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
NSUN3	63899	broad.mit.edu	37	3	93803223	93803223	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:93803223G>T	uc003drl.1	+	2	511	c.395G>T	c.(394-396)gGg>gTg	p.G132V		NM_022072	NP_071355	Q9H649	NSUN3_HUMAN	Homo sapiens NOP2/Sun domain family, member 3 (NSUN3), mRNA.	132							methyltransferase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	18						TTAAGGGATGGGGAGAAGGTT	0.453000													6	133					0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187527260	187527260	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr4:187527260G>T	uc003izf.3	-	16	10502	c.10314C>A	c.(10312-10314)ccC>ccA	p.P3438P		NM_005245	NP_005236	Q14517	FAT1_HUMAN	Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.	3438	Cadherin 31.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	p.P3438P(2)|p.P3441P(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TGGAGAAGACGGGCGCGTTGT	0.522000										HNSCC(5;0.00058)			5	137					0	0	1	0	0
OR1J2	26740	broad.mit.edu	37	9	125273777	125273777	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:125273777G>T	uc011lyv.2	+	0	697	c.697G>T	c.(697-699)Ggg>Tgg	p.G233W	OR1J2_uc004bmj.2_Missense_Mutation_p.G233W	NM_054107	NP_473448	Q8NGS2	OR1J2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily J, member 2 (OR1J2), mRNA.	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						TTCAACCAAAGGGATCCACAA	0.498000													6	224					0	0	1	0	0
CCS	9973	broad.mit.edu	37	11	66367007	66367007	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:66367007C>A	uc001oir.3	+	3	371	c.328C>A	c.(328-330)Cct>Act	p.P110T		NM_005125	NP_005116	O14618	CCS_HUMAN	Homo sapiens copper chaperone for superoxide dismutase (CCS), mRNA.	110	Superoxide dismutase-like.				intracellular copper ion transport|oxidation-reduction process|removal of superoxide radicals	cytosol|mitochondrial inner membrane|nucleus|soluble fraction	copper ion transmembrane transporter activity|protein binding|superoxide dismutase copper chaperone activity|zinc ion binding			breast(2)|cervix(1)|large_intestine(2)|lung(3)|stomach(1)	9						ACAGCTGACCCCTGAGCGCTG	0.612000													4	38					0	0	1	0	0
IGDCC4	57722	broad.mit.edu	37	15	65685846	65685846	+	Nonsense_Mutation	SNP	G	G	A	rs138576438		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr15:65685846G>A	uc002aou.1	-	9	1948	c.1738C>T	c.(1738-1740)Cga>Tga	p.R580*	IGDCC4_uc002aot.1_Nonsense_Mutation_p.R168*	NM_020962	NP_066013	Q8TDY8	IGDC4_HUMAN	Homo sapiens immunoglobulin superfamily, DCC subclass, member 4 (IGDCC4), mRNA.	580	Fibronectin type-III 2.					integral to membrane|plasma membrane		p.R580*(2)		NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						TCATTTCCTCGCACCTCAGTA	0.552000													32	83					0	0	1	0	0
PPIB	5479	broad.mit.edu	37	15	64449052	64449052	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr15:64449052C>A	uc002and.3	-	3	569	c.400G>T	c.(400-402)Ggg>Tgg	p.G134W	SNX22_uc002anc.1_3'UTR|SNX22_uc021sow.1_Non-coding_Transcript	NM_000942	NP_000933	P23284	PPIB_HUMAN	Homo sapiens peptidylprolyl isomerase B (cyclophilin B) (PPIB), mRNA.	134	PPIase cyclophilin-type.				protein folding	endoplasmic reticulum lumen|melanosome	peptide binding|peptidyl-prolyl cis-trans isomerase activity|unfolded protein binding			kidney(2)|large_intestine(2)|lung(6)	10					L-Proline(DB00172)	CAGCCAGGCCCGTAGTGCTTC	0.562000													6	150					0	0	1	0	0
NEFH	4744	broad.mit.edu	37	22	29885868	29885868	+	Missense_Mutation	SNP	C	C	A	rs59890097		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr22:29885868C>A	uc003afo.3	+	3	2310	c.2239C>A	c.(2239-2241)Cca>Aca	p.P747T	KIAA0845_uc003afp.3_5'UTR	NM_021076	NP_066554	P12036	NFH_HUMAN	Homo sapiens neurofilament, heavy polypeptide (NEFH), mRNA.	753	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.				cell death|nervous system development	neurofilament				cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						AGCTAAGTCCCCAGAGAAGGC	0.552000													5	116					0	0	1	0	0
HBB	3043	broad.mit.edu	37	11	5247873	5247873	+	Missense_Mutation	SNP	C	C	A	rs33991993		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:5247873C>A	uc001mae.1	-	1	299	c.249G>T	c.(247-249)aaG>aaT	p.K83N	CoTC_ribozyme_uc021qcu.1_5'Flank	NM_000518	NP_000509	P68871	HBB_HUMAN	Homo sapiens hemoglobin, beta (HBB), mRNA.	83		Not glycated.	K -> M (in Helsinki; O(2) affinity up).|K -> N (in Providence).		blood coagulation|hydrogen peroxide catabolic process|nitric oxide transport|positive regulation of cell death|positive regulation of nitric oxide biosynthetic process|protein heterooligomerization|regulation of blood pressure|regulation of blood vessel size	haptoglobin-hemoglobin complex|hemoglobin complex	heme binding|hemoglobin binding|oxygen binding|oxygen transporter activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)	15		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	Iron Dextran(DB00893)	CAAAGGTGCCCTTGAGGTTGT	0.537000									Sickle Cell Trait				6	142					0	0	1	0	0
ACTL7B	10880	broad.mit.edu	37	9	111617062	111617062	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:111617062G>T	uc004bdi.3	-	0	1214	c.1149C>A	c.(1147-1149)ggC>ggA	p.G383G		NM_006686	NP_006677	Q9Y614	ACL7B_HUMAN	Homo sapiens actin-like 7B (ACTL7B), mRNA.	383						actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton	p.G383G(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						GGATGGAACCGCCGGTCCACA	0.657000													3	28					0	0	1	0	0
PLEKHG4B	153478	broad.mit.edu	37	5	144953	144953	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:144953G>T	uc003jak.2	+	3	805	c.755G>T	c.(754-756)cGg>cTg	p.R252L		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4B (PLEKHG4B), mRNA.	252					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		AAAGAGGTCCGGGACCTGGGG	0.557000													3	70					0	0	1	0	0
ALDH1B1	219	broad.mit.edu	37	9	38396013	38396013	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:38396013G>T	uc022bgy.1	+	0	268	c.268G>T	c.(268-270)Ggg>Tgg	p.G90W	ALDH1B1_uc004aay.3_Missense_Mutation_p.G90W	NM_000692	NP_000683	P30837	AL1B1_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member B1 (ALDH1B1), nuclear gene encoding mitochondrial protein, mRNA.	90					carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity			NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	NADH(DB00157)	CTTCCGCCTGGGGTCCCCATG	0.667000													5	143					0	0	1	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	118020	118020	+	RNA	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chrGL000205.1:118020G>T	uc002kgk.4	+	0		c.1398G>T								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		AGAATACGAGGGGCAGCCCTC	0.567000													10	312					0	0	1	0	0
JAK3	3718	broad.mit.edu	37	19	17943457	17943457	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:17943457G>T	uc002nhn.4	-	18	2651	c.2551C>A	c.(2551-2553)Ctg>Atg	p.L851M	JAK3_uc010ebh.3_Intron|JAK3_uc002nho.2_Missense_Mutation_p.L851M	NM_000215	NP_000206	P52333	JAK3_HUMAN	Homo sapiens Janus kinase 3 (JAK3), mRNA.	851	Protein kinase 2.				B cell differentiation|T cell homeostasis|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of FasL biosynthetic process|negative regulation of T-helper 1 cell differentiation|negative regulation of dendritic cell cytokine production|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						ACGGCCACCAGGGCACCTGTA	0.587000		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""								5	140					0	0	1	0	0
WBSCR28	135886	broad.mit.edu	37	7	73279465	73279465	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr7:73279465C>A	uc003tzk.2	+	1	251	c.215C>A	c.(214-216)cCc>cAc	p.P72H	WBSCR28_uc003tzl.2_5'UTR	NM_182504	NP_872310	Q6UE05	WBS28_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 28 (WBSCR28), mRNA.	72						integral to membrane				breast(2)|kidney(2)|lung(6)|skin(1)	11		Lung NSC(55;0.159)				GCAGCCTGCCCCCTGGGCCAG	0.667000													8	198					0	0	1	0	0
MBD2	8932	broad.mit.edu	37	18	51690931	51690931	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr18:51690931G>T	uc002lfg.2	-	4	1300	c.1071C>A	c.(1069-1071)ccC>ccA	p.P357P		NM_003927	NP_003918	Q9UBB5	MBD2_HUMAN	Homo sapiens methyl-CpG binding domain protein 2 (MBD2), transcript variant 1, mRNA.	357					transcription, DNA-dependent		C2H2 zinc finger domain binding|methyl-CpG binding|satellite DNA binding			breast(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8				Colorectal(16;0.0212)|READ - Rectum adenocarcinoma(32;0.188)	Hexobarbital(DB01355)	CTTTGCAGAGGGGTTGAGATG	0.438000													7	165					0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139737668	139737668	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr8:139737668G>T	uc003yvd.3	-	23	2602	c.2155C>A	c.(2155-2157)Cct>Act	p.P719T	COL22A1_uc011ljo.2_Missense_Mutation_p.P19T	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	719	Collagen-like 5.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity	p.P718T(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)			GGGACACCAGGGGGTCCTGGA	0.582000										HNSCC(7;0.00092)			7	229					0	0	1	0	0
B3GNT5	84002	broad.mit.edu	37	3	182987919	182987919	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:182987919G>T	uc003flm.3	+	1	856	c.333G>T	c.(331-333)tgG>tgT	p.W111C	MCF2L2_uc003fli.1_Intron|MCF2L2_uc003flj.1_Intron|MCF2L2_uc011bqr.1_Intron|B3GNT5_uc003flk.3_Missense_Mutation_p.W111C|B3GNT5_uc003fll.3_Missense_Mutation_p.W111C|B3GNT5_uc021xic.1_Missense_Mutation_p.W111C	NM_032047	NP_114436	Q9BYG0	B3GN5_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5 (B3GNT5), mRNA.	111					central nervous system development|glycolipid biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity|galactosyltransferase activity	p.T110T(1)		endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8	all_cancers(143;8.52e-13)|Ovarian(172;0.0355)		all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			GAAGGACGTGGGGCAATGAAA	0.428000													5	130					0	0	1	0	0
GPR17	2840	broad.mit.edu	37	2	128408804	128408804	+	Silent	SNP	G	G	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:128408804G>A	uc010yzn.2	+	3	1190	c.579G>A	c.(577-579)ccG>ccA	p.P193P	LIMS2_uc002tox.3_Intron|LIMS2_uc010fmb.3_Intron|LIMS2_uc002toy.3_Intron|LIMS2_uc002tpa.3_Intron|LIMS2_uc002toz.3_Intron|LIMS2_uc010yzm.2_Intron|LIMS2_uc002tpb.3_Intron|GPR17_uc002tpc.3_Silent_p.P193P|GPR17_uc010yzo.2_Silent_p.P165P|GPR17_uc002tpd.3_Silent_p.P165P	NM_001161415	NP_001154889	Q13304	GPR17_HUMAN	Homo sapiens G protein-coupled receptor 17 (GPR17), transcript variant 1, mRNA.	193						integral to plasma membrane	chemokine receptor activity|purinergic nucleotide receptor activity, G-protein coupled	p.P193P(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)|urinary_tract(1)	19	Colorectal(110;0.1)	Ovarian(717;0.15)		BRCA - Breast invasive adenocarcinoma(221;0.0677)		CCATGGCCCCGCTGCTGGTGA	0.667000													45	106					0	0	1	0	0
NR1H3	10062	broad.mit.edu	37	11	47281462	47281462	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:47281462G>T	uc009ylm.3	+	2	414	c.164G>T	c.(163-165)gGg>gTg	p.G55V	NR1H3_uc010rhk.2_Missense_Mutation_p.G61V|NR1H3_uc009yll.2_Missense_Mutation_p.G61V|NR1H3_uc001nek.3_Missense_Mutation_p.G10V|NR1H3_uc001nen.4_Missense_Mutation_p.G55V|NR1H3_uc001nem.3_Missense_Mutation_p.G55V	NM_005693	NP_005684	Q13133	NR1H3_HUMAN	Homo sapiens nuclear receptor subfamily 1, group H, member 3 (NR1H3), transcript variant 1, mRNA.	55					apoptotic cell clearance|cellular response to lipopolysaccharide|cholesterol homeostasis|negative regulation of cholesterol storage|negative regulation of inflammatory response|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage activation|negative regulation of pancreatic juice secretion|negative regulation of pinocytosis|negative regulation of secretion of lysosomal enzymes|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of cholesterol homeostasis|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor biosynthetic process|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of circadian rhythm|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to progesterone stimulus|triglyceride homeostasis	nuclear chromatin|nucleoplasm	cholesterol binding|steroid hormone receptor activity|sterol response element binding|transcription coactivator activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						GGTACTGCAGGGGTGGGGCTG	0.657000											OREG0020956	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	31					0	0	1	0	0
GPR83	10888	broad.mit.edu	37	11	94134379	94134379	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:94134379G>T	uc001pet.2	-	0	207	c.35C>A	c.(34-36)cCc>cAc	p.P12H		NM_016540	NP_057624	Q9NYM4	GPR83_HUMAN	Homo sapiens G protein-coupled receptor 83 (GPR83), mRNA.	12						integral to membrane|plasma membrane	neuropeptide Y receptor activity			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TCGCACCAAGGGGAGGAGACA	0.706000													5	59					0	0	1	0	0
MRGPRX3	117195	broad.mit.edu	37	11	18159642	18159642	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:18159642C>T	uc021qek.1	+	0	893	c.893C>T	c.(892-894)aCg>aTg	p.T298M	MRGPRX3_uc001mnu.3_Missense_Mutation_p.T298M	NM_054031	NP_473372	Q96LB0	MRGX3_HUMAN	Homo sapiens MAS-related GPR, member X3 (MRGPRX3), mRNA.	298						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.T298M(2)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						CTGCAGGACACGCCTGAGGTG	0.562000													10	80					0	0	1	0	0
PRAMEF2	65122	broad.mit.edu	37	1	12921090	12921090	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:12921090C>A	uc001aum.1	+	3	968	c.881C>A	c.(880-882)cCc>cAc	p.P294H		NM_023014	NP_075390	O60811	PRAM2_HUMAN	Homo sapiens PRAME family member 2 (PRAMEF2), mRNA.	294								p.P294T(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTCCAGAACCCCTTGGAGAAC	0.463000													8	237					0	0	1	0	0
CDC45	8318	broad.mit.edu	37	22	19504130	19504130	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr22:19504130G>T	uc011aha.2	+	16	1695	c.1617G>T	c.(1615-1617)gtG>gtT	p.V539V	CDC45_uc002zpr.3_Silent_p.V507V|CDC45_uc002zpt.3_Silent_p.V461V	NM_001178010	NP_001171481	O75419	CDC45_HUMAN	Homo sapiens cell division cycle 45 homolog (S. cerevisiae) (CDC45), transcript variant 1, mRNA.	507					DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle	centrosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						TGACCGTGGTGGGCATCCCCC	0.612000													4	60					0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129785457	129785457	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:129785457G>T	uc021zfb.1	+	49	7120	c.7015G>T	c.(7015-7017)Ggg>Tgg	p.G2339W	LAMA2_uc003qbn.3_Missense_Mutation_p.G2337W|LAMA2_uc003qbo.3_Missense_Mutation_p.G2337W	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	2339					cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		AGATAGTGAGGGGACTATTCA	0.418000													8	272					0	0	1	0	0
TBC1D5	9779	broad.mit.edu	37	3	17413571	17413571	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:17413571C>A	uc010hev.3	-	13	1255	c.991G>T	c.(991-993)Ggg>Tgg	p.G331W	TBC1D5_uc003cbf.3_Missense_Mutation_p.G331W|TBC1D5_uc003cbe.3_Missense_Mutation_p.G331W|TBC1D5_uc010hew.1_Missense_Mutation_p.G283W	NM_001134381	NP_001127853	Q92609	TBCD5_HUMAN	Homo sapiens TBC1 domain family, member 5 (TBC1D5), transcript variant 1, mRNA.	331	Rab-GAP TBC.					intracellular	Rab GTPase activator activity|protein binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						ACTTACAACCCATATATCTGT	0.383000													5	145					0	0	1	0	0
RPTOR	57521	broad.mit.edu	37	17	78796034	78796034	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:78796034C>A	uc002jyt.1	+	7	1729	c.924C>A	c.(922-924)ccC>ccA	p.P308P	RPTOR_uc002jys.3_Silent_p.P308P|RPTOR_uc010wuf.1_Silent_p.P123P|RPTOR_uc010wug.1_Silent_p.P308P	NM_020761	NP_065812	Q8N122	RPTOR_HUMAN	Homo sapiens regulatory associated protein of MTOR, complex 1 (RPTOR), transcript variant 1, mRNA.	308					TOR signaling cascade|cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of TOR signaling cascade|positive regulation of protein serine/threonine kinase activity	TORC1 complex|cytosol|lysosome	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						GGAGGACGCCCCTGGGTGAAC	0.622000													11	417					0	0	1	0	0
ZNF688	146542	broad.mit.edu	37	16	30581354	30581354	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr16:30581354C>A	uc002dyt.2	-	2	1492	c.714G>T	c.(712-714)ggG>ggT	p.G238G	ZNF688_uc002dys.2_Silent_p.G224G|ZNF785_uc002dyu.3_5'Flank	NM_145271	NP_660314	P0C7X2	ZN688_HUMAN	Homo sapiens zinc finger protein 688 (ZNF688), transcript variant 1, mRNA.	238					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)	8						CCCGCCGCCCCCCGGAGCAGG	0.706000													4	32					0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127670475	127670475	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:127670475C>A	uc003kuu.3	-	30	4474	c.4035G>T	c.(4033-4035)aaG>aaT	p.K1345N	FBN2_uc003kuv.2_Missense_Mutation_p.K1312N	NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	1345	EGF-like 21; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TGAAGGATCCCTTTGTGTTCT	0.388000													7	186					0	0	1	0	0
COL23A1	91522	broad.mit.edu	37	5	177715351	177715351	+	Splice_Site	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:177715351C>A	uc021yiz.1	-	5	773	c.415_splice	c.e5-1	p.G139_splice	COL23A1_uc021yiy.1_Splice_Site	NM_173465	NP_775736	Q86Y22	CONA1_HUMAN	Homo sapiens collagen, type XXIII, alpha 1 (COL23A1), mRNA.	139	Collagen-like 1.|Gly-rich.					collagen|integral to membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)		CCTGATTGCCCCTGTGGTAAT	0.443000													6	213					0	0	1	0	0
DDX11L11	0	broad.mit.edu	37	12	92000	92000	+	Missense_Mutation	SNP	A	A	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:92000A>T	uc010sdi.1	-	1	338	c.310T>A	c.(310-312)Ttg>Atg	p.L104M	DDX11L11_uc010sdj.1_Non-coding_Transcript					SubName: Full=DEAD/H box polypeptide 11 like 11;																		GGTCCTGGCAACACTCTGGAC	0.572000													3	4					0	0	1	0	0
RRM1	6240	broad.mit.edu	37	11	4144501	4144501	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:4144501C>A	uc001lyw.4	+	11	1526	c.1207C>A	c.(1207-1209)Ccg>Acg	p.P403T	RRM1_uc009yej.2_Non-coding_Transcript|RRM1_uc009yei.3_Missense_Mutation_p.P363T|RRM1_uc010qyc.2_Missense_Mutation_p.P306T|RRM1_uc010qyd.2_Missense_Mutation_p.P65T	NM_001033	NP_001024	P23921	RIR1_HUMAN	Homo sapiens ribonucleotide reductase M1 (RRM1), mRNA.	403					DNA replication|deoxyribonucleotide biosynthetic process|nucleobase, nucleoside and nucleotide interconversion	cytosol|nucleoplasm|ribonucleoside-diphosphate reductase complex	ATP binding|ribonucleoside-diphosphate reductase activity	p.P403Q(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)	14		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)	AACAGGCACCCCGTATATGCT	0.463000													7	202					0	0	1	0	0
AIPL1	23746	broad.mit.edu	37	17	6331819	6331819	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:6331819C>A	uc002gcp.3	-	2	379	c.284G>T	c.(283-285)gGg>gTg	p.G95V	AIPL1_uc021toq.1_Missense_Mutation_p.G56V|AIPL1_uc002gcq.3_Missense_Mutation_p.G35V|AIPL1_uc002gcr.3_Intron|AIPL1_uc010clk.3_Missense_Mutation_p.G73V|AIPL1_uc010cll.3_Missense_Mutation_p.G95V|AIPL1_uc021tor.1_Missense_Mutation_p.G95V|AIPL1_uc002gcs.3_Missense_Mutation_p.G95V	NM_014336	NP_055151	Q9NZN9	AIPL1_HUMAN	Homo sapiens aryl hydrocarbon receptor interacting protein-like 1 (AIPL1), transcript variant 1, mRNA.	95	PPIase FKBP-type.				protein farnesylation|protein folding|visual perception	cytoplasm|nucleus	farnesylated protein binding|unfolded protein binding			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	12				COAD - Colon adenocarcinoma(228;0.141)		GGGGTAGACCCCCGTGTGCTG	0.637000													6	91					0	0	1	0	0
PLOD1	5351	broad.mit.edu	37	1	12024347	12024347	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:12024347G>T	uc010obb.2	+	12	1572	c.1459G>T	c.(1459-1461)Ggg>Tgg	p.G487W	PLOD1_uc001atm.3_Missense_Mutation_p.G440W	NM_000302	NP_000293	Q02809	PLOD1_HUMAN	Homo sapiens procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 (PLOD1), mRNA.	440					epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity	p.G440W(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)	CATTGTGCAGGGGCGGCGTGT	0.617000													7	213					0	0	1	0	0
C12orf51	283450	broad.mit.edu	37	12	112622379	112622379	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:112622379G>T	uc021reb.1	-	60	10385	c.9989C>A	c.(9988-9990)cCc>cAc	p.P3330H		NM_001109662	NP_001103132			Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA.											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6)	100						GTCTGTGCCGGGGAAGGCCAG	0.632000													5	55					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215820984	215820984	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:215820984C>A	uc001hku.1	-	66	15058	c.14671G>T	c.(14671-14673)Ggg>Tgg	p.G4891W		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	4891	Fibronectin type-III 34.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GCTTTCTGCCCCAGCCCCGTG	0.557000										HNSCC(13;0.011)			6	92					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64593108	64593108	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr14:64593108C>A	uc001xgl.3	+	71	13848	c.13618C>A	c.(13618-13620)Ctc>Atc	p.L4540I	SYNE2_uc001xgm.3_Missense_Mutation_p.L4540I|SYNE2_uc021ruh.1_Missense_Mutation_p.L4491I|SYNE2_uc010apy.3_Missense_Mutation_p.L925I|SYNE2_uc010apz.1_Missense_Mutation_p.L432I	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	4540					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		ATTCCTGACCCTCAGTCAGTG	0.423000													5	151					0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	3990604	3990604	+	Silent	SNP	G	G	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr7:3990604G>A	uc003smx.3	+	5	1036	c.897G>A	c.(895-897)ccG>ccA	p.P299P		NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	299	Ig-like C2-type 3.				cell adhesion	integral to membrane		p.P299P(2)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TGGTTCCCCCGGGCAACAGAA	0.522000													36	68					0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144942361	144942361	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr8:144942361C>A	uc003zaa.1	-	0	5074	c.5061G>T	c.(5059-5061)acG>acT	p.T1687T		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	1687						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGATGCCGCCCGTGGCGATCT	0.672000													5	142					0	0	1	0	0
PSPC1	55269	broad.mit.edu	37	13	20356679	20356679	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr13:20356679C>A	uc021rgx.1	-	1	356	c.219G>T	c.(217-219)ccG>ccT	p.P73P		NM_001042414	NP_001035879	Q8WXF1	PSPC1_HUMAN	Homo sapiens paraspeckle component 1 (PSPC1), transcript variant 1, mRNA.	73					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleolus	RNA binding|nucleotide binding|protein binding			breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)		TCTTCTCGCCCGGCTTGAGGA	0.642000													4	90					0	0	1	0	0
INPP4A	3631	broad.mit.edu	37	2	99182103	99182103	+	Splice_Site	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:99182103G>T	uc002syy.3	+	21	2561	c.2168_splice	c.e21-1	p.G723_splice	INPP4A_uc010yvj.1_Splice_Site_p.G684_splice|INPP4A_uc010yvk.2_Splice_Site_p.G684_splice|INPP4A_uc002syx.3_Splice_Site_p.G718_splice|INPP4A_uc010fik.3_Intron	NM_001134224	NP_001127696	Q96PE3	INP4A_HUMAN	Homo sapiens inositol polyphosphate-4-phosphatase, type I, 107kDa (INPP4A), transcript variant d, mRNA.	723					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						TCATGTCCAGGGGAGGAGCTG	0.617000													4	61					0	0	1	0	0
MOGS	7841	broad.mit.edu	37	2	74690103	74690103	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:74690103G>T	uc010ffj.3	-	3	976	c.813C>A	c.(811-813)ccC>ccA	p.P271P	MOGS_uc010ffh.3_5'UTR|MOGS_uc010yrt.2_Silent_p.P152P|MOGS_uc010ffi.3_Silent_p.P165P|MOGS_uc010yru.1_3'UTR	NM_006302	NP_001139630	Q13724	MOGS_HUMAN	Homo sapiens mannosyl-oligosaccharide glucosidase (MOGS), transcript variant 1, mRNA.	271					oligosaccharide metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity			cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						CTGTCAGCAGGGGCAGTCCTG	0.517000													9	323					0	0	1	0	0
EFCAB6	64800	broad.mit.edu	37	22	44178084	44178084	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr22:44178084G>T	uc003bdy.2	-	2	429	c.115C>A	c.(115-117)Cca>Aca	p.P39T	EFCAB6_uc003bdz.2_Intron|EFCAB6_uc010gzi.2_5'UTR|EFCAB6_uc011aqa.2_Silent_p.P3P|EFCAB6_uc003bea.2_Missense_Mutation_p.P36T|EFCAB6_uc003beb.4_Silent_p.P3P	NM_022785	NP_942153	Q5THR3	EFCB6_HUMAN	Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA.	39					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				AACTTATTTGGGGAACCATTC	0.358000													8	267					0	0	1	0	0
ACTR8	93973	broad.mit.edu	37	3	53905310	53905310	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:53905310C>A	uc003dhd.3	-	10	1617	c.1516G>T	c.(1516-1518)Gga>Tga	p.G506*	ACTR8_uc003dhb.3_Nonsense_Mutation_p.G211*|ACTR8_uc003dhc.3_Nonsense_Mutation_p.G395*	NM_022899	NP_075050	Q9H981	ARP8_HUMAN	Homo sapiens ARP8 actin-related protein 8 homolog (yeast) (ACTR8), mRNA.	506					DNA recombination|DNA repair|cell division|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex	protein binding	p.G506*(2)|p.G211*(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)		AGGGCTTTTCCTTCAAACAGC	0.547000													6	234					0	0	1	0	0
FNDC3B	64778	broad.mit.edu	37	3	172070714	172070714	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:172070714C>A	uc003fhy.3	+	21	2808	c.2636C>A	c.(2635-2637)cCt>cAt	p.P879H	FNDC3B_uc003fhz.4_Missense_Mutation_p.P879H	NM_022763	NP_073600	Q53EP0	FND3B_HUMAN	Homo sapiens fibronectin type III domain containing 3B (FNDC3B), transcript variant 1, mRNA.	879	Fibronectin type-III 7.					endoplasmic reticulum|integral to membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		GATGCCTACCCTGATTCACCT	0.547000													5	141					0	0	1	0	0
ACCS	84680	broad.mit.edu	37	11	44092864	44092864	+	Splice_Site	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:44092864G>T	uc009yks.1	+	3	492	c.348_splice	c.e3+1	p.R116_splice	ACCS_uc010rfm.1_Splice_Site_p.R43_splice|ACCS_uc010rfn.2_Splice_Site_p.R116_splice|ACCS_uc001mxx.2_Splice_Site_p.R116_splice	NM_001127219	NP_115981	Q96QU6	1A1L1_HUMAN	Homo sapiens 1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional) (ACCS), transcript variant 2, mRNA.	116							1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						CTGTCCTGGCGGGTAAGTCCT	0.582000													6	206					0	0	1	0	0
TCHHL1	126637	broad.mit.edu	37	1	152057905	152057905	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:152057905G>T	uc001ezo.1	-	2	2318	c.2253C>A	c.(2251-2253)ccC>ccA	p.P751P		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	Homo sapiens trichohyalin-like 1 (TCHHL1), mRNA.	751							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			CCAGCTCTTGGGGACTTTCAT	0.453000													10	399					0	0	1	0	0
KIR3DL3	115653	broad.mit.edu	37	19	55246771	55246771	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:55246771C>A	uc002qgu.1	+	5	1019	c.1001C>A	c.(1000-1002)cCc>cAc	p.P334H		NM_153443	NP_703144	Q8N743	KI3L3_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3 (KIR3DL3), mRNA.	334						integral to membrane|plasma membrane	receptor activity	p.P334L(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(3)|prostate(1)|skin(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		GTCATCATCCCCTTTGCTATC	0.498000													6	107					0	0	1	0	0
STAT3	6774	broad.mit.edu	37	17	40474448	40474448	+	Silent	SNP	A	A	G			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:40474448A>G	uc002hzl.1	-	20	2193	c.1953T>C	c.(1951-1953)gcT>gcC	p.A651A	STAT3_uc002hzk.1_Silent_p.A651A|STAT3_uc002hzm.1_Silent_p.A651A|STAT3_uc010wgh.1_Silent_p.A553A|STAT3_uc002hzn.1_Silent_p.A651A	NM_139276	NP_644805	P40763	STAT3_HUMAN	Homo sapiens signal transducer and activator of transcription 3 (acute-phase response factor) (STAT3), transcript variant 1, mRNA.	651	SH2.				JAK-STAT cascade involved in growth hormone signaling pathway|cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding	p.A651A(2)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		TGATGATTTCAGCAAATGACA	0.473000									Hyperimmunoglobulin E Recurrent Infection Syndrome				98	239					0	0	1	0	0
CCDC71	64925	broad.mit.edu	37	3	49201177	49201177	+	Silent	SNP	C	C	A	rs142878485		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:49201177C>A	uc003cwg.4	-	1	603	c.465G>T	c.(463-465)cgG>cgT	p.R155R	CCDC71_uc021wxs.1_Silent_p.R155R	NM_022903	NP_075054	Q8IV32	CCD71_HUMAN	Homo sapiens coiled-coil domain containing 71 (CCDC71), mRNA.	155										endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	10				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CTGCTGCACCCCGGGCATGGC	0.592000													4	72					0	0	1	0	0
SUGP2	10147	broad.mit.edu	37	19	19115332	19115332	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:19115332C>A	uc002nkz.1	-	6	2636	c.2616G>T	c.(2614-2616)acG>acT	p.T872T	SUGP2_uc002nkx.2_Silent_p.T858T|SUGP2_uc002nla.1_Silent_p.T858T|SUGP2_uc002nlb.2_Silent_p.T858T|SUGP2_uc010xqk.1_Silent_p.T627T	NM_014884	NP_055699	Q8IX01	SUGP2_HUMAN	Homo sapiens SURP and G patch domain containing 2 (SUGP2), transcript variant 2, mRNA.	858	Asp/Glu-rich.				RNA splicing|mRNA processing	nucleus	RNA binding	p.T858T(1)		NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						CCTGAGAACCCGTGGTGTCAC	0.537000													5	157					0	0	1	0	0
CHD7	55636	broad.mit.edu	37	8	61654708	61654708	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr8:61654708C>A	uc003xue.3	+	1	1209	c.717C>A	c.(715-717)ccC>ccA	p.P239P	CHD7_uc022aux.1_Silent_p.P239P	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 7 (CHD7), mRNA.	239					T cell differentiation|central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|chromatin binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CCCACGTGCCCCAGCAGAGTC	0.577000													6	231					0	0	1	0	0
GGA1	26088	broad.mit.edu	37	22	38010280	38010280	+	Splice_Site	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr22:38010280G>T	uc003atc.3	+	2	515	c.128_splice	c.e2+1	p.G43_splice	GGA1_uc003atb.3_Splice_Site_p.G43_splice|GGA1_uc003ate.3_Splice_Site_p.G43_splice|GGA1_uc003atd.3_Splice_Site_p.G43_splice|GGA1_uc003atf.3_Splice_Site	NM_013365	NP_001166159	Q9UJY5	GGA1_HUMAN	Homo sapiens golgi-associated, gamma adaptin ear containing, ARF binding protein 1 (GGA1), transcript variant 1, mRNA.	43	VHS.				intracellular protein transport|vesicle-mediated transport	Golgi apparatus part|clathrin adaptor complex|endosome membrane	protein binding	p.G43R(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	10	Melanoma(58;0.0574)					GGACTTTGAGGGGTAGGTGGC	0.592000													4	56					0	0	1	0	0
ENTPD8	377841	broad.mit.edu	37	9	140331457	140331457	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:140331457C>A	uc004cmw.3	-	4	603	c.419G>T	c.(418-420)aGg>aTg	p.R140M	ENTPD8_uc004cmx.3_Missense_Mutation_p.R140M|ENTPD8_uc004cmy.2_3'UTR	NM_001033113	NP_001028285	Q5MY95	ENTP8_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 8 (ENTPD8), transcript variant 1, mRNA.	140						integral to membrane|plasma membrane	ATP binding			biliary_tract(1)|lung(4)|prostate(1)|skin(1)	7	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)		AAAGATGTCCCTGGCCTGAGA	0.687000													4	70					0	0	1	0	0
RPIA	22934	broad.mit.edu	37	2	88991285	88991285	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:88991285G>T	uc002ste.3	+	0	110	c.69G>T	c.(67-69)ggG>ggT	p.G23G		NM_144563	NP_653164	P49247	RPIA_HUMAN	Homo sapiens ribose 5-phosphate isomerase A (RPIA), mRNA.	23					pentose-phosphate shunt, non-oxidative branch	cytosol	ribose-5-phosphate isomerase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18		Acute lymphoblastic leukemia(2;0.000456)|all_hematologic(2;0.00287)				ggagggccgggggcgcggcct	0.766000													3	12					0	0	1	0	0
GAA	2548	broad.mit.edu	37	17	78079689	78079689	+	Missense_Mutation	SNP	G	G	T	rs145866792	byFrequency	TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:78079689G>T	uc002jxp.3	+	2	1055	c.688G>T	c.(688-690)Gtg>Ttg	p.V230L	GAA_uc002jxo.3_Missense_Mutation_p.V230L|GAA_uc002jxq.3_Missense_Mutation_p.V230L	NM_000152	NP_001073272	P10253	LYAG_HUMAN	Homo sapiens glucosidase, alpha; acid (GAA), transcript variant 1, mRNA.	230					cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity	p.V230L(2)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	GGACGGCCGCGTGCTGTGAGT	0.662000													22	36					0	0	1	0	0
ATP6V1B2	526	broad.mit.edu	37	8	20072428	20072428	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr8:20072428G>T	uc003wzp.3	+	9	1241	c.1027G>T	c.(1027-1029)Ggg>Tgg	p.G343W		NM_001693	NP_001684	P21281	VATB2_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2 (ATP6V1B2), mRNA.	343					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	Golgi apparatus|cytosol|endomembrane system|melanosome|plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			endometrium(1)|kidney(2)|lung(5)|prostate(1)	9				Colorectal(74;0.0535)|COAD - Colon adenocarcinoma(73;0.211)		GCGAGTGGAAGGGAGAAACGG	0.438000													5	110					0	0	1	0	0
NCAN	1463	broad.mit.edu	37	19	19359559	19359559	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:19359559C>A	uc002nlz.3	+	13	3787	c.3688C>A	c.(3688-3690)Cgc>Agc	p.R1230S	NCAN_uc002nma.3_5'UTR	NM_004386	NP_004377	O14594	NCAN_HUMAN	Homo sapiens neurocan (NCAN), mRNA.	1230	Sushi.				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			CATCGGTGCCCGCAAGGCCAA	0.557000													3	71					0	0	1	0	0
ANKS1A	23294	broad.mit.edu	37	6	34985545	34985545	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:34985545C>A	uc003ojx.4	+	10	1861	c.1719C>A	c.(1717-1719)ccC>ccA	p.P573P	ANKS1A_uc011dst.2_Silent_p.P113P|ANKS1A_uc010jvp.2_Intron	NM_015245	NP_056060	Q92625	ANS1A_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1A (ANKS1A), mRNA.	573						cytoplasm	protein binding			cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						CAGGCCTGCCCACCACCAACA	0.647000													5	113					0	0	1	0	0
SLC16A4	9122	broad.mit.edu	37	1	110925493	110925493	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:110925493C>G	uc001dzo.2	-	2	433	c.183G>C	c.(181-183)tgG>tgC	p.W61C	SLC16A4_uc009wfs.2_Missense_Mutation_p.W61C|SLC16A4_uc001dzp.2_Missense_Mutation_p.W61C|SLC16A4_uc010ovy.2_Intron|SLC16A4_uc010ovz.2_Intron|SLC16A4_uc001dzq.2_Intron	NM_004696	NP_004687	O15374	MOT5_HUMAN	Homo sapiens solute carrier family 16, member 4 (monocarboxylic acid transporter 5) (SLC16A4), transcript variant 1, mRNA.	61						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity	p.W61C(2)		breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(3)|prostate(1)|stomach(2)	16		all_cancers(81;0.000476)|all_epithelial(167;0.000401)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0251)|all cancers(265;0.0766)|Epithelial(280;0.0807)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.14)	Pyruvic acid(DB00119)	TGGATCCAATCCAACCAATTT	0.408000													62	156					0	0	1	0	0
TFAP2A	7020	broad.mit.edu	37	6	10400801	10400801	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:10400801C>A	uc003myr.3	-	5	1157	c.905G>T	c.(904-906)aGg>aTg	p.R302M	TFAP2A_uc003myq.3_Missense_Mutation_p.R296M|TFAP2A_uc003mys.3_Non-coding_Transcript|TFAP2A_uc011dih.2_Intron|TFAP2A_uc003myt.3_Missense_Mutation_p.R298M	NM_003220	NP_003211	P05549	AP2A_HUMAN	Homo sapiens transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha) (TFAP2A), transcript variant 1, mRNA.	302	H-S-H (helix-span-helix), dimerization.				ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	Golgi apparatus|centrosome|nucleus	chromatin binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	13	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)				CCCAAAGTCCCTGGCTAGGTG	0.527000													5	140					0	0	1	0	0
KDM1A	23028	broad.mit.edu	37	1	23408760	23408760	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:23408760G>T	uc001bgi.2	+	17	2423	c.2274G>T	c.(2272-2274)cgG>cgT	p.R758R	KDM1A_uc001bgj.2_Silent_p.R782R	NM_015013	NP_055828	O60341	KDM1A_HUMAN	Homo sapiens lysine (K)-specific demethylase 1A (KDM1A), transcript variant 2, mRNA.	758	Demethylase activity.				blood coagulation|muscle cell development|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of apoptosis|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin	MyoD binding|androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H3-dimethyl-K4 specific)|ligand-dependent nuclear receptor transcription coactivator activity|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding			breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						CCTGGGCTCGGGGCTCTTATT	0.498000													5	100					0	0	1	0	0
BAD	572	broad.mit.edu	37	11	64037705	64037705	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:64037705C>A	uc001nzd.3	-	3	565	c.483G>T	c.(481-483)agG>agT	p.R161S	BAD_uc001nzc.3_Missense_Mutation_p.R161S	NM_032989	NP_116784	Q92934	BAD_HUMAN	Homo sapiens BCL2-associated agonist of cell death (BAD), transcript variant 2, mRNA.	161					ADP metabolic process|ATP metabolic process|activation of pro-apoptotic gene products|cellular response to hypoxia|cellular response to mechanical stimulus|cellular response to nicotine|glucose homeostasis|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|pore complex assembly|positive regulation of epithelial cell proliferation|positive regulation of glucokinase activity|positive regulation of insulin secretion|positive regulation of mitochondrial membrane potential|positive regulation of type B pancreatic cell development|regulation of mitochondrial membrane permeability|type B pancreatic cell proliferation	cytosol|mitochondrial outer membrane	caspase activator activity|phospholipid binding|protein kinase binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)	4						CGGAGCTTCCCCTGCCCAAGT	0.627000													5	74					0	0	1	0	0
ITSN1	6453	broad.mit.edu	37	21	35247673	35247673	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr21:35247673C>A	uc002yta.1	+	33	4457	c.4189C>A	c.(4189-4191)Cct>Act	p.P1397T	DONSON_uc002ysn.1_Intron|ITSN1_uc002ytb.1_Missense_Mutation_p.P1392T|ITSN1_uc002ytj.2_Intron|ITSN1_uc010gmm.1_Non-coding_Transcript|ITSN1_uc010gmn.1_Non-coding_Transcript|ITSN1_uc002ytk.1_Non-coding_Transcript	NM_003024	NP_003015	Q15811	ITSN1_HUMAN	Homo sapiens intersectin 1 (SH3 domain protein) (ITSN1), transcript variant 1, mRNA.	1397	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 vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	Rho guanyl-nucleotide exchange factor activity|calcium ion binding|proline-rich region binding|protein complex scaffold			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						GGAAAACACCCCTGAAAACCA	0.577000													5	106					0	0	1	0	0
YBX2	51087	broad.mit.edu	37	17	7192148	7192148	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:7192148G>T	uc002gfq.2	-	7	1111	c.1054C>A	c.(1054-1056)Cct>Act	p.P352T		NM_015982	NP_057066	Q9Y2T7	YBOX2_HUMAN	Homo sapiens Y box binding protein 2 (YBX2), mRNA.	352	Pro-rich.|Required for mRNA-binding.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|translational attenuation	cytoplasm|nucleus	DNA binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3)	12						CTGTTGACAGGGGCTGAGGTC	0.532000													4	78					0	0	1	0	0
TREX1	11277	broad.mit.edu	37	3	48508890	48508890	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:48508890C>A	uc003ctj.3	+	1	2258	c.1001C>A	c.(1000-1002)cCt>cAt	p.P334H	TREX1_uc010hjy.3_Missense_Mutation_p.P279H|TREX1_uc010hjz.3_Missense_Mutation_p.P279H|TREX1_uc003ctk.3_Missense_Mutation_p.P140H|TREX1_uc010hka.3_Missense_Mutation_p.P334H	NM_033629	NP_338599	Q9NSU2	TREX1_HUMAN	Homo sapiens three prime repair exonuclease 1 (TREX1), transcript variant 4, mRNA.	334					DNA recombination|DNA replication|cell death|mismatch repair	nuclear envelope	3'-5'-exodeoxyribonuclease activity|MutLalpha complex binding|MutSalpha complex binding|exodeoxyribonuclease III activity|metal ion binding|protein homodimerization activity|single-stranded DNA binding			breast(1)|kidney(1)|large_intestine(1)|lung(3)|skin(3)	9				BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GTGAAGGACCCTGGAGCCCTA	0.602000													5	112					0	0	1	0	0
BTN2A1	11120	broad.mit.edu	37	6	26465542	26465542	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:26465542G>T	uc003nib.2	+	4	1090	c.842G>T	c.(841-843)gGg>gTg	p.G281V	BTN2A1_uc021yni.1_Missense_Mutation_p.G281V|BTN2A1_uc003nic.2_Missense_Mutation_p.G281V|BTN2A1_uc011dko.2_Missense_Mutation_p.G220V	NM_007049	NP_001184162	Q7KYR7	BT2A1_HUMAN	Homo sapiens butyrophilin, subfamily 2, member A1 (BTN2A1), transcript variant 1, mRNA.	281					lipid metabolic process	integral to plasma membrane				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3)	27						ATTCTGTCAGGGGAAAAGGAG	0.403000													6	215					0	0	1	0	0
DDX11L10	100287029	broad.mit.edu	37	16	62996	62996	+	RNA	SNP	A	A	G			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr16:62996A>G	uc010bqm.2	+	2		c.558A>G								Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 like 10 (DDX11L10), non-coding RNA.																		TGTTGGCCTGAATCTGAGCCC	0.567000													3	3					0	0	1	0	0
LMX1A	4009	broad.mit.edu	37	1	165175156	165175156	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:165175156G>T	uc001gcz.2	-	7	1127	c.933C>A	c.(931-933)ccC>ccA	p.P311P	LMX1A_uc021pdz.1_Silent_p.P311P|LMX1A_uc021pdy.1_Silent_p.P62P|LMX1A_uc001gcw.2_Silent_p.P29P	NM_001174069	NP_796372	Q8TE12	LMX1A_HUMAN	Homo sapiens LIM homeobox transcription factor 1, alpha (LMX1A), transcript variant 4, mRNA.	311						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					CCTGTCGGAAGGGATCTGAGC	0.592000													5	154					0	0	1	0	0
LSR	51599	broad.mit.edu	37	19	35749931	35749931	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:35749931G>T	uc002nyl.3	+	2	905	c.682G>T	c.(682-684)Ggg>Tgg	p.G228W	LSR_uc010xsr.2_Intron|LSR_uc002nym.3_Missense_Mutation_p.G228W|LSR_uc002nyn.3_Missense_Mutation_p.G228W|LSR_uc002nyo.3_Missense_Mutation_p.G228W|LSR_uc002nyp.3_Missense_Mutation_p.G191W	NM_205834	NP_991403	Q86X29	LSR_HUMAN	Homo sapiens lipolysis stimulated lipoprotein receptor (LSR), transcript variant 2, mRNA.	228	Ig-like V-type.				embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GGACCTCCAGGGGAACAATGA	0.592000													5	113					0	0	1	0	0
LTBP3	4054	broad.mit.edu	37	11	65320672	65320672	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:65320672G>T	uc001oej.3	-	4	1295	c.1026C>A	c.(1024-1026)ccC>ccA	p.P342P	LTBP3_uc010roi.2_Silent_p.P225P|LTBP3_uc001oei.3_Silent_p.P342P|LTBP3_uc010roj.2_Intron|LTBP3_uc010rok.1_Silent_p.P253P|U7_uc021qll.1_5'Flank	NM_001130144	NP_001123616	Q9NS15	LTBP3_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 3 (LTBP3), transcript variant 1, mRNA.	342						extracellular region	calcium ion binding|growth factor binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						TGTAGCCCTGGGGACAGTCAG	0.627000													5	132					0	0	1	0	0
TNFRSF4	7293	broad.mit.edu	37	1	1148396	1148396	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:1148396G>T	uc001adf.3	-	1	956	c.358C>A	c.(358-360)Ctg>Atg	p.L120M	TNFRSF4_uc001ade.3_Missense_Mutation_p.L116M			P43489	TNR4_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 4 (TNFRSF4), mRNA.	116					T cell proliferation|immune response|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of immunoglobulin secretion	integral to plasma membrane	tumor necrosis factor receptor activity			large_intestine(1)|lung(2)|urinary_tract(1)	4	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TAGCTGTCCAGGGGCTGGGTG	0.701000													3	16					0	0	1	0	0
UBXN11	91544	broad.mit.edu	37	1	26609170	26609170	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:26609170C>A	uc001blw.3	-	14	1535	c.1262G>T	c.(1261-1263)gGg>gTg	p.G421V	UBXN11_uc001bly.3_Missense_Mutation_p.G301V|UBXN11_uc001blz.1_Missense_Mutation_p.G388V|UBXN11_uc001blx.3_Missense_Mutation_p.G179V|UBXN11_uc001bma.3_Missense_Mutation_p.G388V	NM_183008	NP_892120	Q5T124	UBX11_HUMAN	Homo sapiens UBX domain protein 11 (UBXN11), transcript variant 2, mRNA.	421	UBX.					cytoplasm|cytoskeleton				endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						TCGCACGTCCCCAATGGTGTT	0.642000													5	129					0	0	1	0	0
GPR137	56834	broad.mit.edu	37	11	64055537	64055537	+	Splice_Site	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:64055537G>T	uc010rni.2	+	6	836	c.808_splice	c.e6-1	p.G270_splice	GPR137_uc010rnj.2_Splice_Site_p.G212_splice|GPR137_uc001nze.2_Splice_Site_p.G212_splice|GPR137_uc001nzf.3_Intron|GPR137_uc001nzi.3_Splice_Site_p.G212_splice|GPR137_uc021qkt.1_Splice_Site_p.G212_splice	NM_001170726	NP_001164197	Q96N19	G137A_HUMAN	Homo sapiens G protein-coupled receptor 137 (GPR137), transcript variant 4, mRNA.	212						integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						CCTGTGCCAGGGGACCAGTGT	0.642000													5	112					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238274414	238274414	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:238274414G>T	uc002vwl.2	-	11	6050	c.5765C>A	c.(5764-5766)cCc>cAc	p.P1922H	COL6A3_uc002vwo.2_Missense_Mutation_p.P1716H|COL6A3_uc010znj.1_Missense_Mutation_p.P1315H	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	1922	Nonhelical region.|VWFA 10.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GAGGACGTAGGGGTGCTGGCT	0.612000													6	126					0	0	1	0	0
CDH2	1000	broad.mit.edu	37	18	25565614	25565614	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr18:25565614G>T	uc002kwg.2	-	11	2312	c.1853C>A	c.(1852-1854)cCc>cAc	p.P618H	CDH2_uc010xbn.1_Missense_Mutation_p.P587H	NM_001792	NP_001783	P19022	CADH2_HUMAN	Homo sapiens cadherin 2, type 1, N-cadherin (neuronal) (CDH2), mRNA.	618	Cadherin 5.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						AATTGAATTGGGGTCTGGAGT	0.388000													6	208					0	0	1	0	0
SNAPC1	6617	broad.mit.edu	37	14	62245576	62245576	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr14:62245576G>T	uc001xft.3	+	6	877	c.773G>T	c.(772-774)aGg>aTg	p.R258M		NM_003082	NP_003073	Q16533	SNPC1_HUMAN	Homo sapiens small nuclear RNA activating complex, polypeptide 1, 43kDa (SNAPC1), mRNA.	258	SNAPC4-binding.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.0639)|BRCA - Breast invasive adenocarcinoma(234;0.186)		AGATGTGAAAGGGCAGAATCA	0.289000													5	151					0	0	1	0	0
LCE1A	353131	broad.mit.edu	37	1	152800255	152800255	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:152800255G>A	uc010pdw.2	+	0	307	c.307G>A	c.(307-309)Ggc>Agc	p.G103S		NM_178348	NP_848125	Q5T7P2	LCE1A_HUMAN	Homo sapiens late cornified envelope 1A (LCE1A), mRNA.	103	Cys-rich.				keratinization			p.G103S(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	8	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGGGGACAGCGGCCAGCACTC	0.622000													4	14					0	0	1	0	0
MLIP	90523	broad.mit.edu	37	6	53989461	53989461	+	Missense_Mutation	SNP	G	G	T	rs143336016		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:53989461G>T	uc011dxa.2	+	2	476	c.443G>T	c.(442-444)gGg>gTg	p.G148V	MLIP_uc003pcf.2_Missense_Mutation_p.G137V|MLIP_uc003pcg.4_Missense_Mutation_p.G137V|MLIP_uc003pch.4_Missense_Mutation_p.G75V|MLIP_uc011dwz.1_Missense_Mutation_p.G96V	NM_138569	NP_612636	Q5VWP3	MLIP_HUMAN	Homo sapiens muscular LMNA-interacting protein (MLIP), mRNA.	137						PML body|nuclear envelope	protein binding	p.G137V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						GACTCCGAAGGGGAAGATGAG	0.502000													9	197					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62292624	62292624	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:62292624G>T	uc001ntl.3	-	4	9565	c.9265C>A	c.(9265-9267)Ccc>Acc	p.P3089T	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	3089					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GAGATCTTGGGGGCTTTGATG	0.458000													12	543					0	0	1	0	0
KIAA1804	84451	broad.mit.edu	37	1	233489601	233489601	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:233489601G>T	uc001hvt.4	+	2	1296	c.1035G>T	c.(1033-1035)cgG>cgT	p.R345R	KIAA1804_uc001hvs.1_Silent_p.R345R	NM_032435	NP_115811	Q5TCX8	M3KL4_HUMAN	Homo sapiens mixed lineage kinase 4 (KIAA1804), mRNA.	345	Protein kinase.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|large_intestine(18)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(4)	52		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)				TCCCCTATCGGGGCATTGATG	0.512000													7	164					0	0	1	0	0
LCTL	197021	broad.mit.edu	37	15	66853375	66853375	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr15:66853375C>A	uc002aqc.3	-	5	806	c.674G>T	c.(673-675)gGc>gTc	p.G225V	LCTL_uc002aqd.4_Missense_Mutation_p.G52V|LCTL_uc010bhw.3_Intron	NM_207338	NP_997221	Q6UWM7	LCTL_HUMAN	Homo sapiens lactase-like (LCTL), mRNA.	225					carbohydrate metabolic process	endoplasmic reticulum membrane|integral to membrane	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	p.G225V(6)		NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CTTGTACAGGCCGGTGCCGCG	0.602000													9	99					0	0	1	0	0
ZNF566	84924	broad.mit.edu	37	19	36963864	36963864	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:36963864C>A	uc010xtf.2	-	3	319	c.184G>T	c.(184-186)Ggg>Tgg	p.G62W	ZNF566_uc002oea.4_Missense_Mutation_p.G61W|ZNF566_uc010xte.2_Missense_Mutation_p.G61W|ZNF566_uc002oeb.4_Missense_Mutation_p.G61W|ZNF566_uc002oec.4_Intron|ZNF566_uc010xtg.2_Intron	NM_001145343	NP_001138815	Q969W8	ZN566_HUMAN	Homo sapiens zinc finger protein 566 (ZNF566), transcript variant 4, mRNA.	61	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24	Esophageal squamous(110;0.162)					GGCTCCTTCCCTTGCTCCAAG	0.448000													11	622					0	0	1	0	0
LRCH1	23143	broad.mit.edu	37	13	47269054	47269054	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr13:47269054G>T	uc001vbk.3	+	8	1383	c.1147G>T	c.(1147-1149)Gag>Tag	p.E383*	LRCH1_uc010acp.2_Nonsense_Mutation_p.E383*|LRCH1_uc001vbj.3_Nonsense_Mutation_p.E383*|LRCH1_uc001vbl.4_Nonsense_Mutation_p.E383*	NM_001164211	NP_001157683	Q9Y2L9	LRCH1_HUMAN	Homo sapiens leucine-rich repeats and calponin homology (CH) domain containing 1 (LRCH1), transcript variant 1, mRNA.	383								p.E383*(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		ATTTCAACCGGAGCCTTCCCT	0.408000													84	82					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237802315	237802315	+	Splice_Site	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:237802315G>T	uc001hyl.1	+	46	7049	c.6929_splice	c.e46-1	p.G2310_splice		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	2310	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TCTACTTTAGGGGAGAGTGTG	0.383000													4	51					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27058085	27058085	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:27058085C>A	uc001bmv.1	+	2	2166	c.1793C>A	c.(1792-1794)cCt>cAt	p.P598H	ARID1A_uc001bmt.1_Missense_Mutation_p.P598H|ARID1A_uc001bmu.1_Missense_Mutation_p.P598H|ARID1A_uc001bmw.1_Missense_Mutation_p.P215H	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	598					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CAGCGCTTCCCTCCACCGCAG	0.587000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								6	154					0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49692404	49692404	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:49692404C>A	uc003cxe.4	+	4	5529	c.5415C>A	c.(5413-5415)ccC>ccA	p.P1805P		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	1805					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		ATAACCTACCCAACCAAGTAG	0.592000													6	198					0	0	1	0	0
SLITRK5	26050	broad.mit.edu	37	13	88328403	88328403	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr13:88328403T>C	uc001vln.3	+	1	979	c.760T>C	c.(760-762)Tcc>Ccc	p.S254P	SLITRK5_uc010tic.1_Intron|SLITRK5_uc021rlc.1_Missense_Mutation_p.S254P	NM_015567	NP_056382	O94991	SLIK5_HUMAN	Homo sapiens SLIT and NTRK-like family, member 5 (SLITRK5), mRNA.	254	LRRCT 1.					integral to membrane		p.S254P(2)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GGACAGCATCTCCTATTCAGC	0.507000													75	242					0	0	1	0	0
SRPRB	58477	broad.mit.edu	37	3	133525537	133525537	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:133525537T>G	uc003epx.2	+	2	524	c.239T>G	c.(238-240)cTc>cGc	p.L80R		NM_021203	NP_067026	Q9Y5M8	SRPRB_HUMAN	Homo sapiens signal recognition particle receptor, B subunit (SRPRB), mRNA.	80						endoplasmic reticulum membrane|integral to membrane	GTP binding|protein binding|receptor activity	p.L80R(2)		breast(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(2)	12						AAAACGTTGCTCTTTGTCAGG	0.403000													21	165					0	0	1	0	0
LAP3	51056	broad.mit.edu	37	4	17590565	17590565	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr4:17590565C>A	uc003gph.1	+	6	990	c.828C>A	c.(826-828)ccC>ccA	p.P276P		NM_015907	NP_056991	P28838	AMPL_HUMAN	Homo sapiens leucine aminopeptidase 3 (LAP3), mRNA.	276					proteolysis	nucleus	aminopeptidase activity|magnesium ion binding|manganese ion binding|metalloexopeptidase activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|urinary_tract(1)	20						ACGAACCACCCCTGGTGTTTG	0.443000													8	254					0	0	1	0	0
IL1RAPL1	11141	broad.mit.edu	37	X	29972728	29972728	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chrX:29972728C>A	uc004dby.2	+	9	1799	c.1291C>A	c.(1291-1293)Ctt>Att	p.L431I		NM_014271	NP_055086	Q9NZN1	IRPL1_HUMAN	Homo sapiens interleukin 1 receptor accessory protein-like 1 (IL1RAPL1), mRNA.	431	TIR.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity	p.L431I(6)|p.A430A(1)		biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						ACGTTTTGCCCTTGAAATCCT	0.348000													5	115					0	0	1	0	0
SLC32A1	140679	broad.mit.edu	37	20	37356567	37356567	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr20:37356567G>T	uc002xjc.3	+	1	1126	c.863G>T	c.(862-864)cGg>cTg	p.R288L		NM_080552	NP_542119	Q9H598	VIAAT_HUMAN	Homo sapiens solute carrier family 32 (GABA vesicular transporter), member 1 (SLC32A1), mRNA.	288					neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	TGTCTATCGCGGGCGCGCGAC	0.537000													4	58					0	0	1	0	0
KCNH4	23415	broad.mit.edu	37	17	40328132	40328132	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:40328132G>T	uc002hzb.2	-	4	1102	c.769C>A	c.(769-771)Ccc>Acc	p.P257T		NM_012285	NP_036417	Q9UQ05	KCNH4_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 4 (KCNH4), mRNA.	257					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GAAGTGATGGGGGTGTCATCG	0.592000													7	197					0	0	1	0	0
EPS8L1	54869	broad.mit.edu	37	19	55589469	55589469	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:55589469C>A	uc002qis.4	+	2	135	c.31C>A	c.(31-33)Cca>Aca	p.P11T	EPS8L1_uc010ess.1_Intron|EPS8L1_uc010est.1_Missense_Mutation_p.P11T|EPS8L1_uc010yfr.2_Intron|EPS8L1_uc010esu.1_Non-coding_Transcript|EPS8L1_uc002qiu.3_5'Flank	NM_133180	NP_573441	Q8TE68	ES8L1_HUMAN	Homo sapiens EPS8-like 1 (EPS8L1), transcript variant 1, mRNA.	11						cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		AGAAGCTGCCCCAAAGCCAAG	0.572000													6	88					0	0	1	0	0
BC107568	0	broad.mit.edu	37	GL000195.1	138035	138035	+	RNA	SNP	C	C	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chrGL000195.1:138035C>T	uc003won.1	+	0		c.69C>T								Homo sapiens cDNA clone IMAGE:3683736.																		CCTCCTGCACCTTGGGAGCCC	0.602000													4	2					0	0	1	0	0
LCE1C	353133	broad.mit.edu	37	1	152777624	152777624	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:152777624C>T	uc021ozi.1	-	0	331	c.331G>A	c.(331-333)Ggc>Agc	p.G111S	LCE1C_uc001fap.1_Missense_Mutation_p.G111S	NM_178351	NP_848128	Q5T751	LCE1C_HUMAN	Homo sapiens late cornified envelope 1C (LCE1C), mRNA.	111	Gly-rich.				keratinization			p.G111S(2)		NS(1)|lung(4)|prostate(1)|skin(2)|urinary_tract(1)	9	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GAGTGCTGGCCACTCCCCCCG	0.657000													14	39					0	0	1	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84373226	84373226	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr15:84373226G>T	uc002bjz.4	+	2	379	c.155G>T	c.(154-156)gGg>gTg	p.G52V	ADAMTSL3_uc002bjy.1_Missense_Mutation_p.G52V|ADAMTSL3_uc010bmt.1_Missense_Mutation_p.G52V	NM_207517	NP_997400	P82987	ATL3_HUMAN	Homo sapiens ADAMTS-like 3 (ADAMTSL3), mRNA.	52						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			GACACAACAGGGGAGCAGTTC	0.468000													10	425					0	0	1	0	0
VAV3	10451	broad.mit.edu	37	1	108185310	108185310	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:108185310G>T	uc001dvk.1	-	19	1899	c.1845C>A	c.(1843-1845)ccC>ccA	p.P615P	VAV3_uc010ouu.1_Silent_p.P19P|VAV3_uc001dvj.1_Silent_p.P55P|VAV3_uc010ouv.1_Silent_p.P19P|VAV3_uc010ouw.1_Silent_p.P615P	NM_006113	NP_006104	Q9UKW4	VAV3_HUMAN	Homo sapiens vav 3 guanine nucleotide exchange factor (VAV3), transcript variant 1, mRNA.	615	SH3 1.				B cell receptor signaling pathway|angiogenesis|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|SH3/SH2 adaptor activity|metal ion binding			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		GCTGTAAAGGGGGTCCTTCAT	0.478000													6	203					0	0	1	0	0
NCAPG2	54892	broad.mit.edu	37	7	158451099	158451099	+	Splice_Site	SNP	T	T	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr7:158451099T>A	uc011kwe.1	-	17	2135	c.1990_splice	c.e17-1	p.D664_splice	NCAPG2_uc010lqu.1_Splice_Site_p.D456_splice|NCAPG2_uc003wnx.1_Splice_Site_p.D664_splice|NCAPG2_uc003wnv.1_Splice_Site_p.D664_splice|NCAPG2_uc003wnw.1_Splice_Site|NCAPG2_uc011kwc.1_Splice_Site_p.D165_splice|NCAPG2_uc011kwd.1_Splice_Site_p.D107_splice	NM_017760	NP_060230	Q86XI2	CNDG2_HUMAN	Homo sapiens non-SMC condensin II complex, subunit G2 (NCAPG2), mRNA.	664					cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding	p.D664V(1)		NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		GCAGCGATCATCCTAAAAGCG	0.383000													14	31					0	0	1	0	0
FAM126B	285172	broad.mit.edu	37	2	201846109	201846109	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:201846109G>A	uc002uws.4	-	11	1665	c.1477C>T	c.(1477-1479)Cag>Tag	p.Q493*	FAM126B_uc002uwu.3_Nonsense_Mutation_p.Q467*|FAM126B_uc002uwv.3_Nonsense_Mutation_p.Q493*	NM_173822	NP_776183	Q8IXS8	F126B_HUMAN	Homo sapiens family with sequence similarity 126, member B (FAM126B), mRNA.	493						intracellular		p.Q493*(2)		endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						CGGTCTTCCTGCAGACTGACA	0.512000													33	60					0	0	1	0	0
PPM1L	151742	broad.mit.edu	37	3	160783260	160783260	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:160783260G>T	uc003fdr.3	+	2	745	c.644G>T	c.(643-645)gGg>gTg	p.G215V	PPM1L_uc003fds.3_Missense_Mutation_p.G36V|PPM1L_uc003fdt.3_Missense_Mutation_p.G88V|PPM1L_uc010hwf.3_Non-coding_Transcript	NM_139245	NP_640338	Q5SGD2	PPM1L_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1L (PPM1L), mRNA.	215	PP2C-like.				protein dephosphorylation|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			GACTCGCGCGGGGTCCTGTGT	0.483000													6	161					0	0	1	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41061824	41061824	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:41061824G>T	uc003jmj.4	-	5	953	c.463C>A	c.(463-465)Ctt>Att	p.L155I	HEATR7B2_uc021xxt.1_Missense_Mutation_p.L155I	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	155							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						AATTTCTCAAGGGCTGCATTT	0.398000													4	75					0	0	1	0	0
TM6SF1	53346	broad.mit.edu	37	15	83781633	83781633	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr15:83781633C>A	uc002bjp.3	+	1	286	c.177C>A	c.(175-177)ccC>ccA	p.P59P	TM6SF1_uc010bmq.3_Silent_p.P59P|TM6SF1_uc002bjq.3_Silent_p.P59P|TM6SF1_uc010bmr.3_Non-coding_Transcript	NM_023003	NP_075379	Q9BZW5	TM6S1_HUMAN	Homo sapiens transmembrane 6 superfamily member 1 (TM6SF1), transcript variant 1, mRNA.	59			P -> S (in dbSNP:rs1989).			integral to membrane				endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						GAAAACCACCCCGGGACCCAC	0.483000													7	174					0	0	1	0	0
DDHD2	23259	broad.mit.edu	37	8	38109666	38109666	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr8:38109666C>A	uc003xlc.3	+	12	1678	c.1478C>A	c.(1477-1479)cCc>cAc	p.P493H	DDHD2_uc003xlb.3_Missense_Mutation_p.P493H|DDHD2_uc003xld.3_Missense_Mutation_p.P112H	NM_001164232	NP_056029	O94830	DDHD2_HUMAN	Homo sapiens DDHD domain containing 2 (DDHD2), transcript variant 2, mRNA.	493					lipid catabolic process	centrosome	hydrolase activity|metal ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)			GTGAAATACCCCCGGCTCATC	0.383000													8	320					0	0	1	0	0
PRDM8	56978	broad.mit.edu	37	4	81123291	81123291	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr4:81123291C>A	uc010ijo.3	+	7	1514	c.675C>A	c.(673-675)ccC>ccA	p.P225P	PRDM8_uc003hmb.4_Silent_p.P225P|PRDM8_uc003hmc.4_Silent_p.P225P	NM_020226	NP_064611	Q9NQV8	PRDM8_HUMAN	Homo sapiens PR domain containing 8 (PRDM8), transcript variant 1, mRNA.	225	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						GCCCGGGTCCCAAGTTTTGCA	0.697000											OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	28					0	0	1	0	0
TEKT2	27285	broad.mit.edu	37	1	36552430	36552430	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:36552430C>A	uc001bzr.3	+	4	741	c.614C>A	c.(613-615)cCc>cAc	p.P205H	TEKT2_uc001bzs.3_Missense_Mutation_p.P111H|ADPRHL2_uc001bzt.3_5'Flank	NM_014466	NP_055281	Q9UIF3	TEKT2_HUMAN	Homo sapiens tektin 2 (testicular) (TEKT2), mRNA.	205					cell projection organization|microtubule cytoskeleton organization	actin cytoskeleton|cilium axoneme|flagellar axoneme|focal adhesion|microtubule|nucleolus				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)|skin(2)	13		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AAGGTTGACCCCACACGTGTA	0.552000													5	113					0	0	1	0	0
ARHGAP30	257106	broad.mit.edu	37	1	161023119	161023119	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:161023119C>A	uc001fxl.3	-	5	939	c.593G>T	c.(592-594)cGg>cTg	p.R198L	ARHGAP30_uc001fxk.3_Missense_Mutation_p.R198L|ARHGAP30_uc001fxm.3_Missense_Mutation_p.R44L|ARHGAP30_uc009wtx.3_5'UTR|ARHGAP30_uc001fxn.1_Missense_Mutation_p.R44L	NM_001025598	NP_001020769	Q7Z6I6	RHG30_HUMAN	Homo sapiens Rho GTPase activating protein 30 (ARHGAP30), transcript variant 1, mRNA.	198	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.R198L(3)|p.R198W(1)		breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			GGATTGTACCCGCACCTCCAT	0.562000													5	125					0	0	1	0	0
SKA1	220134	broad.mit.edu	37	18	47906549	47906549	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr18:47906549G>A	uc002let.3	+	2	326	c.142G>A	c.(142-144)Gta>Ata	p.V48I	SKA1_uc002leu.3_Missense_Mutation_p.V48I|SKA1_uc010xdl.2_Missense_Mutation_p.V48I	NM_145060	NP_659497	Q96BD8	SKA1_HUMAN	Homo sapiens spindle and kinetochore associated complex subunit 1 (SKA1), transcript variant 2, mRNA.	48					cell division|chromosome segregation|mitotic anaphase|mitotic prometaphase|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytosol|spindle microtubule	microtubule binding	p.V48I(2)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(1)|prostate(1)	13						TGAGATCATTGTAATAAATGA	0.289000													79	151					0	0	1	0	0
SUFU	51684	broad.mit.edu	37	10	104264005	104264005	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:104264005G>T	uc001kvy.2	+	0	287	c.96G>T	c.(94-96)ccG>ccT	p.P32P	SUFU_uc001kvw.2_Silent_p.P32P|SUFU_uc001kvx.3_Silent_p.P32P|ACTR1A_uc001kvv.3_5'Flank|ACTR1A_uc010qqn.2_5'Flank|ACTR1A_uc010qqo.2_5'Flank	NM_016169	NP_057253	Q9UMX1	SUFU_HUMAN	Homo sapiens suppressor of fused homolog (Drosophila) (SUFU), transcript variant 1, mRNA.	32					negative regulation of transcription from RNA polymerase II promoter|proteolysis|skeletal system development	cytoplasm|nucleus	identical protein binding|protein binding|signal transducer activity|transcription corepressor activity|transcription factor binding			breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	24		Colorectal(252;0.207)		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)		TCTTTCCCCCGGGACTGCACG	0.721000			"""D, F, S"""		medulloblastoma	medulloblastoma			Medulloblastoma, associated with Germline SUFU Mutation				3	40					0	0	1	0	0
SLC25A42	284439	broad.mit.edu	37	19	19218792	19218792	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:19218792G>T	uc002nlf.2	+	6	743	c.587G>T	c.(586-588)gGg>gTg	p.G196V		NM_178526	NP_848621	Q86VD7	S2542_HUMAN	Homo sapiens solute carrier family 25, member 42 (SLC25A42), mRNA.	196					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			cervix(1)|large_intestine(2)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497)			ACCGTGCTGGGGGTCATTCCC	0.547000													5	155					0	0	1	0	0
KLHL5	51088	broad.mit.edu	37	4	39109314	39109314	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr4:39109314C>A	uc003gtr.2	+	7	2072	c.1789C>A	c.(1789-1791)Cct>Act	p.P597T	KLHL5_uc003gtp.3_Missense_Mutation_p.P551T|KLHL5_uc003gtq.3_Missense_Mutation_p.P410T|KLHL5_uc003gts.3_Missense_Mutation_p.P597T|KLHL5_uc003gtt.3_Missense_Mutation_p.P536T	NM_015990	NP_057074	Q96PQ7	KLHL5_HUMAN	Homo sapiens kelch-like 5 (Drosophila) (KLHL5), transcript variant 1, mRNA.	597						cytoplasm|cytoskeleton	actin binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						TATGTCTACCCCTAGGAGTAC	0.418000													5	131					0	0	1	0	0
RHPN2	85415	broad.mit.edu	37	19	33535271	33535271	+	Splice_Site	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:33535271C>A	uc002nuf.3	-	2	136	c.70_splice	c.e2-1	p.G24_splice	RHPN2_uc010xro.2_Splice_Site	NM_033103	NP_149094	Q8IUC4	RHPN2_HUMAN	Homo sapiens rhophilin, Rho GTPase binding protein 2 (RHPN2), mRNA.	24					signal transduction	perinuclear region of cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					GATTACAGCCCTGAGGAAAAA	0.428000													6	124					0	0	1	0	0
SEC16A	9919	broad.mit.edu	37	9	139357510	139357510	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:139357510G>T	uc004chx.3	-	11	5031	c.4722C>A	c.(4720-4722)ccC>ccA	p.P1574P	SEC16A_uc004chv.4_Silent_p.P964P|SEC16A_uc004chw.3_Silent_p.P1574P|SEC16A_uc010nbn.3_Silent_p.P1574P	NM_014866	NP_055681	O15027	SC16A_HUMAN	Homo sapiens SEC16 homolog A (S. cerevisiae) (SEC16A), mRNA.	1396					protein transport|vesicle-mediated transport	Golgi membrane|endoplasmic reticulum membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		TTGCTTCATTGGGCGACTTCC	0.552000													5	121					0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140779733	140779733	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:140779733C>A	uc003lkf.2	+	0	2039	c.2039C>A	c.(2038-2040)cCc>cAc	p.P680H	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc011daw.2_Missense_Mutation_p.P680H|PCDHGC5_uc011dax.2_5'Flank|PCDHGC5_uc003lkh.2_5'Flank	NM_018925	NP_061748	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 5 (PCDHGB5), transcript variant 1, mRNA.	686					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D679G(1)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCTCTGACCCCCAGGCTGAG	0.627000													9	313					0	0	1	0	0
NAV2	89797	broad.mit.edu	37	11	20104694	20104694	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:20104694C>A	uc010rdm.2	+	27	5996	c.5635C>A	c.(5635-5637)Cca>Aca	p.P1879T	NAV2_uc001mpp.3_Missense_Mutation_p.P1759T|NAV2_uc001mpr.4_Missense_Mutation_p.P1823T|NAV2_uc021qew.1_Missense_Mutation_p.P1826T|NAV2_uc009yhx.3_Missense_Mutation_p.P887T|NAV2_uc009yhz.3_Missense_Mutation_p.P468T|NAV2_uc001mpu.3_Missense_Mutation_p.P261T	NM_001244963	NP_001231892	Q8IVL1	NAV2_HUMAN	Homo sapiens neuron navigator 2 (NAV2), transcript variant 5, mRNA.	1882						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						AGGTTCCACCCCACTGCTGAG	0.488000													7	171					0	0	1	0	0
PAPLN	89932	broad.mit.edu	37	14	73730438	73730438	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr14:73730438C>A	uc010ttx.2	+	18	2972	c.2809C>A	c.(2809-2811)Ccg>Acg	p.P937T	PAPLN_uc001xnw.4_Missense_Mutation_p.P910T|PAPLN_uc010arl.3_Non-coding_Transcript|PAPLN_uc010ttw.2_Non-coding_Transcript|PAPLN_uc010tty.2_Missense_Mutation_p.P921T|PAPLN_uc010arm.3_Missense_Mutation_p.P136T|PAPLN_uc010arn.3_Missense_Mutation_p.P137T	NM_173462	NP_775733	O95428	PPN_HUMAN	Homo sapiens papilin, proteoglycan-like sulfated glycoprotein (PAPLN), mRNA.	937	Ig-like C2-type 1.					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		CGACACTGCCCCGGAATCCCA	0.642000													4	74					0	0	1	0	0
AAAS	8086	broad.mit.edu	37	12	53709129	53709129	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:53709129G>T	uc001scr.4	-	3	552	c.389C>A	c.(388-390)cCc>cAc	p.P130H	AAAS_uc001scs.4_Missense_Mutation_p.P130H	NM_015665	NP_056480	Q9NRG9	AAAS_HUMAN	Homo sapiens achalasia, adrenocortical insufficiency, alacrimia (AAAS), transcript variant 1, mRNA.	130					carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction	nuclear pore				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						AGACAGATGGGGGAACAGGGA	0.582000													4	50					0	0	1	0	0
WDFY3	23001	broad.mit.edu	37	4	85664946	85664946	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr4:85664946G>T	uc003hpd.3	-	36	6388	c.5980C>A	c.(5980-5982)Cct>Act	p.P1994T		NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA.	1994						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GACCTTTCAGGGGAAGCCTAA	0.318000													6	118					0	0	1	0	0
HIPK4	147746	broad.mit.edu	37	19	40886491	40886491	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:40886491C>A	uc002onp.3	-	2	1692	c.1407G>T	c.(1405-1407)tcG>tcT	p.S469S		NM_144685	NP_653286	Q8NE63	HIPK4_HUMAN	Homo sapiens homeodomain interacting protein kinase 4 (HIPK4), mRNA.	469						cytoplasm	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			GCTCAGGGCCCGAGTCGGGCA	0.657000													6	146					0	0	1	0	0
CUEDC2	79004	broad.mit.edu	37	10	104184317	104184317	+	Splice_Site	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:104184317C>A	uc001kvn.2	-	4	370	c.219_splice	c.e4-1	p.R73_splice	CUEDC2_uc001kvm.2_5'Flank	NM_024040	NP_076945	Q9H467	CUED2_HUMAN	Homo sapiens CUE domain containing 2 (CUEDC2), mRNA.	73						cytoplasm|nucleus	protein binding			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(1)|stomach(1)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.122)		Epithelial(162;9.17e-09)|all cancers(201;2.16e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CTATTGTGCCCCTGAAAAGAT	0.572000													9	234					0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	125072891	125072891	+	Missense_Mutation	SNP	G	G	A	rs138376786	byFrequency	TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr8:125072891G>A	uc003yqw.3	+	23	3294	c.3088G>A	c.(3088-3090)Gtg>Atg	p.V1030M	AK057332_uc003yqy.1_Non-coding_Transcript	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	1030						integral to membrane		p.V1030M(4)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GAAGTCCTGCGTGATCCAGAG	0.547000													8	137					0	0	1	0	0
TBCB	1155	broad.mit.edu	37	19	36616667	36616667	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:36616667G>T	uc002odg.1	+	5	1293	c.718G>T	c.(718-720)Ggg>Tgg	p.G240W		NM_001281	NP_001272	Q99426	TBCB_HUMAN	Homo sapiens tubulin folding cofactor B (TBCB), mRNA.	240					'de novo' posttranslational protein folding|cell differentiation|nervous system development	cytoplasm|microtubule	protein binding			large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	5	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GGAGGACTACGGGTTGGACGA	0.572000													6	227					0	0	1	0	0
SLX4	84464	broad.mit.edu	37	16	3658480	3658480	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr16:3658480C>A	uc002cvp.2	-	1	1113	c.486G>T	c.(484-486)acG>acT	p.T162T	SLX4_uc002cvq.1_Silent_p.T162T	NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	Homo sapiens SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae) (SLX4), mRNA.	162	Interaction with C20orf94, ERCC4 and MSH2.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding	p.T162M(1)		breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						GCTGGTTACCCGTCTGGGTGT	0.532000								Direct reversal of damage					6	196					0	0	1	0	0
PAFAH2	5051	broad.mit.edu	37	1	26308958	26308958	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:26308958C>A	uc001bld.4	-	6	743	c.563G>T	c.(562-564)cGg>cTg	p.R188L	PAFAH2_uc001ble.4_Missense_Mutation_p.R188L	NM_000437	NP_000428	Q99487	PAFA2_HUMAN	Homo sapiens platelet-activating factor acetylhydrolase 2, 40kDa (PAFAH2), mRNA.	188					lipid catabolic process	cytoplasm	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding			NS(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1)	9		Colorectal(325;3.47e-05)|Lung NSC(340;6.23e-05)|all_lung(284;9.48e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-25)|Colorectal(126;3.57e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00155)|GBM - Glioblastoma multiforme(114;0.00717)|READ - Rectum adenocarcinoma(331;0.0649)		CTCGCTTACCCGCTGATGCAC	0.532000													4	68					0	0	1	0	0
SERPINA10	51156	broad.mit.edu	37	14	94756493	94756493	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr14:94756493C>A	uc001yct.3	-	1	904	c.438G>T	c.(436-438)aaG>aaT	p.K146N	SERPINA10_uc001ycu.4_Missense_Mutation_p.K146N	NM_016186	NP_057270	Q9UK55	ZPI_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10 (SERPINA10), transcript variant 1, mRNA.	146					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		CTCTGAGTCCCTTAAAGAGGG	0.572000													6	185					0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77365581	77365581	+	Splice_Site	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:77365581G>T	uc004ajl.1	-	30	5295	c.5057_splice	c.e30+1	p.L1686_splice	TRPM6_uc004ajk.1_Splice_Site_p.L1681_splice|TRPM6_uc022bib.1_Splice_Site_p.L1681_splice|TRPM6_uc010mpb.1_Splice_Site|TRPM6_uc010mpc.1_Splice_Site_p.L637_splice|TRPM6_uc010mpd.1_Splice_Site_p.L519_splice|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajj.1_Splice_Site_p.L642_splice	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	1686					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	p.L1686L(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						AATACTCACAGGGAGTTCCTA	0.393000													5	139					0	0	1	0	0
ZNF629	23361	broad.mit.edu	37	16	30793264	30793264	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr16:30793264G>T	uc002dzs.1	-	2	2593	c.2385C>A	c.(2383-2385)ccC>ccA	p.P795P		NM_001080417	NP_001073886	Q9UEG4	ZN629_HUMAN	Homo sapiens zinc finger protein 629 (ZNF629), mRNA.	795					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			CGGGATTGGGGGGTTTTTCCT	0.662000													9	296					0	0	1	0	0
COL4A2	1284	broad.mit.edu	37	13	111114660	111114660	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr13:111114660G>T	uc001vqx.3	+	23	1994	c.1705G>T	c.(1705-1707)Ggg>Tgg	p.G569W		NM_001846	NP_001837	P08572	CO4A2_HUMAN	Homo sapiens collagen, type IV, alpha 2 (COL4A2), mRNA.	569	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			AGGTGTGCCCGGGATGAAAGG	0.667000													5	113					0	0	1	0	0
CRNN	49860	broad.mit.edu	37	1	152382359	152382359	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:152382359G>A	uc001ezx.2	-	2	1273	c.1199C>T	c.(1198-1200)cCg>cTg	p.P400L		NM_016190	NP_057274	Q9UBG3	CRNN_HUMAN	Homo sapiens cornulin (CRNN), mRNA.	400					cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding	p.P400L(2)		breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGTCCTCCCGGTACTGTCTC	0.612000													50	105					0	0	1	0	0
OR4C12	283093	broad.mit.edu	37	11	50003461	50003461	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:50003461G>T	uc010ria.2	-	0	611	c.577C>A	c.(577-579)Ctt>Att	p.L193I		NM_001005270	NP_001005270	Q96R67	OR4CC_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 12 (OR4C12), mRNA.	193					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						AAGAGACCAAGGGTATGAGTG	0.408000													5	151					0	0	1	0	0
PROCA1	147011	broad.mit.edu	37	17	27030734	27030734	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:27030734C>A	uc002hcb.3	-	4	1062	c.859G>T	c.(859-861)Ggg>Tgg	p.G287W	PROCA1_uc010crv.2_Missense_Mutation_p.G213W|PROCA1_uc002hca.1_Missense_Mutation_p.G285W	NM_152465	NP_689678	Q8NCQ7	PRCA1_HUMAN	Homo sapiens protein interacting with cyclin A1 (PROCA1), mRNA.	313					lipid catabolic process		calcium ion binding|phospholipase A2 activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(4)|ovary(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					TCTCCCTGCCCCCGGCCATTG	0.572000													7	212					0	0	1	0	0
SLC5A3	6526	broad.mit.edu	37	21	35468305	35468305	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr21:35468305C>A	uc021wir.1	+	0	808	c.808C>A	c.(808-810)Cca>Aca	p.P270T	SLC5A3_uc002yto.3_Missense_Mutation_p.P270T|MRPS6_uc002ytp.2_Intron	NM_006933	NP_008864	P53794	SC5A3_HUMAN	Homo sapiens solute carrier family 5 (sodium/myo-inositol cotransporter), member 3 (SLC5A3), mRNA.	270						integral to plasma membrane	myo-inositol:sodium symporter activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						TGGGCAGACCCCAGCTTCAGT	0.483000													6	199					0	0	1	0	0
PI4KAP2	375133	broad.mit.edu	37	22	21829507	21829507	+	Missense_Mutation	SNP	G	G	A	rs140118179	by1000genomes	TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr22:21829507G>A	uc002zuv.4	-	13	3895	c.1636C>T	c.(1636-1638)Ctc>Ttc	p.L546F	PI4KAP2_uc002zuw.3_Intron|PI4KAP2_uc011aid.2_Intron					Homo sapiens phosphatidylinositol 4-kinase, catalytic, alpha pseudogene 2 (PI4KAP2), non-coding RNA.											endometrium(3)|urinary_tract(1)	4						TACTTCAAGAGCTTGATTGTC	0.542000													5	10					0	0	1	0	0
IL10RA	3587	broad.mit.edu	37	11	117864009	117864009	+	Missense_Mutation	SNP	G	G	T	rs137853579		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:117864009G>T	uc001prv.3	+	3	498	c.421G>T	c.(421-423)Ggg>Tgg	p.G141W	IL10RA_uc010rxl.2_Missense_Mutation_p.G121W|IL10RA_uc010rxm.2_Missense_Mutation_p.G121W|IL10RA_uc010rxn.2_5'UTR|IL10RA_uc001prw.3_5'UTR	NM_001558	NP_001549	Q13651	I10R1_HUMAN	Homo sapiens interleukin 10 receptor, alpha (IL10RA), transcript variant 1, mRNA.	141			G -> R (in IBD28).			integral to membrane|plasma membrane	interleukin-10 receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		CTTCATCCTCGGGAAGATTCA	0.512000													5	93					0	0	1	0	0
NLGN1	22871	broad.mit.edu	37	3	173997338	173997338	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:173997338C>A	uc021xhm.1	+	5	1987	c.1667C>A	c.(1666-1668)cCc>cAc	p.P556H	NLGN1_uc003fio.1_Missense_Mutation_p.P516H|NLGN1_uc010hww.1_Missense_Mutation_p.P556H|NLGN1_uc003fip.1_Missense_Mutation_p.P516H	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	Homo sapiens neuroligin 1 (NLGN1), mRNA.	533					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of N-methyl-D-aspartate selective glutamate receptor activity|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			CTGGGAATCCCCATGATTGGC	0.443000													5	142					0	0	1	0	0
STK10	6793	broad.mit.edu	37	5	171471911	171471911	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:171471911G>T	uc003mbo.1	-	18	3182	c.2882C>A	c.(2881-2883)cCc>cAc	p.P961H		NM_005990	NP_005981	O94804	STK10_HUMAN	Homo sapiens serine/threonine kinase 10 (STK10), mRNA.	961							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AGAACTGTAGGGGAAGAACTT	0.587000													5	136					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238275770	238275770	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:238275770G>T	uc002vwl.2	-	10	5345	c.5060C>A	c.(5059-5061)cCc>cAc	p.P1687H	COL6A3_uc002vwo.2_Missense_Mutation_p.P1481H|COL6A3_uc010znj.1_Missense_Mutation_p.P1080H	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	1687	Nonhelical region.|VWFA 9.		P -> S (in dbSNP:rs35273032).		axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TTCGTCAGTGGGGTCAGAGTT	0.473000													4	65					0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108117984	108117984	+	Missense_Mutation	SNP	A	A	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:108117984A>T	uc003dxa.1	-	34	4984	c.4927T>A	c.(4927-4929)Tgt>Agt	p.C1643S		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	1643						myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity	p.C1643S(2)|p.S1642S(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						CGGTTGGCACAGCTAAGCTGG	0.488000													66	96					0	0	1	0	0
LRIT2	340745	broad.mit.edu	37	10	85981837	85981837	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:85981837G>A	uc010qmc.2	-	3	1530	c.1522C>T	c.(1522-1524)Cgc>Tgc	p.R508C	LRIT2_uc001kcy.3_Missense_Mutation_p.R498C	NM_001017924	NP_001017924	A6NDA9	LRIT2_HUMAN	Homo sapiens leucine-rich repeat, immunoglobulin-like and transmembrane domains 2 (LRIT2), mRNA.	498						integral to membrane		p.R498C(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						AGACAGCCGCGCAGGACCCAC	0.637000													38	87					0	0	1	0	0
NCAN	1463	broad.mit.edu	37	19	19337519	19337519	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:19337519C>A	uc002nlz.3	+	6	1396	c.1297C>A	c.(1297-1299)Cct>Act	p.P433T	NCAN_uc010ecc.1_5'UTR	NM_004386	NP_004377	O14594	NCAN_HUMAN	Homo sapiens neurocan (NCAN), mRNA.	433					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			CAGCCCTACCCCTGGGGACCC	0.622000													4	49					0	0	1	0	0
TEX26	122046	broad.mit.edu	37	13	31531071	31531071	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr13:31531071C>A	uc001uti.3	+	3	393	c.374C>A	c.(373-375)cCt>cAt	p.P125H		NM_152325	NP_689538	Q8N6G2	CM026_HUMAN	Homo sapiens chromosome 13 open reading frame 26 (C13orf26), mRNA.	125																	AACTGCCTCCCTTGGAAAATC	0.388000													5	117					0	0	1	0	0
OTX2	5015	broad.mit.edu	37	14	57271015	57271015	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr14:57271015C>A	uc001xcq.3	-	3	438	c.164G>T	c.(163-165)cGg>cTg	p.R55L	OTX2_uc001xcp.3_Missense_Mutation_p.R47L|OTX2_uc021rtm.1_Intron|OTX2_uc010aou.3_Missense_Mutation_p.R47L	NM_021728	NP_068374	P32243	OTX2_HUMAN	Homo sapiens orthodenticle homeobox 2 (OTX2), transcript variant 1, mRNA.	47					axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway	growth cone|nucleus|protein complex	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|eukaryotic initiation factor 4E binding|sequence-specific DNA binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					TAGCTGCGCCCGAGTGAACGT	0.602000													4	73					0	0	1	0	0
BSG	682	broad.mit.edu	37	19	579636	579636	+	Silent	SNP	C	C	A	rs142283391		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:579636C>A	uc002loz.3	+	2	650	c.552C>A	c.(550-552)ccC>ccA	p.P184P	BSG_uc002loy.3_Intron|BSG_uc021ulx.1_5'UTR|BSG_uc002lpa.3_Silent_p.P68P|BSG_uc002lpc.3_Silent_p.P231P	NM_001728	NP_001719	P35613	BASI_HUMAN	Homo sapiens basigin (Ok blood group) (BSG), transcript variant 1, mRNA.	184	Ig-like C2-type.				blood coagulation|cell surface receptor linked signaling pathway|leukocyte migration|pyruvate metabolic process	Golgi membrane|integral to membrane|melanosome	lactate transmembrane transporter activity|mannose binding|protein binding			central_nervous_system(1)|endometrium(3)|lung(1)	5		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACGCGCTGCCCGGCCAGAAAA	0.642000													4	57					0	0	1	0	0
MAN2A1	4124	broad.mit.edu	37	5	109106195	109106195	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:109106195C>A	uc003kou.1	+	6	2112	c.1149C>A	c.(1147-1149)ccC>ccA	p.P383P		NM_002372	NP_002363	Q16706	MA2A1_HUMAN	Homo sapiens mannosidase, alpha, class 2A, member 1 (MAN2A1), mRNA.	383					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		TTGGTTGTCCCTGGGGAGTCC	0.433000													6	215					0	0	1	0	0
IGSF10	285313	broad.mit.edu	37	3	151166339	151166339	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:151166339C>A	uc011bod.2	-	3	1430	c.1430G>T	c.(1429-1431)aGg>aTg	p.R477M		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	477	Ig-like C2-type 1.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATTGTTATCCCTTGAAATCAT	0.473000													8	329					0	0	1	0	0
CNTROB	116840	broad.mit.edu	37	17	7852466	7852466	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:7852466C>A	uc002gjp.3	+	18	3593	c.2643C>A	c.(2641-2643)ccC>ccA	p.P881P	CNTROB_uc002gjq.3_Silent_p.P859P|CNTROB_uc002gjr.3_Silent_p.P762P	NM_001037144	NP_001032221	Q8N137	CNTRB_HUMAN	Homo sapiens centrobin, centrosomal BRCA2 interacting protein (CNTROB), transcript variant 2, mRNA.	859	Required for centrosome localization.				centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				GTGAGATCCCCCGGAAAGAGG	0.572000													6	87					0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43847793	43847793	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:43847793C>A	uc010skx.2	-	11	1677	c.1677G>T	c.(1675-1677)tgG>tgT	p.W559C		NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	559	TSP type-1 1.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CCCATGGTCCCCATTCACCAT	0.413000													4	44					0	0	1	0	0
ZNF764	92595	broad.mit.edu	37	16	30566564	30566564	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr16:30566564G>T	uc002dyq.3	-	2	1317	c.1178C>A	c.(1177-1179)cCg>cAg	p.P393Q	ZNF764_uc002dyr.2_Missense_Mutation_p.P392Q	NM_033410	NP_219363	Q96H86	ZN764_HUMAN	Homo sapiens zinc finger protein 764 (ZNF764), transcript variant 1, mRNA.	393					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P393P(1)		kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7						GCCCACGGGCGGGTCCAGGTC	0.652000													5	89					0	0	1	0	0
USP6	9098	broad.mit.edu	37	17	5040480	5040480	+	Splice_Site	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:5040480G>T	uc002gau.1	+	19	3055	c.825_splice	c.e19+1	p.G275_splice	USP6_uc002gav.1_Splice_Site_p.G275_splice|USP6_uc010ckz.1_Splice_Site|DQ584383_uc021toj.1_5'Flank|DQ574802_uc021tok.1_5'Flank|DQ573130_uc002gbd.3_5'Flank	NM_004505	NP_004496	P35125	UBP6_HUMAN	Homo sapiens ubiquitin specific peptidase 6 (Tre-2 oncogene) (USP6), mRNA.	275	Rab-GAP TBC.				protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	Rab GTPase activator activity|calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CTGATTGACGGGGTAAGGAGG	0.642000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts								5	107					0	0	1	0	0
SGIP1	84251	broad.mit.edu	37	1	67195045	67195045	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:67195045G>T	uc001dcr.3	+	19	2058	c.1841G>T	c.(1840-1842)cGg>cTg	p.R614L	SGIP1_uc010opd.2_Missense_Mutation_p.R214L|SGIP1_uc001dcs.3_Missense_Mutation_p.R214L|SGIP1_uc001dct.3_Missense_Mutation_p.R216L|SGIP1_uc009wat.3_Missense_Mutation_p.R408L|SGIP1_uc001dcu.3_Missense_Mutation_p.R119L	NM_032291	NP_115667	Q9BQI5	SGIP1_HUMAN	Homo sapiens SH3-domain GRB2-like (endophilin) interacting protein 1 (SGIP1), mRNA.	614					positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	SH3 domain binding|microtubule binding|phospholipid binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						CTGACTTTTCGGGTGATAAAT	0.443000													6	234					0	0	1	0	0
STIL	6491	broad.mit.edu	37	1	47746590	47746590	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:47746590C>A	uc001crd.1	-	11	1695	c.1540G>T	c.(1540-1542)Ggg>Tgg	p.G514W	TAL1_uc001crb.1_Intron|STIL_uc010omn.1_Missense_Mutation_p.G467W|STIL_uc010omo.1_Missense_Mutation_p.G514W|STIL_uc001crc.1_Missense_Mutation_p.G514W|STIL_uc001cre.1_Missense_Mutation_p.G514W|STIL_uc001crf.1_Missense_Mutation_p.G127W|STIL_uc001crg.1_Missense_Mutation_p.G467W	NM_001048166	NP_001041631	Q15468	STIL_HUMAN	Homo sapiens SCL/TAL1 interrupting locus (STIL), transcript variant 1, mRNA.	514					cell proliferation|multicellular organismal development	centrosome|cytosol				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				TGGGGGTTCCCTTTCTTATAG	0.418000													9	222					0	0	1	0	0
VTRNA2-1	100126299	broad.mit.edu	37	5	135416205	135416205	+	RNA	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:135416205C>A	uc021ydy.1	-	0		c.82G>T								Homo sapiens vault RNA 2-1 (VTRNA2-1), vault RNA.																		AGTAAGCACCCGCGGGTCTCG	0.463000													4	67					0	0	1	0	0
ABCA4	24	broad.mit.edu	37	1	94517240	94517240	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:94517240G>T	uc001dqh.3	-	16	2706	c.2602C>A	c.(2602-2604)Cca>Aca	p.P868T	ABCA4_uc010otn.1_Missense_Mutation_p.P794T	NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	868					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CAAGGAAGTGGGGTTCCATAG	0.398000													5	100					0	0	1	0	0
UMODL1	89766	broad.mit.edu	37	21	43543034	43543034	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr21:43543034C>A	uc002zag.1	+	15	3305	c.3305C>A	c.(3304-3306)cCc>cAc	p.P1102H	UMODL1_uc002zad.1_Missense_Mutation_p.P902H|UMODL1_uc002zae.1_Missense_Mutation_p.P1030H|UMODL1_uc002zaf.1_Missense_Mutation_p.P974H|UMODL1_uc002zal.1_5'UTR	NM_173568	NP_001186456	Q5DID0	UROL1_HUMAN	Homo sapiens uromodulin-like 1 (UMODL1), transcript variant 2, mRNA.	974	ZP.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						GGCACCAGCCCCACCCCCCAA	0.632000													5	58					0	0	1	0	0
RNF17	56163	broad.mit.edu	37	13	25416253	25416253	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr13:25416253A>G	uc001upr.3	+	18	2598	c.2557A>G	c.(2557-2559)Att>Gtt	p.I853V	RNF17_uc010tdd.1_Missense_Mutation_p.I712V|RNF17_uc010tde.2_Missense_Mutation_p.I853V|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_Missense_Mutation_p.I792V|RNF17_uc010aac.3_Missense_Mutation_p.I51V|RNF17_uc010aad.3_5'Flank	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA.	853					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding	p.I853V(1)		NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TACTACTAGTATTAATGACCA	0.343000													55	127					0	0	1	0	0
BPNT1	10380	broad.mit.edu	37	1	220247316	220247316	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:220247316C>A	uc001hma.3	-	2	390	c.218G>T	c.(217-219)gGg>gTg	p.G73V	RNU5F-1_uc021pjd.1_Intron|BPNT1_uc010pug.2_Missense_Mutation_p.G18V|BPNT1_uc010puh.2_Missense_Mutation_p.G73V	NM_006085	NP_006076	O95861	BPNT1_HUMAN	Homo sapiens 3'(2'), 5'-bisphosphate nucleotidase 1 (BPNT1), mRNA.	73					3'-phosphoadenosine 5'-phosphosulfate metabolic process|nervous system development|xenobiotic metabolic process	cytosol	3'(2'),5'-bisphosphate nucleotidase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)|skin(1)	14				GBM - Glioblastoma multiforme(131;0.0558)		TACCTCTTCCCCTATAATTGT	0.388000													9	384					0	0	1	0	0
TNKS1BP1	85456	broad.mit.edu	37	11	57077242	57077242	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:57077242G>T	uc001njr.3	-	4	3255	c.2943C>A	c.(2941-2943)ccC>ccA	p.P981P	TNKS1BP1_uc001njs.3_Silent_p.P981P|TNKS1BP1_uc009ymd.1_Silent_p.P432P	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN	Homo sapiens tankyrase 1 binding protein 1, 182kDa (TNKS1BP1), mRNA.	981	Acidic.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				CAGAGCTCAGGGGTCTCGTTC	0.567000													8	167					0	0	1	0	0
EPN2	22905	broad.mit.edu	37	17	19235220	19235220	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:19235220C>A	uc002gvd.4	+	9	1914	c.1466C>A	c.(1465-1467)cCc>cAc	p.P489H	EPN2_uc010cql.1_Missense_Mutation_p.P198H|EPN2_uc002gve.4_Missense_Mutation_p.P432H|EPN2_uc002gvf.4_Missense_Mutation_p.P204H|EPN2_uc010vyo.2_Missense_Mutation_p.P197H|EPN2_uc002gvh.1_Intron|EPN2_uc010vyp.2_Missense_Mutation_p.P425H|EPN2_uc010vyq.2_Missense_Mutation_p.P426H|EPN2_uc002gvj.3_Missense_Mutation_p.P152H	NM_014964	NP_001096134	O95208	EPN2_HUMAN	Homo sapiens epsin 2 (EPN2), transcript variant 2, mRNA.	489	6 X 3 AA repeats of [DE]-P-W.				endocytosis		lipid binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	19	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)					AGCCCTGACCCCTTTGAGTCT	0.582000													7	240					0	0	1	0	0
CPSF3	51692	broad.mit.edu	37	2	9595849	9595849	+	Silent	SNP	C	C	G			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:9595849C>G	uc002qzo.1	+	12	1601	c.1566C>G	c.(1564-1566)ccC>ccG	p.P522P	CPSF3_uc010ewx.1_Silent_p.P473P|CPSF3_uc002qzp.1_Silent_p.P485P	NM_016207	NP_057291	Q9UKF6	CPSF3_HUMAN	Homo sapiens cleavage and polyadenylation specific factor 3, 73kDa (CPSF3), mRNA.	522					histone mRNA 3'-end processing|mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex|ribonucleoprotein complex	5'-3' exonuclease activity|RNA binding|endoribonuclease activity|metal ion binding|protein binding	p.P522P(2)		NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308)		all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644)		ATACTGGTCCCTTTAATTTGC	0.383000													14	121					0	0	1	0	0
ACRV1	56	broad.mit.edu	37	11	125547733	125547733	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:125547733C>A	uc001qcs.3	-	1	630	c.512G>T	c.(511-513)gGg>gTg	p.G171V	ACRV1_uc001qcl.3_Missense_Mutation_p.G101V|ACRV1_uc001qcn.3_Missense_Mutation_p.G116V|ACRV1_uc001qcr.3_Intron	NM_001612	NP_001603	P26436	ASPX_HUMAN	Homo sapiens acrosomal vesicle protein 1 (ACRV1), transcript variant 1, mRNA.	171	9 X 5 AA repeats of [SV]-G-E-Q-[PSA].				multicellular organismal development	acrosomal vesicle				kidney(1)|large_intestine(3)|lung(2)	6	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0179)|Lung NSC(97;0.0185)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0713)		AGCCTGTTCCCCTGAAGCGTG	0.542000													5	137					0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197404276	197404276	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:197404276G>T	uc001gtz.3	+	8	3492	c.3283G>T	c.(3283-3285)Ggg>Tgg	p.G1095W	CRB1_uc010poz.2_Missense_Mutation_p.G1071W|CRB1_uc009wza.3_Missense_Mutation_p.G983W|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Intron|CRB1_uc010ppd.2_Missense_Mutation_p.G576W|CRB1_uc001gub.1_Missense_Mutation_p.G744W	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	1095	Laminin G-like 3.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						GGGCCTGCAAGGGTGTCTAAG	0.368000													6	213					0	0	1	0	0
ILDR2	387597	broad.mit.edu	37	1	166927175	166927175	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:166927175C>A	uc001gdx.2	-	1	266	c.210G>T	c.(208-210)ttG>ttT	p.L70F		NM_199351	NP_955383	Q71H61	ILDR2_HUMAN	Homo sapiens immunoglobulin-like domain containing receptor 2 (ILDR2), mRNA.	70	Ig-like V-type.					integral to membrane				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						AGGACATGCCCAAGGATTCTC	0.542000													6	232					0	0	1	0	0
CSPP1	79848	broad.mit.edu	37	8	68028335	68028335	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr8:68028335C>A	uc003xxi.3	+	12	1595	c.1564C>A	c.(1564-1566)Ctt>Att	p.L522I	CSPP1_uc003xxg.1_Missense_Mutation_p.L514I|CSPP1_uc003xxh.1_Non-coding_Transcript|CSPP1_uc003xxj.3_Missense_Mutation_p.L487I|CSPP1_uc003xxk.3_Missense_Mutation_p.L193I	NM_024790	NP_079066	Q1MSJ5	CSPP1_HUMAN	Homo sapiens centrosome and spindle pole associated protein 1 (CSPP1), mRNA.	522	Pro-rich.					centrosome|microtubule|spindle				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			CAGCAGCGCCCTTGGTGAAAT	0.443000													8	254					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100352869	100352869	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr7:100352869C>A	uc003uwj.3	+	14	3310	c.3145C>A	c.(3145-3147)Cgc>Agc	p.R1049S	ZAN_uc003uwk.3_Missense_Mutation_p.R1049S|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	1049	TIL 1.				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TCCAAATGCCCGCTACGAATC	0.572000													8	319					0	0	1	0	0
HPS6	79803	broad.mit.edu	37	10	103826902	103826902	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:103826902C>A	uc001kuj.3	+	0	1779	c.1671C>A	c.(1669-1671)ccC>ccA	p.P557P		NM_024747	NP_079023	Q86YV9	HPS6_HUMAN	Homo sapiens Hermansky-Pudlak syndrome 6 (HPS6), mRNA.	557						cytosol|early endosome membrane|endoplasmic reticulum|microsome				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		GAAAGGAACCCCCCAATGGAA	0.587000									Hermansky-Pudlak syndrome				5	118					0	0	1	0	0
STRBP	55342	broad.mit.edu	37	9	125895156	125895156	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:125895156C>A	uc004bns.3	-	16	2307	c.1865G>T	c.(1864-1866)gGg>gTg	p.G622V	STRBP_uc004bnt.3_Missense_Mutation_p.G440V|STRBP_uc004bnu.3_Missense_Mutation_p.G608V|STRBP_uc004bnv.3_Missense_Mutation_p.G622V	NM_018387	NP_001164608	Q96SI9	STRBP_HUMAN	Homo sapiens spermatid perinuclear RNA binding protein (STRBP), transcript variant 1, mRNA.	622					multicellular organismal development	cytoplasm|nucleus	DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(6)|prostate(1)|skin(2)	26						AGCTGTCGCCCCAACAAAAGC	0.507000													6	122					0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89401085	89401085	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr15:89401085G>T	uc010upo.1	+	11	5643	c.5269G>T	c.(5269-5271)Ggg>Tgg	p.G1757W	ACAN_uc010upp.1_Missense_Mutation_p.G1757W|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	1757					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			TGAGCTTAGCGGGCTGTCCTC	0.493000													7	155					0	0	1	0	0
SOGA2	23255	broad.mit.edu	37	18	8819031	8819031	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr18:8819031C>A	uc002knr.2	+	12	3072	c.2930C>A	c.(2929-2931)cCc>cAc	p.P977H	SOGA2_uc002knq.2_Missense_Mutation_p.P936H|SOGA2_uc002kns.2_Intron	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN	Homo sapiens coiled-coil domain containing 165 (CCDC165), mRNA.	1287																	AACGTTCGCCCCTTTCCCCAC	0.527000													6	152					0	0	1	0	0
SLC6A11	6538	broad.mit.edu	37	3	10976836	10976836	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:10976836C>A	uc003bvz.3	+	12	1731	c.1697C>A	c.(1696-1698)cCg>cAg	p.P566Q		NM_014229	NP_055044	P48066	S6A11_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 11 (SLC6A11), mRNA.	566					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	p.P566Q(2)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)		CTCTGCATCCCGCTCTGGATC	0.602000													6	192					0	0	1	0	0
SPESP1	246777	broad.mit.edu	37	15	69238017	69238017	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr15:69238017C>A	uc002arn.2	+	1	298	c.144C>A	c.(142-144)ccC>ccA	p.P48P	MIR548H4_uc021spl.1_Intron|NOX5_uc002arq.2_Intron|NOX5_uc002arp.2_Intron|NOX5_uc010bid.2_Intron	NM_145658	NP_663633	Q6UW49	SPESP_HUMAN	Homo sapiens sperm equatorial segment protein 1 (SPESP1), mRNA.	48					multicellular organismal development	acrosomal vesicle				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	19						GAAGTGTTCCCTCTGGGGAGC	0.373000													7	227					0	0	1	0	0
OXSM	54995	broad.mit.edu	37	3	25833460	25833460	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:25833460C>A	uc003cdn.3	+	1	1056	c.949C>A	c.(949-951)Cct>Act	p.P317T	NGLY1_uc011awo.2_5'Flank|OXSM_uc010hfh.3_Missense_Mutation_p.P234T|OXSM_uc011awp.2_Missense_Mutation_p.P42T	NM_017897	NP_060367	Q9NWU1	OXSM_HUMAN	Homo sapiens 3-oxoacyl-ACP synthase, mitochondrial (OXSM), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	317					acyl-CoA metabolic process|medium-chain fatty acid biosynthetic process|short-chain fatty acid biosynthetic process	mitochondrion	3-oxoacyl-[acyl-carrier-protein] synthase activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						CATAACTGCCCCTGATCCTGA	0.428000													6	205					0	0	1	0	0
TIAL1	7073	broad.mit.edu	37	10	121339514	121339514	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:121339514C>A	uc001lei.1	-	5	944	c.380G>T	c.(379-381)cGg>cTg	p.R127L	TIAL1_uc001leh.1_Missense_Mutation_p.R105L|TIAL1_uc001lej.1_Missense_Mutation_p.R144L|TIAL1_uc001lek.1_Missense_Mutation_p.R4L|TIAL1_uc010qtb.1_Missense_Mutation_p.R4L	NM_003252	NP_003243	Q01085	TIAR_HUMAN	Homo sapiens TIA1 cytotoxic granule-associated RNA binding protein-like 1 (TIAL1), transcript variant 1, mRNA.	127	RRM 2.				apoptosis|defense response|induction of apoptosis|regulation of transcription from RNA polymerase II promoter	lysosome|nucleus|stress granule	RNA binding|nucleotide binding	p.R144L(1)|p.T126I(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	13		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.00239)|BRCA - Breast invasive adenocarcinoma(275;0.0932)		TTTAACTACCCGGGCATCCCT	0.368000													4	121					0	0	1	0	0
DNAI2	64446	broad.mit.edu	37	17	72285780	72285780	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:72285780C>A	uc002jkf.3	+	4	625	c.515C>A	c.(514-516)cCc>cAc	p.P172H	DNAI2_uc002jkg.3_Missense_Mutation_p.P172H|DNAI2_uc010dfp.3_Non-coding_Transcript	NM_023036	NP_075462	Q9GZS0	DNAI2_HUMAN	Homo sapiens dynein, axonemal, intermediate chain 2 (DNAI2), transcript variant 1, mRNA.	172					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						TCCTGGCACCCCGATGGCAAC	0.582000									Kartagener syndrome				4	69					0	0	1	0	0
NADK	65220	broad.mit.edu	37	1	1685503	1685503	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:1685503C>A	uc001aic.3	-	9	1310	c.1088G>T	c.(1087-1089)gGg>gTg	p.G363V	NADK_uc001aid.4_Missense_Mutation_p.G363V|NADK_uc001aie.3_Missense_Mutation_p.G508V|NADK_uc010nyv.2_Missense_Mutation_p.G331V	NM_023018	NP_075394	O95544	NADK_HUMAN	Homo sapiens NAD kinase (NADK), transcript variant 1, mRNA.	363					ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process	cytosol	ATP binding|NAD+ kinase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1)	17	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)		CAGCTCGACCCCTGCGGGGAC	0.642000													6	135					0	0	1	0	0
SBNO1	55206	broad.mit.edu	37	12	123812310	123812310	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:123812310C>A	uc010tap.2	-	10	1482	c.1482G>T	c.(1480-1482)tgG>tgT	p.W494C	SBNO1_uc010tao.2_Missense_Mutation_p.W493C|SBNO1_uc010taq.2_Intron|SBNO1_uc001ueu.2_Missense_Mutation_p.W493C|SBNO1_uc001uet.2_Missense_Mutation_p.W494C|SBNO1_uc001uev.2_Missense_Mutation_p.W492C|SBNO1_uc009zxy.1_Missense_Mutation_p.W459C	NM_001167856	NP_001161328	A3KN83	SBNO1_HUMAN	Homo sapiens strawberry notch homolog 1 (Drosophila) (SBNO1), transcript variant 1, mRNA.	494							ATP binding|DNA binding|hydrolase activity			NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		TACCCTCACCCCATATGCCAA	0.378000													5	135					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	8959691	8959691	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:8959691G>A	uc002mkp.3	-	83	43645	c.43441C>T	c.(43441-43443)Cgg>Tgg	p.R14481W	MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Missense_Mutation_p.R1281W|MUC16_uc021uog.1_Non-coding_Transcript	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	22126	SEA 16.			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.R14481W(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCCTTCTTCCGCCGGCGGGTG	0.582000													8	17					0	0	1	0	0
SLMAP	7871	broad.mit.edu	37	3	57882650	57882650	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:57882650C>A	uc003dje.1	+	14	1646	c.1441C>A	c.(1441-1443)Ctt>Att	p.L481I	SLMAP_uc003djc.1_Missense_Mutation_p.L477I|SLMAP_uc003djd.1_Missense_Mutation_p.L464I|SLMAP_uc003djf.1_Missense_Mutation_p.L443I|SLMAP_uc003djg.1_Missense_Mutation_p.L75I|SLMAP_uc011bez.1_Missense_Mutation_p.L15I|SLMAP_uc011bfa.1_Missense_Mutation_p.L15I|SLMAP_uc003djh.3_Missense_Mutation_p.L15I|SLMAP_uc003dji.1_Missense_Mutation_p.L15I|SLMAP_uc011bfb.1_Missense_Mutation_p.L15I|SLMAP_uc011bfc.1_Missense_Mutation_p.L15I	NM_007159	NP_009090	Q14BN4	SLMAP_HUMAN	Homo sapiens sarcolemma associated protein (SLMAP), mRNA.	481					muscle contraction|protein folding	integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum	unfolded protein binding	p.L464F(1)		endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2)	18				BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)		CAAAGTGTCCCTTTTAAAAGG	0.343000													6	236					0	0	1	0	0
RRP12	23223	broad.mit.edu	37	10	99139075	99139075	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:99139075G>T	uc001knf.3	-	14	1912	c.1773C>A	c.(1771-1773)ccC>ccA	p.P591P	RRP12_uc009xvm.3_Silent_p.P309P|RRP12_uc010qou.2_Silent_p.P530P|RRP12_uc009xvn.3_Silent_p.P491P	NM_015179	NP_055994	Q5JTH9	RRP12_HUMAN	Homo sapiens ribosomal RNA processing 12 homolog (S. cerevisiae) (RRP12), transcript variant 1, mRNA.	591						integral to membrane|nuclear membrane|nucleolus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		TGTTAGCCAGGGGCAAGAAGT	0.562000													10	445					0	0	1	0	0
PROKR1	10887	broad.mit.edu	37	2	68882252	68882252	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:68882252G>T	uc010yqj.2	+	1	886	c.726G>T	c.(724-726)gtG>gtT	p.V242V	PROKR1_uc002ses.3_Non-coding_Transcript	NM_138964	NP_620414	Q8TCW9	PKR1_HUMAN	Homo sapiens prokineticin receptor 1 (PROKR1), mRNA.	242						integral to membrane|plasma membrane	neuropeptide Y receptor activity	p.V242V(2)		endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TAGAATTCGTGGGCCCCGTGG	0.557000													32	86					0	0	1	0	0
URI1	8725	broad.mit.edu	37	19	30476158	30476158	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:30476158C>A	uc002nsr.3	+	2	490	c.181C>A	c.(181-183)Ctt>Att	p.L61I	URI1_uc002nsq.3_Missense_Mutation_p.L43I|URI1_uc002nss.3_Missense_Mutation_p.L21I|URI1_uc002nst.3_5'UTR	NM_003796	NP_003787	O94763	RMP_HUMAN	Homo sapiens URI1, prefoldin-like chaperone (URI1), transcript variant 1, mRNA.	61					protein folding|regulation of transcription from RNA polymerase II promoter|response to virus	DNA-directed RNA polymerase II, core complex|prefoldin complex	transcription corepressor activity|unfolded protein binding										CTATAATGCCCTTCGAGAAAG	0.274000													9	391					0	0	1	0	0
ZFP161	7541	broad.mit.edu	37	18	5291874	5291874	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr18:5291874C>A	uc002kmq.3	-	3	495	c.333G>T	c.(331-333)tcG>tcT	p.S111S	ZFP161_uc002kmr.3_Silent_p.S111S|ZFP161_uc010dkp.3_Silent_p.S111S|ZFP161_uc021ugn.1_Silent_p.S111S	NM_001243702	NP_001230631	O43829	ZF161_HUMAN	Homo sapiens zinc finger protein 161 homolog (mouse) (ZFP161), transcript variant 3, mRNA.	111					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)	22						GAATCTGACCCGATGACATCA	0.373000													7	226					0	0	1	0	0
TPRX1	284355	broad.mit.edu	37	19	48305095	48305095	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:48305095G>T	uc002php.2	-	1	1313	c.1173C>A	c.(1171-1173)ccC>ccA	p.P391P		NM_198479	NP_940881	Q8N7U7	TPRX1_HUMAN	Homo sapiens tetra-peptide repeat homeobox 1 (TPRX1), mRNA.	391						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1)	18		all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048)		CCTCCTCTTGGGGCTGAGACC	0.527000													7	293					0	0	1	0	0
VILL	50853	broad.mit.edu	37	3	38038999	38038999	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:38038999G>T	uc003chj.3	+	6	873	c.587G>T	c.(586-588)cGg>cTg	p.R196L	VILL_uc003chk.1_Missense_Mutation_p.R196L|VILL_uc003chl.3_Missense_Mutation_p.R196L|VILL_uc010hgu.3_Missense_Mutation_p.R26L	NM_015873	NP_056957	O15195	VILL_HUMAN	Homo sapiens villin-like (VILL), mRNA.	196					actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton	p.R196L(2)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		TACAGCCTCCGGGACAGGGAA	0.622000													4	69					0	0	1	0	0
STOX1	219736	broad.mit.edu	37	10	70644295	70644295	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:70644295G>T	uc001jos.2	+	2	830	c.743G>T	c.(742-744)cGg>cTg	p.R248L	STOX1_uc001joq.3_Missense_Mutation_p.R138L|STOX1_uc001jor.3_Intron|STOX1_uc009xpy.3_Intron|STOX1_uc021prw.1_Missense_Mutation_p.R138L	NM_001130161	NP_689922	Q6ZVD7	STOX1_HUMAN	Homo sapiens storkhead box 1 (STOX1), transcript variant 2, mRNA.	248						cytoplasm|nucleolus	DNA binding			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						CAGTGTTTCCGGGACATGCAC	0.522000													7	191					0	0	1	0	0
ANKRD36	375248	broad.mit.edu	37	2	97869931	97869931	+	Missense_Mutation	SNP	A	A	T	rs76309140		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:97869931A>T	uc010yva.2	+	49	3236	c.2992A>T	c.(2992-2994)Aca>Tca	p.T998S	ANKRD36_uc002sxp.3_Non-coding_Transcript	NM_001164315	NP_001157787	A6QL64	AN36A_HUMAN	Homo sapiens ankyrin repeat domain 36 (ANKRD36), mRNA.	998								p.T998S(13)		endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						CATTCAGGCTACAAGTGATGA	0.289000													5	33					0	0	1	0	0
HAPLN2	60484	broad.mit.edu	37	1	156593630	156593630	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:156593630C>A	uc001fpn.1	+	3	524	c.117C>A	c.(115-117)ccC>ccA	p.P39P	HAPLN2_uc010phq.1_Silent_p.P39P	NM_021817	NP_068589	Q9GZV7	HPLN2_HUMAN	Homo sapiens hyaluronan and proteoglycan link protein 2 (HAPLN2), mRNA.	39	Ig-like V-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			NS(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	7	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ACCTCCTGCCCCCCATCCACG	0.682000													3	14					0	0	1	0	0
ZNHIT1	10467	broad.mit.edu	37	7	100865932	100865932	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr7:100865932C>A	uc003uye.3	+	1	562	c.70C>A	c.(70-72)Cgg>Agg	p.R24R	ZNHIT1_uc003uyf.3_Non-coding_Transcript	NM_006349	NP_006340	O43257	ZNHI1_HUMAN	Homo sapiens zinc finger, HIT-type containing 1 (ZNHIT1), mRNA.	24							metal ion binding|protein binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)	11	Lung NSC(181;0.168)|all_lung(186;0.215)					CCGGGCTGCCCGGCAGCGTCG	0.652000													7	113					0	0	1	0	0
LCE1E	353135	broad.mit.edu	37	1	152759854	152759854	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:152759854C>A	uc021ozg.1	+	0	79	c.79C>A	c.(79-81)Ccc>Acc	p.P27T	LCE1E_uc001fan.3_Missense_Mutation_p.P27T	NM_178353	NP_848130	Q5T753	LCE1E_HUMAN	Homo sapiens late cornified envelope 1E (LCE1E), mRNA.	27	Cys-rich.				keratinization					lung(5)|stomach(1)	6	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			gtgTCCCACCCCCAAATGCCC	0.632000													8	160					0	0	1	0	0
SCGB2A2	4250	broad.mit.edu	37	11	62038408	62038408	+	Silent	SNP	G	G	C			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:62038408G>C	uc001ntc.3	+	1	170	c.111G>C	c.(109-111)gtG>gtC	p.V37V	SCGB2A2_uc009ynx.3_Silent_p.V37V	NM_002411	NP_002402	Q13296	SG2A2_HUMAN	Homo sapiens secretoglobin, family 2A, member 2 (SCGB2A2), mRNA.	37						extracellular region	steroid binding	p.V37V(2)		large_intestine(1)|lung(4)|ovary(1)|prostate(1)	7						ATCCACAAGTGTCTAAGACTG	0.418000													55	128					0	0	1	0	0
DLGAP3	58512	broad.mit.edu	37	1	35370070	35370070	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:35370070C>A	uc001byc.3	-	0	915	c.915G>T	c.(913-915)tcG>tcT	p.S305S		NM_001080418	NP_001073887	O95886	DLGP3_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 3 (DLGAP3), mRNA.	305					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane		p.S305S(4)|p.R304L(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				CCGACCCGCCCGAGCGCCCCT	0.657000													5	95					0	0	1	0	0
CEP250	11190	broad.mit.edu	37	20	34099252	34099252	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr20:34099252C>A	uc021wco.1	+	34	7773	c.7126C>A	c.(7126-7128)Cgc>Agc	p.R2376S	CEP250_uc010zve.2_Missense_Mutation_p.R1744S	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	Homo sapiens centrosomal protein 250kDa (CEP250), mRNA.	2376					G2/M transition of mitotic cell cycle|centriole-centriole cohesion|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			CTACATCACCCGCTCAGCACA	0.592000													4	59					0	0	1	0	0
IL12RB2	3595	broad.mit.edu	37	1	67861329	67861329	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:67861329C>A	uc001ddu.3	+	15	2786	c.2146C>A	c.(2146-2148)Cca>Aca	p.P716T	IL12RB2_uc010oqi.2_3'UTR|IL12RB2_uc010oqj.2_3'UTR|IL12RB2_uc010oqk.2_Non-coding_Transcript|IL12RB2_uc010oql.2_Missense_Mutation_p.P630T|IL12RB2_uc010oqm.2_3'UTR|IL12RB2_uc010oqn.2_Non-coding_Transcript	NM_001559	NP_001550	Q99665	I12R2_HUMAN	Homo sapiens interleukin 12 receptor, beta 2 (IL12RB2), mRNA.	716					positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						TCAAGTGACCCCAGTTTTCAG	0.537000													5	106					0	0	1	0	0
GJA5	2702	broad.mit.edu	37	1	147230995	147230995	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:147230995G>A	uc021ovl.1	-	0	352	c.352C>T	c.(352-354)Cgg>Tgg	p.R118W	GJA5_uc001eps.1_Missense_Mutation_p.R118W|GJA5_uc001ept.1_Missense_Mutation_p.R118W	NM_181703	NP_859054	P36382	CXA5_HUMAN	Homo sapiens gap junction protein, alpha 5, 40kDa (GJA5), transcript variant B, mRNA.	118					angiogenesis|cell-cell junction assembly|muscle contraction	integral to membrane		p.R118W(2)		breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			CCAGAGCCCCGGACCTCTTTG	0.622000													53	149					0	0	1	0	0
C6orf222	389384	broad.mit.edu	37	6	36297859	36297859	+	Splice_Site	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:36297859C>A	uc003oly.3	-	2	788	c.610_splice	c.e2+1	p.G204_splice		NM_001010903	NP_001010903	P0C671	CF222_HUMAN	Homo sapiens chromosome 6 open reading frame 222 (C6orf222), mRNA.	204										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						TCCGCTCACCCCTGCGAGCTG	0.647000													6	107					0	0	1	0	0
SLC5A3	6526	broad.mit.edu	37	21	35467811	35467811	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr21:35467811G>T	uc021wir.1	+	0	314	c.314G>T	c.(313-315)gGg>gTg	p.G105V	SLC5A3_uc002yto.3_Missense_Mutation_p.G105V|MRPS6_uc002ytp.2_Intron	NM_006933	NP_008864	P53794	SC5A3_HUMAN	Homo sapiens solute carrier family 5 (sodium/myo-inositol cotransporter), member 3 (SLC5A3), mRNA.	105						integral to plasma membrane	myo-inositol:sodium symporter activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						ATCCGGTCAGGGGTATATACC	0.453000													13	421					0	0	1	0	0
DNM2	1785	broad.mit.edu	37	19	10935779	10935779	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:10935779C>A	uc002mpt.2	+	17	2130	c.1940C>A	c.(1939-1941)cCc>cAc	p.P647H	DNM2_uc010dxk.2_Intron|DNM2_uc002mps.2_Missense_Mutation_p.P647H|DNM2_uc010dxl.2_Missense_Mutation_p.P647H|DNM2_uc002mpu.2_Missense_Mutation_p.P643H|DNM2_uc002mpv.2_Missense_Mutation_p.P643H|DNM2_uc002mpw.3_Missense_Mutation_p.P376H|DNM2_uc002mpx.1_Missense_Mutation_p.P3H	NM_001005360	NP_001005360	P50570	DYN2_HUMAN	Homo sapiens dynamin 2 (DNM2), transcript variant 1, mRNA.	647					G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	Golgi membrane|cell junction|cytosol|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding	p.E646G(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			TCCATGGACCCCCAACTGGAG	0.602000			"""F, N, Splice, Mis, O"""		ETP ALL								5	108					0	0	1	0	0
STEAP2	261729	broad.mit.edu	37	7	89856339	89856339	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr7:89856339C>A	uc010len.3	+	3	1053	c.547C>A	c.(547-549)Cgc>Agc	p.R183S	STEAP2_uc003ujy.2_Missense_Mutation_p.R225S|STEAP2_uc003uka.3_Missense_Mutation_p.R183S|STEAP2_uc003ujz.3_Missense_Mutation_p.R183S|STEAP2_uc003ukc.3_Missense_Mutation_p.R183S|STEAP2_uc003ukb.3_Missense_Mutation_p.R183S|STEAP2_uc003ukd.3_Missense_Mutation_p.R183S	NM_001244944	NP_001231873	Q8NFT2	STEA2_HUMAN	Homo sapiens STEAP family member 2, metalloreductase (STEAP2), transcript variant 4, mRNA.	183					Golgi to plasma membrane transport|electron transport chain|endocytosis|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus	cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15	all_hematologic(106;0.112)					TGAACTTGCCCGCCAGTTGAA	0.403000													7	254					0	0	1	0	0
ANO5	203859	broad.mit.edu	37	11	22296150	22296150	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:22296150C>A	uc001mqi.2	+	19	2588	c.2271C>A	c.(2269-2271)ccC>ccA	p.P757P	ANO5_uc001mqj.2_Silent_p.P756P	NM_213599	NP_998764	Q75V66	ANO5_HUMAN	Homo sapiens anoctamin 5 (ANO5), transcript variant 1, mRNA.	757						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ACATCATTCCCCGTCTAGTTT	0.358000													8	255					0	0	1	0	0
ZNF438	220929	broad.mit.edu	37	10	31137869	31137869	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:31137869G>T	uc010qdz.2	-	6	1900	c.1465C>A	c.(1465-1467)Cct>Act	p.P489T	ZNF438_uc001ivn.3_Missense_Mutation_p.P440T|ZNF438_uc010qdy.2_Missense_Mutation_p.P479T|ZNF438_uc001ivo.4_Missense_Mutation_p.P53T|ZNF438_uc009xlg.3_Missense_Mutation_p.P489T|ZNF438_uc001ivp.4_Missense_Mutation_p.P479T|ZNF438_uc010qea.2_Missense_Mutation_p.P489T|ZNF438_uc010qeb.2_Missense_Mutation_p.P489T|ZNF438_uc010qec.1_Missense_Mutation_p.P53T	NM_182755	NP_001137241	Q7Z4V0	ZN438_HUMAN	Homo sapiens zinc finger protein 438 (ZNF438), transcript variant 2, mRNA.	489					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				CTGGGCTTAGGGGAAGAGCTG	0.473000													9	260					0	0	1	0	0
WDR41	55255	broad.mit.edu	37	5	76734163	76734163	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:76734163C>A	uc003kff.1	-	9	1193	c.906G>T	c.(904-906)agG>agT	p.R302S	WDR41_uc011csy.1_Missense_Mutation_p.R244S|WDR41_uc011csz.1_Missense_Mutation_p.R247S|WDR41_uc011cta.1_Non-coding_Transcript	NM_018268	NP_060738	Q9HAD4	WDR41_HUMAN	Homo sapiens WD repeat domain 41 (WDR41), mRNA.	302										NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)	14		all_lung(232;0.000961)|Lung NSC(167;0.0011)|Ovarian(174;0.0105)|Prostate(461;0.059)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-50)|Epithelial(54;2.04e-44)|all cancers(79;6.84e-40)		CGTATAAACCCCTTCCAACTG	0.458000													8	207					0	0	1	0	0
POLE	5426	broad.mit.edu	37	12	133233834	133233834	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:133233834G>T	uc001uks.1	-	28	3514	c.3470C>A	c.(3469-3471)cCa>cAa	p.P1157Q	POLE_uc001ukr.1_5'UTR|POLE_uc010tbq.1_Non-coding_Transcript|POLE_uc009zyu.1_Missense_Mutation_p.P1130Q	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	Homo sapiens polymerase (DNA directed), epsilon (POLE), mRNA.	1157					DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity|chromatin binding|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		ACGTGGCACTGGGTTCTTTAC	0.532000								DNA polymerases (catalytic subunits)					5	151					0	0	1	0	0
C14orf118	55668	broad.mit.edu	37	14	76633061	76633061	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr14:76633061G>T	uc001xsh.3	+	2	804	c.718G>T	c.(718-720)Ggg>Tgg	p.G240W	C14orf118_uc001xsi.3_Missense_Mutation_p.G240W|C14orf118_uc001xsj.1_Missense_Mutation_p.G240W|C14orf118_uc001xsk.1_Missense_Mutation_p.G240W|C14orf118_uc001xsl.3_Non-coding_Transcript	NM_017926	NP_060396	Q9NWQ4	CN118_HUMAN	Homo sapiens chromosome 14 open reading frame 118 (C14orf118), transcript variant 1, mRNA.	240										endometrium(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|skin(2)	16				BRCA - Breast invasive adenocarcinoma(234;0.0172)		CAATGATGAAGGGCGACAAGG	0.433000													4	59					0	0	1	0	0
NRXN2	9379	broad.mit.edu	37	11	64427831	64427831	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:64427831C>A	uc021qkw.1	-	10	2824	c.2362G>T	c.(2362-2364)Ggg>Tgg	p.G788W	NRXN2_uc021qkx.1_Missense_Mutation_p.G757W|NRXN2_uc001oas.3_Missense_Mutation_p.G757W|NRXN2_uc001oaq.3_Missense_Mutation_p.G455W	NM_015080	NP_055895	Q9P2S2	NRX2A_HUMAN	Homo sapiens neurexin 2 (NRXN2), transcript variant alpha-1, mRNA.	788	Laminin G-like 4.				cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						TTCATCTGCCCCCCATCCAGC	0.617000													5	115					0	0	1	0	0
ACTR3B	57180	broad.mit.edu	37	7	152522197	152522197	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr7:152522197C>A	uc003wle.1	+	8	1058	c.941C>A	c.(940-942)cCg>cAg	p.P314Q	ACTR3B_uc003wlf.1_Missense_Mutation_p.P314Q|ACTR3B_uc003wlg.1_Missense_Mutation_p.P226Q|ACTR3B_uc011kvp.1_Missense_Mutation_p.P226Q	NM_020445	NP_065178	Q9P1U1	ARP3B_HUMAN	Homo sapiens ARP3 actin-related protein 3 homolog B (yeast) (ACTR3B), transcript variant 1, mRNA.	314					regulation of actin filament polymerization	cell projection|cytoplasm|cytoskeleton	ATP binding|actin binding	p.P314Q(2)		breast(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	13		all_hematologic(28;0.0592)|Prostate(32;0.191)	OV - Ovarian serous cystadenocarcinoma(82;0.0287)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0434)		GTGCGGCGCCCGCTGTATAAG	0.418000													3	72					0	0	1	0	0
BC107568	0	broad.mit.edu	37	GL000195.1	138031	138031	+	RNA	SNP	G	G	C			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chrGL000195.1:138031G>C	uc003won.1	+	0		c.65G>C								Homo sapiens cDNA clone IMAGE:3683736.																		TTCGCCTCCTGCACCTTGGGA	0.602000													3	2					0	0	1	0	0
DNAJC10	54431	broad.mit.edu	37	2	183593382	183593382	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:183593382C>A	uc002uow.1	+	5	913	c.498C>A	c.(496-498)ccC>ccA	p.P166P	DNAJC10_uc002uox.1_Non-coding_Transcript|DNAJC10_uc002uoy.1_Non-coding_Transcript|DNAJC10_uc002uoz.1_Silent_p.P166P|DNAJC10_uc010fro.1_Non-coding_Transcript	NM_018981	NP_061854	Q8IXB1	DJC10_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 10 (DNAJC10), mRNA.	166	Thioredoxin 1.				ER-associated protein catabolic process|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding			breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			ATTTAGCTCCCACAGTATGTA	0.299000													6	238					0	0	1	0	0
DOCK9	23348	broad.mit.edu	37	13	99554604	99554604	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr13:99554604C>A	uc001vnt.2	-	11	1376	c.1321G>T	c.(1321-1323)Ggg>Tgg	p.G441W	DOCK9_uc001vnw.2_Missense_Mutation_p.G440W|DOCK9_uc021rlw.1_Missense_Mutation_p.G440W|DOCK9_uc001vnv.1_Non-coding_Transcript|DOCK9_uc010tir.1_Missense_Mutation_p.G441W|DOCK9_uc010tis.1_Missense_Mutation_p.G440W|DOCK9_uc010tit.1_Missense_Mutation_p.G441W|DOCK9_uc010afu.1_Missense_Mutation_p.G256W	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN	Homo sapiens dedicator of cytokinesis 9 (DOCK9), transcript variant 1, mRNA.	441					blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GGGCTCTGCCCACTGCCATTC	0.552000													4	62					0	0	1	0	0
BEST1	7439	broad.mit.edu	37	11	61730039	61730039	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:61730039C>A	uc001nsr.2	+	8	1805	c.1233C>A	c.(1231-1233)ccC>ccA	p.P411P	BEST1_uc010rlq.1_3'UTR|BEST1_uc010rlr.1_3'UTR|BEST1_uc010rls.1_Silent_p.P99P|BEST1_uc001nss.3_Silent_p.P471P|BEST1_uc009ynt.3_Non-coding_Transcript|BEST1_uc010rlt.2_Silent_p.P411P|BEST1_uc001nst.3_Silent_p.P384P|BEST1_uc010rlu.1_3'UTR|BEST1_uc010rlv.2_Silent_p.P365P	NM_001139443	NP_001132915	O76090	BEST1_HUMAN	Homo sapiens bestrophin 1 (BEST1), transcript variant 2, mRNA.	471					response to stimulus|transepithelial chloride transport|visual perception	basolateral plasma membrane|chloride channel complex|cytosol|membrane fraction	chloride channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|urinary_tract(2)	25						CACAGACGCCCCTCAGCCCCA	0.552000													5	84					0	0	1	0	0
ZC3H13	23091	broad.mit.edu	37	13	46543054	46543054	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr13:46543054G>T	uc010tfw.1	-	12	3631	c.3625C>A	c.(3625-3627)Cca>Aca	p.P1209T	ZC3H13_uc001vaq.2_5'Flank|ZC3H13_uc001vas.1_Missense_Mutation_p.P1209T|ZC3H13_uc001vat.1_Missense_Mutation_p.P1209T	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	Homo sapiens zinc finger CCCH-type containing 13 (ZC3H13), mRNA.	1209	Ser-rich.						nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		TCATTGGATGGGGAGCGAAGA	0.498000													7	211					0	0	1	0	0
SEMA4C	54910	broad.mit.edu	37	2	97531227	97531227	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:97531227C>A	uc002sxg.4	-	3	858	c.627G>T	c.(625-627)aaG>aaT	p.K209N	SEMA4C_uc002sxf.4_5'Flank|SEMA4C_uc002sxe.3_5'Flank|SEMA4C_uc002sxh.4_Missense_Mutation_p.K156N	NM_017789	NP_060259	Q9C0C4	SEM4C_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C (SEMA4C), mRNA.	156	Dominant negative effect on myogenic differentiation (By similarity).|Sema.				muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						GACACTTGCCCTTCCCATCTT	0.567000													6	96					0	0	1	0	0
TRIM10	10107	broad.mit.edu	37	6	30128473	30128473	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:30128473G>T	uc003npo.3	-	0	239	c.163C>A	c.(163-165)Cct>Act	p.P55T	TRIM10_uc003npn.2_Missense_Mutation_p.P55T|TRIM15_uc010jrx.3_5'Flank	NM_006778	NP_006769	Q9UDY6	TRI10_HUMAN	Homo sapiens tripartite motif containing 10 (TRIM10), transcript variant 1, mRNA.	55						cytoplasm	zinc ion binding			ovary(1)	1						GGGCAAGTAGGGGACTCCTCC	0.617000													9	318					0	0	1	0	0
FAM57A	79850	broad.mit.edu	37	17	644626	644626	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:644626C>A	uc002frp.3	+	4	631	c.590C>A	c.(589-591)cCc>cAc	p.P197H	FAM57A_uc002frq.3_Missense_Mutation_p.P165H|FAM57A_uc002frr.3_Missense_Mutation_p.P107H	NM_024792	NP_079068	Q8TBR7	FA57A_HUMAN	Homo sapiens family with sequence similarity 57, member A (FAM57A), mRNA.	197	TLC.					integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)|urinary_tract(2)	10				UCEC - Uterine corpus endometrioid carcinoma (25;0.0217)		CTTCTCTTCCCCTTCATGTAC	0.542000													5	139					0	0	1	0	0
GOT1L1	137362	broad.mit.edu	37	8	37793285	37793285	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr8:37793285G>T	uc011lbj.1	-	6	966	c.866C>A	c.(865-867)cCc>cAc	p.P289H		NM_152413	NP_689626	Q8NHS2	AATC2_HUMAN	Homo sapiens glutamic-oxaloacetic transaminase 1-like 1 (GOT1L1), mRNA.	289					biosynthetic process|cellular amino acid metabolic process	cytoplasm	pyridoxal phosphate binding|transaminase activity			central_nervous_system(1)|endometrium(3)|lung(8)|ovary(1)|prostate(1)	14	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)			CGTGTTGGGGGGGTTTAGCCA	0.602000													4	36					0	0	1	0	0
ATP1A1	476	broad.mit.edu	37	1	116932153	116932153	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:116932153C>A	uc001ege.3	+	7	1186	c.847C>A	c.(847-849)Ccc>Acc	p.P283T	ATP1A1_uc010owv.1_Missense_Mutation_p.P252T|ATP1A1_uc010oww.2_Missense_Mutation_p.P283T|ATP1A1_uc010owx.2_Missense_Mutation_p.P252T	NM_000701	NP_001153706	P05023	AT1A1_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 1 polypeptide (ATP1A1), transcript variant 1, mRNA.	283					ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)	AGGCCAGACCCCCATTGCTGC	0.493000													7	227					0	0	1	0	0
RGS10	6001	broad.mit.edu	37	10	121275092	121275092	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:121275092C>A	uc001lee.3	-	2	304	c.304G>T	c.(304-306)Ggg>Tgg	p.G102W	RGS10_uc001lef.3_Missense_Mutation_p.G96W|RGS10_uc001leg.3_Missense_Mutation_p.G110W	NM_002925	NP_002916	O43665	RGS10_HUMAN	Homo sapiens regulator of G-protein signaling 10 (RGS10), transcript variant 2, mRNA.	102	RGS.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|protein binding|signal transducer activity			breast(2)|large_intestine(1)|lung(3)	6		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.00105)|GBM - Glioblastoma multiforme(135;0.195)		CGAGACTGCCCCTCCACGTTG	0.552000													4	69					0	0	1	0	0
ZNF644	84146	broad.mit.edu	37	1	91405265	91405265	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:91405265C>A	uc001dnw.3	-	2	1929	c.1646G>T	c.(1645-1647)gGg>gTg	p.G549V	ZNF644_uc001dnv.3_Intron|ZNF644_uc001dnx.3_Intron|ZNF644_uc001dny.2_Missense_Mutation_p.G549V	NM_201269	NP_958357	Q9H582	ZN644_HUMAN	Homo sapiens zinc finger protein 644 (ZNF644), transcript variant 1, mRNA.	549					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TACCACTGCCCCATGTGCAAT	0.393000													7	258					0	0	1	0	0
MLL2	8085	broad.mit.edu	37	19	36216191	36216191	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:36216191C>A	uc021usv.1	+	10	3599	c.3599C>A	c.(3598-3600)cCc>cAc	p.P1200H	MLL2_uc021usu.1_Missense_Mutation_p.P14H	NM_014727	NP_055542	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.	0					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						CCAGGGGGCCCCCCGATGGTG	0.597000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)			4	50					0	0	1	0	0
RPE65	6121	broad.mit.edu	37	1	68906685	68906685	+	Splice_Site	SNP	T	T	C			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:68906685T>C	uc001dei.1	-	6	550	c.496_splice	c.e6-1	p.V166_splice		NM_000329	NP_000320	Q16518	RPE65_HUMAN	Homo sapiens retinal pigment epithelium-specific protein 65kDa (RPE65), mRNA.	166					visual perception	cytoplasm|plasma membrane	all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity	p.?(1)		central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						AAGATCAACCTACGGAAGTAA	0.428000													4	79					0	0	1	0	0
ZHX2	22882	broad.mit.edu	37	8	123964946	123964946	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr8:123964946G>T	uc022bag.1	+	0	1196	c.1196G>T	c.(1195-1197)gGa>gTa	p.G399V	ZHX2_uc003ypk.1_Missense_Mutation_p.G399V	NM_014943	NP_055758	Q9Y6X8	ZHX2_HUMAN	Homo sapiens zinc fingers and homeoboxes 2 (ZHX2), mRNA.	399	Required for interaction with NFYA.|Required for nuclear localization.|Required for repressor activity.					cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G399V(2)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			GCCGTGGCAGGAGTCACCAAC	0.627000													25	57					0	0	1	0	0
DDX11L10	100287029	broad.mit.edu	37	16	62983	62983	+	RNA	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr16:62983G>T	uc010bqm.2	+	2		c.545G>T								Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 like 10 (DDX11L10), non-coding RNA.																		GTCCTGGACAGGCTGTTGGCC	0.562000													3	3					0	0	1	0	0
CD3EAP	10849	broad.mit.edu	37	19	45911704	45911704	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:45911704G>T	uc002pbr.1	+	2	490	c.484G>T	c.(484-486)Ggg>Tgg	p.G162W	PPP1R13L_uc002pbo.3_5'Flank|PPP1R13L_uc002pbp.2_5'Flank|CD3EAP_uc002pbq.1_Missense_Mutation_p.G160W|ERCC1_uc002pbt.2_3'UTR|ERCC1_uc002pbs.2_3'UTR|ERCC1_uc002pbu.2_3'UTR	NM_012099	NP_036231	O15446	RPA34_HUMAN	Homo sapiens CD3e molecule, epsilon associated protein (CD3EAP), mRNA.	160					rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway	RNA polymerase I transcription factor complex|chromosome	DNA-directed RNA polymerase activity			breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0251)		ACCAGTCACAGGGCCTAGGTC	0.622000													5	99					0	0	1	0	0
ADARB1	104	broad.mit.edu	37	21	46642109	46642109	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr21:46642109C>A	uc002zgy.2	+	11	2658	c.2223C>A	c.(2221-2223)ccC>ccA	p.P741P	ADARB1_uc002zgs.2_Non-coding_Transcript|ADARB1_uc002zgw.2_Intron|ADARB1_uc002zgv.2_Non-coding_Transcript|ADARB1_uc002zgt.2_Silent_p.P701P|ADARB1_uc010gpx.2_Non-coding_Transcript|ADARB1_uc002zgr.2_Intron|ADARB1_uc002zgq.2_Non-coding_Transcript|ADARB1_uc002zgu.2_Non-coding_Transcript	NM_015833	NP_056648	P78563	RED1_HUMAN	Homo sapiens adenosine deaminase, RNA-specific, B1 (ADARB1), transcript variant 2, mRNA.	741					RNA processing|adenosine to inosine editing|mRNA modification|mRNA processing	nucleoplasm|nucleus	RNA binding|double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|mRNA binding|metal ion binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1)	17				Colorectal(79;0.115)		CACTCACGCCCTGACCCGGGC	0.652000													4	27					0	0	1	0	0
GOLGA1	2800	broad.mit.edu	37	9	127652687	127652687	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:127652687C>A	uc004bpc.3	-	15	1820	c.1478G>T	c.(1477-1479)aGg>aTg	p.R493M	GOLGA1_uc010mws.3_Non-coding_Transcript	NM_002077	NP_002068	Q92805	GOGA1_HUMAN	Homo sapiens golgin A1 (GOLGA1), mRNA.	493	Gln-rich.					Golgi cisterna membrane		p.R493G(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						GAACTCTTCCCTTTGCTTCCG	0.582000													7	145					0	0	1	0	0
FAM134A	79137	broad.mit.edu	37	2	220047109	220047109	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:220047109C>A	uc002vjw.4	+	8	1526	c.1390C>A	c.(1390-1392)Cct>Act	p.P464T	FAM134A_uc010fwc.3_Missense_Mutation_p.P257T|FAM134A_uc002vjx.3_Intron	NM_024293	NP_077269	Q8NC44	F134A_HUMAN	Homo sapiens family with sequence similarity 134, member A (FAM134A), mRNA.	464						endoplasmic reticulum|integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	19		Renal(207;0.0915)		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGCCCCCTCCCCTTCCATTCT	0.617000													6	138					0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8518276	8518276	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:8518276C>A	uc003zkk.3	-	20	1858	c.1115G>T	c.(1114-1116)gGg>gTg	p.G372V	PTPRD_uc003zkp.3_Missense_Mutation_p.G372V|PTPRD_uc003zkq.3_Missense_Mutation_p.G372V|PTPRD_uc003zkr.3_Missense_Mutation_p.G366V|PTPRD_uc003zks.3_Missense_Mutation_p.G362V|PTPRD_uc022bdj.1_Missense_Mutation_p.G369V	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	372	Fibronectin type-III 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.D371N(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GGTCGCCACCCCATCAATTTC	0.478000										TSP Lung(15;0.13)			8	252					0	0	1	0	0
CTAGE9	643854	broad.mit.edu	37	6	132030025	132030025	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:132030025C>A	uc011ece.2	-	0	2133	c.2133G>T	c.(2131-2133)agG>agT	p.R711S	ENPP3_uc003qcu.4_Intron|ENPP3_uc003qcv.3_Intron|ENPP3_uc010kfq.3_Intron	NM_001145659	NP_001139131	A4FU28	CTGE9_HUMAN	Homo sapiens CTAGE family, member 9 (CTAGE9), mRNA.	711	Pro-rich.					integral to membrane				endometrium(1)|lung(1)	2						TGAATGGGCCCCTTGTATCCA	0.522000													8	288					0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106815538	106815538	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr8:106815538C>A	uc003ymd.3	+	7	3251	c.3228C>A	c.(3226-3228)ccC>ccA	p.P1076P	ZFPM2_uc011lhs.2_Silent_p.P807P	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	1076					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			ACAAATCTCCCTCGTGGATCT	0.478000													4	74					0	0	1	0	0
PTGFRN	5738	broad.mit.edu	37	1	117529548	117529548	+	Missense_Mutation	SNP	C	C	T	rs140355100		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:117529548C>T	uc001egv.1	+	8	2736	c.2599C>T	c.(2599-2601)Cgg>Tgg	p.R867W		NM_020440	NP_065173	Q9P2B2	FPRP_HUMAN	Homo sapiens prostaglandin F2 receptor negative regulator (PTGFRN), mRNA.	867						Golgi apparatus|endoplasmic reticulum membrane|integral to membrane	protein binding	p.R867W(2)		NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		TCAGGAGACACGGCGCGAGCG	0.617000													56	108					0	0	1	0	0
PAPLN	89932	broad.mit.edu	37	14	73731013	73731013	+	Missense_Mutation	SNP	G	G	A	rs145618706		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr14:73731013G>A	uc010ttx.2	+	19	3119	c.2956G>A	c.(2956-2958)Gac>Aac	p.D986N	PAPLN_uc001xnw.4_Missense_Mutation_p.D959N|PAPLN_uc010arl.3_Non-coding_Transcript|PAPLN_uc010ttw.2_Non-coding_Transcript|PAPLN_uc010tty.2_Missense_Mutation_p.D970N|PAPLN_uc010arm.3_Missense_Mutation_p.D185N|PAPLN_uc010arn.3_Missense_Mutation_p.D186N	NM_173462	NP_775733	O95428	PPN_HUMAN	Homo sapiens papilin, proteoglycan-like sulfated glycoprotein (PAPLN), mRNA.	986	Ig-like C2-type 1.					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding	p.D986N(1)|p.D959N(1)		NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		GCCAGGCCGCGACTCCCAGAA	0.647000													16	38					0	0	1	0	0
PLD3	23646	broad.mit.edu	37	19	40880402	40880402	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:40880402C>A	uc002onm.4	+	9	1292	c.894C>A	c.(892-894)ccC>ccA	p.P298P	PLD3_uc002onj.4_Silent_p.P298P|PLD3_uc002onn.3_Silent_p.P298P	NM_001031696	NP_036400	Q8IV08	PLD3_HUMAN	Homo sapiens phospholipase D family, member 3 (PLD3), transcript variant 1, mRNA.	298					lipid catabolic process	endoplasmic reticulum membrane|integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20			Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)			CGCCCCCACCCCTGTGTCCAA	0.597000													5	151					0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30704174	30704174	+	Missense_Mutation	SNP	G	G	T	rs144577500	byFrequency	TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr8:30704174G>T	uc003xil.3	-	0	2360	c.2360C>A	c.(2359-2361)cCg>cAg	p.P787Q		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	787								p.P787L(2)		NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		GTCAGCTGTCGGGCTGAATCC	0.358000													5	107					0	0	1	0	0
DICER1	23405	broad.mit.edu	37	14	95557424	95557424	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr14:95557424G>T	uc001ydw.2	-	26	5762	c.5550C>A	c.(5548-5550)ccC>ccA	p.P1850P	DICER1_uc010avh.1_Silent_p.P748P|DICER1_uc021sbc.1_Missense_Mutation_p.P1796H|DICER1_uc001ydv.2_Silent_p.P1840P|DICER1_uc001ydx.2_Silent_p.P1850P	NM_030621	NP_803187	Q9UPY3	DICER_HUMAN	Homo sapiens dicer 1, ribonuclease type III (DICER1), transcript variant 2, mRNA.	1850	DRBM.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of Schwann cell differentiation|positive regulation of myelination|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	RNA-induced silencing complex|cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		CAGGGGAACGGGGTACATTTG	0.303000			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				5	138					0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12313858	12313858	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:12313858G>T	uc001atv.3	+	6	785	c.644G>T	c.(643-645)gGg>gTg	p.G215V	VPS13D_uc001atw.3_Missense_Mutation_p.G215V	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	215					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		ACTTTACTGGGGGATTTGCCT	0.473000													7	205					0	0	1	0	0
TGFBR1	7046	broad.mit.edu	37	9	101900330	101900330	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:101900330G>T	uc004azc.3	+	3	840	c.764G>T	c.(763-765)cGt>cTt	p.R255L	TGFBR1_uc004azd.3_Missense_Mutation_p.R178L|TGFBR1_uc004aze.3_Missense_Mutation_p.R259L|TGFBR1_uc011lvc.2_Missense_Mutation_p.R186L	NM_004612	NP_004603	P36897	TGFR1_HUMAN	Homo sapiens transforming growth factor, beta receptor 1 (TGFBR1), transcript variant 1, mRNA.	255	Protein kinase.				activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of SMAD protein import into nucleus|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway		ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding	p.R255L(2)|p.R255C(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27		Acute lymphoblastic leukemia(62;0.0559)				GTAATGTTACGTCATGAAAAC	0.378000													55	132					0	0	1	0	0
TPR	7175	broad.mit.edu	37	1	186289546	186289546	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:186289546G>A	uc001grv.3	-	45	6763	c.6466C>T	c.(6466-6468)Ccg>Tcg	p.P2156S	MIR548F1_uc021pgf.1_Intron	NM_003292	NP_003283	P12270	TPR_HUMAN	Homo sapiens translocated promoter region (to activated MET oncogene) (TPR), mRNA.	2156					carbohydrate metabolic process|glucose transport|mRNA transport|mitotic cell cycle spindle assembly checkpoint|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity	p.P2156S(2)|p.P2143S(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		GCAACCTGCGGCGAACTAAAT	0.398000			T	NTRK1	papillary thyroid								14	63					0	0	1	0	0
SPRED3	399473	broad.mit.edu	37	19	38881008	38881008	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:38881008G>T	uc002oim.3	+	0	70	c.66G>T	c.(64-66)ggG>ggT	p.G22G	GGN_uc002oij.1_5'Flank|GGN_uc002oik.1_5'Flank|GGN_uc010efy.1_5'Flank|SPRED3_uc002oil.1_Silent_p.G22G	NM_001042522	NP_001035987	Q2MJR0	SPRE3_HUMAN	Homo sapiens sprouty-related, EVH1 domain containing 3 (SPRED3), transcript variant 1, mRNA.	22	WH1.				multicellular organismal development					central_nervous_system(2)|large_intestine(1)|lung(5)|skin(1)	9	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TGCCTGTGGGGGGCGGGGGCC	0.716000													4	45					0	0	1	0	0
SGK223	157285	broad.mit.edu	37	8	8185557	8185557	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr8:8185557C>A	uc003wsh.4	-	3	2735	c.2735G>T	c.(2734-2736)gGg>gTg	p.G912V		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	Homo sapiens homolog of rat pragma of Rnd2 (SGK223), mRNA.	912							ATP binding|non-membrane spanning protein tyrosine kinase activity										GGAGGGGGCCCCTTTGCACTG	0.662000													4	51					0	0	1	0	0
TMC5	79838	broad.mit.edu	37	16	19483470	19483470	+	Missense_Mutation	SNP	C	C	A	rs142693954		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr16:19483470C>A	uc002dgc.4	+	10	2592	c.1843C>A	c.(1843-1845)Cgc>Agc	p.R615S	TMC5_uc010vaq.2_Intron|TMC5_uc002dgb.4_Missense_Mutation_p.R615S|TMC5_uc010var.2_Missense_Mutation_p.R615S|TMC5_uc002dgd.1_Missense_Mutation_p.R369S|TMC5_uc002dge.4_Missense_Mutation_p.R369S|TMC5_uc002dgf.4_Missense_Mutation_p.R298S|TMC5_uc002dgg.4_Missense_Mutation_p.R256S	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA.	615						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GCTGCTGACCCGCTTCTCTGC	0.498000													7	254					0	0	1	0	0
ARID5B	84159	broad.mit.edu	37	10	63845636	63845636	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:63845636C>A	uc001jlt.2	+	8	1831	c.1375C>A	c.(1375-1377)Cca>Aca	p.P459T	ARID5B_uc001jlu.2_Missense_Mutation_p.P216T	NM_032199	NP_115575	Q14865	ARI5B_HUMAN	Homo sapiens AT rich interactive domain 5B (MRF1-like) (ARID5B), transcript variant 1, mRNA.	459					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					AGAAAATGCCCCAAAGCCCCA	0.448000													7	231					0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82833038	82833038	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:82833038C>A	uc003kii.3	+	7	4572	c.4216C>A	c.(4216-4218)Cca>Aca	p.P1406T	VCAN_uc003kij.3_Missense_Mutation_p.P419T|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.P70T	NM_004385	NP_004376	P13611	CSPG2_HUMAN	Homo sapiens versican (VCAN), transcript variant 1, mRNA.	1406	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		GACAACCACCCCATCTGTGCA	0.458000													4	74					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39768669	39768669	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:39768669C>A	uc021olt.1	+	21	2775	c.2723C>A	c.(2722-2724)cCc>cAc	p.P908H	MACF1_uc021ols.1_Missense_Mutation_p.P908H|MACF1_uc001cdc.2_Missense_Mutation_p.P908H|MACF1_uc001cda.1_Missense_Mutation_p.P816H|MACF1_uc009vvq.1_Intron|MACF1_uc001cdb.1_5'UTR	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	908	SH3.				Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GTGATCAGCCCCACAGGGAAC	0.473000													5	86					0	0	1	0	0
CLEC5A	23601	broad.mit.edu	37	7	141635653	141635653	+	Silent	SNP	T	T	C			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr7:141635653T>C	uc003vwv.1	-	4	503	c.306A>G	c.(304-306)aaA>aaG	p.K102K	CLEC5A_uc011krm.1_Silent_p.K79K|CLEC5A_uc003vww.1_Silent_p.K102K|CLEC5A_uc010lnq.1_Silent_p.K79K|CLEC5A_uc010lnr.1_Intron	NM_013252	NP_037384	Q9NY25	CLC5A_HUMAN	Homo sapiens C-type lectin domain family 5, member A (CLEC5A), mRNA.	102	C-type lectin.				anti-apoptosis|cellular defense response|innate immune response|interspecies interaction between organisms|osteoblast development	cell surface|integral to plasma membrane	sugar binding|viral receptor activity	p.K102K(2)		endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	10	Melanoma(164;0.0171)					ATGTGGATCCTTTTCCTTTGC	0.448000													43	168					0	0	1	0	0
TICAM1	148022	broad.mit.edu	37	19	4816548	4816548	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:4816548G>T	uc002mbi.3	-	1	2093	c.1842C>A	c.(1840-1842)ccC>ccA	p.P614P	TICAM1_uc021unj.1_Silent_p.P614P	NM_182919	NP_891549	Q8IUC6	TCAM1_HUMAN	Homo sapiens toll-like receptor adaptor molecule 1 (TICAM1), mRNA.	614	Pro-rich.|Sufficient to induce apoptosis.				I-kappaB kinase/NF-kappaB cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|apoptosis|inflammatory response|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein kinase binding|signal transducer activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		GGGCTCCCAGGGGCACCTGGC	0.701000													4	34					0	0	1	0	0
KRT24	192666	broad.mit.edu	37	17	38859679	38859679	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:38859679C>A	uc002hvd.3	-	0	324	c.267G>T	c.(265-267)ggG>ggT	p.G89G		NM_019016	NP_061889	Q2M2I5	K1C24_HUMAN	Homo sapiens keratin 24 (KRT24), mRNA.	89	Gly-rich.|Head.					cytoplasm|intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				AGCTAGAACCCCCACCAAATC	0.567000													5	119					0	0	1	0	0
TRIM52	84851	broad.mit.edu	37	5	180687287	180687287	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:180687287G>T	uc003mnp.3	-	0	833	c.528C>A	c.(526-528)ccC>ccA	p.P176P	BC016291_uc003mnq.3_5'Flank	NM_032765	NP_116154	Q96A61	TRI52_HUMAN	Homo sapiens tripartite motif containing 52 (TRIM52), mRNA.	176						intracellular	zinc ion binding			endometrium(1)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	8	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.0106)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0588)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.232)		GCCCTGGAAGGGGCAAGGAAG	0.527000													8	259					0	0	1	0	0
TUBGCP6	85378	broad.mit.edu	37	22	50659325	50659325	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr22:50659325G>T	uc003bkb.1	-	15	3975	c.3463C>A	c.(3463-3465)Cgg>Agg	p.R1155R	TUBGCP6_uc003bka.1_Silent_p.R242R|TUBGCP6_uc010har.1_Silent_p.R1147R|TUBGCP6_uc010has.1_Non-coding_Transcript	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN	Homo sapiens tubulin, gamma complex associated protein 6 (TUBGCP6), mRNA.	1155	9 X 27 AA tandem repeats.				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding	p.T1154A(1)		breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CACCGTGGCCGGGTGGGAGCC	0.652000													4	126					0	0	1	0	0
VRK1	7443	broad.mit.edu	37	14	97321634	97321634	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr14:97321634C>A	uc001yft.3	+	7	756	c.650C>A	c.(649-651)cCc>cAc	p.P217H		NM_003384	NP_003375	Q99986	VRK1_HUMAN	Homo sapiens vaccinia related kinase 1 (VRK1), mRNA.	217	Protein kinase.					cytoplasm|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(1)|stomach(1)	12		Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.234)		AAAGAAGACCCCAAAAGATGT	0.423000													7	236					0	0	1	0	0
TRPC5	7224	broad.mit.edu	37	X	111025269	111025269	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chrX:111025269G>T	uc004epl.1	-	7	2913	c.1994C>A	c.(1993-1995)cCc>cAc	p.P665H	TRPC5_uc004epm.1_Missense_Mutation_p.P665H	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 5 (TRPC5), mRNA.	665					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CTTGGGGCTGGGGATGATGTT	0.488000													5	148					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2830703	2830703	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr8:2830703C>A	uc022aqr.1	-	56	9249	c.8859G>T	c.(8857-8859)agG>agT	p.R2953S	CSMD1_uc011kwj.2_Missense_Mutation_p.R2283S|CSMD1_uc010lrg.3_Missense_Mutation_p.R964S	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	2954	Sushi 22.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CAGGGGAGCCCCTCAGCTGGT	0.567000													5	112					0	0	1	0	0
ST3GAL3	6487	broad.mit.edu	37	1	44386558	44386558	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:44386558C>A	uc001ckb.3	+	11	1380	c.1203C>A	c.(1201-1203)ccC>ccA	p.P401P	ST3GAL3_uc001cjz.3_Silent_p.P347P|ST3GAL3_uc001cka.3_Intron|ST3GAL3_uc001ckc.3_Silent_p.P332P|ST3GAL3_uc001ckd.3_Silent_p.P386P|ST3GAL3_uc001cke.3_Silent_p.P316P|ST3GAL3_uc001ckf.3_Silent_p.P370P|ST3GAL3_uc001ckg.3_Intron|ST3GAL3_uc001ckh.3_Intron|ST3GAL3_uc001cki.3_Intron|ST3GAL3_uc009vwx.3_Intron|ST3GAL3_uc009vwz.3_Silent_p.P106P|ST3GAL3_uc001ckm.3_Intron|ST3GAL3_uc001ckn.3_Intron|ST3GAL3_uc001cko.3_Intron|ST3GAL3_uc001ckp.3_Intron|ST3GAL3_uc009vxa.3_Silent_p.P119P|ST3GAL3_uc001ckq.3_Intron|ST3GAL3_uc001ckr.3_Intron|ST3GAL3_uc009vxb.3_Intron|ST3GAL3_uc009vwv.3_Silent_p.P302P|ST3GAL3_uc001ckj.3_Non-coding_Transcript|ST3GAL3_uc009vww.3_Non-coding_Transcript|ST3GAL3_uc001ckk.3_Silent_p.P301P|ST3GAL3_uc009vwy.3_Silent_p.P238P|ST3GAL3_uc001ckl.3_Intron	NM_174963	NP_777623	Q11203	SIAT6_HUMAN	Homo sapiens ST3 beta-galactoside alpha-2,3-sialyltransferase 3 (ST3GAL3), transcript variant 1, mRNA.	332					protein glycosylation	Golgi cisterna membrane|extracellular region|integral to Golgi membrane	N-acetyllactosaminide alpha-2,3-sialyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(3)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0518)				CCAACGCACCCCTGCACTACT	0.587000													4	43					0	0	1	0	0
NUCB1	4924	broad.mit.edu	37	19	49425669	49425669	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:49425669C>A	uc002plb.4	+	12	1708	c.1374C>A	c.(1372-1374)ccC>ccA	p.P458P	NUCB1_uc002pld.3_Silent_p.P121P	NM_006184	NP_006175	Q02818	NUCB1_HUMAN	Homo sapiens nucleobindin 1 (NUCB1), mRNA.	458						ER-Golgi intermediate compartment|Golgi apparatus|extracellular space|membrane|microtubule cytoskeleton	DNA binding|calcium ion binding			cervix(1)|endometrium(4)|large_intestine(4)|lung(8)	17		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)		TTGAGGTGCCCCAGCATCTGT	0.597000													5	81					0	0	1	0	0
KRTAP11-1	337880	broad.mit.edu	37	21	32253560	32253560	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr21:32253560G>T	uc002yov.3	-	0	315	c.284C>A	c.(283-285)cCc>cAc	p.P95H		NM_175858	NP_787054	Q8IUC1	KR111_HUMAN	Homo sapiens keratin associated protein 11-1 (KRTAP11-1), mRNA.	95						keratin filament	structural molecule activity	p.P95H(2)		breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1)	18						AGTTGAGCAGGGGTTGGAAAT	0.572000													4	71					0	0	1	0	0
SIN3B	23309	broad.mit.edu	37	19	16973789	16973789	+	Splice_Site	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:16973789G>T	uc002ney.2	+	10	1385	c.1362_splice	c.e10+1	p.G454_splice	SIN3B_uc002nez.2_Intron|SIN3B_uc010xpi.1_5'Flank	NM_015260	NP_056075	O75182	SIN3B_HUMAN	Homo sapiens SIN3 transcription regulator homolog B (yeast) (SIN3B), mRNA.	454	Interaction with NCOR1 (By similarity).|Interaction with SDS3 and HDAC1 (By similarity).				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						TATAGTGcaggggtcagcaaa	0.493000													8	290					0	0	1	0	0
GRHL2	79977	broad.mit.edu	37	8	102570793	102570793	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr8:102570793C>A	uc010mbu.3	+	3	761	c.431C>A	c.(430-432)cCc>cAc	p.P144H	GRHL2_uc011lhi.1_Missense_Mutation_p.P144H	NM_024915	NP_079191	Q6ISB3	GRHL2_HUMAN	Homo sapiens grainyhead-like 2 (Drosophila) (GRHL2), mRNA.	144						cytoplasm|nucleus	DNA binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			ATCAGCTTCCCCGAGAGCTCT	0.522000													7	299					0	0	1	0	0
LTF	4057	broad.mit.edu	37	3	46492139	46492139	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:46492139C>A	uc003cpq.3	-	6	969	c.728G>T	c.(727-729)aGg>aTg	p.R243M	LTF_uc003fzr.3_Missense_Mutation_p.R199M|LTF_uc010hjh.3_Missense_Mutation_p.R243M|LTF_uc003cpr.3_Missense_Mutation_p.R230M	NM_002343	NP_001186078	P02788	TRFL_HUMAN	Homo sapiens lactotransferrin (LTF), transcript variant 1, mRNA.	243	Transferrin-like 1.				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	Pefloxacin(DB00487)	ATACTCGTCCCTTTCAGCCTC	0.557000													6	168					0	0	1	0	0
PPP2R3B	28227	broad.mit.edu	37	X	307979	307979	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chrX:307979G>T	uc004cpg.3	-	3	971	c.707C>A	c.(706-708)cCc>cAc	p.P236H	PPP2R3B_uc011mha.2_Missense_Mutation_p.P75H	NM_013239	NP_037371	Q9Y5P8	P2R3B_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B'', beta (PPP2R3B), mRNA.	236					cell cycle arrest|protein dephosphorylation	nucleus|protein phosphatase type 2A complex	calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity			endometrium(5)|lung(5)|skin(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CTGCAAGAAGGGGACAAAGTC	0.617000													5	139					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168099319	168099319	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:168099319C>A	uc002udx.3	+	8	1506	c.1417C>A	c.(1417-1419)Cct>Act	p.P473T	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.P298T|XIRP2_uc010fpq.3_Missense_Mutation_p.P251T|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	298					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TTCCCAGTCCCCTGAACTGCC	0.408000													7	180					0	0	1	0	0
PRKD2	25865	broad.mit.edu	37	19	47193933	47193933	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:47193933G>T	uc002pfh.3	-	13	2075	c.1733C>A	c.(1732-1734)gCa>gAa	p.A578E	PRKD2_uc010eks.3_5'UTR|PRKD2_uc010ekt.3_5'UTR|PRKD2_uc002pfg.3_Missense_Mutation_p.A421E|PRKD2_uc002pfi.3_Missense_Mutation_p.A578E|PRKD2_uc002pfj.3_Missense_Mutation_p.A578E|PRKD2_uc010xye.2_Missense_Mutation_p.A578E|PRKD2_uc002pfk.3_Missense_Mutation_p.A421E	NM_001079881	NP_001073351	Q9BZL6	KPCD2_HUMAN	Homo sapiens protein kinase D2 (PRKD2), transcript variant 3, mRNA.	578	Protein kinase.				T cell receptor signaling pathway|cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity	p.A578E(5)		central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		GACCTTAACTGCCACGTCCCG	0.572000													7	122					0	0	1	0	0
KIAA0355	9710	broad.mit.edu	37	19	34832949	34832949	+	Missense_Mutation	SNP	C	C	A	rs142267455		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:34832949C>A	uc002nvd.4	+	9	2969	c.2110C>A	c.(2110-2112)Cag>Aag	p.Q704K		NM_014686	NP_055501	O15063	K0355_HUMAN	Homo sapiens KIAA0355 (KIAA0355), mRNA.	704										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					ACGGGCACCCCAGGCTGGGGC	0.612000													6	106					0	0	1	0	0
TRIM49	57093	broad.mit.edu	37	11	89531568	89531568	+	Silent	SNP	T	T	C	rs139075721	by1000genomes	TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:89531568T>C	uc001pdb.3	-	7	1418	c.1089A>G	c.(1087-1089)aaA>aaG	p.K363K		NM_020358	NP_065091	P0CI25	TRI49_HUMAN	Homo sapiens tripartite motif containing 49 (TRIM49), mRNA.	363	B30.2/SPRY.					intracellular	zinc ion binding	p.K363K(6)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(14)|prostate(1)|skin(2)|stomach(1)	27		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				GATTCTTCTCTTTCCGATACA	0.458000													6	225					0	0	1	0	0
MPDZ	8777	broad.mit.edu	37	9	13121829	13121829	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:13121829G>T	uc010mia.1	-	36	5197	c.5140C>A	c.(5140-5142)Cca>Aca	p.P1714T	MPDZ_uc003zkx.4_5'Flank|MPDZ_uc003zky.4_Missense_Mutation_p.P248T|MPDZ_uc010mib.3_Missense_Mutation_p.P419T|MPDZ_uc010mhx.3_Missense_Mutation_p.P536T|MPDZ_uc011lmm.2_Missense_Mutation_p.P573T|MPDZ_uc003zkz.4_Missense_Mutation_p.P407T|MPDZ_uc010mhz.3_Missense_Mutation_p.P1681T|MPDZ_uc011lmn.2_Missense_Mutation_p.P1681T|MPDZ_uc010mhy.3_Missense_Mutation_p.P1714T|MPDZ_uc003zlb.4_Missense_Mutation_p.P1714T	NM_003829	NP_003820	O75970	MPDZ_HUMAN	Homo sapiens multiple PDZ domain protein (MPDZ), mRNA.	1714					interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		TCTTTGTATGGGGCCTCATCT	0.478000													5	102					0	0	1	0	0
TMEM201	199953	broad.mit.edu	37	1	9661280	9661280	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:9661280C>A	uc021ofy.1	+	4	781	c.724C>A	c.(724-726)Cca>Aca	p.P242T	TMEM201_uc001apy.3_Missense_Mutation_p.P242T|TMEM201_uc021ofz.1_Missense_Mutation_p.P83T	NM_001130924	NP_001124396	Q5SNT2	TM201_HUMAN	Homo sapiens transmembrane protein 201 (TMEM201), transcript variant 1, mRNA.	242						integral to membrane|nuclear inner membrane				lung(3)|upper_aerodigestive_tract(1)	4	all_lung(157;0.222)	all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|STAD - Stomach adenocarcinoma(132;0.00345)|READ - Rectum adenocarcinoma(331;0.0419)		ACACTTCGCCCCAGGCACCAC	0.687000													5	73					0	0	1	0	0
DLG4	1742	broad.mit.edu	37	17	7106238	7106238	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:7106238G>T	uc010vtn.2	-	6	851	c.591C>A	c.(589-591)ccC>ccA	p.P197P	DLG4_uc010vtm.2_Non-coding_Transcript|DLG4_uc010cly.3_Silent_p.P254P|DLG4_uc002get.4_Silent_p.P300P|DLG4_uc010vto.2_Silent_p.P297P|DLG4_uc002geu.3_Silent_p.P254P	NM_001128827	NP_001122299	P78352	DLG4_HUMAN	Homo sapiens discs, large homolog 4 (Drosophila) (DLG4), transcript variant 2, mRNA.	257	PDZ 2.				axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein C-terminus binding|protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18						TGATGTCTGGGGGAGCATAGC	0.527000													5	87					0	0	1	0	0
FAM47B	170062	broad.mit.edu	37	X	34962549	34962549	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chrX:34962549C>T	uc004ddi.2	+	0	1637	c.1601C>T	c.(1600-1602)gCg>gTg	p.A534V		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	Homo sapiens family with sequence similarity 47, member B (FAM47B), mRNA.	534								p.A534V(3)		breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						AGACGCCGGGCGGCACCGCAT	0.502000													16	57					0	0	1	0	0
ABCA4	24	broad.mit.edu	37	1	94514475	94514475	+	Missense_Mutation	SNP	C	C	T	rs61749441	byFrequency	TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:94514475C>T	uc001dqh.3	-	17	2796	c.2692G>A	c.(2692-2694)Gag>Aag	p.E898K	ABCA4_uc010otn.1_Missense_Mutation_p.E824K	NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	898					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.E898K(2)		NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GTTAGGGGCTCGGTCTTTTCC	0.517000													14	171					0	0	1	0	0
XPNPEP1	7511	broad.mit.edu	37	10	111633142	111633142	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:111633142G>T	uc001kyp.2	-	15	1555	c.1435C>A	c.(1435-1437)Cct>Act	p.P479T	XPNPEP1_uc009xxt.2_Missense_Mutation_p.P455T|XPNPEP1_uc001kyq.2_Missense_Mutation_p.P365T	NM_020383	NP_065116	Q9NQW7	XPP1_HUMAN	Homo sapiens X-prolyl aminopeptidase (aminopeptidase P) 1, soluble (XPNPEP1), transcript variant 1, mRNA.	436					bradykinin catabolic process|proteolysis		manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity			endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		TAGGCTGTAGGGGTCCCAAAA	0.413000													7	252					0	0	1	0	0
INPP5B	3633	broad.mit.edu	37	1	38357094	38357094	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:38357094C>A	uc001ccf.1	-	1	110	c.73G>T	c.(73-75)Ggg>Tgg	p.G25W	INPP5B_uc009vvk.1_Missense_Mutation_p.G130W|INPP5B_uc001ccg.1_Missense_Mutation_p.G189W|INPP5B_uc010oij.1_5'Flank	NM_005540	NP_005531	P32019	I5P2_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 75kDa (INPP5B), nuclear gene encoding mitochondrial protein, mRNA.	269					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to membrane|microtubule cytoskeleton	GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				ACTCCCTTCCCATTTGGTCTC	0.448000													7	293					0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	70034913	70034913	+	Splice_Site	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:70034913G>T	uc010kak.3	+	20	3241	c.2965_splice	c.e20+1	p.G989_splice	BAI3_uc003pev.4_Splice_Site_p.G989_splice|BAI3_uc011dxx.2_Splice_Site_p.G195_splice	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	989					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GCCTTGGATGGGGTAAGCATA	0.408000													7	214					0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	124992823	124992823	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr8:124992823G>T	uc003yqw.3	+	10	1388	c.1182G>T	c.(1180-1182)agG>agT	p.R394S		NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	394						integral to membrane		p.R394K(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TGTCATTCAGGGGCAGAATCT	0.512000											OREG0018964	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	352					0	0	1	0	0
NTN3	4917	broad.mit.edu	37	16	2521965	2521965	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr16:2521965C>A	uc002cqj.3	+	0	466	c.263C>A	c.(262-264)gCc>gAc	p.A88D		NM_006181	NP_006172	O00634	NET3_HUMAN	Homo sapiens netrin 3 (NTN3), mRNA.	88	Laminin N-terminal.				axon guidance|muscle cell differentiation|positive regulation of muscle cell differentiation	proteinaceous extracellular matrix		p.A88D(2)		breast(1)|central_nervous_system(2)|lung(3)|prostate(1)	7						GGGGGCACGGCCAGCCCTCTG	0.721000													5	25					0	0	1	0	0
TLE3	7090	broad.mit.edu	37	15	70358460	70358460	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr15:70358460G>T	uc002asl.2	-	5	786	c.485C>A	c.(484-486)cCc>cAc	p.P162H	TLE3_uc002ask.2_Missense_Mutation_p.P101H|TLE3_uc010ukd.1_Missense_Mutation_p.P150H|TLE3_uc010bil.1_Missense_Mutation_p.P157H|TLE3_uc002asn.2_Missense_Mutation_p.P157H|TLE3_uc002asm.2_Missense_Mutation_p.P157H|TLE3_uc002asp.2_Missense_Mutation_p.P157H|TLE3_uc002aso.2_Missense_Mutation_p.P157H|TLE3_uc010bim.1_Non-coding_Transcript	NM_001105192	NP_001098662	Q04726	TLE3_HUMAN	Homo sapiens transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila) (TLE3), transcript variant 2, mRNA.	157	Gly/Pro-rich.				Wnt receptor signaling pathway|organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TGTCACTGGGGGGATTCCTGG	0.667000													4	47					0	0	1	0	0
OR1E2	8388	broad.mit.edu	37	17	3336249	3336249	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:3336249G>T	uc010vre.2	-	0	887	c.887C>A	c.(886-888)cCc>cAc	p.P296H		NM_003554	NP_003545	P47887	OR1E2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily E, member 2 (OR1E2), mRNA.	296					sensory perception of smell	integral to plasma membrane	olfactory receptor activity	p.P296P(1)		endometrium(3)|large_intestine(3)|lung(3)	9						GTAGATGAAGGGGGTCAGCAT	0.453000													6	165					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61829960	61829960	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:61829960C>A	uc001jky.3	-	36	11017	c.10679G>T	c.(10678-10680)cGg>cTg	p.R3560L	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	3560					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTCATCTTCCCGTGATTTACT	0.463000													5	178					0	0	1	0	0
MC4R	4160	broad.mit.edu	37	18	58038857	58038857	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr18:58038857C>A	uc002lie.1	-	0	1145	c.726G>T	c.(724-726)aaG>aaT	p.K242N		NM_005912	NP_005903	P32245	MC4R_HUMAN	Homo sapiens melanocortin 4 receptor (MC4R), mRNA.	242					G-protein signaling, coupled to cAMP nucleotide second messenger|feeding behavior|positive regulation of bone resorption|positive regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(73;0.0946)				TAATCGCTCCCTTCATATTGG	0.502000													6	106					0	0	1	0	0
ADAM12	8038	broad.mit.edu	37	10	127731623	127731623	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:127731623G>T	uc001ljk.2	-	17	2512	c.2099C>A	c.(2098-2100)cCc>cAc	p.P700H	ADAM12_uc010qul.1_Missense_Mutation_p.P651H|ADAM12_uc001ljm.3_Missense_Mutation_p.P700H|ADAM12_uc001ljn.3_Missense_Mutation_p.P697H|ADAM12_uc001ljl.4_Missense_Mutation_p.P697H	NM_003474	NP_003465	O43184	ADA12_HUMAN	Homo sapiens ADAM metallopeptidase domain 12 (ADAM12), transcript variant 1, mRNA.	700					cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	SH3 domain binding|metalloendopeptidase activity|protein binding|zinc ion binding			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		TTGCCGGATGGGGCCGCTGTC	0.627000													4	43					0	0	1	0	0
MMP13	4322	broad.mit.edu	37	11	102820888	102820888	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:102820888G>T	uc001phl.3	-	5	897	c.868C>A	c.(868-870)Ctt>Att	p.L290I		NM_002427	NP_002418	P45452	MMP13_HUMAN	Homo sapiens matrix metallopeptidase 13 (collagenase 3) (MMP13), mRNA.	290	Hemopexin-like 1.				collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)		ATGGCATCAAGGGATAAGGAA	0.433000													8	312					0	0	1	0	0
STAB1	23166	broad.mit.edu	37	3	52557149	52557149	+	Splice_Site	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:52557149G>T	uc003dej.3	+	63	7094	c.7020_splice	c.e63+1	p.G2340_splice	STAB1_uc003dek.1_Splice_Site_p.G355_splice|STAB1_uc003del.3_Splice_Site_p.G227_splice	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	2340	FAS1 7.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		ACCTTCTATGGGGTGTGTGGG	0.622000													5	91					0	0	1	0	0
SKIV2L	6499	broad.mit.edu	37	6	31930234	31930234	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:31930234C>A	uc003nyn.1	+	10	1472	c.1083C>A	c.(1081-1083)ccC>ccA	p.P361P	SKIV2L_uc011dou.1_Silent_p.P203P|SKIV2L_uc011dov.1_Silent_p.P168P	NM_006929	NP_008860	Q15477	SKIV2_HUMAN	Homo sapiens superkiller viralicidic activity 2-like (S. cerevisiae) (SKIV2L), mRNA.	361	Helicase ATP-binding.					nucleus	ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						ACACTTCGCCCATCAAGGCCC	0.597000													5	125					0	0	1	0	0
ARL13B	200894	broad.mit.edu	37	3	93769675	93769675	+	Missense_Mutation	SNP	G	G	T	rs139897675		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:93769675G>T	uc003drc.3	+	8	1434	c.1149G>T	c.(1147-1149)tgG>tgT	p.W383C	ARL13B_uc010hop.3_Missense_Mutation_p.W234C|ARL13B_uc003drf.3_Missense_Mutation_p.W383C|ARL13B_uc003drg.3_Missense_Mutation_p.W280C|ARL13B_uc003drd.3_Missense_Mutation_p.W276C|ARL13B_uc003dre.3_Missense_Mutation_p.W368C	NM_182896	NP_001167622	Q3SXY8	AR13B_HUMAN	Homo sapiens ADP-ribosylation factor-like 13B (ARL13B), transcript variant 1, mRNA.	383	Pro-rich.						GTP binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(2)	10						TAGTTGGCTGGGGAACCCCTA	0.378000													5	132					0	0	1	0	0
LCE2A	353139	broad.mit.edu	37	1	152671631	152671631	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:152671631C>A	uc021oze.1	+	0	254	c.254C>A	c.(253-255)cCc>cAc	p.P85H	LCE2A_uc001faj.3_Missense_Mutation_p.P85H	NM_178428	NP_848515	Q5TA79	LCE2A_HUMAN	Homo sapiens late cornified envelope 2A (LCE2A), mRNA.	85	Cys-rich.				keratinization					breast(1)|large_intestine(1)|liver(2)|lung(4)	8	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CACCAGAGCCCCGATTGTTGT	0.652000													5	91					0	0	1	0	0
BMS1	9790	broad.mit.edu	37	10	43288532	43288532	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:43288532G>T	uc001jaj.3	+	7	1387	c.1029G>T	c.(1027-1029)ggG>ggT	p.G343G		NM_014753	NP_055568	Q14692	BMS1_HUMAN	Homo sapiens BMS1 homolog, ribosome assembly protein (yeast) (BMS1), mRNA.	343					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CTGGAGTTGGGGGTGTGCTGT	0.483000													9	339					0	0	1	0	0
CORO1A	11151	broad.mit.edu	37	16	30197992	30197992	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr16:30197992C>A	uc010bzq.3	+	3	707	c.272C>A	c.(271-273)cCg>cAg	p.P91Q	BOLA2_uc010bzb.1_Intron|CORO1A_uc010vej.2_Missense_Mutation_p.P91Q|CORO1A_uc002dww.3_Missense_Mutation_p.P91Q|CORO1A_uc002dwx.3_5'UTR|CORO1A_uc002dwy.1_5'Flank|CORO1A_uc002dwz.1_5'Flank	NM_001193333	NP_009005	P31146	COR1A_HUMAN	Homo sapiens coronin, actin binding protein, 1A (CORO1A), transcript variant 1, mRNA.	91					cell-substrate adhesion|innate immune response|leukocyte chemotaxis|negative regulation of actin nucleation|phagolysosome assembly|positive chemotaxis|regulation of cell shape|uropod organization	actin filament|cortical actin cytoskeleton|lamellipodium|phagocytic cup|phagocytic vesicle membrane	actin filament binding|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein homodimerization activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	9						GCCTGGTGCCCGCACAATGAC	0.617000													3	39					0	0	1	0	0
PLTP	5360	broad.mit.edu	37	20	44540149	44540149	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr20:44540149C>A	uc002xqm.2	-	0	538	c.3G>T	c.(1-3)atG>atT	p.M1I	PLTP_uc002xql.2_5'Flank|PLTP_uc010zxj.2_Intron|PLTP_uc002xqq.2_Intron|PLTP_uc002xqn.2_Intron|PLTP_uc002xqo.2_Intron	NM_001242921	NP_001229850	P55058	PLTP_HUMAN	Homo sapiens phospholipid transfer protein (PLTP), transcript variant 4, mRNA.	0					cellular lipid metabolic process|lipid transport	extracellular region	lipid binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)	21		Myeloproliferative disorder(115;0.0122)				CGCTTAAACCCATTCCTTGGA	0.587000													3	25					0	0	1	0	0
PRPF38A	84950	broad.mit.edu	37	1	52880516	52880516	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:52880516C>A	uc001ctv.4	+	7	1035	c.832C>A	c.(832-834)Cgt>Agt	p.R278S	PRPF38A_uc001ctw.4_Silent_p.P88P	NM_032864	NP_116253	Q8NAV1	PR38A_HUMAN	Homo sapiens PRP38 pre-mRNA processing factor 38 (yeast) domain containing A (PRPF38A), mRNA.	278	Arg-rich.				RNA splicing|mRNA processing	spliceosomal complex				cervix(2)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|stomach(1)	9						GCACAGATCCCGTTCCAAGTC	0.552000													4	119					0	0	1	0	0
EXT2	2132	broad.mit.edu	37	11	44146521	44146521	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:44146521C>A	uc001mya.3	+	4	1081	c.1025C>A	c.(1024-1026)cCa>cAa	p.P342Q	EXT2_uc010rfo.2_Missense_Mutation_p.P337Q|EXT2_uc009ykt.3_Missense_Mutation_p.P309Q|EXT2_uc001mxz.3_Missense_Mutation_p.P309Q	NM_000401	NP_000392	Q93063	EXT2_HUMAN	Homo sapiens exostosin 2 (EXT2), transcript variant 1, mRNA.	309					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|protein heterodimerization activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						TTCGATTACCCACAGGTGCTA	0.488000			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Hereditary Multiple Exostoses				5	135					0	0	1	0	0
SSH3	54961	broad.mit.edu	37	11	67072366	67072366	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:67072366G>T	uc001okj.3	+	2	405	c.227G>T	c.(226-228)gGg>gTg	p.G76V	SSH3_uc001okk.3_Non-coding_Transcript|SSH3_uc001okl.3_5'UTR	NM_017857	NP_060327	Q8TE77	SSH3_HUMAN	Homo sapiens slingshot homolog 3 (Drosophila) (SSH3), mRNA.	76					regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton|nucleus	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			GAGCTCCACGGGGACCAGACA	0.622000													4	48					0	0	1	0	0
CHL1	10752	broad.mit.edu	37	3	367694	367694	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:367694C>A	uc003bot.3	+	3	786	c.144C>A	c.(142-144)ccC>ccA	p.P48P	CHL1_uc003bou.3_Silent_p.P48P|CHL1_uc003bow.2_Silent_p.P48P|CHL1_uc011asi.2_Silent_p.P48P	NM_006614	NP_006605	O00533	CHL1_HUMAN	Homo sapiens cell adhesion molecule with homology to L1CAM (close homolog of L1) (CHL1), transcript variant 1, mRNA.	48	Ig-like C2-type 1.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		TTGCCTTTCCCTTCGATGAGT	0.348000													5	140					0	0	1	0	0
ABCB11	8647	broad.mit.edu	37	2	169830238	169830238	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:169830238G>T	uc002ueo.1	-	12	1547	c.1421C>A	c.(1420-1422)cCc>cAc	p.P474H	ABCB11_uc010zda.1_5'Flank|ABCB11_uc010zdb.1_5'Flank	NM_003742	NP_003733	O95342	ABCBB_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 11 (ABCB11), mRNA.	474	ABC transporter 1.				bile acid biosynthetic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	TCCTTCACAGGGGTCATAGAA	0.458000													11	369					0	0	1	0	0
OR1F1	4992	broad.mit.edu	37	16	3254942	3254942	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr16:3254942G>T	uc010uwu.2	+	0	696	c.696G>T	c.(694-696)aaG>aaT	p.K232N		NM_012360	NP_036492	O43749	OR1F1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily F, member 1 (OR1F1), mRNA.	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T231A(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(7)	11						CATCCACAAAGGGAAGGTGGA	0.512000													8	306					0	0	1	0	0
MEGF10	84466	broad.mit.edu	37	5	126734475	126734475	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:126734475C>A	uc003kuh.4	+	7	1129	c.767C>A	c.(766-768)cCt>cAt	p.P256H	MEGF10_uc010jdc.1_Missense_Mutation_p.P256H|MEGF10_uc010jdd.1_Missense_Mutation_p.P256H|MEGF10_uc003kui.4_Missense_Mutation_p.P256H	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	Homo sapiens multiple EGF-like-domains 10 (MEGF10), mRNA.	256	EGF-like 4.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		TGCTCTTGCCCTTCTGGCTGG	0.522000													5	123					0	0	1	0	0
ADAMTS3	9508	broad.mit.edu	37	4	73186567	73186567	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr4:73186567C>A	uc003hgk.2	-	6	1003	c.966G>T	c.(964-966)agG>agT	p.R322S		NM_014243	NP_055058	O15072	ATS3_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 3 (ADAMTS3), mRNA.	322	Peptidase M12B.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ATGGGTTTCCCCTTTCTATGA	0.428000													5	152					0	0	1	0	0
MAGEA11	4110	broad.mit.edu	37	X	148798186	148798186	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chrX:148798186G>T	uc004fdq.3	+	4	1195	c.1040G>T	c.(1039-1041)aGg>aTg	p.R347M	MAGEA11_uc004fdr.3_Missense_Mutation_p.R318M	NM_005366	NP_005357	P43364	MAGAB_HUMAN	Homo sapiens melanoma antigen family A, 11 (MAGEA11), transcript variant 1, mRNA.	347	MAGE.					cytoplasm|nucleus	protein binding			cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					TATGCTGGAAGGGAGCACTTC	0.537000													7	251					0	0	1	0	0
CRYBG3	131544	broad.mit.edu	37	3	97662113	97662113	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:97662113C>A	uc003drx.3	+	18	3088	c.3024C>A	c.(3022-3024)ccC>ccA	p.P1008P	CRYBG3_uc021xbn.1_Silent_p.P1008P|MINA_uc003dsa.1_3'UTR|MINA_uc003drz.1_3'UTR|MINA_uc003dsb.1_3'UTR|MINA_uc003dsc.1_3'UTR					RecName: Full=Beta/gamma crystallin domain-containing protein 3;											breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						TAAATCAGCCCCTGGAGGGAG	0.363000													5	103					0	0	1	0	0
FAM118A	55007	broad.mit.edu	37	22	45726502	45726502	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr22:45726502G>T	uc003bfz.4	+	5	1157	c.541G>T	c.(541-543)Ggg>Tgg	p.G181W	FAM118A_uc003bga.4_Missense_Mutation_p.G181W|FAM118A_uc011aqr.2_5'UTR	NM_001104595	NP_060381	Q9NWS6	F118A_HUMAN	Homo sapiens family with sequence similarity 118, member A (FAM118A), transcript variant 1, mRNA.	181						integral to membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		ATGGGCAAGAGGGCACATGAA	0.493000													5	77					0	0	1	0	0
CLSTN2	64084	broad.mit.edu	37	3	140122471	140122471	+	Splice_Site	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:140122471G>T	uc003etn.3	+	3	423	c.233_splice	c.e3-1	p.G78_splice	CLSTN2_uc003etm.2_Splice_Site_p.G78_splice	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	Homo sapiens calsyntenin 2 (CLSTN2), mRNA.	78	Cadherin 1.				homophilic cell adhesion	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						CCTTCTGCAGGGGAAATCTGT	0.542000										HNSCC(16;0.037)			9	328					0	0	1	0	0
CPEB3	22849	broad.mit.edu	37	10	93851634	93851634	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:93851634G>T	uc001khw.2	-	7	1844	c.1640C>A	c.(1639-1641)cCc>cAc	p.P547H	CPEB3_uc001khu.2_Missense_Mutation_p.P556H|CPEB3_uc001khv.2_Missense_Mutation_p.P533H|CPEB3_uc010qnn.2_Missense_Mutation_p.P533H	NM_014912	NP_055727	Q8NE35	CPEB3_HUMAN	Homo sapiens cytoplasmic polyadenylation element binding protein 3 (CPEB3), transcript variant 1, mRNA.	547							RNA binding|nucleotide binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0869)				AGTTTTTCTGGGGTCCAAAGG	0.433000													5	137					0	0	1	0	0
SART3	9733	broad.mit.edu	37	12	108931915	108931915	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:108931915G>T	uc001tmz.1	-	7	1362	c.1127C>A	c.(1126-1128)cCc>cAc	p.P376H	SART3_uc001tmy.1_5'UTR|SART3_uc009zux.1_5'UTR|SART3_uc010swx.1_Missense_Mutation_p.P376H|SART3_uc010swy.1_Missense_Mutation_p.P262H|SART3_uc010swz.1_Missense_Mutation_p.P376H|SART3_uc001tna.1_Non-coding_Transcript	NM_014706	NP_055521	Q15020	SART3_HUMAN	Homo sapiens squamous cell carcinoma antigen recognized by T cells 3 (SART3), mRNA.	376					RNA processing	cytoplasm|nuclear speck	RNA binding|nucleotide binding|protein binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1)	25						AACTGTCCAGGGGCAGTTTCT	0.418000									Porokeratosis				7	196					0	0	1	0	0
NSUN5P2	260294	broad.mit.edu	37	7	72419268	72419268	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr7:72419268G>T	uc003two.3	-	5	864	c.673C>A	c.(673-675)Ccc>Acc	p.P225T	POM121_uc010lam.1_3'UTR|NSUN5P2_uc003twl.3_Non-coding_Transcript|NSUN5P2_uc003twn.3_Missense_Mutation_p.P225T|NSUN5P2_uc003twm.3_Missense_Mutation_p.P201T|NSUN5P2_uc003twp.3_Missense_Mutation_p.P225T|NSUN5P2_uc003twq.3_3'UTR|NSUN5P2_uc010lan.2_Missense_Mutation_p.P97T					Homo sapiens NOP2/Sun domain family, member 5 pseudogene 2 (NSUN5P2), non-coding RNA.											breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|stomach(1)	15						GTGGTCTTGGGGGAAGCCCGG	0.652000													6	55					0	0	1	0	0
TM9SF1	10548	broad.mit.edu	37	14	24659659	24659659	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr14:24659659G>T	uc010tob.1	-	8	2693	c.2059C>A	c.(2059-2061)Cgg>Agg	p.R687R	IPO4_uc001wmu.2_5'Flank|IPO4_uc001wmv.1_5'Flank|IPO4_uc001wmw.1_5'Flank|IPO4_uc010tnz.1_5'Flank|IPO4_uc001wmx.1_5'Flank|IPO4_uc001wmy.1_5'Flank|IPO4_uc001wmz.2_5'UTR|TM9SF1_uc001wnb.1_Silent_p.R452R|TM9SF1_uc010toa.1_Silent_p.R365R|TM9SF1_uc001wnc.3_Silent_p.R452R	NM_006405	NP_006396	O15321	TM9S1_HUMAN	Homo sapiens transmembrane 9 superfamily member 1 (TM9SF1), transcript variant 1, mRNA.	452					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane		p.R452W(1)|p.R452R(1)		NS(1)|breast(4)|endometrium(3)|large_intestine(11)|lung(4)|ovary(1)	24				GBM - Glioblastoma multiforme(265;0.0183)		GGAATCTCCCGGGCGATGTTC	0.542000													5	134					0	0	1	0	0
PHF23	79142	broad.mit.edu	37	17	7139749	7139749	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:7139749G>T	uc002gfa.3	-	3	724	c.497C>A	c.(496-498)cCc>cAc	p.P166H	DVL2_uc002gez.1_5'Flank|DVL2_uc010vtr.1_5'Flank|DVL2_uc010clz.1_5'Flank|PHF23_uc010vtt.2_Missense_Mutation_p.P99H|PHF23_uc010cma.3_Missense_Mutation_p.P36H	NM_024297	NP_077273	Q9BUL5	PHF23_HUMAN	Homo sapiens PHD finger protein 23 (PHF23), mRNA.	166							zinc ion binding			breast(4)|kidney(2)|large_intestine(6)|lung(3)	15						AAGGGGCACGGGGGTAAGAGC	0.602000													6	120					0	0	1	0	0
RBL1	5933	broad.mit.edu	37	20	35627245	35627245	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr20:35627245G>T	uc002xgi.3	-	21	3203	c.3124C>A	c.(3124-3126)Cct>Act	p.P1042T		NM_002895	NP_002886	P28749	RBL1_HUMAN	Homo sapiens retinoblastoma-like 1 (p107) (RBL1), transcript variant 1, mRNA.	1042					cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				CGTTTGGCAGGGGATTCTGCA	0.398000													7	204					0	0	1	0	0
SEPSECS	51091	broad.mit.edu	37	4	25160704	25160704	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr4:25160704T>C	uc003grg.3	-	1	353	c.140A>G	c.(139-141)gAt>gGt	p.D47G	PI4K2B_uc003grj.3_5'Flank|PI4K2B_uc011bxs.2_5'Flank|SEPSECS_uc003gri.3_Missense_Mutation_p.D46G|SEPSECS_uc003grh.3_Intron	NM_016955	NP_058651	Q9HD40	SPCS_HUMAN	Homo sapiens Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase (SEPSECS), mRNA.	47					selenocysteine incorporation	cytoplasm|nucleus	pyridoxal phosphate binding|tRNA binding|transferase activity, transferring selenium-containing groups	p.D47G(2)		endometrium(1)|large_intestine(4)|lung(2)|stomach(1)	8		Breast(46;0.173)			Pyridoxal Phosphate(DB00114)	TGTACTTTCATCCCAGCCATT	0.363000													9	44					0	0	1	0	0
TCHHL1	126637	broad.mit.edu	37	1	152057837	152057837	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:152057837G>T	uc001ezo.1	-	2	2386	c.2321C>A	c.(2320-2322)cCc>cAc	p.P774H		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	Homo sapiens trichohyalin-like 1 (TCHHL1), mRNA.	774							calcium ion binding	p.P774H(2)		breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			ACTTGACCAGGGGACTGAAGA	0.502000													8	316					0	0	1	0	0
ATP7B	540	broad.mit.edu	37	13	52548505	52548505	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr13:52548505C>A	uc001vfw.2	-	1	1008	c.851G>T	c.(850-852)gGg>gTg	p.G284V	ATP7B_uc001vfy.2_Intron|ATP7B_uc010adv.2_Missense_Mutation_p.G284V|ATP7B_uc001vfx.2_Missense_Mutation_p.G284V|ATP7B_uc010tgt.1_Missense_Mutation_p.G284V|ATP7B_uc010tgu.1_Missense_Mutation_p.G284V|ATP7B_uc010tgv.1_Missense_Mutation_p.G284V|ATP7B_uc010tgw.1_Missense_Mutation_p.G252V	NM_000053	NP_000044	P35670	ATP7B_HUMAN	Homo sapiens ATPase, Cu++ transporting, beta polypeptide (ATP7B), transcript variant 1, mRNA.	284	HMA 3.				ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		ACTTTGAACCCCTAGGAGCTG	0.468000									Wilson disease				7	191					0	0	1	0	0
COL1A1	1277	broad.mit.edu	37	17	48264184	48264184	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:48264184C>T	uc002iqm.3	-	47	3757	c.3631G>A	c.(3631-3633)Gat>Aat	p.D1211N		NM_000088	NP_000079	P02452	CO1A1_HUMAN	Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA.	1211	Nonhelical region (C-terminal).				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding	p.D1211N(2)	COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	CGGCCACCATCGTGAGCCTTC	0.637000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta						45	122					0	0	1	0	0
AIM2	9447	broad.mit.edu	37	1	159043120	159043120	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:159043120C>A	uc001ftj.1	-	1	415	c.170G>T	c.(169-171)gGg>gTg	p.G57V		NM_004833	NP_004824	O14862	AIM2_HUMAN	Homo sapiens absent in melanoma 2 (AIM2), mRNA.	57	DAPIN.				cellular response to drug|immune response|interleukin-1 beta secretion	mitochondrion|nucleus				breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1)	16	all_hematologic(112;0.0429)					AGACACCGCCCCAGCATTTTG	0.393000													6	154					0	0	1	0	0
SCUBE2	57758	broad.mit.edu	37	11	9074727	9074727	+	Missense_Mutation	SNP	G	G	T	rs77907325		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:9074727G>T	uc001mhi.2	-	11	1441	c.1366C>A	c.(1366-1368)Cgt>Agt	p.R456S	SCUBE2_uc021qdk.1_5'Flank|SCUBE2_uc001mhj.2_Intron	NM_020974	NP_066025	Q9NQ36	SCUB2_HUMAN	Homo sapiens signal peptide, CUB domain, EGF-like 2 (SCUBE2), transcript variant 1, mRNA.	456						extracellular region	calcium ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		AGGGACACACGGGGTGACACA	0.537000													3	67					0	0	1	0	0
APBB1IP	54518	broad.mit.edu	37	10	26849107	26849107	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:26849107G>T	uc001iss.3	+	11	1550	c.1229G>T	c.(1228-1230)tGg>tTg	p.W410L		NM_019043	NP_061916	Q7Z5R6	AB1IP_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein (APBB1IP), mRNA.	410	PH.				blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium		p.N408_Q409>K*(1)|p.Q409*(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						CTTAACCAGTGGGTCATGGGA	0.502000													6	161					0	0	1	0	0
ARMC2	84071	broad.mit.edu	37	6	109215669	109215669	+	Splice_Site	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:109215669G>T	uc003pss.4	+	6	846	c.672_splice	c.e6-1	p.G224_splice	ARMC2_uc011eao.2_Splice_Site_p.G59_splice	NM_032131	NP_115507	Q8NEN0	ARMC2_HUMAN	Homo sapiens armadillo repeat containing 2 (ARMC2), mRNA.	224							binding			endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)		ATTCCTCCTAGGGACCAGGGG	0.453000													5	150					0	0	1	0	0
HNRNPR	10236	broad.mit.edu	37	1	23650124	23650124	+	Silent	SNP	T	T	C			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:23650124T>C	uc001bgr.4	-	5	759	c.600A>G	c.(598-600)ccA>ccG	p.P200P	HNRNPR_uc010odw.2_Silent_p.P162P|HNRNPR_uc009vql.3_Silent_p.P61P|HNRNPR_uc001bgp.4_Silent_p.P200P|HNRNPR_uc001bgs.4_Silent_p.P99P|HNRNPR_uc009vqk.3_Silent_p.P99P|HNRNPR_uc010odx.2_Intron	NM_005826	NP_001095867	O43390	HNRPR_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein R (HNRNPR), transcript variant 2, mRNA.	200	RRM 1.					catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	RNA binding|nucleotide binding|protein binding	p.P200P(3)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)		GACCGGACAGTGGATCCATCA	0.443000													10	197					0	0	1	0	0
BTBD11	121551	broad.mit.edu	37	12	108008872	108008879	+	Frame_Shift_Del	DEL	ACCCCGAG	-	-	rs76689600		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:108008872_108008879delACCCCGAG	uc001tmk.1	+	6	2455_2462	c.1934_1941delACCCCGAG	c.(1933-1941)caccccgagfs	p.H645fs	BTBD11_uc009zut.1_Frame_Shift_Del_p.H645fs|BTBD11_uc001tmj.3_Frame_Shift_Del_p.H645fs|BTBD11_uc001tml.1_Frame_Shift_Del_p.H182fs	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	Homo sapiens BTB (POZ) domain containing 11 (BTBD11), transcript variant a, mRNA.	645						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						CCATCCGTCCACCCCGAGACCCGCCATT	0.404													11	78	---	---	---	---					
