-	18	2716	c.2625G>C	c.(2623-2625)ccG>ccC	p.P875P		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	875	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity	p.P875P(2)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGACTCACCGCGGGTGCAGCT	0.672000													39	130					0	0	0.048971	0	0
LAMB4	22798	broad.mit.edu	37	7	107704266	107704266	+	Missense_Mutation	SNP	C	C	T	rs142967094		TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr7:107704266C>T	ENST00000388781.3	-	22	3084	c.3001G>A	c.(3001-3003)Gca>Aca	p.A1001T	LAMB4_ENST00000205386.4_Missense_Mutation_p.A1001T|LAMB4_ENST00000388780.3_Missense_Mutation_p.A1001T	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1001	Laminin EGF-like 10.				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						TGGCAGTTTGCGCCCTGAGTG	0.527000													4	200					0	0	0.009096	0	0
OR10A3	26496	broad.mit.edu	37	11	7960643	7960643	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr11:7960643A>G	ENST00000360759.3	-	1	498	c.425T>C	c.(424-426)aTg>aCg	p.M142T		NM_001003745.1	NP_001003745.1	P58181	O10A3_HUMAN	olfactory receptor, family 10, subfamily A, member 3	142					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M142T(1)		endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)	21				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TACTAATTTCATAAAAACCCC	0.423000													4	100					0	0	0.014758	0	0
GCNT2	2651	broad.mit.edu	37	6	10556946	10556946	+	Missense_Mutation	SNP	A	A	G	rs55988612		TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr6:10556946A>G	ENST00000316170.3	+	1	707	c.290A>G	c.(289-291)tAt>tGt	p.Y97C	GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000379597.3_Intron|GCNT2_ENST00000410107.1_Intron	NM_001491.2	NP_001482.1	Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	99						Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	p.Y97C(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		CCCTTGGCATATATAATGGTC	0.423000													88	90					0	0	0.048971	0	0
CPD	1362	broad.mit.edu	37	17	28791816	28791816	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr17:28791816A>G	ENST00000225719.4	+	21	4203	c.4127A>G	c.(4126-4128)tAt>tGt	p.Y1376C	CPD_ENST00000543464.2_Missense_Mutation_p.Y1129C	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	1376					proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding	p.Y1376C(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						GAAACATTATATTCTAGCAAA	0.403000													17	56					0	0	0.049695	0	0
OR5I1	10798	broad.mit.edu	37	11	55703060	55703060	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr11:55703060C>T	ENST00000301532.3	-	1	816	c.817G>A	c.(817-819)Gat>Aat	p.D273N		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	273					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D273N(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						ATAATTTTATCAGTGTTTGGA	0.408000													5	18					0	0	0.038147	0	0
FBXL7	23194	broad.mit.edu	37	5	15936997	15936997	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr5:15936997G>T	ENST00000504595.1	+	4	1659	c.1178G>T	c.(1177-1179)gGt>gTt	p.G393V	FBXL7_ENST00000329673.7_Missense_Mutation_p.G381V|FBXL7_ENST00000510662.1_Missense_Mutation_p.G346V	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	393					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	p.G393V(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						ACGGACCACGGTGTGGAGTAC	0.622000													6	19					0.00116845	0.00123815	0.021553	1	0
ANO6	196527	broad.mit.edu	37	12	45795743	45795743	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr12:45795743A>G	ENST00000320560.8	+	13	1754	c.1552A>G	c.(1552-1554)Ata>Gta	p.I518V	ANO6_ENST00000441606.2_Missense_Mutation_p.I500V|ANO6_ENST00000423947.3_Missense_Mutation_p.I539V|ANO6_ENST00000435642.1_Missense_Mutation_p.I518V|ANO6_ENST00000426898.2_3'UTR|ANO6_ENST00000425752.2_Missense_Mutation_p.I518V	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	518					activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity	p.I518V(2)		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						CATCAGCTTTATAATTATCAT	0.388000													20	133					0	0	0.049695	0	0
DPP9	91039	broad.mit.edu	37	19	4685763	4685763	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr19:4685763G>A	ENST00000262960.9	-	17	2183	c.1906C>T	c.(1906-1908)Cct>Tct	p.P636S	DPP9_ENST00000598800.1_Missense_Mutation_p.P607S|AC005594.3_ENST00000381796.1_RNA|DPP9_ENST00000594671.1_Missense_Mutation_p.P607S	NM_139159.4	NP_631898.3	Q86TI2	DPP9_HUMAN	dipeptidyl-peptidase 9	607					proteolysis	cytosol|membrane	aminopeptidase activity|serine-type peptidase activity	p.P715S(1)		cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		ATCTCTGGAGGAACATAATCC	0.627000													10	23					0	0	0.010729	0	0
CACNA1S	779	broad.mit.edu	37	1	201044702	201044702	+	Silent	SNP	C	C	A			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr1:201044702C>A	ENST00000362061.3	-	13	2095	c.1869G>T	c.(1867-1869)ggG>ggT	p.G623G	CACNA1S_ENST00000367338.3_Silent_p.G623G	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	623					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	p.G623G(1)		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)	AGGCCATGATCCCATTGTACA	0.542000													83	195					2.20344e-50	3.75289e-50	0.048971	1	0
ATP6AP1L	92270	broad.mit.edu	37	5	81608494	81608494	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr5:81608494A>G	ENST00000380167.4	+	9	1521	c.196A>G	c.(196-198)Atc>Gtc	p.I66V	ATP6AP1L_ENST00000508366.1_3'UTR|ATP6AP1L_ENST00000439350.1_Missense_Mutation_p.I66V			Q52LC2	VAS1L_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1-like	66					ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain	hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	p.I66V(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	12						CCGAGTCGAGATCATTTCCAA	0.453000											OREG0016689	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	81	209					0	0	0.048971	0	0
NNT	23530	broad.mit.edu	37	5	43656049	43656049	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr5:43656049A>G	ENST00000264663.5	+	15	2388	c.2167A>G	c.(2167-2169)Att>Gtt	p.I723V	NNT_ENST00000344920.4_Missense_Mutation_p.I723V|NNT_ENST00000512996.2_Missense_Mutation_p.I592V	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	723					tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding	p.I723V(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)				NADH(DB00157)	AGCTGAGTACATTATAGAATA	0.438000													16	47					0	0	0.033300	0	0
LOC100130700	100130700	broad.mit.edu	37	16	34739716	34739716	+	RNA	SNP	G	G	T			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr16:34739716G>T	ENST00000562591.1	-	0	206					NR_034019.1																						TGTCCACCCTGCAGGGAGCTG	0.383000													10	39					7.48243e-07	8.50898e-07	0.058154	1	0
ZFYVE26	23503	broad.mit.edu	37	14	68272236	68272236	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr14:68272236C>A	ENST00000347230.4	-	7	1255	c.1117G>T	c.(1117-1119)Ggc>Tgc	p.G373C	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.G373C	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	373					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	p.G373C(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		TGTGTCCAGCCCAGGAGTACA	0.532000													29	69					1.45844e-13	1.93593e-13	0.054565	1	0
SP7	121340	broad.mit.edu	37	12	53722173	53722173	+	Silent	SNP	C	C	T	rs137853893		TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr12:53722173C>T	ENST00000536324.2	-	3	1336	c.1053G>A	c.(1051-1053)gaG>gaA	p.E351E	SP7_ENST00000537210.2_Silent_p.E333E|SP7_ENST00000303846.3_Silent_p.E351E	NM_001173467.1	NP_001166938.1	Q8TDD2	SP7_HUMAN	Sp7 transcription factor	351					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E351E(1)		cervix(2)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	14						TGAACTTCTTCTCCCGGGTGT	0.617000											OREG0021867	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	46	69					0	0	0.048971	0	0
SORCS1	114815	broad.mit.edu	37	10	108371774	108371774	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr10:108371774G>T	ENST00000263054.6	-	22	2935	c.2928C>A	c.(2926-2928)ttC>ttA	p.F976L	SORCS1_ENST00000369698.1_Missense_Mutation_p.F511L|SORCS1_ENST00000344440.6_Missense_Mutation_p.F976L|SORCS1_ENST00000478809.2_5'UTR	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	976						integral to membrane	neuropeptide receptor activity|protein binding	p.F976L(2)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		GAAGAGACCGGAATTCCTCTG	0.443000													13	62					6.72482e-11	8.44565e-11	0.024245	1	0
NRXN3	9369	broad.mit.edu	37	14	79175581	79175581	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr14:79175581A>T	ENST00000554719.1	+	4	615	c.124A>T	c.(124-126)Atc>Ttc	p.I42F	RP11-232C2.2_ENST00000555680.1_RNA|NRXN3_ENST00000335750.5_Missense_Mutation_p.I42F	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	0					angiogenesis|cell adhesion	integral to membrane		p.I42F(1)		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)		GAATAATGACATCCGTCTGGA	0.468000													16	57					0	0	0.055883	0	0
NOS2	4843	broad.mit.edu	37	17	26114747	26114747	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr17:26114747G>C	ENST00000313735.6	-	5	657	c.424C>G	c.(424-426)Caa>Gaa	p.Q142E		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	142					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding	p.Q142E(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	TCGATAGCTTGAGGTAGAAGC	0.527000													68	220					0	0	0.048971	0	0
VPS16	64601	broad.mit.edu	37	20	2846897	2846897	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr20:2846897G>T	ENST00000380445.3	+	23	2383	c.2311G>T	c.(2311-2313)Gaa>Taa	p.E771*	VPS16_ENST00000380469.3_Nonsense_Mutation_p.E627*|VPS16_ENST00000380443.3_Nonsense_Mutation_p.E457*|PTPRA_ENST00000380393.3_Intron	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	771					intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						TAACAAATACGAAGCCAAGAA	0.547000													13	62					5.26018e-13	6.8603e-13	0.062417	1	0
OR8J3	81168	broad.mit.edu	37	11	55904471	55904471	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr11:55904471C>T	ENST00000301529.1	-	1	723	c.724G>A	c.(724-726)Gct>Act	p.A242T		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	242					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A242T(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					ATATGCGAAGCGCAGGTGGAA	0.393000													14	50					0	0	0.043863	0	0
ZNF135	7694	broad.mit.edu	37	19	58579321	58579321	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr19:58579321G>T	ENST00000506786.1	+	5	1897	c.1343G>T	c.(1342-1344)gGg>gTg	p.G448V	ZNF135_ENST00000313434.5_Missense_Mutation_p.G490V|ZNF135_ENST00000439855.2_Missense_Mutation_p.G490V|ZNF135_ENST00000511556.1_Missense_Mutation_p.G502V|ZNF135_ENST00000401053.4_Missense_Mutation_p.G514V|ZNF135_ENST00000359978.6_Intron			B4DHH9	B4DHH9_HUMAN	zinc finger protein 135	502					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.G490V(1)|p.G514V(1)		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)		ATCCACACAGGGGAGAAGCCC	0.567000													15	78					7.05477e-17	9.89258e-17	0.033300	1	0
KLK7	5650	broad.mit.edu	37	19	51483646	51483646	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr19:51483646G>T	ENST00000391807.1	-	4	420	c.319C>A	c.(319-321)Cag>Aag	p.Q107K	KLK7_ENST00000336317.4_5'UTR|CTB-147C22.9_ENST00000594512.1_RNA|KLK7_ENST00000595820.1_Missense_Mutation_p.Q107K|KLK7_ENST00000597707.1_Missense_Mutation_p.Q35K	NM_139277.2	NP_644806.1	P49862	KLK7_HUMAN	kallikrein-related peptidase 7	107	Peptidase S1.				epidermis development|proteolysis	extracellular region	serine-type endopeptidase activity	p.Q107K(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(2)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00382)|GBM - Glioblastoma multiforme(134;0.00895)		ACATGGGTCTGTGTGGAGTAG	0.592000													25	65					1.77063e-15	2.43707e-15	0.027356	1	0
IRF9	10379	broad.mit.edu	37	14	24620762	24620762	+	Silent	SNP	A	A	T			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr14:24620762A>T	ENST00000558468.1	+	2	231	c.231A>T	c.(229-231)ggA>ggT	p.G77G	RNF31_ENST00000382687.3_Silent_p.G451G|RNF31_ENST00000559275.1_Silent_p.G451G|RNF31_ENST00000324103.6_Silent_p.G602G														p.G602G(1)									TCCAGCACGGAGGTGATGTGT	0.637000													17	58					0	0	0.043863	0	0
KIR3DL1	3811	broad.mit.edu	37	19	55340905	55340905	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr19:55340905T>A	ENST00000391728.4	+	7	1123	c.1090T>A	c.(1090-1092)Tgc>Agc	p.C364S	KIR3DL1_ENST00000541392.1_Missense_Mutation_p.C347S|KIR3DL1_ENST00000538269.1_Missense_Mutation_p.C364S|KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000358178.4_Missense_Mutation_p.C269S|KIR3DL1_ENST00000326542.7_Missense_Mutation_p.C347S	NM_013289.2	NP_037421.2			killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1									p.C364S(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)		tcatctcTGGTGCTCCAACAA	0.532000													39	38					0	0	0.021022	0	0
DNM1P47	100216544	broad.mit.edu	37	15	102304772	102304772	+	RNA	SNP	T	T	C			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr15:102304772T>C	ENST00000561463.1	+	0	12818																											CACAGCGGCGTGACGAGACTC	0.587000													5	21					0	0	0.014758	0	0
PPFIA1	8500	broad.mit.edu	37	11	70221071	70221071	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr11:70221071A>C	ENST00000253925.7	+	24	3402	c.3187A>C	c.(3187-3189)Att>Ctt	p.I1063L	AP000487.5_ENST00000530690.1_RNA|AP000487.5_ENST00000500185.2_RNA|PPFIA1_ENST00000389547.3_Missense_Mutation_p.I1063L|PPFIA1_ENST00000530548.1_3'UTR	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	1063	SAM 3.				cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity	p.I1063L(1)		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)			GATCCTGTCAATTGGCCTTAA	0.423000													20	104					0	0	0.055883	0	0
DNM1P47	100216544	broad.mit.edu	37	15	102312716	102312716	+	RNA	SNP	G	G	A			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr15:102312716G>A	ENST00000561463.1	+	0	14084																											TCACATCTCGGCAGTGACCTG	0.577000													19	48					0	0	0.062417	0	0
XIST	7503	broad.mit.edu	37	X	73065721	73065721	+	RNA	SNP	T	T	G			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chrX:73065721T>G	ENST00000429829.1	-	0	6867					NR_001564.2																						ATCACGCACATAACAGGCCAA	0.532000													42	35					0	0	0.030466	0	0
UBR4	23352	broad.mit.edu	37	1	19433433	19433433	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr1:19433433C>A	ENST00000375267.2	-	82	12136	c.12133G>T	c.(12133-12135)Gtg>Ttg	p.V4045L	UBR4_ENST00000375254.3_Missense_Mutation_p.V4045L|UBR4_ENST00000375217.2_Missense_Mutation_p.V4038L|UBR4_ENST00000375226.2_Missense_Mutation_p.V4021L			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	4045					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	p.V4045L(1)		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)		TATGGCTTCACCGTGGTGAGG	0.577000													6	27					0.0381472	0.0395248	0.038147	1	0
ACOXL	55289	broad.mit.edu	37	2	111556667	111556667	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr2:111556667G>A	ENST00000389811.4	+	7	761	c.537G>A	c.(535-537)atG>atA	p.M179I	ACOXL_ENST00000439055.1_Missense_Mutation_p.M179I|ACOXL_ENST00000340561.4_Missense_Mutation_p.M179I			Q9NUZ1	ACOXL_HUMAN	acyl-CoA oxidase-like	179					fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity	p.M179I(2)		kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						TTGATATGATGTACAAGGAGG	0.502000													46	95					0	0	0.048971	0	0
SSPO	23145	broad.mit.edu	37	7	149522402	149522402	+	RNA	SNP	G	G	T			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr7:149522402G>T	ENST00000378016.2	+	0	14032							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity	p.W65C(1)				Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			ATTCACCCTGGACTGTGCCAA	0.637000													28	145					6.00712e-18	8.61791e-18	0.050027	1	0
STK24	8428	broad.mit.edu	37	13	99127205	99127205	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr13:99127205C>T	ENST00000397517.2	-	5	543	c.467G>A	c.(466-468)gGc>gAc	p.G156D	STK24_ENST00000376547.3_Missense_Mutation_p.G168D|STK24_ENST00000539966.1_Missense_Mutation_p.G137D	NM_001032296.2	NP_001027467.2	Q9Y6E0	STK24_HUMAN	serine/threonine kinase 24	168	Protein kinase.				cellular component disassembly involved in apoptosis|signal transduction	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity	p.G168D(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			CTTCACCTCGCCATGCTCAGA	0.617000													3	24					0	0	0.038147	0	0
FRMD6	122786	broad.mit.edu	37	14	52186866	52186866	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr14:52186866C>T	ENST00000395718.2	+	11	1379	c.1094C>T	c.(1093-1095)gCg>gTg	p.A365V	FRMD6_ENST00000553556.1_Missense_Mutation_p.A15V|FRMD6_ENST00000554167.1_Missense_Mutation_p.A296V|FRMD6_ENST00000356218.4_Missense_Mutation_p.A365V|FRMD6_ENST00000344768.5_Missense_Mutation_p.A373V	NM_001267046.1|NM_152330.3	NP_001253975.1|NP_689543.1	Q96NE9	FRMD6_HUMAN	FERM domain containing 6	373						cytoskeleton|mitochondrion|plasma membrane	binding	p.A365V(1)		breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					GGGAGCAGTGCGGGCAGCATG	0.607000													12	46					0	0	0.010729	0	0
PCDH12	51294	broad.mit.edu	37	5	141335023	141335023	+	Silent	SNP	C	C	T			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr5:141335023C>T	ENST00000231484.3	-	1	3604	c.2394G>A	c.(2392-2394)gtG>gtA	p.V798V		NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	798					neuron recognition	integral to plasma membrane	calcium ion binding	p.V798V(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTCCTTGTCCACATCTTTGT	0.612000													21	34					0	0	0.055883	0	0
MSH6	2956	broad.mit.edu	37	2	48027856	48027856	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr2:48027856T>C	ENST00000234420.4	+	4	2886	c.2734T>C	c.(2734-2736)Tgg>Cgg	p.W912R	MSH6_ENST00000538136.1_Missense_Mutation_p.W610R|FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000540021.1_Missense_Mutation_p.W782R	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	912					determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	p.0?(2)|p.W912R(1)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			ATTGAACCGATGGGATACAGC	0.418000			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				49	121					0	0	0.048971	0	0
RYR2	6262	broad.mit.edu	37	1	237656365	237656365	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr1:237656365C>A	ENST00000366574.2	+	19	2256	c.1939C>A	c.(1939-1941)Cgt>Agt	p.R647S	RYR2_ENST00000542537.1_Missense_Mutation_p.R631S|RYR2_ENST00000360064.6_Missense_Mutation_p.R645S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	647	B30.2/SPRY 1.				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	p.R645S(1)		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)			ATTGCAGACACGTCTTGTGAA	0.443000													6	21					1.06961e-07	1.23519e-07	0.038147	1	0
MUC2	4583	broad.mit.edu	37	11	1080962	1080962	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr11:1080962T>A	ENST00000441003.2	+	10	1373	c.1346T>A	c.(1345-1347)cTg>cAg	p.L449Q	MUC2_ENST00000359061.5_Missense_Mutation_p.L449Q	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	449	VWFD 2.					inner mucus layer|outer mucus layer	protein binding	p.L449Q(2)		NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	ACGGTGGTGCTGCTGGCTGAC	0.647000													37	49					0	0	0.033182	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117417645	117417645	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr7:117417645C>A	ENST00000160373.3	-	8	2789	c.2698G>T	c.(2698-2700)Gtt>Ttt	p.V900F		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	900								p.V900F(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		GCAGGAACAACAGGCTTGGAT	0.493000													17	60					1.96292e-10	2.4244e-10	0.055883	1	0
AMTN	401138	broad.mit.edu	37	4	71390668	71390668	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr4:71390668T>G	ENST00000339336.4	+	5	414	c.284T>G	c.(283-285)cTg>cGg	p.L95R	AMTN_ENST00000504451.1_Missense_Mutation_p.L94R	NM_212557.2	NP_997722.1	Q6UX39	AMTN_HUMAN	amelotin	95					biomineral tissue development|cell adhesion|odontogenesis of dentine-containing tooth	basal lamina|cell-cell junction		p.L95R(1)		NS(3)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)|skin(1)	19			Lung(101;0.235)			CAACAGCAACTGCACCCACAT	0.448000													18	30					0	0	0.049695	0	0
IGSF8	93185	broad.mit.edu	37	1	160063683	160063683	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr1:160063683C>T	ENST00000368086.1	-	3	937	c.721G>A	c.(721-723)Ggg>Agg	p.G241R	IGSF8_ENST00000314485.7_Missense_Mutation_p.G241R|IGSF8_ENST00000460351.1_5'UTR			Q969P0	IGSF8_HUMAN	immunoglobulin superfamily, member 8	241	Ig-like C2-type 2.				cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development	integral to membrane	protein binding	p.G241R(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1)	33	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)			CGAAGCTCCCCTGCAGCCAAT	0.642000													20	35					0	0	0.014323	0	0
MAPK9	5601	broad.mit.edu	37	5	179666965	179666965	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr5:179666965G>A	ENST00000452135.2	-	10	1317	c.1019C>T	c.(1018-1020)gCc>gTc	p.A340V	MAPK9_ENST00000455781.1_Missense_Mutation_p.A340V|MAPK9_ENST00000397072.3_3'UTR|MAPK9_ENST00000343111.6_Missense_Mutation_p.A340V|MAPK9_ENST00000347470.4_Missense_Mutation_p.A255V|MAPK9_ENST00000393360.3_Missense_Mutation_p.A340V			P45984	MK09_HUMAN	mitogen-activated protein kinase 9	340					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|protein binding	p.A340V(3)		central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTCCAACTGGGCATCATAAAT	0.343000													25	76					0	0	0.041601	0	0
TMEM132B	114795	broad.mit.edu	37	12	125834059	125834059	+	Silent	SNP	C	C	T			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr12:125834059C>T	ENST00000299308.3	+	2	122	c.114C>T	c.(112-114)ctC>ctT	p.L38L	TMEM132B_ENST00000418253.2_3'UTR	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	38						integral to membrane		p.L38L(1)		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)		CTGCTTACCTCCCCACGAACT	0.507000													40	235					0	0	0.030466	0	0
ELP4	26610	broad.mit.edu	37	11	31669325	31669325	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr11:31669325G>T	ENST00000395934.2	+	8	971	c.964G>T	c.(964-966)Gat>Tat	p.D322Y	Z83001.1_ENST00000429821.1_RNA|ELP4_ENST00000379163.5_Missense_Mutation_p.D323Y|ELP4_ENST00000350638.5_Missense_Mutation_p.D322Y			Q96EB1	ELP4_HUMAN	elongator acetyltransferase complex subunit 4	322					histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding	p.D322Y(2)		breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20	Lung SC(675;0.225)					AACCTTGTCAGATGTAGTAGT	0.323000													14	46					1.37285e-15	1.90362e-15	0.028581	1	0
SLCO6A1	133482	broad.mit.edu	37	5	101748746	101748746	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr5:101748746A>T	ENST00000506729.1	-	9	1745	c.1574T>A	c.(1573-1575)tTt>tAt	p.F525Y	SLCO6A1_ENST00000513675.1_Missense_Mutation_p.F272Y|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.F525Y|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.F272Y|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.F463Y			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	525	Kazal-like.					integral to membrane|plasma membrane	transporter activity	p.F525Y(1)		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)		GCAGGGAGAAAAATATTCAAT	0.303000													6	17					0	0	0.047766	0	0
SEC24D	9871	broad.mit.edu	37	4	119745843	119745843	+	Silent	SNP	A	A	G			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr4:119745843A>G	ENST00000379735.5	-	3	451	c.180T>C	c.(178-180)ggT>ggC	p.G60G	SEC24D_ENST00000280551.6_Silent_p.G60G|SEC24D_ENST00000419654.2_5'UTR	NM_014822.2	NP_055637.2	O94855	SC24D_HUMAN	SEC24 family member D	60	Pro-rich.				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	p.G60G(1)		breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						GAGGTGGGGGACCCGGAGGCA	0.542000													55	162					0	0	0.048971	0	0
C14orf37	145407	broad.mit.edu	37	14	58471506	58471506	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr14:58471506C>T	ENST00000267485.7	-	8	2467	c.2273G>A	c.(2272-2274)aGc>aAc	p.S758N		NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	758						integral to membrane	binding	p.S758N(1)		breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						ATCTTGCATGCTGTTGAATTC	0.388000													29	116					0	0	0.034045	0	0
VPS53	55275	broad.mit.edu	37	17	600720	600720	+	Translation_Start_Site	SNP	G	G	T	rs138068150		TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr17:600720G>T	ENST00000446250.2	-	0	369				VPS53_ENST00000291074.5_Missense_Mutation_p.L75M|VPS53_ENST00000574029.1_Intron|VPS53_ENST00000437048.2_Missense_Mutation_p.L75M|VPS53_ENST00000401468.3_Missense_Mutation_p.L75M|VPS53_ENST00000571805.1_Missense_Mutation_p.L75M			Q5VIR6	VPS53_HUMAN	vacuolar protein sorting 53 homolog (S. cerevisiae)						protein transport	endosome membrane|Golgi apparatus		p.L75M(2)		breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		TTGTCATCCAGTCTCCTAGCA	0.378000													46	112					2.14674e-31	3.54307e-31	0.048971	1	0
LAMB2	3913	broad.mit.edu	37	3	49165961	49165961	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr3:49165961C>A	ENST00000418109.1	-	16	2112	c.1948G>T	c.(1948-1950)Gcc>Tcc	p.A650S	LAMB2_ENST00000305544.4_Missense_Mutation_p.A650S	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	650	Laminin IV type B.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity	p.A650C(1)		NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		AGGCTGTGGGCAGGCACAGGC	0.587000													10	54					1.49906e-05	1.64456e-05	0.020292	1	0
ACSL6	23305	broad.mit.edu	37	5	131308464	131308464	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr5:131308464T>C	ENST00000379264.2	-	13	1399	c.1291A>G	c.(1291-1293)Atc>Gtc	p.I431V	ACSL6_ENST00000379272.2_Missense_Mutation_p.I421V|ACSL6_ENST00000379246.1_Missense_Mutation_p.I417V|ACSL6_ENST00000296869.4_Missense_Mutation_p.I431V|ACSL6_ENST00000357096.1_Missense_Mutation_p.I331V|ACSL6_ENST00000379244.1_Missense_Mutation_p.I406V|ACSL6_ENST00000379255.1_Missense_Mutation_p.I331V|ACSL6_ENST00000543479.1_Missense_Mutation_p.I406V|ACSL6_ENST00000379249.3_Missense_Mutation_p.I406V|ACSL6_ENST00000544770.1_Missense_Mutation_p.I315V|ACSL6_ENST00000431707.1_Missense_Mutation_p.I386V|ACSL6_ENST00000379240.1_Missense_Mutation_p.I406V	NM_001009185.2	NP_001009185.1	Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	406					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity	p.I431V(2)		NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCATTCCTGATGATTCCACTC	0.438000													36	91					0	0	0.036044	0	0
BCL11B	64919	broad.mit.edu	37	14	99724120	99724120	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr14:99724120C>T	ENST00000345514.2	-	2	381	c.115G>A	c.(115-117)Gag>Aag	p.E39K	BCL11B_ENST00000443726.2_Intron|BCL11B_ENST00000357195.3_Missense_Mutation_p.E39K	NM_022898.1	NP_075049.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	0						nucleus	zinc ion binding	p.E39K(1)		NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		CTTGGCTCCTCTATCTCCAGA	0.587000			T	TLX3	T-ALL								16	36					0	0	0.038395	0	0
CDH6	1004	broad.mit.edu	37	5	31323229	31323229	+	Silent	SNP	C	C	A			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr5:31323229C>A	ENST00000265071.2	+	12	2452	c.2187C>A	c.(2185-2187)gcC>gcA	p.A729A		NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	729					adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	p.A729A(1)		NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						ACCCCACTGCCCCGCCATACG	0.557000													12	35					1.15088e-07	1.32493e-07	0.028581	1	0
OR51D1	390038	broad.mit.edu	37	11	4661687	4661687	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr11:4661687G>T	ENST00000357605.2	+	1	743	c.667G>T	c.(667-669)Gac>Tac	p.D223Y		NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D, member 1	223					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D223Y(1)		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)		CATGGGTGTGGACTCTCTCTT	0.493000													30	117					1.22674e-20	1.85253e-20	0.033182	1	0
RBM10	8241	broad.mit.edu	37	X	47041247	47041247	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chrX:47041247G>T	ENST00000377604.3	+	15	2417	c.1675G>T	c.(1675-1677)Gaa>Taa	p.E559*	RBM10_ENST00000329236.7_Nonsense_Mutation_p.E481*|RBM10_ENST00000345781.6_Nonsense_Mutation_p.E482*|RBM10_ENST00000468791.1_Intron	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	559					mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding	p.E559*(1)		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						CACTGCCCAGGAATCCTACAG	0.577000													12	12					5.50884e-06	6.07928e-06	0.013537	1	0
MGA	23269	broad.mit.edu	37	15	42041781	42041781	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr15:42041781G>T	ENST00000219905.7	+	17	6157	c.5976G>T	c.(5974-5976)aaG>aaT	p.K1992N	MGA_ENST00000389936.4_Missense_Mutation_p.K1953N|MGA_ENST00000566586.1_Missense_Mutation_p.K1783N|MGA_ENST00000570161.1_Missense_Mutation_p.K1992N|MGA_ENST00000545763.1_Missense_Mutation_p.K1783N	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	1953						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	p.K2041N(1)		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)		AAACGAAGAAGGTTCTACAGT	0.413000													23	51					6.32553e-13	8.22099e-13	0.024334	1	0
DPF3	8110	broad.mit.edu	37	14	73220047	73220047	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr14:73220047C>G	ENST00000541685.1	-	3	238	c.226G>C	c.(226-228)Gcc>Ccc	p.A76P	DPF3_ENST00000546183.1_Missense_Mutation_p.A86P|DPF3_ENST00000556509.1_Missense_Mutation_p.A76P	NM_012074.3	NP_036206.3	Q92784	DPF3_HUMAN	D4, zinc and double PHD fingers, family 3	76					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex	nucleic acid binding|zinc ion binding	p.A76P(2)|p.A75P(1)		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)		CAGCAGCGGGCAGGGTATGTA	0.557000													4	23					0	0	0.021553	0	0
SUN5	140732	broad.mit.edu	37	20	31587901	31587901	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr20:31587901T>C	ENST00000356173.3	-	5	411	c.319A>G	c.(319-321)Att>Gtt	p.I107V	SUN5_ENST00000375519.2_Silent_p.A84A|SUN5_ENST00000375523.3_Missense_Mutation_p.I82V	NM_080675.3	NP_542406.2	Q8TC36	SUN5_HUMAN	Sad1 and UNC84 domain containing 5	107					spermatogenesis			p.I107V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	25						AGGAGCAGAATGCCTGTCTTC	0.597000													9	21					0	0	0.013537	0	0
OR1J1	347168	broad.mit.edu	37	9	125239348	125239348	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr9:125239348G>T	ENST00000259357.2	-	1	887	c.858C>A	c.(856-858)aaC>aaA	p.N286K		NM_001004451.1	NP_001004451.1	Q8NGS3	OR1J1_HUMAN	olfactory receptor, family 1, subfamily J, member 1	286					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.N286K(1)		endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	16						AAATGAATGGGTTCAACATGG	0.423000													48	102					2.23044e-30	3.64892e-30	0.048971	1	0
ST18	9705	broad.mit.edu	37	8	53079434	53079434	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr8:53079434G>T	ENST00000276480.7	-	11	1865	c.1182C>A	c.(1180-1182)caC>caA	p.H394Q		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	394						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.H394Q(1)		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)				CCCGCACTTTGTGGGGGCACC	0.557000													37	128					1.17475e-09	1.43666e-09	0.048971	1	0
GABRA5	2558	broad.mit.edu	37	15	27185181	27185181	+	Silent	SNP	C	C	A			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr15:27185181C>A	ENST00000335625.5	+	9	1722	c.834C>A	c.(832-834)tcC>tcA	p.S278S	GABRA5_ENST00000355395.5_Silent_p.S278S|GABRA5_ENST00000400081.3_Silent_p.S278S	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	278					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	p.S278S(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CACAGGTGTCCTTTTGGCTGA	0.507000													10	36					1.58986e-06	1.7862e-06	0.008291	1	0
FAM171A1	221061	broad.mit.edu	37	10	15326063	15326063	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr10:15326063G>T	ENST00000378116.4	-	2	145	c.139C>A	c.(139-141)Cag>Aag	p.Q47K		NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	47						integral to membrane		p.Q47K(2)		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						GCTACGGGCTGGTGGGTGCTG	0.532000													24	88					5.24475e-26	8.28937e-26	0.024334	1	0
MAP3K12	7786	broad.mit.edu	37	12	53876414	53876414	+	Silent	SNP	G	G	T			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr12:53876414G>T	ENST00000267079.2	-	12	2299	c.2074C>A	c.(2074-2076)Cgg>Agg	p.R692R	MAP3K12_ENST00000547488.1_Silent_p.R725R|MAP3K12_ENST00000547035.1_Silent_p.R725R	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	692					histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	p.R692R(1)|p.R725R(1)		NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						GACCCAGCCCGGCTTCCTCCC	0.627000													124	195					9.48018e-61	1.63709e-60	0.048971	1	0
PLK4	10733	broad.mit.edu	37	4	128814717	128814717	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr4:128814717G>A	ENST00000270861.5	+	12	2646	c.2372G>A	c.(2371-2373)aGg>aAg	p.R791K	PLK4_ENST00000513090.1_Missense_Mutation_p.R759K|PLK4_ENST00000514379.1_Missense_Mutation_p.R750K|PLK4_ENST00000507249.1_Missense_Mutation_p.R730K|PLK4_ENST00000515069.1_Missense_Mutation_p.R713K	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN	polo-like kinase 4	791					G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation	centriole|cleavage furrow|cytosol|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R791K(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						GAAGAGGAAAGGAAAACTAGG	0.328000													15	42					0	0	0.028581	0	0
GAL	51083	broad.mit.edu	37	11	68455487	68455487	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr11:68455487G>A	ENST00000265643.3	+	4	400	c.142G>A	c.(142-144)Gtt>Att	p.V48I		NM_015973.3	NP_057057.2	P22466	GALA_HUMAN	galanin/GMAP prepropeptide	48					growth hormone secretion|insulin secretion|neuropeptide signaling pathway|smooth muscle contraction	extracellular region	neuropeptide hormone activity	p.V48I(1)		lung(4)	4	Esophageal squamous(3;7.33e-10)	Melanoma(852;0.0749)	LUAD - Lung adenocarcinoma(13;0.0514)	Kidney(183;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.000152)|LUSC - Lung squamous cell carcinoma(976;0.00154)		AACAGATGCCGTTGGCAACCA	0.572000													17	47					0	0	0.049695	0	0
CEP152	22995	broad.mit.edu	37	15	49030736	49030736	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr15:49030736C>A	ENST00000380950.2	-	27	5030	c.4843G>T	c.(4843-4845)Ggt>Tgt	p.G1615C	CEP152_ENST00000399334.3_Missense_Mutation_p.G1559C	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	1559					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding	p.G1559C(1)		breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		GAAAGATAACCGGATGGTGAA	0.378000													16	53					2.94398e-08	3.44234e-08	0.043863	1	0
OR2L13	284521	broad.mit.edu	37	1	248263535	248263535	+	Silent	SNP	C	C	A			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr1:248263535C>A	ENST00000366478.2	+	3	1195	c.858C>A	c.(856-858)ccC>ccA	p.P286P	OR2L13_ENST00000358120.2_Silent_p.P286P	NM_175911.2	NP_787107.1	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	286					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding	p.P286P(2)		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)			TGCTCAATCCCATTATCTACA	0.493000													6	61					2.62144e-13	3.44295e-13	0.047766	1	0
LPHN2	23266	broad.mit.edu	37	1	82408764	82408764	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr1:82408764T>C	ENST00000370728.1	+	8	1154	c.509T>C	c.(508-510)aTt>aCt	p.I170T	LPHN2_ENST00000370725.1_Missense_Mutation_p.I170T|LPHN2_ENST00000335786.5_Missense_Mutation_p.I170T|LPHN2_ENST00000359929.3_Missense_Mutation_p.I170T|LPHN2_ENST00000370713.1_Missense_Mutation_p.I170T|LPHN2_ENST00000370727.1_Missense_Mutation_p.I170T|LPHN2_ENST00000370717.2_Missense_Mutation_p.I170T|LPHN2_ENST00000370730.1_Missense_Mutation_p.I170T|LPHN2_ENST00000370715.1_Missense_Mutation_p.I170T|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000271029.4_Missense_Mutation_p.I170T|LPHN2_ENST00000319517.6_Missense_Mutation_p.I170T|LPHN2_ENST00000370721.1_Missense_Mutation_p.I174T|LPHN2_ENST00000394879.1_Missense_Mutation_p.I170T|LPHN2_ENST00000370723.1_Missense_Mutation_p.I170T			O95490	LPHN2_HUMAN	latrophilin 2	170	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	p.I170T(2)		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)		GCAGATAAAATTTATTTCATG	0.408000													8	54					0	0	0.047766	0	0
FAM135B	51059	broad.mit.edu	37	8	139164306	139164306	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr8:139164306C>G	ENST00000395297.1	-	13	2582	c.2412G>C	c.(2410-2412)aaG>aaC	p.K804N		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	804								p.K804N(2)		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)			AACCTTGGCTCTTGCTGTGCA	0.517000										HNSCC(54;0.14)			27	93					0	0	0.037714	0	0
UBE4B	10277	broad.mit.edu	37	1	10155625	10155625	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr1:10155625G>A	ENST00000343090.6	+	3	393	c.318G>A	c.(316-318)atG>atA	p.M106I	UBE4B_ENST00000377157.3_5'UTR|UBE4B_ENST00000253251.8_Missense_Mutation_p.M106I	NM_001105562.2	NP_001099032.1	O95155	UBE4B_HUMAN	ubiquitination factor E4B	106					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding	p.M106I(2)		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)		CCCAGAGCATGGATATCGATG	0.448000													33	78					0	0	0.021022	0	0
LAMB3	3914	broad.mit.edu	37	1	209801421	209801421	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr1:209801421C>A	ENST00000391911.1	-	10	1636	c.1247G>T	c.(1246-1248)gGc>gTc	p.G416V	LAMB3_ENST00000356082.4_Missense_Mutation_p.G416V|LAMB3_ENST00000367030.3_Missense_Mutation_p.G416V	NM_001017402.1	NP_001017402.1	Q13751	LAMB3_HUMAN	laminin, beta 3	416	Laminin EGF-like 3.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity	p.G416V(1)		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)		TCCAGTGAAGCCCGGCTTGCA	0.672000											OREG0014217	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	12					0.000602214	0.000641788	0.014758	1	0
ACKR2	1238	broad.mit.edu	37	3	42906917	42906917	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr3:42906917C>T	ENST00000422265.1	+	3	1098	c.923C>T	c.(922-924)tCc>tTc	p.S308F	CYP8B1_ENST00000437102.1_Intron|ACKR2_ENST00000273145.2_Missense_Mutation_p.S308F|ACKR2_ENST00000471537.1_Intron|KRBOX1_ENST00000426937.1_Intron|ACKR2_ENST00000442925.1_Missense_Mutation_p.S308F	NM_001296.4	NP_001287.2			atypical chemokine receptor 2									p.S308F(1)									TGCTGCTTTTCCCCCATCCTG	0.577000													39	205					0	0	0.036044	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144931038	144931038	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr1:144931038G>C	ENST00000529945.1	-	1	1110	c.671C>G	c.(670-672)aCa>aGa	p.T224R	PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000369349.3_Intron|PDE4DIP_ENST00000369354.3_Intron|PDE4DIP_ENST00000369351.3_Intron|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.T224R|PDE4DIP_ENST00000479408.2_Intron|PDE4DIP_ENST00000313382.9_Intron			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	0					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	p.T224R(1)		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)		GGGTACCTTTGTGCTTGCTAA	0.552000			T	PDGFRB	MPD								17	168					0	0	0.038395	0	0
GCN1L1	10985	broad.mit.edu	37	12	120613618	120613618	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr12:120613618G>C	ENST00000300648.6	-	11	985	c.973C>G	c.(973-975)Ctg>Gtg	p.L325V		NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	325					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	p.L325V(1)		NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGGCGTGCCAGGTTCCGCAGT	0.572000													21	31					0	0	0.016522	0	0
LAMB2	3913	broad.mit.edu	37	3	49165960	49165960	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr3:49165960G>C	ENST00000418109.1	-	16	2113	c.1949C>G	c.(1948-1950)gCc>gGc	p.A650G	LAMB2_ENST00000305544.4_Missense_Mutation_p.A650G	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	650	Laminin IV type B.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity	p.A650C(1)		NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CAGGCTGTGGGCAGGCACAGG	0.587000													10	55					0	0	0.020292	0	0
GRM7	2917	broad.mit.edu	37	3	7620718	7620718	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr3:7620718T>A	ENST00000486284.1	+	8	2399	c.2125T>A	c.(2125-2127)Tta>Ata	p.L709I	GRM7_ENST00000402647.2_Missense_Mutation_p.L709I|GRM7_ENST00000357716.4_Missense_Mutation_p.L709I|GRM7_ENST00000389336.4_Missense_Mutation_p.L709I|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000403881.1_Missense_Mutation_p.L709I	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	709					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	p.L709I(1)		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)	CACTTCCAGTTTAATATCAGT	0.418000													5	60					0	0	0.029380	0	0
ZNF221	7638	broad.mit.edu	37	19	44470819	44470819	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr19:44470819A>T	ENST00000251269.5	+	6	1493	c.1165A>T	c.(1165-1167)Aca>Tca	p.T389S	ZNF221_ENST00000592350.1_Missense_Mutation_p.T389S|ZNF221_ENST00000587682.1_Missense_Mutation_p.T389S	NM_013359.2	NP_037491.2	Q9UK13	ZN221_HUMAN	zinc finger protein 221	389					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T389S(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	30		Prostate(69;0.0352)				GATGGTCCACACAGGAGAGAA	0.413000													42	111					0	0	0.030466	0	0
GNLY	10578	broad.mit.edu	37	2	85924772	85924772	+	Silent	SNP	G	G	A			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr2:85924772G>A	ENST00000409696.3	+	5	636	c.354G>A	c.(352-354)gaG>gaA	p.E118E	GNLY_ENST00000263863.4_Silent_p.E133E|GNLY_ENST00000524600.1_Silent_p.E160E	NM_012483.2	NP_036615.2	P22749	GNLY_HUMAN	granulysin	133	Saposin B-type.				cellular defense response|defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space		p.E133E(1)		endometrium(4)|kidney(10)|large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(1)	19						AGATCTGTGAGGACCTCAGGT	0.542000													29	59					0	0	0.041601	0	0
CST9	128822	broad.mit.edu	37	20	23586393	23586393	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr20:23586393C>A	ENST00000376971.3	-	1	120	c.109G>T	c.(109-111)Ggt>Tgt	p.G37C		NM_001008693.2	NP_001008693.2	Q5W186	CST9_HUMAN	cystatin 9 (testatin)	37						extracellular region	cysteine-type endopeptidase inhibitor activity	p.G37C(1)		central_nervous_system(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12	Colorectal(13;0.0993)					TTATTATTACCACCCATTTCC	0.517000													52	227					1.4374e-25	2.26224e-25	0.048971	1	0
ITGA8	8516	broad.mit.edu	37	10	15573137	15573137	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr10:15573137G>A	ENST00000378076.3	-	28	3247	c.2894C>T	c.(2893-2895)cCc>cTc	p.P965L		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	965					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	p.P965L(1)		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						AAGAGCATAGGGATCATTTTT	0.333000													36	98					0	0	0.023175	0	0
DIO3	1735	broad.mit.edu	37	14	102028497	102028497	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr14:102028497C>A	ENST00000510508.4	+	1	810	c.664C>A	c.(664-666)Ctg>Atg	p.L222M	DIO3_ENST00000359323.3_Missense_Mutation_p.L196M			P55073	IOD3_HUMAN	deiodinase, iodothyronine, type III	196					cellular nitrogen compound metabolic process|hormone biosynthetic process	endosome membrane|integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity	p.S221_L222>RM(1)|p.S195_L196>RM(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22		all_neural(303;0.185)				GCACCGGAGCCTGGAGGACCG	0.652000													41	180					8.00217e-19	1.1614e-18	0.048971	1	0
PDS5B	23047	broad.mit.edu	37	13	33344830	33344830	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr13:33344830A>T	ENST00000315596.10	+	33	4289	c.4103A>T	c.(4102-4104)cAg>cTg	p.Q1368L		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	1368					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding	p.Q1368L(1)		NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		GAATCCACACAGTCCACACCA	0.368000													4	20					0	0	0.029380	0	0
STIP1	10963	broad.mit.edu	37	11	63964764	63964764	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr11:63964764G>A	ENST00000358794.5	+	6	1388	c.835G>A	c.(835-837)Ggg>Agg	p.G279R	STIP1_ENST00000305218.4_Missense_Mutation_p.G232R|STIP1_ENST00000538945.1_Missense_Mutation_p.G208R			P31948	STIP1_HUMAN	stress-induced-phosphoprotein 1	232					axon guidance|response to stress	Golgi apparatus|nucleus		p.G232R(1)		endometrium(4)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(1)|skin(1)	27						AAAAGAGCTGGGGAACGATGC	0.433000													17	43					0	0	0.049695	0	0
ZNF716	441234	broad.mit.edu	37	7	57529433	57529433	+	Silent	SNP	C	C	A			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr7:57529433C>A	ENST00000420713.1	+	4	1378	c.1266C>A	c.(1264-1266)acC>acA	p.T422T		NM_001159279.1	NP_001152751.1			zinc finger protein 716									p.T422T(2)		breast(1)|kidney(1)|lung(20)|ovary(2)	24						GCTCCTCAACCCTTAAGAAAC	0.383000													5	36					2.0095e-06	2.23744e-06	0.029380	1	0
TTLL10	254173	broad.mit.edu	37	1	1118337	1118337	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr1:1118337C>T	ENST00000379290.1	+	11	1171	c.998C>T	c.(997-999)gCc>gTc	p.A333V	TTLL10_ENST00000379288.3_Missense_Mutation_p.A260V|TTLL10_ENST00000379289.1_Missense_Mutation_p.A333V			Q6ZVT0	TTL10_HUMAN	tubulin tyrosine ligase-like family, member 10	333	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity	p.A260V(1)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1)	7	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;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GAGGAAGTTGCCGCCCTGCAG	0.662000													3	16					0	0	0.004672	0	0
CSMD1	64478	broad.mit.edu	37	8	3889486	3889486	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr8:3889486G>A	ENST00000602557.1	-	4	1106	c.551C>T	c.(550-552)aCc>aTc	p.T184I	CSMD1_ENST00000542608.1_Missense_Mutation_p.T184I|CSMD1_ENST00000400186.3_Missense_Mutation_p.T184I|CSMD1_ENST00000537824.1_Missense_Mutation_p.T184I|CSMD1_ENST00000539096.1_Missense_Mutation_p.T184I|CSMD1_ENST00000520002.1_Missense_Mutation_p.T184I|CSMD1_ENST00000602723.1_Missense_Mutation_p.T184I			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	184	Sushi 1.					integral to membrane		p.T184I(1)		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)		GACGATGCAGGTCAGGATGGC	0.552000													7	33					0	0	0.008291	0	0
THEMIS	387357	broad.mit.edu	37	6	128134393	128134393	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr6:128134393C>A	ENST00000368250.1	-	5	1654	c.1156G>T	c.(1156-1158)Gat>Tat	p.D386Y	THEMIS_ENST00000543064.1_Missense_Mutation_p.D465Y|THEMIS_ENST00000368248.2_Missense_Mutation_p.D465Y|THEMIS_ENST00000537166.1_Missense_Mutation_p.D430Y			Q8N1K5	THMS1_HUMAN	thymocyte selection associated	465	CABIT 2.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus		p.D465Y(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						ATGGAAAGATCCCTGACAGAC	0.468000													31	58					4.34311e-12	5.54787e-12	0.059317	1	0
PHACTR3	116154	broad.mit.edu	37	20	58322818	58322818	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr20:58322818G>C	ENST00000371015.1	+	3	753	c.286G>C	c.(286-288)Gag>Cag	p.E96Q	PHACTR3_ENST00000541461.1_Missense_Mutation_p.E55Q|PHACTR3_ENST00000395639.4_Missense_Mutation_p.E55Q|PHACTR3_ENST00000355648.4_Missense_Mutation_p.E55Q|PHACTR3_ENST00000395636.2_Missense_Mutation_p.E55Q|PHACTR3_ENST00000359926.3_Missense_Mutation_p.E93Q|PHACTR3_ENST00000361300.4_Missense_Mutation_p.E55Q	NM_080672.3	NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	96						nuclear matrix	actin binding|protein phosphatase inhibitor activity	p.E96Q(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			GGCAGCGCTGGAGAAGAAGAT	0.587000													48	187					0	0	0.048971	0	0
ZNF718	255403	broad.mit.edu	37	4	155375	155375	+	RNA	SNP	A	A	T			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr4:155375A>T	ENST00000510175.1	+	0	810							Q3SXZ3	ZN718_HUMAN	zinc finger protein 718						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)		CCCTTAATGAACATAAGAGAA	0.368000													6	25					0	0	0.021553	0	0
OR1D5	8386	broad.mit.edu	37	17	2966252	2966252	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr17:2966252G>T	ENST00000575751.1	-	1	649	c.650C>A	c.(649-651)tCc>tAc	p.S217Y		NM_014566.1	NP_055381.1	P58170	OR1D5_HUMAN	olfactory receptor, family 1, subfamily D, member 5	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S217F(4)|p.S217Y(2)		kidney(1)|lung(10)	11						ACGTACATAGGATGTGGTCAT	0.507000													12	50					9.31168e-06	1.02456e-05	0.016723	1	0
KRTAP4-2	85291	broad.mit.edu	37	17	39334304	39334304	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr17:39334304G>A	ENST00000377726.2	-	1	156	c.113C>T	c.(112-114)cCc>cTc	p.P38L		NM_033062.3	NP_149051.1	Q9BYR5	KRA42_HUMAN	keratin associated protein 4-2	38	20 X 5 AA repeats OF C-C-[GRQVS]-[SPT]- [VSTQ].					keratin filament		p.P155L(1)|p.P38L(1)		kidney(2)|lung(4)|upper_aerodigestive_tract(1)	7		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			ACAGCAGCTGGGGCGGCAGCA	0.657000													20	69					0	0	0.023175	0	0
LRRC27	80313	broad.mit.edu	37	10	134188652	134188652	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr10:134188652G>A	ENST00000368610.3	+	10	1313	c.1313G>A	c.(1312-1314)gGa>gAa	p.G438E	LRRC27_ENST00000368612.1_Missense_Mutation_p.G438E|LRRC27_ENST00000368614.3_Missense_Mutation_p.G500E|LRRC27_ENST00000392638.2_3'UTR|LRRC27_ENST00000368613.4_Missense_Mutation_p.G500E|LRRC27_ENST00000475747.1_3'UTR			Q9C0I9	LRC27_HUMAN	leucine rich repeat containing 27	500								p.G500E(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		GCCCTCACTGGAAACCTTTCG	0.468000													4	74					0	0	0.021553	0	0
PPCS	79717	broad.mit.edu	37	1	42922700	42922700	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr1:42922700A>G	ENST00000372561.3	+	1	471	c.464A>G	c.(463-465)tAt>tGt	p.Y155C	PPCS_ENST00000372556.3_Intron|PPCS_ENST00000372562.1_Intron|PPCS_ENST00000372560.3_Missense_Mutation_p.Y155C|PPCS_ENST00000472013.1_3'UTR|PPCS_ENST00000455780.1_Intron	NM_024664.2	NP_078940.2	Q9HAB8	PPCS_HUMAN	phosphopantothenoylcysteine synthetase	155					coenzyme biosynthetic process|pantothenate metabolic process	cytosol	phosphopantothenate--cysteine ligase activity	p.Y155C(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|skin(3)	12	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TTGGCGGACTATTTGCATCTG	0.582000													21	54					0	0	0.018920	0	0
DET1	55070	broad.mit.edu	37	15	89070888	89070888	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr15:89070888C>T	ENST00000564406.1	-	4	1406	c.1246G>A	c.(1246-1248)Gaa>Aaa	p.E416K	DET1_ENST00000268148.8_Missense_Mutation_p.E405K|DET1_ENST00000444300.1_Missense_Mutation_p.E416K	NM_017996.3	NP_060466.2	Q7L5Y6	DET1_HUMAN	de-etiolated homolog 1 (Arabidopsis)	405						nucleus		p.E416K(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Lung NSC(78;0.105)|all_lung(78;0.182)		BRCA - Breast invasive adenocarcinoma(143;0.188)			AACTGAACTTCACTGTGCAGG	0.448000													17	40					0	0	0.014323	0	0
LGR5	8549	broad.mit.edu	37	12	71978097	71978097	+	Silent	SNP	C	C	T			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr12:71978097C>T	ENST00000266674.5	+	18	2618	c.2307C>T	c.(2305-2307)gcC>gcT	p.A769A	LGR5_ENST00000536515.1_Silent_p.A697A|LGR5_ENST00000540815.2_Silent_p.A745A			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	769						integral to plasma membrane	protein-hormone receptor activity	p.A769A(1)	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						AACACATTGCCCTGTTGCTCT	0.433000													104	143					0	0	0.048971	0	0
AXIN2	8313	broad.mit.edu	37	17	63534419	63534419	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr17:63534419C>G	ENST00000307078.5	-	5	1415	c.1102G>C	c.(1102-1104)Gcc>Ccc	p.A368P	AXIN2_ENST00000375702.5_Missense_Mutation_p.A368P|CTD-2535L24.2_ENST00000577662.1_3'UTR	NM_004655.3	NP_004646.3	Q9Y2T1	AXIN2_HUMAN	axin 2	368	Interaction with GSK3B (By similarity).				cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding	p.A368P(1)		NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						GCAAAGGTGGCGGGTTCCACG	0.627000									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome				16	67					0	0	0.033300	0	0
SEMA3A	10371	broad.mit.edu	37	7	83610721	83610721	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr7:83610721G>C	ENST00000265362.3	-	14	1882	c.1568C>G	c.(1567-1569)gCg>gGg	p.A523G	SEMA3A_ENST00000436949.1_Missense_Mutation_p.A523G	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	523					axon guidance	extracellular region|membrane	receptor activity	p.A523G(1)		breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						CTCAGCACACGCTTTCCCGTA	0.483000													11	20					0	0	0.016723	0	0
C1orf127	148345	broad.mit.edu	37	1	11008316	11008316	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr1:11008316G>A	ENST00000377004.4	-	12	1875	c.1876C>T	c.(1876-1878)Cgc>Tgc	p.R626C	C1orf127_ENST00000377008.4_Missense_Mutation_p.R459C	NM_001170754.1	NP_001164225.1	B7ZLG7	B7ZLG7_HUMAN	chromosome 1 open reading frame 127	477								p.R459C(1)|p.R626C(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		CCTGTCTGGCGTGGCCTCTCC	0.657000													24	140					0	0	0.037714	0	0
ARFIP2	23647	broad.mit.edu	37	11	6500372	6500372	+	Nonsense_Mutation	SNP	T	T	A			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr11:6500372T>A	ENST00000254584.2	-	4	396	c.313A>T	c.(313-315)Aag>Tag	p.K105*	ARFIP2_ENST00000445086.2_Intron|ARFIP2_ENST00000396777.3_Nonsense_Mutation_p.K105*|ARFIP2_ENST00000423813.2_Nonsense_Mutation_p.K67*|ARFIP2_ENST00000525235.1_Nonsense_Mutation_p.K105*	NM_012402.3	NP_036534.1	P53365	ARFP2_HUMAN	ADP-ribosylation factor interacting protein 2	105					actin cytoskeleton organization|cellular component movement|lamellipodium assembly|ruffle organization|small GTPase mediated signal transduction	cell cortex|plasma membrane|ruffle	GTP binding|GTP-dependent protein binding|Rac GTPase binding	p.K105*(1)		endometrium(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(2)	15		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;3.41e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AATCCTACCTTATAGGTGTTG	0.488000													23	92					0	0	0.021523	0	0
ZNF664	144348	broad.mit.edu	37	12	124496938	124496938	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr12:124496938G>T	ENST00000539644.1	+	6	2077	c.247G>T	c.(247-249)Gtg>Ttg	p.V83L	RP11-522N14.1_ENST00000540762.1_RNA|ZNF664_ENST00000538932.2_Missense_Mutation_p.V83L|ZNF664_ENST00000337815.4_Missense_Mutation_p.V83L|ZNF664_ENST00000392404.3_Missense_Mutation_p.V83L			Q8N3J9	ZN664_HUMAN	zinc finger protein 664	83					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.V83L(1)		breast(1)|large_intestine(5)|lung(6)|skin(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.000239)|OV - Ovarian serous cystadenocarcinoma(86;0.000247)|all cancers(50;0.00155)|BRCA - Breast invasive adenocarcinoma(302;0.249)		AATCCACACAGTGGAGAAGCC	0.388000													70	88					1.58458e-29	2.56978e-29	0.048971	1	0
PCDHB4	56131	broad.mit.edu	37	5	140502904	140502904	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr5:140502904G>T	ENST00000194152.1	+	1	1324	c.1324G>T	c.(1324-1326)Gac>Tac	p.D442Y		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		442	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	p.D442Y(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCAGGTCTCCGACGTCAATGA	0.607000													36	162					6.86731e-36	1.14866e-35	0.027894	1	0
MME	4311	broad.mit.edu	37	3	154884701	154884701	+	Silent	SNP	C	C	A			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr3:154884701C>A	ENST00000460393.1	+	18	1791	c.1671C>A	c.(1669-1671)gcC>gcA	p.A557A	MME-AS1_ENST00000484721.1_RNA|MME_ENST00000492661.1_Silent_p.A557A|MME_ENST00000360490.2_Silent_p.A557A|MME_ENST00000493237.1_Silent_p.A557A|MME_ENST00000462745.1_Silent_p.A557A	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	557					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	p.A557A(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	TCTTCCCAGCCGGCATTCTGC	0.463000													38	122					1.69901e-12	2.18528e-12	0.023175	1	0
KCNQ2	3785	broad.mit.edu	37	20	62038665	62038665	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr20:62038665G>A	ENST00000354587.3	-	17	2151	c.1975C>T	c.(1975-1977)Ccc>Tcc	p.P659S	KCNQ2_ENST00000370226.1_Missense_Mutation_p.P621S|KCNQ2_ENST00000359689.1_Missense_Mutation_p.P651S|KCNQ2_ENST00000370224.1_Missense_Mutation_p.P659S|KCNQ2_ENST00000359125.2_Missense_Mutation_p.P651S|KCNQ2_ENST00000360480.3_Missense_Mutation_p.P623S|KCNQ2_ENST00000357249.2_Missense_Mutation_p.P633S|KCNQ2_ENST00000430658.1_Missense_Mutation_p.P620S|KCNQ2_ENST00000344462.3_Missense_Mutation_p.P647S			O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	651					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.P651S(1)		biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	TCTGTCGGGGGGATGCCCATC	0.647000													17	58					0	0	0.043863	0	0
ITGA6	3655	broad.mit.edu	37	2	173340413	173340413	+	Splice_Site	SNP	G	G	A			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr2:173340413G>A	ENST00000375221.2	+	9	1589	c.1386_splice	c.e9+1	p.Q462_splice	ITGA6_ENST00000264106.6_Splice_Site_p.Q462_splice|ITGA6_ENST00000409532.1_Splice_Site_p.Q304_splice|ITGA6_ENST00000264107.7_Splice_Site_p.Q423_splice|ITGA6_ENST00000409080.1_Splice_Site_p.Q423_splice|ITGA6_ENST00000343713.4_Splice_Site_p.Q418_splice			P23229	ITA6_HUMAN	integrin, alpha 6	462					blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity	p.Q423Q(2)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			AACCAACACAGGTAACCAAAT	0.343000													38	97					0	0	0.021022	0	0
MYH8	4626	broad.mit.edu	37	17	10314198	10314198	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr17:10314198G>T	ENST00000403437.2	-	15	1577	c.1483C>A	c.(1483-1485)Cac>Aac	p.H495N	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	495	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	p.H495N(1)		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						ACAAACATGTGGTGGTTGAAA	0.448000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				50	148					2.29192e-23	3.53258e-23	0.048971	1	0
IGF2BP2	10644	broad.mit.edu	37	3	185363402	185363402	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr3:185363402G>A	ENST00000382199.2	-	16	1812	c.1717C>T	c.(1717-1719)Cgc>Tgc	p.R573C	IGF2BP2_ENST00000457616.2_Missense_Mutation_p.R579C|IGF2BP2_ENST00000421047.2_Missense_Mutation_p.R516C|IGF2BP2_ENST00000346192.3_Missense_Mutation_p.R530C	NM_006548.4	NP_006539.3	Q9Y6M1	IF2B2_HUMAN	insulin-like growth factor 2 mRNA binding protein 2	573	KH 4.				anatomical structure morphogenesis|negative regulation of translation	cytoskeletal part|cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity	p.R573C(1)		breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	20	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			CTGATCTTGCGCTGTGCAGTC	0.577000													11	106					0	0	0.016723	0	0
DDX50	79009	broad.mit.edu	37	10	70666761	70666761	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr10:70666761G>T	ENST00000373585.3	+	2	489	c.382G>T	c.(382-384)Gag>Tag	p.E128*		NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 50	128						nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding	p.E128*(1)		breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						TAAACTAGAGGAGGTATGGAA	0.274000													20	79					2.37509e-13	3.13042e-13	0.055883	1	0
SPAST	6683	broad.mit.edu	37	2	32289089	32289089	+	Silent	SNP	G	G	T			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr2:32289089G>T	ENST00000315285.3	+	1	314	c.189G>T	c.(187-189)ctG>ctT	p.L63L	SPAST_ENST00000345662.1_Silent_p.L63L	NM_014946.3	NP_055761.2	Q9UBP0	SPAST_HUMAN	spastin	63	Required for interaction with ATL1.|Required for interaction with RTN1.|Required for interaction with SSNA1 and microtubules.|Required for midbody localization.				cell cycle|cell death|cell differentiation|cytokinesis, completion of separation|ER to Golgi vesicle-mediated transport|microtubule bundle formation|microtubule severing|nervous system development|protein hexamerization|protein homooligomerization	endoplasmic reticulum|endosome|integral to membrane|microtubule|microtubule organizing center|nucleus|perinuclear region of cytoplasm|spindle	alpha-tubulin binding|ATP binding|beta-tubulin binding|microtubule binding|microtubule-severing ATPase activity	p.L63L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					GCTTCGCGCTGCTGCGTTTGG	0.701000													13	39					1.5739e-10	1.97001e-10	0.028581	1	0
VPS13B	157680	broad.mit.edu	37	8	100454673	100454673	+	Silent	SNP	G	G	T			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr8:100454673G>T	ENST00000395996.1	+	23	3366	c.3255G>T	c.(3253-3255)ctG>ctT	p.L1085L	VPS13B_ENST00000358544.2_Silent_p.L1085L|VPS13B_ENST00000357162.2_Silent_p.L1085L			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1085					protein transport			p.L1085L(2)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			ATGATAGCCTGCCTTCCCCAA	0.398000													30	60					1.90571e-15	2.61334e-15	0.019004	1	0
HRNR	388697	broad.mit.edu	37	1	152191540	152191540	+	Silent	SNP	G	G	T			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr1:152191540G>T	ENST00000368801.2	-	3	2640	c.2565C>A	c.(2563-2565)ggC>ggA	p.G855G	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	855					keratinization		calcium ion binding|protein binding	p.G855G(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGTCATGTTGGCCGGAGCTTG	0.582000													72	102					9.04243e-43	1.51929e-42	0.048971	1	0
PRPF38B	55119	broad.mit.edu	37	1	109241810	109241810	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr1:109241810G>C	ENST00000370021.1	+	7	1113	c.476G>C	c.(475-477)cGg>cCg	p.R159P	PRPF38B_ENST00000370025.4_Missense_Mutation_p.R270P			Q5VTL8	PR38B_HUMAN	pre-mRNA processing factor 38B	270					mRNA processing|RNA splicing	spliceosomal complex		p.R270P(1)		NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1)	19		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)		CTGAGTCCACGGAGGTCCCCA	0.433000													30	57					0	0	0.041601	0	0
APOB	338	broad.mit.edu	37	2	21260849	21260849	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr2:21260849G>T	ENST00000233242.1	-	5	645	c.518C>A	c.(517-519)gCc>gAc	p.A173D	APOB_ENST00000399256.4_Missense_Mutation_p.A173D	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	173	Vitellogenin.				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	p.A173D(1)		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)	CACTTGCTTGGCTTCTTCTGT	0.463000													39	131					1.00776e-21	1.53426e-21	0.048971	1	0
AMD1	262	broad.mit.edu	37	6	111214177	111214177	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr6:111214177A>T	ENST00000368885.3	+	8	1109	c.773A>T	c.(772-774)aAc>aTc	p.N258I	AMD1_ENST00000368877.5_Missense_Mutation_p.N229I|AMD1_ENST00000368876.1_Missense_Mutation_p.N189I|AMD1_ENST00000368882.3_Missense_Mutation_p.N110I|AMD1_ENST00000451850.2_Missense_Mutation_p.N138I	NM_001634.4	NP_001625.2	P17707	DCAM_HUMAN	adenosylmethionine decarboxylase 1	258					spermidine biosynthetic process|spermine biosynthetic process	cytosol	adenosylmethionine decarboxylase activity	p.N258I(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	8		all_cancers(87;3.83e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.0522)|Epithelial(106;0.111)|all cancers(137;0.143)	S-Adenosylmethionine(DB00118)	TTTGAAACAAACTTAAGTCAG	0.363000													72	70					0	0	0.048971	0	0
GKN1	56287	broad.mit.edu	37	2	69204898	69204898	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr2:69204898T>A	ENST00000377938.2	+	3	301	c.238T>A	c.(238-240)Tat>Aat	p.Y80N		NM_019617.3	NP_062563.3	Q9NS71	GKN1_HUMAN	gastrokine 1	80	BRICHOS.				digestion|positive regulation of cell division	extracellular region		p.Y80N(1)		breast(2)|large_intestine(4)|lung(5)	11						CATCTGGGATTATGGAAATGT	0.363000													27	54					0	0	0.045705	0	0
GPR158	57512	broad.mit.edu	37	10	25886829	25886829	+	Silent	SNP	T	T	C			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr10:25886829T>C	ENST00000376351.3	+	11	2633	c.2274T>C	c.(2272-2274)atT>atC	p.I758I	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	758						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.I758I(1)		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						TGAGACGCATTACGGAGATCC	0.522000													28	124					0	0	0.034045	0	0
SLC18A3	6572	broad.mit.edu	37	10	50818983	50818983	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr10:50818983G>T	ENST00000374115.3	+	1	637	c.197G>T	c.(196-198)gGg>gTg	p.G66V	CHAT_ENST00000339797.1_Intron	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	66					neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity	p.G66L(1)		endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						CACATGCGCGGGGGCGGCGAG	0.672000													5	18					2.7689e-08	3.25804e-08	0.029380	1	0
LDLRAP1	26119	broad.mit.edu	37	1	25880433	25880433	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr1:25880433G>T	ENST00000374338.4	+	2	228	c.109G>T	c.(109-111)Gac>Tac	p.D37Y	LDLRAP1_ENST00000488127.1_3'UTR	NM_015627.2	NP_056442.2	Q5SW96	ARH_HUMAN	low density lipoprotein receptor adaptor protein 1	37					amyloid precursor protein metabolic process|cholesterol homeostasis|cholesterol metabolic process|positive regulation of receptor-mediated endocytosis|receptor internalization|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport|regulation of establishment of protein localization in plasma membrane|regulation of protein binding	basal plasma membrane|cytosol|early endosome|internal side of plasma membrane|neurofilament|recycling endosome	beta-amyloid binding|clathrin binding|low-density lipoprotein particle receptor binding|phosphatidylinositol-4,5-bisphosphate binding|phosphotyrosine binding|protein binding, bridging|protein complex binding|receptor signaling complex scaffold activity|signaling adaptor activity	p.D37Y(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.63e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|GBM - Glioblastoma multiforme(114;0.00914)|READ - Rectum adenocarcinoma(331;0.0649)		GAACTGGACAGACACGCGGGA	0.647000													10	40					7.03913e-09	8.49707e-09	0.013537	1	0
ZFHX3	463	broad.mit.edu	37	16	72830619	72830619	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr16:72830619A>T	ENST00000268489.5	-	9	6634	c.5962T>A	c.(5962-5964)Tgc>Agc	p.C1988S	ZFHX3_ENST00000397992.5_Missense_Mutation_p.C1074S	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1988					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.C1988S(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				AACTTGCCGCAGGAGTCACAC	0.433000													49	165					0	0	0.048971	0	0
UBR3	130507	broad.mit.edu	37	2	170871812	170871812	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr2:170871812G>T	ENST00000272793.5	+	30	4439	c.4389G>T	c.(4387-4389)ttG>ttT	p.L1463F	UBR3_ENST00000392631.1_Missense_Mutation_p.L284F|UBR3_ENST00000418381.1_Missense_Mutation_p.L1463F|UBR3_ENST00000465630.1_3'UTR			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1463					sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding	p.L316F(1)|p.L1463F(1)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						AACTTGAATTGATTCATCGAG	0.318000													9	20					0.000442599	0.000473036	0.058154	1	0
ZNF676	163223	broad.mit.edu	37	19	22363270	22363270	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr19:22363270C>A	ENST00000397121.2	-	3	1566	c.1249G>T	c.(1249-1251)Gga>Tga	p.G417*		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	417					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G417*(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				GGTTTCTCTCCAGTATGAATT	0.433000													27	47					1.88708e-17	2.66622e-17	0.037714	1	0
GAS7	8522	broad.mit.edu	37	17	9820602	9820602	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr17:9820602C>G	ENST00000396115.1	-	14	1504	c.1194G>C	c.(1192-1194)gaG>gaC	p.E398D	GAS7_ENST00000583882.1_Intron|GAS7_ENST00000323816.4_Missense_Mutation_p.E394D|GAS7_ENST00000432992.2_Missense_Mutation_p.E458D|GAS7_ENST00000542249.1_Missense_Mutation_p.E403D|GAS7_ENST00000585266.1_Missense_Mutation_p.E394D|GAS7_ENST00000540214.1_Missense_Mutation_p.E163D|GAS7_ENST00000580865.1_Missense_Mutation_p.E318D|GAS7_ENST00000437099.2_Missense_Mutation_p.E394D|GAS7_ENST00000579158.1_Missense_Mutation_p.E410D	NM_201432.1	NP_958836.1	O60861	GAS7_HUMAN	growth arrest-specific 7	458					cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity	p.E318D(1)|p.E458D(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						TGACCCACAGCTCCCTGTCTT	0.612000			T	MLL	AML*								36	95					0	0	0.036044	0	0
LRRC40	55631	broad.mit.edu	37	1	70641659	70641659	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr1:70641659G>A	ENST00000370952.3	-	7	890	c.811C>T	c.(811-813)Cac>Tac	p.H271Y		NM_017768.4	NP_060238.3	Q9H9A6	LRC40_HUMAN	leucine rich repeat containing 40	271								p.H271Y(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(2)	27						TCACCTACGTGCAATTCCTAC	0.308000													4	47					0	0	0.014758	0	0
APOB	338	broad.mit.edu	37	2	21246397	21246397	+	Splice_Site	SNP	G	G	T			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr2:21246397G>T	ENST00000233242.1	-	17	2731	c.2604_splice	c.e17+1	p.N868_splice		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	868					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	p.N868K(1)		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)	AGAATCTTACGTTGGCTACTT	0.403000													26	82					1.74197e-06	1.95122e-06	0.030593	1	0
LRRN2	10446	broad.mit.edu	37	1	204587527	204587527	+	Silent	SNP	G	G	T			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr1:204587527G>T	ENST00000367175.1	-	1	3806	c.1594C>A	c.(1594-1596)Cgg>Agg	p.R532R	LRRN2_ENST00000367177.3_Silent_p.R532R|LRRN2_ENST00000367176.3_Silent_p.R532R			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	532					cell adhesion	integral to membrane	receptor activity	p.R532R(1)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			TCCTGCACCCGGAGCTCCAGC	0.637000													37	70					6.19805e-25	9.67311e-25	0.023175	1	0
SLCO1A2	6579	broad.mit.edu	37	12	21457403	21457403	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr12:21457403T>C	ENST00000307378.6	-	7	1267	c.547A>G	c.(547-549)Ata>Gta	p.I183V	SLCO1A2_ENST00000452078.1_Missense_Mutation_p.I183V|SLCO1A2_ENST00000537524.1_Missense_Mutation_p.I51V|SLCO1A2_ENST00000458504.1_Missense_Mutation_p.I51V|SLCO1A2_ENST00000390670.3_Missense_Mutation_p.I181V	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	183					bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	p.I183V(1)		breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						AAATCTTCTATATAGGAAATA	0.363000													33	43					0	0	0.050027	0	0
DIDO1	11083	broad.mit.edu	37	20	61542643	61542643	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr20:61542643C>A	ENST00000266070.4	-	3	647	c.322G>T	c.(322-324)Gag>Tag	p.E108*	DIDO1_ENST00000395335.2_Nonsense_Mutation_p.E108*|DIDO1_ENST00000395340.1_Nonsense_Mutation_p.E108*|DIDO1_ENST00000370368.1_Nonsense_Mutation_p.E108*|DIDO1_ENST00000395343.1_Nonsense_Mutation_p.E108*|DIDO1_ENST00000266071.5_Nonsense_Mutation_p.E108*|DIDO1_ENST00000370371.4_Nonsense_Mutation_p.E108*|DIDO1_ENST00000354665.4_Nonsense_Mutation_p.E108*|DIDO1_ENST00000370366.1_Nonsense_Mutation_p.E108*	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	108					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	p.E108*(2)		NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GAGGCTGTCTCGGCGTCTGTG	0.642000													10	29					1.5842e-08	1.88788e-08	0.016723	1	0
MAGEB16	139604	broad.mit.edu	37	X	35820818	35820818	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chrX:35820818G>T	ENST00000399989.1	+	2	784	c.505G>T	c.(505-507)Gat>Tat	p.D169Y	MAGEB16_ENST00000399987.1_Missense_Mutation_p.D169Y|MAGEB16_ENST00000399988.1_Missense_Mutation_p.D169Y|MAGEB16_ENST00000399992.1_Missense_Mutation_p.D201Y|MAGEB16_ENST00000399985.1_Missense_Mutation_p.D169Y	NM_001099921.1	NP_001093391.1	A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	169	MAGE.							p.D336Y(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						ATTTGGCCTTGATGTGGTGGA	0.488000													43	44					5.78141e-17	8.13761e-17	0.045515	1	0
GCKR	2646	broad.mit.edu	37	2	27731038	27731038	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr2:27731038C>A	ENST00000264717.2	+	16	1405	c.1342C>A	c.(1342-1344)Cct>Act	p.P448T	GCKR_ENST00000424318.2_Missense_Mutation_p.P258T	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN	glucokinase (hexokinase 4) regulator	448	SIS 2.				carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding	p.P448N(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					TCTCCAGATCCCTCTGAAGAA	0.532000													18	81					9.16793e-09	1.09604e-08	0.033300	1	0
KIAA0556	23247	broad.mit.edu	37	16	27772805	27772805	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr16:27772805G>T	ENST00000261588.4	+	19	3722	c.3703G>T	c.(3703-3705)Ggc>Tgc	p.G1235C		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	1235								p.G1235C(2)		breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						GGAAGTGGTGGGCAAGGAGGG	0.602000													11	55					1.58986e-06	1.7862e-06	0.008291	1	0
SEMA6D	80031	broad.mit.edu	37	15	48063266	48063266	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr15:48063266G>T	ENST00000316364.5	+	19	2945	c.2506G>T	c.(2506-2508)Gac>Tac	p.D836Y	SEMA6D_ENST00000536845.2_Missense_Mutation_p.D836Y|SEMA6D_ENST00000537942.1_Missense_Mutation_p.D774Y|SEMA6D_ENST00000355997.3_3'UTR|SEMA6D_ENST00000358066.4_Missense_Mutation_p.D774Y|SEMA6D_ENST00000558816.1_3'UTR|SEMA6D_ENST00000558014.1_Missense_Mutation_p.D774Y|SEMA6D_ENST00000354744.4_Missense_Mutation_p.D780Y|SEMA6D_ENST00000389433.2_Missense_Mutation_p.D817Y|SEMA6D_ENST00000389428.3_Missense_Mutation_p.D761Y|SEMA6D_ENST00000389432.2_Missense_Mutation_p.D793Y	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	836					axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	p.D774Y(1)|p.D836Y(1)		biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		TGCTACCCATGACTACAACAC	0.443000													40	93					1.57019e-19	2.30584e-19	0.030466	1	0
KCNK10	54207	broad.mit.edu	37	14	88652442	88652442	+	Silent	SNP	G	G	T			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr14:88652442G>T	ENST00000340700.5	-	7	1505	c.1054C>A	c.(1054-1056)Cgg>Agg	p.R352R	KCNK10_ENST00000319231.5_Silent_p.R357R|KCNK10_ENST00000312350.5_Silent_p.R357R	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	352					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity	p.R357R(2)|p.R352R(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						CGTGTCTCCCGGAACTCAGCC	0.622000													3	17					0.000157383	0.00016869	0.038147	1	0
IRF8	3394	broad.mit.edu	37	16	85945192	85945192	+	Silent	SNP	A	A	T			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr16:85945192A>T	ENST00000268638.5	+	4	797	c.375A>T	c.(373-375)gcA>gcT	p.A125A		NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN	interferon regulatory factor 8	125					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	p.A125A(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				TAGGCGTGGCAACTGCTGGCT	0.507000													7	56					0	0	0.016723	0	0
HOMEZ	57594	broad.mit.edu	37	14	23746238	23746238	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr14:23746238T>A	ENST00000357460.5	-	2	363	c.199A>T	c.(199-201)Aat>Tat	p.N67Y	HOMEZ_ENST00000561013.1_Missense_Mutation_p.N69Y|HOMEZ_ENST00000431326.2_Missense_Mutation_p.N69Y	NM_020834.2	NP_065885.2	Q8IX15	HOMEZ_HUMAN	homeobox and leucine zipper encoding	67						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.N67Y(1)|p.N43Y(1)		endometrium(5)|lung(7)	12	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00643)		AGGTGTTCATTGCTGTCTAGC	0.527000													23	92					0	0	0.016522	0	0
GRAMD4	23151	broad.mit.edu	37	22	47058939	47058939	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr22:47058939C>T	ENST00000406902.1	+	6	682	c.469C>T	c.(469-471)Cgc>Tgc	p.R157C	GRAMD4_ENST00000361034.3_Missense_Mutation_p.R157C			Q6IC98	GRAM4_HUMAN	GRAM domain containing 4	157					apoptosis	integral to membrane|mitochondrial membrane		p.R157C(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	12		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)		CCCTGCAGAGCGCCGGAGCCA	0.677000													26	46					0	0	0.059317	0	0
GPIHBP1	338328	broad.mit.edu	37	8	144297309	144297309	+	Silent	SNP	C	C	T			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr8:144297309C>T	ENST00000330824.2	+	4	546	c.471C>T	c.(469-471)ccC>ccT	p.P157P		NM_178172.3	NP_835466.1	Q8IV16	HDBP1_HUMAN	glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1	157					cholesterol homeostasis|intracellular protein transport|positive regulation of chylomicron remnant clearance|positive regulation of lipoprotein lipase activity|protein import|protein localization at cell surface|protein stabilization|response to heparin|triglyceride homeostasis	anchored to external side of plasma membrane|apical plasma membrane|basolateral plasma membrane|high-density lipoprotein particle|integral to membrane|intracellular	apolipoprotein binding|chylomicron binding|lipase binding|lipid binding|protein transmembrane transporter activity	p.P157P(1)		lung(2)	2	all_cancers(97;6.49e-11)|all_epithelial(106;2.77e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					CAGGCGGCCCCCGGGGCAGCT	0.692000													31	54					0	0	0.045705	0	0
PCDHA6	56142	broad.mit.edu	37	5	140207895	140207895	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr5:140207895C>A	ENST00000529310.1	+	1	333	c.219C>A	c.(217-219)gaC>gaA	p.D73E	PCDHA6_ENST00000527624.1_Missense_Mutation_p.D73E|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1												p.D73E(2)		NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCGCGAGGACCTTCTGGAGG	0.632000													90	263					1.37074e-43	2.32403e-43	0.048971	1	0
RASGRF2	5924	broad.mit.edu	37	5	80503114	80503114	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr5:80503114T>C	ENST00000265080.4	+	21	3084	c.3017T>C	c.(3016-3018)cTg>cCg	p.L1006P	CTC-281B15.1_ENST00000503483.2_RNA	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	1006	Ras-GEF.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity	p.L1006P(1)		biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		GCCATGGAGCTGGCAGAACAG	0.572000													5	70					0	0	0.014758	0	0
DCHS2	54798	broad.mit.edu	37	4	155278377	155278377	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr4:155278377T>G	ENST00000357232.3	-	6	793	c.794A>C	c.(793-795)cAc>cCc	p.H265P	DCHS2_ENST00000339452.1_Intron	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	265	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.H265P(1)		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)		ctacttgaagtgccttagcag	0.403000													52	140					0	0	0.048971	0	0
WRN	7486	broad.mit.edu	37	8	30999102	30999102	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr8:30999102G>C	ENST00000298139.5	+	25	3373	c.3124G>C	c.(3124-3126)Gcc>Ccc	p.A1042P		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	1042					base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding	p.A1042P(1)		central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		GAAGATTTGCGCCCTTACGAA	0.403000			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				18	47					0	0	0.055883	0	0
POLR2A	5430	broad.mit.edu	37	17	7405880	7405880	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr17:7405880G>A	ENST00000322644.6	+	16	3015	c.2616G>A	c.(2614-2616)atG>atA	p.M872I		NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	872					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding	p.M872I(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				AGTCAGTGATGGTGAAGTACG	0.582000													19	63					0	0	0.055883	0	0
SPATA31D5P	347127	broad.mit.edu	37	9	84530750	84530750	+	RNA	SNP	C	C	A			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr9:84530750C>A	ENST00000527857.1	+	0	772					NR_026851.1																						CCCCTTTTCCCACCGCATCAC	0.532000													48	96					1.61863e-15	2.2361e-15	0.048971	1	0
SEMA6C	10500	broad.mit.edu	37	1	151110269	151110269	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr1:151110269T>A	ENST00000341697.3	-	10	2365	c.674A>T	c.(673-675)cAc>cTc	p.H225L				Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	225	Sema.					integral to membrane	receptor activity	p.H225L(1)		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)			CTGGACAAAGTGTGGCTCTAA	0.547000													37	137					0	0	0.019004	0	0
USP44	84101	broad.mit.edu	37	12	95927916	95927916	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr12:95927916C>A	ENST00000258499.3	-	2	405	c.117G>T	c.(115-117)tgG>tgT	p.W39C	USP44_ENST00000552440.1_Missense_Mutation_p.W39C|USP44_ENST00000537435.2_Missense_Mutation_p.W39C|USP44_ENST00000393091.2_Missense_Mutation_p.W39C	NM_001278393.1|NM_032147.2	NP_001265322.1|NP_115523.2	Q9H0E7	UBP44_HUMAN	ubiquitin specific peptidase 44	39					anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	p.W39C(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						TAAGGCAAGCCCAAATGGACT	0.507000											OREG0022039	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	28	125					2.65835e-16	3.69986e-16	0.034045	1	0
CHRND	1144	broad.mit.edu	37	2	233398943	233398943	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr2:233398943C>A	ENST00000258385.3	+	11	1294	c.1262C>A	c.(1261-1263)cCa>cAa	p.P421Q	CHRND_ENST00000543200.1_Missense_Mutation_p.P406Q|CHRND_ENST00000457943.2_Missense_Mutation_p.P227Q	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN	cholinergic receptor, nicotinic, delta (muscle)	421					muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity	p.P421Q(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)		GGCCGGCCCCCAGCAAGCTCT	0.597000													22	56					2.39556e-15	3.27306e-15	0.016522	1	0
GLRA2	2742	broad.mit.edu	37	X	14550471	14550471	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chrX:14550471C>G	ENST00000218075.4	+	2	709	c.179C>G	c.(178-180)gCa>gGa	p.A60G	GLRA2_ENST00000443437.2_5'UTR|GLRA2_ENST00000355020.4_Missense_Mutation_p.A60G	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2	60					neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity	p.A60G(2)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)	GGATATGATGCAAGAATCAGG	0.378000													20	15					0	0	0.018920	0	0
CCDC94	55702	broad.mit.edu	37	19	4267771	4267771	+	Splice_Site	SNP	G	G	T			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr19:4267771G>T	ENST00000262962.7	+	7	927	c.859_splice	c.e7+1	p.G287_splice		NM_018074.4	NP_060544.2	Q9BW85	CCD94_HUMAN	coiled-coil domain containing 94	287								p.G287*(1)		NS(1)|endometrium(1)|lung(2)|ovary(1)|stomach(2)	7				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0348)|STAD - Stomach adenocarcinoma(1328;0.183)		CCCCACCCCAGGTAAGGTCAC	0.657000											OREG0025164	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	12					8.12818e-05	8.76246e-05	0.029380	1	0
ANXA3	306	broad.mit.edu	37	4	79522696	79522696	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr4:79522696G>A	ENST00000264908.6	+	11	1142	c.763G>A	c.(763-765)Gcc>Acc	p.A255T	ANXA3_ENST00000512884.1_Missense_Mutation_p.A216T|ANXA3_ENST00000503570.2_Missense_Mutation_p.A216T	NM_005139.2	NP_005130.1	P12429	ANXA3_HUMAN	annexin A3	255					defense response to bacterium|neutrophil degranulation|phagocytosis|positive regulation of angiogenesis|positive regulation of endothelial cell migration|positive regulation of sequence-specific DNA binding transcription factor activity	phagocytic vesicle membrane|plasma membrane|specific granule	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity	p.A255T(1)		NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						GGCCTTTTTAGCCGAAAGACT	0.393000													40	67					0	0	0.048971	0	0
BTAF1	9044	broad.mit.edu	37	10	93695424	93695424	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr10:93695424C>T	ENST00000265990.6	+	2	333	c.25C>T	c.(25-27)Ctt>Ttt	p.L9F		NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	9					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity	p.L9F(1)		central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				GCTAGATCGCCTTTTTATTTT	0.378000													14	41					0	0	0.020292	0	0
MARK4	57787	broad.mit.edu	37	19	45762388	45762388	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr19:45762388A>T	ENST00000300843.4	+	2	490	c.193A>T	c.(193-195)Att>Ttt	p.I65F	MARK4_ENST00000262891.4_Missense_Mutation_p.I65F	NM_031417.3	NP_113605.2	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	65	Protein kinase.				microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding	p.I65F(2)		NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		GCTGAGGACCATTGGGAAGGG	0.652000													16	43					0	0	0.043863	0	0
C20orf166-AS1	253868	broad.mit.edu	37	20	61143804	61143804	+	RNA	SNP	G	G	T			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr20:61143804G>T	ENST00000475015.1	-	0	534				C20orf166-AS1_ENST00000412495.1_RNA														p.S15*(1)									CTTGTGTGGTGAACTCCCCTC	0.672000													49	155					5.86059e-21	8.88618e-21	0.048971	1	0
AZI1	22994	broad.mit.edu	37	17	79182788	79182788	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr17:79182788T>C	ENST00000269392.4	-	3	459	c.212A>G	c.(211-213)aAc>aGc	p.N71S	AZI1_ENST00000575907.1_Missense_Mutation_p.N71S|AZI1_ENST00000374782.3_Missense_Mutation_p.N71S|AZI1_ENST00000450824.2_Missense_Mutation_p.N71S	NM_014984.2	NP_055799.2	Q9UPN4	AZI1_HUMAN	5-azacytidine induced 1	71					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle		p.N71S(2)		breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			TCTAAGGTTGTTGATGGCCTG	0.592000													16	44					0	0	0.055883	0	0
DIO3	1735	broad.mit.edu	37	14	102028496	102028496	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr14:102028496C>A	ENST00000510508.4	+	1	809	c.663C>A	c.(661-663)agC>agA	p.S221R	DIO3_ENST00000359323.3_Missense_Mutation_p.S195R			P55073	IOD3_HUMAN	deiodinase, iodothyronine, type III	195					cellular nitrogen compound metabolic process|hormone biosynthetic process	endosome membrane|integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity	p.S221_L222>RM(1)|p.S195_L196>RM(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22		all_neural(303;0.185)				AGCACCGGAGCCTGGAGGACC	0.647000													41	178					8.00217e-19	1.1614e-18	0.048971	1	0
SETD1A	9739	broad.mit.edu	37	16	30991099	30991099	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr16:30991099C>T	ENST00000262519.8	+	14	4678	c.3992C>T	c.(3991-3993)cCa>cTa	p.P1331L		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	1331					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding	p.P1331L(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						TTCAGTTCCCCAGCTGATGAG	0.716000													4	7					0	0	0.021553	0	0
CSPG4	1464	broad.mit.edu	37	15	75975009	75975009	+	Silent	SNP	C	C	G			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr15:75975009C>G	ENST00000308508.5	-	7	4814	c.4722G>C	c.(4720-4722)gtG>gtC	p.V1574V		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	1574	Gly/Ser-rich (glycosaminoglycan attachment domain).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity	p.V1574V(1)		breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						TCTGGGCCGTCACTCGGAAGA	0.632000													27	81					0	0	0.027356	0	0
PRKCA	5578	broad.mit.edu	37	17	64770156	64770156	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr17:64770156G>A	ENST00000413366.3	+	14	1602	c.1576G>A	c.(1576-1578)Gtc>Atc	p.V526I		NM_002737.2	NP_002728.1	P17252	KPCA_HUMAN	protein kinase C, alpha	526	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	p.V526I(1)		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)	GGCCTATGGCGTCCTGTTGTA	0.423000													15	202					0	0	0.024245	0	0
TREX2	11219	broad.mit.edu	37	X	152710691	152710691	+	Silent	SNP	C	C	A			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chrX:152710691C>A	ENST00000330912.2	-	13	1748	c.198G>T	c.(196-198)ccG>ccT	p.P66P	TREX2_ENST00000334497.2_Silent_p.P109P|TREX2_ENST00000338525.2_Silent_p.P66P|TREX2_ENST00000393862.2_Silent_p.P66P|TREX2_ENST00000414588.1_Silent_p.P108P|TREX2_ENST00000370231.2_Silent_p.P66P|TREX2_ENST00000402951.1_Silent_p.P109P|TREX2_ENST00000370232.1_Silent_p.P109P			Q9BQ50	TREX2_HUMAN	three prime repair exonuclease 2	109					DNA repair	nucleus	3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|nucleic acid binding	p.P66P(1)|p.P109P(1)		endometrium(4)|large_intestine(2)|lung(3)|ovary(2)	11	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGGGGCGCTCCGGGCACATGC	0.667000								Editing and processing nucleases					21	15					2.44723e-14	3.30731e-14	0.024334	1	0
FHL5	9457	broad.mit.edu	37	6	97053871	97053871	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr6:97053871T>A	ENST00000326771.2	+	5	808	c.428T>A	c.(427-429)aTc>aAc	p.I143N	FHL5_ENST00000541107.1_Missense_Mutation_p.I143N	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN	four and a half LIM domains 5	143	LIM zinc-binding 2.					nucleus	zinc ion binding	p.I143N(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		AAGCCTTTGATCTCCAAAGAG	0.413000													6	77					0	0	0.029380	0	0
OR8U1	219417	broad.mit.edu	37	11	56143647	56143647	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr11:56143647C>T	ENST00000302270.1	+	1	548	c.548C>T	c.(547-549)cCt>cTt	p.P183L		NM_001005204.1	NP_001005204.1			olfactory receptor, family 8, subfamily U, member 1									p.P183L(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)					GATGACATGCCTCTCCTCAGG	0.463000													17	225					0	0	0.043863	0	0
VPS16	64601	broad.mit.edu	37	20	2846898	2846898	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr20:2846898A>T	ENST00000380445.3	+	23	2384	c.2312A>T	c.(2311-2313)gAa>gTa	p.E771V	VPS16_ENST00000380469.3_Missense_Mutation_p.E627V|VPS16_ENST00000380443.3_Missense_Mutation_p.E457V|PTPRA_ENST00000380393.3_Intron	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	771					intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						AACAAATACGAAGCCAAGAAG	0.552000													13	62					0	0	0.062417	0	0
GRIP1	23426	broad.mit.edu	37	12	66786504	66786504	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr12:66786504T>G	ENST00000359742.4	-	18	2462	c.2222A>C	c.(2221-2223)cAg>cCg	p.Q741P	GRIP1_ENST00000286445.7_Missense_Mutation_p.Q741P|GRIP1_ENST00000398016.3_Missense_Mutation_p.Q689P			Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	741	PDZ 6.				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity	p.Q689P(1)		NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		TCCTGCCATCTGTAACAAATG	0.438000													28	169					0	0	0.050027	0	0
PCDHGA9	56107	broad.mit.edu	37	5	140784669	140784669	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr5:140784669G>A	ENST00000573521.1	+	1	2150	c.2150G>A	c.(2149-2151)aGg>aAg	p.R717K	PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCAGGCTGAGGCACTGGCAC	0.592000													22	106					0	0	0.014323	0	0
CDHR1	92211	broad.mit.edu	37	10	85961589	85961589	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr10:85961589C>A	ENST00000372117.3	+	7	655	c.552C>A	c.(550-552)gaC>gaA	p.D184E	CDHR1_ENST00000332904.3_Missense_Mutation_p.D184E	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	184	Cadherin 2.				homophilic cell adhesion		calcium ion binding|receptor activity	p.D184E(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						TTGCCGTGGACCGCCACAGCG	0.617000													15	41					9.16793e-09	1.09604e-08	0.033300	1	0
GRIN2B	2904	broad.mit.edu	37	12	13715944	13715944	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr12:13715944T>G	ENST00000279593.3	-	13	4437	c.4228A>C	c.(4228-4230)Acg>Ccg	p.T1410P		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1410					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.T1410P(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CCCGCCACCGTGGGCTGCCTG	0.632000													27	35					0	0	0.041601	0	0
OR4N5	390437	broad.mit.edu	37	14	20612554	20612554	+	Silent	SNP	C	C	T			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr14:20612554C>T	ENST00000333629.1	+	1	660	c.660C>T	c.(658-660)gtC>gtT	p.V220V		NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V220V(1)		endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		CCTATGCAGTCATCCTCTGTC	0.507000													33	105					0	0	0.045705	0	0
KEAP1	9817	broad.mit.edu	37	19	10600477	10600477	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr19:10600477T>C	ENST00000171111.5	-	4	1925	c.1378A>G	c.(1378-1380)Agg>Ggg	p.R460G	KEAP1_ENST00000393623.2_Missense_Mutation_p.R460G	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	460					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	p.R460G(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			ACCCCGATCCTTCGTGTCAGC	0.552000													14	24					0	0	0.033300	0	0
SLC25A48	153328	broad.mit.edu	37	5	135188390	135188390	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr5:135188390C>A	ENST00000274513.5	+	4	473	c.301C>A	c.(301-303)Cgc>Agc	p.R101S	SLC25A48_ENST00000420621.1_Missense_Mutation_p.R101S|SLC25A48_ENST00000433282.2_Missense_Mutation_p.R47S|SLC25A48_ENST00000412661.2_Missense_Mutation_p.R101S|SLC25A48_ENST00000425402.1_Intron			Q6ZT89	S2548_HUMAN	solute carrier family 25, member 48	101					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	p.R101S(4)		NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						CAGTCCTCCCCGCACGCTGTC	0.647000													20	91					6.45866e-13	8.36486e-13	0.033182	1	0
KIF1B	23095	broad.mit.edu	37	1	10407886	10407886	+	Splice_Site	SNP	G	G	T			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr1:10407886G>T	ENST00000377086.1	+	36	4066		c.e36+1		KIF1B_ENST00000377081.1_Splice_Site|KIF1B_ENST00000465635.1_Splice_Site|KIF1B_ENST00000263934.6_Splice_Site			O60333	KIF1B_HUMAN	kinesin family member 1B						anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding	p.?(1)		breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		GCTTCATCAGGTACTAATGAG	0.398000													20	62					2.37509e-13	3.13042e-13	0.055883	1	0
ROBO3	64221	broad.mit.edu	37	11	124744018	124744018	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr11:124744018A>G	ENST00000397801.1	+	12	2029	c.1837A>G	c.(1837-1839)Aca>Gca	p.T613A	ROBO3_ENST00000538940.1_Missense_Mutation_p.T591A	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	613	Fibronectin type-III 1.				axon midline choice point recognition	integral to membrane	receptor activity	p.T613A(2)		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)		GCAGCTGGAGACACACACAGT	0.587000													49	209					0	0	0.048971	0	0
SKIV2L2	23517	broad.mit.edu	37	5	54618257	54618257	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr5:54618257G>T	ENST00000230640.5	+	2	491	c.237G>T	c.(235-237)aaG>aaT	p.K79N	SKIV2L2_ENST00000545714.1_Intron|SKIV2L2_ENST00000504388.1_3'UTR	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	79					maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	p.K79N(1)		NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				TTGGAAAGAAGCCCAGGATAG	0.318000													20	78					3.62473e-10	4.46213e-10	0.062417	1	0
CRB1	23418	broad.mit.edu	37	1	197390532	197390532	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr1:197390532T>C	ENST00000367400.3	+	6	1709	c.1574T>C	c.(1573-1575)tTc>tCc	p.F525S	CRB1_ENST00000543483.1_Missense_Mutation_p.F224S|CRB1_ENST00000535699.1_Missense_Mutation_p.F456S|CRB1_ENST00000476483.1_3'UTR|CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000538660.1_Missense_Mutation_p.F525S|CRB1_ENST00000367399.2_Missense_Mutation_p.F413S|CRB1_ENST00000544212.1_Missense_Mutation_p.F6S	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	525	Laminin G-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	p.F525S(1)		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						CTTCTACTTTTCCGAAGCAAC	0.458000													35	64					0	0	0.025465	0	0
PIP5K1C	23396	broad.mit.edu	37	19	3664855	3664855	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr19:3664855C>A	ENST00000335312.3	-	3	272	c.184G>T	c.(184-186)Ggt>Tgt	p.G62C	PIP5K1C_ENST00000587482.1_5'UTR|PIP5K1C_ENST00000589578.1_Missense_Mutation_p.G62C|PIP5K1C_ENST00000539785.1_Missense_Mutation_p.G62C|PIP5K1C_ENST00000537021.1_Missense_Mutation_p.G62C	NM_001195733.1|NM_012398.2	NP_001182662.1|NP_036530.1	O60331	PI51C_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, gamma	62					axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding	p.G62C(1)		large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		GCGTCCACACCTCGATGGCCC	0.622000													47	84					9.72345e-25	1.51119e-24	0.048971	1	0
BASP1	10409	broad.mit.edu	37	5	17275921	17275921	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr5:17275921C>T	ENST00000322611.3	+	2	856	c.596C>T	c.(595-597)gCc>gTc	p.A199V		NM_001271606.1|NM_006317.3	NP_001258535.1|NP_006308.3	P80723	BASP1_HUMAN	brain abundant, membrane attached signal protein 1	199					glomerular visceral epithelial cell differentiation|negative regulation of transcription, DNA-dependent	cytoplasm|cytoskeleton|growth cone|nuclear speck|plasma membrane	protein domain specific binding|transcription corepressor activity|transcription regulatory region DNA binding	p.A199V(1)		endometrium(1)|lung(8)	9						ACACCCAAGGCCCAGGGCCCC	0.652000													8	39					0	0	0.047766	0	0
EFCAB6	64800	broad.mit.edu	37	22	43936185	43936185	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr22:43936185T>G	ENST00000262726.7	-	28	3954	c.3701A>C	c.(3700-3702)tAc>tCc	p.Y1234S	EFCAB6_ENST00000396231.2_Missense_Mutation_p.Y1082S|EFCAB6_ENST00000461800.1_5'UTR	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	1234	EF-hand 14.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	p.Y1234S(1)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				GAAGTCCGGGTATTTCAGCCT	0.572000													23	50					0	0	0.021523	0	0
ABCG5	64240	broad.mit.edu	37	2	44051409	44051409	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr2:44051409A>G	ENST00000405322.1	-	5	1450	c.554T>C	c.(553-555)tTc>tCc	p.F185S	ABCG5_ENST00000260645.1_Missense_Mutation_p.F356S|ABCG5_ENST00000543989.1_Intron			Q9H222	ABCG5_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 5	356	ABC transporter.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity	p.F356S(1)		breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TTTGGTTTTGAAAGGAACCAT	0.378000													49	175					0	0	0.048971	0	0
EPHA6	285220	broad.mit.edu	37	3	97124023	97124023	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr3:97124023G>T	ENST00000389672.5	+	6	1674	c.1636G>T	c.(1636-1638)Gac>Tac	p.D546Y		NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	451						integral to plasma membrane	ATP binding|ephrin receptor activity	p.D452Y(2)|p.D546Y(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						GGTAAGGAAGGACTGGGCATC	0.398000													4	4					0.014758	0.0153763	0.014758	1	0
ZNHIT2	741	broad.mit.edu	37	11	64884413	64884413	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr11:64884413G>A	ENST00000310597.4	-	1	757	c.713C>T	c.(712-714)tCt>tTt	p.S238F		NM_014205.2	NP_055020.1	Q9UHR6	ZNHI2_HUMAN	zinc finger, HIT-type containing 2	238							metal ion binding	p.S238F(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						ACAGAAGTCAGAGAGCAGCGC	0.662000													6	19					0	0	0.029380	0	0
NOS2	4843	broad.mit.edu	37	17	26114745	26114745	+	Silent	SNP	T	T	C			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr17:26114745T>C	ENST00000313735.6	-	5	659	c.426A>G	c.(424-426)caA>caG	p.Q142Q		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	142					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding	p.Q142Q(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	ATTCGATAGCTTGAGGTAGAA	0.532000													66	216					0	0	0.048971	0	0
PPM1H	57460	broad.mit.edu	37	12	63042381	63042381	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr12:63042381G>T	ENST00000228705.6	-	10	1733	c.1433C>A	c.(1432-1434)gCc>gAc	p.A478D	PPM1H_ENST00000551214.1_5'UTR	NM_020700.1	NP_065751.1	Q9ULR3	PPM1H_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1H	478	PP2C-like.						phosphoprotein phosphatase activity	p.A478D(1)		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)		CACACCCCGGGCACGCATCAC	0.517000													17	63					1.96292e-10	2.4244e-10	0.055883	1	0
ARHGEF11	9826	broad.mit.edu	37	1	156914841	156914841	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr1:156914841C>A	ENST00000368194.3	-	30	4000	c.2961G>T	c.(2959-2961)agG>agT	p.R987S	ARHGEF11_ENST00000487682.1_5'UTR|ARHGEF11_ENST00000315174.8_Missense_Mutation_p.R363S|ARHGEF11_ENST00000361409.2_Missense_Mutation_p.R947S	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	947	PH.				actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	p.R987S(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GGTTGCTGGCCCTCTCCAGGG	0.562000													91	253					3.99045e-58	6.85915e-58	0.048971	1	0
SIGLEC16	400709	broad.mit.edu	37	19	50473221	50473221	+	RNA	SNP	T	T	C	rs117072442	by1000genomes	TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr19:50473221T>C	ENST00000602139.1	+	0	222									sialic acid binding Ig-like lectin 16 (gene/pseudogene)									p.W65R(3)		endometrium(2)|kidney(2)|lung(6)	10						GTTCAAAGGATGGACCAGCCC	0.602000													3	79					0	0	0.004672	0	0
TRPC3	7222	broad.mit.edu	37	4	122853479	122853479	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr4:122853479G>T	ENST00000264811.5	-	1	1133	c.715C>A	c.(715-717)Cta>Ata	p.L239I	TRPC3_ENST00000513531.1_Missense_Mutation_p.L239I|TRPC3_ENST00000379645.3_Missense_Mutation_p.L312I	NM_003305.2	NP_003296.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	227					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity	p.L239I(1)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						CTGAGCTCTAGGGCCGTAAGC	0.592000													7	30					2.17888e-05	2.38335e-05	0.058154	1	0
ANKRD20A4	728747	broad.mit.edu	37	9	69420407	69420407	+	Silent	SNP	C	C	T			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr9:69420407C>T	ENST00000357336.3	+	13	1578	c.1297C>T	c.(1297-1299)Ctg>Ttg	p.L433L		NM_001098805.1	NP_001092275.1	Q4UJ75	A20A4_HUMAN	ankyrin repeat domain 20 family, member A4	433								p.L433L(1)		breast(1)|large_intestine(1)|liver(1)|lung(9)|pancreas(2)|skin(2)	16						TCCCAAGAAGCTGAAGGAAGA	0.353000													6	128					0	0	0.008291	0	0
RANBP2	5903	broad.mit.edu	37	2	109399221	109399221	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr2:109399221G>T	ENST00000283195.6	+	28	9398	c.9272G>T	c.(9271-9273)cGg>cTg	p.R3091L		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	3091	PPIase cyclophilin-type.				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	p.R3091L(2)	RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						ATTGTTCCTCGGACTGCTGAG	0.408000													69	219					4.37588e-27	6.97523e-27	0.048971	1	0
CSTF3	1479	broad.mit.edu	37	11	33112197	33112197	+	Silent	SNP	G	G	T			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr11:33112197G>T	ENST00000323959.4	-	17	1661	c.1522C>A	c.(1522-1524)Cgg>Agg	p.R508R	TCP11L1_ENST00000324357.9_Intron	NM_001326.2	NP_001317.1	Q12996	CSTF3_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa	508					mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding	p.R508R(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1)	19						GCTGTAAACCGTCTTTTCTCC	0.358000													11	57					0.0135373	0.014144	0.013537	1	0
TMEM74B	55321	broad.mit.edu	37	20	1161882	1161882	+	Silent	SNP	G	G	A			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr20:1161882G>A	ENST00000381894.3	-	2	1052	c.381C>T	c.(379-381)ctC>ctT	p.L127L		NM_018354.1	NP_060824.1	Q9NUR3	CT046_HUMAN	transmembrane protein 74B	127						integral to membrane	protein binding	p.L127L(1)									CCAGGAAAACGAGGGCGGAAA	0.612000													39	84					0	0	0.023175	0	0
PCDHB5	26167	broad.mit.edu	37	5	140517152	140517152	+	Silent	SNP	G	G	A			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr5:140517152G>A	ENST00000231134.5	+	1	2353	c.2136G>A	c.(2134-2136)ctG>ctA	p.L712L		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		712					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.L712L(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAGTGCGGCTGTGCAGGAGGA	0.677000													48	188					0	0	0.048971	0	0
MYO7B	4648	broad.mit.edu	37	2	128389269	128389269	+	Silent	SNP	G	G	T			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr2:128389269G>T	ENST00000389524.4	+	37	5168	c.5115G>T	c.(5113-5115)ccG>ccT	p.P1705P	MYO7B_ENST00000428314.1_Silent_p.P1704P|MYO7B_ENST00000409816.2_Silent_p.P1704P|MYO7B_ENST00000409090.1_Silent_p.P557P			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1704	MyTH4 2.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	p.P1948P(1)|p.P1704P(1)		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)		TGCAGCACCCGGCCCTCCAGG	0.667000													5	32					5.9392e-07	6.77468e-07	0.021553	1	0
GPRC6A	222545	broad.mit.edu	37	6	117121759	117121759	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr6:117121759G>T	ENST00000310357.3	-	4	1557	c.1536C>A	c.(1534-1536)ttC>ttA	p.F512L	GPRC6A_ENST00000368549.3_Intron|GPRC6A_ENST00000530250.1_Missense_Mutation_p.F337L	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	512					response to amino acid stimulus		G-protein coupled receptor activity	p.F512L(1)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		TAAGATTCCTGAACTCATTTT	0.428000													45	42					4.01344e-20	5.98805e-20	0.048971	1	0
NRXN2	9379	broad.mit.edu	37	11	64402833	64402833	+	Silent	SNP	C	C	A			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr11:64402833C>A	ENST00000265459.6	-	18	3956	c.3495G>T	c.(3493-3495)ctG>ctT	p.L1165L	NRXN2_ENST00000377551.1_Silent_p.L1165L|NRXN2_ENST00000377559.3_Silent_p.L1125L|NRXN2_ENST00000409571.1_Silent_p.L1158L|NRXN2_ENST00000301894.2_Silent_p.L119L	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN	neurexin 2	1165	Laminin G-like 6.				cell adhesion	integral to membrane	metal ion binding	p.L119L(1)|p.L1165L(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						AGCCCACGGCCAGGCGATCCA	0.652000													18	49					4.35082e-09	5.30345e-09	0.055883	1	0
MTHFD2L	441024	broad.mit.edu	37	4	75065547	75065547	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr4:75065547C>T	ENST00000395759.2	+	4	515	c.488C>T	c.(487-489)gCc>gTc	p.A163V	MTHFD2L_ENST00000331145.6_Missense_Mutation_p.A105V|MTHFD2L_ENST00000433372.1_Missense_Mutation_p.A28V|MTHFD2L_ENST00000325278.6_Missense_Mutation_p.A105V	NM_001144978.1	NP_001138450.1	Q9H903	MTD2L_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2-like	105					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	p.A105V(1)		central_nervous_system(1)|endometrium(1)|lung(4)|ovary(2)	8			all cancers(17;0.0101)|Lung(101;0.196)			AATGGAATTGCCCCAGAAAAA	0.343000													4	81					0	0	0.029380	0	0
GBA	2629	broad.mit.edu	37	1	155207330	155207330	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr1:155207330C>A	ENST00000428024.2	-	6	1042	c.540G>T	c.(538-540)tgG>tgT	p.W180C	GBA_ENST00000536770.1_Missense_Mutation_p.W154C|GBA_ENST00000427500.2_Missense_Mutation_p.W218C|GBA_ENST00000327247.5_Missense_Mutation_p.W267C|GBA_ENST00000368373.3_Missense_Mutation_p.W267C	NM_001171811.1	NP_001165282.1	P04062	GLCM_HUMAN	glucosidase, beta, acid	267					carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of interleukin-6 production|negative regulation of MAP kinase activity|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction	lysosomal lumen|lysosomal membrane	cation binding|glucosylceramidase activity|receptor binding	p.W267C(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	26	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		Alglucerase(DB00088)|Imiglucerase(DB00053)	CTGTCACTGCCCAGAACTGTA	0.542000									Gaucher disease type I				7	44					5.16669e-11	6.53279e-11	0.010729	1	0
UBA2	10054	broad.mit.edu	37	19	34922808	34922808	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr19:34922808A>G	ENST00000246548.4	+	3	335	c.265A>G	c.(265-267)Atc>Gtc	p.I89V	UBA2_ENST00000439527.2_5'UTR	NM_005499.2	NP_005490.1	Q9UBT2	SAE2_HUMAN	ubiquitin-like modifier activating enzyme 2	89					protein sumoylation	nucleus	ATP binding|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity|SUMO activating enzyme activity	p.I89V(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	20	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			GAAAGCTAATATCGTTGCCTA	0.353000													66	195					0	0	0.048971	0	0
GUCA1C	9626	broad.mit.edu	37	3	108634993	108634993	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr3:108634993C>G	ENST00000261047.3	-	3	555	c.423G>C	c.(421-423)aaG>aaC	p.K141N	GUCA1C_ENST00000393963.3_Missense_Mutation_p.K141N|GUCA1C_ENST00000471108.1_Missense_Mutation_p.K141N	NM_005459.3	NP_005450.3	O95843	GUC1C_HUMAN	guanylate cyclase activator 1C	141	EF-hand 4.				signal transduction|visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity	p.K141N(1)		endometrium(2)|large_intestine(1)|liver(1)|lung(8)|pancreas(1)|skin(1)	14						TTATATCGATCTTATGGAACA	0.413000													24	93					0	0	0.030593	0	0
PXDN	7837	broad.mit.edu	37	2	1667444	1667444	+	Silent	SNP	G	G	A			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr2:1667444G>A	ENST00000252804.4	-	12	1550	c.1500C>T	c.(1498-1500)taC>taT	p.Y500Y		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	500	Ig-like C2-type 3.				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	p.Y500Y(1)		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)		CCTGGCATTCGTACTGGCCCT	0.602000													12	161					0	0	0.016723	0	0
CLCA2	9635	broad.mit.edu	37	1	86900337	86900337	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr1:86900337C>A	ENST00000370565.4	+	6	1043	c.881C>A	c.(880-882)aCt>aAt	p.T294N		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	294					cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity	p.T294N(1)		NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		ATGAATGGGACTGAGCTTCCA	0.498000													13	105					3.85864e-22	5.89866e-22	0.016522	1	0
INSM2	84684	broad.mit.edu	37	14	36004201	36004201	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr14:36004201C>A	ENST00000307169.3	+	1	954	c.743C>A	c.(742-744)gCg>gAg	p.A248E		NM_032594.3	NP_115983.3	Q96T92	INSM2_HUMAN	insulinoma-associated 2	248					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A248E(1)		endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	10	Breast(36;0.122)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(9;2.16e-07)|Lung(238;2.63e-07)|Epithelial(34;0.00145)|all cancers(34;0.00452)	GBM - Glioblastoma multiforme(112;0.0223)		GAGCCCGGAGCGCCGTCCCGG	0.642000													15	36					1.96895e-08	2.33148e-08	0.016522	1	0
PRF1	5551	broad.mit.edu	37	10	72360447	72360447	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr10:72360447C>A	ENST00000441259.1	-	2	372	c.212G>T	c.(211-213)gGc>gTc	p.G71V	PRF1_ENST00000373209.2_Missense_Mutation_p.G71V	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	71	MACPF.				apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity	p.G71V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						GGTGCAGGTGCCGTCGGGCCG	0.697000			M			"""various leukaemia, lymphoma"""	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis				28	55					6.00712e-18	8.61791e-18	0.050027	1	0
SOX30	11063	broad.mit.edu	37	5	157078599	157078599	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr5:157078599G>A	ENST00000265007.6	-	1	829	c.488C>T	c.(487-489)tCc>tTc	p.S163F	SOX30_ENST00000519442.1_Intron|SOX30_ENST00000311371.5_Missense_Mutation_p.S163F	NM_178424.1	NP_848511.1	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30	163					regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity	p.S163F(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GACCACCCTGGAGGCTCTAGG	0.662000													42	63					0	0	0.048971	0	0
LRP1B	53353	broad.mit.edu	37	2	142004803	142004803	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr2:142004803G>A	ENST00000389484.3	-	5	1555	c.584C>T	c.(583-585)gCt>gTt	p.A195V		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	195					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.A195V(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)		ACCAATTTTAGCCTTGCAAGA	0.378000										TSP Lung(27;0.18)			15	50					0	0	0.028581	0	0
GPX3	2878	broad.mit.edu	37	5	150407000	150407000	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr5:150407000C>G	ENST00000388825.4	+	4	459	c.367C>G	c.(367-369)Cga>Gga	p.R123G	GPX3_ENST00000517973.1_Silent_p.S71S	NM_002084.3	NP_002075.2	P22352	GPX3_HUMAN	glutathione peroxidase 3 (plasma)	123					hydrogen peroxide catabolic process|protein homotetramerization|response to lipid hydroperoxide	extracellular space	glutathione peroxidase activity|selenium binding|transcription factor binding	p.R123G(1)		kidney(1)|large_intestine(3)|lung(1)|skin(1)	6		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Glutathione(DB00143)	CAGGTATGTCCGACCAGGTGG	0.493000													38	111					0	0	0.036044	0	0
MYCBP2	23077	broad.mit.edu	37	13	77656020	77656020	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr13:77656020T>G	ENST00000407578.2	-	64	11411	c.11145A>C	c.(11143-11145)gaA>gaC	p.E3715D	MYCBP2_ENST00000544440.2_Missense_Mutation_p.E3677D|MYCBP2-AS1_ENST00000422231.2_RNA|MYCBP2-AS1_ENST00000448470.2_RNA|MYCBP2-AS1_ENST00000450627.2_RNA|MYCBP2_ENST00000357337.6_Missense_Mutation_p.E3677D|MYCBP2-AS1_ENST00000593933.1_RNA	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	3677	DOC.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	p.E3715D(1)|p.E3677D(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TAAAACTCTCTTCACTATCGC	0.373000													25	64					0	0	0.018920	0	0
RPL32P3	132241	broad.mit.edu	37	3	129116038	129116038	+	RNA	SNP	C	C	T			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr3:129116038C>T	ENST00000514355.1	-	0	412																				lung(1)	1						GAGGCTTTCCCGCCCAGGGAC	0.567000													4	175					0	0	0.021553	0	0
AFF2	2334	broad.mit.edu	37	X	148037652	148037652	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chrX:148037652G>T	ENST00000370460.2	+	11	2556	c.2077G>T	c.(2077-2079)Gag>Tag	p.E693*	AFF2_ENST00000286437.5_Nonsense_Mutation_p.E334*|AFF2_ENST00000342251.3_Nonsense_Mutation_p.E660*|AFF2_ENST00000370457.5_Nonsense_Mutation_p.E660*	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	693					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	p.E693*(2)|p.E334*(1)		breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					TTTGGCTCCCGAGAAGAAGAA	0.498000													68	63					1.74474e-33	2.90531e-33	0.048971	1	0
SOS2	6655	broad.mit.edu	37	14	50649236	50649236	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr14:50649236G>A	ENST00000216373.5	-	6	1077	c.803C>T	c.(802-804)aCt>aTt	p.T268I	SOS2_ENST00000543680.1_Missense_Mutation_p.T268I	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	268	DH.				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	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity	p.T268I(2)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					GCTTTCATCAGTCATTTCAAC	0.338000													14	40					0	0	0.028581	0	0
HNRNPA0	10949	broad.mit.edu	37	5	137089549	137089549	+	Silent	SNP	G	G	A			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr5:137089549G>A	ENST00000314940.4	-	1	490	c.207C>T	c.(205-207)ccC>ccT	p.P69P		NM_006805.3	NP_006796.1	Q13151	ROA0_HUMAN	heterogeneous nuclear ribonucleoprotein A0	69	RRM 1.				nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|RNA binding	p.P69P(1)		large_intestine(1)|lung(2)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CCACGGCATGGGGCGAGGCGG	0.662000													25	79					0	0	0.024334	0	0
C1orf173	127254	broad.mit.edu	37	1	75037769	75037769	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr1:75037769G>T	ENST00000326665.5	-	14	3843	c.3625C>A	c.(3625-3627)Cgc>Agc	p.R1209S	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1209	Glu-rich.							p.R1209S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CCATCTTGGCGGTGCCCTTCC	0.602000													68	126					9.4991e-31	1.56087e-30	0.048971	1	0
RASGRF2	5924	broad.mit.edu	37	5	80376481	80376481	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr5:80376481A>G	ENST00000265080.4	+	7	1101	c.1034A>G	c.(1033-1035)tAc>tGc	p.Y345C	RASGRF2_ENST00000502677.1_3'UTR	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	345	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity	p.Y345C(1)		biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		AATCACCAGTACAGCCTGCAA	0.428000													46	149					0	0	0.048971	0	0
NUP133	55746	broad.mit.edu	37	1	229588306	229588306	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr1:229588306G>A	ENST00000261396.3	-	22	3156	c.3065C>T	c.(3064-3066)gCg>gTg	p.A1022V	NUP133_ENST00000366679.1_Missense_Mutation_p.A951V|NUP133_ENST00000537506.1_Missense_Mutation_p.A1006V	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	1022					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	p.A1022V(1)		NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				TACTGGCATCGCACTGAGATT	0.448000													15	60					0	0	0.049695	0	0
MKNK1	8569	broad.mit.edu	37	1	47030775	47030775	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr1:47030775C>T	ENST00000371946.4	-	10	869	c.706G>A	c.(706-708)Ggc>Agc	p.G236S	MKNK1_ENST00000371945.4_Missense_Mutation_p.G195S|MKNK1_ENST00000371944.4_Missense_Mutation_p.G100S|MKNK1-AS1_ENST00000602433.1_RNA|MKNK1_ENST00000341183.5_Missense_Mutation_p.G195S|MKNK1_ENST00000428112.2_Missense_Mutation_p.G195S	NM_003684.5	NP_003675.2	Q9BUB5	MKNK1_HUMAN	MAP kinase interacting serine/threonine kinase 1	236	Protein kinase.				intracellular protein kinase cascade|peptidyl-serine phosphorylation|regulation of translation	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	p.G236S(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	13	Acute lymphoblastic leukemia(166;0.155)					ATCCCACTGCCCAAGTCAAAG	0.493000													42	220					0	0	0.048971	0	0
IRF9	10379	broad.mit.edu	37	14	24620512	24620512	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr14:24620512C>G	ENST00000558468.1	+	1	86	c.86C>G	c.(85-87)gCc>gGc	p.A29G	RNF31_ENST00000382687.3_Missense_Mutation_p.A403G|RNF31_ENST00000559275.1_Missense_Mutation_p.A403G|RNF31_ENST00000324103.6_Missense_Mutation_p.A554G														p.A554G(1)									TGTCAGGAGGCCCGGAGAGCC	0.602000													22	63					0	0	0.016522	0	0
FAM92A1P2	403315	broad.mit.edu	37	4	183959141	183959141	+	RNA	SNP	G	G	A			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr4:183959141G>A	ENST00000502308.1	+	0	324					NR_003612.1																						GAACTTTGCTGATGAGTTTGC	0.448000													5	12					0	0	0.014758	0	0
TRIM71	131405	broad.mit.edu	37	3	32860298	32860298	+	Silent	SNP	G	G	T			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr3:32860298G>T	ENST00000383763.4	+	1	789	c.726G>T	c.(724-726)ccG>ccT	p.P242P		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase	242					multicellular organismal development	cytoplasm	zinc ion binding	p.P242P(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AGCGCGGCCCGCCGGGTCCCG	0.721000													14	25					1.56452e-12	2.01926e-12	0.043863	1	0
MYH13	8735	broad.mit.edu	37	17	10210316	10210316	+	Silent	SNP	C	C	A			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr17:10210316C>A	ENST00000418404.3	-	35	5398	c.5235G>T	c.(5233-5235)gtG>gtT	p.V1745V	MYH13_ENST00000570743.1_Silent_p.V1745V|MYH13_ENST00000252172.4_Silent_p.V1745V			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1745					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	p.V1745V(2)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TCGAGTTCTCCACCTCTGCCT	0.493000													22	67					1.50039e-11	1.90356e-11	0.062417	1	0
POLR2A	5430	broad.mit.edu	37	17	7405883	7405883	+	Silent	SNP	G	G	A			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr17:7405883G>A	ENST00000322644.6	+	16	3018	c.2619G>A	c.(2617-2619)gtG>gtA	p.V873V		NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	873					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding	p.V873V(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				CAGTGATGGTGAAGTACGACG	0.587000													20	66					0	0	0.062417	0	0
OR2T12	127064	broad.mit.edu	37	1	248457981	248457981	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr1:248457981T>A	ENST00000317996.1	-	1	899	c.900A>T	c.(898-900)aaA>aaT	p.K300N		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	300					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K300N(1)		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)			CCAGCCACCGTTTCAGGGCTT	0.453000													17	220					0	0	0.049695	0	0
INHBA	3624	broad.mit.edu	37	7	41730009	41730009	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr7:41730009G>T	ENST00000242208.4	-	3	766	c.520C>A	c.(520-522)Cgc>Agc	p.R174S	AC005027.3_ENST00000416150.1_RNA|INHBA_ENST00000442711.1_Missense_Mutation_p.R174S|INHBA_ENST00000464515.1_5'UTR	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	174					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	p.R174S(1)		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						TGGAAGAGGCGGATGGTGACT	0.582000										TSP Lung(11;0.080)			38	101					1.48734e-19	2.20149e-19	0.045515	1	0
TXK	7294	broad.mit.edu	37	4	48106930	48106930	+	Silent	SNP	T	T	C			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr4:48106930T>C	ENST00000264316.4	-	6	574	c.489A>G	c.(487-489)ctA>ctG	p.L163L	TXK_ENST00000510457.1_5'UTR	NM_003328.2	NP_003319.2	P42681	TXK_HUMAN	TXK tyrosine kinase	163	SH2.					cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity	p.L163L(1)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						CTTGTCTCAATAGATGTTCTG	0.259000													10	45					0	0	0.020292	0	0
VN1R2	317701	broad.mit.edu	37	19	53762540	53762540	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr19:53762540C>A	ENST00000341702.3	+	1	996	c.912C>A	c.(910-912)taC>taA	p.Y304*	VN1R2_ENST00000598458.1_3'UTR	NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	304					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity	p.Y304*(1)		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)		ACAATCTCTACCCCAACTCTT	0.483000													60	162					6.60958e-23	1.01456e-22	0.048971	1	0
GRM2	2912	broad.mit.edu	37	3	51743114	51743114	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr3:51743114C>T	ENST00000395052.3	+	2	349	c.115C>T	c.(115-117)Cca>Tca	p.P39S	GRM2_ENST00000442933.2_Missense_Mutation_p.P39S|GRM2_ENST00000475478.1_Intron	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	39					synaptic transmission	integral to plasma membrane		p.P39S(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	TGGGCTGTTCCCAGTGCACCA	0.642000													24	59					0	0	0.016522	0	0
PRSS50	29122	broad.mit.edu	37	3	46758935	46758935	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr3:46758935G>T	ENST00000460241.1	-	7	1969	c.299C>A	c.(298-300)cCa>cAa	p.P100Q	PRSS50_ENST00000315170.7_Missense_Mutation_p.P100Q			Q9UI38	TSP50_HUMAN	protease, serine, 50	100	Peptidase S1.				proteolysis	endoplasmic reticulum	serine-type endopeptidase activity|threonine-type endopeptidase activity	p.P100Q(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11						ACAGCGGTATGGGTCGACTTT	0.617000													28	74					4.74835e-14	6.34816e-14	0.045705	1	0
CLPB	81570	broad.mit.edu	37	11	72028186	72028186	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr11:72028186T>C	ENST00000294053.3	-	8	1215	c.1042A>G	c.(1042-1044)Att>Gtt	p.I348V	CLPB_ENST00000340729.5_Missense_Mutation_p.I289V|CLPB_ENST00000437826.2_Missense_Mutation_p.I303V|CLPB_ENST00000543042.1_Missense_Mutation_p.I147V|CLPB_ENST00000538039.1_Missense_Mutation_p.I318V	NM_001258394.1|NM_030813.4	NP_001245323.1|NP_110440.1	Q9H078	CLPB_HUMAN	ClpB caseinolytic peptidase B homolog (E. coli)	348					cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding	p.I348V(1)		endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						TCCTGGCCAATGATGTGCTCC	0.612000													55	143					0	0	0.048971	0	0
YES1	7525	broad.mit.edu	37	18	724522	724522	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr18:724522C>A	ENST00000584307.1	-	12	1704	c.1534G>T	c.(1534-1536)Gac>Tac	p.D512Y	YES1_ENST00000577961.1_Missense_Mutation_p.D517Y|YES1_ENST00000314574.4_Missense_Mutation_p.D512Y			P07947	YES_HUMAN	v-yes-1 Yamaguchi sarcoma viral oncogene homolog 1	512	Protein kinase.				blood coagulation|leukocyte migration|regulation of vascular permeability|T cell costimulation	cytosol|plasma membrane	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity	p.D512Y(1)		endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)	17					Dasatinib(DB01254)	TCATCAGGGTCCTTCTTCCAA	0.448000													21	60					1.96292e-10	2.4244e-10	0.055883	1	0
SNTG2	54221	broad.mit.edu	37	2	1271214	1271214	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr2:1271214G>T	ENST00000308624.5	+	14	1284	c.1155G>T	c.(1153-1155)agG>agT	p.R385S	SNTG2_ENST00000407292.1_Missense_Mutation_p.R258S	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	385	PH.				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding	p.R385S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		AGGACCAGAGGCCCTATTGCT	0.517000													8	20					0.0477658	0.0493535	0.047766	1	0
FSTL5	56884	broad.mit.edu	37	4	162376242	162376242	+	Silent	SNP	C	C	A			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr4:162376242C>A	ENST00000306100.5	-	15	2191	c.1755G>T	c.(1753-1755)acG>acT	p.T585T	FSTL5_ENST00000427802.2_Silent_p.T575T|FSTL5_ENST00000379164.4_Silent_p.T584T|FSTL5_ENST00000536695.1_Silent_p.T584T	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	585						extracellular region	calcium ion binding	p.T585T(1)		central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		GGGTGTGGATCGTGTGGTGAG	0.433000													4	19					2.0095e-06	2.23744e-06	0.029380	1	0
IFI44L	10964	broad.mit.edu	37	1	79107250	79107250	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr1:79107250G>C	ENST00000370751.4	+	8	1459	c.1280G>C	c.(1279-1281)cGg>cCg	p.R427P	IFI44L_ENST00000476521.1_3'UTR|IFI44L_ENST00000342282.3_Missense_Mutation_p.R169P	NM_006820.2	NP_006811.2	Q53G44	IF44L_HUMAN	interferon-induced protein 44-like	427						cytoplasm		p.R388L(1)|p.R388P(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	22						CAGATGCTGCGGGCTGCAGAT	0.438000													15	92					0	0	0.033300	0	0
OR2G3	81469	broad.mit.edu	37	1	247768887	247768887	+	Translation_Start_Site	SNP	G	G	A			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr1:247768887G>A	ENST00000320002.2	+	0	32				RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3						sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CCCCTGGAGGGATGGGATTGG	0.458000													20	57					0	0	0.062417	0	0
SOCS6	9306	broad.mit.edu	37	18	67993064	67993064	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr18:67993064G>A	ENST00000397942.3	+	2	1476	c.1160G>A	c.(1159-1161)gGa>gAa	p.G387E	SOCS6_ENST00000582322.1_Missense_Mutation_p.G387E	NM_004232.3	NP_004223.2	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	387	SH2.				defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth	cytoplasm		p.G387E(1)		NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				TGGTACTGGGGACCAATCACA	0.478000													27	80					0	0	0.027356	0	0
RIC3	79608	broad.mit.edu	37	11	8161742	8161742	+	Splice_Site	SNP	T	T	A			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr11:8161742T>A	ENST00000343202.4	-	2	190		c.e2-2		RIC3_ENST00000539720.1_Splice_Site|RIC3_ENST00000309737.6_Splice_Site|RIC3_ENST00000335425.7_Intron|RIC3_ENST00000419822.2_Splice_Site|RIC3_ENST00000425599.2_Splice_Site	NM_001206671.2|NM_024557.4	NP_001193600.1|NP_078833.3	Q7Z5B4	RIC3_HUMAN	RIC3 acetylcholine receptor chaperone							endoplasmic reticulum membrane|Golgi membrane|integral to membrane		p.?(1)		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)		CCAATTTTCCTGAGAAAATAA	0.428000													6	36					0	0	0.029380	0	0
F13B	2165	broad.mit.edu	37	1	197029605	197029605	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr1:197029605T>A	ENST00000367412.1	-	5	739	c.696A>T	c.(694-696)gaA>gaT	p.E232D		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	232	Sushi 4.				blood coagulation	extracellular region		p.E232D(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						CATCTCCTTCTTCATAGGTTT	0.299000													3	32					0	0	0.004672	0	0
OR3A4P	390756	broad.mit.edu	37	17	3213643	3213643	+	RNA	SNP	C	C	A			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr17:3213643C>A	ENST00000573491.1	-	0	359				OR3A4P_ENST00000323164.4_RNA														p.T13T(1)									CAGTTGTGACCAAGTTTGTCC	0.537000													28	104					1.30897e-18	1.89243e-18	0.041601	1	0
LRRC8C	84230	broad.mit.edu	37	1	90179493	90179493	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr1:90179493A>T	ENST00000370454.4	+	3	1619	c.1364A>T	c.(1363-1365)aAg>aTg	p.K455M	RP11-302M6.4_ENST00000370453.5_Intron|LRRC8C_ENST00000479252.1_Intron	NM_032270.4	NP_115646.2	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	455						endoplasmic reticulum membrane|integral to membrane		p.K455M(1)		breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		GAAATCATTAAGAACGTAATG	0.443000													36	100					0	0	0.054565	0	0
LHX8	431707	broad.mit.edu	37	1	75608973	75608973	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr1:75608973G>A	ENST00000294638.5	+	6	1224	c.560G>A	c.(559-561)aGa>aAa	p.R187K	LHX8_ENST00000356261.3_Missense_Mutation_p.R177K	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN	LIM homeobox 8	187	LIM zinc-binding 2.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R187K(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						GTCCTCTGCAGAGTACATTAT	0.393000													9	39					0	0	0.008291	0	0
LSM11	134353	broad.mit.edu	37	5	157181018	157181018	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr5:157181018A>G	ENST00000286307.5	+	3	651	c.595A>G	c.(595-597)Act>Gct	p.T199A		NM_173491.2	NP_775762.1	P83369	LSM11_HUMAN	LSM11, U7 small nuclear RNA associated	199	SM 1.				histone mRNA 3'-end processing|S phase of mitotic cell cycle|termination of RNA polymerase II transcription	histone pre-mRNA 3'end processing complex|nucleoplasm|U7 snRNP	protein binding|U7 snRNA binding	p.T199A(1)		breast(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	7	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTAGGCACTTACTGATGTGGA	0.403000													27	65					0	0	0.050027	0	0
VPS53	55275	broad.mit.edu	37	17	600722	600722	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr17:600722C>T	ENST00000437048.2	-	4	367	c.221G>A	c.(220-222)aGa>aAa	p.R74K	VPS53_ENST00000291074.5_Missense_Mutation_p.R74K|VPS53_ENST00000574029.1_Intron|VPS53_ENST00000446250.2_5'UTR|VPS53_ENST00000401468.3_Missense_Mutation_p.R74K|VPS53_ENST00000571805.1_Missense_Mutation_p.R74K	NM_001128159.2	NP_001121631.1	Q5VIR6	VPS53_HUMAN	vacuolar protein sorting 53 homolog (S. cerevisiae)	74					protein transport	endosome membrane|Golgi apparatus		p.R74K(2)		breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		GTCATCCAGTCTCCTAGCAAA	0.383000													44	111					0	0	0.048971	0	0
UBR4	23352	broad.mit.edu	37	1	19443790	19443790	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr1:19443790C>A	ENST00000375267.2	-	73	10751	c.10748G>T	c.(10747-10749)cGg>cTg	p.R3583L	UBR4_ENST00000375218.3_5'UTR|UBR4_ENST00000375254.3_Missense_Mutation_p.R3583L|UBR4_ENST00000375217.2_Missense_Mutation_p.R3576L|UBR4_ENST00000375226.2_Missense_Mutation_p.R3559L			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3583					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	p.R3583L(1)		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)		CATCTTGGTCCGTTTCAGATC	0.507000													68	127					1.43987e-31	2.38698e-31	0.048971	1	0
KIF18A	81930	broad.mit.edu	37	11	28106288	28106288	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr11:28106288C>A	ENST00000263181.6	-	7	1255	c.965G>T	c.(964-966)gGa>gTa	p.G322V		NM_031217.3	NP_112494.3	Q8NI77	KI18A_HUMAN	kinesin family member 18A	322					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	p.G322V(1)		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						TTGACAGTTTCCTCCAAGAGA	0.368000													16	63					3.45872e-05	3.7503e-05	0.028581	1	0
NAMPT	10135	broad.mit.edu	37	7	105903983	105903983	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr7:105903983G>T	ENST00000222553.3	-	7	1131	c.824C>A	c.(823-825)tCt>tAt	p.S275Y	NAMPT_ENST00000354289.4_Missense_Mutation_p.S275Y	NM_005746.2	NP_005737.1	P43490	NAMPT_HUMAN	nicotinamide phosphoribosyltransferase	275					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	p.S275Y(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						GCTGACCACAGATACAGGCAC	0.363000													19	79					1.2644e-06	1.4335e-06	0.055883	1	0
KIAA1211	57482	broad.mit.edu	37	4	57179457	57179457	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr4:57179457C>T	ENST00000504228.1	+	5	554	c.449C>T	c.(448-450)gCt>gTt	p.A150V	KIAA1211_ENST00000541073.1_Missense_Mutation_p.A143V|KIAA1211_ENST00000264229.6_Missense_Mutation_p.A150V			Q6ZU35	K1211_HUMAN	KIAA1211	150								p.A150V(1)		endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					CTGGCCATCGCTCGCCTGGAC	0.552000													63	158					0	0	0.048971	0	0
ZNF761	388561	broad.mit.edu	37	19	53952872	53952872	+	RNA	SNP	T	T	C			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr19:53952872T>C	ENST00000454407.1	+	0	576							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)		TGGAGAATTATAGGAACCTGG	0.473000													19	40					0	0	0.016522	0	0
TGM4	7047	broad.mit.edu	37	3	44916184	44916184	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr3:44916184C>T	ENST00000296125.4	+	1	82	c.14C>T	c.(13-15)tCa>tTa	p.S5L	TGM4_ENST00000471637.1_3'UTR	NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	5					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.S5L(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	ATGGATGCATCAAAAGGTGAG	0.567000													14	53					0	0	0.016723	0	0
KIAA0907	22889	broad.mit.edu	37	1	155886422	155886423	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr1:155886422_155886423delCT	ENST00000368320.3	-	12	1571_1572	c.1546_1547delAG	c.(1546-1548)gfs	p.R516fs	KIAA0907_ENST00000368321.3_Frame_Shift_Del_p.R516fs			Q7Z7F0	K0907_HUMAN	KIAA0907	516								p.R516fs*21(1)		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)			TTACCTGTCCCTCTCTCTCTCT	0.396													8	393	---	---	---	---					
NDUFAF7	55471	broad.mit.edu	37	2	37474741	37474742	+	Frame_Shift_Ins	INS	-	-	A			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr2:37474741_37474742insA	ENST00000002125.4	+	9	1119_1120	c.1079_1080insA	c.(1078-1080)taafs	p.*360fs	NDUFAF7_ENST00000336237.6_Frame_Shift_Ins_p.*262fs	NM_144736.4	NP_653337.1			NADH dehydrogenase (ubiquinone) complex I, assembly factor 7																		CACACATTTTTAAAAAATATGG	0.347													31	93	---	---	---	---					
AC092835.2	0	broad.mit.edu	37	2	95880476	95880478	+	RNA	DEL	TAC	TAC	-			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr2:95880476_95880478delTAC	ENST00000425953.1	+	0	975_977																											AGCCTTCAGTTACTACTCAGCTT	0.365													3	4	---	---	---	---					
HDLBP	3069	broad.mit.edu	37	2	242194509	242194509	+	Frame_Shift_Del	DEL	T	T	-			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr2:242194509delT	ENST00000391975.1	-	9	1372	c.1145delA	c.(1144-1146)agfs	p.K383fs	HDLBP_ENST00000427183.2_Frame_Shift_Del_p.K350fs|HDLBP_ENST00000391976.2_Frame_Shift_Del_p.K383fs|HDLBP_ENST00000310931.4_Frame_Shift_Del_p.K383fs	NM_203346.3	NP_976221.1	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	383	KH 4.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		CTGCCCTTTCTTGCCAATGAT	0.478													147	382	---	---	---	---					
RBM15B	29890	broad.mit.edu	37	3	51431352	51431353	+	Frame_Shift_Ins	INS	-	-	G			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr3:51431352_51431353insG	ENST00000323686.4	+	1	2622_2623	c.2522_2523insG	c.(2521-2523)gggfs	p.G841fs		NM_013286.4	NP_037418.3	Q8NDT2	RB15B_HUMAN	RNA binding motif protein 15B	841	Interaction with Epstein-Barr virus BMLF1.|SPOC.				interspecies interaction between organisms|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleoplasm	nucleotide binding|protein binding|RNA binding			endometrium(4)|large_intestine(5)|lung(3)	12				BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AGCTTGCCAGTGGGGGGGTCCA	0.609													24	64	---	---	---	---					
PIGG	54872	broad.mit.edu	37	4	514917	514919	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr4:514917_514919delAGC	ENST00000453061.2	+	7	1293_1295	c.1187_1189delAGC	c.(1186-1191)aat>a	p.KH396del	PIGG_ENST00000296306.7_Intron|PIGG_ENST00000504346.1_In_Frame_Del_p.KH307del|PIGG_ENST00000509768.1_In_Frame_Del_p.KH307del|PIGG_ENST00000383028.4_In_Frame_Del_p.KH263del|PIGG_ENST00000536264.1_In_Frame_Del_p.KH274del|PIGG_ENST00000503111.1_Intron|PIGG_ENST00000310340.5_In_Frame_Del_p.KH396del	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	396					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						TTGGAGGAAAAGCATTCAGAAGT	0.473													37	162	---	---	---	---					
HAUS3	79441	broad.mit.edu	37	4	2242588	2242591	+	Frame_Shift_Del	DEL	CAGT	CAGT	-			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr4:2242588_2242591delCAGT	ENST00000243706.4	-	2	312_315	c.83_86delACTG	c.(82-87)ggfs	p.DW28fs	HAUS3_ENST00000443786.2_Frame_Shift_Del_p.DW28fs|POLN_ENST00000511885.2_Intron|POLN_ENST00000515357.1_Intron|HAUS3_ENST00000506763.1_Frame_Shift_Del_p.DW28fs	NM_024511.5	NP_078787.2	Q68CZ6	HAUS3_HUMAN	HAUS augmin-like complex, subunit 3	28					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle				breast(3)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CTCAAACAACCAGTCAAAGTCTTC	0.373													31	139	---	---	---	---					
HERC3	8916	broad.mit.edu	37	4	89574037	89574038	+	Frame_Shift_Ins	INS	-	-	G			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr4:89574037_89574038insG	ENST00000402738.1	+	6	720_721	c.481_482insG	c.(481-483)gggfs	p.G161fs	HERC3_ENST00000264345.3_Frame_Shift_Ins_p.G161fs|HERC3_ENST00000407637.1_Frame_Shift_Ins_p.G161fs	NM_001271602.1|NM_014606.1	NP_001258531.1|NP_055421.1	Q15034	HERC3_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 3	161					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		GTTCTTCACCTGGGGAAAGAAC	0.495													12	51	---	---	---	---					
SEC24B	10427	broad.mit.edu	37	4	110454835	110454836	+	Frame_Shift_Ins	INS	-	-	A			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr4:110454835_110454836insA	ENST00000265175.5	+	22	3637_3638	c.3582_3583insA	c.(3580-3585)caaaatfs	p.N1195fs	SEC24B_ENST00000504968.2_Frame_Shift_Ins_p.N1225fs|SEC24B_ENST00000399100.2_Frame_Shift_Ins_p.N1160fs	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	1195					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		CAATACCACAGAAAATGGTCAG	0.282													11	141	---	---	---	---					
LOC728339	728339	broad.mit.edu	37	4	190818970	190818974	+	RNA	DEL	AGGAA	AGGAA	-			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr4:190818970_190818974delAGGAA	ENST00000511785.1	-	0	231																											agggagagcgaggaaaggaaaggaa	0.483													4	3	---	---	---	---					
SLC39A4	55630	broad.mit.edu	37	8	145637952	145637954	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr8:145637952_145637954delCAG	ENST00000276833.5	-	11	2140_2142	c.1837_1839delCTG	c.(1837-1839)del	p.L613del	SLC39A4_ENST00000301305.3_In_Frame_Del_p.L638del|SLC39A4_ENST00000531013.1_5'UTR	NM_017767.2	NP_060237.2	Q6P5W5	S39A4_HUMAN	solute carrier family 39 (zinc transporter), member 4	638						cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane	zinc ion transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	14	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-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;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)			CGTACAGGGACAGCAGCAGCAGG	0.601													7	485	---	---	---	---					
SIK2	23235	broad.mit.edu	37	11	111594606	111594606	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr11:111594606delC	ENST00000304987.3	+	15	2707	c.2534delC	c.(2533-2535)tcfs	p.S845fs		NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	845					intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						TTACAGTTCTCCTATCAGACT	0.642													12	35	---	---	---	---					
ITGBL1	9358	broad.mit.edu	37	13	102105283	102105286	+	Splice_Site	DEL	GTAA	GTAA	-			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr13:102105283_102105286delGTAA	ENST00000376180.3	+	1	317		c.e1+1		ITGBL1_ENST00000545560.2_Splice_Site	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat domains)						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)					CATCTCTGAGGTAAGTTTGGTTTG	0.520													27	88	---	---	---	---					
IRS2	8660	broad.mit.edu	37	13	110435612	110435613	+	Frame_Shift_Ins	INS	-	-	G			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr13:110435612_110435613insG	ENST00000375856.3	-	1	3302_3303	c.2788_2789insC	c.(2788-2790)cctfs	p.P930fs		NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	930					fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus	cytosol|plasma membrane	insulin receptor binding|signal transducer activity	p.R930fs*61(1)		kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			CGGCGACAGGCGGGCCCCGGGC	0.738													3	5	---	---	---	---					
DNM1P47	100216544	broad.mit.edu	37	15	102299886	102299887	+	RNA	INS	-	-	G			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr15:102299886_102299887insG	ENST00000561463.1	+	0	7932_7933																											AACCTGTACTCGCGTCGGAACC	0.589													2	4	---	---	---	---					
ITGA3	3675	broad.mit.edu	37	17	48148712	48148713	+	Frame_Shift_Ins	INS	-	-	A			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr17:48148712_48148713insA	ENST00000320031.8	+	6	1119_1120	c.789_790insA	c.(787-792)ccaaaafs	p.PK263fs	ITGA3_ENST00000007722.7_Frame_Shift_Ins_p.PK263fs|ITGA3_ENST00000544892.1_Frame_Shift_Ins_p.PK38fs	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	263					blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						TCCTGCACCCCAAAAACATCAC	0.574													19	58	---	---	---	---					
NR2C2AP	126382	broad.mit.edu	37	19	19313820	19313820	+	Splice_Site	DEL	A	A	-			TCGA-05-4418-01A-01D-1265-08	TCGA-05-4418-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07397ae-592b-4eb4-98b3-7c7e81ecb5e0	87327c8c-1c44-418e-be9e-f19acb730fb5	g.chr19:19313820delA	ENST00000590907.2	-	1	87		c.e1+1		NR2C2AP_ENST00000420605.2_Intron|NR2C2AP_ENST00000544883.1_Intron|NR2C2AP_ENST00000331552.6_Intron|NR2C2AP_ENST00000538165.2_Intron			Q86WQ0	NR2CA_HUMAN	nuclear receptor 2C2-associated protein						cell adhesion|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm				breast(1)|cervix(1)|kidney(2)|ovary(1)	5			Epithelial(12;0.00235)			GCCTGTCCCCACAGACTCTTA	0.617													22	36	---	---	---	---					
